Associated Genetic Biomarkers
Associated Diseases

Overview

Location [1]
6q25.3
Protein [2]
AT-rich interactive domain-containing protein 1B
Synonyms [1]
6A3-5, BAF250B, BRIGHT, DAN15, P250R, CSS1, MRD12, OSA2, ELD/OSA1

AT rich interactive domain 1B (SWI 1-like) (ARID1B) is a gene that encodes a protein that is a component of the SWI/SNF chromatin remodeling complex. The protein functions in cell-cycle activation. Missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions and insertions are observed in cancers such as endometrial cancer, skin cancer, and stomach cancer.

ARID1B is altered in 4.18% of all cancers with lung adenocarcinoma, colon adenocarcinoma, breast invasive ductal carcinoma, endometrial endometrioid adenocarcinoma, and bladder urothelial carcinoma having the greatest prevalence of alterations [3].

ARID1B GENIE Cases - Top Diseases

The most common alterations in ARID1B are ARID1B Mutation (4.76%), ARID1B Loss (0.14%), ARID1B Amplification (0.08%), ARID1B A350dup (0.07%), and ARID1B G319dup (0.07%) [3].

ARID1B GENIE Cases - Top Alterations

Significance of ARID1B in Diseases

Melanoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. 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 6. 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.