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Models:
Wanda Brown
WandaB/
LLMPP
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[fcb5af]: / resources / curated / dlbcl_genes.tsv

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# Gene Tier aSHM QC Mean variant quality citekey PMID MutationEffect Mutation-PMID MutationEffect-citekey LymphGen
1 ACTB 1 TRUE NA lohrDiscoveryPrioritizationSomatic2012 22343534 TRUE
2 ACTG1 1 TRUE NA fanComprehensiveCharacterizationDriver2020 32565964 FALSE
3 ARID1A 1 FALSE NA zhangGeneticHeterogeneityDiffuse2013 23292937 LOF 38458187 barisicARID1AOrchestratesSWI2024 TRUE
4 ATM 1 FALSE NA reddyGeneticFunctionalDrivers2017 28985567 LOF 11756177 camachoATMGeneInactivation2002 FALSE
5 B2M 1 FALSE NA morinFrequentMutationHistonemodifying2011 21796119 LOF 22137796 challa-malladiCombinedGeneticInactivation2011 FALSE
6 BCL10 1 FALSE NA morinFrequentMutationHistonemodifying2011 21796119 GOF 35658124 xiaBCL10MutationsDefine2022 TRUE
7 BCL2 1 TRUE NA tanakaFrequentIncidenceSomatic1992 1339299 TRUE
8 BCL6 1 TRUE NA morinFrequentMutationHistonemodifying2011 21796119 LOF 12504096 masclePointMutationsBCL62003 TRUE
9 BCL7A 1 TRUE NA morinFrequentMutationHistonemodifying2011 21796119 LOF 32576963 balinas-gaviraFrequentMutationsAminoterminal2020 FALSE
10 BIRC6 1 FALSE NA reddyGeneticFunctionalDrivers2017 28985567 FALSE
11 BRAF 1 FALSE NA tiacciBRAFMutationsHairycell2011 22343534 LOF 15035987 wanMechanismActivationRAFERK2004 FALSE
12 BTG1 1 TRUE NA morinFrequentMutationHistonemodifying2011 21796119 LOF 33021411 almasmoumFrequentLossBTG12021 TRUE
13 BTG2 1 TRUE NA morinFrequentMutationHistonemodifying2011 21796119 TRUE
14 BTK 1 FALSE NA albuquerqueEnhancingKnowledgeDiscovery2017 28327945 LOF 33419778 huFollicularLymphomaassociatedBTK2021 FALSE
15 CARD11 1 FALSE NA lenzOncogenicCARD11Mutations2008 18323416 GOF 18323416 lenzOncogenicCARD11Mutations2008 FALSE
16 CCND3 1 FALSE NA morinFrequentMutationHistonemodifying2011 21796119 GOF 22885699 schmitzBurkittLymphomaPathogenesis2012 FALSE
17 CD58 1 FALSE NA morinFrequentMutationHistonemodifying2011 21796119 LOF 22137796 challa-malladiCombinedGeneticInactivation2011 TRUE
18 CD70 1 FALSE NA morinFrequentMutationHistonemodifying2011 21796119 LOF 36471481 nieDualRoleCD702022 TRUE
19 CD79B 1 FALSE NA davisChronicActiveBcellreceptor2010 20054396 GOF 20054396 davisChronicActiveBcellreceptor2010 TRUE
20 CD83 1 TRUE NA morinMutationalStructuralAnalysis2013 23699601 TRUE
21 CDKN2A 1 FALSE NA morinMutationalStructuralAnalysis2013 23699601 LOF 19260062 kannengiesserFunctionalStructuralGenetic2009 TRUE
22 CIITA 1 TRUE NA morinFrequentMutationHistonemodifying2011 21796119 LOF 26549456 mottokGenomicAlterationsCIITA2015 TRUE
23 CREBBP 1 FALSE NA pasqualucciInactivatingMutationsAcetyltransferase2011 21390126 LOF 21390126 pasqualucciInactivatingMutationsAcetyltransferase2011 TRUE
24 CXCR4 1 TRUE NA khodabakhshiRecurrentTargetsAberrant2012 23131835 LOF 36089616 zmajkovicovaGenotypephenotypeCorrelationsWHIM2022 FALSE
25 DDX3X 1 FALSE NA reddyGeneticFunctionalDrivers2017 28985567 LOF 34437837 gongSequentialInverseDysregulation2021 TRUE
26 DTX1 1 TRUE NA zhangGeneticHeterogeneityDiffuse2013 23292937 TRUE
27 DUSP2 1 TRUE NA lohrDiscoveryPrioritizationSomatic2012 22343534 TRUE
28 EBF1 1 TRUE NA bohleRoleEarlyBcell2013 23174882 LOF 28692033 ramirez-komoSpontaneousLossLineage2017 FALSE
29 EEF1A1 1 FALSE NA chapuyMolecularSubtypesDiffuse2018 29713087 FALSE
30 EP300 1 FALSE NA pasqualucciInactivatingMutationsAcetyltransferase2011 21390126 LOF 21390126 pasqualucciInactivatingMutationsAcetyltransferase2011 TRUE
31 ETS1 1 TRUE NA morinFrequentMutationHistonemodifying2011 21796119 TRUE
32 ETV6 1 TRUE NA lohrDiscoveryPrioritizationSomatic2012 22343534 LOF 24997145 wangETV6MutationCohort2014 TRUE
33 EZH2 1 FALSE NA NA morinSomaticMutationsAltering2010 20081860 GOF 21078963 sneeringerCoordinatedActivitiesWildtype2010 TRUE
34 FAS 1 FALSE NA schollMutationsRegionFAS2007 17487740 LOF 20935634 wangFasFADDDeathDomain2010 FALSE
35 FBXO11 1 FALSE NA arthurGenomewideDiscoverySomatic2018 30275490 LOF 22113614 duanFBXO11TargetsBCL62011 FALSE
36 FBXW7 1 FALSE NA zhangGeneticHeterogeneityDiffuse2013 23292937 LOF 32350066 saffieFBXW7TriggersDegradation2020 FALSE
37 FOXO1 1 FALSE NA morinFrequentMutationHistonemodifying2011 21796119 GOF 23460611 trinhAnalysisFOXO1Mutations FALSE
38 GNA13 1 FALSE NA morinFrequentMutationHistonemodifying2011 21796119 LOF 25274307 muppidiLossSignalingGa132014 FALSE
39 GNAI2 1 FALSE NA morinMutationalStructuralAnalysis2013 23699601 GOF 25274307 muppidiLossSignalingGa132014 FALSE
40 GRB2 1 FALSE NA pasqualucciAnalysisCodingGenome2011 21804550 FALSE
41 GRHPR 1 TRUE NA schmitzGeneticsPathogenesisDiffuse2018 29641966 TRUE
42 HIST1H1B 1 TRUE NA chapuyMolecularSubtypesDiffuse2018 29713087 FALSE
43 HIST1H1C 1 TRUE NA morinFrequentMutationHistonemodifying2011 21796119 FALSE
44 HIST1H1D 1 TRUE NA morinMutationalStructuralAnalysis2013 23699601 FALSE
45 HIST1H1E 1 TRUE NA lohrDiscoveryPrioritizationSomatic2012 22343534 FALSE
46 HIST1H2AC 1 TRUE NA morinMutationalStructuralAnalysis2013 23699601 FALSE
47 HIST1H2AM 1 TRUE NA chapuyMolecularSubtypesDiffuse2018 29713087 FALSE
48 HIST1H2BC 1 TRUE NA lohrDiscoveryPrioritizationSomatic2012 22343534 FALSE
49 HIST1H2BK 1 TRUE NA zhangGeneticHeterogeneityDiffuse2013 23292937 FALSE
50 HIST1H3B 1 TRUE NA lohrDiscoveryPrioritizationSomatic2012 22343534 FALSE
51 HIST2H2BE 1 TRUE NA chapuyMolecularSubtypesDiffuse2018 29713087 FALSE
52 HLA-A 1 FALSE NA lohrDiscoveryPrioritizationSomatic2012 22343534 LOF 34050029 fangazioGeneticMechanismsHLAI2021 TRUE
53 HLA-B 1 FALSE NA lohrDiscoveryPrioritizationSomatic2012 22343534 LOF 34050029 fangazioGeneticMechanismsHLAI2021 TRUE
54 HLA-C 1 FALSE NA chapuyMolecularSubtypesDiffuse2018 29713087 LOF 34050029 fangazioGeneticMechanismsHLAI2021 FALSE
55 HLA-DMB 1 FALSE NA hubschmannMutationalMechanismsShaping2021 33953289 FALSE
56 HNRNPU 1 FALSE NA reddyGeneticFunctionalDrivers2017 28985567 FALSE
57 HVCN1 1 FALSE NA chapuyMolecularSubtypesDiffuse2018 29713087 FALSE
58 IKZF3 1 FALSE NA morinFrequentMutationHistonemodifying2011 21796119 GOF 33689703 lazarianHotspotMutationTranscription2021 FALSE
59 IL4R 1 TRUE NA dunsCharacterizationDLBCLPMBL2021 33684939 GOF 29467182 viganoSomaticIL4RMutations2018 FALSE
60 IRF4 1 TRUE NA morinFrequentMutationHistonemodifying2011 21796119 TRUE
61 IRF8 1 TRUE NA morinFrequentMutationHistonemodifying2011 21796119 LOF 38996030 qiuIRF8mutantCellLymphoma2024 TRUE
62 ITPKB 1 TRUE NA schmitzGeneticsPathogenesisDiffuse2018 29641966 LOF 29650799 tiacciPervasiveMutationsJAKSTAT2018 TRUE
63 JUNB 1 FALSE PASS 3 lohrDiscoveryPrioritizationSomatic2012 22343534 TRUE
64 KLF2 1 TRUE NA pasqualucciAnalysisCodingGenome2011 21804550 TRUE
65 KLHL14 1 FALSE NA zhangGeneticHeterogeneityDiffuse2013 23292937 LOF 32127472 choiRegulationCellReceptordependent2020 TRUE
66 KLHL6 1 TRUE NA morinFrequentMutationHistonemodifying2011 21796119 LOF 29695787 choiLossKLHL6Promotes2018 FALSE
67 KMT2C 1 FALSE NA zhangGeneticHeterogeneityDiffuse2013 23292937 FALSE
68 KMT2D 1 FALSE NA morinFrequentMutationHistonemodifying2011 21796119 LOF 26366712 zhangDisruptionKMT2DPerturbs2015 TRUE
69 KRAS 1 FALSE NA lohrDiscoveryPrioritizationSomatic2012 22343534 GOF 9219684 scheffzekRasRasGAPComplexStructural1997 FALSE
70 LRRN3 1 FALSE NA zhangGeneticHeterogeneityDiffuse2013 23292937 FALSE
71 LTB 1 TRUE NA chapuyMolecularSubtypesDiffuse2018 29713087 FALSE
72 MEF2B 1 TRUE NA morinFrequentMutationHistonemodifying2011 21796119 NEO 23974956; 26245647 ponMEF2BMutationsNonHodgkin2015 TRUE
73 MEF2C 1 TRUE NA hubschmannMutationalMechanismsShaping2021 33953289 FALSE
74 MGA 1 FALSE NA reddyGeneticFunctionalDrivers2017 28985567 LOF 23039309 depaoliMGASuppressorMYC2013 FALSE
75 MIR142 1 TRUE NA kwanhianMicroRNA142Mutated202012 23342264 LOF 29724719 trissalMIR142LossofFunctionMutations2018 FALSE
76 MPEG1 1 FALSE NA morinMutationalStructuralAnalysis2013 23699601 TRUE
77 MS4A1 1 TRUE NA rushtonGeneticEvolutionaryPatterns2020 32589730 LOF 32589730 rushtonGeneticEvolutionaryPatterns2020 FALSE
78 MTOR 1 FALSE NA zhangGeneticHeterogeneityDiffuse2013 23292937 GOF 24631838 grabinerDiverseArrayCancerassociated2014 FALSE
79 MYC 1 TRUE NA pasqualucciHypermutationMultipleProtooncogenes2001 11460166 GOF 38565249 freieGermlinePointMutation2024 FALSE
80 MYD88 1 FALSE NA ngoOncogenicallyActiveMYD882011 21179087 GOF 21179087 ngoOncogenicallyActiveMYD882011 TRUE
81 NFKBIA 1 FALSE NA thomasMutationalAnalysisIkappaBalpha2004 15198731 LOF 10637284 jungnickelClonalDeleteriousMutations2000 TRUE
82 NFKBIE 1 FALSE NA morinGeneticLandscapesRelapsed2016 26647218 LOF 25987724 mansouriFunctionalLossIkBe2015 FALSE
83 NFKBIZ 1 TRUE NA morinGeneticLandscapesRelapsed2016 26647218 GOF 302754900 arthurGenomewideDiscoverySomatic2018 FALSE
84 NOL9 1 FALSE NA schmitzGeneticsPathogenesisDiffuse2018 29641966 TRUE
85 NOTCH1 1 FALSE NA pasqualucciAnalysisCodingGenome2011 21804550 GOF 29045844 ryanCellRegulomeLinks2017 TRUE
86 NOTCH2 1 FALSE NA zhangGeneticHeterogeneityDiffuse2013 23292937 GOF 19445024 leeGainoffunctionMutationsCopy2009 TRUE
87 OSBPL10 1 TRUE NA zhangGeneticHeterogeneityDiffuse2013 23292937 TRUE
88 P2RY8 1 FALSE NA lohrDiscoveryPrioritizationSomatic2012 22343534 LOF 25274307 muppidiLossSignalingGa132014 FALSE
89 PIM1 1 TRUE NA pasqualucciHypermutationMultipleProtooncogenes2001 11460166 GOF 27904766 kuoRolePIM1Ibrutinibresistant2016 TRUE
90 PIM2 1 TRUE NA reddyGeneticFunctionalDrivers2017 28985567 TRUE
91 POU2AF1 1 TRUE NA chapuyMolecularSubtypesDiffuse2018 29713087 LOF 30802265 gonzalez-rinconUnravelingTransformationFollicular2019 FALSE
92 POU2F2 1 FALSE NA lohrDiscoveryPrioritizationSomatic2012 22343534 LOF 26993806 hodsonRegulationNormalBcell2016 FALSE
93 PRDM1 1 FALSE NA pasqualucciInactivationPRDM1BLIMP12006 NA LOF 16492805 pasqualucciInactivationPRDM1BLIMP12006 TRUE
94 PTEN 1 FALSE NA reddyGeneticFunctionalDrivers2017 28985567 LOF 23840064 pfeiferPTENLossDefines2013 FALSE
95 PTPN6 1 FALSE PASS 3 reddyGeneticFunctionalDrivers2017 28985567 LOF 26565811 demosthenousLossFunctionMutations2015 FALSE
96 RB1 1 FALSE NA morinMutationalStructuralAnalysis2013 23699601 LOF 17332242 pinyolInactivationRB1Mantlecell2007 FALSE
97 RFX7 1 FALSE NA NA arthurGenomewideDiscoverySomatic2018 30275490 LOF 30926791 weberPiggyBacTransposonTools2019 FALSE
98 RHOA 1 FALSE NA zhangGeneticHeterogeneityDiffuse2013 23292937 LOF 26616858 ohayreInactivatingMutationsGNA132016 FALSE
99 RRAGC 1 FALSE NA okosunRecurrentMTORC1activatingRRAGC2016 26691987 GOF 26691987 okosunRecurrentMTORC1activatingRRAGC2016 FALSE
100 S1PR2 1 TRUE NA morinFrequentMutationHistonemodifying2011 21796119 LOF 25274307 muppidiLossSignalingGa132014 TRUE