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.

[!NOTE] Mutations in this gene were first described in BL in 2012 by Love C and first described in DLBCL in 2013 by Zhang J

Relevance tier by entity

Entity Tier Description
BL 1 high-confidence BL gene
DLBCL 1 high-confidence DLBCL gene
FL 1 high-confidence FL gene

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

image

View all variants in GenomePaint hg19 or hg38

image ## ARID1A Expression image