ARID1A Chromosome 1
AT-rich interaction domain 1A
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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
RS1553153231
drug response
AKT1 Inhibitor response, AKT1 Inhibitor response
Drug Response
RS1553149467
association
Colorectal cancer, Colorectal cancer
Health Risk
RS2522053584
association
Endometrial carcinoma, Endometrial carcinoma
Health Risk
RS1002160828
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1014331186
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1015322780
Conflicting classifications of pathogenicity
ARID1A-related disorder, Inborn genetic diseases, ARID1A-related disorder
Health Risk
RS1018092020
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 14, Intellectual disability
Health Risk
RS1025638460
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1030686989
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1057520224
Conflicting classifications of pathogenicity
Health Risk
RS113718290
Conflicting classifications of pathogenicity
Marfanoid habitus and intellectual disability, Intellectual disability, autosomal dominant 14
Health Risk
RS1167372383
Conflicting classifications of pathogenicity
Health Risk
All Variants (224)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS781072025 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal dominant 14, Intellectual disability |
| RS869312956 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Intellectual disability, autosomal dominant 14 |
| RS879847893 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS892173376 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS905051930 | Health Risk | Conflicting classifications of pathogenicity | ARID1A-related disorder, ARID1A-related disorder |
| RS916869052 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS927444249 | Health Risk | Conflicting classifications of pathogenicity | ARID1A-related disorder, ARID1A-related disorder |
| RS933617964 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS951330386 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS953652494 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS997979656 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1026678745 | Health Risk | Likely pathogenic | ARID1A-related disorder, Ependymoma, ARID1A-related disorder |
| RS1064795682 | Health Risk | Likely pathogenic | — |
| RS1064796564 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 14, Intellectual disability |
| RS1085307923 | Health Risk | Likely pathogenic | — |
| RS1336228861 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1553153291 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 14, Intellectual disability |
| RS1553153770 | Health Risk | Likely pathogenic | — |
| RS1553153771 | Health Risk | Likely pathogenic | Coffin-Siris syndrome, Coffin-Siris syndrome |
| RS1553153783 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 14, Intellectual disability |
| RS1557612048 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 14, Intellectual disability |
| RS1570609440 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 14, ARID1A-related BAFopathy |
| RS1570622663 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 14, Intellectual disability |
| RS1570623368 | Health Risk | Likely pathogenic | — |
| RS2080284671 | Health Risk | Likely pathogenic | ARID1A-related disorder, ARID1A-related disorder |
| RS2081109271 | Health Risk | Likely pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS2081113293 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 14, Intellectual disability |
| RS2081174839 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 14, Intellectual disability |
| RS2081174999 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2124063841 | Health Risk | Likely pathogenic | — |
| RS2124087389 | Health Risk | Likely pathogenic | ARID1A-related BAFopathy, ARID1A-related BAFopathy |
| RS2124087488 | Health Risk | Likely pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS2124087634 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 14, Intellectual disability |
| RS2124114899 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 14, Intellectual disability |
| RS2124146737 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 14, Intellectual disability |
| RS2124151986 | Health Risk | Likely pathogenic | — |
| RS2124742621 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 14, ARID1A-related disorder |
| RS2124743589 | Health Risk | Likely pathogenic | — |
| RS2124792810 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 14, Intellectual disability |
| RS2521936399 | Health Risk | Likely pathogenic | — |
| RS2521936815 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 14, Intellectual disability |
| RS2521983222 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 14, Intellectual disability |
| RS2522045814 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 14, Intellectual disability |
| RS2525562224 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS797045264 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 14, Intellectual disability |
| RS879255270 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 14, Neoplasm |
| RS1057520585 | Health Risk | Pathogenic | — |
| RS1064794151 | Health Risk | Pathogenic | — |
| RS1064796010 | Health Risk | Pathogenic | — |
| RS1232964733 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 14, Neoplasm |