{"entity":{"id":"arid1a","kind":"target","name":"ARID1A","aka":["AT-rich interaction domain 1A","AT-rich interactive domain-containing protein 1A","B120","P270","C10rf4","BAF250","BAF250a","C1orf4","SMARCF1"],"tldr":"ARID1A (AT-rich interactive domain-containing protein 1A) is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Bladder & urothelial cancer, Colorectal cancer, Endometrial cancer and 5 more.","summary":"Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Binds DNA non-specifically.\n\nCIViC holds 14 clinical evidence items and 0 assertions across 7 variants, naming Dasatinib, Sorafenib, Nivolumab and Pembrolizumab and others. Open Targets scores its association with cancer at 0.85 (direct and indirect evidence; datatypes literature 1.00, affected pathway 0.89, genetic association 0.57, somatic mutation 0.98). IntOGen calls it a driver in 90 cohorts (1 activating, 89 loss-of-function), covering Burkitt Lymphoma, Bladder Urothelial Carcinoma, Invasive Breast Carcinoma, Renal Clear Cell Carcinoma, Cervical Squamous Cell Carcinoma, Cholangiocarcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11110","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11110"},{"label":"UniProt O14497","url":"https://www.uniprot.org/uniprotkb/O14497/entry"},{"label":"NCBI Gene 8289","url":"https://www.ncbi.nlm.nih.gov/gene/8289"},{"label":"Ensembl ENSG00000117713","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000117713"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["urothelial","colorectal","endometrial","gastric","breast-cancer","lung-cancer","hcc","non-hodgkin-lymphoma","pancreatic","gallbladder"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["swi-snf-chromatin"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-sausen-ctdna-pancreatic-resection-nat-commun-2015","paper-biankin-pancreatic-exomes-axon-guidance-nature-2012","paper-tcga-pancreatic-integrated-characterisation-cancer-cell-2017","paper-javle-biliary-ngs-cancer-2016","paper-suryavanshi-indian-gallbladder-genomics-jco-go-2025","paper-narayan-gallbladder-regional-mutations-cancer-2019","paper-wardell-biliary-drivers-germline-j-hepatol-2018"],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 6 therapies; IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 89 cohorts; CIViC holds 14 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Ovarian Clear Cell Carcinoma; Ovarian Clear Cell Adenocarcinoma; Low-Grade Glioma, NOS.","Pancreatic ductal adenocarcinoma: inactivating mutations in 5 to 9%, alongside KMT2C, KMT2D, SMARCA4, PBRM1 and ARID2 (cBioPortal). Chromatin-regulating gene mutations were present in about 20% of patients and associated with improved survival (Sausen 2015); ARID1A was among the significantly mutated genes of the first exome cohorts (Biankin 2012, Cancer Genome Atlas 2017).","Colorectal cancer: inactivating mutation in 9 to 13%, named a new driver by the TCGA analysis (Cancer Genome Atlas Network 2012), and overwhelmingly a hypermutated-class event (65.2% of MSI-high against 6.3% of microsatellite-stable samples in crc_msk_2026), alongside KMT2D and KMT2C."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ARID1A","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:11110","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11110","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O14497","url":"https://www.uniprot.org/uniprotkb/O14497/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ARID1A","url":"https://civicdb.org/features/6559","note":"14 evidence items, 0 assertions, 7 variants; diseases: Ovarian Clear Cell Carcinoma, Colorectal Cancer, Ovarian Cancer, Stomach Cancer, Diffuse Large B-cell Lymphoma and 4 more (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000117713","url":"https://platform.opentargets.org/target/ENSG00000117713/associations","note":"association with cancer (MONDO_0004992) 0.85; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.65, colorectal cancer 0.74, gastric cancer 0.69, oesophageal cancer 0.62, hepatocellular carcinoma 0.67, cholangiocarcinoma 0.53 (GraphQL API, CC0)"},{"label":"IntOGen ARID1A","url":"https://www.intogen.org/search?gene=ARID1A","note":"driver in 90 cohorts (Act 1, LoF 89); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA ARID1A: RNA low tissue specificity; high antibody staining in 14 normal tissues; highest cancer staining head and neck cancer (2 of 4 high). Distribution: 9 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Biliary tract cancer (all types), Bladder & urothelial cancer, Colorectal cancer, Endometrial cancer, Gastric & gastro-oesophageal junction cancer, Breast cancer (all types), Lung cancer (all types) and more); Open Targets associates it with 13 specific cancer types at or above 0.5 (urinary bladder cancer, hepatocellular carcinoma, urinary bladder carcinoma, gastric adenocarcinoma, colorectal adenocarcinoma, breast adenocarcinoma and more). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt O14497","url":"https://www.uniprot.org/uniprotkb/O14497/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ARID1A","url":"https://civicdb.org/features/6559","note":"14 evidence items, 0 assertions, 7 variants; diseases: Ovarian Clear Cell Carcinoma, Colorectal Cancer, Ovarian Cancer, Stomach Cancer, Diffuse Large B-cell Lymphoma and 4 more (GraphQL API, CC0)"},{"label":"IntOGen ARID1A","url":"https://www.intogen.org/search?gene=ARID1A","note":"driver in 90 cohorts (Act 1, LoF 89); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas ARID1A tissue","url":"https://www.proteinatlas.org/ENSG00000117713-ARID1A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000117713 associations","url":"https://platform.opentargets.org/target/ENSG00000117713/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11110","ensembl":"ENSG00000117713","uniprot":"O14497","entrez":"8289","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Takeuchi et al, Gene, 1997, \"Molecular cloning and expression of a novel human cDNA containing CAG repeats\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9434167/","biology":"Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Binds DNA non-specifically. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. Location: Nucleus (UniProt). Locus 1p36.11 (HGNC).","whereFound":["Bladder & urothelial cancer: Open Targets association 0.76 with urinary bladder cancer (MONDO_0001187); IntOGen driver in 9 cohorts (BLCA, UTUC)","Colorectal cancer: Open Targets association 0.74 with colorectal cancer (MONDO_0005575); CIViC evidence names this disease","Endometrial cancer: Open Targets association 0.72 with endometrial cancer (MONDO_0011962); IntOGen driver in 4 cohorts (UCEC)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.69 with gastric cancer (MONDO_0001056); CIViC evidence names this disease","Breast cancer: Open Targets association 0.68 with breast cancer (MONDO_0007254); IntOGen driver in 8 cohorts (BRCA)","Lung cancer: Open Targets association 0.68 with lung cancer (MONDO_0008903); IntOGen driver in 1 cohort (LUNG)","Pancreatic ductal adenocarcinoma: inactivating mutation (swi/snf and chromatin genes) 5-9%","Colorectal cancer: inactivating mutation 9-13%","Gallbladder cancer: mutation (loss of function) 13-25%"],"targetClass":"transcription","prevalence":[{"cancerId":"pancreatic","pct":"5-9","measure":"Inactivating mutation (SWI/SNF and chromatin genes)","source":"https://www.cbioportal.org/study/summary?id=pdac_msk_2024","note":"cBioPortal: 204 of 2,336, 8.7%, in pdac_msk_2024; 35 of 395, 8.9%, in pancreas_msk_2024; 29 of 383, 7.6%, in paad_qcmg_uq_2016; 9 of 179, 5.0%, in paad_tcga_pan_can_atlas_2018; 8 of 140 in paad_cptac_2021; 7 of 109 in paad_utsw_2015. KMT2C 73, KMT2D 100, SMARCA4 52, PBRM1 32 and ARID2 30 of 2,336 in the same study. Chromatin-regulating gene mutations (MLL, MLL2, MLL3, ARID1A) in 20% of 101 patients were associated with improved survival (Sausen 2015); ARID1A was a significantly mutated gene in 99 exomes (Biankin 2012) and a recurrent gene in TCGA (Cancer Genome Atlas 2017)."},{"cancerId":"colorectal","pct":"9-13","measure":"Inactivating mutation","source":"https://www.cbioportal.org/study/summary?id=crc_msk_2026","note":"cBioPortal: 912 of 7,237, 12.6%, in crc_msk_2026; 104 of 1,134, 9.2%, in crc_msk_2017; 136 of 1,516, 9.0%, in crc_eo_2020; 58 of 534, 10.9%, in coadread_tcga_pan_can_atlas_2018; 67 of 619, 10.8%, in coadread_dfci_2016. KMT2D reads 805 of 7,237 and KMT2C 605 of 7,237 in the same study."},{"cancerId":"gallbladder","pct":"13-25","measure":"Mutation (loss of function)","source":"https://doi.org/10.1002/cncr.30254","note":"13% of 85 (Javle 2016); mutation in 50 of 244 samples, 20.5%, in cBioPortal gbc_mskcc_2022 and 26 of 103, 25.2%, in gbc_msk_2018; significantly lower in 376 Indian patients (Suryavanshi 2025) and absent from the 11 Japanese tumours in Narayan 2019; among the 32 significantly mutated biliary genes in Wardell 2018."}]},"route":"/targets/arid1a/","neighbours":{"collection":[{"id":"civic","kind":"collection","name":"CIViC","route":"/collections/civic/"},{"id":"intogen","kind":"collection","name":"IntOGen","route":"/collections/intogen/"},{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}],"cancer":[{"id":"urothelial","kind":"cancer","name":"Bladder & urothelial cancer","route":"/cancers/urothelial/"},{"id":"breast-cancer","kind":"cancer","name":"Breast cancer (all types)","route":"/cancers/breast-cancer/"},{"id":"colorectal","kind":"cancer","name":"Colorectal cancer","route":"/cancers/colorectal/"},{"id":"endometrial","kind":"cancer","name":"Endometrial cancer","route":"/cancers/endometrial/"},{"id":"gallbladder","kind":"cancer","name":"Gallbladder cancer","route":"/cancers/gallbladder/"},{"id":"gastric","kind":"cancer","name":"Gastric & gastro-oesophageal junction cancer","route":"/cancers/gastric/"},{"id":"hcc","kind":"cancer","name":"Hepatocellular carcinoma","route":"/cancers/hcc/"},{"id":"lung-cancer","kind":"cancer","name":"Lung cancer (all types)","route":"/cancers/lung-cancer/"},{"id":"non-hodgkin-lymphoma","kind":"cancer","name":"Non-Hodgkin lymphoma (all types)","route":"/cancers/non-hodgkin-lymphoma/"},{"id":"pancreatic","kind":"cancer","name":"Pancreatic ductal adenocarcinoma","route":"/cancers/pancreatic/"}],"pathway":[{"id":"swi-snf-chromatin","kind":"pathway","name":"SWI/SNF chromatin remodelling","route":"/pathways/swi-snf-chromatin/"}],"paper":[{"id":"paper-javle-biliary-ngs-cancer-2016","kind":"paper","name":"Biliary cancer: utility of next-generation sequencing for clinical management","route":"/key-papers/paper-javle-biliary-ngs-cancer-2016/"},{"id":"paper-sausen-ctdna-pancreatic-resection-nat-commun-2015","kind":"paper","name":"Clinical implications of genomic alterations in the tumour and circulation of pancreatic cancer patients","route":"/key-papers/paper-sausen-ctdna-pancreatic-resection-nat-commun-2015/"},{"id":"paper-tcga-colorectal-comprehensive-characterization-nature-2012","kind":"paper","name":"Comprehensive molecular characterization of human colon and rectal cancer","route":"/key-papers/paper-tcga-colorectal-comprehensive-characterization-nature-2012/"},{"id":"paper-bailey-molecular-subtypes-pancreatic-nature-2016","kind":"paper","name":"Genomic analyses identify molecular subtypes of pancreatic cancer","route":"/key-papers/paper-bailey-molecular-subtypes-pancreatic-nature-2016/"},{"id":"paper-wardell-biliary-drivers-germline-j-hepatol-2018","kind":"paper","name":"Genomic characterization of biliary tract cancers identifies driver genes and predisposing mutations","route":"/key-papers/paper-wardell-biliary-drivers-germline-j-hepatol-2018/"},{"id":"paper-suryavanshi-indian-gallbladder-genomics-jco-go-2025","kind":"paper","name":"Genomic profiling of Indian gallbladder carcinoma: mutational insights in a high-incidence population","route":"/key-papers/paper-suryavanshi-indian-gallbladder-genomics-jco-go-2025/"},{"id":"paper-tcga-pancreatic-integrated-characterisation-cancer-cell-2017","kind":"paper","name":"Integrated genomic characterization of pancreatic ductal adenocarcinoma","route":"/key-papers/paper-tcga-pancreatic-integrated-characterisation-cancer-cell-2017/"},{"id":"paper-biankin-pancreatic-exomes-axon-guidance-nature-2012","kind":"paper","name":"Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes","route":"/key-papers/paper-biankin-pancreatic-exomes-axon-guidance-nature-2012/"},{"id":"paper-zhu-population-specific-immunogenomics-gallbladder-cancer-mod-pathol-2025","kind":"paper","name":"Population-Specific Immunogenomic Alterations in Gallbladder Cancer and Prognostic Significance","route":"/key-papers/paper-zhu-population-specific-immunogenomics-gallbladder-cancer-mod-pathol-2025/"},{"id":"paper-narayan-gallbladder-regional-mutations-cancer-2019","kind":"paper","name":"Regional differences in gallbladder cancer pathogenesis: insights from a multi-institutional comparison of tumor mutations","route":"/key-papers/paper-narayan-gallbladder-regional-mutations-cancer-2019/"}]}}