ARID1B wt Allele

Preferred Label : ARID1B wt Allele;

NCIt synonyms : CSS1; OSA2; P250R; ELD/OSA1; 6A3-5; BRIGHT; KIAA1235; DAN15; BAF250B; RP11-419L10.1; MRD12; BAF-Associated Factor, 250-kD, B Gene; AT-Rich Interactive Domain 1B wt Allele; AT Rich Interactive Domain 1B (SWI1-Like) Gene;

NCIt definition : Human ARID1B wild-type allele is located in the vicinity of 6q25.1 and is approximately 433 kb in length. This allele, which encodes AT-rich interactive domain-containing protein 1B, is involved in both cell type-specific transcriptional regulation and chromatin remodeling.;

NCIt note : Somatic mutation of the ARID1B gene may be associated with breast cancer. (Nature. 2012; 485:doi:10.1038/nature11017.);

GenBank Accession Number : AF521671;

Details

Origin ID

C102521;

UMLS CUI

C3539536;

Automatic exact mappings (from CISMeF team)
- AT-rich interaction domain 1B [ORDO Gene]
- Above average intellect (finding) [SNOMED CT concept]
- At-rich interaction domain-containing protein 1b [OMIM gene]
- Chondroitin sulfate synthase 1 [OMIM gene]
- Coffin-Siris syndrome 1 [DO Concept]
- Mental retardation, autosomal dominant 12 [OMIM Phenotype]
- brightness [IUPAC Term]
- brightness [IUPAC Term]
- chondroitin sulfate synthase 1 [ORDO Gene]
- hyperechoic [Radlex concept]
OMIM relation
- At-rich interaction domain-containing protein 1b [OMIM gene]
See also inter- (CISMeF)
- Coffin-siris syndrome 1 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 6q25.1 [NCIt concept]
gene_plays_role_in_process
- Chromatin Remodeling [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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