ARID1A is 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.

2024年12月24日 · ARID1A (AT-Rich Interaction Domain 1A) is a Protein Coding gene. Diseases associated with ARID1A include Coffin-Siris Syndrome 2 and Coffin-Siris Syndrome 1. Among its related pathways are Gene expression (Transcription) and MITF-M-dependent gene expression.

ARID1A gene alterations result in loss of function. It is the most commonly mutated member of the SWI/SNF complex, being aberrant in ∼6% of cancers overall, including ovarian clear cell cancers (∼45% of patients) and uterine endometrioid cancers (∼37%).

The ARID1A gene provides instructions for making a protein that forms one piece (subunit) of several different SWI/SNF protein complexes. Learn about this gene and related health conditions.

2023年9月1日 · Most ARID1A somatic mutations are frame-shift or nonsense mutations that contribute to mRNA decay and loss of protein expression 5% of ARID1A mutations are in-frame insertions or deletions (indels) that involve only a small …

ARID1A belongs to a class of chromatin regulatory proteins that function by maintaining accessibility at most promoters and enhancers, thereby regulating gene expression. The high frequency of ARID1A alterations in human cancers has highlighted its …

2024年5月15日 · ARID1A loss in tumor cells triggers anti-tumor immunity via R-loop-derived cytosolic DNA and activation of the STING-type I interferon pathway, defining a molecular mechanism underlying ARID1A mutant anti-tumor immunity and immunotherapy response observed clinically.

ARID1A regulates DNA repair through chromatin organization and its deficiency triggers DNA damage-mediated anti-tumor immune response. Treatments, prognostic factors, and genetic heterogeneity in advanced cholangiocarcinoma: A multicenter real-world study. Deep-targeted gene sequencing reveals ARID1A mutation as an important driver of glioblastoma.

2018年5月7日 · ARID1A (the AT-rich interaction domain 1A, also known as BAF250a) is one of the most commonly mutated genes in cancer 1, 2. The majority of ARID1A mutations are inactivating mutations and...

2020年1月13日 · We identify that ARID1A inactivating mutations are present at a high frequency in advanced endocrine-resistant ER + breast cancer. An epigenome CRISPR–CAS9 knockout (KO) screen identifies...