7b1239e5710d57eb1364434e3d49f94298f66dab
DLC1.md
| ... | ... | @@ -1,4 +1,5 @@ |
| 1 | 1 | # DLC1 |
| 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 |1.697 |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/DLC1_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/DLC1_protein_hg38.html) |
| 35 | 35 | |
| 36 | - |
|
| 36 | + |
|
| 37 | 37 | |
| 38 | 38 | 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) |
| 39 | 39 | |
| 40 | - |
|
| 40 | + |
|
| 41 | + |
|
| 41 | 42 | ## DLC1 Expression |
| 42 | - |
|
| 43 | + |
|
| 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. |
DLGAP1.md
| ... | ... | @@ -1,4 +1,5 @@ |
| 1 | 1 | # DLGAP1 |
| 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 |0.682 |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/DLGAP1_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/DLGAP1_protein_hg38.html) |
| 37 | 37 | |
| 38 | - |
|
| 38 | + |
|
| 39 | 39 | |
| 40 | 40 | 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) |
| 41 | 41 | |
| 42 | - |
|
| 42 | + |
|
| 43 | + |
|
| 43 | 44 | ## DLGAP1 Expression |
| 44 | - |
|
| 45 | + |
|
| 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
| ... | ... | @@ -1,4 +1,5 @@ |
| 1 | 1 | # DNAH5 |
| 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 | 2017-07-27 : Jallades : MZL |
| 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 |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 | |
| 41 | - |
|
| 41 | + |
|
| 42 | 42 | |
| 43 | 43 | 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) |
| 44 | 44 | |
| 45 | - |
|
| 45 | + |
|
| 46 | + |
|
| 46 | 47 | ## DNAH5 Expression |
| 47 | - |
|
| 48 | + |
|
| 48 | 49 | <!-- ORIGIN: morinMutationalStructuralAnalysis2013 --> |
| 49 | 50 | <!-- DLBCL: morinMutationalStructuralAnalysis2013 --> |
| 50 | 51 | <!-- MZL: jalladesExomeSequencingIdentifies2017 --> |
| 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. 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
| ... | ... | @@ -1,4 +1,5 @@ |
| 1 | 1 | # DNM2 |
| 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 : DLBCL |
| 10 | 11 | ``` |
| 12 | + |
|
| 11 | 13 | ## Relevance tier by entity |
| 12 | 14 | |
| 13 | 15 | |Entity|Tier|Description | |
| ... | ... | @@ -40,13 +42,14 @@ timeline |
| 40 | 42 | |
| 41 | 43 | 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) |
| 42 | 44 | |
| 43 | - |
|
| 45 | + |
|
| 44 | 46 | |
| 45 | 47 | 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) |
| 46 | 48 | |
| 47 | - |
|
| 49 | + |
|
| 50 | + |
|
| 48 | 51 | ## DNM2 Expression |
| 49 | - |
|
| 52 | + |
|
| 50 | 53 | |
| 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
| ... | ... | @@ -1,4 +1,5 @@ |
| 1 | 1 | # DNMT1 |
| 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 | |
| ... | ... | @@ -30,20 +32,20 @@ timeline |
| 30 | 32 | |FL |No |No |2.053 |0.000 | |
| 31 | 33 | |
| 32 | 34 | |
| 33 | -> [!NOTE] |
|
| 34 | -> First described in BL in 2019 by [Panea RI](https://pubmed.ncbi.nlm.nih.gov/31558468) |
|
| 35 | 35 | |
| 36 | 36 | |
| 37 | 37 | 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) |
| 38 | 38 | |
| 39 | - |
|
| 39 | + |
|
| 40 | 40 | |
| 41 | 41 | 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) |
| 42 | 42 | |
| 43 | - |
|
| 43 | + |
|
| 44 | + |
|
| 44 | 45 | ## DNMT1 Expression |
| 45 | - |
|
| 46 | + |
|
| 46 | 47 | <!-- ORIGIN: paneaWholeGenomeLandscape2019 --> |
| 47 | 48 | <!-- BL: paneaWholeGenomeLandscape2019 --> |
| 49 | + |
|
| 48 | 50 | ## 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
| ... | ... | @@ -1,4 +1,5 @@ |
| 1 | 1 | # DNMT3A |
| 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 | |
| ... | ... | @@ -31,20 +33,20 @@ timeline |
| 31 | 33 | |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) |
|
| 36 | 36 | |
| 37 | 37 | |
| 38 | 38 | 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) |
| 39 | 39 | |
| 40 | - |
|
| 40 | + |
|
| 41 | 41 | |
| 42 | 42 | 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 | |
| 44 | - |
|
| 44 | + |
|
| 45 | + |
|
| 45 | 46 | ## DNMT3A Expression |
| 46 | - |
|
| 47 | + |
|
| 47 | 48 | <!-- ORIGIN: reddyGeneticFunctionalDrivers2017 --> |
| 48 | 49 | <!-- DLBCL: reddyGeneticFunctionalDrivers2017 --> |
| 50 | + |
|
| 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
| ... | ... | @@ -1,4 +1,5 @@ |
| 1 | 1 | # DOCK1 |
| 2 | + |
|
| 2 | 3 | ## History |
| 3 | 4 | |
| 4 | 5 | ```mermaid |
| ... | ... | @@ -7,6 +8,7 @@ timeline |
| 7 | 8 | title Publication timing |
| 8 | 9 | 2018-05-01 : Chapuy : DLBCL |
| 9 | 10 | ``` |
| 11 | + |
|
| 10 | 12 | ## Relevance tier by entity |
| 11 | 13 | |
| 12 | 14 | |Entity|Tier|Description | |
| ... | ... | @@ -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 | |
| 37 | 37 | |
| 38 | 38 | 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) |
| 39 | 39 | |
| 40 | - |
|
| 40 | + |
|
| 41 | 41 | |
| 42 | 42 | 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) |
| 43 | 43 | |
| 44 | - |
|
| 44 | + |
|
| 45 | + |
|
| 45 | 46 | ## DOCK1 Expression |
| 46 | - |
|
| 47 | + |
|
| 47 | 48 | <!-- ORIGIN: chapuyMolecularSubtypesDiffuse2018b --> |
| 48 | 49 | <!-- DLBCL: chapuyMolecularSubtypesDiffuse2018b --> |
| 50 | + |
|
| 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
| ... | ... | @@ -1,4 +1,5 @@ |
| 1 | 1 | # DSG4 |
| 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 | |
| ... | ... | @@ -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) |
| 39 | 39 | |
| 40 | - |
|
| 40 | + |
|
| 41 | 41 | |
| 42 | 42 | 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 | - |
|
| 44 | + |
|
| 45 | + |
|
| 45 | 46 | ## DSG4 Expression |
| 46 | - |
|
| 47 | + |
|
| 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
| ... | ... | @@ -1,4 +1,5 @@ |
| 1 | 1 | # DTX1 |
| 2 | + |
|
| 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 | + |
|
| 14 | 16 | ## Relevance tier by entity |
| 15 | 17 | |
| 16 | 18 | |Entity|Tier|Description | |
| ... | ... | @@ -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 | - |
|
| 105 | + |
|
| 106 | 106 | |
| 107 | 107 | 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 | - |
|
| 109 | + |
|
| 110 | 110 | |
| 111 | 111 | ## DTX1 Expression |
| 112 | - |
|
| 112 | + |
|
| 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
| ... | ... | @@ -1,4 +1,5 @@ |
| 1 | 1 | # DUSP2 |
| 2 | + |
|
| 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 | - |
|
| 66 | + |
|
| 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 | - |
|
| 70 | + |
|
| 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 | - |
|
| 77 | + |
|
| 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 | |
| ... | ... | @@ -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 | - |
|
| 39 | + |
|
| 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 | - |
|
| 43 | + |
|
| 44 | + |
|
| 44 | 45 | ## E2F2 Expression |
| 45 | - |
|
| 46 | + |
|
| 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 | - |
|
| 72 | + |
|
| 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 | - |
|
| 76 | + |
|
| 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 | - |
|
| 81 | + |
|
| 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 | - |
|
| 39 | + |
|
| 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 | - |
|
| 43 | + |
|
| 44 | + |
|
| 44 | 45 | ## EDNRB Expression |
| 45 | - |
|
| 46 | + |
|
| 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 | - |
|
| 60 | + |
|
| 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 | - |
|
| 64 | + |
|
| 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 | - |
|
| 70 | + |
|
| 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 | - |
|
| 29 | + |
|
| 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 | - |
|
| 33 | + |
|
| 34 | + |
|
| 34 | 35 | ## EHD1 Expression |
| 35 | - |
|
| 36 | + |
|
| 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 | - |
|
| 30 | + |
|
| 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 | - |
|
| 34 | + |
|
| 35 | + |
|
| 35 | 36 | ## EIF2AK3 Expression |
| 36 | - |
|
| 37 | + |
|
| 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 | - |
|
| 35 | + |
|
| 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 | - |
|
| 39 | + |
|
| 40 | + |
|
| 38 | 41 | ## EIF2AK4 Expression |
| 39 | - |
|
| 42 | + |
|
| 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 | - |
|
| 37 | + |
|
| 38 | + |
|
| 38 | 39 | ## EIF2C4 Expression |
| 39 | - |
|
| 40 | + |
|
| 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 | - |
|
| 37 | + |
|
| 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 | - |
|
| 41 | + |
|
| 42 | + |
|
| 40 | 43 | ## EIF4A1 Expression |
| 41 | - |
|
| 44 | + |
|
| 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
| ... | ... | @@ -1,4 +1,5 @@ |
| 1 | 1 | # EML2 |
| 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 | |
| ... | ... | @@ -30,20 +32,20 @@ timeline |
| 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 | |
| 37 | 37 | 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) |
| 38 | 38 | |
| 39 | - |
|
| 39 | + |
|
| 40 | 40 | |
| 41 | 41 | 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) |
| 42 | 42 | |
| 43 | - |
|
| 43 | + |
|
| 44 | + |
|
| 44 | 45 | ## EML2 Expression |
| 45 | - |
|
| 46 | + |
|
| 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
| ... | ... | @@ -1,4 +1,5 @@ |
| 1 | 1 | # ENTPD3 |
| 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 | |
| ... | ... | @@ -30,20 +32,20 @@ timeline |
| 30 | 32 | |FL |No |No |0.000 | 0.000 | |
| 31 | 33 | |
| 32 | 34 | |
| 33 | -> [!NOTE] |
|
| 34 | -> First described in BL in 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/ENTPD3_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/ENTPD3_protein_hg38.html) |
| 38 | 38 | |
| 39 | - |
|
| 39 | + |
|
| 40 | 40 | |
| 41 | 41 | 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 | - |
|
| 43 | + |
|
| 44 | + |
|
| 44 | 45 | ## ENTPD3 Expression |
| 45 | - |
|
| 46 | + |
|
| 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
| ... | ... | @@ -1,4 +1,5 @@ |
| 1 | 1 | # EP300 |
| 2 | + |
|
| 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 | |
| ... | ... | @@ -11,6 +12,7 @@ timeline |
| 11 | 12 | 2011-03-10 : Pasqualucci : FL |
| 12 | 13 | 2012-08-27 : Rossi : MZL |
| 13 | 14 | ``` |
| 15 | + |
|
| 14 | 16 | ## Relevance tier by entity |
| 15 | 17 | |
| 16 | 18 | |Entity|Tier|Description | |
| ... | ... | @@ -76,14 +78,14 @@ timeline |
| 76 | 78 | |
| 77 | 79 | 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 | |
| 79 | - |
|
| 81 | + |
|
| 80 | 82 | |
| 81 | 83 | 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) |
| 82 | 84 | |
| 83 | - |
|
| 85 | + |
|
| 84 | 86 | |
| 85 | 87 | ## EP300 Expression |
| 86 | - |
|
| 88 | + |
|
| 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
| ... | ... | @@ -1,4 +1,5 @@ |
| 1 | 1 | # EPHB2 |
| 2 | + |
|
| 2 | 3 | ## History |
| 3 | 4 | |
| 4 | 5 | |
| ... | ... | @@ -8,6 +9,7 @@ timeline |
| 8 | 9 | title Publication timing |
| 9 | 10 | 2012-12-01 : Love : BL |
| 10 | 11 | ``` |
| 12 | + |
|
| 11 | 13 | ## Relevance tier by entity |
| 12 | 14 | |
| 13 | 15 | |Entity|Tier|Description | |
| ... | ... | @@ -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 | - |
|
| 40 | + |
|
| 41 | 41 | |
| 42 | 42 | 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 | - |
|
| 44 | + |
|
| 45 | + |
|
| 45 | 46 | ## EPHB2 Expression |
| 46 | - |
|
| 47 | + |
|
| 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
| ... | ... | @@ -1,4 +1,5 @@ |
| 1 | 1 | # EPPK1 |
| 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 | |
| ... | ... | @@ -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) |
| 40 | 42 | |
| 41 | - |
|
| 43 | + |
|
| 42 | 44 | |
| 43 | 45 | 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) |
| 44 | 46 | |
| 45 | - |
|
| 47 | + |
|
| 48 | + |
|
| 46 | 49 | ## EPPK1 Expression |
| 47 | - |
|
| 50 | + |
|
| 48 | 51 | <!-- ORIGIN: paneaWholeGenomeLandscape2019 --> |
| 49 | 52 | <!-- BL: paneaWholeGenomeLandscape2019 --> |
| 53 | + |
|
| 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
| ... | ... | @@ -1,4 +1,5 @@ |
| 1 | 1 | # ERAP1 |
| 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 |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 | |
| 36 | 36 | |
| 37 | 37 | 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) |
| 38 | 38 | |
| 39 | - |
|
| 39 | + |
|
| 40 | 40 | |
| 41 | 41 | 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) |
| 42 | 42 | |
| 43 | - |
|
| 43 | + |
|
| 44 | + |
|
| 44 | 45 | ## ERAP1 Expression |
| 45 | - |
|
| 46 | + |
|
| 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 |
ESX1.md
| ... | ... | @@ -1,4 +1,5 @@ |
| 1 | 1 | # ESX1 |
| 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 | |
| ... | ... | @@ -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) |
|
| 33 | 33 | |
| 34 | 34 | |
| 35 | 35 | 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) |
| 36 | 36 | |
| 37 | - |
|
| 37 | + |
|
| 38 | 38 | |
| 39 | 39 | 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) |
| 40 | 40 | |
| 41 | - |
|
| 41 | + |
|
| 42 | + |
|
| 42 | 43 | ## ESX1 Expression |
| 43 | - |
|
| 44 | + |
|
| 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
| ... | ... | @@ -1,4 +1,5 @@ |
| 1 | 1 | # ETS1 |
| 2 | + |
|
| 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 |
| ... | ... | @@ -9,6 +10,7 @@ timeline |
| 9 | 10 | 2011-07-27 : Morin : DLBCL |
| 10 | 11 | 2019-09-26 : Panea : BL |
| 11 | 12 | ``` |
| 13 | + |
|
| 12 | 14 | ## Relevance tier by entity |
| 13 | 15 | |
| 14 | 16 | |Entity|Tier|Description | |
| ... | ... | @@ -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) |
| 72 | 74 | |
| 73 | - |
|
| 75 | + |
|
| 74 | 76 | |
| 75 | 77 | 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) |
| 76 | 78 | |
| 77 | - |
|
| 79 | + |
|
| 78 | 80 | |
| 79 | 81 | ## ETS1 Expression |
| 80 | - |
|
| 82 | + |
|
| 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
| ... | ... | @@ -1,4 +1,5 @@ |
| 1 | 1 | # ETV6 |
| 2 | + |
|
| 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 |
| 13 | 15 | |
| 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 | - |
|
| 55 | + |
|
| 54 | 56 | |
| 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 | - |
|
| 59 | + |
|
| 60 | + |
|
| 58 | 61 | ## ETV6 Expression |
| 59 | - |
|
| 62 | + |
|
| 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 |
| 10 | 11 | |
| 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 | - |
|
| 36 | + |
|
| 38 | 37 | |
| 39 | 38 | 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 | - |
|
| 40 | + |
|
| 41 | + |
|
| 42 | 42 | ## EWSR1 Expression |
| 43 | - |
|
| 43 | + |
|
| 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
| ... | ... | @@ -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 | - |
|
| 38 | + |
|
| 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 | - |
|
| 42 | + |
|
| 43 | + |
|
| 43 | 44 | ## EXOSC6 Expression |
| 44 | - |
|
| 45 | + |
|
| 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 | - |
|
| 45 | + |
|
| 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 | - |
|
| 49 | + |
|
| 50 | + |
|
| 48 | 51 | ## EZR Expression |
| 49 | - |
|
| 52 | + |
|
| 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 | - |
|
| 35 | + |
|
| 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 | - |
|
| 39 | + |
|
| 40 | + |
|
| 40 | 41 | ## FAM102A Expression |
| 41 | - |
|
| 42 | + |
|
| 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 | - |
|
| 41 | + |
|
| 42 | + |
|
| 42 | 43 | ## FAM129B Expression |
| 43 | - |
|
| 44 | + |
|
| 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 | - |
|
| 33 | + |
|
| 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 | - |
|
| 35 | + |
|
| 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 | - |
|
| 39 | + |
|
| 40 | + |
|
| 40 | 41 | ## FANK1 Expression |
| 41 | - |
|
| 42 | + |
|
| 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 | - |
|
| 47 | + |
|
| 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 | - |
|
| 51 | + |
|
| 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 | - |
|
| 61 | + |
|
| 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 | - |
|
| 45 | + |
|
| 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 | - |
|
| 49 | + |
|
| 50 | + |
|
| 50 | 51 | ## FAT4 Expression |
| 51 | - |
|
| 52 | + |
|
| 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 | - |
|
| 70 | + |
|
| 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 | - |
|
| 74 | + |
|
| 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 | - |
|
| 83 | + |
|
| 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 | - |
|
| 40 | + |
|
| 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 | - |
|
| 44 | + |
|
| 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 | - |
|
| 50 | + |
|
| 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 | - |
|
| 35 | + |
|
| 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 | - |
|
| 39 | + |
|
| 40 | + |
|
| 40 | 41 | ## FCRL3 Expression |
| 41 | - |
|
| 42 | + |
|
| 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 | - |
|
| 38 | + |
|
| 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 | - |
|
| 42 | + |
|
| 43 | + |
|
| 43 | 44 | ## FGFR3 Expression |
| 44 | - |
|
| 45 | + |
|
| 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 | - |
|
| 38 | + |
|
| 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 | - |
|
| 42 | + |
|
| 43 | + |
|
| 43 | 44 | ## FLYWCH1 Expression |
| 44 | - |
|
| 45 | + |
|
| 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 | - |
|
| 35 | + |
|
| 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 | - |
|
| 39 | + |
|
| 40 | + |
|
| 40 | 41 | ## FNBP1 Expression |
| 41 | - |
|
| 42 | + |
|
| 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 | - |
|
| 39 | + |
|
| 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 | - |
|
| 43 | + |
|
| 44 | + |
|
| 44 | 45 | ## FNDC1 Expression |
| 45 | - |
|
| 46 | + |
|
| 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 | - |
|
| 40 | + |
|
| 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 | - |
|
| 44 | + |
|
| 43 | 45 | |
| 44 | 46 | |
| 45 | 47 | ## FOXC1 Expression |
| 46 | - |
|
| 48 | + |
|
| 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 | - |
|
| 77 | + |
|
| 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 | - |
|
| 81 | + |
|
| 82 | 82 | |
| 83 | 83 | ## FOXO1 Expression |
| 84 | - |
|
| 84 | + |
|
| 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 | - |
| 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 | - |
|
| 54 | + |
|
| 55 | + |
|
| 53 | 56 | ## FOXP1 Expression |
| 54 | - |
|
| 57 | + |
|
| 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 | - |
|
| 38 | + |
|
| 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 | - |
|
| 42 | + |
|
| 43 | + |
|
| 43 | 44 | ## FTCD Expression |
| 44 | - |
|
| 45 | + |
|
| 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 | - |
|
| 45 | + |
|
| 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 | - |
|
| 49 | + |
|
| 50 | + |
|
| 50 | 51 | ## FUBP1 Expression |
| 51 | - |
|
| 52 | + |
|
| 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 | - |
|
| 39 | + |
|
| 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 | - |
|
| 43 | + |
|
| 44 | + |
|
| 44 | 45 | ## FUT5 Expression |
| 45 | - |
|
| 46 | + |
|
| 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 | - |
|
| 38 | + |
|
| 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 | - |
|
| 42 | + |
|
| 43 | + |
|
| 43 | 44 | ## FZD3 Expression |
| 44 | - |
|
| 45 | + |
|
| 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 | - |
|
| 35 | + |
|
| 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 | - |
|
| 39 | + |
|
| 38 | 40 | |
| 39 | 41 | ## FZR1 Expression |
| 40 | - |
|
| 42 | + |
|
| 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 | - |
|
| 39 | + |
|
| 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 | - |
|
| 43 | + |
|
| 44 | + |
|
| 44 | 45 | ## GABRA2 Expression |
| 45 | - |
|
| 46 | + |
|
| 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 | - |
|
| 38 | + |
|
| 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 | - |
|
| 42 | + |
|
| 43 | + |
|
| 42 | 44 | ## GAK Expression |
| 43 | - |
|
| 45 | + |
|
| 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 | - |
|
| 36 | + |
|
| 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 | - |
|
| 40 | + |
|
| 41 | + |
|
| 41 | 42 | ## GBP7 Expression |
| 42 | - |
|
| 43 | + |
|
| 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 | - |
|
| 37 | + |
|
| 38 | + |
|
| 38 | 39 | ## GGTLA4 Expression |
| 39 | - |
|
| 40 | + |
|
| 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 | - |
|
| 60 | + |
|
| 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 | - |
|
| 64 | + |
|
| 63 | 65 | |
| 64 | 66 | |
| 65 | 67 | ## GNA13 Expression |
| 66 | - |
|
| 68 | + |
|
| 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 | - |
|
| 65 | + |
|
| 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 | - |
|
| 69 | + |
|
| 68 | 70 | |
| 69 | 71 | ## GNAI2 Expression |
| 70 | - |
|
| 72 | + |
|
| 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 | - |
|
| 39 | + |
|
| 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 | - |
|
| 43 | + |
|
| 44 | + |
|
| 44 | 45 | ## GNAS Expression |
| 45 | - |
|
| 46 | + |
|
| 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 | - |
|
| 39 | + |
|
| 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 | - |
|
| 43 | + |
|
| 44 | + |
|
| 44 | 45 | ## GOLGA5 Expression |
| 45 | - |
|
| 46 | + |
|
| 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 | - |
|
| 39 | + |
|
| 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 | - |
|
| 43 | + |
|
| 44 | + |
|
| 44 | 45 | ## GPC5 Expression |
| 45 | - |
|
| 46 | + |
|
| 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 | - |
|
| 46 | + |
|
| 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 | - |
|
| 50 | + |
|
| 51 | + |
|
| 51 | 52 | ## GRB2 Expression |
| 52 | - |
|
| 53 | + |
|
| 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 | - |
|
| 47 | + |
|
| 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 | - |
|
| 51 | + |
|
| 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 | - |
|
| 56 | + |
|
| 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 | - |
|
| 38 | + |
|
| 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 | - |
|
| 42 | + |
|
| 43 | + |
|
| 43 | 44 | ## GRIK5 Expression |
| 44 | - |
|
| 45 | + |
|
| 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 | - |
|
| 36 | + |
|
| 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 | - |
|
| 40 | + |
|
| 41 | + |
|
| 41 | 42 | ## GRIN2A Expression |
| 42 | - |
|
| 43 | + |
|
| 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 | - |
|
| 36 | + |
|
| 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 | - |
|
| 40 | + |
|
| 41 | + |
|
| 41 | 42 | ## GRM6 Expression |
| 42 | - |
|
| 43 | + |
|
| 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 | - |
|
| 39 | + |
|
| 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 | - |
|
| 43 | + |
|
| 44 | + |
|
| 44 | 45 | ## GSG2 Expression |
| 45 | - |
|
| 46 | + |
|
| 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 | - |
|
| 38 | + |
|
| 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 | - |
|
| 42 | + |
|
| 43 | + |
|
| 43 | 44 | ## GTSE1 Expression |
| 44 | - |
|
| 45 | + |
|
| 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 | - |
|
| 39 | + |
|
| 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 | - |
|
| 43 | + |
|
| 44 | + |
|
| 44 | 45 | ## HDAC7 Expression |
| 45 | - |
|
| 46 | + |
|
| 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 | - |
|
| 36 | + |
|
| 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 | - |
|
| 40 | + |
|
| 41 | + |
|
| 41 | 42 | ## HEPH Expression |
| 42 | - |
|
| 43 | + |
|
| 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 | - |
|
| 49 | + |
|
| 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 | - |
|
| 53 | + |
|
| 54 | + |
|
| 52 | 55 | ## HIST1H1B Expression |
| 53 | - |
|
| 56 | + |
|
| 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 | - |
|
| 51 | + |
|
| 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 | - |
|
| 55 | + |
|
| 54 | 56 | |
| 55 | 57 | |
| 56 | 58 | ## HIST1H1C Expression |
| 57 | - |
|
| 59 | + |
|
| 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 | - |
|
| 51 | + |
|
| 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 | - |
|
| 55 | + |
|
| 56 | + |
|
| 56 | 57 | ## HIST1H1D Expression |
| 57 | - |
|
| 58 | + |
|
| 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 | - |
|
| 75 | + |
|
| 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 | - |
|
| 79 | + |
|
| 78 | 80 | |
| 79 | 81 | ## HIST1H1E Expression |
| 80 | - |
|
| 82 | + |
|
| 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 | - |
|
| 68 | + |
|
| 69 | + |
|
| 70 | 70 | ## HIST1H2AC Expression |
| 71 | - |
|
| 71 | + |
|
| 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 | - |
|
| 58 | + |
|
| 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 | - |
|
| 62 | + |
|
| 63 | + |
|
| 63 | 64 | ## HIST1H2AG Expression |
| 64 | - |
|
| 65 | + |
|
| 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 | - |
|
| 79 | + |
|
| 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 | - |
|
| 83 | + |
|
| 84 | + |
|
| 82 | 85 | ## HIST1H2AM Expression |
| 83 | - |
|
| 86 | + |
|
| 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 | - |
|
| 75 | + |
|
| 76 | + |
|
| 76 | 77 | ## HIST1H2BC Expression |
| 77 | - |
|
| 78 | + |
|
| 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 | - |
|
| 37 | + |
|
| 38 | + |
|
| 36 | 39 | ## HIST1H2BD Expression |
| 37 | - |
|
| 40 | + |
|
| 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 | - |
|
| 37 | + |
|
| 38 | + |
|
| 36 | 39 | ## HIST1H2BG Expression |
| 37 | - |
|
| 40 | + |
|
| 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 | - |
|
| 47 | + |
|
| 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 | - |
|
| 51 | + |
|
| 52 | + |
|
| 52 | 53 | ## HIST1H2BK Expression |
| 53 | - |
|
| 54 | + |
|
| 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 | - |
|
| 36 | + |
|
| 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 | - |
|
| 40 | + |
|
| 41 | + |
|
| 41 | 42 | ## HIST1H2BM Expression |
| 42 | - |
|
| 43 | + |
|
| 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 | - |
|
| 57 | + |
|
| 58 | + |
|
| 56 | 59 | ## HIST1H3B Expression |
| 57 | - |
|
| 60 | + |
|
| 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 | - |
|
| 46 | + |
|
| 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 | - |
|
| 50 | + |
|
| 51 | + |
|
| 51 | 52 | ## HIST1H3D Expression |
| 52 | - |
|
| 53 | + |
|
| 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 | - |
|
| 35 | + |
|
| 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 | - |
|
| 39 | + |
|
| 40 | + |
|
| 39 | 41 | ## HIST1H3G Expression |
| 40 | - |
|
| 42 | + |
|
| 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 | - |
|
| 38 | + |
|
| 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 | - |
|
| 42 | + |
|
| 43 | + |
|
| 43 | 44 | ## HIST1H3H Expression |
| 44 | - |
|
| 45 | + |
|
| 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 | - |
|
| 41 | + |
|
| 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 | - |
|
| 45 | + |
|
| 46 | + |
|
| 46 | 47 | ## HIST1H3I Expression |
| 47 | - |
|
| 48 | + |
|
| 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 | - |
|
| 46 | + |
|
| 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 | - |
|
| 50 | + |
|
| 51 | + |
|
| 51 | 52 | ## HIST1H3J Expression |
| 52 | - |
|
| 53 | + |
|
| 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 | - |
|
| 40 | + |
|
| 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 | - |
|
| 44 | + |
|
| 45 | + |
|
| 45 | 46 | ## HIST1H4J Expression |
| 46 | - |
|
| 47 | + |
|
| 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 | - |
|
| 42 | + |
|
| 43 | + |
|
| 41 | 44 | ## HIST2H2BE Expression |
| 42 | - |
|
| 45 | + |
|
| 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 | - |
|
| 52 | + |
|
| 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 | - |
|
| 56 | + |
|
| 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 | - |
|
| 61 | + |
|
| 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 | - |
|
| 60 | + |
|
| 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 | - |
|
| 64 | + |
|
| 63 | 65 | |
| 64 | 66 | ## HLA-B Expression |
| 65 | - |
|
| 67 | + |
|
| 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 | - |
|
| 41 | + |
|
| 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 | - |
|
| 45 | + |
|
| 46 | + |
|
| 44 | 47 | ## HLA-C Expression |
| 45 | - |
|
| 48 | + |
|
| 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 | - |
|
| 33 | + |
|
| 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 | - |
|
| 37 | + |
|
| 37 | 38 | |
| 38 | 39 | ## HLA-DMA Expression |
| 39 | - |
|
| 40 | + |
|
| 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 | - |
|
| 39 | + |
|
| 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 | - |
|
| 43 | + |
|
| 44 | + |
|
| 44 | 45 | ## JAK3 Expression |
| 45 | - |
|
| 46 | + |
|
| 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 | - |
|
| 46 | + |
|
| 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 | - |
|
| 50 | + |
|
| 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 | - |
|
| 59 | + |
|
| 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 | - |
|
| 36 | + |
|
| 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 | - |
|
| 40 | + |
|
| 41 | + |
|
| 39 | 42 | ## JUP Expression |
| 40 | - |
|
| 43 | + |
|
| 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 | - |
|
| 39 | + |
|
| 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 | - |
|
| 43 | + |
|
| 44 | + |
|
| 44 | 45 | ## KCMF1 Expression |
| 45 | - |
|
| 46 | + |
|
| 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 | - |
|
| 38 | + |
|
| 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 | - |
|
| 42 | + |
|
| 43 | + |
|
| 43 | 44 | ## KCNK10 Expression |
| 44 | - |
|
| 45 | + |
|
| 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 | - |
|
| 38 | + |
|
| 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 | - |
|
| 42 | + |
|
| 43 | + |
|
| 43 | 44 | ## KIFC3 Expression |
| 44 | - |
|
| 45 | + |
|
| 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 | - |
|
| 36 | + |
|
| 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 | - |
|
| 40 | + |
|
| 41 | + |
|
| 41 | 42 | ## KIR3DL1 Expression |
| 42 | - |
|
| 43 | + |
|
| 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 | - |
|
| 65 | + |
|
| 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 | - |
|
| 69 | + |
|
| 68 | 70 | |
| 69 | 71 | ## KLF2 Expression |
| 70 | - |
|
| 72 | + |
|
| 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 | - |
|
| 50 | + |
|
| 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 | - |
|
| 54 | + |
|
| 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 | - |
|
| 61 | + |
|
| 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 | - |
|
| 44 | + |
|
| 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 | - |
|
| 48 | + |
|
| 49 | + |
|
| 49 | 50 | ## KLHL21 Expression |
| 50 | - |
|
| 51 | + |
|
| 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 | - |
|
| 38 | + |
|
| 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 | - |
|
| 42 | + |
|
| 43 | + |
|
| 43 | 44 | ## KLHL26 Expression |
| 44 | - |
|
| 45 | + |
|
| 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 | - |
|
| 81 | + |
|
| 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 | - |
|
| 85 | + |
|
| 85 | 86 | |
| 86 | 87 | ## KLHL6 Expression |
| 87 | - |
|
| 88 | + |
|
| 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 | - |
|
| 53 | + |
|
| 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 | - |
|
| 57 | + |
|
| 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 | - |
|
| 66 | + |
|
| 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 | - |
|
| 56 | + |
|
| 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 | - |
|
| 60 | + |
|
| 59 | 61 | |
| 60 | 62 | ## KMT2D Expression |
| 61 | - |
|
| 63 | + |
|
| 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 | - |
|
| 51 | + |
|
| 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 | - |
|
| 55 | + |
|
| 56 | 56 | |
| 57 | 57 | ## KRAS Expression |
| 58 | - |
|
| 58 | + |
|
| 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 | - |
|
| 39 | + |
|
| 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 | - |
|
| 43 | + |
|
| 44 | + |
|
| 44 | 45 | ## LAMA5 Expression |
| 45 | - |
|
| 46 | + |
|
| 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 | - |
|
| 47 | + |
|
| 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 | - |
|
| 51 | + |
|
| 50 | 52 | |
| 51 | 53 | ## LAPTM5 Expression |
| 52 | - |
|
| 54 | + |
|
| 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 | - |
|
| 45 | + |
|
| 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 | - |
|
| 49 | + |
|
| 50 | + |
|
| 48 | 51 | ## LCOR Expression |
| 49 | - |
|
| 52 | + |
|
| 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 | - |
|
| 39 | + |
|
| 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 | - |
|
| 43 | + |
|
| 44 | + |
|
| 44 | 45 | ## LIN54 Expression |
| 45 | - |
|
| 46 | + |
|
| 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 | - |
|
| 53 | + |
|
| 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 | - |
|
| 57 | + |
|
| 58 | + |
|
| 58 | 59 | ## LPP Expression |
| 59 | - |
|
| 60 | + |
|
| 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 | - |
|
| 41 | + |
|
| 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 | - |
|
| 45 | + |
|
| 46 | + |
|
| 46 | 47 | ## LRP12 Expression |
| 47 | - |
|
| 48 | + |
|
| 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 | - |
|
| 41 | + |
|
| 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 | - |
|
| 45 | + |
|
| 46 | + |
|
| 46 | 47 | ## LRRN3 Expression |
| 47 | - |
|
| 48 | + |
|
| 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 | - |
|
| 53 | + |
|
| 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 | - |
|
| 57 | + |
|
| 56 | 58 | |
| 57 | 59 | ## LTB Expression |
| 58 | 60 | |
| 59 | - |
|
| 61 | + |
|
| 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 | - |
|
| 40 | + |
|
| 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 | - |
|
| 44 | + |
|
| 45 | + |
|
| 43 | 46 | ## LYN Expression |
| 44 | - |
|
| 47 | + |
|
| 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 | - |
|
| 45 | + |
|
| 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 | - |
|
| 49 | + |
|
| 50 | + |
|
| 50 | 51 | ## MAGEC1 Expression |
| 51 | - |
|
| 52 | + |
|
| 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 | - |
|
| 39 | + |
|
| 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 | - |
|
| 43 | + |
|
| 44 | + |
|
| 44 | 45 | ## MAGT1 Expression |
| 45 | - |
|
| 46 | + |
|
| 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 | - |
|
| 39 | + |
|
| 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 | - |
|
| 43 | + |
|
| 44 | + |
|
| 42 | 45 | ## MALAT1 Expression |
| 43 | - |
|
| 46 | + |
|
| 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 | - |
|
| 48 | + |
|
| 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 | - |
|
| 52 | + |
|
| 53 | + |
|
| 53 | 54 | ## MAP2K1 Expression |
| 54 | - |
|
| 55 | + |
|
| 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 | - |
|
| 38 | + |
|
| 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 | - |
|
| 42 | + |
|
| 43 | + |
|
| 43 | 44 | ## MAP3K6 Expression |
| 44 | - |
|
| 45 | + |
|
| 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 | - |
|
| 39 | + |
|
| 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 | - |
|
| 43 | + |
|
| 44 | + |
|
| 44 | 45 | ## MET Expression |
| 45 | - |
|
| 46 | + |
|
| 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 | - |
|
| 40 | + |
|
| 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 | - |
|
| 44 | + |
|
| 43 | 45 | |
| 44 | 46 | ## MGA Expression |
| 45 | - |
|
| 47 | + |
|
| 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 | - |
|
| 36 | + |
|
| 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 | - |
|
| 40 | + |
|
| 41 | + |
|
| 39 | 42 | ## MGEA5 Expression |
| 40 | - |
|
| 43 | + |
|
| 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 | - |
|
| 37 | + |
|
| 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 | - |
|
| 31 | + |
|
| 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 | - |
|
| 35 | + |
|
| 36 | + |
|
| 36 | 37 | ## MIR155HG Expression |
| 37 | - |
|
| 38 | + |
|
| 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 | - |
|
| 41 | + |
|
| 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 | - |
|
| 45 | + |
|
| 46 | + |
|
| 46 | 47 | ## MKI67 Expression |
| 47 | - |
|
| 48 | + |
|
| 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 | - |
|
| 38 | + |
|
| 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 | - |
|
| 42 | + |
|
| 43 | + |
|
| 43 | 44 | ## MME Expression |
| 44 | - |
|
| 45 | + |
|
| 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 | - |
|
| 41 | + |
|
| 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 | - |
|
| 45 | + |
|
| 46 | + |
|
| 46 | 47 | ## MPDZ Expression |
| 47 | - |
|
| 48 | + |
|
| 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 | - |
|
| 42 | + |
|
| 43 | + |
|
| 41 | 44 | ## MPEG1 Expression |
| 42 | - |
|
| 45 | + |
|
| 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 |
| 10 | 12 | |
| 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 | - |
|
| 36 | + |
|
| 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 | - |
|
| 40 | + |
|
| 41 | + |
|
| 41 | 42 | ## MRGPRF Expression |
| 42 | - |
|
| 43 | + |
|
| 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 |
| 13 | 15 | |
| 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 | - |
|
| 49 | + |
|
| 50 | + |
|
| 48 | 51 | ## MS4A1 Expression |
| 49 | - |
|
| 52 | + |
|
| 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 | - |
|
| 39 | + |
|
| 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 | - |
|
| 43 | + |
|
| 44 | + |
|
| 44 | 45 | ## MSH2 Expression |
| 45 | - |
|
| 46 | + |
|
| 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 | - |
|
| 39 | + |
|
| 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 | - |
|
| 43 | + |
|
| 44 | + |
|
| 44 | 45 | ## MSH6 Expression |
| 45 | - |
|
| 46 | + |
|
| 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 | - |
|
| 52 | + |
|
| 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 | - |
|
| 56 | + |
|
| 57 | 57 | |
| 58 | 58 | ## MTOR Expression |
| 59 | - |
|
| 59 | + |
|
| 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 | - |
|
| 41 | + |
|
| 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 | - |
|
| 45 | + |
|
| 46 | + |
|
| 46 | 47 | ## MYB Expression |
| 47 | - |
|
| 48 | + |
|
| 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 | - |
|
| 39 | + |
|
| 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 | - |
|
| 43 | + |
|
| 44 | + |
|
| 44 | 45 | ## MYBPC2 Expression |
| 45 | - |
|
| 46 | + |
|
| 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 | - |
|
| 91 | + |
|
| 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 | - |
|
| 95 | + |
|
| 94 | 96 | |
| 95 | 97 | ## MYC Expression |
| 96 | 98 | |
| 97 | - |
|
| 99 | + |
|
| 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 | - |
|
| 36 | + |
|
| 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 | - |
|
| 40 | + |
|
| 41 | + |
|
| 40 | 42 | ## MYCBP2 Expression |
| 41 | - |
|
| 43 | + |
|
| 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 | - |
|
| 51 | + |
|
| 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 | - |
|
| 55 | + |
|
| 56 | + |
|
| 56 | 57 | ## MYD88 Expression |
| 57 | - |
|
| 58 | + |
|
| 58 | 59 | <!-- ORIGIN: yanBCRTLRSignaling2012a --> |
| 59 | 60 | <!-- DLBCL: ngoOncogenicallyActiveMYD882011a --> |
| 60 | 61 | <!-- MZL: yanBCRTLRSignaling2012a --> |
| 62 | + |
|
| 61 | 63 | ## References |
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