ARID1A Chromosome 1

AT-rich interaction domain 1A
224 variants 1 Drug Response 223 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
"AT-rich interaction domain containing|Armadillo like helical domain containing|BAF complex subunits"
Locus Type
gene with protein product
Location
1p36.11
Ensembl
ENSG00000117713
Associated Conditions (24)
AKT1 Inhibitor response
Colorectal cancer
Endometrial carcinoma
Inborn genetic diseases
ARID1A-related disorder
Intellectual disability
autosomal dominant 14
Marfanoid habitus and intellectual disability
Coffin-Siris syndrome
Autism spectrum disorder
Nonpapillary renal cell carcinoma
Clear cell carcinoma of kidney
Sarcoma
ARID1A-related BAFopathy
6 conditions
Astrocytoma
Ependymoma
Neurodevelopmental delay
Neoplasm
Malignant tumor of urinary bladder
+4 more conditions
Key Variants
All Variants (224)
RSID Category Clinical Significance Conditions
RS1553153231 Drug Response drug response AKT1 Inhibitor response, AKT1 Inhibitor response
RS1553149467 Health Risk association Colorectal cancer, Colorectal cancer
RS2522053584 Health Risk association Endometrial carcinoma, Endometrial carcinoma
RS1002160828 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1014331186 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1015322780 Health Risk Conflicting classifications of pathogenicity ARID1A-related disorder, Inborn genetic diseases, ARID1A-related disorder
RS1018092020 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 14, Intellectual disability
RS1025638460 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1030686989 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1057520224 Health Risk Conflicting classifications of pathogenicity
RS113718290 Health Risk Conflicting classifications of pathogenicity Marfanoid habitus and intellectual disability, Intellectual disability, autosomal dominant 14
RS1167372383 Health Risk Conflicting classifications of pathogenicity
RS1223970955 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1295137307 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 14, Coffin-Siris syndrome
RS1302313826 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1314991058 Health Risk Conflicting classifications of pathogenicity
RS1327610437 Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder, Autism spectrum disorder
RS1330309030 Health Risk Conflicting classifications of pathogenicity
RS1346716044 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139230162 Health Risk Conflicting classifications of pathogenicity ARID1A-related disorder, ARID1A-related disorder
RS1398628888 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140568310 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 14, Intellectual disability
RS1406378335 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1412101191 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141432631 Health Risk Conflicting classifications of pathogenicity Nonpapillary renal cell carcinoma, Inborn genetic diseases, Nonpapillary renal cell carcinoma
RS141992367 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142339356 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142755921 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1429977258 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143257313 Health Risk Conflicting classifications of pathogenicity ARID1A-related disorder, ARID1A-related disorder
RS146598030 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 14, ARID1A-related disorder
RS1466882490 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 14, ARID1A-related BAFopathy
RS1469429098 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149538231 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150076443 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150534917 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability, Inborn genetic diseases
RS1553145891 Health Risk Conflicting classifications of pathogenicity
RS1557569082 Health Risk Conflicting classifications of pathogenicity ARID1A-related disorder, ARID1A-related disorder
RS1557570075 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 14, Intellectual disability
RS1557619767 Health Risk Conflicting classifications of pathogenicity
RS1570539863 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199776442 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 14, Intellectual disability
RS199906671 Health Risk Conflicting classifications of pathogenicity
RS200920292 Health Risk Conflicting classifications of pathogenicity ARID1A-related disorder, Inborn genetic diseases, ARID1A-related disorder
RS200927747 Health Risk Conflicting classifications of pathogenicity ARID1A-related disorder, ARID1A-related disorder
RS201864573 Health Risk Conflicting classifications of pathogenicity ARID1A-related disorder, ARID1A-related disorder
RS201899604 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201904230 Health Risk Conflicting classifications of pathogenicity
RS2080267597 Health Risk Conflicting classifications of pathogenicity
RS2080267793 Health Risk Conflicting classifications of pathogenicity
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