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 |
|---|---|---|
| 1 | high-confidence PMBL/cHL/GZL gene | |
| 1 | high-confidence MZL gene | |
| 1 | high-confidence BL gene | |
| 1 | high-confidence DLBCL gene | |
| 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
View all variants in GenomePaint hg19 or hg38
## ARID1A
Expression


