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rdmorin edited this page Jul 3, 2024 · 29 revisions

bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true

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
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Relevance tier by entity

Entity Tier Description
PMBL 1 high-confidence PMBL/cHL/GZL gene[@wienandGenomicAnalysesFlowsorted2019b]
MZL 1 high-confidence MZL gene[@rossiCodingGenomeSplenic2012c]
BL 1 high-confidence BL gene [@loveGeneticLandscapeMutations2012]
DLBCL 1 high-confidence DLBCL gene[@zhangGeneticHeterogeneityDiffuse2013; @reddyGeneticFunctionalDrivers2017; @hubschmannMutationalMechanismsShaping2021b]
FL 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

ARID1A Expression

References

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