ARID1A

Chr 1AD

AT-rich interaction domain 1A

Also known as: B120, BAF250, BAF250a, BM029, C1orf4, CSS2, ELD, MRD14

This gene encodes a member of the SWI/SNF family, whose members have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. It possesses at least two conserved domains that could be important for its function. First, it has a DNA-binding domain that can specifically bind an AT-rich DNA sequence known to be recognized by a SNF/SWI complex at the beta-globin locus. Second, the C-terminus of the protein can stimulate glucocorticoid receptor-dependent transcriptional activation. It is thought that the protein encoded by this gene confers specificity to the SNF/SWI complex and may recruit the complex to its targets through either protein-DNA or protein-protein interactions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Coffin-Siris syndrome 2MIM #614607
AD

Clinical highlights

Gene-disease validity (ClinGen)
Coffin-Siris syndrome · ADDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
11
Active trials
503
Pubs (1 yr)
P/LP submissions
P/LP missense
0.07
LOEUF· LoF intol.
LOF
Mechanism· G2P
📖
GeneReview available — ARID1A
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Dual constrained — LoF & missense intolerant
LoF Constraint?
0.07LOEUF
pLI 1.000
Z-score 8.55
OE 0.02 (0.010.07)
Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint?
3.66Z-score
OE missense 0.70 (0.660.74)
823 obs / 1176.0 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?
LoF OE?0.02 (0.010.07)
00.351.4
Missense OE?0.70 (0.660.74)
00.61.4
Synonymous OE?1.08
01.21.6
LoF obs/exp: 2 / 89.0Missense obs/exp: 823 / 1176.0Syn Z: -1.27

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ARID1A · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

Solid Tumor MalignanciesClear Cell Endometrial CarcinomaOvarian Cancer

Efficacy and Safety of the Valemetostat in Patients With Selected Solid Tumors.

RECRUITING
NCT07303387Phase PHASE2Gustave Roussy, Cancer Campus, Grand ParisStarted 2026-03-05
Valemetostat Tosylate
Metastatic or Locally Advanced Unresectable Solid Tumors

Study of Tuvusertib (M1774) in Combination With DNA Damage Response Inhibitor or Immune Checkpoint Inhibitor (DDRiver Solid Tumors 320)

ACTIVE NOT RECRUITING
NCT05396833Phase PHASE1EMD Serono Research & Development Institute, Inc.Started 2022-06-07
TuvusertibLartesertibAvelumab
Gynaecological Cancers

ATr Inhibitor in Combination With Olaparib/Durvalumab (MEDI4736) in Gynaecological Cancers With ARId1A Loss or no Loss

ACTIVE NOT RECRUITING
NCT04065269Phase PHASE2Institute of Cancer Research, United KingdomStarted 2019-11-27
CeralasertibOlaparibDurvalumab
Uroepithelial Carcinoma

Current Status of Diagnosis and Treatment of Uroepithelial Carcinoma

NOT YET RECRUITING
NCT06663735The First Affiliated Hospital of Xinxiang Medical CollegeStarted 2024-10-30
Locally Advanced Bladder Urothelial CarcinomaLocally Advanced Renal Pelvis Urothelial CarcinomaLocally Advanced Ureter Urothelial Carcinoma

ARID1A and/or KDM6A Mutation and CXCL13 Expression

ACTIVE NOT RECRUITING
NCT04953104Phase PHASE2M.D. Anderson Cancer CenterStarted 2021-09-21
Diagnostic Laboratory Biomarker AnalysisNivolumabRelatlimab
Endometrial CarcinomaSerous Carcinoma

Niraparib Monotherapy as Maintain and Recurrent Treatment of Endometrial Serous Carcinoma

RECRUITING
NCT04716686Phase PHASE2Shandong UniversityStarted 2021-06-01
Niraparib
Ovarian Clear Cell CarcinomaEndometrial CancerStomach Cancer Recurrent

TR115 in ARID1A-Mutated Advanced Solid Tumors

NOT YET RECRUITING
NCT07793318Phase PHASE2Tarapeutics Science Inc.Started 2026-09-20
TR115
Endometrial CancerARID1A Gene MutationRecurrent Endometrial Carcinoma

Avelumab and M1774 in ARID1A-mutated Endometrial Cancer

RECRUITING
NCT06518564Phase PHASE2Panagiotis Konstantinopoulos, MD, PhDStarted 2024-11-14
AvelumabM1774
Recurrent Endometrial CarcinomaRecurrent Endometrial Clear Cell AdenocarcinomaRecurrent Endometrial Endometrioid Adenocarcinoma

Testing Different Amounts of the Combination of Drugs M1774 and ZEN-3694 for the Treatment of Recurrent Ovarian and Endometrial Cancer

RECRUITING
NCT05950464Phase PHASE1National Cancer Institute (NCI)Started 2023-12-18
BET Bromodomain Inhibitor ZEN-3694Biopsy ProcedureBiospecimen Collection
Advanced Hepatocellular CarcinomaMetastatic Hepatocellular CarcinomaStage III Hepatocellular Carcinoma AJCC v8

Testing the Addition of an Anti-cancer Drug, Sapanisertib, to the Usual Chemotherapy Treatment (Cabozantinib) in Metastatic Liver Cell Cancer With a Change in Genes for the Protein β-Catenin, The SAPHIRE Trial

RECRUITING
NCT06811116Phase PHASE1, PHASE2National Cancer Institute (NCI)Started 2025-11-17
Biospecimen CollectionCabozantinib S-malateImaging Procedure
Solid TumorsER+ Breast CancerTriple Negative Breast Cancer, TNBC

JAB-2485 Activity in Adult Patients With Advanced Solid Tumors

RECRUITING
NCT05490472Phase PHASE1, PHASE2Jacobio Pharmaceuticals Co., Ltd.Started 2022-12-20
JAB-2485 (Aurora A inhibitor)JAB-2485 (Aurora A inhibitor)