ARID1A - morinlab/LLMPP GitHub Wiki
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ARID1A
Overview
ARID1A (AT-rich interactive domain-containing protein 1A) is a gene that encodes a subunit of the SWI/SNF chromatin remodeling complex, which is involved in regulating DNA accessibility. Mutations in ARID1A are implicated in various cancers, including B-cell lymphomas. They are the most abundant in Burkitt lymphoma but also occur in FL and, to a lesser extent, DLBCL. Overall, components of SWI/SNF have been identified as an emerging theme in germinal centre-derived B-cell lymphomas but their role has not been thoroughly elucidated.[@lunningMutationChromatinModifiers2015b]
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timeline
title Publication timing
2012-08-27 : Rossi : MZL
2012-12-01 : Love : BL
2013-01-01 : Zhang : DLBCL
2017-05-01 : Albuquerque : DLBCL
2017-01-26 : Krysiak : FL
2018-04-12 : Schmitz : DLBCL
2018-10-01 : Arthur : DLBCL
2019-12-10 : Wienand : PMBL
Relevance tier by entity
Entity | Tier | Description |
---|---|---|
1 | high-confidence PMBL/cHL/GZL gene[@wienandGenomicAnalysesFlowsorted2019b] | |
1 | high-confidence MZL gene[@rossiCodingGenomeSplenic2012c] | |
1 | high-confidence BL gene [@loveGeneticLandscapeMutations2012] | |
1 | high-confidence DLBCL gene[@zhangGeneticHeterogeneityDiffuse2013; @reddyGeneticFunctionalDrivers2017; @hubschmannMutationalMechanismsShaping2021b] | |
1 | high-confidence FL gene [@krysiakRecurrentSomaticMutations2017b] |
Mutation incidence in large cohorts
Entity | source | frequency (%) |
---|---|---|
BL | GAMBL genomes+capture | 28.64 |
BL | Thomas cohort | 36.00 |
BL | Panea cohort | 19.80 |
DLBCL | GAMBL genomes | 8.80 |
DLBCL | Schmitz cohort | 8.94 |
DLBCL | Reddy cohort | 4.40 |
DLBCL | Chapuy cohort | 4.27 |
FL | GAMBL genomes | 12.47 |
Mutation pattern and selective pressure estimates
Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
---|---|---|---|---|
BL | No | Yes | 3.218 | 130.201 |
DLBCL | No | Yes | 2.364 | 38.689 |
FL | No | Yes | 3.794 | 248.722 |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38