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.
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timeline
title Publication timing
2012-08-27 : Rossi : MZL
2012-12-01 : Love : BL
2013-01-01 : Zhang : DLBCL
2017-01-26 : Krysiak : FL
2019-12-10 : Wienand : PMBL
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
1 | high-confidence PMBL/cHL/GZL genewienandGenomicAnalysesFlowsorted2019b? |
 |
1 | high-confidence MZL generossiCodingGenomeSplenic2012c? |
 |
1 | high-confidence BL gene1 |
 |
1 | high-confidence DLBCL gene2 |
 |
1 | high-confidence FL genekrysiakRecurrentSomaticMutations2017b? |
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
1.
Love
C, Sun Z, Jima D, Li G, Zhang J, Miles R, Richards KL, Dunphy CH, Choi
WWL, Srivastava G, Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L,
Mann KP, Flowers CR, Naresh KN, Evens AM, Chadburn A, Gordon LI, Czader
MB, Gill JI, Hsi ED, Greenough A, Moffitt AB, McKinney M, Banerjee A,
Grubor V, Levy S, Dunson DB, Dave SS. The genetic landscape of mutations
in Burkitt lymphoma. Nat Genet. 2012 Dec;44(12):1321–1325.
PMCID: PMC3674561
2.
Zhang J, Grubor V, Love CL, Banerjee A,
Richards KL, Mieczkowski PA, Dunphy C, Choi W, Au WY, Srivastava G,
Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers C,
Naresh K, Evens A, Gordon LI, Czader M, Gill JI, Hsi ED, Liu Q, Fan A,
Walsh K, Jima D, Smith LL, Johnson AJ, Byrd JC, Luftig MA, Ni T, Zhu J,
Chadburn A, Levy S, Dunson D, Dave SS. Genetic heterogeneity of diffuse
large B-cell lymphoma. Proceedings of the
National Academy of Sciences of the United States of America.
2013;110:1398–1403. PMCID: PMC3557051