Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8289
Gene name Gene Name - the full gene name approved by the HGNC.
AT-rich interaction domain 1A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ARID1A
Synonyms (NCBI Gene) Gene synonyms aliases
B120, BAF250, BAF250a, BM029, C1orf4, CSS2, ELD, MRD14, OSA1, P270, SMARCF1, hELD, hOSA1
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.11
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs375761808 A>G,T Likely-pathogenic Coding sequence variant, missense variant
rs387906845 C>T Pathogenic Coding sequence variant, stop gained
rs387906846 C>G,T Pathogenic Coding sequence variant, missense variant, stop gained
rs797045262 AGCAGCCTGGGCAACCCGCCGCCGCC>- Pathogenic Coding sequence variant, frameshift variant
rs797045263 G>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT001385 hsa-miR-1-3p pSILAC 18668040
MIRT004027 hsa-miR-101-3p Western blot 19008416
MIRT004027 hsa-miR-101-3p Western blot 19008416
MIRT004027 hsa-miR-101-3p Western blot 19008416
MIRT004027 hsa-miR-101-3p Western blot 19008416
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IDA 17363140
GO:0000785 Component Chromatin NAS 12192000
GO:0003677 Function DNA binding IDA 15640446, 23129809
GO:0003677 Function DNA binding IEA
GO:0003677 Function DNA binding NAS 10757798
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603024 11110 ENSG00000117713
Protein
UniProt ID O14497
Protein name AT-rich interactive domain-containing protein 1A (ARID domain-containing protein 1A) (B120) (BRG1-associated factor 250) (BAF250) (BRG1-associated factor 250a) (BAF250A) (Osa homolog 1) (hOSA1) (SWI-like protein) (SWI/SNF complex protein p270) (SWI/SNF-re
Protein function 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 chromati
PDB 1RYU , 6LTH , 6LTJ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01388 ARID 1019 1104 ARID/BRIGHT DNA binding domain Domain
PF12031 BAF250_C 1976 2231 SWI/SNF-like complex subunit BAF250/Osa Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in spleen, thymus, prostate, testis, ovary, small intestine, colon, and PBL, and at a much lower level in heart, brain, placenta, lung, liver, skeletal muscle, kidney, and pancreas. {ECO:0000269|PubMed:11073988, ECO:00
Sequence
MAAQVAPAAASSLGNPPPPPPSELKKAEQQQREEAGGEAAAAAAAERGEMKAAAGQESEG
PAVGPPQPLGKELQDGAESNGGGGGGGAGSGGGPGAEPDLKNSNGNAGPRPALNNNLTEP
PGGGGGGSSDGVGAPPHSAAAALPPPAYGFGQPYGRSPSAVAAAAAAVFHQQHGGQQSPG
LAALQSGGGGGLEPYAGPQQNSHDHGFPNHQYNSYYPNRSAYPPPAPAYALSSPRGGTPG
SGAAAAAGSKPPPSSSASASSSSSSFAQQRFGAMGGGGPSAAGGGTPQPTATPTLNQLLT
SPSSARGYQGYPGGDYSGGPQDGGAGKGPADMASQCWGAAAAAAAAAAASGGAQQRSHHA
PMSPGSSGGGGQPLARTPQPSSPMDQMGKMRPQPYGGTNPYSQQQGPPSGPQQGHGYPGQ
PYGSQTPQRYPMTMQGRAQSAMGGLSYTQQIPPYGQQGPSGYGQQGQTPYYNQQSPHPQQ
QQPPYSQQPPSQTPHAQPSYQQQPQSQPPQLQSSQPPYSQQPSQPPHQQSPAPYPSQQST
TQQHPQSQPPYSQPQAQSPYQQQQPQQPAPSTLSQQAAYPQPQSQQSQQTAYSQQRFPPP
QELSQDSFGSQASSAPSMTSSKGGQEDMNLSLQSRPSSLPDLSGSIDDLPMGTEGALSPG
VSTSGISSSQGEQSNPAQSPFSPHTSPHLPGIRGPSPSPVGSPASVAQSRSGPLSPAAVP
GNQMPPRPPSGQSDSIMHPSMNQSSIAQDRGYMQRNPQMPQYSSPQPGSALSPRQPSGGQ
IHTGMGSYQQNSMGSYGPQGGQYGPQGGYPRQPNYNALPNANYPSAGMAGGINPMGAGGQ
MHGQPGIPPYGTLPPGRMSHASMGNRPYGPNMANMPPQVGSGMCPPPGGMNRKTQETAVA
MHVAANSIQNRPPGYPNMNQGGMMGTGPPYGQGINSMAGMINPQGPPYSMGGTMANNSAG
MAASPEMMGLGDVKLTPATKMNNKADGTPKTESKSKKSSSSTTTNEKITKLYELGGEPER
KMWVDRYLAFTEEKAMGMTNLPAVGRKPLDLYRLYVSVKEIGGLTQVNKNKKWRELATNL
NVGTSSSAASSLKKQYIQCLYAFE
CKIERGEDPPPDIFAAADSKKSQPKIQPPSPAGSGS
MQGPQTPQSTSSSMAEGGDLKPPTPASTPHSQIPPLPGMSRSNSVGIQDAFNDGSDSTFQ
KRNSMTPNPGYQPSMNTSDMMGRMSYEPNKDPYGSMRKAPGSDPFMSSGQGPNGGMGDPY
SRAAGPGLGNVAMGPRQHYPYGGPYDRVRTEPGIGPEGNMSTGAPQPNLMPSNPDSGMYS
PSRYPPQQQQQQQQRHDSYGNQFSTQGTPSGSPFPSQQTTMYQQQQQNYKRPMDGTYGPP
AKRHEGEMYSVPYSTGQGQPQQQQLPPAQPQPASQQQAAQPSPQQDVYNQYGNAYPATAT
AATERRPAGGPQNQFPFQFGRDRVSAPPGTNAQQNMPPQMMGGPIQASAEVAQQGTMWQG
RNDMTYNYANRQSTGSAPQGPAYHGVNRTDEMLHTDQRANHEGSWPSHGTRQPPYGPSAP
VPPMTRPPPSNYQPPPSMQNHIPQVSSPAPLPRPMENRTSPSKSPFLHSGMKMQKAGPPV
PASHIAPAPVQPPMIRRDITFPPGSVEATQPVLKQRRRLTMKDIGTPEAWRVMMSLKSGL
LAESTWALDTINILLYDDNSIMTFNLSQLPGLLELLVEYFRRCLIEIFGILKEYEVGDPG
QRTLLDPGRFSKVSSPAPMEGGEEEEELLGPKLEEEEEEEVVENDEEIAFSGKDKPASEN
SEEKLISKFDKLPVKIVQKNDPFVVDCSDKLGRVQEFDSGLLHWRIGGGDTTEHIQTHFE
SKTELLPSRPHAPCPPAPRKHVTTAEGTPGTTDQEGPPPDGPPEKRITATMDDMLSTRSS
TLTEDGAKSSEAIKESSKFPFGISPAQSHRNIKILEDEPHSKDETPLCTLLDWQDSLAKR
CVCVSNTIRSLSFVPGNDFEMSKHPGLLLILGKLILLHHKHPERKQAPLTYEKEEEQDQG
VSCNKVEWWWDCLEMLRENTLVTLANISGQLDLSPYPESICLPVLDGLLHWAVCPSAEAQ
DPFSTLGPNAVLSPQRLVLETLSKLSIQDNNVDLILATPPFSRLEKLYSTMVRFLSDRKN
PVCREMAVVLLANLAQGDSLAARAIAVQKGSIGNLLGFLEDSLAATQFQQSQASLLHMQN
PPFEPTSVDMM
RRAARALLALAKVDENHSEFTLYESRLLDISVSPLMNSLVSQVICDVLF
LIGQS
Sequence length 2285
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  ATP-dependent chromatin remodeling
Thermogenesis
Hepatocellular carcinoma
  RMTs methylate histone arginines
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Coffin-Siris Syndrome Coffin-Siris syndrome 1, coffin-siris syndrome rs1553152590, rs797045262, rs1553153771, rs387906846 N/A
Mental retardation Intellectual disability, autosomal dominant 14 rs797045264, rs879255270, rs1553153291, rs1557591264, rs875989848, rs1557620758, rs1557570794, rs797045262, rs875989849, rs1557612048, rs1064796564, rs1570609440, rs387906845, rs1570622663, rs387906846
View all (6 more)
N/A
neoplasm Neoplasm rs879255270, rs875989848 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Astrocytoma astrocytoma N/A N/A ClinVar
autism spectrum disorder Autism spectrum disorder N/A N/A ClinVar
Breast Cancer Breast cancer Unexpectedly, ARID1A was also the top candidate in regard to response to the bromodomain and extraterminal domain inhibitor JQ1, but in the opposite direction, with loss of ARID1A sensitizing breast cancer cells to bromodomain and extraterminal domain inh 31913353 CBGDA
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
3C syndrome Associate 29135119
Adenocarcinoma Inhibit 22274316
Adenocarcinoma Associate 23525077, 28440661, 29189288, 31906887, 32572156, 34367146, 34725190, 34725203, 40101550
Adenocarcinoma Clear Cell Associate 37697729
Adenocarcinoma Mucinous Associate 26904685, 28440661, 33451982
Adenocarcinoma of Lung Associate 22975805, 22980975, 33608032, 36229854, 36869329, 37327699
Adenofibroma Associate 22157930
Adenomyosis Associate 36708516
Aneuploidy Associate 25963524
Anodontia Associate 31906887, 34042312, 37906351, 40281612