ABI3BP.md
... ...
@@ -1,10 +1,12 @@
1 1
# ABI3BP
2
+## History
3
+Mutations were first described in DLBCL in 2013 by Morin et al.<sup>1</sup> Subsequent exome and genome-wide studies of DLBCL did not reproduce this observation.
2 4
3 5
## Relevance tier by entity
4 6
5 7
|Entity|Tier|Description |
6 8
|:------:|:----:|-----------------------------------------|
7
-|DLBCL |2 |relevance in DLBCL not firmly established|
9
+|![DLBCL](images/icons/DLBCL_tier2.png) |2 |relevance in DLBCL not firmly established|
8 10
9 11
## Mutation incidence in large patient cohorts (GAMBL reanalysis)
10 12
... ...
@@ -23,11 +25,6 @@
23 25
|DLBCL |No |No |1.625 |0.000 |
24 26
|FL |No |No |2.009 |0.000 |
25 27
26
-
27
-> [!NOTE]
28
-> First described in DLBCL in 2013 by [Morin RD](https://pubmed.ncbi.nlm.nih.gov/23699601)
29
-
30
-
31 28
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/ABI3BP_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/ABI3BP_protein_hg38.html)
32 29
33 30
![image](images/proteinpaint/ABI3BP_NM_015429.svg)
... ...
@@ -37,4 +34,11 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/A
37 34
![image](images/proteinpaint/ABI3BP.svg)
38 35
## ABI3BP Expression
39 36
![image](images/gene_expression/ABI3BP_by_pathology.svg)
37
+
38
+## References
39
+
40
+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
41
+
42
+
40 43
<!-- ORIGIN: morinMutationalStructuralAnalysis2013 -->
44
+<!-- DLBCL: morinMutationalStructuralAnalysis2013 -->
ABL2.md
... ...
@@ -21,10 +21,6 @@
21 21
|FL |No |No |0.00 |0 |
22 22
23 23
24
-> [!NOTE]
25
-> First described in FL in 2023 by [Kalmbach S](https://pubmed.ncbi.nlm.nih.gov/37563306)
26
-
27
-
28 24
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/ABL2_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/ABL2_protein_hg38.html)
29 25
30 26
![image](images/proteinpaint/ABL2_NM_007314.svg)
... ...
@@ -34,4 +30,10 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/A
34 30
![image](images/proteinpaint/ABL2.svg)
35 31
## ABL2 Expression
36 32
![image](images/gene_expression/ABL2_by_pathology.svg)
33
+
34
+## References
35
+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.*
36
+
37
+
37 38
<!-- ORIGIN: russler-germainMutationsAssociatedProgression2023a -->
39
+<!-- FL: russler-germainMutationsAssociatedProgression2023a -->
ACAD9.md
... ...
@@ -23,9 +23,6 @@
23 23
|FL |No |No |5.352 |0 |
24 24
25 25
26
-> [!NOTE]
27
-> First described in BL in 2012 by [Love C](https://pubmed.ncbi.nlm.nih.gov/23143597)
28
-
29 26
30 27
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/ACAD9_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/ACAD9_protein_hg38.html)
31 28
... ...
@@ -36,4 +33,9 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/A
36 33
![image](images/proteinpaint/ACAD9.svg)
37 34
## ACAD9 Expression
38 35
![image](images/gene_expression/ACAD9_by_pathology.svg)
36
+
37
+## References
38
+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*
39
+
39 40
<!-- ORIGIN: loveGeneticLandscapeMutations2012 -->
41
+<!-- BL: loveGeneticLandscapeMutations2012 -->
ACE.md
... ...
@@ -37,3 +37,4 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/A
37 37
## ACE Expression
38 38
![image](images/gene_expression/ACE_by_pathology.svg)
39 39
<!-- ORIGIN: loveGeneticLandscapeMutations2012 -->
40
+<!-- BL: loveGeneticLandscapeMutations2012 -->
ACTB.md
... ...
@@ -67,3 +67,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/A
67 67
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.*
68 68
69 69
<!-- ORIGIN: lohrDiscoveryPrioritizationSomatic2012a -->
70
+<!-- PMBL: wienandGenomicAnalysesFlowsorted2019b -->
71
+<!-- DLBCL: lohrDiscoveryPrioritizationSomatic2012a -->
ACTG1.md
... ...
@@ -1,11 +1,15 @@
1 1
# ACTG1
2
+## Overview
3
+
4
+## History
5
+Mutations in this gene were first described in DLBCL and FL in 2021 by Hübschmann et al.<sup>1</sup>
2 6
3 7
## Relevance tier by entity
4 8
5 9
|Entity|Tier|Description |
6 10
|:------:|:----:|--------------------------------------|
7
-|DLBCL |1-a | aSHM target and high-confidence DLBCL gene |
8
-|FL |2-a | aSHM target; Although recurrent, the relevance of mutations in FL is tenuous |
11
+|![DLBCL](images/icons/DLBCL_tier1.png) |1-a | aSHM target and high-confidence DLBCL gene |
12
+|![DLBCL](images/icons/FL_tier2.png) |2-a | aSHM target; Although recurrent, the relevance of mutations in FL is tenuous |
9 13
10 14
## Mutation incidence in large patient cohorts (GAMBL reanalysis)
11 15
... ...
@@ -31,8 +35,6 @@
31 35
|:--------:|:----------:|:--------:|:---------------------------------------------------------------------------------------------:|:------------------:|
32 36
|chr17 |79478289 |79479959|[intron](https://genome.ucsc.edu/s/rdmorin/GAMBL%20hg19?position=chr17%3A79478289%2D79479959)|NA |
33 37
34
-> [!NOTE]
35
-> First described in DLBCL in 2021 by [Hübschmann D](https://pubmed.ncbi.nlm.nih.gov/33953289). First described in FL in 2021 by [Hübschmann D](https://pubmed.ncbi.nlm.nih.gov/33953289)
36 38
37 39
38 40
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/ACTG1_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/ACTG1_protein_hg38.html)
... ...
@@ -42,6 +44,17 @@ View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAM
42 44
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/ACTG1.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/ACTG1_hg38.html)
43 45
44 46
![image](images/proteinpaint/ACTG1.svg)
47
+
45 48
## ACTG1 Expression
46 49
![image](images/gene_expression/ACTG1_by_pathology.svg)
47
-<!-- ORIGIN: hubschmannMutationalMechanismsShaping2021b -->
50
+
51
+## References
52
+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
53
+
54
+
55
+
56
+<!-- ORIGIN: spinaGeneticsNodalMarginal2016b -->
57
+<!-- DLBCL: hubschmannMutationalMechanismsShaping2021b -->
58
+<!-- MZL: spinaGeneticsNodalMarginal2016b -->
59
+<!-- FL: hubschmannMutationalMechanismsShaping2021b -->
60
+<!-- PMBL: deschGenotypingCirculatingTumor2020 -->
ADAMTS1.md
... ...
@@ -1,5 +1,8 @@
1 1
# ADAMTS1
2 2
3
+## History
4
+Mutations in this gene were first described in DLBCL in 2021 by Hübschmann et al.<sup>1</sup>
5
+
3 6
## Relevance tier by entity
4 7
5 8
|Entity|Tier|Description |
... ...
@@ -35,6 +38,13 @@ View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAM
35 38
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/ADAMTS1.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/ADAMTS1_hg38.html)
36 39
37 40
![image](images/proteinpaint/ADAMTS1.svg)
41
+
38 42
## ADAMTS1 Expression
39 43
![image](images/gene_expression/ADAMTS1_by_pathology.svg)
44
+
45
+## References
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
47
+
40 48
<!-- ORIGIN: hubschmannMutationalMechanismsShaping2021b -->
49
+
50
+<!-- DLBCL: hubschmannMutationalMechanismsShaping2021b -->
ADAMTS5.md
... ...
@@ -37,3 +37,4 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/A
37 37
## ADAMTS5 Expression
38 38
![image](images/gene_expression/ADAMTS5_by_pathology.svg)
39 39
<!-- ORIGIN: burkhardtClinicalRelevanceMolecular2022b -->
40
+<!-- BL: burkhardtClinicalRelevanceMolecular2022b -->
ADNP.md
... ...
@@ -37,3 +37,4 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/A
37 37
## ADNP Expression
38 38
![image](images/gene_expression/ADNP_by_pathology.svg)
39 39
<!-- ORIGIN: burkhardtClinicalRelevanceMolecular2022b -->
40
+<!-- BL: burkhardtClinicalRelevanceMolecular2022b -->
AGO4.md
... ...
@@ -37,3 +37,4 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/A
37 37
## AGO4 Expression
38 38
![image](images/gene_expression/AGO4_by_pathology.svg)
39 39
<!-- ORIGIN: burkhardtClinicalRelevanceMolecular2022b -->
40
+<!-- BL: burkhardtClinicalRelevanceMolecular2022b -->
AICDA.md
... ...
@@ -43,3 +43,4 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/A
43 43
## AICDA Expression
44 44
![image](images/gene_expression/AICDA_by_pathology.svg)
45 45
<!-- ORIGIN: arthurGenomewideDiscoverySomatic2018 -->
46
+<!-- DLBCL: arthurGenomewideDiscoverySomatic2018 -->
ALPK2.md
... ...
@@ -43,3 +43,4 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/A
43 43
## ALPK2 Expression
44 44
![image](images/gene_expression/ALPK2_by_pathology.svg)
45 45
<!-- ORIGIN: paneaWholeGenomeLandscape2019 -->
46
+<!-- BL: paneaWholeGenomeLandscape2019 -->
ANK2.md
... ...
@@ -35,3 +35,4 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/A
35 35
## ANK2 Expression
36 36
![image](images/gene_expression/ANK2_by_pathology.svg)
37 37
<!-- ORIGIN: zhangGenomicLandscapeMantle2014 -->
38
+<!-- MCL: zhangGenomicLandscapeMantle2014 -->
ANKRD12.md
... ...
@@ -1,5 +1,8 @@
1 1
# ANKRD12
2 2
3
+## History
4
+Mutations in this gene were first described in DLBCL in 2021 by Hübschmann et al.<sup>1</sup>
5
+
3 6
## Relevance tier by entity
4 7
5 8
|Entity|Tier|Description |
... ...
@@ -23,11 +26,6 @@
23 26
|DLBCL |No |No |0.885 |4.832 |
24 27
|FL |No |No |0.000 |0.000 |
25 28
26
-
27
-> [!NOTE]
28
-> First described in DLBCL in 2021 by [Hübschmann D](https://pubmed.ncbi.nlm.nih.gov/33953289)
29
-
30
-
31 29
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/ANKRD12_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/ANKRD12_protein_hg38.html)
32 30
33 31
![image](images/proteinpaint/ANKRD12_NM_015208.svg)
... ...
@@ -35,6 +33,11 @@ View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAM
35 33
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/ANKRD12.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/ANKRD12_hg38.html)
36 34
37 35
![image](images/proteinpaint/ANKRD12.svg)
36
+
38 37
## ANKRD12 Expression
39 38
![image](images/gene_expression/ANKRD12_by_pathology.svg)
40 39
<!-- ORIGIN: hubschmannMutationalMechanismsShaping2021b -->
40
+
41
+## References
42
+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
+<!-- DLBCL: hubschmannMutationalMechanismsShaping2021b -->
ANKRD17.md
... ...
@@ -1,10 +1,12 @@
1 1
# ANKRD17
2
+## History
3
+Mutations in this gene were first described in DLBCL in 2017 by Reddy et al.<sup>1</sup> Subsequent exome and genome-wide studies of DLBCL did not reproduce this observation.
2 4
3 5
## Relevance tier by entity
4 6
5 7
|Entity|Tier|Description |
6 8
|:------:|:----:|-----------------------------------------|
7
-|DLBCL |2 |relevance in DLBCL not firmly established|
9
+|![DLBCL](images/icons/DLBCL_tier2.png) |2 |relevance in DLBCL not firmly established|
8 10
9 11
## Mutation incidence in large patient cohorts (GAMBL reanalysis)
10 12
... ...
@@ -24,10 +26,6 @@
24 26
|FL |No |No |0.000 |0.000 |
25 27
26 28
27
-> [!NOTE]
28
-> First described in DLBCL in 2017 by [Reddy A](https://pubmed.ncbi.nlm.nih.gov/28985567)
29
-
30
-
31 29
View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/ANKRD17_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/ANKRD17_protein_hg38.html)
32 30
33 31
![image](images/proteinpaint/ANKRD17_NM_032217.svg)
... ...
@@ -35,6 +33,13 @@ View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAM
35 33
View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/ANKRD17.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/ANKRD17_hg38.html)
36 34
37 35
![image](images/proteinpaint/ANKRD17.svg)
36
+
38 37
## ANKRD17 Expression
39 38
![image](images/gene_expression/ANKRD17_by_pathology.svg)
39
+
40
+## References
41
+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.*
42
+
43
+
40 44
<!-- ORIGIN: reddyGeneticFunctionalDrivers2017 -->
45
+<!-- DLBCL: reddyGeneticFunctionalDrivers2017 -->
ARHGEF1.md
... ...
@@ -36,4 +36,6 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/A
36 36
![image](images/proteinpaint/ARHGEF1.svg)
37 37
## ARHGEF1 Expression
38 38
![image](images/gene_expression/ARHGEF1_by_pathology.svg)
39
+
39 40
<!-- ORIGIN: muppidiLossSignalingGa132014b -->
41
+<!-- BL: muppidiLossSignalingGa132014b -->
ARID1A.md
... ...
@@ -46,3 +46,8 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/A
46 46
## ARID1A Expression
47 47
![image](images/gene_expression/ARID1A_by_pathology.svg)
48 48
<!-- ORIGIN: loveGeneticLandscapeMutations2012 -->
49
+<!-- MZL: rossiCodingGenomeSplenic2012c -->
50
+<!-- DLBCL: zhangGeneticHeterogeneityDiffuse2013 -->
51
+<!-- BL: loveGeneticLandscapeMutations2012 -->
52
+<!-- FL: krysiakRecurrentSomaticMutations2017b -->
53
+<!-- BL: loveGeneticLandscapeMutations2012 -->
ARID1B.md
... ...
@@ -1,11 +1,13 @@
1 1
# ARID1B
2
+## History
3
+Mutations in this gene were first described in DLBCL in 2017 by Reddy et al.<sup>1</sup>
2 4
3 5
## Relevance tier by entity
4 6
5 7
|Entity|Tier|Description |
6 8
|:------:|:----:|-----------------------------------------|
7
-|DLBCL |2 |relevance in DLBCL not firmly established|
8
-|MCL |2 |relevance in MCL not firmly established |
9
+|![DLBCL](images/icons/DLBCL_tier2.png) |2 |relevance in DLBCL not firmly established|
10
+|![MCL](images/icons/MCL_tier2.png) |2 |relevance in MCL not firmly established |
9 11
10 12
## Mutation incidence in large patient cohorts (GAMBL reanalysis)
11 13
... ...
@@ -26,10 +28,6 @@
26 28
|FL |No |No |0.747 |11.009 |
27 29
28 30
29
-> [!NOTE]
30
-> First described in DLBCL in 2017 by [Reddy A](https://pubmed.ncbi.nlm.nih.gov/28985567)
31
-
32
-
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View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/ARID1B_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/ARID1B_protein_hg38.html)
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![image](images/proteinpaint/ARID1B_NM_017519.svg)
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@@ -39,4 +37,9 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/A
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![image](images/proteinpaint/ARID1B.svg)
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## ARID1B Expression
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![image](images/gene_expression/ARID1B_by_pathology.svg)
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+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.*
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<!-- ORIGIN: reddyGeneticFunctionalDrivers2017 -->
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+<!-- DLBCL: reddyGeneticFunctionalDrivers2017 -->
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