Overview

Location [1]
1p36.11
Protein [2]
AT-rich interactive domain-containing protein 1A
Synonyms [1]
BAF250a, SMARCF1, hOSA1, B120, C1orf4, ELD, BM029, P270, MRD14, OSA1, hELD, CSS2, BAF250

AT rich interactive domain 1A (SWI-like) (ARID1A) is a gene that encodes a protein that is included in the SWI/SNF family and functions in the transcriptional activation of genes. Fusions, missense mutations, nonsense mutations, silent mutations, frameshift insertions and deletions, and in-frame insertions and deletions are observed in cancers such as biliary tract cancers, endometrial cancer, and intestinal cancer.

ARID1A is altered in 8.86% of all cancers with uterine corpus neoplasm, non-small cell lung carcinoma, breast carcinoma, colorectal adenocarcinoma, and bladder carcinoma having the greatest prevalence of alterations [3].

ARID1A GENIE Cases - Top Diseases

The most common alterations in ARID1A are ARID1A Mutation (9.03%), ARID1A D1850Tfs*33 (0.18%), ARID1A Deletion (0.17%), ARID1A D1850Gfs*4 (0.17%), and ARID1A Loss (0.16%) [3].

ARID1A GENIE Cases - Top Alterations

Significance of ARID1A in Diseases

Malignant Solid Tumor +

Cholangiocarcinoma +

Gastric Adenocarcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Esophageal Adenocarcinoma +

Clear Cell Renal Cell Carcinoma +

Leiomyosarcoma +

Uveal Melanoma +

Osteosarcoma +

Mesothelioma +

Cancer +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20170629. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 4. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.