DLC1.md
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# DLC1
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## History
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```mermaid
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%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
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title Publication timing
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2014-05-08 : Zhang : MCL
8 9
```
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## Relevance tier by entity
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|Entity|Tier|Description |
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27 29
|FL |No |No |1.697 |0.000 |
28 30
29 31
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-> [!NOTE]
31
-> First described in MCL in 2014 by [Zhang J](https://pubmed.ncbi.nlm.nih.gov/24682267)
32 32
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View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/DLC1_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/DLC1_protein_hg38.html)
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-![image](images/proteinpaint/DLC1_NM_182643.svg)
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+![](images/proteinpaint/DLC1_NM_182643.svg)
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View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/DLC1.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/DLC1_hg38.html)
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-![image](images/proteinpaint/DLC1.svg)
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+![](images/proteinpaint/DLC1.svg)
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+
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## DLC1 Expression
42
-![image](images/gene_expression/DLC1_by_pathology.svg)
43
+![](images/gene_expression/DLC1_by_pathology.svg)
43 44
<!-- ORIGIN: zhangGenomicLandscapeMantle2014 -->
44 45
<!-- MCL: zhangGenomicLandscapeMantle2014 -->
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+
45 47
## References
46 48
1. Zhang J, Jima D, Moffitt AB, Liu Q, Czader M, Hsi ED, Fedoriw Y, Dunphy CH, Richards KL, Gill JI, Sun Z, Love C, Scotland P, Lock E, Levy S, Hsu DS, Dunson D, Dave SS. The genomic landscape of mantle cell lymphoma is related to the epigenetically determined chromatin state of normal B cells. Blood. 2014 May 8;123(19):2988–2996.
DLGAP1.md
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# DLGAP1
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## History
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```mermaid
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%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
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title Publication timing
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2012-12-01 : Love : BL
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```
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## Relevance tier by entity
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|Entity|Tier|Description |
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29 31
|FL |No |No |0.682 |0 |
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31 33
32
-> [!NOTE]
33
-> First described in BL in 2012 by [Love C](https://pubmed.ncbi.nlm.nih.gov/23143597)
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View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/DLGAP1_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/DLGAP1_protein_hg38.html)
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-![image](images/proteinpaint/DLGAP1_NM_004746.svg)
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+![](images/proteinpaint/DLGAP1_NM_004746.svg)
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View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/DLGAP1.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/DLGAP1_hg38.html)
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42
-![image](images/proteinpaint/DLGAP1.svg)
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+![](images/proteinpaint/DLGAP1.svg)
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+
43 44
## DLGAP1 Expression
44
-![image](images/gene_expression/DLGAP1_by_pathology.svg)
45
+![](images/gene_expression/DLGAP1_by_pathology.svg)
45 46
<!-- ORIGIN: loveGeneticLandscapeMutations2012 -->
46 47
<!-- BL: loveGeneticLandscapeMutations2012 -->
48
+
47 49
## References
48 50
1. Love C, Sun Z, Jima D, Li G, Zhang J, Miles R, Richards KL, Dunphy CH, Choi WWL, Srivastava G, Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers CR, Naresh KN, Evens AM, Chadburn A, Gordon LI, Czader MB, Gill JI, Hsi ED, Greenough A, Moffitt AB, McKinney M, Banerjee A, Grubor V, Levy S, Dunson DB, Dave SS. The genetic landscape of mutations in Burkitt lymphoma. Nat Genet. 2012 Dec;44(12):1321–1325. PMCID: PMC3674561
DNAH5.md
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1 1
# DNAH5
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## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
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@@ -7,6 +8,7 @@ timeline
7 8
2013-08-15 : Morin : DLBCL
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2017-07-27 : Jallades : MZL
9 10
```
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## Relevance tier by entity
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|Entity|Tier|Description |
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32 34
|FL |No |No |1.327 |0.000 |
33 35
34 36
35
-> [!NOTE]
36
-> First described in DLBCL in 2013 by [Morin RD](https://pubmed.ncbi.nlm.nih.gov/23699601)
37 37
38 38
39 39
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/DNAH5_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/DNAH5_protein_hg38.html)
40 40
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-![image](images/proteinpaint/DNAH5_NM_001369.svg)
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+![](images/proteinpaint/DNAH5_NM_001369.svg)
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View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/DNAH5.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/DNAH5_hg38.html)
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45
-![image](images/proteinpaint/DNAH5.svg)
45
+![](images/proteinpaint/DNAH5.svg)
46
+
46 47
## DNAH5 Expression
47
-![image](images/gene_expression/DNAH5_by_pathology.svg)
48
+![](images/gene_expression/DNAH5_by_pathology.svg)
48 49
<!-- ORIGIN: morinMutationalStructuralAnalysis2013 -->
49 50
<!-- DLBCL: morinMutationalStructuralAnalysis2013 -->
50 51
<!-- MZL: jalladesExomeSequencingIdentifies2017 -->
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+
51 53
## References
52 54
1. Morin RD, Mungall K, Pleasance E, Mungall AJ, Goya R, Huff RD, Scott DW, Ding J, Roth A, Chiu R, Corbett RD, Chan FC, Mendez-Lago M, Trinh DL, Bolger-Munro M, Taylor G, Hadj Khodabakhshi A, Ben-Neriah S, Pon J, Meissner B, Woolcock B, Farnoud N, Rogic S, Lim EL, Johnson NA, Shah S, Jones S, Steidl C, Holt R, Birol I, Moore R, Connors JM, Gascoyne RD, Marra MA. Mutational and structural analysis of diffuse large B-cell lymphoma using whole-genome sequencing. Blood. 2013 Aug 15;122(7):1256–1265. PMCID: PMC3744992
53 55
2. Jallades L, Baseggio L, Sujobert P, Huet S, Chabane K, Callet-Bauchu E, Verney A, Hayette S, Desvignes JP, Salgado D, Levy N, Béroud C, Felman P, Berger F, Magaud JP, Genestier L, Salles G, Traverse-Glehen A. Exome sequencing identifies recurrent BCOR alterations and the absence of KLF2, TNFAIP3 and MYD88 mutations in splenic diffuse red pulp small B-cell lymphoma. Haematologica. 2017 Oct;102(10):1758–1766. PMCID: PMC5622860
DNM2.md
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# DNM2
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## History
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Mutations in this gene were first described in DLBCL and FL in 2021 by Hübschmann et al.<sup>1</sup>
4 5
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title Publication timing
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2021-05-05 : H : DLBCL
10 11
```
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## Relevance tier by entity
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|Entity|Tier|Description |
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@@ -40,13 +42,14 @@ timeline
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View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/DNM2_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/DNM2_protein_hg38.html)
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-![image](images/proteinpaint/DNM2_NM_001005360.svg)
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+![](images/proteinpaint/DNM2_NM_001005360.svg)
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View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/DNM2.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/DNM2_hg38.html)
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-![image](images/proteinpaint/DNM2.svg)
49
+![](images/proteinpaint/DNM2.svg)
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+
48 51
## DNM2 Expression
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-![image](images/gene_expression/DNM2_by_pathology.svg)
52
+![](images/gene_expression/DNM2_by_pathology.svg)
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51 54
## References
52 55
1. Hübschmann D, Kleinheinz K, Wagener R, Bernhart SH, López C, Toprak UH, Sungalee S, Ishaque N, Kretzmer H, Kreuz M, Waszak SM, Paramasivam N, Ammerpohl O, Aukema SM, Beekman R, Bergmann AK, Bieg M, Binder H, Borkhardt A, Borst C, Brors B, Bruns P, Carrillo de Santa Pau E, Claviez A, Doose G, Haake A, Karsch D, Haas S, Hansmann ML, Hoell JI, Hovestadt V, Huang B, Hummel M, Jäger-Schmidt C, Kerssemakers JNA, Korbel JO, Kube D, Lawerenz C, Lenze D, Martens JHA, Ott G, Radlwimmer B, Reisinger E, Richter J, Rico D, Rosenstiel P, Rosenwald A, Schillhabel M, Stilgenbauer S, Stadler PF, Martín-Subero JI, Szczepanowski M, Warsow G, Weniger MA, Zapatka M, Valencia A, Stunnenberg HG, Lichter P, Möller P, Loeffler M, Eils R, Klapper W, Hoffmann S, Trümper L, ICGC MMML-Seq consortium, ICGC DE-Mining consortium, BLUEPRINT consortium, Küppers R, Schlesner M, Siebert R. Mutational mechanisms shaping the coding and noncoding genome of germinal center derived B-cell lymphomas. Leukemia. 2021 Jul;35(7):2002–2016. PMCID: PMC8257491
DNMT1.md
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1 1
# DNMT1
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## History
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```mermaid
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7 8
title Publication timing
8 9
2019-09-26 : Panea : BL
9 10
```
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## Relevance tier by entity
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|Entity|Tier|Description |
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30 32
|FL |No |No |2.053 |0.000 |
31 33
32 34
33
-> [!NOTE]
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-> First described in BL in 2019 by [Panea RI](https://pubmed.ncbi.nlm.nih.gov/31558468)
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View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/DNMT1_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/DNMT1_protein_hg38.html)
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-![image](images/proteinpaint/DNMT1_NM_001130823.svg)
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+![](images/proteinpaint/DNMT1_NM_001130823.svg)
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View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/DNMT1.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/DNMT1_hg38.html)
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43
-![image](images/proteinpaint/DNMT1.svg)
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+![](images/proteinpaint/DNMT1.svg)
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+
44 45
## DNMT1 Expression
45
-![image](images/gene_expression/DNMT1_by_pathology.svg)
46
+![](images/gene_expression/DNMT1_by_pathology.svg)
46 47
<!-- ORIGIN: paneaWholeGenomeLandscape2019 -->
47 48
<!-- BL: paneaWholeGenomeLandscape2019 -->
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## References
49 51
1. Panea R, Love C, Shingleton JR, Reddy A, Bailey J, Moormann A, Otieno J, Ong’echa J, Oduor C, Schroêder K, Masalu N, Chao N, Agajanian M, Major M, Fedoriw Y, Richards K, Rymkiewicz G, Miles R, Alobeid B, Bhagat G, Flowers C, Ondrejka S, Hsi E, Choi W, Au-Yeung R, Hartmann W, Lenz G, Meyerson H, Lin YY, Zhuang Y, Luftig M, Waldrop A, Dave T, Thakkar D, Sahay H, Li G, Palus B, Seshadri V, Kim S, Gascoyne R, Levy S, Mukhopadhyay M, Dunson D, Dave S. The whole genome landscape of Burkitt lymphoma subtypes. Blood. 2019;
DNMT3A.md
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# DNMT3A
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## History
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```mermaid
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@@ -7,6 +8,7 @@ timeline
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title Publication timing
8 9
2017-10-10 : Reddy : DLBCL
9 10
```
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+
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## Relevance tier by entity
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|Entity|Tier|Description |
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@@ -31,20 +33,20 @@ timeline
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|FL |No |No |0 |0 |
32 34
33 35
34
-> [!NOTE]
35
-> First described in DLBCL in 2017 by [Reddy A](https://pubmed.ncbi.nlm.nih.gov/28985567)
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View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/DNMT3A_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/DNMT3A_protein_hg38.html)
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-![image](images/proteinpaint/DNMT3A_NM_175629.svg)
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+![](images/proteinpaint/DNMT3A_NM_175629.svg)
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View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/DNMT3A.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/DNMT3A_hg38.html)
43 43
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-![image](images/proteinpaint/DNMT3A.svg)
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+![](images/proteinpaint/DNMT3A.svg)
45
+
45 46
## DNMT3A Expression
46
-![image](images/gene_expression/DNMT3A_by_pathology.svg)
47
+![](images/gene_expression/DNMT3A_by_pathology.svg)
47 48
<!-- ORIGIN: reddyGeneticFunctionalDrivers2017 -->
48 49
<!-- DLBCL: reddyGeneticFunctionalDrivers2017 -->
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+
49 51
## References
50 52
1. Reddy A, Zhang J, Davis NS, Moffitt AB, Love CL, Waldrop A, Leppa S, Pasanen A, Meriranta L, Karjalainen-Lindsberg ML, Nørgaard P, Pedersen M, Gang AO, Høgdall E, Heavican TB, Lone W, Iqbal J, Qin Q, Li G, Kim SY, Healy J, Richards KL, Fedoriw Y, Bernal-Mizrachi L, Koff JL, Staton AD, Flowers CR, Paltiel O, Goldschmidt N, Calaminici M, Clear A, Gribben J, Nguyen E, Czader MB, Ondrejka SL, Collie A, Hsi ED, Tse E, Au-Yeung RKH, Kwong YL, Srivastava G, Choi WWL, Evens AM, Pilichowska M, Sengar M, Reddy N, Li S, Chadburn A, Gordon LI, Jaffe ES, Levy S, Rempel R, Tzeng T, Happ LE, Dave T, Rajagopalan D, Datta J, Dunson DB, Dave SS. Genetic and Functional Drivers of Diffuse Large B Cell Lymphoma. Cell. 2017 Oct;171(2):481-494.e15.
DOCK1.md
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1 1
# DOCK1
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## History
3 4
4 5
```mermaid
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@@ -7,6 +8,7 @@ timeline
7 8
title Publication timing
8 9
2018-05-01 : Chapuy : DLBCL
9 10
```
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+
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## Relevance tier by entity
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|Entity|Tier|Description |
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@@ -31,20 +33,20 @@ timeline
31 33
|FL |No |No |1.838 |0 |
32 34
33 35
34
-> [!NOTE]
35
-> First described in DLBCL in 2018 by [Chapuy B](https://pubmed.ncbi.nlm.nih.gov/29713087)
36 36
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View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/DOCK1_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/DOCK1_protein_hg38.html)
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-![image](images/proteinpaint/DOCK1_NM_001380.svg)
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+![](images/proteinpaint/DOCK1_NM_001380.svg)
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View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/DOCK1.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/DOCK1_hg38.html)
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-![image](images/proteinpaint/DOCK1.svg)
44
+![](images/proteinpaint/DOCK1.svg)
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+
45 46
## DOCK1 Expression
46
-![image](images/gene_expression/DOCK1_by_pathology.svg)
47
+![](images/gene_expression/DOCK1_by_pathology.svg)
47 48
<!-- ORIGIN: chapuyMolecularSubtypesDiffuse2018b -->
48 49
<!-- DLBCL: chapuyMolecularSubtypesDiffuse2018b -->
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+
49 51
## References
50 52
1. Chapuy B, Stewart C, Dunford AJ, Kim J, Kamburov A, Redd RA, Lawrence MS, Roemer MGM, Li AJ, Ziepert M, Staiger AM, Wala JA, Ducar MD, Leshchiner I, Rheinbay E, Taylor-Weiner A, Coughlin CA, Hess JM, Pedamallu CS, Livitz D, Rosebrock D, Rosenberg M, Tracy AA, Horn H, van Hummelen P, Feldman AL, Link BK, Novak AJ, Cerhan JR, Habermann TM, Siebert R, Rosenwald A, Thorner AR, Meyerson ML, Golub TR, Beroukhim R, Wulf GG, Ott G, Rodig SJ, Monti S, Neuberg DS, Loeffler M, Pfreundschuh M, Trümper L, Getz G, Shipp MA. Molecular subtypes of diffuse large B cell lymphoma are associated with distinct pathogenic mechanisms and outcomes. Nat Med. 2018 May;24(5):679–690. PMCID: PMC6613387
DSG4.md
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1 1
# DSG4
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## History
3 4
4 5
```mermaid
... ...
@@ -7,6 +8,7 @@ timeline
7 8
title Publication timing
8 9
2013-08-15 : Morin : DLBCL
9 10
```
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+
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## Relevance tier by entity
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12 14
|Entity|Tier|Description |
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@@ -31,20 +33,20 @@ timeline
31 33
|FL |No |No |1.374 |0.000 |
32 34
33 35
34
-> [!NOTE]
35
-> First described in DLBCL in 2013 by [Morin RD](https://pubmed.ncbi.nlm.nih.gov/23699601)
36 36
37 37
38 38
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/DSG4_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/DSG4_protein_hg38.html)
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-![image](images/proteinpaint/DSG4_NM_001134453.svg)
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+![](images/proteinpaint/DSG4_NM_001134453.svg)
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View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/DSG4.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/DSG4_hg38.html)
43 43
44
-![image](images/proteinpaint/DSG4.svg)
44
+![](images/proteinpaint/DSG4.svg)
45
+
45 46
## DSG4 Expression
46
-![image](images/gene_expression/DSG4_by_pathology.svg)
47
+![](images/gene_expression/DSG4_by_pathology.svg)
47 48
<!-- ORIGIN: morinMutationalStructuralAnalysis2013 -->
48 49
<!-- DLBCL: morinMutationalStructuralAnalysis2013 -->
50
+
49 51
## References
50 52
1. Morin RD, Mungall K, Pleasance E, Mungall AJ, Goya R, Huff RD, Scott DW, Ding J, Roth A, Chiu R, Corbett RD, Chan FC, Mendez-Lago M, Trinh DL, Bolger-Munro M, Taylor G, Hadj Khodabakhshi A, Ben-Neriah S, Pon J, Meissner B, Woolcock B, Farnoud N, Rogic S, Lim EL, Johnson NA, Shah S, Jones S, Steidl C, Holt R, Birol I, Moore R, Connors JM, Gascoyne RD, Marra MA. Mutational and structural analysis of diffuse large B-cell lymphoma using whole-genome sequencing. Blood. 2013 Aug 15;122(7):1256–1265. PMCID: PMC3744992
DTX1.md
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@@ -1,4 +1,5 @@
1 1
# DTX1
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+
2 3
## Overview
3 4
Mutations in the DTX1 gene, which encodes the E3 ubiquitin ligase Deltex 1, have been identified in various B-cell lymphomas, including diffuse large B-cell lymphoma (DLBCL). DTX1 is one of [a number of genes](https://github.com/morinlab/LLMPP/wiki/ashm) affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus. These mutations are associated with the BN2 genetic subgroup of DLBCL.<sup>1</sup> There are numerous mutation hotspots in this gene with some leading to a truncated protein. DTX1 functions as a negative regulator of the Notch signaling pathway. Some DTX1 mutations impair its function, thereby dysregulating Notch signaling, which is crucial for normal B-cell development and function. <sup>2</sup>
4 5
## History
... ...
@@ -11,6 +12,7 @@ timeline
11 12
2019-09-26 : Panea : BL
12 13
2023-11-15 : Gomez : PMBL
13 14
```
15
+
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## Relevance tier by entity
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16 18
|Entity|Tier|Description |
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@@ -48,8 +50,6 @@ timeline
48 50
|:--------:|:----------:|:---------:|:--------------------------------------------------------------------------------------------:|:------------------:|
49 51
|chr12 |113492311 |113497546|[TSS](https://genome.ucsc.edu/s/rdmorin/GAMBL%20hg19?position=chr12%3A113492311%2D113497546)|NA |
50 52
51
-> [!NOTE]
52
-> First described in DLBCL in 2014.<sup>2</sup> and in BL in 2019 by [Panea RI](https://pubmed.ncbi.nlm.nih.gov/31558468).
53 53
54 54
## DTX1 Hotspots
55 55
... ...
@@ -102,14 +102,14 @@ timeline
102 102
103 103
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/DTX1_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/DTX1_protein_hg38.html)
104 104
105
-![image](images/proteinpaint/DTX1_NM_004416.svg)
105
+![](images/proteinpaint/DTX1_NM_004416.svg)
106 106
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View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/DTX1.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/DTX1_hg38.html)
108 108
109
-![image](images/proteinpaint/DTX1.svg)
109
+![](images/proteinpaint/DTX1.svg)
110 110
111 111
## DTX1 Expression
112
-![image](images/gene_expression/DTX1_by_pathology.svg)
112
+![](images/gene_expression/DTX1_by_pathology.svg)
113 113
114 114
## References
115 115
1. *Wright GW, Huang DW, Phelan JD, Coulibaly ZA, Roulland S, Young RM, Wang JQ, Schmitz R, Morin RD, Tang J, Jiang A, Bagaev A, Plotnikova O, Kotlov N, Johnson CA, Wilson WH, Scott DW, Staudt LM. A Probabilistic Classification Tool for Genetic Subtypes of Diffuse Large B Cell Lymphoma with Therapeutic Implications. Cancer Cell. 2020 Apr 13;37(4):551-568.e14. doi: 10.1016/j.ccell.2020.03.015. PMID: 32289277; PMCID: PMC8459709.*
DUSP2.md
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1 1
# DUSP2
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+
2 3
## Overview
3 4
4 5
DUSP2 functions as a negative regulator of MAPK signaling, particularly affecting the ERK1/2 pathway. DUSP2 mutations have been reported in nodular lymphocyte predominant Hodgkin lymphoma (NLPHL),<sup>1</sup> T-cell/histiocyte-rich large B-cell lymphoma (T/HRLBCL)<sup>2</sup> and they are relatively frequent in DLBCL. DUSP2 is one of [a number of genes](https://github.com/morinlab/LLMPP/wiki/ashm) affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus. These mutations are associated with the ST2 genetic subgroup of DLBCL. This gene has some recurrent sites of mutations (hot spots). The mutation pattern in DLBCL implies the preferential accumulation of *inactivating mutations*.
... ...
@@ -10,6 +11,7 @@ timeline
10 11
2013-08-15 : Morin : DLBCL
11 12
2021-07-15 : Duns : PMBL
12 13
```
14
+
13 15
## Relevance tier by entity
14 16
15 17
|Entity|Tier|Description |
... ...
@@ -42,8 +44,6 @@ timeline
42 44
|:--------:|:----------:|:--------:|:----------------------------------------------------------------------------------------------:|:------------------:|
43 45
|chr2 |96808901 |96811913|[intron-1](https://genome.ucsc.edu/s/rdmorin/GAMBL%20hg19?position=chr2%3A96808901%2D96811913)|enhancer |
44 46
45
-> [!NOTE]
46
-> First described in DLBCL in 2017 by [Reddy A](https://pubmed.ncbi.nlm.nih.gov/28985567)
47 47
48 48
49 49
## DUSP2 Hotspots
... ...
@@ -63,18 +63,18 @@ timeline
63 63
64 64
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/DUSP2_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/DUSP2_protein_hg38.html)
65 65
66
-![image](images/proteinpaint/DUSP2_NM_004418.svg)
66
+![](images/proteinpaint/DUSP2_NM_004418.svg)
67 67
68 68
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/DUSP2.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/DUSP2_hg38.html)
69 69
70
-![image](images/proteinpaint/DUSP2.svg)
70
+![](images/proteinpaint/DUSP2.svg)
71 71
72 72
## References
73 73
1. *Hartmann, S., Schuhmacher, B., Rausch, T., Fuller, L., Döring, C., Weniger, M., Lollies, A., Weiser, C., Thurner, L., Rengstl, B., Brunnberg, U., Vornanen, M., Pfreundschuh, M., Beneš, V., Küppers, R., Newrzela, S., & Hansmann, M. (2016). Highly recurrent mutations of SGK1, DUSP2 and JUNB in nodular lymphocyte predominant Hodgkin lymphoma. Leukemia, 30, 844-853. https://doi.org/10.1038/leu.2015.328.*
74 74
2. *Schuhmacher, B., Bein, J., Rausch, T., Beneš, V., Tousseyn, T., Vornanen, M., Ponzoni, M., Thurner, L., Gascoyne, R., Steidl, C., Küppers, R., Hansmann, M., & Hartmann, S. (2018). JUNB, DUSP2, SGK1, SOCS1 and CREBBP are frequently mutated in T-cell/histiocyte-rich large B-cell lymphoma. Haematologica, 104, 330 - 337. https://doi.org/10.3324/haematol.2018.203224.*
75 75
3. *Schmitz R, Wright GW, Huang DW, Johnson CA, Phelan JD, Wang JQ, Roulland S, Kasbekar M, Young RM, Shaffer AL, Hodson DJ, Xiao W, Yu X, Yang Y, Zhao H, Xu W, Liu X, Zhou B, Du W, Chan WC, Jaffe ES, Gascoyne RD, Connors JM, Campo E, Lopez-Guillermo A, Rosenwald A, Ott G, Delabie J, Rimsza LM, Tay Kuang Wei K, Zelenetz AD, Leonard JP, Bartlett NL, Tran B, Shetty J, Zhao Y, Soppet DR, Pittaluga S, Wilson WH, Staudt LM. Genetics and Pathogenesis of Diffuse Large B-Cell Lymphoma. N Engl J Med. 2018 Apr 12;378(15):1396-1407. doi: 10.1056/NEJMoa1801445. PMID: 29641966; PMCID: PMC6010183.*
76 76
## DUSP2 Expression
77
-![image](images/gene_expression/DUSP2_by_pathology.svg)
77
+![](images/gene_expression/DUSP2_by_pathology.svg)
78 78
<!-- ORIGIN: morinMutationalStructuralAnalysis2013 -->
79 79
<!-- PMBL: dunsCharacterizationDLBCLPMBL2021b -->
80 80
<!-- DLBCL: morinMutationalStructuralAnalysis2013 -->
E2F2.md
... ...
@@ -1,4 +1,5 @@
1 1
# E2F2
2
+
2 3
## History
3 4
4 5
```mermaid
... ...
@@ -7,6 +8,7 @@ timeline
7 8
title Publication timing
8 9
2022-07-06 : Burkhardt : BL
9 10
```
11
+
10 12
## Relevance tier by entity
11 13
12 14
|Entity|Tier|Description |
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@@ -30,20 +32,20 @@ timeline
30 32
|FL |No |No |0.000 | 0.000 |
31 33
32 34
33
-> [!NOTE]
34
-> First described in BL in 2022 by [Burkhardt B](https://pubmed.ncbi.nlm.nih.gov/35794096)
35 35
36 36
37 37
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/E2F2_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/E2F2_protein_hg38.html)
38 38
39
-![image](images/proteinpaint/E2F2_NM_004091.svg)
39
+![](images/proteinpaint/E2F2_NM_004091.svg)
40 40
41 41
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/E2F2.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/E2F2_hg38.html)
42 42
43
-![image](images/proteinpaint/E2F2.svg)
43
+![](images/proteinpaint/E2F2.svg)
44
+
44 45
## E2F2 Expression
45
-![image](images/gene_expression/E2F2_by_pathology.svg)
46
+![](images/gene_expression/E2F2_by_pathology.svg)
46 47
<!-- ORIGIN: burkhardtClinicalRelevanceMolecular2022b -->
47 48
<!-- BL: burkhardtClinicalRelevanceMolecular2022b -->
49
+
48 50
## References
49 51
1. Burkhardt B, Michgehl U, Rohde J, Erdmann T, Berning P, Reutter K, Rohde M, Borkhardt A, Burmeister T, Dave S, Tzankov A, Dugas M, Sandmann S, Fend F, Finger J, Mueller S, Gökbuget N, Haferlach T, Kern W, Hartmann W, Klapper W, Oschlies I, Richter J, Kontny U, Lutz M, Maecker-Kolhoff B, Ott G, Rosenwald A, Siebert R, von Stackelberg A, Strahm B, Woessmann W, Zimmermann M, Zapukhlyak M, Grau M, Lenz G. Clinical relevance of molecular characteristics in Burkitt lymphoma differs according to age. Nat Commun. 2022 Jul 6;13(1):3881. PMCID: PMC9259584
EBF1.md
... ...
@@ -1,4 +1,5 @@
1 1
# EBF1
2
+
2 3
## Overview
3 4
EBF1 is a critical transcription factor in early B-cell development, regulating the expression of key genes involved in B-cell differentiation, survival, and function. EBF1 is essential for proper B-cell receptor (BCR) signaling.<sup>1</sup> Mutations in EBF1 can impair BCR signaling pathways, affecting B-cell survival and proliferation.<sup>1</sup> EBF1 is one of [a number of genes](https://github.com/morinlab/LLMPP/wiki/ashm) affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus. This gene has some recurrent sites of mutations (hot spots) but the mutation pattern in DLBCL and FL implies the preferential accumulation of *inactivating mutations*.
4 5
... ...
@@ -11,6 +12,7 @@ timeline
11 12
2012-10-01 : Bohle : DLBCL
12 13
2015-02-12 : Reichel : PMBL
13 14
```
15
+
14 16
## Relevance tier by entity
15 17
16 18
|Entity|Tier|Description |
... ...
@@ -67,16 +69,16 @@ timeline
67 69
68 70
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/EBF1_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/EBF1_protein_hg38.html)
69 71
70
-![image](images/proteinpaint/EBF1_NM_024007.svg)
72
+![](images/proteinpaint/EBF1_NM_024007.svg)
71 73
72 74
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/EBF1.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/EBF1_hg38.html)
73 75
74
-![image](images/proteinpaint/EBF1.svg)
76
+![](images/proteinpaint/EBF1.svg)
75 77
76 78
## References
77 79
1. *Györy I, Boller S, Nechanitzky R, Mandel E, Pott S, Liu E, Grosschedl R. Transcription factor Ebf1 regulates differentiation stage-specific signaling, proliferation, and survival of B cells. Genes Dev. 2012 Apr 1;26(7):668-82. doi: 10.1101/gad.187328.112. Epub 2012 Mar 19. PMID: 22431510; PMCID: PMC3323878.*
78 80
## EBF1 Expression
79
-![image](images/gene_expression/EBF1_by_pathology.svg)
81
+![](images/gene_expression/EBF1_by_pathology.svg)
80 82
<!-- ORIGIN: 23174882 -->
81 83
<!-- BL: 2 -->
82 84
<!-- PMBL: reichelFlowSortingExome2015a -->
EDNRB.md
... ...
@@ -1,4 +1,5 @@
1 1
# EDNRB
2
+
2 3
## History
3 4
4 5
```mermaid
... ...
@@ -7,6 +8,7 @@ timeline
7 8
title Publication timing
8 9
2022-07-06 : Burkhardt : BL
9 10
```
11
+
10 12
## Relevance tier by entity
11 13
12 14
|Entity|Tier|Description |
... ...
@@ -30,20 +32,20 @@ timeline
30 32
|FL |No |No |2.521 |28.057 |
31 33
32 34
33
-> [!NOTE]
34
-> First described in BL in 2022 by [Burkhardt B](https://pubmed.ncbi.nlm.nih.gov/35794096)
35 35
36 36
37 37
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/EDNRB_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/EDNRB_protein_hg38.html)
38 38
39
-![image](images/proteinpaint/EDNRB_NM_000115.svg)
39
+![](images/proteinpaint/EDNRB_NM_000115.svg)
40 40
41 41
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/EDNRB.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/EDNRB_hg38.html)
42 42
43
-![image](images/proteinpaint/EDNRB.svg)
43
+![](images/proteinpaint/EDNRB.svg)
44
+
44 45
## EDNRB Expression
45
-![image](images/gene_expression/EDNRB_by_pathology.svg)
46
+![](images/gene_expression/EDNRB_by_pathology.svg)
46 47
<!-- ORIGIN: burkhardtClinicalRelevanceMolecular2022b -->
47 48
<!-- BL: burkhardtClinicalRelevanceMolecular2022b -->
49
+
48 50
## References
49 51
1. Burkhardt B, Michgehl U, Rohde J, Erdmann T, Berning P, Reutter K, Rohde M, Borkhardt A, Burmeister T, Dave S, Tzankov A, Dugas M, Sandmann S, Fend F, Finger J, Mueller S, Gökbuget N, Haferlach T, Kern W, Hartmann W, Klapper W, Oschlies I, Richter J, Kontny U, Lutz M, Maecker-Kolhoff B, Ott G, Rosenwald A, Siebert R, von Stackelberg A, Strahm B, Woessmann W, Zimmermann M, Zapukhlyak M, Grau M, Lenz G. Clinical relevance of molecular characteristics in Burkitt lymphoma differs according to age. Nat Commun. 2022 Jul 6;13(1):3881. PMCID: PMC9259584
EEF1A1.md
... ...
@@ -1,4 +1,5 @@
1 1
# EEF1A1
2
+
2 3
## Overview
3 4
Mutations in the EEF1A1 gene, which encodes the eukaryotic translation elongation factor 1A1, have been reported in DLBCL and FL.<sup>1</sup> This gene has some recurrent sites of mutations (hot spots). The mutation pattern in DLBCL and FL implies the preferential accumulation of *inactivating mutations*. Paradoxically, one study showed that EEF1A1 knock down reduced proliferation in vitro and in xenograft experiments.<sup>2</sup>
4 5
... ...
@@ -12,6 +13,7 @@ timeline
12 13
2015-02-12 : Reichel : PMBL
13 14
2021-05-05 : H : FL
14 15
```
16
+
15 17
## Relevance tier by entity
16 18
17 19
|Entity|Tier|Description |
... ...
@@ -55,17 +57,17 @@ timeline
55 57
56 58
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/EEF1A1_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/EEF1A1_protein_hg38.html)
57 59
58
-![image](images/proteinpaint/EEF1A1_NM_001402.svg)
60
+![](images/proteinpaint/EEF1A1_NM_001402.svg)
59 61
60 62
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/EEF1A1.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/EEF1A1_hg38.html)
61 63
62
-![image](images/proteinpaint/EEF1A1.svg)
64
+![](images/proteinpaint/EEF1A1.svg)
63 65
64 66
## References
65 67
1. *Hübschmann D, Kleinheinz K, Wagener R, Bernhart SH, López C, Toprak UH, Sungalee S, Ishaque N, Kretzmer H, Kreuz M, Waszak SM, Paramasivam N, Ammerpohl O, Aukema SM, Beekman R, Bergmann AK, Bieg M, Binder H, Borkhardt A, Borst C, Brors B, Bruns P, Carrillo de Santa Pau E, Claviez A, Doose G, Haake A, Karsch D, Haas S, Hansmann ML, Hoell JI, Hovestadt V, Huang B, Hummel M, Jäger-Schmidt C, Kerssemakers JNA, Korbel JO, Kube D, Lawerenz C, Lenze D, Martens JHA, Ott G, Radlwimmer B, Reisinger E, Richter J, Rico D, Rosenstiel P, Rosenwald A, Schillhabel M, Stilgenbauer S, Stadler PF, Martín-Subero JI, Szczepanowski M, Warsow G, Weniger MA, Zapatka M, Valencia A, Stunnenberg HG, Lichter P, Möller P, Loeffler M, Eils R, Klapper W, Hoffmann S, Trümper L; ICGC MMML-Seq consortium; ICGC DE-Mining consortium; BLUEPRINT consortium; Küppers R, Schlesner M, Siebert R. Mutational mechanisms shaping the coding and noncoding genome of germinal center derived B-cell lymphomas. Leukemia. 2021 Jul;35(7):2002-2016. doi: 10.1038/s41375-021-01251-z. Epub 2021 May 5. PMID: 33953289; PMCID: PMC8257491.*
66 68
2. *Gong T, Shuang Y. Expression and Clinical Value of Eukaryotic Translation Elongation Factor 1A1 (EEF1A1) in Diffuse Large B Cell Lymphoma. Int J Gen Med. 2021 Oct 27;14:7247-7258. doi: 10.2147/IJGM.S324645. PMID: 34737619; PMCID: PMC8559353.*
67 69
## EEF1A1 Expression
68
-![image](images/gene_expression/EEF1A1_by_pathology.svg)
70
+![](images/gene_expression/EEF1A1_by_pathology.svg)
69 71
<!-- ORIGIN: reichelFlowSortingExome2015a -->
70 72
<!-- DLBCL: hubschmannMutationalMechanismsShaping2021b -->
71 73
<!-- FL: hubschmannMutationalMechanismsShaping2021b -->
EHD1.md
... ...
@@ -26,12 +26,15 @@
26 26
27 27
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/EHD1_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/EHD1_protein_hg38.html)
28 28
29
-![image](images/proteinpaint/EHD1_NM_006795.svg)
29
+![](images/proteinpaint/EHD1_NM_006795.svg)
30 30
31 31
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/EHD1.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/EHD1_hg38.html)
32 32
33
-![image](images/proteinpaint/EHD1.svg)
33
+![](images/proteinpaint/EHD1.svg)
34
+
34 35
## EHD1 Expression
35
-![image](images/gene_expression/EHD1_by_pathology.svg)
36
+![](images/gene_expression/EHD1_by_pathology.svg)
36 37
<!-- ORIGIN: Unknown -->
37 38
<!-- BL: 2 -->
39
+
40
+## References
EIF2AK3.md
... ...
@@ -27,11 +27,14 @@
27 27
28 28
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/EIF2AK3_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/EIF2AK3_protein_hg38.html)
29 29
30
-![image](images/proteinpaint/EIF2AK3_NM_004836.svg)
30
+![](images/proteinpaint/EIF2AK3_NM_004836.svg)
31 31
32 32
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/EIF2AK3.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/EIF2AK3_hg38.html)
33 33
34
-![image](images/proteinpaint/EIF2AK3.svg)
34
+![](images/proteinpaint/EIF2AK3.svg)
35
+
35 36
## EIF2AK3 Expression
36
-![image](images/gene_expression/EIF2AK3_by_pathology.svg)
37
+![](images/gene_expression/EIF2AK3_by_pathology.svg)
37 38
<!-- ORIGIN: Unknown -->
39
+
40
+## References
EIF2AK4.md
... ...
@@ -1,4 +1,5 @@
1 1
# EIF2AK4
2
+
2 3
## History
3 4
4 5
```mermaid
... ...
@@ -7,6 +8,7 @@ timeline
7 8
title Publication timing
8 9
2014-05-08 : Zhang : MCL
9 10
```
11
+
10 12
## Relevance tier by entity
11 13
12 14
|Entity|Tier|Description |
... ...
@@ -30,14 +32,16 @@ timeline
30 32
31 33
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/EIF2AK4_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/EIF2AK4_protein_hg38.html)
32 34
33
-![image](images/proteinpaint/EIF2AK4_NM_001013703.svg)
35
+![](images/proteinpaint/EIF2AK4_NM_001013703.svg)
34 36
35 37
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/EIF2AK4.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/EIF2AK4_hg38.html)
36 38
37
-![image](images/proteinpaint/EIF2AK4.svg)
39
+![](images/proteinpaint/EIF2AK4.svg)
40
+
38 41
## EIF2AK4 Expression
39
-![image](images/gene_expression/EIF2AK4_by_pathology.svg)
42
+![](images/gene_expression/EIF2AK4_by_pathology.svg)
40 43
<!-- ORIGIN: zhangGenomicLandscapeMantle2014 -->
41 44
<!-- MCL: zhangGenomicLandscapeMantle2014 -->
45
+
42 46
## References
43 47
1. Zhang J, Jima D, Moffitt AB, Liu Q, Czader M, Hsi ED, Fedoriw Y, Dunphy CH, Richards KL, Gill JI, Sun Z, Love C, Scotland P, Lock E, Levy S, Hsu DS, Dunson D, Dave SS. The genomic landscape of mantle cell lymphoma is related to the epigenetically determined chromatin state of normal B cells. Blood. 2014 May 8;123(19):2988–2996.
EIF2C4.md
... ...
@@ -1,4 +1,5 @@
1 1
# EIF2C4
2
+
2 3
## History
3 4
4 5
```mermaid
... ...
@@ -7,6 +8,7 @@ timeline
7 8
title Publication timing
8 9
2012-12-01 : Love : BL
9 10
```
11
+
10 12
## Relevance tier by entity
11 13
12 14
|Entity|Tier|Description |
... ...
@@ -26,18 +28,18 @@ timeline
26 28
|
27 29
28 30
29
-> [!NOTE]
30
-> First described in BL in 2012 by [Love C](https://pubmed.ncbi.nlm.nih.gov/23143597)
31 31
32 32
33 33
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/EIF2C4_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/EIF2C4_protein_hg38.html)
34 34
35 35
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/EIF2C4.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/EIF2C4_hg38.html)
36 36
37
-![image](images/proteinpaint/EIF2C4.svg)
37
+![](images/proteinpaint/EIF2C4.svg)
38
+
38 39
## EIF2C4 Expression
39
-![image](images/gene_expression/EIF2C4_by_pathology.svg)
40
+![](images/gene_expression/EIF2C4_by_pathology.svg)
40 41
<!-- ORIGIN: loveGeneticLandscapeMutations2012 -->
41 42
<!-- BL: loveGeneticLandscapeMutations2012 -->
43
+
42 44
## References
43 45
1. Love C, Sun Z, Jima D, Li G, Zhang J, Miles R, Richards KL, Dunphy CH, Choi WWL, Srivastava G, Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers CR, Naresh KN, Evens AM, Chadburn A, Gordon LI, Czader MB, Gill JI, Hsi ED, Greenough A, Moffitt AB, McKinney M, Banerjee A, Grubor V, Levy S, Dunson DB, Dave SS. The genetic landscape of mutations in Burkitt lymphoma. Nat Genet. 2012 Dec;44(12):1321–1325. PMCID: PMC3674561
EIF4A1.md
... ...
@@ -1,4 +1,5 @@
1 1
# EIF4A1
2
+
2 3
## History
3 4
4 5
```mermaid
... ...
@@ -7,6 +8,7 @@ timeline
7 8
title Publication timing
8 9
2019-09-26 : Panea : BL
9 10
```
11
+
10 12
## Relevance tier by entity
11 13
12 14
|Entity|Tier|Description |
... ...
@@ -32,14 +34,16 @@ timeline
32 34
33 35
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/EIF4A1_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/EIF4A1_protein_hg38.html)
34 36
35
-![image](images/proteinpaint/EIF4A1_NM_001416.svg)
37
+![](images/proteinpaint/EIF4A1_NM_001416.svg)
36 38
37 39
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/EIF4A1.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/EIF4A1_hg38.html)
38 40
39
-![image](images/proteinpaint/EIF4A1.svg)
41
+![](images/proteinpaint/EIF4A1.svg)
42
+
40 43
## EIF4A1 Expression
41
-![image](images/gene_expression/EIF4A1_by_pathology.svg)
44
+![](images/gene_expression/EIF4A1_by_pathology.svg)
42 45
<!-- ORIGIN: paneaWholeGenomeLandscape2019 -->
43 46
<!-- BL: paneaWholeGenomeLandscape2019 -->
47
+
44 48
## References
45 49
1. Panea R, Love C, Shingleton JR, Reddy A, Bailey J, Moormann A, Otieno J, Ong’echa J, Oduor C, Schroêder K, Masalu N, Chao N, Agajanian M, Major M, Fedoriw Y, Richards K, Rymkiewicz G, Miles R, Alobeid B, Bhagat G, Flowers C, Ondrejka S, Hsi E, Choi W, Au-Yeung R, Hartmann W, Lenz G, Meyerson H, Lin YY, Zhuang Y, Luftig M, Waldrop A, Dave T, Thakkar D, Sahay H, Li G, Palus B, Seshadri V, Kim S, Gascoyne R, Levy S, Mukhopadhyay M, Dunson D, Dave S. The whole genome landscape of Burkitt lymphoma subtypes. Blood. 2019;
EML2.md
... ...
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# EML2
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## History
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```mermaid
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@@ -7,6 +8,7 @@ timeline
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title Publication timing
8 9
2012-12-01 : Love : BL
9 10
```
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## Relevance tier by entity
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|Entity|Tier|Description |
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30 32
|FL |No |No |3.717 |0 |
31 33
32 34
33
-> [!NOTE]
34
-> First described in BL in 2012 by [Love C](https://pubmed.ncbi.nlm.nih.gov/23143597)
35 35
36 36
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View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/EML2_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/EML2_protein_hg38.html)
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-![image](images/proteinpaint/EML2_NM_012155.svg)
39
+![](images/proteinpaint/EML2_NM_012155.svg)
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View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/EML2.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/EML2_hg38.html)
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43
-![image](images/proteinpaint/EML2.svg)
43
+![](images/proteinpaint/EML2.svg)
44
+
44 45
## EML2 Expression
45
-![image](images/gene_expression/EML2_by_pathology.svg)
46
+![](images/gene_expression/EML2_by_pathology.svg)
46 47
<!-- ORIGIN: loveGeneticLandscapeMutations2012 -->
47 48
<!-- BL: loveGeneticLandscapeMutations2012 -->
49
+
48 50
## References
49 51
1. Love C, Sun Z, Jima D, Li G, Zhang J, Miles R, Richards KL, Dunphy CH, Choi WWL, Srivastava G, Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers CR, Naresh KN, Evens AM, Chadburn A, Gordon LI, Czader MB, Gill JI, Hsi ED, Greenough A, Moffitt AB, McKinney M, Banerjee A, Grubor V, Levy S, Dunson DB, Dave SS. The genetic landscape of mutations in Burkitt lymphoma. Nat Genet. 2012 Dec;44(12):1321–1325. PMCID: PMC3674561
ENTPD3.md
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1 1
# ENTPD3
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## History
3 4
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```mermaid
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@@ -7,6 +8,7 @@ timeline
7 8
title Publication timing
8 9
2012-12-01 : Love : BL
9 10
```
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+
10 12
## Relevance tier by entity
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12 14
|Entity|Tier|Description |
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30 32
|FL |No |No |0.000 | 0.000 |
31 33
32 34
33
-> [!NOTE]
34
-> First described in BL in 2012 by [Love C](https://pubmed.ncbi.nlm.nih.gov/23143597)
35 35
36 36
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View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/ENTPD3_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/ENTPD3_protein_hg38.html)
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-![image](images/proteinpaint/ENTPD3_NM_001248.svg)
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+![](images/proteinpaint/ENTPD3_NM_001248.svg)
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View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/ENTPD3.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/ENTPD3_hg38.html)
42 42
43
-![image](images/proteinpaint/ENTPD3.svg)
43
+![](images/proteinpaint/ENTPD3.svg)
44
+
44 45
## ENTPD3 Expression
45
-![image](images/gene_expression/ENTPD3_by_pathology.svg)
46
+![](images/gene_expression/ENTPD3_by_pathology.svg)
46 47
<!-- ORIGIN: loveGeneticLandscapeMutations2012 -->
47 48
<!-- BL: loveGeneticLandscapeMutations2012 -->
49
+
48 50
## References
49 51
1. Love C, Sun Z, Jima D, Li G, Zhang J, Miles R, Richards KL, Dunphy CH, Choi WWL, Srivastava G, Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers CR, Naresh KN, Evens AM, Chadburn A, Gordon LI, Czader MB, Gill JI, Hsi ED, Greenough A, Moffitt AB, McKinney M, Banerjee A, Grubor V, Levy S, Dunson DB, Dave SS. The genetic landscape of mutations in Burkitt lymphoma. Nat Genet. 2012 Dec;44(12):1321–1325. PMCID: PMC3674561
EP300.md
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1 1
# EP300
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+
2 3
## Overview
3 4
Mutations in EP300 are significant contributors to the pathogenesis and progression of B-cell lymphomas such as DLBCL and FL. These mutations impair histone acetylation, disrupt epigenetic gene regulation. This gene has some recurrent sites of mutations (hot spots), which typically impact its HAT domain, a region crucial for acetylating histones and non-histone proteins.<sup>1,2</sup> Studies using genome-wide CRISPR-Cas9 screens have identified synthetic lethal interactions between CREBBP and EP300, suggesting that targeting one may affect the viability of cells with mutations in the other.<sup>3</sup>
4 5
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11 12
2011-03-10 : Pasqualucci : FL
12 13
2012-08-27 : Rossi : MZL
13 14
```
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## Relevance tier by entity
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|Entity|Tier|Description |
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View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/EP300_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/EP300_protein_hg38.html)
78 80
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-![image](images/proteinpaint/EP300_NM_001429.svg)
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+![](images/proteinpaint/EP300_NM_001429.svg)
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View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/EP300.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/EP300_hg38.html)
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-![image](images/proteinpaint/EP300.svg)
85
+![](images/proteinpaint/EP300.svg)
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## EP300 Expression
86
-![image](images/gene_expression/EP300_by_pathology.svg)
88
+![](images/gene_expression/EP300_by_pathology.svg)
87 89
88 90
## References
89 91
1. *Pasqualucci, L., Dominguez-Sola, D., Chiarenza, A., Fabbri, G., Grunn, A., Trifonov, V., Kasper, L., Lerach, S., Tang, H., Ma, J., Rossi, D., Chadburn, A., Murty, V., Mullighan, C., Gaidano, G., Rabadán, R., Brindle, P., & Dalla-Favera, R. (2010). Inactivating mutations of acetyltransferase genes in B-cell lymphoma. Nature, 471, 189 - 195. https://doi.org/10.1038/nature09730.*
EPHB2.md
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1 1
# EPHB2
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+
2 3
## History
3 4
4 5
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@@ -8,6 +9,7 @@ timeline
8 9
title Publication timing
9 10
2012-12-01 : Love : BL
10 11
```
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+
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## Relevance tier by entity
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13 15
|Entity|Tier|Description |
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@@ -31,20 +33,20 @@ timeline
31 33
|FL |No |No |0.000 |0 |
32 34
33 35
34
-> [!NOTE]
35
-> First described in BL in 2012 by [Love C](https://pubmed.ncbi.nlm.nih.gov/23143597)
36 36
37 37
38 38
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/EPHB2_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/EPHB2_protein_hg38.html)
39 39
40
-![image](images/proteinpaint/EPHB2_NM_017449.svg)
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+![](images/proteinpaint/EPHB2_NM_017449.svg)
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View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/EPHB2.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/EPHB2_hg38.html)
43 43
44
-![image](images/proteinpaint/EPHB2.svg)
44
+![](images/proteinpaint/EPHB2.svg)
45
+
45 46
## EPHB2 Expression
46
-![image](images/gene_expression/EPHB2_by_pathology.svg)
47
+![](images/gene_expression/EPHB2_by_pathology.svg)
47 48
<!-- ORIGIN: loveGeneticLandscapeMutations2012 -->
48 49
<!-- BL: loveGeneticLandscapeMutations2012 -->
50
+
49 51
## References
50 52
1. Love C, Sun Z, Jima D, Li G, Zhang J, Miles R, Richards KL, Dunphy CH, Choi WWL, Srivastava G, Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers CR, Naresh KN, Evens AM, Chadburn A, Gordon LI, Czader MB, Gill JI, Hsi ED, Greenough A, Moffitt AB, McKinney M, Banerjee A, Grubor V, Levy S, Dunson DB, Dave SS. The genetic landscape of mutations in Burkitt lymphoma. Nat Genet. 2012 Dec;44(12):1321–1325. PMCID: PMC3674561
EPPK1.md
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1 1
# EPPK1
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## History
3 4
4 5
```mermaid
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@@ -7,6 +8,7 @@ timeline
7 8
title Publication timing
8 9
2019-09-26 : Panea : BL
9 10
```
11
+
10 12
## Relevance tier by entity
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12 14
|Entity|Tier|Description |
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@@ -38,14 +40,16 @@ timeline
38 40
39 41
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/EPPK1_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/EPPK1_protein_hg38.html)
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-![image](images/proteinpaint/EPPK1_NM_031308.svg)
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+![](images/proteinpaint/EPPK1_NM_031308.svg)
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View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/EPPK1.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/EPPK1_hg38.html)
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45
-![image](images/proteinpaint/EPPK1.svg)
47
+![](images/proteinpaint/EPPK1.svg)
48
+
46 49
## EPPK1 Expression
47
-![image](images/gene_expression/EPPK1_by_pathology.svg)
50
+![](images/gene_expression/EPPK1_by_pathology.svg)
48 51
<!-- ORIGIN: paneaWholeGenomeLandscape2019 -->
49 52
<!-- BL: paneaWholeGenomeLandscape2019 -->
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+
50 54
## References
51 55
1. Panea R, Love C, Shingleton JR, Reddy A, Bailey J, Moormann A, Otieno J, Ong’echa J, Oduor C, Schroêder K, Masalu N, Chao N, Agajanian M, Major M, Fedoriw Y, Richards K, Rymkiewicz G, Miles R, Alobeid B, Bhagat G, Flowers C, Ondrejka S, Hsi E, Choi W, Au-Yeung R, Hartmann W, Lenz G, Meyerson H, Lin YY, Zhuang Y, Luftig M, Waldrop A, Dave T, Thakkar D, Sahay H, Li G, Palus B, Seshadri V, Kim S, Gascoyne R, Levy S, Mukhopadhyay M, Dunson D, Dave S. The whole genome landscape of Burkitt lymphoma subtypes. Blood. 2019;
ERAP1.md
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1 1
# ERAP1
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## History
3 4
4 5
```mermaid
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@@ -7,6 +8,7 @@ timeline
7 8
title Publication timing
8 9
2022-07-06 : Burkhardt : BL
9 10
```
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+
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## Relevance tier by entity
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|Entity|Tier|Description |
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@@ -30,20 +32,20 @@ timeline
30 32
|FL |No |No |0.000 |0 |
31 33
32 34
33
-> [!NOTE]
34
-> First described in BL in 2022 by [Burkhardt B](https://pubmed.ncbi.nlm.nih.gov/35794096)
35 35
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View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/ERAP1_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/ERAP1_protein_hg38.html)
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-![image](images/proteinpaint/ERAP1_NM_016442.svg)
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+![](images/proteinpaint/ERAP1_NM_016442.svg)
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View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/ERAP1.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/ERAP1_hg38.html)
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-![image](images/proteinpaint/ERAP1.svg)
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+![](images/proteinpaint/ERAP1.svg)
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+
44 45
## ERAP1 Expression
45
-![image](images/gene_expression/ERAP1_by_pathology.svg)
46
+![](images/gene_expression/ERAP1_by_pathology.svg)
46 47
<!-- ORIGIN: burkhardtClinicalRelevanceMolecular2022b -->
47 48
<!-- BL: burkhardtClinicalRelevanceMolecular2022b -->
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+
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## References
49 51
1. Burkhardt B, Michgehl U, Rohde J, Erdmann T, Berning P, Reutter K, Rohde M, Borkhardt A, Burmeister T, Dave S, Tzankov A, Dugas M, Sandmann S, Fend F, Finger J, Mueller S, Gökbuget N, Haferlach T, Kern W, Hartmann W, Klapper W, Oschlies I, Richter J, Kontny U, Lutz M, Maecker-Kolhoff B, Ott G, Rosenwald A, Siebert R, von Stackelberg A, Strahm B, Woessmann W, Zimmermann M, Zapukhlyak M, Grau M, Lenz G. Clinical relevance of molecular characteristics in Burkitt lymphoma differs according to age. Nat Commun. 2022 Jul 6;13(1):3881. PMCID: PMC9259584
ESX1.md
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1 1
# ESX1
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+
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## History
3 4
4 5
```mermaid
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@@ -7,6 +8,7 @@ timeline
7 8
title Publication timing
8 9
2014-05-08 : Zhang : MCL
9 10
```
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+
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## Relevance tier by entity
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|Entity|Tier|Description |
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@@ -28,20 +30,20 @@ timeline
28 30
|FL |No |No |0.000 |0 |
29 31
30 32
31
-> [!NOTE]
32
-> First described in MCL in 2014 by [Zhang J](https://pubmed.ncbi.nlm.nih.gov/24682267)
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View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/ESX1_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/ESX1_protein_hg38.html)
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-![image](images/proteinpaint/ESX1_NM_153448.svg)
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+![](images/proteinpaint/ESX1_NM_153448.svg)
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View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/ESX1.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/ESX1_hg38.html)
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41
-![image](images/proteinpaint/ESX1.svg)
41
+![](images/proteinpaint/ESX1.svg)
42
+
42 43
## ESX1 Expression
43
-![image](images/gene_expression/ESX1_by_pathology.svg)
44
+![](images/gene_expression/ESX1_by_pathology.svg)
44 45
<!-- ORIGIN: zhangGenomicLandscapeMantle2014 -->
45 46
<!-- MCL: zhangGenomicLandscapeMantle2014 -->
47
+
46 48
## References
47 49
1. Zhang J, Jima D, Moffitt AB, Liu Q, Czader M, Hsi ED, Fedoriw Y, Dunphy CH, Richards KL, Gill JI, Sun Z, Love C, Scotland P, Lock E, Levy S, Hsu DS, Dunson D, Dave SS. The genomic landscape of mantle cell lymphoma is related to the epigenetically determined chromatin state of normal B cells. Blood. 2014 May 8;123(19):2988–2996.
ETS1.md
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1 1
# ETS1
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+
2 3
## Overview
3 4
ETS1 is one of [a number of genes](https://github.com/morinlab/LLMPP/wiki/ashm) affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus. This gene has some recurrent sites of mutations (hot spots). The mutation pattern in DLBCL implies the preferential accumulation of *inactivating mutations*.
4 5
## History
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@@ -9,6 +10,7 @@ timeline
9 10
2011-07-27 : Morin : DLBCL
10 11
2019-09-26 : Panea : BL
11 12
```
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+
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## Relevance tier by entity
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14 16
|Entity|Tier|Description |
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@@ -70,14 +72,14 @@ timeline
70 72
71 73
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/ETS1_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/ETS1_protein_hg38.html)
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-![image](images/proteinpaint/ETS1_NM_001143820.svg)
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+![](images/proteinpaint/ETS1_NM_001143820.svg)
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View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/ETS1.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/ETS1_hg38.html)
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-![image](images/proteinpaint/ETS1.svg)
79
+![](images/proteinpaint/ETS1.svg)
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79 81
## ETS1 Expression
80
-![image](images/gene_expression/ETS1_by_pathology.svg)
82
+![](images/gene_expression/ETS1_by_pathology.svg)
81 83
82 84
## References
83 85
1. *Morin RD, Mendez-Lago M, Mungall AJ, Goya R, Mungall KL, Corbett RD, Johnson NA, Severson TM, Chiu R, Field M, Jackman S, Krzywinski M, Scott DW, Trinh DL, Tamura-Wells J, Li S, Firme MR, Rogic S, Griffith M, Chan S, Yakovenko O, Meyer IM, Zhao EY, Smailus D, Moksa M, Chittaranjan S, Rimsza L, Brooks-Wilson A, Spinelli JJ, Ben-Neriah S, Meissner B, Woolcock B, Boyle M, McDonald H, Tam A, Zhao Y, Delaney A, Zeng T, Tse K, Butterfield Y, Birol I, Holt R, Schein J, Horsman DE, Moore R, Jones SJ, Connors JM, Hirst M, Gascoyne RD, Marra MA. Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma. Nature. 2011 Jul 27;476(7360):298-303. doi: 10.1038/nature10351. PMID: 21796119; PMCID: PMC3210554.*
ETV6.md
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@@ -1,4 +1,5 @@
1 1
# ETV6
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+
2 3
## Overview
3 4
ETV6 is one of [a number of genes](https://github.com/morinlab/LLMPP/wiki/ashm) affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus. The prevalence of mutations in DLBCL has varied across different studies and may occur in as many as 10% of patients. This gene has some recurrent sites of mutations (hot spots) including multiple mutations predicted to affect splicing of ETV6 pre-mRNA. The mutation pattern in DLBCL mplies the preferential accumulation of *inactivating mutations*. Coding and non-coding mutations in this gene are associated with the MCD genetic subgroup of DLBCL.
4 5
## History
... ...
@@ -9,6 +10,7 @@ timeline
9 10
title Publication timing
10 11
2018-10-01 : Arthur : DLBCL
11 12
```
13
+
12 14
## Relevance tier by entity
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14 16
|Entity|Tier|Description |
... ...
@@ -50,14 +52,16 @@ timeline
50 52
51 53
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/ETV6_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/ETV6_protein_hg38.html)
52 54
53
-![image](images/proteinpaint/ETV6_NM_001987.svg)
55
+![](images/proteinpaint/ETV6_NM_001987.svg)
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55 57
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/ETV6.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/ETV6_hg38.html)
56 58
57
-![image](images/proteinpaint/ETV6.svg)
59
+![](images/proteinpaint/ETV6.svg)
60
+
58 61
## ETV6 Expression
59
-![image](images/gene_expression/ETV6_by_pathology.svg)
62
+![](images/gene_expression/ETV6_by_pathology.svg)
60 63
<!-- ORIGIN: arthurGenomewideDiscoverySomatic2018 -->
61 64
<!-- DLBCL: arthurGenomewideDiscoverySomatic2018 -->
65
+
62 66
## References
63 67
1. Arthur SE, Jiang A, Grande BM, Alcaide M, Cojocaru R, Rushton CK, Mottok A, Hilton LK, Lat PK, Zhao EY, Culibrk L, Ennishi D, Jessa S, Chong L, Thomas N, Pararajalingam P, Meissner B, Boyle M, Davidson J, Bushell KR, Lai D, Farinha P, Slack GW, Morin GB, Shah S, Sen D, Jones SJM, Mungall AJ, Gascoyne RD, Audas TE, Unrau P, Marra MA, Connors JM, Steidl C, Scott DW, Morin RD. Genome-wide discovery of somatic regulatory variants in diffuse large B-cell lymphoma. Nat Commun. 2018 Oct 1;9(1):4001. PMCID: PMC6167379
EWSR1.md
... ...
@@ -6,6 +6,7 @@ timeline
6 6
title Publication timing
7 7
2020-07-30 : Pararajalingam : MCL
8 8
```
9
+
9 10
## Relevance tier by entity
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11 12
|Entity|Tier|Description |
... ...
@@ -28,20 +29,20 @@ timeline
28 29
|FL |No |No |3.052 |0.00 |
29 30
30 31
31
-> [!NOTE]
32
-> First described in MCL in 2020 by [Pararajalingam P](https://pubmed.ncbi.nlm.nih.gov/32160292)
33 32
34 33
35 34
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/EWSR1_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/EWSR1_protein_hg38.html)
36 35
37
-![image](images/proteinpaint/EWSR1_NM_013986.svg)
36
+![](images/proteinpaint/EWSR1_NM_013986.svg)
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View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/EWSR1.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/EWSR1_hg38.html)
40 39
41
-![image](images/proteinpaint/EWSR1.svg)
40
+![](images/proteinpaint/EWSR1.svg)
41
+
42 42
## EWSR1 Expression
43
-![image](images/gene_expression/EWSR1_by_pathology.svg)
43
+![](images/gene_expression/EWSR1_by_pathology.svg)
44 44
<!-- ORIGIN: pararajalingamCodingNoncodingDrivers2020 -->
45 45
<!-- MCL: pararajalingamCodingNoncodingDrivers2020 -->
46
+
46 47
## References
47 48
1. Pararajalingam P, Coyle KM, Arthur SE, Thomas N, Alcaide M, Meissner B, Boyle M, Qureshi Q, Grande BM, Rushton C, Slack GW, Mungall AJ, Tam CS, Agarwal R, Dawson SJ, Lenz G, Balasubramanian S, Gascoyne RD, Steidl C, Connors J, Villa D, Audas TE, Marra MA, Johnson NA, Scott DW, Morin RD. Coding and noncoding drivers of mantle cell lymphoma identified through exome and genome sequencing. Blood. 2020 Jul 30;136(5):572–584. PMCID: PMC7440974
EXOSC6.md
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@@ -1,4 +1,5 @@
1 1
# EXOSC6
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -6,6 +7,7 @@ timeline
6 7
title Publication timing
7 8
2012-10-04 : Schmitz : BL
8 9
```
10
+
9 11
## Relevance tier by entity
10 12
11 13
|Entity|Tier|Description |
... ...
@@ -29,20 +31,20 @@ timeline
29 31
|FL |No |No |0 |0 |
30 32
31 33
32
-> [!NOTE]
33
-> First described in BL in 2022 by [Burkhardt B](https://pubmed.ncbi.nlm.nih.gov/35794096)
34 34
35 35
36 36
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/EXOSC6_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/EXOSC6_protein_hg38.html)
37 37
38
-![image](images/proteinpaint/EXOSC6_NM_058219.svg)
38
+![](images/proteinpaint/EXOSC6_NM_058219.svg)
39 39
40 40
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/EXOSC6.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/EXOSC6_hg38.html)
41 41
42
-![image](images/proteinpaint/EXOSC6.svg)
42
+![](images/proteinpaint/EXOSC6.svg)
43
+
43 44
## EXOSC6 Expression
44
-![image](images/gene_expression/EXOSC6_by_pathology.svg)
45
+![](images/gene_expression/EXOSC6_by_pathology.svg)
45 46
<!-- ORIGIN: schmitzBurkittLymphomaPathogenesis2012 -->
46 47
<!-- BL: schmitzBurkittLymphomaPathogenesis2012 -->
48
+
47 49
## References
48 50
1. Schmitz R, Young RM, Ceribelli M, Jhavar S, Xiao W, Zhang M, Wright G, Shaffer AL, Hodson DJ, Buras E, Liu X, Powell J, Yang Y, Xu W, Zhao H, Kohlhammer H, Rosenwald A, Kluin P, Müller-Hermelink HK, Ott G, Gascoyne RD, Connors JM, Rimsza LM, Campo E, Jaffe ES, Delabie J, Smeland EB, Ogwang MD, Reynolds SJ, Fisher RI, Braziel RM, Tubbs RR, Cook JR, Weisenburger DD, Chan WC, Pittaluga S, Wilson W, Waldmann TA, Rowe M, Mbulaiteye SM, Rickinson AB, Staudt LM. Burkitt lymphoma pathogenesis and therapeutic targets from structural and functional genomics. Nature. 2012 Oct 4;490(7418):116–120. PMCID: PMC3609867
EZH2.md
... ...
@@ -1,4 +1,3 @@
1
-
2 1
# EZH2
3 2
4 3
## Overview
EZR.md
... ...
@@ -1,4 +1,5 @@
1 1
# EZR
2
+
2 3
## History
3 4
4 5
```mermaid
... ...
@@ -7,6 +8,7 @@ timeline
7 8
title Publication timing
8 9
2019-08-20 : Desch : PMBL
9 10
```
11
+
10 12
## Relevance tier by entity
11 13
12 14
|Entity|Tier|Description |
... ...
@@ -40,14 +42,16 @@ timeline
40 42
41 43
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/EZR_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/EZR_protein_hg38.html)
42 44
43
-![image](images/proteinpaint/EZR_NM_003379.svg)
45
+![](images/proteinpaint/EZR_NM_003379.svg)
44 46
45 47
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/EZR.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/EZR_hg38.html)
46 48
47
-![image](images/proteinpaint/EZR.svg)
49
+![](images/proteinpaint/EZR.svg)
50
+
48 51
## EZR Expression
49
-![image](images/gene_expression/EZR_by_pathology.svg)
52
+![](images/gene_expression/EZR_by_pathology.svg)
50 53
<!-- ORIGIN: deschGenotypingCirculatingTumor2020 -->
51 54
<!-- PMBL: deschGenotypingCirculatingTumor2020 -->
55
+
52 56
## References
53 57
1. Desch AK, Hartung K, Botzen A, Brobeil A, Rummel M, Kurch L, Georgi T, Jox T, Bielack S, Burdach S, Classen CF, Claviez A, Debatin KM, Ebinger M, Eggert A, Faber J, Flotho C, Frühwald M, Graf N, Jorch N, Kontny U, Kramm C, Kulozik A, Kühr J, Sykora KW, Metzler M, Müller HL, Nathrath M, Nüßlein T, Paulussen M, Pekrun A, Reinhardt D, Reinhard H, Rössig C, Sauerbrey A, Schlegel PG, Schneider DT, Scheurlen W, Schweigerer L, Simon T, Suttorp M, Vorwerk P, Schmitz R, Kluge R, Mauz-Körholz C, Körholz D, Gattenlöhner S, Bräuninger A. Genotyping circulating tumor DNA of pediatric Hodgkin lymphoma. Leukemia. 2020 Jan;34(1):151–166. PMID: 31431735
FAM102A.md
... ...
@@ -32,11 +32,14 @@
32 32
33 33
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/FAM102A_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/FAM102A_protein_hg38.html)
34 34
35
-![image](images/proteinpaint/FAM102A_NM_001035254.svg)
35
+![](images/proteinpaint/FAM102A_NM_001035254.svg)
36 36
37 37
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/FAM102A.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/FAM102A_hg38.html)
38 38
39
-![image](images/proteinpaint/FAM102A.svg)
39
+![](images/proteinpaint/FAM102A.svg)
40
+
40 41
## FAM102A Expression
41
-![image](images/gene_expression/FAM102A_by_pathology.svg)
42
+![](images/gene_expression/FAM102A_by_pathology.svg)
42 43
<!-- ORIGIN: Unknown -->
44
+
45
+## References
FAM129B.md
... ...
@@ -1,4 +1,5 @@
1 1
# FAM129B
2
+
2 3
## History
3 4
4 5
```mermaid
... ...
@@ -7,6 +8,7 @@ timeline
7 8
title Publication timing
8 9
2012-12-01 : Love : BL
9 10
```
11
+
10 12
## Relevance tier by entity
11 13
12 14
|Entity|Tier|Description |
... ...
@@ -30,18 +32,18 @@ timeline
30 32
|FL |No |No |2.483 | 0.000 |
31 33
32 34
33
-> [!NOTE]
34
-> First described in BL in 2012 by [Love C](https://pubmed.ncbi.nlm.nih.gov/23143597)
35 35
36 36
37 37
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/FAM129B_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/FAM129B_protein_hg38.html)
38 38
39 39
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/FAM129B.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/FAM129B_hg38.html)
40 40
41
-![image](images/proteinpaint/FAM129B.svg)
41
+![](images/proteinpaint/FAM129B.svg)
42
+
42 43
## FAM129B Expression
43
-![image](images/gene_expression/FAM129B_by_pathology.svg)
44
+![](images/gene_expression/FAM129B_by_pathology.svg)
44 45
<!-- ORIGIN: loveGeneticLandscapeMutations2012 -->
45 46
<!-- BL: loveGeneticLandscapeMutations2012 -->
47
+
46 48
## References
47 49
1. Love C, Sun Z, Jima D, Li G, Zhang J, Miles R, Richards KL, Dunphy CH, Choi WWL, Srivastava G, Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers CR, Naresh KN, Evens AM, Chadburn A, Gordon LI, Czader MB, Gill JI, Hsi ED, Greenough A, Moffitt AB, McKinney M, Banerjee A, Grubor V, Levy S, Dunson DB, Dave SS. The genetic landscape of mutations in Burkitt lymphoma. Nat Genet. 2012 Dec;44(12):1321–1325. PMCID: PMC3674561
FAM38B.md
... ...
@@ -1,4 +1,5 @@
1 1
# FAM38B
2
+
2 3
## History
3 4
4 5
```mermaid
... ...
@@ -7,6 +8,7 @@ timeline
7 8
title Publication timing
8 9
2013-08-15 : Morin : DLBCL
9 10
```
11
+
10 12
## Relevance tier by entity
11 13
12 14
|Entity|Tier|Description |
... ...
@@ -27,11 +29,10 @@ timeline
27 29
|
28 30
29 31
30
-> [!NOTE]
31
-> First described in DLBCL in 2013 by [Morin RD](https://pubmed.ncbi.nlm.nih.gov/23699601)
32 32
## FAM38B Expression
33
-![image](images/gene_expression/FAM38B_by_pathology.svg)
33
+![](images/gene_expression/FAM38B_by_pathology.svg)
34 34
<!-- ORIGIN: morinMutationalStructuralAnalysis2013 -->
35 35
<!-- DLBCL: morinMutationalStructuralAnalysis2013 -->
36
+
36 37
## References
37 38
1. Morin RD, Mungall K, Pleasance E, Mungall AJ, Goya R, Huff RD, Scott DW, Ding J, Roth A, Chiu R, Corbett RD, Chan FC, Mendez-Lago M, Trinh DL, Bolger-Munro M, Taylor G, Hadj Khodabakhshi A, Ben-Neriah S, Pon J, Meissner B, Woolcock B, Farnoud N, Rogic S, Lim EL, Johnson NA, Shah S, Jones S, Steidl C, Holt R, Birol I, Moore R, Connors JM, Gascoyne RD, Marra MA. Mutational and structural analysis of diffuse large B-cell lymphoma using whole-genome sequencing. Blood. 2013 Aug 15;122(7):1256–1265. PMCID: PMC3744992
FANK1.md
... ...
@@ -32,11 +32,14 @@
32 32
33 33
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/FANK1_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/FANK1_protein_hg38.html)
34 34
35
-![image](images/proteinpaint/FANK1_NM_145235.svg)
35
+![](images/proteinpaint/FANK1_NM_145235.svg)
36 36
37 37
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/FANK1.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/FANK1_hg38.html)
38 38
39
-![image](images/proteinpaint/FANK1.svg)
39
+![](images/proteinpaint/FANK1.svg)
40
+
40 41
## FANK1 Expression
41
-![image](images/gene_expression/FANK1_by_pathology.svg)
42
+![](images/gene_expression/FANK1_by_pathology.svg)
42 43
<!-- ORIGIN: Unknown -->
44
+
45
+## References
FAS.md
... ...
@@ -1,4 +1,5 @@
1 1
# FAS
2
+
2 3
## Overview
3 4
FAS encodes a cell surface receptor involved in the induction of apoptosis. FAS mutations are common in DLBCL and may be more frequent in primary gastric DLBCL.<sup>1,2</sup> Mutations also occur in FL at a lower rate.<sup>3</sup> Although reported in one BL study,<sup>4</sup> overall the evidence for FAS mutations in BL remains sparse. Mutations in FAS often lead to a loss of function, making lymphoma cells resistant to Fas ligand-induced apoptosis, thereby allowing malignant cells to evade immune surveillance.<sup>5</sup> In mouse models, Fas mutations led to a significantly shorter lymphoma-specific survival and reduced sensitivity to chemotherapy.<sup>5</sup>
4 5
## History
... ...
@@ -9,6 +10,7 @@ timeline
9 10
2007-05-01 : Scholl : DLBCL
10 11
2016-09-08 : Spina : MZL
11 12
```
13
+
12 14
## Relevance tier by entity
13 15
14 16
|Entity|Tier|Description |
... ...
@@ -42,11 +44,11 @@ timeline
42 44
43 45
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/FAS_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/FAS_protein_hg38.html)
44 46
45
-![image](images/proteinpaint/FAS_NM_000043.svg)
47
+![](images/proteinpaint/FAS_NM_000043.svg)
46 48
47 49
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/FAS.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/FAS_hg38.html)
48 50
49
-![image](images/proteinpaint/FAS.svg)
51
+![](images/proteinpaint/FAS.svg)
50 52
51 53
## References
52 54
... ...
@@ -56,7 +58,7 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/F
56 58
4. *Panea RI, Love CL, Shingleton JR, Reddy A, Bailey JA, Moormann AM, Otieno JA, Ong'echa JM, Oduor CI, Schroeder KMS, Masalu N, Chao NJ, Agajanian M, Major MB, Fedoriw Y, Richards KL, Rymkiewicz G, Miles RR, Alobeid B, Bhagat G, Flowers CR, Ondrejka SL, Hsi ED, Choi WWL, Au-Yeung RKH, Hartmann W, Lenz G, Meyerson H, Lin YY, Zhuang Y, Luftig MA, Waldrop A, Dave T, Thakkar D, Sahay H, Li G, Palus BC, Seshadri V, Kim SY, Gascoyne RD, Levy S, Mukhopadyay M, Dunson DB, Dave SS. The whole-genome landscape of Burkitt lymphoma subtypes. Blood. 2019 Nov 7;134(19):1598-1607. doi: 10.1182/blood.2019001880. Erratum in: Blood. 2022 Feb 24;139(8):1256. Erratum in: Blood. 2023 Sep 7;142(10):940. PMID: 31558468; PMCID: PMC6871305.*
57 59
5. *Rys, R., Venkataraman, M., Zeng, J., Mann, K., & Johnson, N. (2019). Fas Mutations in Non-Hodgkin's Lymphoma (NHL): Implications for Disease Progression and Therapeutic Resistance. Blood. https://doi.org/10.1182/blood-2019-130602.*
58 60
## FAS Expression
59
-![image](images/gene_expression/FAS_by_pathology.svg)
61
+![](images/gene_expression/FAS_by_pathology.svg)
60 62
<!-- ORIGIN: schollMutationsRegionFAS2007 -->
61 63
<!-- DLBCL: schollMutationsRegionFAS2007 -->
62 64
<!-- MZL: spinaGeneticsNodalMarginal2016b -->
FAT4.md
... ...
@@ -1,4 +1,5 @@
1 1
# FAT4
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -8,6 +9,7 @@ timeline
8 9
2013-12-13 : Parry : MZL
9 10
2014-05-08 : Zhang : MCL
10 11
```
12
+
11 13
## Relevance tier by entity
12 14
13 15
|Entity|Tier|Description |
... ...
@@ -36,23 +38,23 @@ timeline
36 38
|FL |No |No |0.000 |0.000 |
37 39
38 40
39
-> [!NOTE]
40
-> First described in DLBCL in 2013 by [Morin RD](https://pubmed.ncbi.nlm.nih.gov/23699601). First described in MCL in 2014 by [Zhang J](https://pubmed.ncbi.nlm.nih.gov/24682267)
41 41
42 42
43 43
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/FAT4_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/FAT4_protein_hg38.html)
44 44
45
-![image](images/proteinpaint/FAT4_NM_024582.svg)
45
+![](images/proteinpaint/FAT4_NM_024582.svg)
46 46
47 47
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/FAT4.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/FAT4_hg38.html)
48 48
49
-![image](images/proteinpaint/FAT4.svg)
49
+![](images/proteinpaint/FAT4.svg)
50
+
50 51
## FAT4 Expression
51
-![image](images/gene_expression/FAT4_by_pathology.svg)
52
+![](images/gene_expression/FAT4_by_pathology.svg)
52 53
<!-- ORIGIN: morinMutationalStructuralAnalysis2013 -->
53 54
<!-- DLBCL: morinMutationalStructuralAnalysis2013 -->
54 55
<!-- MCL: zhangGenomicLandscapeMantle2014 -->
55 56
<!-- MZL: parryWholeExomeSequencing2013 -->
57
+
56 58
## References
57 59
1. Morin RD, Mungall K, Pleasance E, Mungall AJ, Goya R, Huff RD, Scott DW, Ding J, Roth A, Chiu R, Corbett RD, Chan FC, Mendez-Lago M, Trinh DL, Bolger-Munro M, Taylor G, Hadj Khodabakhshi A, Ben-Neriah S, Pon J, Meissner B, Woolcock B, Farnoud N, Rogic S, Lim EL, Johnson NA, Shah S, Jones S, Steidl C, Holt R, Birol I, Moore R, Connors JM, Gascoyne RD, Marra MA. Mutational and structural analysis of diffuse large B-cell lymphoma using whole-genome sequencing. Blood. 2013 Aug 15;122(7):1256–1265. PMCID: PMC3744992
58 60
2. Parry M, Rose-Zerilli MJJ, Gibson J, Ennis S, Walewska R, Forster J, Parker H, Davis Z, Gardiner A, Collins A, Oscier DG, Strefford JC. Whole exome sequencing identifies novel recurrently mutated genes in patients with splenic marginal zone lymphoma. PLoS One. 2013;8(12):e83244. PMCID: PMC3862727
FBXO11.md
... ...
@@ -1,4 +1,5 @@
1 1
# FBXO11
2
+
2 3
## Overview
3 4
Somatic mutations in FBXO11 are common in BL<sup>1,2</sup> and appear in a small number of DLBCLs.<sup>3</sup> This gene has some recurrent sites of mutations (hot spots). Mutations lead to stabilization of BCL6, an important transcriptional repressor involved in lymphomagenesis.<sup>4</sup> These mutations present a potential novel target for therapeutic intervention, particularly through strategies aimed at degrading BCL6 or inhibiting its function.<sup>4</sup>
4 5
... ...
@@ -13,6 +14,7 @@ timeline
13 14
2013-12-13 : Parry : MZL
14 15
2021-05-05 : H : DLBCL
15 16
```
17
+
16 18
## Relevance tier by entity
17 19
18 20
|Entity|Tier|Description |
... ...
@@ -42,8 +44,6 @@ timeline
42 44
|FL |No |No | 8.837 | 0.000 |
43 45
44 46
45
-> [!NOTE]
46
-> First described in BL in 2015 by Pighi et al<sup>1</sup> and described in DLBCL in 2021 by Hübschmann et al.<sup>5</sup>
47 47
48 48
## FBXO11 hot spots
49 49
|Chromosome|Coordinate|Mutation|HGVSp|
... ...
@@ -67,11 +67,11 @@ timeline
67 67
68 68
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/FBXO11_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/FBXO11_protein_hg38.html)
69 69
70
-![image](images/proteinpaint/FBXO11_NM_025133.svg)
70
+![](images/proteinpaint/FBXO11_NM_025133.svg)
71 71
72 72
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/FBXO11.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/FBXO11_hg38.html)
73 73
74
-![image](images/proteinpaint/FBXO11.svg)
74
+![](images/proteinpaint/FBXO11.svg)
75 75
76 76
## References
77 77
1. *Pighi, C., Compagno, M., Wang, Q., Cheong, T., Poggio, T., Langellotto, F., Celle, P., Zamó, A., & Chiarle, R. (2015). FBXO11, a Regulator of BCL6 Stability, Is Recurrently Mutated in Burkitt Lymphoma. Blood, 126, 3673-3673. https://doi.org/10.1182/BLOOD.V126.23.3673.3673.*
... ...
@@ -80,7 +80,7 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/F
80 80
4. *Pighi, C., Cheong, T., Compagno, M., Patrucco, E., Arigoni, M., Olivero, M., Wang, Q., López, C., Bernhart, S., Grande, B., Poggio, T., Langellotto, F., Bonello, L., Dall’Olio, R., Martínez-Martín, S., Molinaro, L., Celle, P., Whitfield, J., Soucek, L., Voena, C., Calogero, R., Morin, R., Staudt, L., Siebert, R., Zamó, A., & Chiarle, R. (2021). Frequent mutations of FBXO11 highlight BCL6 as a therapeutic target in Burkitt lymphoma.. Blood advances. https://doi.org/10.1182/bloodadvances.2021005682.*
81 81
5. *Hübschmann D, Kleinheinz K, Wagener R, Bernhart SH, López C, Toprak UH, Sungalee S, Ishaque N, Kretzmer H, Kreuz M, Waszak SM, Paramasivam N, Ammerpohl O, Aukema SM, Beekman R, Bergmann AK, Bieg M, Binder H, Borkhardt A, Borst C, Brors B, Bruns P, Carrillo de Santa Pau E, Claviez A, Doose G, Haake A, Karsch D, Haas S, Hansmann ML, Hoell JI, Hovestadt V, Huang B, Hummel M, Jäger-Schmidt C, Kerssemakers JNA, Korbel JO, Kube D, Lawerenz C, Lenze D, Martens JHA, Ott G, Radlwimmer B, Reisinger E, Richter J, Rico D, Rosenstiel P, Rosenwald A, Schillhabel M, Stilgenbauer S, Stadler PF, Martín-Subero JI, Szczepanowski M, Warsow G, Weniger MA, Zapatka M, Valencia A, Stunnenberg HG, Lichter P, Möller P, Loeffler M, Eils R, Klapper W, Hoffmann S, Trümper L; ICGC MMML-Seq consortium; ICGC DE-Mining consortium; BLUEPRINT consortium; Küppers R, Schlesner M, Siebert R. Mutational mechanisms shaping the coding and noncoding genome of germinal center derived B-cell lymphomas. Leukemia. 2021 Jul;35(7):2002-2016. doi: 10.1038/s41375-021-01251-z. Epub 2021 May 5. PMID: 33953289; PMCID: PMC8257491.*
82 82
## FBXO11 Expression
83
-![image](images/gene_expression/FBXO11_by_pathology.svg)
83
+![](images/gene_expression/FBXO11_by_pathology.svg)
84 84
<!-- ORIGIN: parryWholeExomeSequencing2013 -->
85 85
<!-- BL: richterRecurrentMutationID32012a -->
86 86
<!-- MZL: parryWholeExomeSequencing2013 -->
FBXW7.md
... ...
@@ -1,4 +1,5 @@
1 1
# FBXW7
2
+
2 3
## Overview
3 4
FBXW7 mutations are found in a range of lymphoid malignancies, including B-cell lymphomas. These mutations often include missense mutations, deletions, frameshift mutations and splice-site mutations. Overall, these mutations are relatively rare in DLBCL and occur more frequently in other solid tumors as well as T-cell acute lymphocytic leukemia.<sup>1</sup> The most commonly observed mutations in those cancers are the hot spots R465 and R479.<sup>1</sup> In leukemias, FBXW7 mutations enhance the activity of leukemia-initiating cells by stabilizing oncogenic MYC.<sup>2</sup> Whether they have this role in DLBCL remains to be determined.
4 5
## History
... ...
@@ -8,6 +9,7 @@ timeline
8 9
title Publication timing
9 10
2013-01-01 : Zhang : DLBCL
10 11
```
12
+
11 13
## Relevance tier by entity
12 14
13 15
|Entity|Tier|Description |
... ...
@@ -35,16 +37,16 @@ timeline
35 37
36 38
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/FBXW7_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/FBXW7_protein_hg38.html)
37 39
38
-![image](images/proteinpaint/FBXW7_NM_033632.svg)
40
+![](images/proteinpaint/FBXW7_NM_033632.svg)
39 41
40 42
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/FBXW7.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/FBXW7_hg38.html)
41 43
42
-![image](images/proteinpaint/FBXW7.svg)
44
+![](images/proteinpaint/FBXW7.svg)
43 45
44 46
## References
45 47
1. *Akhoondi, S., Sun, D., Lehr, N., Apostolidou, S., Klotz, K., Maljukova, A., Cepeda, D., Fiegl, H., Dafou, D., Marth, C., Mueller-Holzner, E., Corcoran, M., Dagnell, M., Nejad, S., Nayer, B., Zali, M., Hansson, J., Egyhazi, S., Petersson, F., Sangfelt, P., Nordgren, H., Grandér, D., Reed, S., Widschwendter, M., Sangfelt, O., & Spruck, C. (2007). FBXW7/hCDC4 is a general tumor suppressor in human cancer.. Cancer research, 67 19, 9006-12 . https://doi.org/10.1158/0008-5472.CAN-07-1320.*
46 48
2. *King, B., Trimarchi, T., Reavie, L., Xu, L., Mullenders, J., Ntziachristos, P., Aranda-Orgilles, B., Pérez-García, A., Shi, J., Vakoc, C., Sandy, P., Shen, S., Ferrando, A., & Aifantis, I. (2013). The Ubiquitin Ligase FBXW7 Modulates Leukemia-Initiating Cell Activity by Regulating MYC Stability. Cell, 153, 1552-1566. https://doi.org/10.1016/j.cell.2013.05.041.*
47 49
## FBXW7 Expression
48
-![image](images/gene_expression/FBXW7_by_pathology.svg)
50
+![](images/gene_expression/FBXW7_by_pathology.svg)
49 51
<!-- ORIGIN: zhangGeneticHeterogeneityDiffuse2013 -->
50 52
<!-- DLBCL: zhangGeneticHeterogeneityDiffuse2013 -->
FCRL3.md
... ...
@@ -32,11 +32,14 @@
32 32
33 33
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/FCRL3_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/FCRL3_protein_hg38.html)
34 34
35
-![image](images/proteinpaint/FCRL3_NM_052939.svg)
35
+![](images/proteinpaint/FCRL3_NM_052939.svg)
36 36
37 37
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/FCRL3.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/FCRL3_hg38.html)
38 38
39
-![image](images/proteinpaint/FCRL3.svg)
39
+![](images/proteinpaint/FCRL3.svg)
40
+
40 41
## FCRL3 Expression
41
-![image](images/gene_expression/FCRL3_by_pathology.svg)
42
+![](images/gene_expression/FCRL3_by_pathology.svg)
42 43
<!-- ORIGIN: Unknown -->
44
+
45
+## References
FGFR3.md
... ...
@@ -1,4 +1,5 @@
1 1
# FGFR3
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -6,6 +7,7 @@ timeline
6 7
title Publication timing
7 8
2012-12-01 : Love : BL
8 9
```
10
+
9 11
## Relevance tier by entity
10 12
11 13
|Entity|Tier|Description |
... ...
@@ -29,20 +31,20 @@ timeline
29 31
|FL |No |No |0.000 |0 |
30 32
31 33
32
-> [!NOTE]
33
-> First described in BL in 2012 by [Love C](https://pubmed.ncbi.nlm.nih.gov/23143597)
34 34
35 35
36 36
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/FGFR3_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/FGFR3_protein_hg38.html)
37 37
38
-![image](images/proteinpaint/FGFR3_NM_000142.svg)
38
+![](images/proteinpaint/FGFR3_NM_000142.svg)
39 39
40 40
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/FGFR3.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/FGFR3_hg38.html)
41 41
42
-![image](images/proteinpaint/FGFR3.svg)
42
+![](images/proteinpaint/FGFR3.svg)
43
+
43 44
## FGFR3 Expression
44
-![image](images/gene_expression/FGFR3_by_pathology.svg)
45
+![](images/gene_expression/FGFR3_by_pathology.svg)
45 46
<!-- ORIGIN: loveGeneticLandscapeMutations2012 -->
46 47
<!-- BL: loveGeneticLandscapeMutations2012 -->
48
+
47 49
## References
48 50
1. Love C, Sun Z, Jima D, Li G, Zhang J, Miles R, Richards KL, Dunphy CH, Choi WWL, Srivastava G, Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers CR, Naresh KN, Evens AM, Chadburn A, Gordon LI, Czader MB, Gill JI, Hsi ED, Greenough A, Moffitt AB, McKinney M, Banerjee A, Grubor V, Levy S, Dunson DB, Dave SS. The genetic landscape of mutations in Burkitt lymphoma. Nat Genet. 2012 Dec;44(12):1321–1325. PMCID: PMC3674561
FLYWCH1.md
... ...
@@ -1,4 +1,5 @@
1 1
# FLYWCH1
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -6,6 +7,7 @@ timeline
6 7
title Publication timing
7 8
2012-10-04 : Schmitz : BL
8 9
```
10
+
9 11
## Relevance tier by entity
10 12
11 13
|Entity|Tier|Description |
... ...
@@ -29,20 +31,20 @@ timeline
29 31
|FL |No |No |0 | 0.000 |
30 32
31 33
32
-> [!NOTE]
33
-> First described in BL in 2022 by [Burkhardt B](https://pubmed.ncbi.nlm.nih.gov/35794096)
34 34
35 35
36 36
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/FLYWCH1_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/FLYWCH1_protein_hg38.html)
37 37
38
-![image](images/proteinpaint/FLYWCH1_NM_032296.svg)
38
+![](images/proteinpaint/FLYWCH1_NM_032296.svg)
39 39
40 40
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/FLYWCH1.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/FLYWCH1_hg38.html)
41 41
42
-![image](images/proteinpaint/FLYWCH1.svg)
42
+![](images/proteinpaint/FLYWCH1.svg)
43
+
43 44
## FLYWCH1 Expression
44
-![image](images/gene_expression/FLYWCH1_by_pathology.svg)
45
+![](images/gene_expression/FLYWCH1_by_pathology.svg)
45 46
<!-- ORIGIN: schmitzBurkittLymphomaPathogenesis2012 -->
46 47
<!-- BL: schmitzBurkittLymphomaPathogenesis2012 -->
48
+
47 49
## References
48 50
1. Schmitz R, Young RM, Ceribelli M, Jhavar S, Xiao W, Zhang M, Wright G, Shaffer AL, Hodson DJ, Buras E, Liu X, Powell J, Yang Y, Xu W, Zhao H, Kohlhammer H, Rosenwald A, Kluin P, Müller-Hermelink HK, Ott G, Gascoyne RD, Connors JM, Rimsza LM, Campo E, Jaffe ES, Delabie J, Smeland EB, Ogwang MD, Reynolds SJ, Fisher RI, Braziel RM, Tubbs RR, Cook JR, Weisenburger DD, Chan WC, Pittaluga S, Wilson W, Waldmann TA, Rowe M, Mbulaiteye SM, Rickinson AB, Staudt LM. Burkitt lymphoma pathogenesis and therapeutic targets from structural and functional genomics. Nature. 2012 Oct 4;490(7418):116–120. PMCID: PMC3609867
FNBP1.md
... ...
@@ -32,11 +32,14 @@
32 32
33 33
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/FNBP1_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/FNBP1_protein_hg38.html)
34 34
35
-![image](images/proteinpaint/FNBP1_NM_015033.svg)
35
+![](images/proteinpaint/FNBP1_NM_015033.svg)
36 36
37 37
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/FNBP1.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/FNBP1_hg38.html)
38 38
39
-![image](images/proteinpaint/FNBP1.svg)
39
+![](images/proteinpaint/FNBP1.svg)
40
+
40 41
## FNBP1 Expression
41
-![image](images/gene_expression/FNBP1_by_pathology.svg)
42
+![](images/gene_expression/FNBP1_by_pathology.svg)
42 43
<!-- ORIGIN: Unknown -->
44
+
45
+## References
FNDC1.md
... ...
@@ -1,4 +1,5 @@
1 1
# FNDC1
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -6,6 +7,7 @@ timeline
6 7
title Publication timing
7 8
2013-08-15 : Morin : DLBCL
8 9
```
10
+
9 11
## Relevance tier by entity
10 12
11 13
|Entity|Tier|Description |
... ...
@@ -30,20 +32,20 @@ timeline
30 32
|FL |No |No |0.000 |0.000 |
31 33
32 34
33
-> [!NOTE]
34
-> First described in DLBCL in 2013 by [Morin RD](https://pubmed.ncbi.nlm.nih.gov/23699601)
35 35
36 36
37 37
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/FNDC1_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/FNDC1_protein_hg38.html)
38 38
39
-![image](images/proteinpaint/FNDC1_NM_032532.svg)
39
+![](images/proteinpaint/FNDC1_NM_032532.svg)
40 40
41 41
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/FNDC1.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/FNDC1_hg38.html)
42 42
43
-![image](images/proteinpaint/FNDC1.svg)
43
+![](images/proteinpaint/FNDC1.svg)
44
+
44 45
## FNDC1 Expression
45
-![image](images/gene_expression/FNDC1_by_pathology.svg)
46
+![](images/gene_expression/FNDC1_by_pathology.svg)
46 47
<!-- ORIGIN: morinMutationalStructuralAnalysis2013 -->
47 48
<!-- DLBCL: morinMutationalStructuralAnalysis2013 -->
49
+
48 50
## References
49 51
1. Morin RD, Mungall K, Pleasance E, Mungall AJ, Goya R, Huff RD, Scott DW, Ding J, Roth A, Chiu R, Corbett RD, Chan FC, Mendez-Lago M, Trinh DL, Bolger-Munro M, Taylor G, Hadj Khodabakhshi A, Ben-Neriah S, Pon J, Meissner B, Woolcock B, Farnoud N, Rogic S, Lim EL, Johnson NA, Shah S, Jones S, Steidl C, Holt R, Birol I, Moore R, Connors JM, Gascoyne RD, Marra MA. Mutational and structural analysis of diffuse large B-cell lymphoma using whole-genome sequencing. Blood. 2013 Aug 15;122(7):1256–1265. PMCID: PMC3744992
FOXC1.md
... ...
@@ -1,4 +1,5 @@
1 1
# FOXC1
2
+
2 3
## Overview
3 4
FOXC1 is a transcription factor that regulates genes involved in cell growth, differentiation, and survival. While specific data on FOXC1 mutations in DLBCL are currently limited, the functional role of FOXC1 in transcription regulation and its involvement in other cancers suggest that it could play a significant role in lymphoma pathogenesis. Further research is needed to explore the implications of FOXC1 mutations in DLBCL and other B-cell lymphomas. The rate of FOXC1 varies across studies and was high in only one cohort.<sup>1</sup> Owing to this, the actual prevalence in DLBCL remains unclear and should be studied further. *Without further support, this gene may be migrated to Tier 2.*
4 5
## History
... ...
@@ -8,6 +9,7 @@ timeline
8 9
title Publication timing
9 10
2018-04-12 : Schmitz : DLBCL
10 11
```
12
+
11 13
## Relevance tier by entity
12 14
13 15
|Entity|Tier|Description |
... ...
@@ -35,15 +37,15 @@ timeline
35 37
36 38
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/FOXC1_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/FOXC1_protein_hg38.html)
37 39
38
-![image](images/proteinpaint/FOXC1_NM_001453.svg)
40
+![](images/proteinpaint/FOXC1_NM_001453.svg)
39 41
40 42
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/FOXC1.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/FOXC1_hg38.html)
41 43
42
-![image](images/proteinpaint/FOXC1.svg)
44
+![](images/proteinpaint/FOXC1.svg)
43 45
44 46
45 47
## FOXC1 Expression
46
-![image](images/gene_expression/FOXC1_by_pathology.svg)
48
+![](images/gene_expression/FOXC1_by_pathology.svg)
47 49
48 50
## References
49 51
1. *Schmitz R, Wright GW, Huang DW, Johnson CA, Phelan JD, Wang JQ, Roulland S, Kasbekar M, Young RM, Shaffer AL, Hodson DJ, Xiao W, Yu X, Yang Y, Zhao H, Xu W, Liu X, Zhou B, Du W, Chan WC, Jaffe ES, Gascoyne RD, Connors JM, Campo E, Lopez-Guillermo A, Rosenwald A, Ott G, Delabie J, Rimsza LM, Tay Kuang Wei K, Zelenetz AD, Leonard JP, Bartlett NL, Tran B, Shetty J, Zhao Y, Soppet DR, Pittaluga S, Wilson WH, Staudt LM. Genetics and Pathogenesis of Diffuse Large B-Cell Lymphoma. N Engl J Med. 2018 Apr 12;378(15):1396-1407. doi: 10.1056/NEJMoa1801445. PMID: 29641966; PMCID: PMC6010183.*
FOXO1.md
... ...
@@ -1,4 +1,5 @@
1 1
# FOXO1
2
+
2 3
## Overview
3 4
Mutations in the FOXO1 gene, which encodes a member of the forkhead family of transcription factors, play a significant role in diffuse large B-cell lymphoma (DLBCL). Mutations primarily occur in the first exon, with significant portions affecting the N-terminal region and the Forkhead DNA binding domain.<sup>1</sup> These mutations are common in DLBCL, BL and, to a lesser extent, FL.<sup>2,3</sup> FOXO1 mutations can contribute to resistance to certain therapies, such as anti-CD20-based immunotherapies, by repressing MS4A1 (CD20) expression.<sup>4</sup>
4 5
## History
... ...
@@ -10,6 +11,7 @@ timeline
10 11
2012-10-04 : Schmitz : BL
11 12
2021-07-15 : Duns : PMBL
12 13
```
14
+
13 15
## Relevance tier by entity
14 16
15 17
|Entity|Tier|Description |
... ...
@@ -42,8 +44,6 @@ timeline
42 44
|FL |No |Yes |18.992 |103.028 |
43 45
44 46
45
-> [!NOTE]
46
-> First described in BL in 2012 by [Schmitz R](https://pubmed.ncbi.nlm.nih.gov/22885699). First described in DLBCL in 2011 by [Morin RD](https://pubmed.ncbi.nlm.nih.gov/21796119). First described in FL in 2011 by [Morin RD](https://pubmed.ncbi.nlm.nih.gov/21796119)
47 47
48 48
49 49
## FOXO1 Hotspots
... ...
@@ -74,14 +74,14 @@ timeline
74 74
75 75
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/FOXO1_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/FOXO1_protein_hg38.html)
76 76
77
-![image](images/proteinpaint/FOXO1_NM_002015.svg)
77
+![](images/proteinpaint/FOXO1_NM_002015.svg)
78 78
79 79
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/FOXO1.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/FOXO1_hg38.html)
80 80
81
-![image](images/proteinpaint/FOXO1.svg)
81
+![](images/proteinpaint/FOXO1.svg)
82 82
83 83
## FOXO1 Expression
84
-![image](images/gene_expression/FOXO1_by_pathology.svg)
84
+![](images/gene_expression/FOXO1_by_pathology.svg)
85 85
86 86
## References
87 87
1. *Trinh, D., Scott, D., Morin, R., Méndez-Lago, M., An, J., Jones, S., Mungall, A., Zhao, Y., Schein, J., Steidl, C., Connors, J., Gascoyne, R., & Marra, M. (2013). Analysis of FOXO1 mutations in diffuse large B-cell lymphoma.. Blood, 121 18, 3666-74 . https://doi.org/10.1182/blood-2013-01-479865.*
FOXP1.md
... ...
@@ -1,4 +1,5 @@
1 1
# FOXP1
2
+
2 3
## History
3 4
4 5
```mermaid
... ...
@@ -7,6 +8,7 @@ timeline
7 8
title Publication timing
8 9
2017-10-10 : Reddy : DLBCL
9 10
```
11
+
10 12
## Relevance tier by entity
11 13
12 14
|Entity|Tier|Description |
... ...
@@ -44,14 +46,15 @@ timeline
44 46
45 47
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/FOXP1_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/FOXP1_protein_hg38.html)
46 48
47
-![image](images/proteinpaint/FOXP1_NM_001349338.svg
49
+![](images/proteinpaint/FOXP1_NM_001349338.svg
48 50
images/proteinpaint/FOXP1_NM_032682.svg)
49 51
50 52
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/FOXP1.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/FOXP1_hg38.html)
51 53
52
-![image](images/proteinpaint/FOXP1.svg)
54
+![](images/proteinpaint/FOXP1.svg)
55
+
53 56
## FOXP1 Expression
54
-![image](images/gene_expression/FOXP1_by_pathology.svg)
57
+![](images/gene_expression/FOXP1_by_pathology.svg)
55 58
56 59
## References
57 60
1. Reddy A, Zhang J, Davis NS, Moffitt AB, Love CL, Waldrop A, Leppa S, Pasanen A, Meriranta L, Karjalainen-Lindsberg ML, Nørgaard P, Pedersen M, Gang AO, Høgdall E, Heavican TB, Lone W, Iqbal J, Qin Q, Li G, Kim SY, Healy J, Richards KL, Fedoriw Y, Bernal-Mizrachi L, Koff JL, Staton AD, Flowers CR, Paltiel O, Goldschmidt N, Calaminici M, Clear A, Gribben J, Nguyen E, Czader MB, Ondrejka SL, Collie A, Hsi ED, Tse E, Au-Yeung RKH, Kwong YL, Srivastava G, Choi WWL, Evens AM, Pilichowska M, Sengar M, Reddy N, Li S, Chadburn A, Gordon LI, Jaffe ES, Levy S, Rempel R, Tzeng T, Happ LE, Dave T, Rajagopalan D, Datta J, Dunson DB, Dave SS. Genetic and Functional Drivers of Diffuse Large B Cell Lymphoma. Cell. 2017 Oct;171(2):481-494.e15.
FTCD.md
... ...
@@ -1,4 +1,5 @@
1 1
# FTCD
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -6,6 +7,7 @@ timeline
6 7
title Publication timing
7 8
2012-12-01 : Love : BL
8 9
```
10
+
9 11
## Relevance tier by entity
10 12
11 13
|Entity|Tier|Description |
... ...
@@ -29,20 +31,20 @@ timeline
29 31
|FL |No |No |0.000 |0 |
30 32
31 33
32
-> [!NOTE]
33
-> First described in BL in 2012 by [Love C](https://pubmed.ncbi.nlm.nih.gov/23143597)
34 34
35 35
36 36
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/FTCD_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/FTCD_protein_hg38.html)
37 37
38
-![image](images/proteinpaint/FTCD_NM_206965.svg)
38
+![](images/proteinpaint/FTCD_NM_206965.svg)
39 39
40 40
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/FTCD.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/FTCD_hg38.html)
41 41
42
-![image](images/proteinpaint/FTCD.svg)
42
+![](images/proteinpaint/FTCD.svg)
43
+
43 44
## FTCD Expression
44
-![image](images/gene_expression/FTCD_by_pathology.svg)
45
+![](images/gene_expression/FTCD_by_pathology.svg)
45 46
<!-- ORIGIN: loveGeneticLandscapeMutations2012 -->
46 47
<!-- BL: loveGeneticLandscapeMutations2012 -->
48
+
47 49
## References
48 50
1. Love C, Sun Z, Jima D, Li G, Zhang J, Miles R, Richards KL, Dunphy CH, Choi WWL, Srivastava G, Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers CR, Naresh KN, Evens AM, Chadburn A, Gordon LI, Czader MB, Gill JI, Hsi ED, Greenough A, Moffitt AB, McKinney M, Banerjee A, Grubor V, Levy S, Dunson DB, Dave SS. The genetic landscape of mutations in Burkitt lymphoma. Nat Genet. 2012 Dec;44(12):1321–1325. PMCID: PMC3674561
FUBP1.md
... ...
@@ -1,4 +1,5 @@
1 1
# FUBP1
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -6,6 +7,7 @@ timeline
6 7
title Publication timing
7 8
2017-10-10 : Reddy : DLBCL
8 9
```
10
+
9 11
## Relevance tier by entity
10 12
11 13
|Entity|Tier|Description |
... ...
@@ -30,8 +32,6 @@ timeline
30 32
|FL |No |No |7.430 |26.002 |
31 33
32 34
33
-> [!NOTE]
34
-> First described in DLBCL in 2017 by [Reddy A](https://pubmed.ncbi.nlm.nih.gov/28985567)
35 35
36 36
37 37
## FUBP1 Hotspots
... ...
@@ -42,14 +42,16 @@ timeline
42 42
43 43
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/FUBP1_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/FUBP1_protein_hg38.html)
44 44
45
-![image](images/proteinpaint/FUBP1_NM_003902.svg)
45
+![](images/proteinpaint/FUBP1_NM_003902.svg)
46 46
47 47
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/FUBP1.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/FUBP1_hg38.html)
48 48
49
-![image](images/proteinpaint/FUBP1.svg)
49
+![](images/proteinpaint/FUBP1.svg)
50
+
50 51
## FUBP1 Expression
51
-![image](images/gene_expression/FUBP1_by_pathology.svg)
52
+![](images/gene_expression/FUBP1_by_pathology.svg)
52 53
<!-- ORIGIN: reddyGeneticFunctionalDrivers2017 -->
53 54
<!-- DLBCL: reddyGeneticFunctionalDrivers2017 -->
55
+
54 56
## References
55 57
1. Reddy A, Zhang J, Davis NS, Moffitt AB, Love CL, Waldrop A, Leppa S, Pasanen A, Meriranta L, Karjalainen-Lindsberg ML, Nørgaard P, Pedersen M, Gang AO, Høgdall E, Heavican TB, Lone W, Iqbal J, Qin Q, Li G, Kim SY, Healy J, Richards KL, Fedoriw Y, Bernal-Mizrachi L, Koff JL, Staton AD, Flowers CR, Paltiel O, Goldschmidt N, Calaminici M, Clear A, Gribben J, Nguyen E, Czader MB, Ondrejka SL, Collie A, Hsi ED, Tse E, Au-Yeung RKH, Kwong YL, Srivastava G, Choi WWL, Evens AM, Pilichowska M, Sengar M, Reddy N, Li S, Chadburn A, Gordon LI, Jaffe ES, Levy S, Rempel R, Tzeng T, Happ LE, Dave T, Rajagopalan D, Datta J, Dunson DB, Dave SS. Genetic and Functional Drivers of Diffuse Large B Cell Lymphoma. Cell. 2017 Oct;171(2):481-494.e15.
FUT5.md
... ...
@@ -1,4 +1,5 @@
1 1
# FUT5
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -6,6 +7,7 @@ timeline
6 7
title Publication timing
7 8
2018-05-01 : Chapuy : DLBCL
8 9
```
10
+
9 11
## Relevance tier by entity
10 12
11 13
|Entity|Tier|Description |
... ...
@@ -30,20 +32,20 @@ timeline
30 32
|FL |No |No |0.000 |0 |
31 33
32 34
33
-> [!NOTE]
34
-> First described in DLBCL in 2018 by [Chapuy B](https://pubmed.ncbi.nlm.nih.gov/29713087)
35 35
36 36
37 37
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/FUT5_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/FUT5_protein_hg38.html)
38 38
39
-![image](images/proteinpaint/FUT5_NM_002034.svg)
39
+![](images/proteinpaint/FUT5_NM_002034.svg)
40 40
41 41
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/FUT5.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/FUT5_hg38.html)
42 42
43
-![image](images/proteinpaint/FUT5.svg)
43
+![](images/proteinpaint/FUT5.svg)
44
+
44 45
## FUT5 Expression
45
-![image](images/gene_expression/FUT5_by_pathology.svg)
46
+![](images/gene_expression/FUT5_by_pathology.svg)
46 47
<!-- ORIGIN: chapuyMolecularSubtypesDiffuse2018b -->
47 48
<!-- DLBCL: chapuyMolecularSubtypesDiffuse2018b -->
49
+
48 50
## References
49 51
1. Chapuy B, Stewart C, Dunford AJ, Kim J, Kamburov A, Redd RA, Lawrence MS, Roemer MGM, Li AJ, Ziepert M, Staiger AM, Wala JA, Ducar MD, Leshchiner I, Rheinbay E, Taylor-Weiner A, Coughlin CA, Hess JM, Pedamallu CS, Livitz D, Rosebrock D, Rosenberg M, Tracy AA, Horn H, van Hummelen P, Feldman AL, Link BK, Novak AJ, Cerhan JR, Habermann TM, Siebert R, Rosenwald A, Thorner AR, Meyerson ML, Golub TR, Beroukhim R, Wulf GG, Ott G, Rodig SJ, Monti S, Neuberg DS, Loeffler M, Pfreundschuh M, Trümper L, Getz G, Shipp MA. Molecular subtypes of diffuse large B cell lymphoma are associated with distinct pathogenic mechanisms and outcomes. Nat Med. 2018 May;24(5):679–690. PMCID: PMC6613387
FZD3.md
... ...
@@ -1,4 +1,5 @@
1 1
# FZD3
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -6,6 +7,7 @@ timeline
6 7
title Publication timing
7 8
2019-09-26 : Panea : BL
8 9
```
10
+
9 11
## Relevance tier by entity
10 12
11 13
|Entity|Tier|Description |
... ...
@@ -29,20 +31,20 @@ timeline
29 31
|FL |No |No |1.522 |0 |
30 32
31 33
32
-> [!NOTE]
33
-> First described in BL in 2019 by [Panea RI](https://pubmed.ncbi.nlm.nih.gov/31558468)
34 34
35 35
36 36
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/FZD3_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/FZD3_protein_hg38.html)
37 37
38
-![image](images/proteinpaint/FZD3_NM_017412.svg)
38
+![](images/proteinpaint/FZD3_NM_017412.svg)
39 39
40 40
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/FZD3.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/FZD3_hg38.html)
41 41
42
-![image](images/proteinpaint/FZD3.svg)
42
+![](images/proteinpaint/FZD3.svg)
43
+
43 44
## FZD3 Expression
44
-![image](images/gene_expression/FZD3_by_pathology.svg)
45
+![](images/gene_expression/FZD3_by_pathology.svg)
45 46
<!-- ORIGIN: paneaWholeGenomeLandscape2019 -->
46 47
<!-- BL: paneaWholeGenomeLandscape2019 -->
48
+
47 49
## References
48 50
1. Panea R, Love C, Shingleton JR, Reddy A, Bailey J, Moormann A, Otieno J, Ong’echa J, Oduor C, Schroêder K, Masalu N, Chao N, Agajanian M, Major M, Fedoriw Y, Richards K, Rymkiewicz G, Miles R, Alobeid B, Bhagat G, Flowers C, Ondrejka S, Hsi E, Choi W, Au-Yeung R, Hartmann W, Lenz G, Meyerson H, Lin YY, Zhuang Y, Luftig M, Waldrop A, Dave T, Thakkar D, Sahay H, Li G, Palus B, Seshadri V, Kim S, Gascoyne R, Levy S, Mukhopadhyay M, Dunson D, Dave S. The whole genome landscape of Burkitt lymphoma subtypes. Blood. 2019;
FZR1.md
... ...
@@ -1,4 +1,5 @@
1 1
# FZR1
2
+
2 3
## History
3 4
Mutations in this gene were first described in DLBCL and FL in 2021 by Hübschmann et al.<sup>1</sup>
4 5
... ...
@@ -8,6 +9,7 @@ timeline
8 9
title Publication timing
9 10
2021-05-05 : Hübschmann : FL
10 11
```
12
+
11 13
## Relevance tier by entity
12 14
13 15
|Entity|Tier|Description |
... ...
@@ -30,14 +32,15 @@ timeline
30 32
31 33
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/FZR1_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/FZR1_protein_hg38.html)
32 34
33
-![image](images/proteinpaint/FZR1_NM_001136198.svg)
35
+![](images/proteinpaint/FZR1_NM_001136198.svg)
34 36
35 37
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/FZR1.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/FZR1_hg38.html)
36 38
37
-![image](images/proteinpaint/FZR1.svg)
39
+![](images/proteinpaint/FZR1.svg)
38 40
39 41
## FZR1 Expression
40
-![image](images/gene_expression/FZR1_by_pathology.svg)
42
+![](images/gene_expression/FZR1_by_pathology.svg)
43
+
41 44
## References
42 45
1. Hübschmann D, Kleinheinz K, Wagener R, Bernhart SH, López C, Toprak UH, Sungalee S, Ishaque N, Kretzmer H, Kreuz M, Waszak SM, Paramasivam N, Ammerpohl O, Aukema SM, Beekman R, Bergmann AK, Bieg M, Binder H, Borkhardt A, Borst C, Brors B, Bruns P, Carrillo de Santa Pau E, Claviez A, Doose G, Haake A, Karsch D, Haas S, Hansmann ML, Hoell JI, Hovestadt V, Huang B, Hummel M, Jäger-Schmidt C, Kerssemakers JNA, Korbel JO, Kube D, Lawerenz C, Lenze D, Martens JHA, Ott G, Radlwimmer B, Reisinger E, Richter J, Rico D, Rosenstiel P, Rosenwald A, Schillhabel M, Stilgenbauer S, Stadler PF, Martín-Subero JI, Szczepanowski M, Warsow G, Weniger MA, Zapatka M, Valencia A, Stunnenberg HG, Lichter P, Möller P, Loeffler M, Eils R, Klapper W, Hoffmann S, Trümper L, ICGC MMML-Seq consortium, ICGC DE-Mining consortium, BLUEPRINT consortium, Küppers R, Schlesner M, Siebert R. Mutational mechanisms shaping the coding and noncoding genome of germinal center derived B-cell lymphomas. Leukemia. 2021 Jul;35(7):2002–2016. PMCID: PMC8257491
43 46
GABRA2.md
... ...
@@ -1,4 +1,5 @@
1 1
# GABRA2
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -6,6 +7,7 @@ timeline
6 7
title Publication timing
7 8
2018-05-01 : Chapuy : DLBCL
8 9
```
10
+
9 11
## Relevance tier by entity
10 12
11 13
|Entity|Tier|Description |
... ...
@@ -30,20 +32,20 @@ timeline
30 32
|FL |No |No |1.493 |0.000 |
31 33
32 34
33
-> [!NOTE]
34
-> First described in DLBCL in 2018 by [Chapuy B](https://pubmed.ncbi.nlm.nih.gov/29713087)
35 35
36 36
37 37
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/GABRA2_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/GABRA2_protein_hg38.html)
38 38
39
-![image](images/proteinpaint/GABRA2_NM_000807.svg)
39
+![](images/proteinpaint/GABRA2_NM_000807.svg)
40 40
41 41
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/GABRA2.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/GABRA2_hg38.html)
42 42
43
-![image](images/proteinpaint/GABRA2.svg)
43
+![](images/proteinpaint/GABRA2.svg)
44
+
44 45
## GABRA2 Expression
45
-![image](images/gene_expression/GABRA2_by_pathology.svg)
46
+![](images/gene_expression/GABRA2_by_pathology.svg)
46 47
<!-- ORIGIN: chapuyMolecularSubtypesDiffuse2018b -->
47 48
<!-- DLBCL: chapuyMolecularSubtypesDiffuse2018b -->
49
+
48 50
## References
49 51
1. Chapuy B, Stewart C, Dunford AJ, Kim J, Kamburov A, Redd RA, Lawrence MS, Roemer MGM, Li AJ, Ziepert M, Staiger AM, Wala JA, Ducar MD, Leshchiner I, Rheinbay E, Taylor-Weiner A, Coughlin CA, Hess JM, Pedamallu CS, Livitz D, Rosebrock D, Rosenberg M, Tracy AA, Horn H, van Hummelen P, Feldman AL, Link BK, Novak AJ, Cerhan JR, Habermann TM, Siebert R, Rosenwald A, Thorner AR, Meyerson ML, Golub TR, Beroukhim R, Wulf GG, Ott G, Rodig SJ, Monti S, Neuberg DS, Loeffler M, Pfreundschuh M, Trümper L, Getz G, Shipp MA. Molecular subtypes of diffuse large B cell lymphoma are associated with distinct pathogenic mechanisms and outcomes. Nat Med. 2018 May;24(5):679–690. PMCID: PMC6613387
GAK.md
... ...
@@ -9,6 +9,7 @@ timeline
9 9
title Publication timing
10 10
2021-05-05 : H : DLBCL
11 11
```
12
+
12 13
## Relevance tier by entity
13 14
14 15
|Entity|Tier|Description |
... ...
@@ -34,13 +35,14 @@ timeline
34 35
35 36
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/GAK_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/GAK_protein_hg38.html)
36 37
37
-![image](images/proteinpaint/GAK_NM_005255.svg)
38
+![](images/proteinpaint/GAK_NM_005255.svg)
38 39
39 40
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/GAK.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/GAK_hg38.html)
40 41
41
-![image](images/proteinpaint/GAK.svg)
42
+![](images/proteinpaint/GAK.svg)
43
+
42 44
## GAK Expression
43
-![image](images/gene_expression/GAK_by_pathology.svg)
45
+![](images/gene_expression/GAK_by_pathology.svg)
44 46
45 47
## References
46 48
1. Hübschmann D, Kleinheinz K, Wagener R, Bernhart SH, López C, Toprak UH, Sungalee S, Ishaque N, Kretzmer H, Kreuz M, Waszak SM, Paramasivam N, Ammerpohl O, Aukema SM, Beekman R, Bergmann AK, Bieg M, Binder H, Borkhardt A, Borst C, Brors B, Bruns P, Carrillo de Santa Pau E, Claviez A, Doose G, Haake A, Karsch D, Haas S, Hansmann ML, Hoell JI, Hovestadt V, Huang B, Hummel M, Jäger-Schmidt C, Kerssemakers JNA, Korbel JO, Kube D, Lawerenz C, Lenze D, Martens JHA, Ott G, Radlwimmer B, Reisinger E, Richter J, Rico D, Rosenstiel P, Rosenwald A, Schillhabel M, Stilgenbauer S, Stadler PF, Martín-Subero JI, Szczepanowski M, Warsow G, Weniger MA, Zapatka M, Valencia A, Stunnenberg HG, Lichter P, Möller P, Loeffler M, Eils R, Klapper W, Hoffmann S, Trümper L, ICGC MMML-Seq consortium, ICGC DE-Mining consortium, BLUEPRINT consortium, Küppers R, Schlesner M, Siebert R. Mutational mechanisms shaping the coding and noncoding genome of germinal center derived B-cell lymphomas. Leukemia. 2021 Jul;35(7):2002–2016. PMCID: PMC8257491
GBP7.md
... ...
@@ -1,4 +1,5 @@
1 1
# GBP7
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -6,6 +7,7 @@ timeline
6 7
title Publication timing
7 8
2023-07-26 : Russler-Germain : FL
8 9
```
10
+
9 11
## Relevance tier by entity
10 12
11 13
|Entity|Tier|Description |
... ...
@@ -27,20 +29,20 @@ timeline
27 29
|FL |No |No |0.000 |0 |
28 30
29 31
30
-> [!NOTE]
31
-> First described in FL in 2023 by [Kalmbach S](https://pubmed.ncbi.nlm.nih.gov/37563306)
32 32
33 33
34 34
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/GBP7_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/GBP7_protein_hg38.html)
35 35
36
-![image](images/proteinpaint/GBP7_NM_207398.svg)
36
+![](images/proteinpaint/GBP7_NM_207398.svg)
37 37
38 38
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/GBP7.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/GBP7_hg38.html)
39 39
40
-![image](images/proteinpaint/GBP7.svg)
40
+![](images/proteinpaint/GBP7.svg)
41
+
41 42
## GBP7 Expression
42
-![image](images/gene_expression/GBP7_by_pathology.svg)
43
+![](images/gene_expression/GBP7_by_pathology.svg)
43 44
<!-- ORIGIN: russler-germainMutationsAssociatedProgression2023a -->
44 45
<!-- FL: russler-germainMutationsAssociatedProgression2023b -->
46
+
45 47
## References
46 48
1. Russler-Germain DA, Krysiak K, Ramirez CA, Mosior M, Watkins MP, Gomez F, Skidmore ZL, Trani L, Gao F, Geyer S, Cashen A, Mehta-Shah N, Kahl B, Bartlett N, Alderuccio J, Lossos I, Ondrejka S, Hsi E, Martin P, Leonard J, Griffith M, Griffith O, Fehniger T. Mutations associated with progression in follicular lymphoma predict inferior outcomes at diagnosis: Alliance A151303. Blood Advances. 2023;7:5524–5539.
GGTLA4.md
... ...
@@ -1,4 +1,5 @@
1 1
# GGTLA4
2
+
2 3
## History
3 4
4 5
```mermaid
... ...
@@ -7,6 +8,7 @@ timeline
7 8
title Publication timing
8 9
2012-12-01 : Love : BL
9 10
```
11
+
10 12
## Relevance tier by entity
11 13
12 14
|Entity|Tier|Description |
... ...
@@ -26,18 +28,18 @@ timeline
26 28
|
27 29
28 30
29
-> [!NOTE]
30
-> First described in BL in 2012 by [Love C](https://pubmed.ncbi.nlm.nih.gov/23143597)
31 31
32 32
33 33
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/GGTLA4_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/GGTLA4_protein_hg38.html)
34 34
35 35
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/GGTLA4.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/GGTLA4_hg38.html)
36 36
37
-![image](images/proteinpaint/GGTLA4.svg)
37
+![](images/proteinpaint/GGTLA4.svg)
38
+
38 39
## GGTLA4 Expression
39
-![image](images/gene_expression/GGTLA4_by_pathology.svg)
40
+![](images/gene_expression/GGTLA4_by_pathology.svg)
40 41
<!-- ORIGIN: loveGeneticLandscapeMutations2012 -->
41 42
<!-- BL: loveGeneticLandscapeMutations2012 -->
43
+
42 44
## References
43 45
1. Love C, Sun Z, Jima D, Li G, Zhang J, Miles R, Richards KL, Dunphy CH, Choi WWL, Srivastava G, Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers CR, Naresh KN, Evens AM, Chadburn A, Gordon LI, Czader MB, Gill JI, Hsi ED, Greenough A, Moffitt AB, McKinney M, Banerjee A, Grubor V, Levy S, Dunson DB, Dave SS. The genetic landscape of mutations in Burkitt lymphoma. Nat Genet. 2012 Dec;44(12):1321–1325. PMCID: PMC3674561
GNA13.md
... ...
@@ -1,4 +1,5 @@
1 1
# GNA13
2
+
2 3
## Overview
3 4
Mutations in GNA13, which encodes a G protein alpha subunit involved in multiple signaling pathways, have been identified as significant contributors to the pathogenesis of germinal centre-derived B-cell lymphomas, including diffuse large B-cell lymphoma (DLBCL) and Burkitt lymphoma (BL).<sup>1</sup> This gene has some recurrent sites of mutations (hot spots). Overall, mutations are often loss-of-function in nature, disrupting the normal activity of GNA13. GNA13 regulates B-cell homing and growth suppression within the germinal center niche and its loss of function promotes lymphoma development.<sup>2</sup>
4 5
## History
... ...
@@ -11,6 +12,7 @@ timeline
11 12
2012-12-01 : Love : BL
12 13
2015-02-12 : Reichel : PMBL
13 14
```
15
+
14 16
## Relevance tier by entity
15 17
16 18
|Entity|Tier|Description |
... ...
@@ -55,15 +57,15 @@ timeline
55 57
56 58
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/GNA13_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/GNA13_protein_hg38.html)
57 59
58
-![image](images/proteinpaint/GNA13_NM_006572.svg)
60
+![](images/proteinpaint/GNA13_NM_006572.svg)
59 61
60 62
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/GNA13.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/GNA13_hg38.html)
61 63
62
-![image](images/proteinpaint/GNA13.svg)
64
+![](images/proteinpaint/GNA13.svg)
63 65
64 66
65 67
## GNA13 Expression
66
-![image](images/gene_expression/GNA13_by_pathology.svg)
68
+![](images/gene_expression/GNA13_by_pathology.svg)
67 69
68 70
69 71
<!-- ORIGIN: morinFrequentMutationHistonemodifying2011 -->
... ...
@@ -71,6 +73,7 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/G
71 73
<!-- FL: morinFrequentMutationHistonemodifying2011 -->
72 74
<!-- BL: loveGeneticLandscapeMutations2012 -->
73 75
<!-- DLBCL: morinFrequentMutationHistonemodifying2011 -->
76
+
74 77
## References
75 78
1. *Morin RD, Mendez-Lago M, Mungall AJ, Goya R, Mungall KL, Corbett RD, Johnson NA, Severson TM, Chiu R, Field M, Jackman S, Krzywinski M, Scott DW, Trinh DL, Tamura-Wells J, Li S, Firme MR, Rogic S, Griffith M, Chan S, Yakovenko O, Meyer IM, Zhao EY, Smailus D, Moksa M, Chittaranjan S, Rimsza L, Brooks-Wilson A, Spinelli JJ, Ben-Neriah S, Meissner B, Woolcock B, Boyle M, McDonald H, Tam A, Zhao Y, Delaney A, Zeng T, Tse K, Butterfield Y, Birol I, Holt R, Schein J, Horsman DE, Moore R, Jones SJM, Connors JM, Hirst M, Gascoyne RD, Marra MA. Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma. Nature. 2011 Jul 27;476(7360):298–303. PMCID: PMC3210554*
76 79
2. *Muppidi JR, Schmitz R, Green JA, Xiao W, Larsen AB, Braun SE, An J, Xu Y, Rosenwald A, Ott G, Gascoyne RD, Rimsza LM, Campo E, Jaffe ES, Delabie J, Smeland EB, Braziel RM, Tubbs RR, Cook JR, Weisenburger DD, Chan WC, Vaidehi N, Staudt LM, Cyster JG. Loss of signalling via Gα13 in germinal centre B-cell-derived lymphoma. Nature. 2014 Dec 11;516(7530):254-8. doi: 10.1038/nature13765. Epub 2014 Sep 28. PMID: 25274307; PMCID: PMC4267955.*
GNAI2.md
... ...
@@ -1,4 +1,5 @@
1 1
# GNAI2
2
+
2 3
## Overview
3 4
Mutations in the GNAI2 gene, which encodes the G protein alpha subunit involved in signal transduction, have been identified as significant contributors to the pathogenesis of B-cell lymphomas, including BL, DLBCL and, to a lesser extent, FL.<sup>1</sup> Mutations in GNAI2, along with GNA13 and other small GTPases, affect the signaling pathways that regulate B-cell homing. These mutations are thought to cause aberrant localization and function of B-cells within lymphoid tissues.<sup>1</sup> The functional role of these mutations has not been studied as extensively as those in GNA13 and further work is needed to elucidate the specific role of these mutations in lymphomagenesis.
4 5
... ...
@@ -12,6 +13,7 @@ timeline
12 13
2013-08-15 : Morin : DLBCL
13 14
2019-03-21 : Grande : BL
14 15
```
16
+
15 17
## Relevance tier by entity
16 18
17 19
|Entity|Tier|Description |
... ...
@@ -60,14 +62,14 @@ timeline
60 62
61 63
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/GNAI2_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/GNAI2_protein_hg38.html)
62 64
63
-![image](images/proteinpaint/GNAI2_NM_002070.svg)
65
+![](images/proteinpaint/GNAI2_NM_002070.svg)
64 66
65 67
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/GNAI2.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/GNAI2_hg38.html)
66 68
67
-![image](images/proteinpaint/GNAI2.svg)
69
+![](images/proteinpaint/GNAI2.svg)
68 70
69 71
## GNAI2 Expression
70
-![image](images/gene_expression/GNAI2_by_pathology.svg)
72
+![](images/gene_expression/GNAI2_by_pathology.svg)
71 73
72 74
## References
73 75
1. *Morin RD, Mungall K, Pleasance E, Mungall AJ, Goya R, Huff RD, Scott DW, Ding J, Roth A, Chiu R, Corbett RD, Chan FC, Mendez-Lago M, Trinh DL, Bolger-Munro M, Taylor G, Hadj Khodabakhshi A, Ben-Neriah S, Pon J, Meissner B, Woolcock B, Farnoud N, Rogic S, Lim EL, Johnson NA, Shah S, Jones S, Steidl C, Holt R, Birol I, Moore R, Connors JM, Gascoyne RD, Marra MA. Mutational and structural analysis of diffuse large B-cell lymphoma using whole-genome sequencing. Blood. 2013 Aug 15;122(7):1256–1265. PMCID: PMC3744992*
GNAS.md
... ...
@@ -1,4 +1,5 @@
1 1
# GNAS
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -6,6 +7,7 @@ timeline
6 7
title Publication timing
7 8
2017-10-10 : Reddy : DLBCL
8 9
```
10
+
9 11
## Relevance tier by entity
10 12
11 13
|Entity|Tier|Description |
... ...
@@ -30,20 +32,20 @@ timeline
30 32
|FL |No |No |1.581 | 0.0 |
31 33
32 34
33
-> [!NOTE]
34
-> First described in DLBCL in 2017 by [Reddy A](https://pubmed.ncbi.nlm.nih.gov/28985567)
35 35
36 36
37 37
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/GNAS_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/GNAS_protein_hg38.html)
38 38
39
-![image](images/proteinpaint/GNAS_NM_000516.svg)
39
+![](images/proteinpaint/GNAS_NM_000516.svg)
40 40
41 41
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/GNAS.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/GNAS_hg38.html)
42 42
43
-![image](images/proteinpaint/GNAS.svg)
43
+![](images/proteinpaint/GNAS.svg)
44
+
44 45
## GNAS Expression
45
-![image](images/gene_expression/GNAS_by_pathology.svg)
46
+![](images/gene_expression/GNAS_by_pathology.svg)
46 47
<!-- ORIGIN: reddyGeneticFunctionalDrivers2017 -->
47 48
<!-- DLBCL: reddyGeneticFunctionalDrivers2017 -->
49
+
48 50
## References
49 51
1. Reddy A, Zhang J, Davis NS, Moffitt AB, Love CL, Waldrop A, Leppa S, Pasanen A, Meriranta L, Karjalainen-Lindsberg ML, Nørgaard P, Pedersen M, Gang AO, Høgdall E, Heavican TB, Lone W, Iqbal J, Qin Q, Li G, Kim SY, Healy J, Richards KL, Fedoriw Y, Bernal-Mizrachi L, Koff JL, Staton AD, Flowers CR, Paltiel O, Goldschmidt N, Calaminici M, Clear A, Gribben J, Nguyen E, Czader MB, Ondrejka SL, Collie A, Hsi ED, Tse E, Au-Yeung RKH, Kwong YL, Srivastava G, Choi WWL, Evens AM, Pilichowska M, Sengar M, Reddy N, Li S, Chadburn A, Gordon LI, Jaffe ES, Levy S, Rempel R, Tzeng T, Happ LE, Dave T, Rajagopalan D, Datta J, Dunson DB, Dave SS. Genetic and Functional Drivers of Diffuse Large B Cell Lymphoma. Cell. 2017 Oct;171(2):481-494.e15.
GOLGA5.md
... ...
@@ -1,4 +1,5 @@
1 1
# GOLGA5
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -6,6 +7,7 @@ timeline
6 7
title Publication timing
7 8
2017-10-10 : Reddy : DLBCL
8 9
```
10
+
9 11
## Relevance tier by entity
10 12
11 13
|Entity|Tier|Description |
... ...
@@ -30,20 +32,20 @@ timeline
30 32
|FL |No |No |3.693 |0 |
31 33
32 34
33
-> [!NOTE]
34
-> First described in DLBCL in 2017 by [Reddy A](https://pubmed.ncbi.nlm.nih.gov/28985567)
35 35
36 36
37 37
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/GOLGA5_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/GOLGA5_protein_hg38.html)
38 38
39
-![image](images/proteinpaint/GOLGA5_NM_005113.svg)
39
+![](images/proteinpaint/GOLGA5_NM_005113.svg)
40 40
41 41
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/GOLGA5.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/GOLGA5_hg38.html)
42 42
43
-![image](images/proteinpaint/GOLGA5.svg)
43
+![](images/proteinpaint/GOLGA5.svg)
44
+
44 45
## GOLGA5 Expression
45
-![image](images/gene_expression/GOLGA5_by_pathology.svg)
46
+![](images/gene_expression/GOLGA5_by_pathology.svg)
46 47
<!-- ORIGIN: reddyGeneticFunctionalDrivers2017 -->
47 48
<!-- DLBCL: reddyGeneticFunctionalDrivers2017 -->
49
+
48 50
## References
49 51
1. Reddy A, Zhang J, Davis NS, Moffitt AB, Love CL, Waldrop A, Leppa S, Pasanen A, Meriranta L, Karjalainen-Lindsberg ML, Nørgaard P, Pedersen M, Gang AO, Høgdall E, Heavican TB, Lone W, Iqbal J, Qin Q, Li G, Kim SY, Healy J, Richards KL, Fedoriw Y, Bernal-Mizrachi L, Koff JL, Staton AD, Flowers CR, Paltiel O, Goldschmidt N, Calaminici M, Clear A, Gribben J, Nguyen E, Czader MB, Ondrejka SL, Collie A, Hsi ED, Tse E, Au-Yeung RKH, Kwong YL, Srivastava G, Choi WWL, Evens AM, Pilichowska M, Sengar M, Reddy N, Li S, Chadburn A, Gordon LI, Jaffe ES, Levy S, Rempel R, Tzeng T, Happ LE, Dave T, Rajagopalan D, Datta J, Dunson DB, Dave SS. Genetic and Functional Drivers of Diffuse Large B Cell Lymphoma. Cell. 2017 Oct;171(2):481-494.e15.
GPC5.md
... ...
@@ -1,4 +1,5 @@
1 1
# GPC5
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -6,6 +7,7 @@ timeline
6 7
title Publication timing
7 8
2018-04-12 : Schmitz : DLBCL
8 9
```
10
+
9 11
## Relevance tier by entity
10 12
11 13
|Entity|Tier|Description |
... ...
@@ -30,20 +32,20 @@ timeline
30 32
|FL |No |No |1.144 |0 |
31 33
32 34
33
-> [!NOTE]
34
-> First described in DLBCL in 2018 by [Schmitz R](https://pubmed.ncbi.nlm.nih.gov/29641966)
35 35
36 36
37 37
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/GPC5_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/GPC5_protein_hg38.html)
38 38
39
-![image](images/proteinpaint/GPC5_NM_004466.svg)
39
+![](images/proteinpaint/GPC5_NM_004466.svg)
40 40
41 41
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/GPC5.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/GPC5_hg38.html)
42 42
43
-![image](images/proteinpaint/GPC5.svg)
43
+![](images/proteinpaint/GPC5.svg)
44
+
44 45
## GPC5 Expression
45
-![image](images/gene_expression/GPC5_by_pathology.svg)
46
+![](images/gene_expression/GPC5_by_pathology.svg)
46 47
<!-- ORIGIN: schmitzGeneticsPathogenesisDiffuse2018a -->
47 48
<!-- DLBCL: schmitzGeneticsPathogenesisDiffuse2018a -->
49
+
48 50
## References
49 51
1. Schmitz R, Wright GW, Huang DW, Johnson CA, Phelan JD, Wang JQ, Roulland S, Kasbekar M, Young RM, Shaffer AL, Hodson DJ, Xiao W, Yu X, Yang Y, Zhao H, Xu W, Liu X, Zhou B, Du W, Chan WC, Jaffe ES, Gascoyne RD, Connors JM, Campo E, Lopez-Guillermo A, Rosenwald A, Ott G, Delabie J, Rimsza LM, Tay Kuang Wei K, Zelenetz AD, Leonard JP, Bartlett NL, Tran B, Shetty J, Zhao Y, Soppet DR, Pittaluga S, Wilson WH, Staudt LM. Genetics and Pathogenesis of Diffuse Large B-Cell Lymphoma. N Engl J Med. 2018 Apr 12;378(15):1396–1407. PMCID: PMC6010183
GRB2.md
... ...
@@ -1,4 +1,5 @@
1 1
# GRB2
2
+
2 3
## Overview
3 4
GRB2 (Growth factor receptor-bound protein 2) is an adaptor protein that links receptor tyrosine kinases to the Ras signaling pathway through its SH2 and SH3 domains. The mutation pattern in DLBCL implies the preferential accumulation of *inactivating mutations*. While direct evidence of GRB2 mutations in DLBCL is limited, its established role in other cancers and signal transduction pathways suggests that it may contribute to lymphomagenesis. Further research is needed to elucidate its specific role in DLBCL.
4 5
## History
... ...
@@ -9,6 +10,7 @@ timeline
9 10
2011-07-31 : Pasqualucci : DLBCL
10 11
2019-09-26 : Panea : BL
11 12
```
13
+
12 14
## Relevance tier by entity
13 15
14 16
|Entity|Tier|Description |
... ...
@@ -37,22 +39,22 @@ timeline
37 39
|BL |No |No | 7.253 | 0.000 |
38 40
39 41
40
-> [!NOTE]
41
-> First described in BL in 2019 by [Panea RI](https://pubmed.ncbi.nlm.nih.gov/31558468). First described in DLBCL in 2011 by [Pasqualucci L](https://pubmed.ncbi.nlm.nih.gov/21804550)
42 42
43 43
44 44
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/GRB2_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/GRB2_protein_hg38.html)
45 45
46
-![image](images/proteinpaint/GRB2_NM_002086.svg)
46
+![](images/proteinpaint/GRB2_NM_002086.svg)
47 47
48 48
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/GRB2.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/GRB2_hg38.html)
49 49
50
-![image](images/proteinpaint/GRB2.svg)
50
+![](images/proteinpaint/GRB2.svg)
51
+
51 52
## GRB2 Expression
52
-![image](images/gene_expression/GRB2_by_pathology.svg)
53
+![](images/gene_expression/GRB2_by_pathology.svg)
53 54
<!-- ORIGIN: pasqualucciAnalysisCodingGenome2011 -->
54 55
<!-- DLBCL: pasqualucciAnalysisCodingGenome2011 -->
55 56
<!-- BL: paneaWholeGenomeLandscape2019 -->
57
+
56 58
## References
57 59
1. Pasqualucci L, Trifonov V, Fabbri G, Ma J, Rossi D, Chiarenza A, Wells VA, Grunn A, Messina M, Elliot O, Chan J, Bhagat G, Chadburn A, Gaidano G, Mullighan CG, Rabadan R, Dalla-Favera R. Analysis of the coding genome of diffuse large B-cell lymphoma. Nat Genet. 2011 Jul 31;43(9):830–837. PMCID: PMC3297422
58 60
2. Panea R, Love C, Shingleton JR, Reddy A, Bailey J, Moormann A, Otieno J, Ong’echa J, Oduor C, Schroêder K, Masalu N, Chao N, Agajanian M, Major M, Fedoriw Y, Richards K, Rymkiewicz G, Miles R, Alobeid B, Bhagat G, Flowers C, Ondrejka S, Hsi E, Choi W, Au-Yeung R, Hartmann W, Lenz G, Meyerson H, Lin YY, Zhuang Y, Luftig M, Waldrop A, Dave T, Thakkar D, Sahay H, Li G, Palus B, Seshadri V, Kim S, Gascoyne R, Levy S, Mukhopadhyay M, Dunson D, Dave S. The whole genome landscape of Burkitt lymphoma subtypes. Blood. 2019;
GRHPR.md
... ...
@@ -1,4 +1,5 @@
1 1
# GRHPR
2
+
2 3
## Overview
3 4
GRHPR is one of [a number of genes](https://github.com/morinlab/LLMPP/wiki/ashm) affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus. The mutation pattern in DLBCL implies the preferential accumulation of *inactivating mutations*. Coding and non-coding mutations in GRHPR are a feature of the MCD genetic subgroup of DLBCL.<sup>1</sup> Further research is needed to elucidate the specific role of GRHPR mutations in DLBCL.
4 5
... ...
@@ -9,6 +10,7 @@ timeline
9 10
title Publication timing
10 11
2018-10-01 : Arthur : DLBCL
11 12
```
13
+
12 14
## Relevance tier by entity
13 15
14 16
|Entity|Tier|Description |
... ...
@@ -38,21 +40,19 @@ timeline
38 40
|:--------:|:----------:|:--------:|:-----------------------------------------------------------------------------------------:|:------------------:|
39 41
|chr9 |37423010 |37425279|[TSS](https://genome.ucsc.edu/s/rdmorin/GAMBL%20hg19?position=chr9%3A37423010%2D37425279)|active_promoter |
40 42
41
-> [!NOTE]
42
-> First described in DLBCL in 2018 by [Arthur SE](https://pubmed.ncbi.nlm.nih.gov/30275490)
43 43
44 44
45 45
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/GRHPR_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/GRHPR_protein_hg38.html)
46 46
47
-![image](images/proteinpaint/GRHPR_NM_012203.svg)
47
+![](images/proteinpaint/GRHPR_NM_012203.svg)
48 48
49 49
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/GRHPR.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/GRHPR_hg38.html)
50 50
51
-![image](images/proteinpaint/GRHPR.svg)
51
+![](images/proteinpaint/GRHPR.svg)
52 52
53 53
## References
54 54
1. *Wright GW, Huang DW, Phelan JD, Coulibaly ZA, Roulland S, Young RM, Wang JQ, Schmitz R, Morin RD, Tang J, Jiang A, Bagaev A, Plotnikova O, Kotlov N, Johnson CA, Wilson WH, Scott DW, Staudt LM. A Probabilistic Classification Tool for Genetic Subtypes of Diffuse Large B Cell Lymphoma with Therapeutic Implications. Cancer Cell. 2020 Apr 13;37(4):551-568.e14. doi: 10.1016/j.ccell.2020.03.015. PMID: 32289277; PMCID: PMC8459709.*
55 55
## GRHPR Expression
56
-![image](images/gene_expression/GRHPR_by_pathology.svg)
56
+![](images/gene_expression/GRHPR_by_pathology.svg)
57 57
<!-- ORIGIN: arthurGenomewideDiscoverySomatic2018 -->
58 58
<!-- DLBCL: arthurGenomewideDiscoverySomatic2018 -->
GRIK5.md
... ...
@@ -1,4 +1,5 @@
1 1
# GRIK5
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -6,6 +7,7 @@ timeline
6 7
title Publication timing
7 8
2012-12-01 : Love : BL
8 9
```
10
+
9 11
## Relevance tier by entity
10 12
11 13
|Entity|Tier|Description |
... ...
@@ -29,20 +31,20 @@ timeline
29 31
|FL |No |No |1.801 |0 |
30 32
31 33
32
-> [!NOTE]
33
-> First described in BL in 2012 by [Love C](https://pubmed.ncbi.nlm.nih.gov/23143597)
34 34
35 35
36 36
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/GRIK5_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/GRIK5_protein_hg38.html)
37 37
38
-![image](images/proteinpaint/GRIK5_NM_002088.svg)
38
+![](images/proteinpaint/GRIK5_NM_002088.svg)
39 39
40 40
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/GRIK5.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/GRIK5_hg38.html)
41 41
42
-![image](images/proteinpaint/GRIK5.svg)
42
+![](images/proteinpaint/GRIK5.svg)
43
+
43 44
## GRIK5 Expression
44
-![image](images/gene_expression/GRIK5_by_pathology.svg)
45
+![](images/gene_expression/GRIK5_by_pathology.svg)
45 46
<!-- ORIGIN: loveGeneticLandscapeMutations2012 -->
46 47
<!-- BL: loveGeneticLandscapeMutations2012 -->
48
+
47 49
## References
48 50
1. Love C, Sun Z, Jima D, Li G, Zhang J, Miles R, Richards KL, Dunphy CH, Choi WWL, Srivastava G, Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers CR, Naresh KN, Evens AM, Chadburn A, Gordon LI, Czader MB, Gill JI, Hsi ED, Greenough A, Moffitt AB, McKinney M, Banerjee A, Grubor V, Levy S, Dunson DB, Dave SS. The genetic landscape of mutations in Burkitt lymphoma. Nat Genet. 2012 Dec;44(12):1321–1325. PMCID: PMC3674561
GRIN2A.md
... ...
@@ -1,4 +1,5 @@
1 1
# GRIN2A
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -6,6 +7,7 @@ timeline
6 7
title Publication timing
7 8
2014-05-08 : Zhang : MCL
8 9
```
10
+
9 11
## Relevance tier by entity
10 12
11 13
|Entity|Tier|Description |
... ...
@@ -27,20 +29,20 @@ timeline
27 29
|FL |No |No |0.618 |0.000 |
28 30
29 31
30
-> [!NOTE]
31
-> First described in MCL in 2014 by [Zhang J](https://pubmed.ncbi.nlm.nih.gov/24682267)
32 32
33 33
34 34
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/GRIN2A_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/GRIN2A_protein_hg38.html)
35 35
36
-![image](images/proteinpaint/GRIN2A_NM_001134407.svg)
36
+![](images/proteinpaint/GRIN2A_NM_001134407.svg)
37 37
38 38
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/GRIN2A.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/GRIN2A_hg38.html)
39 39
40
-![image](images/proteinpaint/GRIN2A.svg)
40
+![](images/proteinpaint/GRIN2A.svg)
41
+
41 42
## GRIN2A Expression
42
-![image](images/gene_expression/GRIN2A_by_pathology.svg)
43
+![](images/gene_expression/GRIN2A_by_pathology.svg)
43 44
<!-- ORIGIN: zhangGenomicLandscapeMantle2014 -->
44 45
<!-- MCL: zhangGenomicLandscapeMantle2014 -->
46
+
45 47
## References
46 48
1. Zhang J, Jima D, Moffitt AB, Liu Q, Czader M, Hsi ED, Fedoriw Y, Dunphy CH, Richards KL, Gill JI, Sun Z, Love C, Scotland P, Lock E, Levy S, Hsu DS, Dunson D, Dave SS. The genomic landscape of mantle cell lymphoma is related to the epigenetically determined chromatin state of normal B cells. Blood. 2014 May 8;123(19):2988–2996.
GRM6.md
... ...
@@ -1,4 +1,5 @@
1 1
# GRM6
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -6,6 +7,7 @@ timeline
6 7
title Publication timing
7 8
2023-07-26 : Russler : FL
8 9
```
10
+
9 11
## Relevance tier by entity
10 12
11 13
|Entity|Tier|Description |
... ...
@@ -27,20 +29,20 @@ timeline
27 29
|FL |No |No |0.00 |0 |
28 30
29 31
30
-> [!NOTE]
31
-> First described in FL in 2023 by [Russler-Germain DA](https://pubmed.ncbi.nlm.nih.gov/37493986)
32 32
33 33
34 34
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/GRM6_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/GRM6_protein_hg38.html)
35 35
36
-![image](images/proteinpaint/GRM6_NM_000843.svg)
36
+![](images/proteinpaint/GRM6_NM_000843.svg)
37 37
38 38
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/GRM6.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/GRM6_hg38.html)
39 39
40
-![image](images/proteinpaint/GRM6.svg)
40
+![](images/proteinpaint/GRM6.svg)
41
+
41 42
## GRM6 Expression
42
-![image](images/gene_expression/GRM6_by_pathology.svg)
43
+![](images/gene_expression/GRM6_by_pathology.svg)
43 44
<!-- ORIGIN: russler-germainMutationsAssociatedProgression2023a -->
44 45
<!-- FL: russler-germainMutationsAssociatedProgression2023b -->
46
+
45 47
## References
46 48
1. Russler-Germain DA, Krysiak K, Ramirez CA, Mosior M, Watkins MP, Gomez F, Skidmore ZL, Trani L, Gao F, Geyer S, Cashen A, Mehta-Shah N, Kahl B, Bartlett N, Alderuccio J, Lossos I, Ondrejka S, Hsi E, Martin P, Leonard J, Griffith M, Griffith O, Fehniger T. Mutations associated with progression in follicular lymphoma predict inferior outcomes at diagnosis: Alliance A151303. Blood Advances. 2023;7:5524–5539.
GSG2.md
... ...
@@ -1,4 +1,5 @@
1 1
# GSG2
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -6,6 +7,7 @@ timeline
6 7
title Publication timing
7 8
2018-04-12 : Schmitz : DLBCL
8 9
```
10
+
9 11
## Relevance tier by entity
10 12
11 13
|Entity|Tier|Description |
... ...
@@ -30,20 +32,20 @@ timeline
30 32
|FL |No |No |0.000 |0 |
31 33
32 34
33
-> [!NOTE]
34
-> First described in DLBCL in 2018 by [Schmitz R](https://pubmed.ncbi.nlm.nih.gov/29641966)
35 35
36 36
37 37
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/GSG2_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/GSG2_protein_hg38.html)
38 38
39
-![image](images/proteinpaint/GSG2_NM_031965.svg)
39
+![](images/proteinpaint/GSG2_NM_031965.svg)
40 40
41 41
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/GSG2.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/GSG2_hg38.html)
42 42
43
-![image](images/proteinpaint/GSG2.svg)
43
+![](images/proteinpaint/GSG2.svg)
44
+
44 45
## GSG2 Expression
45
-![image](images/gene_expression/GSG2_by_pathology.svg)
46
+![](images/gene_expression/GSG2_by_pathology.svg)
46 47
<!-- ORIGIN: schmitzGeneticsPathogenesisDiffuse2018a -->
47 48
<!-- DLBCL: schmitzGeneticsPathogenesisDiffuse2018a -->
49
+
48 50
## References
49 51
1. Schmitz R, Wright GW, Huang DW, Johnson CA, Phelan JD, Wang JQ, Roulland S, Kasbekar M, Young RM, Shaffer AL, Hodson DJ, Xiao W, Yu X, Yang Y, Zhao H, Xu W, Liu X, Zhou B, Du W, Chan WC, Jaffe ES, Gascoyne RD, Connors JM, Campo E, Lopez-Guillermo A, Rosenwald A, Ott G, Delabie J, Rimsza LM, Tay Kuang Wei K, Zelenetz AD, Leonard JP, Bartlett NL, Tran B, Shetty J, Zhao Y, Soppet DR, Pittaluga S, Wilson WH, Staudt LM. Genetics and Pathogenesis of Diffuse Large B-Cell Lymphoma. N Engl J Med. 2018 Apr 12;378(15):1396–1407. PMCID: PMC6010183
GTSE1.md
... ...
@@ -1,4 +1,5 @@
1 1
# GTSE1
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -6,6 +7,7 @@ timeline
6 7
title Publication timing
7 8
2012-10-04 : Schmitz : BL
8 9
```
10
+
9 11
## Relevance tier by entity
10 12
11 13
|Entity|Tier|Description |
... ...
@@ -29,20 +31,20 @@ timeline
29 31
|FL |No |No |0.000 |0 |
30 32
31 33
32
-> [!NOTE]
33
-> First described in BL in 2022 by [Burkhardt B](https://pubmed.ncbi.nlm.nih.gov/35794096)
34 34
35 35
36 36
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/GTSE1_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/GTSE1_protein_hg38.html)
37 37
38
-![image](images/proteinpaint/GTSE1_NM_016426.svg)
38
+![](images/proteinpaint/GTSE1_NM_016426.svg)
39 39
40 40
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/GTSE1.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/GTSE1_hg38.html)
41 41
42
-![image](images/proteinpaint/GTSE1.svg)
42
+![](images/proteinpaint/GTSE1.svg)
43
+
43 44
## GTSE1 Expression
44
-![image](images/gene_expression/GTSE1_by_pathology.svg)
45
+![](images/gene_expression/GTSE1_by_pathology.svg)
45 46
<!-- ORIGIN: schmitzBurkittLymphomaPathogenesis2012 -->
46 47
<!-- BL: schmitzBurkittLymphomaPathogenesis2012 -->
48
+
47 49
## References
48 50
1. Schmitz R, Young RM, Ceribelli M, Jhavar S, Xiao W, Zhang M, Wright G, Shaffer AL, Hodson DJ, Buras E, Liu X, Powell J, Yang Y, Xu W, Zhao H, Kohlhammer H, Rosenwald A, Kluin P, Müller-Hermelink HK, Ott G, Gascoyne RD, Connors JM, Rimsza LM, Campo E, Jaffe ES, Delabie J, Smeland EB, Ogwang MD, Reynolds SJ, Fisher RI, Braziel RM, Tubbs RR, Cook JR, Weisenburger DD, Chan WC, Pittaluga S, Wilson W, Waldmann TA, Rowe M, Mbulaiteye SM, Rickinson AB, Staudt LM. Burkitt lymphoma pathogenesis and therapeutic targets from structural and functional genomics. Nature. 2012 Oct 4;490(7418):116–120. PMCID: PMC3609867
HDAC7.md
... ...
@@ -1,4 +1,5 @@
1 1
# HDAC7
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -6,6 +7,7 @@ timeline
6 7
title Publication timing
7 8
2013-08-15 : Morin : DLBCL
8 9
```
10
+
9 11
## Relevance tier by entity
10 12
11 13
|Entity|Tier|Description |
... ...
@@ -30,20 +32,20 @@ timeline
30 32
|FL |No |No |6.314 |0 |
31 33
32 34
33
-> [!NOTE]
34
-> First described in DLBCL in 2013 by [Morin RD](https://pubmed.ncbi.nlm.nih.gov/23699601)
35 35
36 36
37 37
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/HDAC7_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/HDAC7_protein_hg38.html)
38 38
39
-![image](images/proteinpaint/HDAC7_NM_015401.svg)
39
+![](images/proteinpaint/HDAC7_NM_015401.svg)
40 40
41 41
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/HDAC7.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/HDAC7_hg38.html)
42 42
43
-![image](images/proteinpaint/HDAC7.svg)
43
+![](images/proteinpaint/HDAC7.svg)
44
+
44 45
## HDAC7 Expression
45
-![image](images/gene_expression/HDAC7_by_pathology.svg)
46
+![](images/gene_expression/HDAC7_by_pathology.svg)
46 47
<!-- ORIGIN: morinMutationalStructuralAnalysis2013 -->
47 48
<!-- DLBCL: morinMutationalStructuralAnalysis2013 -->
49
+
48 50
## References
49 51
1. Morin RD, Mungall K, Pleasance E, Mungall AJ, Goya R, Huff RD, Scott DW, Ding J, Roth A, Chiu R, Corbett RD, Chan FC, Mendez-Lago M, Trinh DL, Bolger-Munro M, Taylor G, Hadj Khodabakhshi A, Ben-Neriah S, Pon J, Meissner B, Woolcock B, Farnoud N, Rogic S, Lim EL, Johnson NA, Shah S, Jones S, Steidl C, Holt R, Birol I, Moore R, Connors JM, Gascoyne RD, Marra MA. Mutational and structural analysis of diffuse large B-cell lymphoma using whole-genome sequencing. Blood. 2013 Aug 15;122(7):1256–1265. PMCID: PMC3744992
HEPH.md
... ...
@@ -1,4 +1,5 @@
1 1
# HEPH
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -6,6 +7,7 @@ timeline
6 7
title Publication timing
7 8
2014-05-08 : Zhang : MCL
8 9
```
10
+
9 11
## Relevance tier by entity
10 12
11 13
|Entity|Tier|Description |
... ...
@@ -27,20 +29,20 @@ timeline
27 29
|FL |No |No |0.000 |0 |
28 30
29 31
30
-> [!NOTE]
31
-> First described in MCL in 2014 by [Zhang J](https://pubmed.ncbi.nlm.nih.gov/24682267)
32 32
33 33
34 34
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/HEPH_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/HEPH_protein_hg38.html)
35 35
36
-![image](images/proteinpaint/HEPH_NM_138737.svg)
36
+![](images/proteinpaint/HEPH_NM_138737.svg)
37 37
38 38
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/HEPH.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/HEPH_hg38.html)
39 39
40
-![image](images/proteinpaint/HEPH.svg)
40
+![](images/proteinpaint/HEPH.svg)
41
+
41 42
## HEPH Expression
42
-![image](images/gene_expression/HEPH_by_pathology.svg)
43
+![](images/gene_expression/HEPH_by_pathology.svg)
43 44
<!-- ORIGIN: zhangGenomicLandscapeMantle2014 -->
44 45
<!-- MCL: zhangGenomicLandscapeMantle2014 -->
46
+
45 47
## References
46 48
1. Zhang J, Jima D, Moffitt AB, Liu Q, Czader M, Hsi ED, Fedoriw Y, Dunphy CH, Richards KL, Gill JI, Sun Z, Love C, Scotland P, Lock E, Levy S, Hsu DS, Dunson D, Dave SS. The genomic landscape of mantle cell lymphoma is related to the epigenetically determined chromatin state of normal B cells. Blood. 2014 May 8;123(19):2988–2996.
HIST1H1B.md
... ...
@@ -1,4 +1,5 @@
1 1
# HIST1H1B
2
+
2 3
## Overview
3 4
This is one of several genes that encode linker histone proteins that are recurrently mutated in DLBCL and FL.<sup>1,2</sup> Mutations are often found in the globular domain of the protein, which is critical for its interaction with DNA and other histone proteins.
4 5
## History
... ...
@@ -10,6 +11,7 @@ timeline
10 11
2018-05-01 : Chapuy : DLBCL
11 12
2021-04-01 : Sarkozy : PMBL
12 13
```
14
+
13 15
## Relevance tier by entity
14 16
15 17
|Entity|Tier|Description |
... ...
@@ -44,17 +46,19 @@ timeline
44 46
45 47
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/HIST1H1B_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/HIST1H1B_protein_hg38.html)
46 48
47
-![image](images/proteinpaint/HIST1H1B_NM_005322.svg)
49
+![](images/proteinpaint/HIST1H1B_NM_005322.svg)
48 50
49 51
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/HIST1H1B.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/HIST1H1B_hg38.html)
50 52
51
-![image](images/proteinpaint/HIST1H1B.svg)
53
+![](images/proteinpaint/HIST1H1B.svg)
54
+
52 55
## HIST1H1B Expression
53
-![image](images/gene_expression/HIST1H1B_by_pathology.svg)
56
+![](images/gene_expression/HIST1H1B_by_pathology.svg)
54 57
<!-- ORIGIN: krysiakRecurrentSomaticMutations2017b -->
55 58
<!-- PMBL: sarkozyMutationalLandscapeGray2021a -->
56 59
<!-- FL: krysiakRecurrentSomaticMutations2017b -->
57 60
<!-- DLBCL: chapuyMolecularSubtypesDiffuse2018b -->
61
+
58 62
## References
59 63
1. Krysiak K, Gomez F, White BS, Matlock M, Miller CA, Trani L, Fronick CC, Fulton RS, Kreisel F, Cashen AF, Carson KR, Berrien-Elliott MM, Bartlett NL, Griffith M, Griffith OL, Fehniger TA. Recurrent somatic mutations affecting B-cell receptor signaling pathway genes in follicular lymphoma. Blood. 2017 Jan 26;129(4):473–483. PMCID: PMC5270390
60 64
2. Chapuy B, Stewart C, Dunford AJ, Kim J, Kamburov A, Redd RA, Lawrence MS, Roemer MGM, Li AJ, Ziepert M, Staiger AM, Wala JA, Ducar MD, Leshchiner I, Rheinbay E, Taylor-Weiner A, Coughlin CA, Hess JM, Pedamallu CS, Livitz D, Rosebrock D, Rosenberg M, Tracy AA, Horn H, van Hummelen P, Feldman AL, Link BK, Novak AJ, Cerhan JR, Habermann TM, Siebert R, Rosenwald A, Thorner AR, Meyerson ML, Golub TR, Beroukhim R, Wulf GG, Ott G, Rodig SJ, Monti S, Neuberg DS, Loeffler M, Pfreundschuh M, Trümper L, Getz G, Shipp MA. Molecular subtypes of diffuse large B cell lymphoma are associated with distinct pathogenic mechanisms and outcomes. Nat Med. 2018 May;24(5):679–690. PMCID: PMC6613387
HIST1H1C.md
... ...
@@ -1,4 +1,5 @@
1 1
# HIST1H1C
2
+
2 3
## Overview
3 4
This is one of several genes that encode linker histone proteins that are recurrently mutated in DLBCL and FL.<sup>1,2</sup> Mutations are often found in the globular domain of the protein, which is critical for its interaction with DNA and other histone proteins.
4 5
... ...
@@ -13,6 +14,7 @@ timeline
13 14
2011-07-27 : Morin : DLBCL
14 15
2019-09-26 : Panea : BL
15 16
```
17
+
16 18
## Relevance tier by entity
17 19
18 20
|Entity|Tier|Description |
... ...
@@ -46,15 +48,15 @@ timeline
46 48
47 49
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/HIST1H1C_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/HIST1H1C_protein_hg38.html)
48 50
49
-![image](images/proteinpaint/HIST1H1C_NM_005319.svg)
51
+![](images/proteinpaint/HIST1H1C_NM_005319.svg)
50 52
51 53
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/HIST1H1C.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/HIST1H1C_hg38.html)
52 54
53
-![image](images/proteinpaint/HIST1H1C.svg)
55
+![](images/proteinpaint/HIST1H1C.svg)
54 56
55 57
56 58
## HIST1H1C Expression
57
-![image](images/gene_expression/HIST1H1C_by_pathology.svg)
59
+![](images/gene_expression/HIST1H1C_by_pathology.svg)
58 60
59 61
## References
60 62
HIST1H1D.md
... ...
@@ -1,4 +1,5 @@
1 1
# HIST1H1D
2
+
2 3
## Overview
3 4
This is one of several genes that encode linker histone proteins that are recurrently mutated in DLBCL and FL.<sup>1,2</sup> Mutations are often found in the globular domain of the protein, which is critical for its interaction with DNA and other histone proteins.
4 5
## History
... ...
@@ -10,6 +11,7 @@ timeline
10 11
2017-01-26 : Krysiak : FL
11 12
2017-07-27 : Jallades : MZL
12 13
```
14
+
13 15
## Relevance tier by entity
14 16
15 17
|Entity|Tier|Description |
... ...
@@ -42,23 +44,23 @@ timeline
42 44
|FL |No |No |0.857 |0 |
43 45
44 46
45
-> [!NOTE]
46
-> First described in DLBCL in 2013 by [Morin RD](https://pubmed.ncbi.nlm.nih.gov/23699601)
47 47
48 48
49 49
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/HIST1H1D_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/HIST1H1D_protein_hg38.html)
50 50
51
-![image](images/proteinpaint/HIST1H1D_NM_005320.svg)
51
+![](images/proteinpaint/HIST1H1D_NM_005320.svg)
52 52
53 53
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/HIST1H1D.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/HIST1H1D_hg38.html)
54 54
55
-![image](images/proteinpaint/HIST1H1D.svg)
55
+![](images/proteinpaint/HIST1H1D.svg)
56
+
56 57
## HIST1H1D Expression
57
-![image](images/gene_expression/HIST1H1D_by_pathology.svg)
58
+![](images/gene_expression/HIST1H1D_by_pathology.svg)
58 59
<!-- ORIGIN: morinMutationalStructuralAnalysis2013 -->
59 60
<!-- FL: krysiakRecurrentSomaticMutations2017b -->
60 61
<!-- DLBCL: morinMutationalStructuralAnalysis2013 -->
61 62
<!-- MZL: jalladesExomeSequencingIdentifies2017 -->
63
+
62 64
## References
63 65
1. Morin RD, Mungall K, Pleasance E, Mungall AJ, Goya R, Huff RD, Scott DW, Ding J, Roth A, Chiu R, Corbett RD, Chan FC, Mendez-Lago M, Trinh DL, Bolger-Munro M, Taylor G, Hadj Khodabakhshi A, Ben-Neriah S, Pon J, Meissner B, Woolcock B, Farnoud N, Rogic S, Lim EL, Johnson NA, Shah S, Jones S, Steidl C, Holt R, Birol I, Moore R, Connors JM, Gascoyne RD, Marra MA. Mutational and structural analysis of diffuse large B-cell lymphoma using whole-genome sequencing. Blood. 2013 Aug 15;122(7):1256–1265. PMCID: PMC3744992
64 66
2. Krysiak K, Gomez F, White BS, Matlock M, Miller CA, Trani L, Fronick CC, Fulton RS, Kreisel F, Cashen AF, Carson KR, Berrien-Elliott MM, Bartlett NL, Griffith M, Griffith OL, Fehniger TA. Recurrent somatic mutations affecting B-cell receptor signaling pathway genes in follicular lymphoma. Blood. 2017 Jan 26;129(4):473–483. PMCID: PMC5270390
HIST1H1E.md
... ...
@@ -1,4 +1,5 @@
1 1
# HIST1H1E
2
+
2 3
## Overview
3 4
This is one of several genes that encode linker histone proteins that are recurrently mutated in DLBCL and FL.<sup>1,2</sup> Mutations are often found in the globular domain of the protein, which is critical for its interaction with DNA and other histone proteins.
4 5
... ...
@@ -14,6 +15,7 @@ timeline
14 15
2017-01-26 : Krysiak : FL
15 16
2019-03-21 : Grande : BL
16 17
```
18
+
17 19
## Relevance tier by entity
18 20
19 21
|Entity|Tier|Description |
... ...
@@ -70,14 +72,14 @@ timeline
70 72
71 73
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/HIST1H1E_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/HIST1H1E_protein_hg38.html)
72 74
73
-![image](images/proteinpaint/HIST1H1E_NM_005321.svg)
75
+![](images/proteinpaint/HIST1H1E_NM_005321.svg)
74 76
75 77
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/HIST1H1E.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/HIST1H1E_hg38.html)
76 78
77
-![image](images/proteinpaint/HIST1H1E.svg)
79
+![](images/proteinpaint/HIST1H1E.svg)
78 80
79 81
## HIST1H1E Expression
80
-![image](images/gene_expression/HIST1H1E_by_pathology.svg)
82
+![](images/gene_expression/HIST1H1E_by_pathology.svg)
81 83
82 84
## References
83 85
1. *Morin RD, Mendez-Lago M, Mungall AJ, Goya R, Mungall KL, Corbett RD, Johnson NA, Severson TM, Chiu R, Field M, Jackman S, Krzywinski M, Scott DW, Trinh DL, Tamura-Wells J, Li S, Firme MR, Rogic S, Griffith M, Chan S, Yakovenko O, Meyer IM, Zhao EY, Smailus D, Moksa M, Chittaranjan S, Rimsza L, Brooks-Wilson A, Spinelli JJ, Ben-Neriah S, Meissner B, Woolcock B, Boyle M, McDonald H, Tam A, Zhao Y, Delaney A, Zeng T, Tse K, Butterfield Y, Birol I, Holt R, Schein J, Horsman DE, Moore R, Jones SJ, Connors JM, Hirst M, Gascoyne RD, Marra MA. Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma. Nature. 2011 Jul 27;476(7360):298-303. doi: 10.1038/nature10351. PMID: 21796119; PMCID: PMC3210554.*
HIST1H2AC.md
... ...
@@ -8,6 +8,7 @@ timeline
8 8
2013-08-15 : Morin : DLBCL
9 9
2017-01-26 : Krysiak : FL
10 10
```
11
+
11 12
## Relevance tier by entity
12 13
13 14
|Entity|Tier|Description |
... ...
@@ -35,8 +36,6 @@ timeline
35 36
36 37
37 38
38
-> [!NOTE]
39
-> First described in DLBCL in 2013 by [Morin RD](https://pubmed.ncbi.nlm.nih.gov/23699601)
40 39
41 40
## HIST1H2AC Hotspots
42 41
... ...
@@ -66,12 +65,14 @@ View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAM
66 65
67 66
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/HIST1H2AC.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/HIST1H2AC_hg38.html)
68 67
69
-![image](images/proteinpaint/HIST1H2AC.svg)
68
+![](images/proteinpaint/HIST1H2AC.svg)
69
+
70 70
## HIST1H2AC Expression
71
-![image](images/gene_expression/HIST1H2AC_by_pathology.svg)
71
+![](images/gene_expression/HIST1H2AC_by_pathology.svg)
72 72
<!-- ORIGIN: morinMutationalStructuralAnalysis2013 -->
73 73
<!-- FL: krysiakRecurrentSomaticMutations2017b -->
74 74
<!-- DLBCL: morinMutationalStructuralAnalysis2013 -->
75
+
75 76
## References
76 77
1. Morin RD, Mungall K, Pleasance E, Mungall AJ, Goya R, Huff RD, Scott DW, Ding J, Roth A, Chiu R, Corbett RD, Chan FC, Mendez-Lago M, Trinh DL, Bolger-Munro M, Taylor G, Hadj Khodabakhshi A, Ben-Neriah S, Pon J, Meissner B, Woolcock B, Farnoud N, Rogic S, Lim EL, Johnson NA, Shah S, Jones S, Steidl C, Holt R, Birol I, Moore R, Connors JM, Gascoyne RD, Marra MA. Mutational and structural analysis of diffuse large B-cell lymphoma using whole-genome sequencing. Blood. 2013 Aug 15;122(7):1256–1265. PMCID: PMC3744992
77 78
2. Krysiak K, Gomez F, White BS, Matlock M, Miller CA, Trani L, Fronick CC, Fulton RS, Kreisel F, Cashen AF, Carson KR, Berrien-Elliott MM, Bartlett NL, Griffith M, Griffith OL, Fehniger TA. Recurrent somatic mutations affecting B-cell receptor signaling pathway genes in follicular lymphoma. Blood. 2017 Jan 26;129(4):473–483. PMCID: PMC5270390
HIST1H2AG.md
... ...
@@ -1,4 +1,5 @@
1 1
# HIST1H2AG
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -9,6 +10,7 @@ timeline
9 10
2017-01-26 : Krysiak : FL
10 11
2019-09-26 : Panea : BL
11 12
```
13
+
12 14
## Relevance tier by entity
13 15
14 16
|Entity|Tier|Description |
... ...
@@ -40,8 +42,6 @@ timeline
40 42
|FL |No |No |0.405 |0 |
41 43
42 44
43
-> [!NOTE]
44
-> First described in BL in 2019 by [Panea RI](https://pubmed.ncbi.nlm.nih.gov/31558468). First described in DLBCL in 2013 by [Morin RD](https://pubmed.ncbi.nlm.nih.gov/23699601)
45 45
46 46
## HIST1H2AG Hotspots
47 47
... ...
@@ -55,18 +55,20 @@ timeline
55 55
56 56
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/HIST1H2AG_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/HIST1H2AG_protein_hg38.html)
57 57
58
-![image](images/proteinpaint/HIST1H2AG_NM_021064.svg)
58
+![](images/proteinpaint/HIST1H2AG_NM_021064.svg)
59 59
60 60
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/HIST1H2AG.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/HIST1H2AG_hg38.html)
61 61
62
-![image](images/proteinpaint/HIST1H2AG.svg)
62
+![](images/proteinpaint/HIST1H2AG.svg)
63
+
63 64
## HIST1H2AG Expression
64
-![image](images/gene_expression/HIST1H2AG_by_pathology.svg)
65
+![](images/gene_expression/HIST1H2AG_by_pathology.svg)
65 66
<!-- ORIGIN: rossiCodingGenomeSplenic2012c -->
66 67
<!-- MZL: rossiCodingGenomeSplenic2012c -->
67 68
<!-- DLBCL: morinMutationalStructuralAnalysis2013 -->
68 69
<!-- BL: paneaWholeGenomeLandscape2019 -->
69 70
<!-- FL: krysiakRecurrentSomaticMutations2017b -->
71
+
70 72
## References
71 73
1. Rossi D, Trifonov V, Fangazio M, Bruscaggin A, Rasi S, Spina V, Monti S, Vaisitti T, Arruga F, Famà R, Ciardullo C, Greco M, Cresta S, Piranda D, Holmes A, Fabbri G, Messina M, Rinaldi A, Wang J, Agostinelli C, Piccaluga PP, Lucioni M, Tabbò F, Serra R, Franceschetti S, Deambrogi C, Daniele G, Gattei V, Marasca R, Facchetti F, Arcaini L, Inghirami G, Bertoni F, Pileri SA, Deaglio S, Foà R, Dalla-Favera R, Pasqualucci L, Rabadan R, Gaidano G. The coding genome of splenic marginal zone lymphoma: activation of NOTCH2 and other pathways regulating marginal zone development. J Exp Med. 2012 Aug 27;209(9):1537–1551. PMCID: PMC3428941
72 74
2. Morin RD, Mungall K, Pleasance E, Mungall AJ, Goya R, Huff RD, Scott DW, Ding J, Roth A, Chiu R, Corbett RD, Chan FC, Mendez-Lago M, Trinh DL, Bolger-Munro M, Taylor G, Hadj Khodabakhshi A, Ben-Neriah S, Pon J, Meissner B, Woolcock B, Farnoud N, Rogic S, Lim EL, Johnson NA, Shah S, Jones S, Steidl C, Holt R, Birol I, Moore R, Connors JM, Gascoyne RD, Marra MA. Mutational and structural analysis of diffuse large B-cell lymphoma using whole-genome sequencing. Blood. 2013 Aug 15;122(7):1256–1265. PMCID: PMC3744992
HIST1H2AM.md
... ...
@@ -1,4 +1,5 @@
1 1
# HIST1H2AM
2
+
2 3
## Overview
3 4
This gene encodes the H2A protein, one of the core proteins comprising nucleosomes. Although relatively common in DLBCL, little is known about the function of these mutations.
4 5
## History
... ...
@@ -9,6 +10,7 @@ timeline
9 10
2017-01-26 : Krysiak : FL
10 11
2019-09-26 : Panea : BL
11 12
```
13
+
12 14
## Relevance tier by entity
13 15
14 16
|Entity|Tier|Description |
... ...
@@ -74,16 +76,18 @@ timeline
74 76
75 77
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/HIST1H2AM_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/HIST1H2AM_protein_hg38.html)
76 78
77
-![image](images/proteinpaint/HIST1H2AM_NM_003514.svg)
79
+![](images/proteinpaint/HIST1H2AM_NM_003514.svg)
78 80
79 81
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/HIST1H2AM.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/HIST1H2AM_hg38.html)
80 82
81
-![image](images/proteinpaint/HIST1H2AM.svg)
83
+![](images/proteinpaint/HIST1H2AM.svg)
84
+
82 85
## HIST1H2AM Expression
83
-![image](images/gene_expression/HIST1H2AM_by_pathology.svg)
86
+![](images/gene_expression/HIST1H2AM_by_pathology.svg)
84 87
<!-- ORIGIN: krysiakRecurrentSomaticMutations2017b -->
85 88
<!-- FL: krysiakRecurrentSomaticMutations2017b -->
86 89
<!-- BL: paneaWholeGenomeLandscape2019 -->
90
+
87 91
## References
88 92
1. Krysiak K, Gomez F, White BS, Matlock M, Miller CA, Trani L, Fronick CC, Fulton RS, Kreisel F, Cashen AF, Carson KR, Berrien-Elliott MM, Bartlett NL, Griffith M, Griffith OL, Fehniger TA. Recurrent somatic mutations affecting B-cell receptor signaling pathway genes in follicular lymphoma. Blood. 2017 Jan 26;129(4):473–483. PMCID: PMC5270390
89 93
2. Panea R, Love C, Shingleton JR, Reddy A, Bailey J, Moormann A, Otieno J, Ong’echa J, Oduor C, Schroêder K, Masalu N, Chao N, Agajanian M, Major M, Fedoriw Y, Richards K, Rymkiewicz G, Miles R, Alobeid B, Bhagat G, Flowers C, Ondrejka S, Hsi E, Choi W, Au-Yeung R, Hartmann W, Lenz G, Meyerson H, Lin YY, Zhuang Y, Luftig M, Waldrop A, Dave T, Thakkar D, Sahay H, Li G, Palus B, Seshadri V, Kim S, Gascoyne R, Levy S, Mukhopadhyay M, Dunson D, Dave S. The whole genome landscape of Burkitt lymphoma subtypes. Blood. 2019;
HIST1H2BC.md
... ...
@@ -1,4 +1,5 @@
1 1
# HIST1H2BC
2
+
2 3
## Overview
3 4
This gene encodes the H2A protein, one of the core proteins comprising nucleosomes. Although relatively common in DLBCL, little is known about the function of these mutations.
4 5
## History
... ...
@@ -10,6 +11,7 @@ timeline
10 11
2017-10-10 : Reddy : DLBCL
11 12
2019-09-05 : Mottok : PMBL
12 13
```
14
+
13 15
## Relevance tier by entity
14 16
15 17
|Entity|Tier|Description |
... ...
@@ -37,8 +39,6 @@ timeline
37 39
|FL |No |No |1.094 | 0.000 |
38 40
39 41
40
-> [!NOTE]
41
-> First described in DLBCL in 2017 by [Reddy A](https://pubmed.ncbi.nlm.nih.gov/28985567)
42 42
43 43
44 44
## HIST1H2BC Hotspots
... ...
@@ -72,13 +72,15 @@ View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAM
72 72
73 73
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/HIST1H2BC.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/HIST1H2BC_hg38.html)
74 74
75
-![image](images/proteinpaint/HIST1H2BC.svg)
75
+![](images/proteinpaint/HIST1H2BC.svg)
76
+
76 77
## HIST1H2BC Expression
77
-![image](images/gene_expression/HIST1H2BC_by_pathology.svg)
78
+![](images/gene_expression/HIST1H2BC_by_pathology.svg)
78 79
<!-- ORIGIN: reddyGeneticFunctionalDrivers2017 -->
79 80
<!-- PMBL: mottokIntegrativeGenomicAnalysis2019b -->
80 81
<!-- FL: krysiakRecurrentSomaticMutations2017b -->
81 82
<!-- DLBCL: reddyGeneticFunctionalDrivers2017 -->
83
+
82 84
## References
83 85
1. Krysiak K, Gomez F, White BS, Matlock M, Miller CA, Trani L, Fronick CC, Fulton RS, Kreisel F, Cashen AF, Carson KR, Berrien-Elliott MM, Bartlett NL, Griffith M, Griffith OL, Fehniger TA. Recurrent somatic mutations affecting B-cell receptor signaling pathway genes in follicular lymphoma. Blood. 2017 Jan 26;129(4):473–483. PMCID: PMC5270390
84 86
2. Reddy A, Zhang J, Davis NS, Moffitt AB, Love CL, Waldrop A, Leppa S, Pasanen A, Meriranta L, Karjalainen-Lindsberg ML, Nørgaard P, Pedersen M, Gang AO, Høgdall E, Heavican TB, Lone W, Iqbal J, Qin Q, Li G, Kim SY, Healy J, Richards KL, Fedoriw Y, Bernal-Mizrachi L, Koff JL, Staton AD, Flowers CR, Paltiel O, Goldschmidt N, Calaminici M, Clear A, Gribben J, Nguyen E, Czader MB, Ondrejka SL, Collie A, Hsi ED, Tse E, Au-Yeung RKH, Kwong YL, Srivastava G, Choi WWL, Evens AM, Pilichowska M, Sengar M, Reddy N, Li S, Chadburn A, Gordon LI, Jaffe ES, Levy S, Rempel R, Tzeng T, Happ LE, Dave T, Rajagopalan D, Datta J, Dunson DB, Dave SS. Genetic and Functional Drivers of Diffuse Large B Cell Lymphoma. Cell. 2017 Oct;171(2):481-494.e15.
HIST1H2BD.md
... ...
@@ -1,4 +1,5 @@
1 1
# HIST1H2BD
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -6,6 +7,7 @@ timeline
6 7
title Publication timing
7 8
2017-01-26 : Krysiak : FL
8 9
```
10
+
9 11
## Relevance tier by entity
10 12
11 13
|Entity|Tier|Description |
... ...
@@ -32,10 +34,12 @@ View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAM
32 34
33 35
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/HIST1H2BD.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/HIST1H2BD_hg38.html)
34 36
35
-![image](images/proteinpaint/HIST1H2BD.svg)
37
+![](images/proteinpaint/HIST1H2BD.svg)
38
+
36 39
## HIST1H2BD Expression
37
-![image](images/gene_expression/HIST1H2BD_by_pathology.svg)
40
+![](images/gene_expression/HIST1H2BD_by_pathology.svg)
38 41
<!-- ORIGIN: krysiakRecurrentSomaticMutations2017b -->
39 42
<!-- FL: krysiakRecurrentSomaticMutations2017b -->
43
+
40 44
## References
41 45
1. Krysiak K, Gomez F, White BS, Matlock M, Miller CA, Trani L, Fronick CC, Fulton RS, Kreisel F, Cashen AF, Carson KR, Berrien-Elliott MM, Bartlett NL, Griffith M, Griffith OL, Fehniger TA. Recurrent somatic mutations affecting B-cell receptor signaling pathway genes in follicular lymphoma. Blood. 2017 Jan 26;129(4):473–483. PMCID: PMC5270390
HIST1H2BG.md
... ...
@@ -1,4 +1,5 @@
1 1
# HIST1H2BG
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -6,6 +7,7 @@ timeline
6 7
title Publication timing
7 8
2017-01-26 : Krysiak : FL
8 9
```
10
+
9 11
## Relevance tier by entity
10 12
11 13
|Entity|Tier|Description |
... ...
@@ -32,10 +34,12 @@ View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAM
32 34
33 35
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/HIST1H2BG.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/HIST1H2BG_hg38.html)
34 36
35
-![image](images/proteinpaint/HIST1H2BG.svg)
37
+![](images/proteinpaint/HIST1H2BG.svg)
38
+
36 39
## HIST1H2BG Expression
37
-![image](images/gene_expression/HIST1H2BG_by_pathology.svg)
40
+![](images/gene_expression/HIST1H2BG_by_pathology.svg)
38 41
<!-- ORIGIN: krysiakRecurrentSomaticMutations2017b -->
39 42
<!-- FL: krysiakRecurrentSomaticMutations2017b -->
43
+
40 44
## References
41 45
1. Krysiak K, Gomez F, White BS, Matlock M, Miller CA, Trani L, Fronick CC, Fulton RS, Kreisel F, Cashen AF, Carson KR, Berrien-Elliott MM, Bartlett NL, Griffith M, Griffith OL, Fehniger TA. Recurrent somatic mutations affecting B-cell receptor signaling pathway genes in follicular lymphoma. Blood. 2017 Jan 26;129(4):473–483. PMCID: PMC5270390
HIST1H2BK.md
... ...
@@ -1,4 +1,5 @@
1 1
# HIST1H2BK
2
+
2 3
## Overview
3 4
This gene encodes the H2A protein, one of the core proteins comprising nucleosomes. Although relatively common in DLBCL, little is known about the function of these mutations.
4 5
## History
... ...
@@ -9,6 +10,7 @@ timeline
9 10
2012-08-27 : Rossi : MZL
10 11
2019-09-26 : Panea : BL
11 12
```
13
+
12 14
## Relevance tier by entity
13 15
14 16
|Entity|Tier|Description |
... ...
@@ -38,22 +40,22 @@ timeline
38 40
|FL |No |No |0.760 |0 |
39 41
40 42
41
-> [!NOTE]
42
-> First described in BL in 2019 by [Panea RI](https://pubmed.ncbi.nlm.nih.gov/31558468)
43 43
44 44
45 45
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/HIST1H2BK_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/HIST1H2BK_protein_hg38.html)
46 46
47
-![image](images/proteinpaint/HIST1H2BK_NM_080593.svg)
47
+![](images/proteinpaint/HIST1H2BK_NM_080593.svg)
48 48
49 49
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/HIST1H2BK.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/HIST1H2BK_hg38.html)
50 50
51
-![image](images/proteinpaint/HIST1H2BK.svg)
51
+![](images/proteinpaint/HIST1H2BK.svg)
52
+
52 53
## HIST1H2BK Expression
53
-![image](images/gene_expression/HIST1H2BK_by_pathology.svg)
54
+![](images/gene_expression/HIST1H2BK_by_pathology.svg)
54 55
<!-- ORIGIN: rossiCodingGenomeSplenic2012c -->
55 56
<!-- MZL: rossiCodingGenomeSplenic2012c -->
56 57
<!-- BL: paneaWholeGenomeLandscape2019 -->
58
+
57 59
## References
58 60
1. Rossi D, Trifonov V, Fangazio M, Bruscaggin A, Rasi S, Spina V, Monti S, Vaisitti T, Arruga F, Famà R, Ciardullo C, Greco M, Cresta S, Piranda D, Holmes A, Fabbri G, Messina M, Rinaldi A, Wang J, Agostinelli C, Piccaluga PP, Lucioni M, Tabbò F, Serra R, Franceschetti S, Deambrogi C, Daniele G, Gattei V, Marasca R, Facchetti F, Arcaini L, Inghirami G, Bertoni F, Pileri SA, Deaglio S, Foà R, Dalla-Favera R, Pasqualucci L, Rabadan R, Gaidano G. The coding genome of splenic marginal zone lymphoma: activation of NOTCH2 and other pathways regulating marginal zone development. J Exp Med. 2012 Aug 27;209(9):1537–1551. PMCID: PMC3428941
59 61
2. Panea R, Love C, Shingleton JR, Reddy A, Bailey J, Moormann A, Otieno J, Ong’echa J, Oduor C, Schroêder K, Masalu N, Chao N, Agajanian M, Major M, Fedoriw Y, Richards K, Rymkiewicz G, Miles R, Alobeid B, Bhagat G, Flowers C, Ondrejka S, Hsi E, Choi W, Au-Yeung R, Hartmann W, Lenz G, Meyerson H, Lin YY, Zhuang Y, Luftig M, Waldrop A, Dave T, Thakkar D, Sahay H, Li G, Palus B, Seshadri V, Kim S, Gascoyne R, Levy S, Mukhopadhyay M, Dunson D, Dave S. The whole genome landscape of Burkitt lymphoma subtypes. Blood. 2019;
HIST1H2BM.md
... ...
@@ -1,4 +1,5 @@
1 1
# HIST1H2BM
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -6,6 +7,7 @@ timeline
6 7
title Publication timing
7 8
2017-01-26 : Krysiak : FL
8 9
```
10
+
9 11
## Relevance tier by entity
10 12
11 13
|Entity|Tier|Description |
... ...
@@ -27,20 +29,20 @@ timeline
27 29
|FL |No |No |1.980 | 0.000 |
28 30
29 31
30
-> [!NOTE]
31
-> First described in FL in 2023 by [Russler-Germain DA](https://pubmed.ncbi.nlm.nih.gov/37493986)
32 32
33 33
34 34
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/HIST1H2BM_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/HIST1H2BM_protein_hg38.html)
35 35
36
-![image](images/proteinpaint/HIST1H2BM_NM_003521.svg)
36
+![](images/proteinpaint/HIST1H2BM_NM_003521.svg)
37 37
38 38
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/HIST1H2BM.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/HIST1H2BM_hg38.html)
39 39
40
-![image](images/proteinpaint/HIST1H2BM.svg)
40
+![](images/proteinpaint/HIST1H2BM.svg)
41
+
41 42
## HIST1H2BM Expression
42
-![image](images/gene_expression/HIST1H2BM_by_pathology.svg)
43
+![](images/gene_expression/HIST1H2BM_by_pathology.svg)
43 44
<!-- ORIGIN: krysiakRecurrentSomaticMutations2017b -->
44 45
<!-- FL: krysiakRecurrentSomaticMutations2017b -->
46
+
45 47
## References
46 48
1. Krysiak K, Gomez F, White BS, Matlock M, Miller CA, Trani L, Fronick CC, Fulton RS, Kreisel F, Cashen AF, Carson KR, Berrien-Elliott MM, Bartlett NL, Griffith M, Griffith OL, Fehniger TA. Recurrent somatic mutations affecting B-cell receptor signaling pathway genes in follicular lymphoma. Blood. 2017 Jan 26;129(4):473–483. PMCID: PMC5270390
HIST1H3B.md
... ...
@@ -1,4 +1,5 @@
1 1
# HIST1H3B
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -7,6 +8,7 @@ timeline
7 8
2013-01-01 : Zhang : DLBCL
8 9
2015-02-12 : Reichel : PMBL
9 10
```
11
+
10 12
## Relevance tier by entity
11 13
12 14
|Entity|Tier|Description |
... ...
@@ -52,12 +54,14 @@ View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAM
52 54
53 55
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/HIST1H3B.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/HIST1H3B_hg38.html)
54 56
55
-![image](images/proteinpaint/HIST1H3B.svg)
57
+![](images/proteinpaint/HIST1H3B.svg)
58
+
56 59
## HIST1H3B Expression
57
-![image](images/gene_expression/HIST1H3B_by_pathology.svg)
60
+![](images/gene_expression/HIST1H3B_by_pathology.svg)
58 61
<!-- ORIGIN: zhangGeneticHeterogeneityDiffuse2013 -->
59 62
<!-- DLBCL: zhangGeneticHeterogeneityDiffuse2013 -->
60 63
<!-- PMBL: reichelFlowSortingExome2015a -->
64
+
61 65
## References
62 66
1. Zhang J, Grubor V, Love CL, Banerjee A, Richards KL, Mieczkowski PA, Dunphy C, Choi W, Au WY, Srivastava G, Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers C, Naresh K, Evens A, Gordon LI, Czader M, Gill JI, Hsi ED, Liu Q, Fan A, Walsh K, Jima D, Smith LL, Johnson AJ, Byrd JC, Luftig MA, Ni T, Zhu J, Chadburn A, Levy S, Dunson D, Dave SS. Genetic heterogeneity of diffuse large B-cell lymphoma. 2013 Jan;
63 67
2. Reichel J, Chadburn A, Rubinstein PG, Giulino-Roth L, Tam W, Liu Y, Gaiolla R, Eng K, Brody J, Inghirami G, Carlo-Stella C, Santoro A, Rahal D, Totonchy J, Elemento O, Cesarman E, Roshal M. Flow sorting and exome sequencing reveal the oncogenome of primary Hodgkin and Reed-Sternberg cells. Blood. 2015 Feb 12;125(7):1061–1072. PMID: 25488972
HIST1H3D.md
... ...
@@ -1,4 +1,5 @@
1 1
# HIST1H3D
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -6,6 +7,7 @@ timeline
6 7
title Publication timing
7 8
2019-09-26 : Panea : BL
8 9
```
10
+
9 11
## Relevance tier by entity
10 12
11 13
|Entity|Tier|Description |
... ...
@@ -29,8 +31,6 @@ timeline
29 31
|FL |No |No |0.000 |0 |
30 32
31 33
32
-> [!NOTE]
33
-> First described in BL in 2019 by [Panea RI](https://pubmed.ncbi.nlm.nih.gov/31558468)
34 34
35 35
36 36
## HIST1H3D Hotspots
... ...
@@ -43,14 +43,16 @@ timeline
43 43
44 44
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/HIST1H3D_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/HIST1H3D_protein_hg38.html)
45 45
46
-![image](images/proteinpaint/HIST1H3D_NM_003530.svg)
46
+![](images/proteinpaint/HIST1H3D_NM_003530.svg)
47 47
48 48
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/HIST1H3D.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/HIST1H3D_hg38.html)
49 49
50
-![image](images/proteinpaint/HIST1H3D.svg)
50
+![](images/proteinpaint/HIST1H3D.svg)
51
+
51 52
## HIST1H3D Expression
52
-![image](images/gene_expression/HIST1H3D_by_pathology.svg)
53
+![](images/gene_expression/HIST1H3D_by_pathology.svg)
53 54
<!-- ORIGIN: paneaWholeGenomeLandscape2019 -->
54 55
<!-- BL: paneaWholeGenomeLandscape2019 -->
56
+
55 57
## References
56 58
1. Panea R, Love C, Shingleton JR, Reddy A, Bailey J, Moormann A, Otieno J, Ong’echa J, Oduor C, Schroêder K, Masalu N, Chao N, Agajanian M, Major M, Fedoriw Y, Richards K, Rymkiewicz G, Miles R, Alobeid B, Bhagat G, Flowers C, Ondrejka S, Hsi E, Choi W, Au-Yeung R, Hartmann W, Lenz G, Meyerson H, Lin YY, Zhuang Y, Luftig M, Waldrop A, Dave T, Thakkar D, Sahay H, Li G, Palus B, Seshadri V, Kim S, Gascoyne R, Levy S, Mukhopadhyay M, Dunson D, Dave S. The whole genome landscape of Burkitt lymphoma subtypes. Blood. 2019;
HIST1H3G.md
... ...
@@ -7,6 +7,7 @@ timeline
7 7
title Publication timing
8 8
2017-01-26 : Krysiak : FL
9 9
```
10
+
10 11
## Relevance tier by entity
11 12
12 13
|Entity|Tier|Description |
... ...
@@ -31,14 +32,16 @@ timeline
31 32
32 33
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/HIST1H3G_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/HIST1H3G_protein_hg38.html)
33 34
34
-![image](images/proteinpaint/HIST1H3G_NM_003534.svg)
35
+![](images/proteinpaint/HIST1H3G_NM_003534.svg)
35 36
36 37
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/HIST1H3G.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/HIST1H3G_hg38.html)
37 38
38
-![image](images/proteinpaint/HIST1H3G.svg)
39
+![](images/proteinpaint/HIST1H3G.svg)
40
+
39 41
## HIST1H3G Expression
40
-![image](images/gene_expression/HIST1H3G_by_pathology.svg)
42
+![](images/gene_expression/HIST1H3G_by_pathology.svg)
41 43
<!-- ORIGIN: krysiakRecurrentSomaticMutations2017b -->
42 44
<!-- FL: krysiakRecurrentSomaticMutations2017b -->
45
+
43 46
## References
44 47
1. Krysiak K, Gomez F, White BS, Matlock M, Miller CA, Trani L, Fronick CC, Fulton RS, Kreisel F, Cashen AF, Carson KR, Berrien-Elliott MM, Bartlett NL, Griffith M, Griffith OL, Fehniger TA. Recurrent somatic mutations affecting B-cell receptor signaling pathway genes in follicular lymphoma. Blood. 2017 Jan 26;129(4):473–483. PMCID: PMC5270390
HIST1H3H.md
... ...
@@ -1,4 +1,5 @@
1 1
# HIST1H3H
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -6,6 +7,7 @@ timeline
6 7
title Publication timing
7 8
2019-09-26 : Panea : BL
8 9
```
10
+
9 11
## Relevance tier by entity
10 12
11 13
|Entity|Tier|Description |
... ...
@@ -29,20 +31,20 @@ timeline
29 31
|FL |No |No |0.000 |0 |
30 32
31 33
32
-> [!NOTE]
33
-> First described in BL in 2019 by [Panea RI](https://pubmed.ncbi.nlm.nih.gov/31558468)
34 34
35 35
36 36
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/HIST1H3H_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/HIST1H3H_protein_hg38.html)
37 37
38
-![image](images/proteinpaint/HIST1H3H_NM_003536.svg)
38
+![](images/proteinpaint/HIST1H3H_NM_003536.svg)
39 39
40 40
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/HIST1H3H.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/HIST1H3H_hg38.html)
41 41
42
-![image](images/proteinpaint/HIST1H3H.svg)
42
+![](images/proteinpaint/HIST1H3H.svg)
43
+
43 44
## HIST1H3H Expression
44
-![image](images/gene_expression/HIST1H3H_by_pathology.svg)
45
+![](images/gene_expression/HIST1H3H_by_pathology.svg)
45 46
<!-- ORIGIN: paneaWholeGenomeLandscape2019 -->
46 47
<!-- BL: paneaWholeGenomeLandscape2019 -->
48
+
47 49
## References
48 50
1. Panea R, Love C, Shingleton JR, Reddy A, Bailey J, Moormann A, Otieno J, Ong’echa J, Oduor C, Schroêder K, Masalu N, Chao N, Agajanian M, Major M, Fedoriw Y, Richards K, Rymkiewicz G, Miles R, Alobeid B, Bhagat G, Flowers C, Ondrejka S, Hsi E, Choi W, Au-Yeung R, Hartmann W, Lenz G, Meyerson H, Lin YY, Zhuang Y, Luftig M, Waldrop A, Dave T, Thakkar D, Sahay H, Li G, Palus B, Seshadri V, Kim S, Gascoyne R, Levy S, Mukhopadhyay M, Dunson D, Dave S. The whole genome landscape of Burkitt lymphoma subtypes. Blood. 2019;
HIST1H3I.md
... ...
@@ -1,4 +1,5 @@
1 1
# HIST1H3I
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -7,6 +8,7 @@ timeline
7 8
2017-01-26 : Krysiak : FL
8 9
2019-09-26 : Panea : BL
9 10
```
11
+
10 12
## Relevance tier by entity
11 13
12 14
|Entity|Tier|Description |
... ...
@@ -32,22 +34,22 @@ timeline
32 34
|FL |No |No |0.838 |0 |
33 35
34 36
35
-> [!NOTE]
36
-> First described in BL in 2019 by [Panea RI](https://pubmed.ncbi.nlm.nih.gov/31558468). First described in FL in 2023 by [Russler-Germain DA](https://pubmed.ncbi.nlm.nih.gov/37493986)
37 37
38 38
39 39
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/HIST1H3I_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/HIST1H3I_protein_hg38.html)
40 40
41
-![image](images/proteinpaint/HIST1H3I_NM_003533.svg)
41
+![](images/proteinpaint/HIST1H3I_NM_003533.svg)
42 42
43 43
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/HIST1H3I.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/HIST1H3I_hg38.html)
44 44
45
-![image](images/proteinpaint/HIST1H3I.svg)
45
+![](images/proteinpaint/HIST1H3I.svg)
46
+
46 47
## HIST1H3I Expression
47
-![image](images/gene_expression/HIST1H3I_by_pathology.svg)
48
+![](images/gene_expression/HIST1H3I_by_pathology.svg)
48 49
<!-- ORIGIN: krysiakRecurrentSomaticMutations2017b -->
49 50
<!-- FL: krysiakRecurrentSomaticMutations2017b -->
50 51
<!-- BL: paneaWholeGenomeLandscape2019 -->
52
+
51 53
## References
52 54
1. Krysiak K, Gomez F, White BS, Matlock M, Miller CA, Trani L, Fronick CC, Fulton RS, Kreisel F, Cashen AF, Carson KR, Berrien-Elliott MM, Bartlett NL, Griffith M, Griffith OL, Fehniger TA. Recurrent somatic mutations affecting B-cell receptor signaling pathway genes in follicular lymphoma. Blood. 2017 Jan 26;129(4):473–483. PMCID: PMC5270390
53 55
2. Panea R, Love C, Shingleton JR, Reddy A, Bailey J, Moormann A, Otieno J, Ong’echa J, Oduor C, Schroêder K, Masalu N, Chao N, Agajanian M, Major M, Fedoriw Y, Richards K, Rymkiewicz G, Miles R, Alobeid B, Bhagat G, Flowers C, Ondrejka S, Hsi E, Choi W, Au-Yeung R, Hartmann W, Lenz G, Meyerson H, Lin YY, Zhuang Y, Luftig M, Waldrop A, Dave T, Thakkar D, Sahay H, Li G, Palus B, Seshadri V, Kim S, Gascoyne R, Levy S, Mukhopadhyay M, Dunson D, Dave S. The whole genome landscape of Burkitt lymphoma subtypes. Blood. 2019;
HIST1H3J.md
... ...
@@ -1,4 +1,5 @@
1 1
# HIST1H3J
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -6,6 +7,7 @@ timeline
6 7
title Publication timing
7 8
2019-09-26 : Panea : BL
8 9
```
10
+
9 11
## Relevance tier by entity
10 12
11 13
|Entity|Tier|Description |
... ...
@@ -29,8 +31,6 @@ timeline
29 31
|FL |No |No |0.000 |0 |
30 32
31 33
32
-> [!NOTE]
33
-> First described in BL in 2019 by [Panea RI](https://pubmed.ncbi.nlm.nih.gov/31558468)
34 34
35 35
36 36
## HIST1H3J Hotspots
... ...
@@ -43,14 +43,16 @@ timeline
43 43
44 44
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/HIST1H3J_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/HIST1H3J_protein_hg38.html)
45 45
46
-![image](images/proteinpaint/HIST1H3J_NM_003535.svg)
46
+![](images/proteinpaint/HIST1H3J_NM_003535.svg)
47 47
48 48
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/HIST1H3J.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/HIST1H3J_hg38.html)
49 49
50
-![image](images/proteinpaint/HIST1H3J.svg)
50
+![](images/proteinpaint/HIST1H3J.svg)
51
+
51 52
## HIST1H3J Expression
52
-![image](images/gene_expression/HIST1H3J_by_pathology.svg)
53
+![](images/gene_expression/HIST1H3J_by_pathology.svg)
53 54
<!-- ORIGIN: paneaWholeGenomeLandscape2019 -->
54 55
<!-- BL: paneaWholeGenomeLandscape2019 -->
56
+
55 57
## References
56 58
1. Panea R, Love C, Shingleton JR, Reddy A, Bailey J, Moormann A, Otieno J, Ong’echa J, Oduor C, Schroêder K, Masalu N, Chao N, Agajanian M, Major M, Fedoriw Y, Richards K, Rymkiewicz G, Miles R, Alobeid B, Bhagat G, Flowers C, Ondrejka S, Hsi E, Choi W, Au-Yeung R, Hartmann W, Lenz G, Meyerson H, Lin YY, Zhuang Y, Luftig M, Waldrop A, Dave T, Thakkar D, Sahay H, Li G, Palus B, Seshadri V, Kim S, Gascoyne R, Levy S, Mukhopadhyay M, Dunson D, Dave S. The whole genome landscape of Burkitt lymphoma subtypes. Blood. 2019;
HIST1H4J.md
... ...
@@ -1,4 +1,5 @@
1 1
# HIST1H4J
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -7,6 +8,7 @@ timeline
7 8
2019-09-05 : Mottok : PMBL
8 9
2019-09-26 : Panea : BL
9 10
```
11
+
10 12
## Relevance tier by entity
11 13
12 14
|Entity|Tier|Description |
... ...
@@ -31,19 +33,18 @@ timeline
31 33
|FL |No |No |0.000 |0 |
32 34
33 35
34
-> [!NOTE]
35
-> First described in BL in 2019 by [Panea RI](https://pubmed.ncbi.nlm.nih.gov/31558468)
36 36
37 37
38 38
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/HIST1H4J_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/HIST1H4J_protein_hg38.html)
39 39
40
-![image](images/proteinpaint/HIST1H4J_NM_021968.svg)
40
+![](images/proteinpaint/HIST1H4J_NM_021968.svg)
41 41
42 42
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/HIST1H4J.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/HIST1H4J_hg38.html)
43 43
44
-![image](images/proteinpaint/HIST1H4J.svg)
44
+![](images/proteinpaint/HIST1H4J.svg)
45
+
45 46
## HIST1H4J Expression
46
-![image](images/gene_expression/HIST1H4J_by_pathology.svg)
47
+![](images/gene_expression/HIST1H4J_by_pathology.svg)
47 48
48 49
## References
49 50
1. Mottok A, Hung SS, Chavez EA, Woolcock B, Telenius A, Chong LC, Meissner B, Nakamura H, Rushton C, Viganò E, Sarkozy C, Gascoyne RD, Connors JM, Ben-Neriah S, Mungall A, Marra MA, Siebert R, Scott DW, Savage KJ, Steidl C. Integrative genomic analysis identifies key pathogenic mechanisms in primary mediastinal large B-cell lymphoma. Blood. 2019 Sep 5;134(10):802–813. PMID: 31292115
HIST2H2BE.md
... ...
@@ -1,4 +1,5 @@
1 1
# HIST2H2BE
2
+
2 3
## Overview
3 4
This gene encodes the H2A protein, one of the core proteins comprising nucleosomes. Although relatively common in DLBCL, little is known about the function of these mutations.
4 5
## History
... ...
@@ -8,6 +9,7 @@ timeline
8 9
title Publication timing
9 10
2018-04-12 : Schmitz : DLBCL
10 11
```
12
+
11 13
## Relevance tier by entity
12 14
13 15
|Entity|Tier|Description |
... ...
@@ -37,10 +39,12 @@ View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAM
37 39
38 40
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/HIST2H2BE.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/HIST2H2BE_hg38.html)
39 41
40
-![image](images/proteinpaint/HIST2H2BE.svg)
42
+![](images/proteinpaint/HIST2H2BE.svg)
43
+
41 44
## HIST2H2BE Expression
42
-![image](images/gene_expression/HIST2H2BE_by_pathology.svg)
45
+![](images/gene_expression/HIST2H2BE_by_pathology.svg)
43 46
<!-- ORIGIN: schmitzGeneticsPathogenesisDiffuse2018a -->
44 47
<!-- DLBCL: schmitzGeneticsPathogenesisDiffuse2018a -->
48
+
45 49
## References
46 50
1. Schmitz R, Wright GW, Huang DW, Johnson CA, Phelan JD, Wang JQ, Roulland S, Kasbekar M, Young RM, Shaffer AL, Hodson DJ, Xiao W, Yu X, Yang Y, Zhao H, Xu W, Liu X, Zhou B, Du W, Chan WC, Jaffe ES, Gascoyne RD, Connors JM, Campo E, Lopez-Guillermo A, Rosenwald A, Ott G, Delabie J, Rimsza LM, Tay Kuang Wei K, Zelenetz AD, Leonard JP, Bartlett NL, Tran B, Shetty J, Zhao Y, Soppet DR, Pittaluga S, Wilson WH, Staudt LM. Genetics and Pathogenesis of Diffuse Large B-Cell Lymphoma. N Engl J Med. 2018 Apr 12;378(15):1396–1407. PMCID: PMC6010183
HLA-A.md
... ...
@@ -1,4 +1,5 @@
1 1
# HLA-A
2
+
2 3
## Overview
3 4
Mutations in the HLA-B gene have been associated with a loss of cell surface expression of HLA class I molecules, which are essential for presenting tumor antigens to cytotoxic T cells. This is a common mechanism of immune escape in DLBCL. Deletions of this gene are more commonly reported than HLA-B mutations.<sup>1</sup> The mutation pattern in DLBCL implies the preferential accumulation of *inactivating mutations*. Different analytical strategies relating to the mapping of sequencing data and subtracting common germline variants can complicate the detection of mutations in this and other HLA genes. Likely owing to this, the rate of mutations is highly variable across studies and the true mutation rate has not been firmly established.
4 5
## History
... ...
@@ -8,6 +9,7 @@ timeline
8 9
title Publication timing
9 10
2019-08-20 : Desch : PMBL
10 11
```
12
+
11 13
## Relevance tier by entity
12 14
13 15
|Entity|Tier|Description |
... ...
@@ -47,16 +49,16 @@ timeline
47 49
48 50
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/HLA-A_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/HLA-A_protein_hg38.html)
49 51
50
-![image](images/proteinpaint/HLA-A_NM_002116.svg)
52
+![](images/proteinpaint/HLA-A_NM_002116.svg)
51 53
52 54
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/HLA-A.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/HLA-A_hg38.html)
53 55
54
-![image](images/proteinpaint/HLA-A.svg)
56
+![](images/proteinpaint/HLA-A.svg)
55 57
56 58
## References
57 59
1. *Riemersma, S., Jordanova, E., Schop, R., Philippo, K., Looijenga, L., Schuuring, E., & Kluin, P. (2000). Extensive genetic alterations of the HLA region, including homozygous deletions of HLA class II genes in B-cell lymphomas arising in immune-privileged sites.. Blood, 96 10, 3569-77 . https://doi.org/10.1182/BLOOD.V96.10.3569.*
58 60
## HLA-A Expression
59
-![image](images/gene_expression/HLA-A_by_pathology.svg)
61
+![](images/gene_expression/HLA-A_by_pathology.svg)
60 62
<!-- ORIGIN: deschGenotypingCirculatingTumor2020 -->
61 63
<!-- BL: 2 -->
62 64
<!-- PMBL: deschGenotypingCirculatingTumor2020 -->
HLA-B.md
... ...
@@ -1,4 +1,5 @@
1 1
# HLA-B
2
+
2 3
## Overview
3 4
Mutations in the HLA-B gene have been associated with a loss of cell surface expression of HLA class I molecules, which are essential for presenting tumor antigens to cytotoxic T cells. This is a common mechanism of immune escape in DLBCL. Deletions of this gene are more commonly reported than HLA-B mutations.<sup>1</sup> The mutation pattern in DLBCL implies the preferential accumulation of *inactivating mutations*. Different analytical strategies relating to the mapping of sequencing data and subtracting common germline variants can complicate the detection of mutations in this and other HLA genes. Likely owing to this, the rate of mutations is highly variable across studies and the true mutation rate has not been firmly established.
4 5
## History
... ...
@@ -8,6 +9,7 @@ timeline
8 9
title Publication timing
9 10
2019-12-10 : Wienand : PMBL
10 11
```
12
+
11 13
## Relevance tier by entity
12 14
13 15
|Entity|Tier|Description |
... ...
@@ -55,14 +57,14 @@ timeline
55 57
56 58
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/HLA-B_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/HLA-B_protein_hg38.html)
57 59
58
-![image](images/proteinpaint/HLA-B_NM_005514.svg)
60
+![](images/proteinpaint/HLA-B_NM_005514.svg)
59 61
60 62
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/HLA-B.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/HLA-B_hg38.html)
61 63
62
-![image](images/proteinpaint/HLA-B.svg)
64
+![](images/proteinpaint/HLA-B.svg)
63 65
64 66
## HLA-B Expression
65
-![image](images/gene_expression/HLA-B_by_pathology.svg)
67
+![](images/gene_expression/HLA-B_by_pathology.svg)
66 68
67 69
## References
68 70
1. *Riemersma, S., Jordanova, E., Schop, R., Philippo, K., Looijenga, L., Schuuring, E., & Kluin, P. (2000). Extensive genetic alterations of the HLA region, including homozygous deletions of HLA class II genes in B-cell lymphomas arising in immune-privileged sites.. Blood, 96 10, 3569-77 . https://doi.org/10.1182/BLOOD.V96.10.3569.*
HLA-C.md
... ...
@@ -1,4 +1,5 @@
1 1
# HLA-C
2
+
2 3
## Overview
3 4
Mutations in the HLA-C gene have been associated with a loss of cell surface expression of HLA class I molecules, which are essential for presenting tumor antigens to cytotoxic T cells. This is a common mechanism of immune escape in DLBCL. Deletions of this gene are more commonly reported than HLA-C mutations.<sup>1</sup> The mutation pattern in DLBCL implies the preferential accumulation of *inactivating mutations*. Different analytical strategies relating to the mapping of sequencing data and subtracting common germline variants can complicate the detection of mutations in this and other HLA genes. Likely owing to this, the rate of mutations is highly variable across studies and the true mutation rate has not been firmly established.
4 5
## History
... ...
@@ -8,6 +9,7 @@ timeline
8 9
title Publication timing
9 10
2023-11-15 : Gomez : PMBL
10 11
```
12
+
11 13
## Relevance tier by entity
12 14
13 15
|Entity|Tier|Description |
... ...
@@ -36,14 +38,16 @@ timeline
36 38
37 39
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/HLA-C_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/HLA-C_protein_hg38.html)
38 40
39
-![image](images/proteinpaint/HLA-C_NM_002117.svg)
41
+![](images/proteinpaint/HLA-C_NM_002117.svg)
40 42
41 43
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/HLA-C.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/HLA-C_hg38.html)
42 44
43
-![image](images/proteinpaint/HLA-C.svg)
45
+![](images/proteinpaint/HLA-C.svg)
46
+
44 47
## HLA-C Expression
45
-![image](images/gene_expression/HLA-C_by_pathology.svg)
48
+![](images/gene_expression/HLA-C_by_pathology.svg)
46 49
<!-- ORIGIN: gomezUltraDeepSequencingReveals2023 -->
47 50
<!-- PMBL: gomezUltraDeepSequencingReveals2023 -->
51
+
48 52
## References
49 53
1. Gomez F, Fisk B, McMichael JF, Mosior M, Foltz JA, Skidmore ZL, Duncavage EJ, Miller CA, Abel H, Li YS, Russler-Germain DA, Krysiak K, Watkins MP, Ramirez CA, Schmidt A, Martins Rodrigues F, Trani L, Khanna A, Wagner JA, Fulton RS, Fronick CC, O’Laughlin MD, Schappe T, Cashen AF, Mehta-Shah N, Kahl BS, Walker J, Bartlett NL, Griffith M, Fehniger TA, Griffith OL. Ultra-Deep Sequencing Reveals the Mutational Landscape of Classical Hodgkin Lymphoma. Cancer Res Commun. 2023 Nov 15;3(11):2312–2330. PMCID: PMC10648575
HLA-DMA.md
... ...
@@ -1,4 +1,5 @@
1 1
# HLA-DMA
2
+
2 3
## Overview
3 4
Mutations in this gene are relatively rare in DLBCL overall. *Without further support, this gene may be migrated to Tier 2.*
4 5
... ...
@@ -29,15 +30,17 @@ Mutations in this gene are relatively rare in DLBCL overall. *Without further su
29 30
30 31
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/HLA-DMA_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/HLA-DMA_protein_hg38.html)
31 32
32
-![image](images/proteinpaint/HLA-DMA_NM_006120.svg)
33
+![](images/proteinpaint/HLA-DMA_NM_006120.svg)
33 34
34 35
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/HLA-DMA.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/HLA-DMA_hg38.html)
35 36
36
-![image](images/proteinpaint/HLA-DMA.svg)
37
+![](images/proteinpaint/HLA-DMA.svg)
37 38
38 39
## HLA-DMA Expression
39
-![image](images/gene_expression/HLA-DMA_by_pathology.svg)
40
+![](images/gene_expression/HLA-DMA_by_pathology.svg)
40 41
41 42
<!-- FLAGGED FOR TIER 2 -->
42 43
43 44
<!-- ORIGIN: Unknown -->
45
+
46
+## References
JAK3.md
... ...
@@ -1,4 +1,5 @@
1 1
# JAK3
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -6,6 +7,7 @@ timeline
6 7
title Publication timing
7 8
2013-01-01 : Zhang : DLBCL
8 9
```
10
+
9 11
## Relevance tier by entity
10 12
11 13
|Entity|Tier|Description |
... ...
@@ -30,20 +32,20 @@ timeline
30 32
|FL |No |No |0.000 |0 |
31 33
32 34
33
-> [!NOTE]
34
-> First described in DLBCL in 2013 by [Zhang J](https://pubmed.ncbi.nlm.nih.gov/23292937)
35 35
36 36
37 37
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/JAK3_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/JAK3_protein_hg38.html)
38 38
39
-![image](images/proteinpaint/JAK3_NM_000215.svg)
39
+![](images/proteinpaint/JAK3_NM_000215.svg)
40 40
41 41
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/JAK3.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/JAK3_hg38.html)
42 42
43
-![image](images/proteinpaint/JAK3.svg)
43
+![](images/proteinpaint/JAK3.svg)
44
+
44 45
## JAK3 Expression
45
-![image](images/gene_expression/JAK3_by_pathology.svg)
46
+![](images/gene_expression/JAK3_by_pathology.svg)
46 47
<!-- ORIGIN: zhangGeneticHeterogeneityDiffuse2013 -->
47 48
<!-- DLBCL: zhangGeneticHeterogeneityDiffuse2013 -->
49
+
48 50
## References
49 51
1. Zhang J, Grubor V, Love CL, Banerjee A, Richards KL, Mieczkowski PA, Dunphy C, Choi W, Au WY, Srivastava G, Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers C, Naresh K, Evens A, Gordon LI, Czader M, Gill JI, Hsi ED, Liu Q, Fan A, Walsh K, Jima D, Smith LL, Johnson AJ, Byrd JC, Luftig MA, Ni T, Zhu J, Chadburn A, Levy S, Dunson D, Dave SS. Genetic heterogeneity of diffuse large B-cell lymphoma. 2013 Jan;
JUNB.md
... ...
@@ -1,4 +1,5 @@
1 1
# JUNB
2
+
2 3
## Overview
3 4
JUNB has been reported to be frequently mutated in T-cell/histiocyte-rich large B-cell lymphoma (THRLBCL).<sup>1</sup> Mutations have also been reported in DLBCL but the mutation rate in the earliest study<sup>2</sup> was likely an over-estimate.<sup>3</sup> According to one study, mutations are often enriched at somatic hypermutation hotspot sites, indicating the involvement of aberrant somatic hypermutation in the pathogenesis of these lymphomas.<sup>1</sup>
4 5
## History
... ...
@@ -9,6 +10,7 @@ timeline
9 10
2017-10-10 : Reddy : DLBCL
10 11
2019-09-05 : Mottok : PMBL
11 12
```
13
+
12 14
## Relevance tier by entity
13 15
14 16
|Entity|Tier|Description |
... ...
@@ -34,8 +36,6 @@ timeline
34 36
|FL |No |No |0.000 |0.00 |
35 37
36 38
37
-> [!NOTE]
38
-> First described in DLBCL in 2017 by [Reddy A](https://pubmed.ncbi.nlm.nih.gov/28985567)
39 39
40 40
> [!WARNING]
41 41
> Mutations in this gene were reported to be inflated in the original results according to [Dreval K](https://www.biorxiv.org/content/10.1101/2023.11.21.567983v1)
... ...
@@ -43,11 +43,11 @@ timeline
43 43
44 44
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/JUNB_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/JUNB_protein_hg38.html)
45 45
46
-![image](images/proteinpaint/JUNB_NM_002229.svg)
46
+![](images/proteinpaint/JUNB_NM_002229.svg)
47 47
48 48
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/JUNB.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/JUNB_hg38.html)
49 49
50
-![image](images/proteinpaint/JUNB.svg)
50
+![](images/proteinpaint/JUNB.svg)
51 51
52 52
## References
53 53
1. *Schuhmacher, B., Bein, J., Rausch, T., Beneš, V., Tousseyn, T., Vornanen, M., Ponzoni, M., Thurner, L., Gascoyne, R., Steidl, C., Küppers, R., Hansmann, M., & Hartmann, S. (2018). JUNB, DUSP2, SGK1, SOCS1 and CREBBP are frequently mutated in T-cell/histiocyte-rich large B-cell lymphoma. Haematologica, 104, 330 - 337. https://doi.org/10.3324/haematol.2018.203224.*
... ...
@@ -56,7 +56,7 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/J
56 56
Kostiantyn Dreval, Manuela Cruz, Christopher Rushton, Nina Liuta, Houman Layegh Mirhosseini, Callum Brown, Ryan D. Morin, the GAMBL consortium
57 57
bioRxiv 2023.11.21.567983; doi: https://doi.org/10.1101/2023.11.21.567983*
58 58
## JUNB Expression
59
-![image](images/gene_expression/JUNB_by_pathology.svg)
59
+![](images/gene_expression/JUNB_by_pathology.svg)
60 60
<!-- ORIGIN: reddyGeneticFunctionalDrivers2017 -->
61 61
<!-- DLBCL: reddyGeneticFunctionalDrivers2017 -->
62 62
<!-- PMBL: mottokIntegrativeGenomicAnalysis2019b -->
JUP.md
... ...
@@ -1,4 +1,5 @@
1 1
# JUP
2
+
2 3
## History
3 4
Mutations in this gene were first described in FL in 2021 by Hübschmann et al.<sup>1</sup>
4 5
... ...
@@ -8,6 +9,7 @@ timeline
8 9
title Publication timing
9 10
2021-05-05 : Hübschmann : FL
10 11
```
12
+
11 13
## Relevance tier by entity
12 14
13 15
|Entity|Tier|Description |
... ...
@@ -31,13 +33,14 @@ timeline
31 33
32 34
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/JUP_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/JUP_protein_hg38.html)
33 35
34
-![image](images/proteinpaint/JUP_NM_002230.svg)
36
+![](images/proteinpaint/JUP_NM_002230.svg)
35 37
36 38
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/JUP.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/JUP_hg38.html)
37 39
38
-![image](images/proteinpaint/JUP.svg)
40
+![](images/proteinpaint/JUP.svg)
41
+
39 42
## JUP Expression
40
-![image](images/gene_expression/JUP_by_pathology.svg)
43
+![](images/gene_expression/JUP_by_pathology.svg)
41 44
42 45
## References
43 46
1. Hübschmann D, Kleinheinz K, Wagener R, Bernhart SH, López C, Toprak UH, Sungalee S, Ishaque N, Kretzmer H, Kreuz M, Waszak SM, Paramasivam N, Ammerpohl O, Aukema SM, Beekman R, Bergmann AK, Bieg M, Binder H, Borkhardt A, Borst C, Brors B, Bruns P, Carrillo de Santa Pau E, Claviez A, Doose G, Haake A, Karsch D, Haas S, Hansmann ML, Hoell JI, Hovestadt V, Huang B, Hummel M, Jäger-Schmidt C, Kerssemakers JNA, Korbel JO, Kube D, Lawerenz C, Lenze D, Martens JHA, Ott G, Radlwimmer B, Reisinger E, Richter J, Rico D, Rosenstiel P, Rosenwald A, Schillhabel M, Stilgenbauer S, Stadler PF, Martín-Subero JI, Szczepanowski M, Warsow G, Weniger MA, Zapatka M, Valencia A, Stunnenberg HG, Lichter P, Möller P, Loeffler M, Eils R, Klapper W, Hoffmann S, Trümper L, ICGC MMML-Seq consortium, ICGC DE-Mining consortium, BLUEPRINT consortium, Küppers R, Schlesner M, Siebert R. Mutational mechanisms shaping the coding and noncoding genome of germinal center derived B-cell lymphomas. Leukemia. 2021 Jul;35(7):2002–2016. PMCID: PMC8257491
KCMF1.md
... ...
@@ -1,4 +1,5 @@
1 1
# KCMF1
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -6,6 +7,7 @@ timeline
6 7
title Publication timing
7 8
2017-10-10 : Reddy : DLBCL
8 9
```
10
+
9 11
## Relevance tier by entity
10 12
11 13
|Entity|Tier|Description |
... ...
@@ -30,20 +32,20 @@ timeline
30 32
|FL |No |No |6.003 |0 |
31 33
32 34
33
-> [!NOTE]
34
-> First described in DLBCL in 2017 by [Reddy A](https://pubmed.ncbi.nlm.nih.gov/28985567)
35 35
36 36
37 37
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/KCMF1_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/KCMF1_protein_hg38.html)
38 38
39
-![image](images/proteinpaint/KCMF1_NM_020122.svg)
39
+![](images/proteinpaint/KCMF1_NM_020122.svg)
40 40
41 41
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/KCMF1.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/KCMF1_hg38.html)
42 42
43
-![image](images/proteinpaint/KCMF1.svg)
43
+![](images/proteinpaint/KCMF1.svg)
44
+
44 45
## KCMF1 Expression
45
-![image](images/gene_expression/KCMF1_by_pathology.svg)
46
+![](images/gene_expression/KCMF1_by_pathology.svg)
46 47
<!-- ORIGIN: reddyGeneticFunctionalDrivers2017 -->
47 48
<!-- DLBCL: reddyGeneticFunctionalDrivers2017 -->
49
+
48 50
## References
49 51
1. Reddy A, Zhang J, Davis NS, Moffitt AB, Love CL, Waldrop A, Leppa S, Pasanen A, Meriranta L, Karjalainen-Lindsberg ML, Nørgaard P, Pedersen M, Gang AO, Høgdall E, Heavican TB, Lone W, Iqbal J, Qin Q, Li G, Kim SY, Healy J, Richards KL, Fedoriw Y, Bernal-Mizrachi L, Koff JL, Staton AD, Flowers CR, Paltiel O, Goldschmidt N, Calaminici M, Clear A, Gribben J, Nguyen E, Czader MB, Ondrejka SL, Collie A, Hsi ED, Tse E, Au-Yeung RKH, Kwong YL, Srivastava G, Choi WWL, Evens AM, Pilichowska M, Sengar M, Reddy N, Li S, Chadburn A, Gordon LI, Jaffe ES, Levy S, Rempel R, Tzeng T, Happ LE, Dave T, Rajagopalan D, Datta J, Dunson DB, Dave SS. Genetic and Functional Drivers of Diffuse Large B Cell Lymphoma. Cell. 2017 Oct;171(2):481-494.e15.
KCNK10.md
... ...
@@ -1,4 +1,5 @@
1 1
# KCNK10
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -6,6 +7,7 @@ timeline
6 7
title Publication timing
7 8
2019-09-26 : Panea : BL
8 9
```
10
+
9 11
## Relevance tier by entity
10 12
11 13
|Entity|Tier|Description |
... ...
@@ -29,20 +31,20 @@ timeline
29 31
|FL |No |No |0.000 |0 |
30 32
31 33
32
-> [!NOTE]
33
-> First described in BL in 2019 by [Panea RI](https://pubmed.ncbi.nlm.nih.gov/31558468)
34 34
35 35
36 36
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/KCNK10_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/KCNK10_protein_hg38.html)
37 37
38
-![image](images/proteinpaint/KCNK10_NM_021161.svg)
38
+![](images/proteinpaint/KCNK10_NM_021161.svg)
39 39
40 40
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/KCNK10.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/KCNK10_hg38.html)
41 41
42
-![image](images/proteinpaint/KCNK10.svg)
42
+![](images/proteinpaint/KCNK10.svg)
43
+
43 44
## KCNK10 Expression
44
-![image](images/gene_expression/KCNK10_by_pathology.svg)
45
+![](images/gene_expression/KCNK10_by_pathology.svg)
45 46
<!-- ORIGIN: paneaWholeGenomeLandscape2019 -->
46 47
<!-- BL: paneaWholeGenomeLandscape2019 -->
48
+
47 49
## References
48 50
1. Panea R, Love C, Shingleton JR, Reddy A, Bailey J, Moormann A, Otieno J, Ong’echa J, Oduor C, Schroêder K, Masalu N, Chao N, Agajanian M, Major M, Fedoriw Y, Richards K, Rymkiewicz G, Miles R, Alobeid B, Bhagat G, Flowers C, Ondrejka S, Hsi E, Choi W, Au-Yeung R, Hartmann W, Lenz G, Meyerson H, Lin YY, Zhuang Y, Luftig M, Waldrop A, Dave T, Thakkar D, Sahay H, Li G, Palus B, Seshadri V, Kim S, Gascoyne R, Levy S, Mukhopadhyay M, Dunson D, Dave S. The whole genome landscape of Burkitt lymphoma subtypes. Blood. 2019;
KIFC3.md
... ...
@@ -1,4 +1,5 @@
1 1
# KIFC3
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -6,6 +7,7 @@ timeline
6 7
title Publication timing
7 8
2012-12-01 : Love : BL
8 9
```
10
+
9 11
## Relevance tier by entity
10 12
11 13
|Entity|Tier|Description |
... ...
@@ -29,20 +31,20 @@ timeline
29 31
|FL |No |No |2.064 |0.00 |
30 32
31 33
32
-> [!NOTE]
33
-> First described in BL in 2012 by [Love C](https://pubmed.ncbi.nlm.nih.gov/23143597)
34 34
35 35
36 36
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/KIFC3_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/KIFC3_protein_hg38.html)
37 37
38
-![image](images/proteinpaint/KIFC3_NM_005550.svg)
38
+![](images/proteinpaint/KIFC3_NM_005550.svg)
39 39
40 40
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/KIFC3.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/KIFC3_hg38.html)
41 41
42
-![image](images/proteinpaint/KIFC3.svg)
42
+![](images/proteinpaint/KIFC3.svg)
43
+
43 44
## KIFC3 Expression
44
-![image](images/gene_expression/KIFC3_by_pathology.svg)
45
+![](images/gene_expression/KIFC3_by_pathology.svg)
45 46
<!-- ORIGIN: loveGeneticLandscapeMutations2012 -->
46 47
<!-- BL: loveGeneticLandscapeMutations2012 -->
48
+
47 49
## References
48 50
1. Love C, Sun Z, Jima D, Li G, Zhang J, Miles R, Richards KL, Dunphy CH, Choi WWL, Srivastava G, Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers CR, Naresh KN, Evens AM, Chadburn A, Gordon LI, Czader MB, Gill JI, Hsi ED, Greenough A, Moffitt AB, McKinney M, Banerjee A, Grubor V, Levy S, Dunson DB, Dave SS. The genetic landscape of mutations in Burkitt lymphoma. Nat Genet. 2012 Dec;44(12):1321–1325. PMCID: PMC3674561
KIR3DL1.md
... ...
@@ -1,4 +1,5 @@
1 1
# KIR3DL1
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -6,6 +7,7 @@ timeline
6 7
title Publication timing
7 8
2023-07-26 : Russler : FL
8 9
```
10
+
9 11
## Relevance tier by entity
10 12
11 13
|Entity|Tier|Description |
... ...
@@ -27,20 +29,20 @@ timeline
27 29
|FL |No |No |0 | 0.000 |
28 30
29 31
30
-> [!NOTE]
31
-> First described in FL in 2023 by [Kalmbach S](https://pubmed.ncbi.nlm.nih.gov/37563306)
32 32
33 33
34 34
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/KIR3DL1_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/KIR3DL1_protein_hg38.html)
35 35
36
-![image](images/proteinpaint/KIR3DL1_NM_013289.svg)
36
+![](images/proteinpaint/KIR3DL1_NM_013289.svg)
37 37
38 38
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/KIR3DL1.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/KIR3DL1_hg38.html)
39 39
40
-![image](images/proteinpaint/KIR3DL1.svg)
40
+![](images/proteinpaint/KIR3DL1.svg)
41
+
41 42
## KIR3DL1 Expression
42
-![image](images/gene_expression/KIR3DL1_by_pathology.svg)
43
+![](images/gene_expression/KIR3DL1_by_pathology.svg)
43 44
<!-- ORIGIN: russler-germainMutationsAssociatedProgression2023a -->
44 45
<!-- FL: russler-germainMutationsAssociatedProgression2023b -->
46
+
45 47
## References
46 48
1. Russler-Germain DA, Krysiak K, Ramirez CA, Mosior M, Watkins MP, Gomez F, Skidmore ZL, Trani L, Gao F, Geyer S, Cashen A, Mehta-Shah N, Kahl B, Bartlett N, Alderuccio J, Lossos I, Ondrejka S, Hsi E, Martin P, Leonard J, Griffith M, Griffith O, Fehniger T. Mutations associated with progression in follicular lymphoma predict inferior outcomes at diagnosis: Alliance A151303. Blood Advances. 2023;7:5524–5539.
KLF2.md
... ...
@@ -1,4 +1,5 @@
1 1
# KLF2
2
+
2 3
## Overview
3 4
KLF2 (Kruppel-like factor 2) is a transcription factor involved in the regulation of various cellular processes, including apoptosis, proliferation, and differentiation. Mutations in KLF2 have been identified in various B-cell lymphomas including DLBCL.<sup>1</sup> KLF2 mutations are among the most common mutations in splenic marginal zone lymphoma (SMZL).<sup>2</sup> KLF2 is one of [a number of genes](https://github.com/morinlab/LLMPP/wiki/ashm) affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus. These mutations are associated with the **BN2** genetic subgroup of DLBCL.<sup>3</sup> KLF2 mutations have been shown to impair the ability of KLF2 to suppress NF-κB activation by TLR, BCR, BAFFR, and TNFR signaling, thereby promoting lymphomagenesis. This implicates KLF2 as a tumor suppressor in B-cell lymphomas.<sup>2</sup> Contradictory to this, the mutation pattern in DLBCL implies selective pressure to retain a full-length protein.
4 5
## History
... ...
@@ -10,6 +11,7 @@ timeline
10 11
2017-07-27 : Jallades : MZL
11 12
2019-08-20 : Desch : PMBL
12 13
```
14
+
13 15
## Relevance tier by entity
14 16
15 17
|Entity|Tier|Description |
... ...
@@ -60,14 +62,14 @@ timeline
60 62
61 63
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/KLF2_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/KLF2_protein_hg38.html)
62 64
63
-![image](images/proteinpaint/KLF2_NM_016270.svg)
65
+![](images/proteinpaint/KLF2_NM_016270.svg)
64 66
65 67
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/KLF2.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/KLF2_hg38.html)
66 68
67
-![image](images/proteinpaint/KLF2.svg)
69
+![](images/proteinpaint/KLF2.svg)
68 70
69 71
## KLF2 Expression
70
-![image](images/gene_expression/KLF2_by_pathology.svg)
72
+![](images/gene_expression/KLF2_by_pathology.svg)
71 73
72 74
## References
73 75
1. *Pasqualucci L, Trifonov V, Fabbri G, Ma J, Rossi D, Chiarenza A, Wells VA, Grunn A, Messina M, Elliot O, Chan J, Bhagat G, Chadburn A, Gaidano G, Mullighan CG, Rabadan R, Dalla-Favera R. Analysis of the coding genome of diffuse large B-cell lymphoma. Nat Genet. 2011 Jul 31;43(9):830-7. doi: 10.1038/ng.892. PMID: 21804550; PMCID: PMC3297422.*
KLHL14.md
... ...
@@ -1,4 +1,5 @@
1 1
# KLHL14
2
+
2 3
## Overview
3 4
KLHL14 (Kelch-like family member 14) is a gene that has been identified as playing a role in B-cell lymphomas, particularly diffuse large B-cell lymphoma (DLBCL).<sup>1</sup> KLHL14 has been identified as a recurrent target of somatic mutations in ABC DLBCLs. These mutations are a feature of the MCD genetic subgroup of DLBCL. The gene encodes a protein involved in the ubiquitin-proteasome system, and its inactivation leads to increased cell proliferation and survival, suggesting its role as a tumor suppressor.<sup>2</sup> KLHL14 loss has been shown to BCR-dependent NF-κB activation and cell survival in DLBCL.<sup>2</sup> This gene has some mutation hotspots but the patter of mutation overall is consistent with its role as a tumor suppressor gene.
4 5
## History
... ...
@@ -8,6 +9,7 @@ timeline
8 9
title Publication timing
9 10
2013-01-01 : Zhang : DLBCL
10 11
```
12
+
11 13
## Relevance tier by entity
12 14
13 15
|Entity|Tier|Description |
... ...
@@ -32,8 +34,6 @@ timeline
32 34
|FL |No |No |12.248 |24.944 |
33 35
34 36
35
-> [!NOTE]
36
-> First described in DLBCL in 2013 by [Zhang J](https://pubmed.ncbi.nlm.nih.gov/23292937)
37 37
38 38
39 39
## KLHL14 Hotspots
... ...
@@ -47,17 +47,17 @@ timeline
47 47
48 48
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/KLHL14_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/KLHL14_protein_hg38.html)
49 49
50
-![image](images/proteinpaint/KLHL14_NM_020805.svg)
50
+![](images/proteinpaint/KLHL14_NM_020805.svg)
51 51
52 52
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/KLHL14.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/KLHL14_hg38.html)
53 53
54
-![image](images/proteinpaint/KLHL14.svg)
54
+![](images/proteinpaint/KLHL14.svg)
55 55
56 56
## References
57 57
1. *Zhang J, Grubor V, Love CL, Banerjee A, Richards KL, Mieczkowski PA, Dunphy C, Choi W, Au WY, Srivastava G, Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers C, Naresh K, Evens A, Gordon LI, Czader M, Gill JI, Hsi ED, Liu Q, Fan A, Walsh K, Jima D, Smith LL, Johnson AJ, Byrd JC, Luftig MA, Ni T, Zhu J, Chadburn A, Levy S, Dunson D, Dave SS. Genetic heterogeneity of diffuse large B-cell lymphoma. Proc Natl Acad Sci U S A. 2013 Jan 22;110(4):1398-403. doi: 10.1073/pnas.1205299110. Epub 2013 Jan 4. PMID: 23292937; PMCID: PMC3557051.*
58 58
2. *Choi J, Phelan JD, Wright GW, Häupl B, Huang DW, Shaffer AL 3rd, Young RM, Wang Z, Zhao H, Yu X, Oellerich T, Staudt LM. Regulation of B cell receptor-dependent NF-κB signaling by the tumor suppressor KLHL14. Proc Natl Acad Sci U S A. 2020 Mar 17;117(11):6092-6102. doi: 10.1073/pnas.1921187117. Epub 2020 Mar 3. PMID: 32127472; PMCID: PMC7084139.*
59 59
60 60
## KLHL14 Expression
61
-![image](images/gene_expression/KLHL14_by_pathology.svg)
61
+![](images/gene_expression/KLHL14_by_pathology.svg)
62 62
<!-- ORIGIN: zhangGeneticHeterogeneityDiffuse2013 -->
63 63
<!-- DLBCL: zhangGeneticHeterogeneityDiffuse2013 -->
KLHL21.md
... ...
@@ -1,4 +1,5 @@
1 1
# KLHL21
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -6,6 +7,7 @@ timeline
6 7
title Publication timing
7 8
2018-04-12 : Schmitz : DLBCL
8 9
```
10
+
9 11
## Relevance tier by entity
10 12
11 13
|Entity|Tier|Description |
... ...
@@ -35,20 +37,20 @@ timeline
35 37
|:--------:|:----------:|:--------:|:---------------------------------------------------------------------------------------:|:------------------:|
36 38
|chr1 |6661482 |6662702 |[TSS](https://genome.ucsc.edu/s/rdmorin/GAMBL%20hg19?position=chr1%3A6661482%2D6662702)|NA |
37 39
38
-> [!NOTE]
39
-> First described in DLBCL in 2018 by [Schmitz R](https://pubmed.ncbi.nlm.nih.gov/29641966)
40 40
41 41
42 42
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/KLHL21_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/KLHL21_protein_hg38.html)
43 43
44
-![image](images/proteinpaint/KLHL21_NM_014851.svg)
44
+![](images/proteinpaint/KLHL21_NM_014851.svg)
45 45
46 46
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/KLHL21.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/KLHL21_hg38.html)
47 47
48
-![image](images/proteinpaint/KLHL21.svg)
48
+![](images/proteinpaint/KLHL21.svg)
49
+
49 50
## KLHL21 Expression
50
-![image](images/gene_expression/KLHL21_by_pathology.svg)
51
+![](images/gene_expression/KLHL21_by_pathology.svg)
51 52
<!-- ORIGIN: schmitzGeneticsPathogenesisDiffuse2018a -->
52 53
<!-- DLBCL: schmitzGeneticsPathogenesisDiffuse2018a -->
54
+
53 55
## References
54 56
1. Schmitz R, Wright GW, Huang DW, Johnson CA, Phelan JD, Wang JQ, Roulland S, Kasbekar M, Young RM, Shaffer AL, Hodson DJ, Xiao W, Yu X, Yang Y, Zhao H, Xu W, Liu X, Zhou B, Du W, Chan WC, Jaffe ES, Gascoyne RD, Connors JM, Campo E, Lopez-Guillermo A, Rosenwald A, Ott G, Delabie J, Rimsza LM, Tay Kuang Wei K, Zelenetz AD, Leonard JP, Bartlett NL, Tran B, Shetty J, Zhao Y, Soppet DR, Pittaluga S, Wilson WH, Staudt LM. Genetics and Pathogenesis of Diffuse Large B-Cell Lymphoma. N Engl J Med. 2018 Apr 12;378(15):1396–1407. PMCID: PMC6010183
KLHL26.md
... ...
@@ -1,4 +1,5 @@
1 1
# KLHL26
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -6,6 +7,7 @@ timeline
6 7
title Publication timing
7 8
2022-07-06 : Burkhardt : BL
8 9
```
10
+
9 11
## Relevance tier by entity
10 12
11 13
|Entity|Tier|Description |
... ...
@@ -29,20 +31,20 @@ timeline
29 31
|FL |No |No |0.000 |0 |
30 32
31 33
32
-> [!NOTE]
33
-> First described in BL in 2022 by [Burkhardt B](https://pubmed.ncbi.nlm.nih.gov/35794096)
34 34
35 35
36 36
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/KLHL26_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/KLHL26_protein_hg38.html)
37 37
38
-![image](images/proteinpaint/KLHL26_NM_018316.svg)
38
+![](images/proteinpaint/KLHL26_NM_018316.svg)
39 39
40 40
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/KLHL26.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/KLHL26_hg38.html)
41 41
42
-![image](images/proteinpaint/KLHL26.svg)
42
+![](images/proteinpaint/KLHL26.svg)
43
+
43 44
## KLHL26 Expression
44
-![image](images/gene_expression/KLHL26_by_pathology.svg)
45
+![](images/gene_expression/KLHL26_by_pathology.svg)
45 46
<!-- ORIGIN: burkhardtClinicalRelevanceMolecular2022b -->
46 47
<!-- BL: burkhardtClinicalRelevanceMolecular2022b -->
48
+
47 49
## References
48 50
1. Burkhardt B, Michgehl U, Rohde J, Erdmann T, Berning P, Reutter K, Rohde M, Borkhardt A, Burmeister T, Dave S, Tzankov A, Dugas M, Sandmann S, Fend F, Finger J, Mueller S, Gökbuget N, Haferlach T, Kern W, Hartmann W, Klapper W, Oschlies I, Richter J, Kontny U, Lutz M, Maecker-Kolhoff B, Ott G, Rosenwald A, Siebert R, von Stackelberg A, Strahm B, Woessmann W, Zimmermann M, Zapukhlyak M, Grau M, Lenz G. Clinical relevance of molecular characteristics in Burkitt lymphoma differs according to age. Nat Commun. 2022 Jul 6;13(1):3881. PMCID: PMC9259584
KLHL6.md
... ...
@@ -1,4 +1,5 @@
1 1
# KLHL6
2
+
2 3
## Overview
3 4
KLHL6 mutations appear to be relatively common in DLBCL, FL and possibly BL.<sup>1</sup> KLHL6 is one of [a number of genes](https://github.com/morinlab/LLMPP/wiki/ashm) affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus. KLHL6 mutations lead to the loss of its function as part of a cullin-RING ubiquitin ligase complex.
4 5
KLHL6 is considered a tumor suppressor gene in DLBCL with mutations tending to disrupt its interaction with cullin3, leading to the loss of its ligase activity.<sup>2</sup>
... ...
@@ -77,14 +78,14 @@ timeline
77 78
78 79
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/KLHL6_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/KLHL6_protein_hg38.html)
79 80
80
-![image](images/proteinpaint/KLHL6_NM_130446.svg)
81
+![](images/proteinpaint/KLHL6_NM_130446.svg)
81 82
82 83
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/KLHL6.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/KLHL6_hg38.html)
83 84
84
-![image](images/proteinpaint/KLHL6.svg)
85
+![](images/proteinpaint/KLHL6.svg)
85 86
86 87
## KLHL6 Expression
87
-![image](images/gene_expression/KLHL6_by_pathology.svg)
88
+![](images/gene_expression/KLHL6_by_pathology.svg)
88 89
<!-- ORIGIN: morinFrequentMutationHistonemodifying2011 -->
89 90
90 91
## References
KMT2C.md
... ...
@@ -1,4 +1,5 @@
1 1
# KMT2C
2
+
2 3
## Overview
3 4
This gene has been reported to be recurrently mutated in DLBCL. The rate of mutations in KMT2C (MLL3) varies across published cohorts. In the initial study describing these mutations, it was suggested to be mutated in >15% of DLBCLs.<sup>1</sup> The actual rate of mutations may be much lower,<sup>2</sup> potentially due to the existence of germline variants in some studies.<sup>3</sup> A more recent study suggested KMT2C mutations were more common in DLBCLs in patients of African ancestry.<sup>4</sup> Although KMT2C mutations have been described as a feature of MCL in a single study, this pattern was not reproduced in other cohorts.<sup>5</sup>
4 5
... ...
@@ -45,17 +46,15 @@ timeline
45 46
|FL |No |No |0.550 |0.000 |
46 47
47 48
48
-> [!NOTE]
49
-> First described in BL in 2019 by [Zhou P](https://pubmed.ncbi.nlm.nih.gov/31300419). First described in DLBCL in 2013 by [Zhang J](https://pubmed.ncbi.nlm.nih.gov/23292937). First described in MCL in 2014 by [Zhang J](https://pubmed.ncbi.nlm.nih.gov/24682267)
50 49
51 50
52 51
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/KMT2C_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/KMT2C_protein_hg38.html)
53 52
54
-![image](images/proteinpaint/KMT2C_NM_170606.svg)
53
+![](images/proteinpaint/KMT2C_NM_170606.svg)
55 54
56 55
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/KMT2C.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/KMT2C_hg38.html)
57 56
58
-![image](images/proteinpaint/KMT2C.svg)
57
+![](images/proteinpaint/KMT2C.svg)
59 58
60 59
## References
61 60
1. *Zhang J, Grubor V, Love CL, Banerjee A, Richards KL, Mieczkowski PA, Dunphy C, Choi W, Au WY, Srivastava G, Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers C, Naresh K, Evens A, Gordon LI, Czader M, Gill JI, Hsi ED, Liu Q, Fan A, Walsh K, Jima D, Smith LL, Johnson AJ, Byrd JC, Luftig MA, Ni T, Zhu J, Chadburn A, Levy S, Dunson D, Dave SS. Genetic heterogeneity of diffuse large B-cell lymphoma. Proc Natl Acad Sci U S A. 2013 Jan 22;110(4):1398-403. doi: 10.1073/pnas.1205299110. Epub 2013 Jan 4. PMID: 23292937; PMCID: PMC3557051.*
... ...
@@ -64,7 +63,7 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/K
64 63
4. *Lee MJ, Koff JL, Switchenko JM, Jhaney CI, Harkins RA, Patel SP, Dave SS, Flowers CR. Genome-defined African ancestry is associated with distinct mutations and worse survival in patients with diffuse large B-cell lymphoma. Cancer. 2020 Aug 1;126(15):3493-3503. doi: 10.1002/cncr.32866. Epub 2020 May 29. PMID: 32469082; PMCID: PMC7494053.*
65 64
5. *Zhang J, Jima D, Moffitt AB, Liu Q, Czader M, Hsi ED, Fedoriw Y, Dunphy CH, Richards KL, Gill JI, Sun Z, Love C, Scotland P, Lock E, Levy S, Hsu DS, Dunson D, Dave SS. The genomic landscape of mantle cell lymphoma is related to the epigenetically determined chromatin state of normal B cells. Blood. 2014 May 8;123(19):2988-96. doi: 10.1182/blood-2013-07-517177. Epub 2014 Mar 28. PMID: 24682267; PMCID: PMC4014841.*
66 65
## KMT2C Expression
67
-![image](images/gene_expression/KMT2C_by_pathology.svg)
66
+![](images/gene_expression/KMT2C_by_pathology.svg)
68 67
<!-- ORIGIN: zhangGeneticHeterogeneityDiffuse2013 -->
69 68
<!-- BL: zhouSporadicEndemicBurkitt2019 -->
70 69
<!-- BL: zhouSporadicEndemicBurkitt2019 -->
KMT2D.md
... ...
@@ -1,4 +1,5 @@
1 1
# KMT2D
2
+
2 3
## Overview
3 4
KMT2D (also known as MLL2) encodes a histone H3K4 methyltransferase, playing a crucial role in germinal center B cell development and function. Mutations in KMT2D are among the most common mutations in FL and are also common in DLBCL.<sup>1</sup> KMT2D mutations are recurrent but less common in BL and MCL and many other B-cell neoplasms. Mutations typically cause loss of KMT2D function, leading to diminished H3K4 methylation, impacting gene expression that favours lymphomagenesis. KMT2D mutations are associated with poor prognosis in DLBCL.<sup>2,3</sup>
4 5
... ...
@@ -16,6 +17,7 @@ timeline
16 17
2019-03-21 : Grande : BL
17 18
2019-08-20 : Desch : PMBL
18 19
```
20
+
19 21
## Relevance tier by entity
20 22
21 23
|Entity|Tier|Description |
... ...
@@ -51,14 +53,14 @@ timeline
51 53
52 54
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/KMT2D_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/KMT2D_protein_hg38.html)
53 55
54
-![image](images/proteinpaint/KMT2D_NM_003482.svg)
56
+![](images/proteinpaint/KMT2D_NM_003482.svg)
55 57
56 58
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/KMT2D.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/KMT2D_hg38.html)
57 59
58
-![image](images/proteinpaint/KMT2D.svg)
60
+![](images/proteinpaint/KMT2D.svg)
59 61
60 62
## KMT2D Expression
61
-![image](images/gene_expression/KMT2D_by_pathology.svg)
63
+![](images/gene_expression/KMT2D_by_pathology.svg)
62 64
63 65
64 66
KRAS.md
... ...
@@ -1,4 +1,5 @@
1 1
# KRAS
2
+
2 3
## Overview
3 4
KRAS mutations are rare but occur in some cases of DLBCL.<sup>1</sup> These often affect the most common KRAS hotspot sites that are mutated in other solid cancers (G12 and G13).
4 5
## History
... ...
@@ -8,6 +9,7 @@ timeline
8 9
title Publication timing
9 10
2012-03-06 : Lohr : DLBCL
10 11
```
12
+
11 13
## Relevance tier by entity
12 14
13 15
|Entity|Tier|Description |
... ...
@@ -32,8 +34,6 @@ timeline
32 34
|FL |No |No | 9.959 |0 |
33 35
34 36
35
-> [!NOTE]
36
-> First described in DLBCL in 2012 by [Lohr JG](https://pubmed.ncbi.nlm.nih.gov/22343534)
37 37
38 38
39 39
## KRAS Hotspots
... ...
@@ -48,14 +48,14 @@ timeline
48 48
49 49
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/KRAS_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/KRAS_protein_hg38.html)
50 50
51
-![image](images/proteinpaint/KRAS_NM_033360.svg)
51
+![](images/proteinpaint/KRAS_NM_033360.svg)
52 52
53 53
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/KRAS.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/KRAS_hg38.html)
54 54
55
-![image](images/proteinpaint/KRAS.svg)
55
+![](images/proteinpaint/KRAS.svg)
56 56
57 57
## KRAS Expression
58
-![image](images/gene_expression/KRAS_by_pathology.svg)
58
+![](images/gene_expression/KRAS_by_pathology.svg)
59 59
60 60
## References
61 61
1. *Lohr JG, Stojanov P, Lawrence MS, Auclair D, Chapuy B, Sougnez C, Cruz-Gordillo P, Knoechel B, Asmann YW, Slager SL, Novak AJ, Dogan A, Ansell SM, Link BK, Zou L, Gould J, Saksena G, Stransky N, Rangel-Escareño C, Fernandez-Lopez JC, Hidalgo-Miranda A, Melendez-Zajgla J, Hernández-Lemus E, Schwarz-Cruz y Celis A, Imaz-Rosshandler I, Ojesina AI, Jung J, Pedamallu CS, Lander ES, Habermann TM, Cerhan JR, Shipp MA, Getz G, Golub TR. Discovery and prioritization of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencing. Proc Natl Acad Sci U S A. 2012 Mar 6;109(10):3879-84. doi: 10.1073/pnas.1121343109. Epub 2012 Feb 17. PMID: 22343534; PMCID: PMC3309757.*
LAMA5.md
... ...
@@ -1,4 +1,5 @@
1 1
# LAMA5
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -6,6 +7,7 @@ timeline
6 7
title Publication timing
7 8
2018-04-12 : Schmitz : DLBCL
8 9
```
10
+
9 11
## Relevance tier by entity
10 12
11 13
|Entity|Tier|Description |
... ...
@@ -30,20 +32,20 @@ timeline
30 32
|FL |No |No |0.000 |0.000 |
31 33
32 34
33
-> [!NOTE]
34
-> First described in DLBCL in 2018 by [Schmitz R](https://pubmed.ncbi.nlm.nih.gov/29641966)
35 35
36 36
37 37
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/LAMA5_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/LAMA5_protein_hg38.html)
38 38
39
-![image](images/proteinpaint/LAMA5_NM_005560.svg)
39
+![](images/proteinpaint/LAMA5_NM_005560.svg)
40 40
41 41
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/LAMA5.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/LAMA5_hg38.html)
42 42
43
-![image](images/proteinpaint/LAMA5.svg)
43
+![](images/proteinpaint/LAMA5.svg)
44
+
44 45
## LAMA5 Expression
45
-![image](images/gene_expression/LAMA5_by_pathology.svg)
46
+![](images/gene_expression/LAMA5_by_pathology.svg)
46 47
<!-- ORIGIN: schmitzGeneticsPathogenesisDiffuse2018a -->
47 48
<!-- DLBCL: schmitzGeneticsPathogenesisDiffuse2018a -->
49
+
48 50
## References
49 51
1. Schmitz R, Wright GW, Huang DW, Johnson CA, Phelan JD, Wang JQ, Roulland S, Kasbekar M, Young RM, Shaffer AL, Hodson DJ, Xiao W, Yu X, Yang Y, Zhao H, Xu W, Liu X, Zhou B, Du W, Chan WC, Jaffe ES, Gascoyne RD, Connors JM, Campo E, Lopez-Guillermo A, Rosenwald A, Ott G, Delabie J, Rimsza LM, Tay Kuang Wei K, Zelenetz AD, Leonard JP, Bartlett NL, Tran B, Shetty J, Zhao Y, Soppet DR, Pittaluga S, Wilson WH, Staudt LM. Genetics and Pathogenesis of Diffuse Large B-Cell Lymphoma. N Engl J Med. 2018 Apr 12;378(15):1396–1407. PMCID: PMC6010183
LAPTM5.md
... ...
@@ -1,4 +1,5 @@
1 1
# LAPTM5
2
+
2 3
## History
3 4
Mutations in this gene were first described in DLBCL and FL in 2021 by Hübschmann et al.<sup>1</sup>
4 5
... ...
@@ -8,6 +9,7 @@ timeline
8 9
title Publication timing
9 10
2021-05-05 : H : FL
10 11
```
12
+
11 13
## Relevance tier by entity
12 14
13 15
|Entity|Tier|Description |
... ...
@@ -42,14 +44,14 @@ timeline
42 44
43 45
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/LAPTM5_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/LAPTM5_protein_hg38.html)
44 46
45
-![image](images/proteinpaint/LAPTM5_NM_006762.svg)
47
+![](images/proteinpaint/LAPTM5_NM_006762.svg)
46 48
47 49
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/LAPTM5.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/LAPTM5_hg38.html)
48 50
49
-![image](images/proteinpaint/LAPTM5.svg)
51
+![](images/proteinpaint/LAPTM5.svg)
50 52
51 53
## LAPTM5 Expression
52
-![image](images/gene_expression/LAPTM5_by_pathology.svg)
54
+![](images/gene_expression/LAPTM5_by_pathology.svg)
53 55
54 56
## References
55 57
1. Hübschmann D, Kleinheinz K, Wagener R, Bernhart SH, López C, Toprak UH, Sungalee S, Ishaque N, Kretzmer H, Kreuz M, Waszak SM, Paramasivam N, Ammerpohl O, Aukema SM, Beekman R, Bergmann AK, Bieg M, Binder H, Borkhardt A, Borst C, Brors B, Bruns P, Carrillo de Santa Pau E, Claviez A, Doose G, Haake A, Karsch D, Haas S, Hansmann ML, Hoell JI, Hovestadt V, Huang B, Hummel M, Jäger-Schmidt C, Kerssemakers JNA, Korbel JO, Kube D, Lawerenz C, Lenze D, Martens JHA, Ott G, Radlwimmer B, Reisinger E, Richter J, Rico D, Rosenstiel P, Rosenwald A, Schillhabel M, Stilgenbauer S, Stadler PF, Martín-Subero JI, Szczepanowski M, Warsow G, Weniger MA, Zapatka M, Valencia A, Stunnenberg HG, Lichter P, Möller P, Loeffler M, Eils R, Klapper W, Hoffmann S, Trümper L, ICGC MMML-Seq consortium, ICGC DE-Mining consortium, BLUEPRINT consortium, Küppers R, Schlesner M, Siebert R. Mutational mechanisms shaping the coding and noncoding genome of germinal center derived B-cell lymphomas. Leukemia. 2021 Jul;35(7):2002–2016. PMCID: PMC8257491
LCOR.md
... ...
@@ -1,4 +1,5 @@
1 1
# LCOR
2
+
2 3
## Overview
3 4
LCOR (Ligand Dependent Nuclear Receptor Corepressor) is involved in the regulation of gene expression by acting as a corepressor for various nuclear receptors and transcription factors. It influences chromatin structure and gene transcription, which can impact cell growth and differentiation. Although recurrently mutated in DLBCL, owing to different annotations of this gene and C10orf12 in hg19 and hg38, there is some confusion about the mutation rate.
4 5
## History
... ...
@@ -8,6 +9,7 @@ timeline
8 9
title Publication timing
9 10
2018-10-01 : Arthur : DLBCL
10 11
```
12
+
11 13
## Relevance tier by entity
12 14
13 15
|Entity|Tier|Description |
... ...
@@ -40,15 +42,17 @@ timeline
40 42
41 43
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/LCOR_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/LCOR_protein_hg38.html)
42 44
43
-![image](images/proteinpaint/LCOR_NM_001346516.svg)
45
+![](images/proteinpaint/LCOR_NM_001346516.svg)
44 46
45 47
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/LCOR.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/LCOR_hg38.html)
46 48
47
-![image](images/proteinpaint/LCOR_hg38.svg)
49
+![](images/proteinpaint/LCOR_hg38.svg)
50
+
48 51
## LCOR Expression
49
-![image](images/gene_expression/LCOR_by_pathology.svg)
52
+![](images/gene_expression/LCOR_by_pathology.svg)
50 53
<!-- ORIGIN: 30275490 -->
51 54
<!-- BL: 2 -->
52 55
<!-- DLBCL: arthurGenomewideDiscoverySomatic2018 -->
56
+
53 57
## References
54 58
1. Arthur SE, Jiang A, Grande BM, Alcaide M, Cojocaru R, Rushton CK, Mottok A, Hilton LK, Lat PK, Zhao EY, Culibrk L, Ennishi D, Jessa S, Chong L, Thomas N, Pararajalingam P, Meissner B, Boyle M, Davidson J, Bushell KR, Lai D, Farinha P, Slack GW, Morin GB, Shah S, Sen D, Jones SJM, Mungall AJ, Gascoyne RD, Audas TE, Unrau P, Marra MA, Connors JM, Steidl C, Scott DW, Morin RD. Genome-wide discovery of somatic regulatory variants in diffuse large B-cell lymphoma. Nat Commun. 2018 Oct 1;9(1):4001. PMCID: PMC6167379
LIN54.md
... ...
@@ -1,4 +1,5 @@
1 1
# LIN54
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -6,6 +7,7 @@ timeline
6 7
title Publication timing
7 8
2017-10-10 : Reddy : DLBCL
8 9
```
10
+
9 11
## Relevance tier by entity
10 12
11 13
|Entity|Tier|Description |
... ...
@@ -30,20 +32,20 @@ timeline
30 32
|FL |No |No |0.000 | 0.000 |
31 33
32 34
33
-> [!NOTE]
34
-> First described in DLBCL in 2017 by [Reddy A](https://pubmed.ncbi.nlm.nih.gov/28985567)
35 35
36 36
37 37
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/LIN54_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/LIN54_protein_hg38.html)
38 38
39
-![image](images/proteinpaint/LIN54_NM_194282.svg)
39
+![](images/proteinpaint/LIN54_NM_194282.svg)
40 40
41 41
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/LIN54.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/LIN54_hg38.html)
42 42
43
-![image](images/proteinpaint/LIN54.svg)
43
+![](images/proteinpaint/LIN54.svg)
44
+
44 45
## LIN54 Expression
45
-![image](images/gene_expression/LIN54_by_pathology.svg)
46
+![](images/gene_expression/LIN54_by_pathology.svg)
46 47
<!-- ORIGIN: reddyGeneticFunctionalDrivers2017 -->
47 48
<!-- DLBCL: reddyGeneticFunctionalDrivers2017 -->
49
+
48 50
## References
49 51
1. Reddy A, Zhang J, Davis NS, Moffitt AB, Love CL, Waldrop A, Leppa S, Pasanen A, Meriranta L, Karjalainen-Lindsberg ML, Nørgaard P, Pedersen M, Gang AO, Høgdall E, Heavican TB, Lone W, Iqbal J, Qin Q, Li G, Kim SY, Healy J, Richards KL, Fedoriw Y, Bernal-Mizrachi L, Koff JL, Staton AD, Flowers CR, Paltiel O, Goldschmidt N, Calaminici M, Clear A, Gribben J, Nguyen E, Czader MB, Ondrejka SL, Collie A, Hsi ED, Tse E, Au-Yeung RKH, Kwong YL, Srivastava G, Choi WWL, Evens AM, Pilichowska M, Sengar M, Reddy N, Li S, Chadburn A, Gordon LI, Jaffe ES, Levy S, Rempel R, Tzeng T, Happ LE, Dave T, Rajagopalan D, Datta J, Dunson DB, Dave SS. Genetic and Functional Drivers of Diffuse Large B Cell Lymphoma. Cell. 2017 Oct;171(2):481-494.e15.
LPP.md
... ...
@@ -1,4 +1,5 @@
1 1
# LPP
2
+
2 3
## History
3 4
4 5
```mermaid
... ...
@@ -7,6 +8,7 @@ timeline
7 8
title Publication timing
8 9
2018-10-01 : Arthur : DLBCL
9 10
```
11
+
10 12
## Relevance tier by entity
11 13
12 14
|Entity|Tier|Description |
... ...
@@ -44,20 +46,20 @@ timeline
44 46
|chr3 |188461880 |188474683|[intron-3](https://genome.ucsc.edu/s/rdmorin/GAMBL%20hg19?position=chr3%3A188461880%2D188474683)|NA |
45 47
|chr3 |188474684 |188491248|[intron-4](https://genome.ucsc.edu/s/rdmorin/GAMBL%20hg19?position=chr3%3A188474684%2D188491248)|NA |
46 48
47
-> [!NOTE]
48
-> First described in DLBCL in 2018 by [Arthur SE](https://pubmed.ncbi.nlm.nih.gov/30275490)
49 49
50 50
51 51
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/LPP_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/LPP_protein_hg38.html)
52 52
53
-![image](images/proteinpaint/LPP_NM_005578.svg)
53
+![](images/proteinpaint/LPP_NM_005578.svg)
54 54
55 55
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/LPP.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/LPP_hg38.html)
56 56
57
-![image](images/proteinpaint/LPP.svg)
57
+![](images/proteinpaint/LPP.svg)
58
+
58 59
## LPP Expression
59
-![image](images/gene_expression/LPP_by_pathology.svg)
60
+![](images/gene_expression/LPP_by_pathology.svg)
60 61
<!-- ORIGIN: arthurGenomewideDiscoverySomatic2018 -->
61 62
<!-- DLBCL: arthurGenomewideDiscoverySomatic2018 -->
63
+
62 64
## References
63 65
1. Arthur SE, Jiang A, Grande BM, Alcaide M, Cojocaru R, Rushton CK, Mottok A, Hilton LK, Lat PK, Zhao EY, Culibrk L, Ennishi D, Jessa S, Chong L, Thomas N, Pararajalingam P, Meissner B, Boyle M, Davidson J, Bushell KR, Lai D, Farinha P, Slack GW, Morin GB, Shah S, Sen D, Jones SJM, Mungall AJ, Gascoyne RD, Audas TE, Unrau P, Marra MA, Connors JM, Steidl C, Scott DW, Morin RD. Genome-wide discovery of somatic regulatory variants in diffuse large B-cell lymphoma. Nat Commun. 2018 Oct 1;9(1):4001. PMCID: PMC6167379
LRP12.md
... ...
@@ -1,4 +1,5 @@
1 1
# LRP12
2
+
2 3
## History
3 4
Mutations in this gene were first described in DLBCL in 2021 by Hübschmann et al.<sup>1</sup>
4 5
... ...
@@ -8,6 +9,7 @@ timeline
8 9
title Publication timing
9 10
2021-05-05 : H : DLBCL
10 11
```
12
+
11 13
## Relevance tier by entity
12 14
13 15
|Entity|Tier|Description |
... ...
@@ -32,19 +34,19 @@ timeline
32 34
|FL |No |No |1.384 |0.000 |
33 35
34 36
35
-> [!NOTE]
36
-> First described in DLBCL in 2021 by [Hübschmann D](https://pubmed.ncbi.nlm.nih.gov/33953289)
37 37
38 38
39 39
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/LRP12_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/LRP12_protein_hg38.html)
40 40
41
-![image](images/proteinpaint/LRP12_NM_013437.svg)
41
+![](images/proteinpaint/LRP12_NM_013437.svg)
42 42
43 43
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/LRP12.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/LRP12_hg38.html)
44 44
45
-![image](images/proteinpaint/LRP12.svg)
45
+![](images/proteinpaint/LRP12.svg)
46
+
46 47
## LRP12 Expression
47
-![image](images/gene_expression/LRP12_by_pathology.svg)
48
+![](images/gene_expression/LRP12_by_pathology.svg)
49
+
48 50
## References
49 51
1. Hübschmann D, Kleinheinz K, Wagener R, Bernhart SH, López C, Toprak UH, Sungalee S, Ishaque N, Kretzmer H, Kreuz M, Waszak SM, Paramasivam N, Ammerpohl O, Aukema SM, Beekman R, Bergmann AK, Bieg M, Binder H, Borkhardt A, Borst C, Brors B, Bruns P, Carrillo de Santa Pau E, Claviez A, Doose G, Haake A, Karsch D, Haas S, Hansmann ML, Hoell JI, Hovestadt V, Huang B, Hummel M, Jäger-Schmidt C, Kerssemakers JNA, Korbel JO, Kube D, Lawerenz C, Lenze D, Martens JHA, Ott G, Radlwimmer B, Reisinger E, Richter J, Rico D, Rosenstiel P, Rosenwald A, Schillhabel M, Stilgenbauer S, Stadler PF, Martín-Subero JI, Szczepanowski M, Warsow G, Weniger MA, Zapatka M, Valencia A, Stunnenberg HG, Lichter P, Möller P, Loeffler M, Eils R, Klapper W, Hoffmann S, Trümper L, ICGC MMML-Seq consortium, ICGC DE-Mining consortium, BLUEPRINT consortium, Küppers R, Schlesner M, Siebert R. Mutational mechanisms shaping the coding and noncoding genome of germinal center derived B-cell lymphomas. Leukemia. 2021 Jul;35(7):2002–2016. PMCID: PMC8257491
50 52
LRRN3.md
... ...
@@ -1,4 +1,5 @@
1 1
# LRRN3
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -7,6 +8,7 @@ timeline
7 8
2013-08-15 : Morin : DLBCL
8 9
2021-04-01 : Sarkozy : PMBL
9 10
```
11
+
10 12
## Relevance tier by entity
11 13
12 14
|Entity|Tier|Description |
... ...
@@ -32,22 +34,22 @@ timeline
32 34
|FL |No |No |0.000 |0 |
33 35
34 36
35
-> [!NOTE]
36
-> First described in DLBCL in 2013 by [Morin RD](https://pubmed.ncbi.nlm.nih.gov/23699601)
37 37
38 38
39 39
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/LRRN3_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/LRRN3_protein_hg38.html)
40 40
41
-![image](images/proteinpaint/LRRN3_NM_001099660.svg)
41
+![](images/proteinpaint/LRRN3_NM_001099660.svg)
42 42
43 43
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/LRRN3.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/LRRN3_hg38.html)
44 44
45
-![image](images/proteinpaint/LRRN3.svg)
45
+![](images/proteinpaint/LRRN3.svg)
46
+
46 47
## LRRN3 Expression
47
-![image](images/gene_expression/LRRN3_by_pathology.svg)
48
+![](images/gene_expression/LRRN3_by_pathology.svg)
48 49
<!-- ORIGIN: morinMutationalStructuralAnalysis2013 -->
49 50
<!-- DLBCL: morinMutationalStructuralAnalysis2013 -->
50 51
<!-- PMBL: sarkozyMutationalLandscapeGray2021a -->
52
+
51 53
## References
52 54
1. Morin RD, Mungall K, Pleasance E, Mungall AJ, Goya R, Huff RD, Scott DW, Ding J, Roth A, Chiu R, Corbett RD, Chan FC, Mendez-Lago M, Trinh DL, Bolger-Munro M, Taylor G, Hadj Khodabakhshi A, Ben-Neriah S, Pon J, Meissner B, Woolcock B, Farnoud N, Rogic S, Lim EL, Johnson NA, Shah S, Jones S, Steidl C, Holt R, Birol I, Moore R, Connors JM, Gascoyne RD, Marra MA. Mutational and structural analysis of diffuse large B-cell lymphoma using whole-genome sequencing. Blood. 2013 Aug 15;122(7):1256–1265. PMCID: PMC3744992
53 55
2. Sarkozy C, Hung SS, Chavez EA, Duns G, Takata K, Chong LC, Aoki T, Jiang A, Miyata-Takata T, Telenius A, Slack GW, Molina TJ, Ben-Neriah S, Farinha P, Dartigues P, Damotte D, Mottok A, Salles GA, Casasnovas RO, Savage KJ, Laurent C, Scott DW, Traverse-Glehen A, Steidl C. Mutational landscape of gray zone lymphoma. Blood. 2021 Apr 1;137(13):1765–1776. PMID: 32961552
LTB.md
... ...
@@ -1,4 +1,5 @@
1 1
# LTB
2
+
2 3
## Overview
3 4
LTB (Lymphotoxin Beta) is a member of the tumor necrosis factor (TNF) superfamily, which plays a role in the development and organization of secondary lymphoid tissues and in the regulation of immune responses. LTB is one of [a number of genes](https://github.com/morinlab/LLMPP/wiki/ashm) affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus. Although the mutation incidence is relatively high in DLBCL, little is known about the role of these mutations in lymphomagenesis. The mutation pattern overall implies a selective pressure to acquire loss-of-function mutations in LTB.
4 5
## History
... ...
@@ -9,6 +10,7 @@ timeline
9 10
2018-05-01 : Chapuy : DLBCL
10 11
2019-08-20 : Desch : PMBL
11 12
```
13
+
12 14
## Relevance tier by entity
13 15
14 16
|Entity|Tier|Description |
... ...
@@ -48,15 +50,15 @@ timeline
48 50
49 51
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/LTB_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/LTB_protein_hg38.html)
50 52
51
-![image](images/proteinpaint/LTB_NM_002341.svg)
53
+![](images/proteinpaint/LTB_NM_002341.svg)
52 54
53 55
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/LTB.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/LTB_hg38.html)
54 56
55
-![image](images/proteinpaint/LTB.svg)
57
+![](images/proteinpaint/LTB.svg)
56 58
57 59
## LTB Expression
58 60
59
-![image](images/gene_expression/LTB_by_pathology.svg)
61
+![](images/gene_expression/LTB_by_pathology.svg)
60 62
61 63
## References
62 64
<!-- ORIGIN: 29713087 -->
LYN.md
... ...
@@ -1,4 +1,5 @@
1 1
# LYN
2
+
2 3
## Overview
3 4
LYN mutations have been reported in DLBCL but the rate is relatively rare in most cohorts. The mutation pattern in DLBCL and FL implies the preferential accumulation of *inactivating mutations*. *Without further support, this gene may be migrated to Tier 2.*
4 5
## History
... ...
@@ -8,6 +9,7 @@ timeline
8 9
title Publication timing
9 10
2018-05-01 : Chapuy : DLBCL
10 11
```
12
+
11 13
## Relevance tier by entity
12 14
13 15
|Entity|Tier|Description |
... ...
@@ -35,16 +37,18 @@ timeline
35 37
36 38
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/LYN_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/LYN_protein_hg38.html)
37 39
38
-![image](images/proteinpaint/LYN_ENST00000519728.svg)
40
+![](images/proteinpaint/LYN_ENST00000519728.svg)
39 41
40 42
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/LYN.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/LYN_hg38.html)
41 43
42
-![image](images/proteinpaint/LYN.svg)
44
+![](images/proteinpaint/LYN.svg)
45
+
43 46
## LYN Expression
44
-![image](images/gene_expression/LYN_by_pathology.svg)
47
+![](images/gene_expression/LYN_by_pathology.svg)
45 48
46 49
<!-- FLAGGED FOR TIER 2 -->
47 50
<!-- ORIGIN: chapuyMolecularSubtypesDiffuse2018b -->
48 51
<!-- DLBCL: chapuyMolecularSubtypesDiffuse2018b -->
52
+
49 53
## References
50 54
1. Chapuy B, Stewart C, Dunford AJ, Kim J, Kamburov A, Redd RA, Lawrence MS, Roemer MGM, Li AJ, Ziepert M, Staiger AM, Wala JA, Ducar MD, Leshchiner I, Rheinbay E, Taylor-Weiner A, Coughlin CA, Hess JM, Pedamallu CS, Livitz D, Rosebrock D, Rosenberg M, Tracy AA, Horn H, van Hummelen P, Feldman AL, Link BK, Novak AJ, Cerhan JR, Habermann TM, Siebert R, Rosenwald A, Thorner AR, Meyerson ML, Golub TR, Beroukhim R, Wulf GG, Ott G, Rodig SJ, Monti S, Neuberg DS, Loeffler M, Pfreundschuh M, Trümper L, Getz G, Shipp MA. Molecular subtypes of diffuse large B cell lymphoma are associated with distinct pathogenic mechanisms and outcomes. Nat Med. 2018 May;24(5):679–690. PMCID: PMC6613387
MAGEC1.md
... ...
@@ -1,4 +1,5 @@
1 1
# MAGEC1
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -6,6 +7,7 @@ timeline
6 7
title Publication timing
7 8
2023-07-26 : Russler : FL
8 9
```
10
+
9 11
## Relevance tier by entity
10 12
11 13
|Entity|Tier|Description |
... ...
@@ -27,8 +29,6 @@ timeline
27 29
|FL |No |No | 0.000 |0.000 |
28 30
29 31
30
-> [!NOTE]
31
-> First described in FL in 2023 by [Kalmbach S](https://pubmed.ncbi.nlm.nih.gov/37563306)
32 32
33 33
34 34
## MAGEC1 Hotspots
... ...
@@ -42,14 +42,16 @@ timeline
42 42
43 43
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/MAGEC1_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/MAGEC1_protein_hg38.html)
44 44
45
-![image](images/proteinpaint/MAGEC1_NM_005462.svg)
45
+![](images/proteinpaint/MAGEC1_NM_005462.svg)
46 46
47 47
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/MAGEC1.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/MAGEC1_hg38.html)
48 48
49
-![image](images/proteinpaint/MAGEC1.svg)
49
+![](images/proteinpaint/MAGEC1.svg)
50
+
50 51
## MAGEC1 Expression
51
-![image](images/gene_expression/MAGEC1_by_pathology.svg)
52
+![](images/gene_expression/MAGEC1_by_pathology.svg)
52 53
<!-- ORIGIN: russler-germainMutationsAssociatedProgression2023a -->
53 54
<!-- FL: russler-germainMutationsAssociatedProgression2023b -->
55
+
54 56
## References
55 57
1. Russler-Germain DA, Krysiak K, Ramirez CA, Mosior M, Watkins MP, Gomez F, Skidmore ZL, Trani L, Gao F, Geyer S, Cashen A, Mehta-Shah N, Kahl B, Bartlett N, Alderuccio J, Lossos I, Ondrejka S, Hsi E, Martin P, Leonard J, Griffith M, Griffith O, Fehniger T. Mutations associated with progression in follicular lymphoma predict inferior outcomes at diagnosis: Alliance A151303. Blood Advances. 2023;7:5524–5539.
MAGT1.md
... ...
@@ -1,4 +1,5 @@
1 1
# MAGT1
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -6,6 +7,7 @@ timeline
6 7
title Publication timing
7 8
2017-10-10 : Reddy : DLBCL
8 9
```
10
+
9 11
## Relevance tier by entity
10 12
11 13
|Entity|Tier|Description |
... ...
@@ -30,20 +32,20 @@ timeline
30 32
|FL |No |No |0.000 | 0.000 |
31 33
32 34
33
-> [!NOTE]
34
-> First described in DLBCL in 2017 by [Reddy A](https://pubmed.ncbi.nlm.nih.gov/28985567)
35 35
36 36
37 37
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/MAGT1_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/MAGT1_protein_hg38.html)
38 38
39
-![image](images/proteinpaint/MAGT1_NM_032121.svg)
39
+![](images/proteinpaint/MAGT1_NM_032121.svg)
40 40
41 41
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/MAGT1.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/MAGT1_hg38.html)
42 42
43
-![image](images/proteinpaint/MAGT1.svg)
43
+![](images/proteinpaint/MAGT1.svg)
44
+
44 45
## MAGT1 Expression
45
-![image](images/gene_expression/MAGT1_by_pathology.svg)
46
+![](images/gene_expression/MAGT1_by_pathology.svg)
46 47
<!-- ORIGIN: reddyGeneticFunctionalDrivers2017 -->
47 48
<!-- DLBCL: reddyGeneticFunctionalDrivers2017 -->
49
+
48 50
## References
49 51
1. Reddy A, Zhang J, Davis NS, Moffitt AB, Love CL, Waldrop A, Leppa S, Pasanen A, Meriranta L, Karjalainen-Lindsberg ML, Nørgaard P, Pedersen M, Gang AO, Høgdall E, Heavican TB, Lone W, Iqbal J, Qin Q, Li G, Kim SY, Healy J, Richards KL, Fedoriw Y, Bernal-Mizrachi L, Koff JL, Staton AD, Flowers CR, Paltiel O, Goldschmidt N, Calaminici M, Clear A, Gribben J, Nguyen E, Czader MB, Ondrejka SL, Collie A, Hsi ED, Tse E, Au-Yeung RKH, Kwong YL, Srivastava G, Choi WWL, Evens AM, Pilichowska M, Sengar M, Reddy N, Li S, Chadburn A, Gordon LI, Jaffe ES, Levy S, Rempel R, Tzeng T, Happ LE, Dave T, Rajagopalan D, Datta J, Dunson DB, Dave SS. Genetic and Functional Drivers of Diffuse Large B Cell Lymphoma. Cell. 2017 Oct;171(2):481-494.e15.
MALAT1.md
... ...
@@ -1,4 +1,5 @@
1 1
# MALAT1
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -6,6 +7,7 @@ timeline
6 7
title Publication timing
7 8
2018-10-01 : Arthur : DLBCL
8 9
```
10
+
9 11
## Relevance tier by entity
10 12
11 13
|Entity|Tier|Description |
... ...
@@ -34,14 +36,16 @@ timeline
34 36
35 37
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/MALAT1_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/MALAT1_protein_hg38.html)
36 38
37
-![image](images/proteinpaint/MALAT1_NR_002819.svg)
39
+![](images/proteinpaint/MALAT1_NR_002819.svg)
38 40
39 41
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/MALAT1.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/MALAT1_hg38.html)
40 42
41
-![image](images/proteinpaint/MALAT1.svg)
43
+![](images/proteinpaint/MALAT1.svg)
44
+
42 45
## MALAT1 Expression
43
-![image](images/gene_expression/MALAT1_by_pathology.svg)
46
+![](images/gene_expression/MALAT1_by_pathology.svg)
44 47
<!-- ORIGIN: arthurGenomewideDiscoverySomatic2018 -->
45 48
<!-- DLBCL: arthurGenomewideDiscoverySomatic2018 -->
49
+
46 50
## References
47 51
1. Arthur SE, Jiang A, Grande BM, Alcaide M, Cojocaru R, Rushton CK, Mottok A, Hilton LK, Lat PK, Zhao EY, Culibrk L, Ennishi D, Jessa S, Chong L, Thomas N, Pararajalingam P, Meissner B, Boyle M, Davidson J, Bushell KR, Lai D, Farinha P, Slack GW, Morin GB, Shah S, Sen D, Jones SJM, Mungall AJ, Gascoyne RD, Audas TE, Unrau P, Marra MA, Connors JM, Steidl C, Scott DW, Morin RD. Genome-wide discovery of somatic regulatory variants in diffuse large B-cell lymphoma. Nat Commun. 2018 Oct 1;9(1):4001. PMCID: PMC6167379
MAP2K1.md
... ...
@@ -1,4 +1,5 @@
1 1
# MAP2K1
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -7,6 +8,7 @@ timeline
7 8
2015-03-01 : Shin : DLBCL
8 9
2016-08-25 : Louissaint : FL
9 10
```
11
+
10 12
## Relevance tier by entity
11 13
12 14
|Entity|Tier|Description |
... ...
@@ -33,8 +35,6 @@ timeline
33 35
|FL |No |No | 5.696 |0 |
34 36
35 37
36
-> [!NOTE]
37
-> First described in FL in 2016 by [Louissaint A Jr](https://pubmed.ncbi.nlm.nih.gov/27325104)
38 38
39 39
## MAP2K1 Hotspots
40 40
... ...
@@ -45,16 +45,18 @@ timeline
45 45
46 46
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/MAP2K1_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/MAP2K1_protein_hg38.html)
47 47
48
-![image](images/proteinpaint/MAP2K1_NM_002755.svg)
48
+![](images/proteinpaint/MAP2K1_NM_002755.svg)
49 49
50 50
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/MAP2K1.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/MAP2K1_hg38.html)
51 51
52
-![image](images/proteinpaint/MAP2K1.svg)
52
+![](images/proteinpaint/MAP2K1.svg)
53
+
53 54
## MAP2K1 Expression
54
-![image](images/gene_expression/MAP2K1_by_pathology.svg)
55
+![](images/gene_expression/MAP2K1_by_pathology.svg)
55 56
<!-- ORIGIN: shinBRAFV600EMAP2K12015 -->
56 57
<!-- DLBCL: shinBRAFV600EMAP2K12015 -->
57 58
<!-- FL: louissaintPediatrictypeNodalFollicular2016a -->
59
+
58 60
## References
59 61
1. Shin SY, Lee ST, Kim HJ, Ki CS, Jung CW, Kim JW, Kim SH. BRAF V600E and MAP2K1 mutations in hairy cell leukemia and splenic marginal zone lymphoma cases. Ann Lab Med. 2015 Mar;35(2):257–259. PMCID: PMC4330180
60 62
2. Louissaint A, Schafernak KT, Geyer JT, Kovach AE, Ghandi M, Gratzinger D, Roth CG, Paxton CN, Kim S, Namgyal C, Morin R, Morgan EA, Neuberg DS, South ST, Harris MH, Hasserjian RP, Hochberg EP, Garraway LA, Harris NL, Weinstock DM. Pediatric-type nodal follicular lymphoma: a biologically distinct lymphoma with frequent MAPK pathway mutations. Blood. 2016 Aug 25;128(8):1093–1100. PMCID: PMC5000844
MAP3K6.md
... ...
@@ -1,4 +1,5 @@
1 1
# MAP3K6
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -6,6 +7,7 @@ timeline
6 7
title Publication timing
7 8
2012-12-01 : Love : BL
8 9
```
10
+
9 11
## Relevance tier by entity
10 12
11 13
|Entity|Tier|Description |
... ...
@@ -29,20 +31,20 @@ timeline
29 31
|FL |No |No |1.344 |0 |
30 32
31 33
32
-> [!NOTE]
33
-> First described in BL in 2012 by [Love C](https://pubmed.ncbi.nlm.nih.gov/23143597)
34 34
35 35
36 36
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/MAP3K6_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/MAP3K6_protein_hg38.html)
37 37
38
-![image](images/proteinpaint/MAP3K6_NM_004672.svg)
38
+![](images/proteinpaint/MAP3K6_NM_004672.svg)
39 39
40 40
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/MAP3K6.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/MAP3K6_hg38.html)
41 41
42
-![image](images/proteinpaint/MAP3K6.svg)
42
+![](images/proteinpaint/MAP3K6.svg)
43
+
43 44
## MAP3K6 Expression
44
-![image](images/gene_expression/MAP3K6_by_pathology.svg)
45
+![](images/gene_expression/MAP3K6_by_pathology.svg)
45 46
<!-- ORIGIN: loveGeneticLandscapeMutations2012 -->
46 47
<!-- BL: loveGeneticLandscapeMutations2012 -->
48
+
47 49
## References
48 50
1. Love C, Sun Z, Jima D, Li G, Zhang J, Miles R, Richards KL, Dunphy CH, Choi WWL, Srivastava G, Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers CR, Naresh KN, Evens AM, Chadburn A, Gordon LI, Czader MB, Gill JI, Hsi ED, Greenough A, Moffitt AB, McKinney M, Banerjee A, Grubor V, Levy S, Dunson DB, Dave SS. The genetic landscape of mutations in Burkitt lymphoma. Nat Genet. 2012 Dec;44(12):1321–1325. PMCID: PMC3674561
MET.md
... ...
@@ -1,4 +1,5 @@
1 1
# MET
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -6,6 +7,7 @@ timeline
6 7
title Publication timing
7 8
2017-10-10 : Reddy : DLBCL
8 9
```
10
+
9 11
## Relevance tier by entity
10 12
11 13
|Entity|Tier|Description |
... ...
@@ -30,20 +32,20 @@ timeline
30 32
|FL |No |No |0.000 |0 |
31 33
32 34
33
-> [!NOTE]
34
-> First described in DLBCL in 2017 by [Reddy A](https://pubmed.ncbi.nlm.nih.gov/28985567)
35 35
36 36
37 37
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/MET_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/MET_protein_hg38.html)
38 38
39
-![image](images/proteinpaint/MET_NM_001127500.svg)
39
+![](images/proteinpaint/MET_NM_001127500.svg)
40 40
41 41
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/MET.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/MET_hg38.html)
42 42
43
-![image](images/proteinpaint/MET.svg)
43
+![](images/proteinpaint/MET.svg)
44
+
44 45
## MET Expression
45
-![image](images/gene_expression/MET_by_pathology.svg)
46
+![](images/gene_expression/MET_by_pathology.svg)
46 47
<!-- ORIGIN: reddyGeneticFunctionalDrivers2017 -->
47 48
<!-- DLBCL: reddyGeneticFunctionalDrivers2017 -->
49
+
48 50
## References
49 51
1. Reddy A, Zhang J, Davis NS, Moffitt AB, Love CL, Waldrop A, Leppa S, Pasanen A, Meriranta L, Karjalainen-Lindsberg ML, Nørgaard P, Pedersen M, Gang AO, Høgdall E, Heavican TB, Lone W, Iqbal J, Qin Q, Li G, Kim SY, Healy J, Richards KL, Fedoriw Y, Bernal-Mizrachi L, Koff JL, Staton AD, Flowers CR, Paltiel O, Goldschmidt N, Calaminici M, Clear A, Gribben J, Nguyen E, Czader MB, Ondrejka SL, Collie A, Hsi ED, Tse E, Au-Yeung RKH, Kwong YL, Srivastava G, Choi WWL, Evens AM, Pilichowska M, Sengar M, Reddy N, Li S, Chadburn A, Gordon LI, Jaffe ES, Levy S, Rempel R, Tzeng T, Happ LE, Dave T, Rajagopalan D, Datta J, Dunson DB, Dave SS. Genetic and Functional Drivers of Diffuse Large B Cell Lymphoma. Cell. 2017 Oct;171(2):481-494.e15.
MGA.md
... ...
@@ -1,4 +1,5 @@
1 1
# MGA
2
+
2 3
## Overview
3 4
MGA acts as a transcriptional repressor and interacts with MYC, a well-known oncogene. Mutations in MGA have been described in DLBCL.<sup>1</sup> One study suggested MGA mutations were more common in DLBCLs in patients of African ancestry.<sup>2</sup> The mutation pattern in MGA is consistent with a role as a tumour suppressor gene.
4 5
## History
... ...
@@ -9,6 +10,7 @@ timeline
9 10
2013-01-01 : Zhang : DLBCL
10 11
2017-07-27 : Jallades : MZL
11 12
```
13
+
12 14
## Relevance tier by entity
13 15
14 16
|Entity|Tier|Description |
... ...
@@ -35,14 +37,14 @@ timeline
35 37
36 38
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/MGA_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/MGA_protein_hg38.html)
37 39
38
-![image](images/proteinpaint/MGA_NM_001164273.svg)
40
+![](images/proteinpaint/MGA_NM_001164273.svg)
39 41
40 42
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/MGA.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/MGA_hg38.html)
41 43
42
-![image](images/proteinpaint/MGA.svg)
44
+![](images/proteinpaint/MGA.svg)
43 45
44 46
## MGA Expression
45
-![image](images/gene_expression/MGA_by_pathology.svg)
47
+![](images/gene_expression/MGA_by_pathology.svg)
46 48
47 49
## References
48 50
1. *Zhang J, Grubor V, Love CL, Banerjee A, Richards KL, Mieczkowski PA, Dunphy C, Choi W, Au WY, Srivastava G, Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers C, Naresh K, Evens A, Gordon LI, Czader M, Gill JI, Hsi ED, Liu Q, Fan A, Walsh K, Jima D, Smith LL, Johnson AJ, Byrd JC, Luftig MA, Ni T, Zhu J, Chadburn A, Levy S, Dunson D, Dave SS. Genetic heterogeneity of diffuse large B-cell lymphoma. Proc Natl Acad Sci U S A. 2013 Jan 22;110(4):1398-403. doi: 10.1073/pnas.1205299110. Epub 2013 Jan 4. PMID: 23292937; PMCID: PMC3557051.*
MGEA5.md
... ...
@@ -1,4 +1,5 @@
1 1
# MGEA5
2
+
2 3
## History
3 4
Mutations in this gene were first described in DLBCL and FL in 2021 by Hübschmann et al.<sup>1</sup>
4 5
... ...
@@ -8,6 +9,7 @@ timeline
8 9
title Publication timing
9 10
2021-05-05 : H : FL
10 11
```
12
+
11 13
## Relevance tier by entity
12 14
13 15
|Entity|Tier|Description |
... ...
@@ -31,13 +33,14 @@ timeline
31 33
32 34
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/MGEA5_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/MGEA5_protein_hg38.html)
33 35
34
-![image](images/proteinpaint/MGEA5_NM_012215.svg)
36
+![](images/proteinpaint/MGEA5_NM_012215.svg)
35 37
36 38
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/MGEA5.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/MGEA5_hg38.html)
37 39
38
-![image](images/proteinpaint/MGEA5.svg)
40
+![](images/proteinpaint/MGEA5.svg)
41
+
39 42
## MGEA5 Expression
40
-![image](images/gene_expression/MGEA5_by_pathology.svg)
43
+![](images/gene_expression/MGEA5_by_pathology.svg)
41 44
42 45
43 46
## References
MIR142.md
... ...
@@ -1,4 +1,5 @@
1 1
# MIR142
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -7,6 +8,7 @@ timeline
7 8
2012-10-1 : Kwanhian : DLBCL
8 9
2019-03-21 : Grande : BL
9 10
```
11
+
10 12
## Relevance tier by entity
11 13
12 14
|Entity|Tier|Description |
... ...
@@ -31,13 +33,12 @@ timeline
31 33
|
32 34
33 35
34
-> [!NOTE]
35
-> First described in BL in 2019 by [Grande BM](https://pubmed.ncbi.nlm.nih.gov/30617194). First described in DLBCL in 2012 by [Kwanhian W](https://pubmed.ncbi.nlm.nih.gov/23342264)
36 36
## MIR142 Expression
37
-![image](images/gene_expression/MIR142_by_pathology.svg)
37
+![](images/gene_expression/MIR142_by_pathology.svg)
38 38
<!-- ORIGIN: kwanhianMicroRNA142Mutated202012b -->
39 39
<!-- BL: grandeGenomewideDiscoverySomatic2019 -->
40 40
<!-- DLBCL: kwanhianMicroRNA142Mutated202012b -->
41
+
41 42
## References
42 43
1. Kwanhian W, Lenze D, Alles J, Motsch N, Barth S, Döll C, Imig J, Hummel M, Tinguely M, Trivedi P, Lulitanond V, Meister G, Renner C, Grässer FA. MicroRNA-142 is mutated in about 20% of diffuse large B-cell lymphoma. Cancer Med. 2012 Oct;1(2):141–155. PMCID: PMC3544448
43 44
2. Grande BM, Gerhard DS, Jiang A, Griner NB, Abramson JS, Alexander TB, Allen H, Ayers LW, Bethony JM, Bhatia K, Bowen J, Casper C, Choi JK, Culibrk L, Davidsen TM, Dyer MA, Gastier-Foster JM, Gesuwan P, Greiner TC, Gross TG, Hanf B, Harris NL, He Y, Irvin JD, Jaffe ES, Jones SJM, Kerchan P, Knoetze N, Leal FE, Lichtenberg TM, Ma Y, Martin JP, Martin MR, Mbulaiteye SM, Mullighan CG, Mungall AJ, Namirembe C, Novik K, Noy A, Ogwang MD, Omoding A, Orem J, Reynolds SJ, Rushton CK, Sandlund JT, Schmitz R, Taylor C, Wilson WH, Wright GW, Zhao EY, Marra MA, Morin RD, Staudt LM. Genome-wide discovery of somatic coding and noncoding mutations in pediatric endemic and sporadic Burkitt lymphoma. Blood. 2019 Mar 21;133(12):1313–1324.
MIR155HG.md
... ...
@@ -28,11 +28,14 @@
28 28
29 29
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/MIR155HG_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/MIR155HG_protein_hg38.html)
30 30
31
-![image](images/proteinpaint/MIR155HG_NR_001458.svg)
31
+![](images/proteinpaint/MIR155HG_NR_001458.svg)
32 32
33 33
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/MIR155HG.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/MIR155HG_hg38.html)
34 34
35
-![image](images/proteinpaint/MIR155HG.svg)
35
+![](images/proteinpaint/MIR155HG.svg)
36
+
36 37
## MIR155HG Expression
37
-![image](images/gene_expression/MIR155HG_by_pathology.svg)
38
+![](images/gene_expression/MIR155HG_by_pathology.svg)
38 39
<!-- ORIGIN: Unknown -->
40
+
41
+## References
MKI67.md
... ...
@@ -1,4 +1,5 @@
1 1
# MKI67
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -7,6 +8,7 @@ timeline
7 8
2012-10-04 : Schmitz : BL
8 9
2023-07-26 : Russler : FL
9 10
```
11
+
10 12
## Relevance tier by entity
11 13
12 14
|Entity|Tier|Description |
... ...
@@ -32,22 +34,22 @@ timeline
32 34
|FL |No |No |0.987 |0 |
33 35
34 36
35
-> [!NOTE]
36
-> First described in BL in 2022 by [Burkhardt B](https://pubmed.ncbi.nlm.nih.gov/35794096). First described in FL in 2023 by [Russler-Germain DA](https://pubmed.ncbi.nlm.nih.gov/37493986)
37 37
38 38
39 39
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/MKI67_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/MKI67_protein_hg38.html)
40 40
41
-![image](images/proteinpaint/MKI67_NM_002417.svg)
41
+![](images/proteinpaint/MKI67_NM_002417.svg)
42 42
43 43
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/MKI67.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/MKI67_hg38.html)
44 44
45
-![image](images/proteinpaint/MKI67.svg)
45
+![](images/proteinpaint/MKI67.svg)
46
+
46 47
## MKI67 Expression
47
-![image](images/gene_expression/MKI67_by_pathology.svg)
48
+![](images/gene_expression/MKI67_by_pathology.svg)
48 49
<!-- ORIGIN: schmitzBurkittLymphomaPathogenesis2012 -->
49 50
<!-- BL: schmitzBurkittLymphomaPathogenesis2012 -->
50 51
<!-- FL: russler-germainMutationsAssociatedProgression2023b -->
52
+
51 53
## References
52 54
1. Schmitz R, Young RM, Ceribelli M, Jhavar S, Xiao W, Zhang M, Wright G, Shaffer AL, Hodson DJ, Buras E, Liu X, Powell J, Yang Y, Xu W, Zhao H, Kohlhammer H, Rosenwald A, Kluin P, Müller-Hermelink HK, Ott G, Gascoyne RD, Connors JM, Rimsza LM, Campo E, Jaffe ES, Delabie J, Smeland EB, Ogwang MD, Reynolds SJ, Fisher RI, Braziel RM, Tubbs RR, Cook JR, Weisenburger DD, Chan WC, Pittaluga S, Wilson W, Waldmann TA, Rowe M, Mbulaiteye SM, Rickinson AB, Staudt LM. Burkitt lymphoma pathogenesis and therapeutic targets from structural and functional genomics. Nature. 2012 Oct 4;490(7418):116–120. PMCID: PMC3609867
53 55
2. Russler-Germain DA, Krysiak K, Ramirez CA, Mosior M, Watkins MP, Gomez F, Skidmore ZL, Trani L, Gao F, Geyer S, Cashen A, Mehta-Shah N, Kahl B, Bartlett N, Alderuccio J, Lossos I, Ondrejka S, Hsi E, Martin P, Leonard J, Griffith M, Griffith O, Fehniger T. Mutations associated with progression in follicular lymphoma predict inferior outcomes at diagnosis: Alliance A151303. Blood Advances. 2023;7:5524–5539.
MME.md
... ...
@@ -1,4 +1,5 @@
1 1
# MME
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -6,6 +7,7 @@ timeline
6 7
title Publication timing
7 8
2019-09-26 : Panea : BL
8 9
```
10
+
9 11
## Relevance tier by entity
10 12
11 13
|Entity|Tier|Description |
... ...
@@ -29,20 +31,20 @@ timeline
29 31
|FL |No |No |0.000 |0 |
30 32
31 33
32
-> [!NOTE]
33
-> First described in BL in 2019 by [Panea RI](https://pubmed.ncbi.nlm.nih.gov/31558468)
34 34
35 35
36 36
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/MME_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/MME_protein_hg38.html)
37 37
38
-![image](images/proteinpaint/MME_NM_000902.svg)
38
+![](images/proteinpaint/MME_NM_000902.svg)
39 39
40 40
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/MME.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/MME_hg38.html)
41 41
42
-![image](images/proteinpaint/MME.svg)
42
+![](images/proteinpaint/MME.svg)
43
+
43 44
## MME Expression
44
-![image](images/gene_expression/MME_by_pathology.svg)
45
+![](images/gene_expression/MME_by_pathology.svg)
45 46
<!-- ORIGIN: paneaWholeGenomeLandscape2019 -->
46 47
<!-- BL: paneaWholeGenomeLandscape2019 -->
48
+
47 49
## References
48 50
1. Panea R, Love C, Shingleton JR, Reddy A, Bailey J, Moormann A, Otieno J, Ong’echa J, Oduor C, Schroêder K, Masalu N, Chao N, Agajanian M, Major M, Fedoriw Y, Richards K, Rymkiewicz G, Miles R, Alobeid B, Bhagat G, Flowers C, Ondrejka S, Hsi E, Choi W, Au-Yeung R, Hartmann W, Lenz G, Meyerson H, Lin YY, Zhuang Y, Luftig M, Waldrop A, Dave T, Thakkar D, Sahay H, Li G, Palus B, Seshadri V, Kim S, Gascoyne R, Levy S, Mukhopadhyay M, Dunson D, Dave S. The whole genome landscape of Burkitt lymphoma subtypes. Blood. 2019;
MPDZ.md
... ...
@@ -1,4 +1,5 @@
1 1
# MPDZ
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -7,6 +8,7 @@ timeline
7 8
2013-08-15 : Morin : DLBCL
8 9
2015-02-12 : Reichel : PMBL
9 10
```
11
+
10 12
## Relevance tier by entity
11 13
12 14
|Entity|Tier|Description |
... ...
@@ -32,22 +34,22 @@ timeline
32 34
|FL |No |No |2.769 |0.000 |
33 35
34 36
35
-> [!NOTE]
36
-> First described in DLBCL in 2013 by [Morin RD](https://pubmed.ncbi.nlm.nih.gov/23699601)
37 37
38 38
39 39
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/MPDZ_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/MPDZ_protein_hg38.html)
40 40
41
-![image](images/proteinpaint/MPDZ_NM_003829.svg)
41
+![](images/proteinpaint/MPDZ_NM_003829.svg)
42 42
43 43
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/MPDZ.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/MPDZ_hg38.html)
44 44
45
-![image](images/proteinpaint/MPDZ.svg)
45
+![](images/proteinpaint/MPDZ.svg)
46
+
46 47
## MPDZ Expression
47
-![image](images/gene_expression/MPDZ_by_pathology.svg)
48
+![](images/gene_expression/MPDZ_by_pathology.svg)
48 49
<!-- ORIGIN: morinMutationalStructuralAnalysis2013 -->
49 50
<!-- DLBCL: morinMutationalStructuralAnalysis2013 -->
50 51
<!-- PMBL: reichelFlowSortingExome2015a -->
52
+
51 53
## References
52 54
1. Morin RD, Mungall K, Pleasance E, Mungall AJ, Goya R, Huff RD, Scott DW, Ding J, Roth A, Chiu R, Corbett RD, Chan FC, Mendez-Lago M, Trinh DL, Bolger-Munro M, Taylor G, Hadj Khodabakhshi A, Ben-Neriah S, Pon J, Meissner B, Woolcock B, Farnoud N, Rogic S, Lim EL, Johnson NA, Shah S, Jones S, Steidl C, Holt R, Birol I, Moore R, Connors JM, Gascoyne RD, Marra MA. Mutational and structural analysis of diffuse large B-cell lymphoma using whole-genome sequencing. Blood. 2013 Aug 15;122(7):1256–1265. PMCID: PMC3744992
53 55
2. Reichel J, Chadburn A, Rubinstein PG, Giulino-Roth L, Tam W, Liu Y, Gaiolla R, Eng K, Brody J, Inghirami G, Carlo-Stella C, Santoro A, Rahal D, Totonchy J, Elemento O, Cesarman E, Roshal M. Flow sorting and exome sequencing reveal the oncogenome of primary Hodgkin and Reed-Sternberg cells. Blood. 2015 Feb 12;125(7):1061–1072. PMID: 25488972
MPEG1.md
... ...
@@ -1,4 +1,5 @@
1 1
# MPEG1
2
+
2 3
## Overview
3 4
Mutations in MPEG1 have been described in DLBCL<sup>1</sup> with the overall rate of mutations somewhat variable across studies. MPEG1 is one of [a number of genes](https://github.com/morinlab/LLMPP/wiki/ashm) affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus. Coding and non-coding MPEG1 mutations are a feature of the MCD genetic subgroup of DLBCL.
4 5
## History
... ...
@@ -8,6 +9,7 @@ timeline
8 9
title Publication timing
9 10
2013-08-15 : Morin : DLBCL
10 11
```
12
+
11 13
## Relevance tier by entity
12 14
13 15
|Entity|Tier|Description |
... ...
@@ -37,9 +39,10 @@ View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAM
37 39
38 40
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/MPEG1.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/MPEG1_hg38.html)
39 41
40
-![image](images/proteinpaint/MPEG1.svg)
42
+![](images/proteinpaint/MPEG1.svg)
43
+
41 44
## MPEG1 Expression
42
-![image](images/gene_expression/MPEG1_by_pathology.svg)
45
+![](images/gene_expression/MPEG1_by_pathology.svg)
43 46
44 47
## References
45 48
1. *Morin RD, Mungall K, Pleasance E, Mungall AJ, Goya R, Huff RD, Scott DW, Ding J, Roth A, Chiu R, Corbett RD, Chan FC, Mendez-Lago M, Trinh DL, Bolger-Munro M, Taylor G, Hadj Khodabakhshi A, Ben-Neriah S, Pon J, Meissner B, Woolcock B, Farnoud N, Rogic S, Lim EL, Johnson NA, Shah S, Jones S, Steidl C, Holt R, Birol I, Moore R, Connors JM, Gascoyne RD, Marra MA. Mutational and structural analysis of diffuse large B-cell lymphoma using whole-genome sequencing. Blood. 2013 Aug 15;122(7):1256-65. doi: 10.1182/blood-2013-02-483727. Epub 2013 May 22. PMID: 23699601; PMCID: PMC3744992.*
MRGPRF.md
... ...
@@ -1,4 +1,5 @@
1 1
# MRGPRF
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -6,6 +7,7 @@ timeline
6 7
title Publication timing
7 8
2014-05-08 : Zhang : MCL
8 9
```
10
+
9 11
## Relevance tier by entity
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11 13
|Entity|Tier|Description |
... ...
@@ -27,20 +29,20 @@ timeline
27 29
|FL |No |No |0.000 | 0.000 |
28 30
29 31
30
-> [!NOTE]
31
-> First described in MCL in 2014 by [Zhang J](https://pubmed.ncbi.nlm.nih.gov/24682267)
32 32
33 33
34 34
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/MRGPRF_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/MRGPRF_protein_hg38.html)
35 35
36
-![image](images/proteinpaint/MRGPRF_NM_001098515.svg)
36
+![](images/proteinpaint/MRGPRF_NM_001098515.svg)
37 37
38 38
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/MRGPRF.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/MRGPRF_hg38.html)
39 39
40
-![image](images/proteinpaint/MRGPRF.svg)
40
+![](images/proteinpaint/MRGPRF.svg)
41
+
41 42
## MRGPRF Expression
42
-![image](images/gene_expression/MRGPRF_by_pathology.svg)
43
+![](images/gene_expression/MRGPRF_by_pathology.svg)
43 44
<!-- ORIGIN: zhangGenomicLandscapeMantle2014 -->
44 45
<!-- MCL: zhangGenomicLandscapeMantle2014 -->
46
+
45 47
## References
46 48
1. Zhang J, Jima D, Moffitt AB, Liu Q, Czader M, Hsi ED, Fedoriw Y, Dunphy CH, Richards KL, Gill JI, Sun Z, Love C, Scotland P, Lock E, Levy S, Hsu DS, Dunson D, Dave SS. The genomic landscape of mantle cell lymphoma is related to the epigenetically determined chromatin state of normal B cells. Blood. 2014 May 8;123(19):2988–2996.
MS4A1.md
... ...
@@ -1,4 +1,5 @@
1 1
# MS4A1
2
+
2 3
## Overview
3 4
MS4A1 encodes the CD20 protein, which is the target of rituximab and other therapeutic monoclonal antibodies. MS4A1 is one of [a number of genes](https://github.com/morinlab/LLMPP/wiki/ashm) affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus. In relapsed DLBCLs, MS4A1 is sometimes mutated and these mutations have been shown to reduce CD20 expression.<sup>1</sup>
4 5
## History
... ...
@@ -9,6 +10,7 @@ timeline
9 10
2019-09-05 : Mottok : PMBL
10 11
2020-07-14 : Rushton : DLBCL
11 12
```
13
+
12 14
## Relevance tier by entity
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14 16
|Entity|Tier|Description |
... ...
@@ -44,9 +46,11 @@ View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAM
44 46
45 47
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/MS4A1.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/MS4A1_hg38.html)
46 48
47
-![image](images/proteinpaint/MS4A1.svg)
49
+![](images/proteinpaint/MS4A1.svg)
50
+
48 51
## MS4A1 Expression
49
-![image](images/gene_expression/MS4A1_by_pathology.svg)
52
+![](images/gene_expression/MS4A1_by_pathology.svg)
53
+
50 54
## References
51 55
<!-- ORIGIN: mottokIntegrativeGenomicAnalysis2019b -->
52 56
<!-- DLBCL: rushtonGeneticEvolutionaryPatterns2020 -->
MSH2.md
... ...
@@ -1,4 +1,5 @@
1 1
# MSH2
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -6,6 +7,7 @@ timeline
6 7
title Publication timing
7 8
2017-10-10 : Reddy : DLBCL
8 9
```
10
+
9 11
## Relevance tier by entity
10 12
11 13
|Entity|Tier|Description |
... ...
@@ -30,20 +32,20 @@ timeline
30 32
|FL |No |No |3.261 |0 |
31 33
32 34
33
-> [!NOTE]
34
-> First described in DLBCL in 2017 by [Reddy A](https://pubmed.ncbi.nlm.nih.gov/28985567)
35 35
36 36
37 37
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/MSH2_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/MSH2_protein_hg38.html)
38 38
39
-![image](images/proteinpaint/MSH2_NM_000251.svg)
39
+![](images/proteinpaint/MSH2_NM_000251.svg)
40 40
41 41
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/MSH2.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/MSH2_hg38.html)
42 42
43
-![image](images/proteinpaint/MSH2.svg)
43
+![](images/proteinpaint/MSH2.svg)
44
+
44 45
## MSH2 Expression
45
-![image](images/gene_expression/MSH2_by_pathology.svg)
46
+![](images/gene_expression/MSH2_by_pathology.svg)
46 47
<!-- ORIGIN: reddyGeneticFunctionalDrivers2017 -->
47 48
<!-- DLBCL: reddyGeneticFunctionalDrivers2017 -->
49
+
48 50
## References
49 51
1. Reddy A, Zhang J, Davis NS, Moffitt AB, Love CL, Waldrop A, Leppa S, Pasanen A, Meriranta L, Karjalainen-Lindsberg ML, Nørgaard P, Pedersen M, Gang AO, Høgdall E, Heavican TB, Lone W, Iqbal J, Qin Q, Li G, Kim SY, Healy J, Richards KL, Fedoriw Y, Bernal-Mizrachi L, Koff JL, Staton AD, Flowers CR, Paltiel O, Goldschmidt N, Calaminici M, Clear A, Gribben J, Nguyen E, Czader MB, Ondrejka SL, Collie A, Hsi ED, Tse E, Au-Yeung RKH, Kwong YL, Srivastava G, Choi WWL, Evens AM, Pilichowska M, Sengar M, Reddy N, Li S, Chadburn A, Gordon LI, Jaffe ES, Levy S, Rempel R, Tzeng T, Happ LE, Dave T, Rajagopalan D, Datta J, Dunson DB, Dave SS. Genetic and Functional Drivers of Diffuse Large B Cell Lymphoma. Cell. 2017 Oct;171(2):481-494.e15.
MSH6.md
... ...
@@ -1,4 +1,5 @@
1 1
# MSH6
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -6,6 +7,7 @@ timeline
6 7
title Publication timing
7 8
2017-10-10 : Reddy : DLBCL
8 9
```
10
+
9 11
## Relevance tier by entity
10 12
11 13
|Entity|Tier|Description |
... ...
@@ -30,20 +32,20 @@ timeline
30 32
|FL |No |No |0.000 |0 |
31 33
32 34
33
-> [!NOTE]
34
-> First described in DLBCL in 2017 by [Reddy A](https://pubmed.ncbi.nlm.nih.gov/28985567)
35 35
36 36
37 37
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/MSH6_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/MSH6_protein_hg38.html)
38 38
39
-![image](images/proteinpaint/MSH6_NM_000179.svg)
39
+![](images/proteinpaint/MSH6_NM_000179.svg)
40 40
41 41
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/MSH6.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/MSH6_hg38.html)
42 42
43
-![image](images/proteinpaint/MSH6.svg)
43
+![](images/proteinpaint/MSH6.svg)
44
+
44 45
## MSH6 Expression
45
-![image](images/gene_expression/MSH6_by_pathology.svg)
46
+![](images/gene_expression/MSH6_by_pathology.svg)
46 47
<!-- ORIGIN: reddyGeneticFunctionalDrivers2017 -->
47 48
<!-- DLBCL: reddyGeneticFunctionalDrivers2017 -->
49
+
48 50
## References
49 51
1. Reddy A, Zhang J, Davis NS, Moffitt AB, Love CL, Waldrop A, Leppa S, Pasanen A, Meriranta L, Karjalainen-Lindsberg ML, Nørgaard P, Pedersen M, Gang AO, Høgdall E, Heavican TB, Lone W, Iqbal J, Qin Q, Li G, Kim SY, Healy J, Richards KL, Fedoriw Y, Bernal-Mizrachi L, Koff JL, Staton AD, Flowers CR, Paltiel O, Goldschmidt N, Calaminici M, Clear A, Gribben J, Nguyen E, Czader MB, Ondrejka SL, Collie A, Hsi ED, Tse E, Au-Yeung RKH, Kwong YL, Srivastava G, Choi WWL, Evens AM, Pilichowska M, Sengar M, Reddy N, Li S, Chadburn A, Gordon LI, Jaffe ES, Levy S, Rempel R, Tzeng T, Happ LE, Dave T, Rajagopalan D, Datta J, Dunson DB, Dave SS. Genetic and Functional Drivers of Diffuse Large B Cell Lymphoma. Cell. 2017 Oct;171(2):481-494.e15.
MTOR.md
... ...
@@ -1,4 +1,5 @@
1 1
# MTOR
2
+
2 3
## Overview
3 4
Although mutations in MTOR have been reported in DLBCL<sup>1</sup> and some BL, their role in lymphomagenesis has not been thoroughly studied.
4 5
## History
... ...
@@ -9,6 +10,7 @@ timeline
9 10
2013-01-01 : Zhang : DLBCL
10 11
2019-09-26 : Panea : BL
11 12
```
13
+
12 14
## Relevance tier by entity
13 15
14 16
|Entity|Tier|Description |
... ...
@@ -37,8 +39,6 @@ timeline
37 39
|FL |No |No |1.429 |0 |
38 40
39 41
40
-> [!NOTE]
41
-> First described in BL in 2019 by [Panea RI](https://pubmed.ncbi.nlm.nih.gov/31558468). First described in DLBCL in 2013 by [Zhang J](https://pubmed.ncbi.nlm.nih.gov/23292937)
42 42
43 43
44 44
## MTOR Hotspots
... ...
@@ -49,14 +49,14 @@ timeline
49 49
50 50
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/MTOR_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/MTOR_protein_hg38.html)
51 51
52
-![image](images/proteinpaint/MTOR_NM_004958.svg)
52
+![](images/proteinpaint/MTOR_NM_004958.svg)
53 53
54 54
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/MTOR.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/MTOR_hg38.html)
55 55
56
-![image](images/proteinpaint/MTOR.svg)
56
+![](images/proteinpaint/MTOR.svg)
57 57
58 58
## MTOR Expression
59
-![image](images/gene_expression/MTOR_by_pathology.svg)
59
+![](images/gene_expression/MTOR_by_pathology.svg)
60 60
61 61
## References
62 62
MYB.md
... ...
@@ -1,4 +1,5 @@
1 1
# MYB
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -7,6 +8,7 @@ timeline
7 8
2017-10-10 : Reddy : DLBCL
8 9
2019-08-20 : Desch : PMBL
9 10
```
11
+
10 12
## Relevance tier by entity
11 13
12 14
|Entity|Tier|Description |
... ...
@@ -32,22 +34,22 @@ timeline
32 34
|FL |No |No |2.377 |0 |
33 35
34 36
35
-> [!NOTE]
36
-> First described in DLBCL in 2017 by [Reddy A](https://pubmed.ncbi.nlm.nih.gov/28985567)
37 37
38 38
39 39
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/MYB_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/MYB_protein_hg38.html)
40 40
41
-![image](images/proteinpaint/MYB_NM_001130173.svg)
41
+![](images/proteinpaint/MYB_NM_001130173.svg)
42 42
43 43
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/MYB.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/MYB_hg38.html)
44 44
45
-![image](images/proteinpaint/MYB.svg)
45
+![](images/proteinpaint/MYB.svg)
46
+
46 47
## MYB Expression
47
-![image](images/gene_expression/MYB_by_pathology.svg)
48
+![](images/gene_expression/MYB_by_pathology.svg)
48 49
<!-- ORIGIN: reddyGeneticFunctionalDrivers2017 -->
49 50
<!-- DLBCL: reddyGeneticFunctionalDrivers2017 -->
50 51
<!-- PMBL: deschGenotypingCirculatingTumor2020 -->
52
+
51 53
## References
52 54
1. Reddy A, Zhang J, Davis NS, Moffitt AB, Love CL, Waldrop A, Leppa S, Pasanen A, Meriranta L, Karjalainen-Lindsberg ML, Nørgaard P, Pedersen M, Gang AO, Høgdall E, Heavican TB, Lone W, Iqbal J, Qin Q, Li G, Kim SY, Healy J, Richards KL, Fedoriw Y, Bernal-Mizrachi L, Koff JL, Staton AD, Flowers CR, Paltiel O, Goldschmidt N, Calaminici M, Clear A, Gribben J, Nguyen E, Czader MB, Ondrejka SL, Collie A, Hsi ED, Tse E, Au-Yeung RKH, Kwong YL, Srivastava G, Choi WWL, Evens AM, Pilichowska M, Sengar M, Reddy N, Li S, Chadburn A, Gordon LI, Jaffe ES, Levy S, Rempel R, Tzeng T, Happ LE, Dave T, Rajagopalan D, Datta J, Dunson DB, Dave SS. Genetic and Functional Drivers of Diffuse Large B Cell Lymphoma. Cell. 2017 Oct;171(2):481-494.e15.
53 55
2. Desch AK, Hartung K, Botzen A, Brobeil A, Rummel M, Kurch L, Georgi T, Jox T, Bielack S, Burdach S, Classen CF, Claviez A, Debatin KM, Ebinger M, Eggert A, Faber J, Flotho C, Frühwald M, Graf N, Jorch N, Kontny U, Kramm C, Kulozik A, Kühr J, Sykora KW, Metzler M, Müller HL, Nathrath M, Nüßlein T, Paulussen M, Pekrun A, Reinhardt D, Reinhard H, Rössig C, Sauerbrey A, Schlegel PG, Schneider DT, Scheurlen W, Schweigerer L, Simon T, Suttorp M, Vorwerk P, Schmitz R, Kluge R, Mauz-Körholz C, Körholz D, Gattenlöhner S, Bräuninger A. Genotyping circulating tumor DNA of pediatric Hodgkin lymphoma. Leukemia. 2020 Jan;34(1):151–166. PMID: 31431735
MYBPC2.md
... ...
@@ -1,4 +1,5 @@
1 1
# MYBPC2
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -6,6 +7,7 @@ timeline
6 7
title Publication timing
7 8
2018-04-12 : Schmitz : DLBCL
8 9
```
10
+
9 11
## Relevance tier by entity
10 12
11 13
|Entity|Tier|Description |
... ...
@@ -30,20 +32,20 @@ timeline
30 32
|FL |No |No |4.460 |0.000 |
31 33
32 34
33
-> [!NOTE]
34
-> First described in DLBCL in 2018 by [Schmitz R](https://pubmed.ncbi.nlm.nih.gov/29641966)
35 35
36 36
37 37
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/MYBPC2_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/MYBPC2_protein_hg38.html)
38 38
39
-![image](images/proteinpaint/MYBPC2_NM_004533.svg)
39
+![](images/proteinpaint/MYBPC2_NM_004533.svg)
40 40
41 41
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/MYBPC2.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/MYBPC2_hg38.html)
42 42
43
-![image](images/proteinpaint/MYBPC2.svg)
43
+![](images/proteinpaint/MYBPC2.svg)
44
+
44 45
## MYBPC2 Expression
45
-![image](images/gene_expression/MYBPC2_by_pathology.svg)
46
+![](images/gene_expression/MYBPC2_by_pathology.svg)
46 47
<!-- ORIGIN: schmitzGeneticsPathogenesisDiffuse2018a -->
47 48
<!-- DLBCL: schmitzGeneticsPathogenesisDiffuse2018a -->
49
+
48 50
## References
49 51
1. Schmitz R, Wright GW, Huang DW, Johnson CA, Phelan JD, Wang JQ, Roulland S, Kasbekar M, Young RM, Shaffer AL, Hodson DJ, Xiao W, Yu X, Yang Y, Zhao H, Xu W, Liu X, Zhou B, Du W, Chan WC, Jaffe ES, Gascoyne RD, Connors JM, Campo E, Lopez-Guillermo A, Rosenwald A, Ott G, Delabie J, Rimsza LM, Tay Kuang Wei K, Zelenetz AD, Leonard JP, Bartlett NL, Tran B, Shetty J, Zhao Y, Soppet DR, Pittaluga S, Wilson WH, Staudt LM. Genetics and Pathogenesis of Diffuse Large B-Cell Lymphoma. N Engl J Med. 2018 Apr 12;378(15):1396–1407. PMCID: PMC6010183
MYC.md
... ...
@@ -1,4 +1,5 @@
1 1
# MYC
2
+
2 3
## Overview
3 4
MYC is one of [a number of genes](https://github.com/morinlab/LLMPP/wiki/ashm) affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus.
4 5
... ...
@@ -12,6 +13,7 @@ timeline
12 13
2017-07-27 : Jallades : MZL
13 14
2021-07-15 : Duns : PMBL
14 15
```
16
+
15 17
## Relevance tier by entity
16 18
17 19
|Entity|Tier|Description |
... ...
@@ -86,15 +88,15 @@ timeline
86 88
87 89
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/MYC_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/MYC_protein_hg38.html)
88 90
89
-![image](images/proteinpaint/MYC_NM_002467.svg)
91
+![](images/proteinpaint/MYC_NM_002467.svg)
90 92
91 93
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/MYC.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/MYC_hg38.html)
92 94
93
-![image](images/proteinpaint/MYC.svg)
95
+![](images/proteinpaint/MYC.svg)
94 96
95 97
## MYC Expression
96 98
97
-![image](images/gene_expression/MYC_by_pathology.svg)
99
+![](images/gene_expression/MYC_by_pathology.svg)
98 100
99 101
## References
100 102
MYCBP2.md
... ...
@@ -9,6 +9,7 @@ timeline
9 9
title Publication timing
10 10
2021-05-05 : H : FL
11 11
```
12
+
12 13
## Relevance tier by entity
13 14
14 15
|Entity|Tier|Description |
... ...
@@ -32,13 +33,14 @@ timeline
32 33
33 34
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/MYCBP2_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/MYCBP2_protein_hg38.html)
34 35
35
-![image](images/proteinpaint/MYCBP2_NM_015057.svg)
36
+![](images/proteinpaint/MYCBP2_NM_015057.svg)
36 37
37 38
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/MYCBP2.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/MYCBP2_hg38.html)
38 39
39
-![image](images/proteinpaint/MYCBP2.svg)
40
+![](images/proteinpaint/MYCBP2.svg)
41
+
40 42
## MYCBP2 Expression
41
-![image](images/gene_expression/MYCBP2_by_pathology.svg)
43
+![](images/gene_expression/MYCBP2_by_pathology.svg)
42 44
43 45
44 46
## References
MYD88.md
... ...
@@ -1,4 +1,5 @@
1 1
# MYD88
2
+
2 3
## History
3 4
```mermaid
4 5
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
... ...
@@ -7,6 +8,7 @@ timeline
7 8
2011-02-03 : Ngo : DLBCL
8 9
2012-04-01 : Yan : MZL
9 10
```
11
+
10 12
## Relevance tier by entity
11 13
12 14
|Entity|Tier|Description |
... ...
@@ -37,8 +39,6 @@ timeline
37 39
|FL |No |No |17.159 |0 |
38 40
39 41
40
-> [!NOTE]
41
-> First described in DLBCL in 2011 by [Ngo VN](https://pubmed.ncbi.nlm.nih.gov/21179087)
42 42
43 43
## MYD88 Hotspots
44 44
... ...
@@ -48,16 +48,18 @@ timeline
48 48
49 49
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/MYD88_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/MYD88_protein_hg38.html)
50 50
51
-![image](images/proteinpaint/MYD88_NM_002468.svg)
51
+![](images/proteinpaint/MYD88_NM_002468.svg)
52 52
53 53
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/MYD88.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/MYD88_hg38.html)
54 54
55
-![image](images/proteinpaint/MYD88.svg)
55
+![](images/proteinpaint/MYD88.svg)
56
+
56 57
## MYD88 Expression
57
-![image](images/gene_expression/MYD88_by_pathology.svg)
58
+![](images/gene_expression/MYD88_by_pathology.svg)
58 59
<!-- ORIGIN: yanBCRTLRSignaling2012a -->
59 60
<!-- DLBCL: ngoOncogenicallyActiveMYD882011a -->
60 61
<!-- MZL: yanBCRTLRSignaling2012a -->
62
+
61 63
## References
62 64
1. Ngo VN, Young RM, Schmitz R, Jhavar S, Xiao W, Lim KH, Kohlhammer H, Xu W, Yang Y, Zhao H, Shaffer AL, Romesser P, Wright G, Powell J, Rosenwald A, Muller-Hermelink HK, Ott G, Gascoyne RD, Connors JM, Rimsza LM, Campo E, Jaffe ES, Delabie J, Smeland EB, Fisher RI, Braziel RM, Tubbs RR, Cook JR, Weisenburger DD, Chan WC, Staudt LM. Oncogenically active MYD88 mutations in human lymphoma. Nature. 2011 Feb 3;470(7332):115–119. PMCID: PMC5024568
63 65
2. Yan Q, Huang Y, Watkins AJ, Kocialkowski S, Zeng N, Hamoudi RA, Isaacson PG, de Leval L, Wotherspoon A, Du MQ. BCR and TLR signaling pathways are recurrently targeted by genetic changes in splenic marginal zone lymphomas. Haematologica. 2012 Apr;97(4):595–598. PMCID: PMC3347666