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FLASH GENE
Symbol ARID1A contributors: mct/npt/pgu - updated : 15-09-2016
HGNC name AT rich interactive domain 1A (SWI-like)
HGNC id 11110
ASSOCIATED DISORDERS
corresponding disease(s) CSSSA1A
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral   LOH    
in neuroblastoma
tumoral   deletion    
in lung adenocarcinoma cell line
tumoral somatic mutation      
in ovarian clear cell carcinoma
tumoral     --low  
occurs in a small but significant proportion of CRCs where it is strongly correlated with mismatch repair deficiency and other clinical and pathological features associated with somatic hypermethylation
tumoral     --low  
low ARID1A nuclear expression becomes more prevalent during the later stages of breast tumor progression
Susceptibility
Variant & Polymorphism with length polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • BAF250a-deficient mouse embryonic stem cells have been characterized and found to exhibit defects in self-renewal capacity and increased differentiation
  • Baf250a ablation in mouse second heart field (SHF) led to trabeculation defects in the right ventricle, ventricular septal defect, persistent truncus arteriosus, reduced myocardial proliferation, and embryonic lethality
  • disruption of Arid1a-DNA binding in mice results in embryonic lethality, with mutant embryos manifesting prominent defects in the heart and extraembryonic vasculature