8a28daa37096edfd5fcb31703cb04a00ba128e5d
MZL_genes.md
| ... | ... | @@ -15,43 +15,43 @@ link-citations: true |
| 15 | 15 | |
| 16 | 16 | |Gene|Summary| First MZL study | Other entities | QC result | |
| 17 | 17 | |:-:|:--:|:-:|:-|:-| |
| 18 | -|[ACTB](ACTB)|Tier 1 GE[@], aSHM||[@drevalGeneticSubdivisionsFollicular2023; @lohrDiscoveryPrioritizationSomatic2012; @wienandGenomicAnalysesFlowsorted2019]|| |
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| 18 | +|[ACTB](ACTB)|Tier 1 GE, aSHM||[@drevalGeneticSubdivisionsFollicular2023; @lohrDiscoveryPrioritizationSomatic2012; @wienandGenomicAnalysesFlowsorted2019]|| |
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| 19 | 19 | |[ARID1A](ARID1A)|Tier 1 GE[@rossiCodingGenomeSplenic2012], FE[@barisicARID1AOrchestratesSWI2024]|[Rossi et al](papers/rossiCodingGenomeSplenic2012)|[@krysiakRecurrentSomaticMutations2017; @loveGeneticLandscapeMutations2012; @wienandGenomicAnalysesFlowsorted2019; @zhangGeneticHeterogeneityDiffuse2013]|| |
| 20 | 20 | |[ATM](ATM)|Tier 1 GE[@braggioGenomicAnalysisMarginal2012], FE[@camachoATMGeneInactivation2002]|[Braggio et al](papers/braggioGenomicAnalysisMarginal2012)|[@beaLandscapeSomaticMutations2013; @reddyGeneticFunctionalDrivers2017]|| |
| 21 | 21 | |[BCL10](BCL10)|Tier 1 GE[@spinaGeneticsNodalMarginal2016], FE[@xiaBCL10MutationsDefine2022]|[Spina et al](papers/spinaGeneticsNodalMarginal2016)|[@morinFrequentMutationHistonemodifying2011; @russler-germainMutationsAssociatedProgression2023]|| |
| 22 | -|[BCL7A](BCL7A)|Tier 1 GE[@], FE[@balinas-gaviraFrequentMutationsAminoterminal2020], aSHM||[@grandeGenomewideDiscoverySomatic2019; @krysiakRecurrentSomaticMutations2017; @morinFrequentMutationHistonemodifying2011; @reichelFlowSortingExome2015]|| |
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| 22 | +|[BCL7A](BCL7A)|Tier 1 GE, FE[@balinas-gaviraFrequentMutationsAminoterminal2020], aSHM||[@grandeGenomewideDiscoverySomatic2019; @krysiakRecurrentSomaticMutations2017; @morinFrequentMutationHistonemodifying2011; @reichelFlowSortingExome2015]|| |
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| 23 | 23 | |[BIRC3](BIRC3)|Tier 1 GE[@rossiAlterationBIRC3Multiple2011], aSHM|[Rossi et al](papers/rossiAlterationBIRC3Multiple2011)|[@arthurGenomewideDiscoverySomatic2018; @beaLandscapeSomaticMutations2013; @dunsCharacterizationDLBCLPMBL2021]|| |
| 24 | -|[BRAF](BRAF)|Tier 1 GE[@], FE[@wanMechanismActivationRAFERK2004]||[@loveGeneticLandscapeMutations2012; @tiacciBRAFMutationsHairycell2011]|| |
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| 25 | -|[BTG1](BTG1)|Tier 1 GE[@], FE[@almasmoumFrequentLossBTG12021], aSHM||[@burkhardtClinicalRelevanceMolecular2022; @drevalGeneticSubdivisionsFollicular2023; @morinFrequentMutationHistonemodifying2011; @sarkozyMutationalLandscapeGray2021]|| |
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| 24 | +|[BRAF](BRAF)|Tier 1 GE, FE[@wanMechanismActivationRAFERK2004]||[@loveGeneticLandscapeMutations2012; @tiacciBRAFMutationsHairycell2011]|| |
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| 25 | +|[BTG1](BTG1)|Tier 1 GE, FE[@almasmoumFrequentLossBTG12021], aSHM||[@burkhardtClinicalRelevanceMolecular2022; @drevalGeneticSubdivisionsFollicular2023; @morinFrequentMutationHistonemodifying2011; @sarkozyMutationalLandscapeGray2021]|| |
|
| 26 | 26 | |[CARD11](CARD11)|Tier 1 GE[@yanBCRTLRSignaling2012], FE[@lenzOncogenicCARD11Mutations2008]|[Yan et al](papers/yanBCRTLRSignaling2012)|[@lenzOncogenicCARD11Mutations2008; @morinFrequentMutationHistonemodifying2011; @wuGeneticHeterogeneityPrimary2016]|| |
| 27 | 27 | |[CCND3](CCND3)|Tier 1 GE[@jalladesExomeSequencingIdentifies2017], FE[@schmitzBurkittLymphomaPathogenesis2012]|[Jallades et al](papers/jalladesExomeSequencingIdentifies2017)|[@deschGenotypingCirculatingTumor2020; @morinFrequentMutationHistonemodifying2011; @richterRecurrentMutationID32012]|| |
| 28 | -|[CXCR4](CXCR4)|Tier 1 GE[@], FE[@zmajkovicovaGenotypephenotypeCorrelationsWHIM2022], aSHM||[@khodabakhshiRecurrentTargetsAberrant2012; @krysiakRecurrentSomaticMutations2017; @paneaWholeGenomeLandscape2019]|| |
|
| 28 | +|[CXCR4](CXCR4)|Tier 1 GE, FE[@zmajkovicovaGenotypephenotypeCorrelationsWHIM2022], aSHM||[@khodabakhshiRecurrentTargetsAberrant2012; @krysiakRecurrentSomaticMutations2017; @paneaWholeGenomeLandscape2019]|| |
|
| 29 | 29 | |[DTX1](DTX1)|Tier 1 GE[@rossiCodingGenomeSplenic2012], aSHM|[Rossi et al](papers/rossiCodingGenomeSplenic2012)|[@gomezUltraDeepSequencingReveals2023; @loveGeneticLandscapeMutations2012; @zhangGeneticHeterogeneityDiffuse2013]|| |
| 30 | 30 | |[EP300](EP300)|Tier 1 GE[@rossiCodingGenomeSplenic2012], FE[@pasqualucciInactivatingMutationsAcetyltransferase2011]|[Rossi et al](papers/rossiCodingGenomeSplenic2012)|[@pasqualucciInactivatingMutationsAcetyltransferase2011]|| |
| 31 | -|[EZH2](EZH2)|Tier 1 GE[@], FE[@sneeringerCoordinatedActivitiesWildtype2010]||[@loveGeneticLandscapeMutations2012; @morinSomaticMutationsAltering2010; @mottokIntegrativeGenomicAnalysis2019]|| |
|
| 31 | +|[EZH2](EZH2)|Tier 1 GE, FE[@sneeringerCoordinatedActivitiesWildtype2010]||[@loveGeneticLandscapeMutations2012; @morinSomaticMutationsAltering2010; @mottokIntegrativeGenomicAnalysis2019]|| |
|
| 32 | 32 | |[FAS](FAS)|Tier 1 GE[@spinaGeneticsNodalMarginal2016], FE[@wangFasFADDDeathDomain2010]|[Spina et al](papers/spinaGeneticsNodalMarginal2016)|[@morinFrequentMutationHistonemodifying2011; @schollMutationsRegionFAS2007]|| |
| 33 | 33 | |[FAT1](FAT1)|Tier 1 GE[@spinaGeneticsNodalMarginal2016]|[Spina et al](papers/spinaGeneticsNodalMarginal2016)||| |
| 34 | -|[FOXO1](FOXO1)|Tier 1 GE[@], FE[@trinhAnalysisFOXO1Mutations]||[@dunsCharacterizationDLBCLPMBL2021; @morinFrequentMutationHistonemodifying2011; @schmitzBurkittLymphomaPathogenesis2012]|| |
|
| 35 | -|[H1-4](H1-4)|Tier 1 GE[@]|||| |
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| 36 | -|[H1-5](H1-5)|Tier 1 GE[@]|||| |
|
| 34 | +|[FOXO1](FOXO1)|Tier 1 GE, FE[@trinhAnalysisFOXO1Mutations]||[@dunsCharacterizationDLBCLPMBL2021; @morinFrequentMutationHistonemodifying2011; @schmitzBurkittLymphomaPathogenesis2012]|| |
|
| 35 | +|[H1-4](H1-4)|Tier 1 GE|||| |
|
| 36 | +|[H1-5](H1-5)|Tier 1 GE|||| |
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| 37 | 37 | |[ID3](ID3)|Tier 1 GE[@spinaGeneticsNodalMarginal2016]|[Spina et al](papers/spinaGeneticsNodalMarginal2016)|[@richterRecurrentMutationID32012; @schmitzGeneticsPathogenesisDiffuse2018]|| |
| 38 | 38 | |[KLF2](KLF2)|Tier 1 GE[@jalladesExomeSequencingIdentifies2017], aSHM|[Jallades et al](papers/jalladesExomeSequencingIdentifies2017)|[@deschGenotypingCirculatingTumor2020; @drevalGeneticSubdivisionsFollicular2023; @pasqualucciAnalysisCodingGenome2011]|| |
| 39 | 39 | |[KLHL6](KLHL6)|Tier 1 GE[@ganapathiGeneticLandscapeDural2016], FE[@choiLossKLHL6Promotes2018], aSHM|[Ganapathi et al](papers/ganapathiGeneticLandscapeDural2016)|[@morinFrequentMutationHistonemodifying2011]|| |
| 40 | 40 | |[KMT2D](KMT2D)|Tier 1 GE[@rossiCodingGenomeSplenic2012], FE[@zhangDisruptionKMT2DPerturbs2015]|[Rossi et al](papers/rossiCodingGenomeSplenic2012)|[@beaLandscapeSomaticMutations2013; @deschGenotypingCirculatingTumor2020; @grandeGenomewideDiscoverySomatic2019; @morinFrequentMutationHistonemodifying2011]|| |
| 41 | 41 | |[MAP3K14](MAP3K14)|Tier 1 GE[@rossiAlterationBIRC3Multiple2011]|[Rossi et al](papers/rossiAlterationBIRC3Multiple2011)|[@ottoGeneticLesionsTRAF32012]|| |
| 42 | -|[MPEG1](MPEG1)|Tier 1 GE[@]||[@morinMutationalStructuralAnalysis2013]|| |
|
| 42 | +|[MPEG1](MPEG1)|Tier 1 GE||[@morinMutationalStructuralAnalysis2013]|| |
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| 43 | 43 | |[MYD88](MYD88)|Tier 1 GE[@yanBCRTLRSignaling2012], FE[@ngoOncogenicallyActiveMYD882011]|[Yan et al](papers/yanBCRTLRSignaling2012)|[@drevalGeneticSubdivisionsFollicular2023; @ngoOncogenicallyActiveMYD882011]|| |
| 44 | 44 | |[NCOR2](NCOR2)|Tier 1 GE[@spinaGeneticsNodalMarginal2016]|[Spina et al](papers/spinaGeneticsNodalMarginal2016)|[@sarkozyMutationalLandscapeGray2021; @schmitzBurkittLymphomaPathogenesis2012]|| |
| 45 | 45 | |[NOL9](NOL9)|Tier 1 GE[@spinaGeneticsNodalMarginal2016]|[Spina et al](papers/spinaGeneticsNodalMarginal2016)|[@schmitzGeneticsPathogenesisDiffuse2018]|| |
| 46 | 46 | |[NOTCH1](NOTCH1)|Tier 1 GE[@rossiCodingGenomeSplenic2012], FE[@ryanCellRegulomeLinks2017]|[Rossi et al](papers/rossiCodingGenomeSplenic2012)|[@beaLandscapeSomaticMutations2013; @loveGeneticLandscapeMutations2012; @pasqualucciAnalysisCodingGenome2011]|| |
| 47 | 47 | |[NOTCH2](NOTCH2)|Tier 1 GE[@rossiCodingGenomeSplenic2012], FE[@leeGainoffunctionMutationsCopy2009]|[Rossi et al](papers/rossiCodingGenomeSplenic2012)|[@beaLandscapeSomaticMutations2013; @zhangGeneticHeterogeneityDiffuse2013]|| |
| 48 | -|[PCLO](PCLO)|Tier 1 GE[@]||[@lohrDiscoveryPrioritizationSomatic2012]|| |
|
| 49 | -|[POU2AF1](POU2AF1)|Tier 1 GE[@], FE[@gonzalez-rinconUnravelingTransformationFollicular2019], aSHM||[@chapuyMolecularSubtypesDiffuse2018; @krysiakRecurrentSomaticMutations2017]|| |
|
| 48 | +|[PCLO](PCLO)|Tier 1 GE||[@lohrDiscoveryPrioritizationSomatic2012]|| |
|
| 49 | +|[POU2AF1](POU2AF1)|Tier 1 GE, FE[@gonzalez-rinconUnravelingTransformationFollicular2019], aSHM||[@chapuyMolecularSubtypesDiffuse2018; @krysiakRecurrentSomaticMutations2017]|| |
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| 50 | 50 | |[PTPRD](PTPRD)|Tier 1 GE[@spinaGeneticsNodalMarginal2016]|[Spina et al](papers/spinaGeneticsNodalMarginal2016)|[@drevalGeneticSubdivisionsFollicular2023]|| |
| 51 | 51 | |[SIN3A](SIN3A)|Tier 1 GE[@rossiCodingGenomeSplenic2012]|[Rossi et al](papers/rossiCodingGenomeSplenic2012)|[@chapuyMolecularSubtypesDiffuse2018; @grandeGenomewideDiscoverySomatic2019]|| |
| 52 | -|[SOCS1](SOCS1)|Tier 1 GE[@], FE[@melznerBiallelicMutationSOCS12005], aSHM||[@drevalGeneticSubdivisionsFollicular2023; @morinFrequentMutationHistonemodifying2011; @wenigerMutationsTumorSuppressor2006]|| |
|
| 52 | +|[SOCS1](SOCS1)|Tier 1 GE, FE[@melznerBiallelicMutationSOCS12005], aSHM||[@drevalGeneticSubdivisionsFollicular2023; @morinFrequentMutationHistonemodifying2011; @wenigerMutationsTumorSuppressor2006]|| |
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| 53 | 53 | |[SPEN](SPEN)|Tier 1 GE[@rossiCodingGenomeSplenic2012]|[Rossi et al](papers/rossiCodingGenomeSplenic2012)|[@albuquerqueEnhancingKnowledgeDiscovery2017; @sarkozyMutationalLandscapeGray2021]|| |
| 54 | -|[STAT6](STAT6)|Tier 1 GE[@], FE[@mentzPARP14NovelTarget2022]||[@ritzRecurrentMutationsSTAT62009; @yildizActivatingSTAT6Mutations2015]|| |
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| 54 | +|[STAT6](STAT6)|Tier 1 GE, FE[@mentzPARP14NovelTarget2022]||[@ritzRecurrentMutationsSTAT62009; @yildizActivatingSTAT6Mutations2015]|| |
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| 55 | 55 | |[TBL1XR1](TBL1XR1)|Tier 1 GE[@rossiCodingGenomeSplenic2012], FE[@venturuttiTBL1XR1MutationsDrive2020]|[Rossi et al](papers/rossiCodingGenomeSplenic2012)|[@drevalGeneticSubdivisionsFollicular2023; @lohrDiscoveryPrioritizationSomatic2012]|| |
| 56 | 56 | |[TNFAIP3](TNFAIP3)|Tier 1 GE[@rossiAlterationBIRC3Multiple2011], FE[@compagnoMutationsMultipleGenes2009]|[Rossi et al](papers/rossiAlterationBIRC3Multiple2011)|[@compagnoMutationsMultipleGenes2009; @drevalGeneticSubdivisionsFollicular2023; @schmitzTNFAIP3A20Tumor2009]|| |
| 57 | 57 | |[TNFRSF14](TNFRSF14)|Tier 1 GE[@spinaGeneticsNodalMarginal2016], FE[@]|[Spina et al](papers/spinaGeneticsNodalMarginal2016)|[@cheungAcquiredTNFRSF14Mutations2010; @morinFrequentMutationHistonemodifying2011]|| |
| ... | ... | @@ -88,8 +88,8 @@ link-citations: true |
| 88 | 88 | |[DNAH7](DNAH7)|Tier 2 GE[@jalladesExomeSequencingIdentifies2017]|[Jallades et al](papers/jalladesExomeSequencingIdentifies2017)||| |
| 89 | 89 | |[DNAI1](DNAI1)|Tier 2 GE[@jalladesExomeSequencingIdentifies2017]|[Jallades et al](papers/jalladesExomeSequencingIdentifies2017)||| |
| 90 | 90 | |[DOCK6](DOCK6)|Tier 2 GE[@jalladesExomeSequencingIdentifies2017]|[Jallades et al](papers/jalladesExomeSequencingIdentifies2017)||| |
| 91 | -|[DSP](DSP)|Tier 2 GE[@]||[@zhangGeneticHeterogeneityDiffuse2013]|| |
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| 92 | -|[DTNB](DTNB)|Tier 2 GE[@]|||| |
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| 91 | +|[DSP](DSP)|Tier 2 GE||[@zhangGeneticHeterogeneityDiffuse2013]|| |
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| 92 | +|[DTNB](DTNB)|Tier 2 GE|||| |
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| 93 | 93 | |[DTX3L](DTX3L)|Tier 2 GE[@jalladesExomeSequencingIdentifies2017]|[Jallades et al](papers/jalladesExomeSequencingIdentifies2017)||| |
| 94 | 94 | |[EGR1](EGR1)|Tier 2 GE[@rossiCodingGenomeSplenic2012]|[Rossi et al](papers/rossiCodingGenomeSplenic2012)|[@krysiakRecurrentSomaticMutations2017; @reichelFlowSortingExome2015]|| |
| 95 | 95 | |[EGR2](EGR2)|Tier 2 GE[@rossiCodingGenomeSplenic2012]|[Rossi et al](papers/rossiCodingGenomeSplenic2012)||| |
| ... | ... | @@ -121,9 +121,9 @@ link-citations: true |
| 121 | 121 | |[PLA2G4D](PLA2G4D)|Tier 2 GE[@parryWholeExomeSequencing2013]|[Parry et al](papers/parryWholeExomeSequencing2013)||| |
| 122 | 122 | |[PLXNB3](PLXNB3)|Tier 2 GE[@spinaGeneticsNodalMarginal2016]|[Spina et al](papers/spinaGeneticsNodalMarginal2016)|[@zhangGenomicLandscapeMantle2014]|| |
| 123 | 123 | |[RAF1](RAF1)|Tier 2 GE[@jalladesExomeSequencingIdentifies2017]|[Jallades et al](papers/jalladesExomeSequencingIdentifies2017)|[@fanComprehensiveCharacterizationDriver2020]|| |
| 124 | -|[RAPGEF2](RAPGEF2)|Tier 2 GE[@]||[@zhangGeneticHeterogeneityDiffuse2013]|| |
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| 124 | +|[RAPGEF2](RAPGEF2)|Tier 2 GE||[@zhangGeneticHeterogeneityDiffuse2013]|| |
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| 125 | 125 | |[RCOR1](RCOR1)|Tier 2 GE[@spinaGeneticsNodalMarginal2016]|[Spina et al](papers/spinaGeneticsNodalMarginal2016)||| |
| 126 | -|[RFTN1](RFTN1)|Tier 2 GE[@], aSHM||[@arthurGenomewideDiscoverySomatic2018; @dunsCharacterizationDLBCLPMBL2021]|| |
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| 126 | +|[RFTN1](RFTN1)|Tier 2 GE, aSHM||[@arthurGenomewideDiscoverySomatic2018; @dunsCharacterizationDLBCLPMBL2021]|| |
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| 127 | 127 | |[ROCK1](ROCK1)|Tier 2 GE[@jalladesExomeSequencingIdentifies2017]|[Jallades et al](papers/jalladesExomeSequencingIdentifies2017)||| |
| 128 | 128 | |[RPL1L](RPL1L)|Tier 2 GE[@spinaGeneticsNodalMarginal2016]|[Spina et al](papers/spinaGeneticsNodalMarginal2016)||| |
| 129 | 129 | |[SAMD5](SAMD5)|Tier 2 GE[@spinaGeneticsNodalMarginal2016]|[Spina et al](papers/spinaGeneticsNodalMarginal2016)||| |