Associated Genetic Biomarkers
Associated Diseases

Overview

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

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 7.53% of all cancers with endometrial endometrioid adenocarcinoma, lung adenocarcinoma, colon adenocarcinoma, bladder urothelial carcinoma, and breast invasive ductal 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 Frameshift (3.55%), ARID1A Nonsense (2.79%), ARID1A D1850Tfs*33 (0.18%), and ARID1A Deletion (0.17%) [3].

ARID1A GENIE Cases - Top Alterations

Significance of ARID1A in Diseases

Malignant Solid Tumor +

Prostate Adenocarcinoma +

Prostate Carcinoma +

Primary Peritoneal Carcinoma +

Ovarian Carcinoma +

Non-Hodgkin Lymphoma +

Breast Carcinoma +

Fallopian Tube Carcinoma +

Urothelial Carcinoma +

Cervical Carcinoma +

Endometrial Carcinoma +

Cholangiocarcinoma +

Malignant Ovarian Epithelial Tumor +

Colorectal Carcinoma +

Non-Small Cell Lung Carcinoma +

Diffuse Large B-Cell Lymphoma +

Pancreatic Carcinoma +

Small Cell Lung Carcinoma +

Clear Cell Renal Cell Carcinoma +

Gastrointestinal Stromal Tumor +

Adenocarcinoma Of The Gastroesophageal Junction +

Head And Neck Squamous Cell Carcinoma +

Uveal Melanoma +

Malignant Ovarian Clear Cell Tumor +

Endometrial Endometrioid Adenocarcinoma +

Bladder Urothelial Carcinoma +

Ovarian Endometrioid Tumor +

Endometrial Clear Cell Adenocarcinoma +

Malignant Female Reproductive System Neoplasm +

Biliary Tract Carcinoma +

Gastric Adenocarcinoma +

Gastric Carcinoma +

Malignant Gastric Neoplasm +

Cervical Adenocarcinoma +

Malignant Small Intestinal Neoplasm +

Follicular Lymphoma +

Malignant Esophagogastric Neoplasm +

Esophageal Adenocarcinoma +

Hepatocellular Carcinoma +

Esophageal Carcinoma +

Malignant Intestinal Neoplasm +

Melanoma +

Cancer +

Uterine Corpus Carcinosarcoma +

Pancreatic Adenocarcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Kidney Carcinoma +

Ovarian Serous Tumor +

Leiomyosarcoma +

Soft Tissue Sarcoma +

Ampulla Of Vater Carcinoma +

Anal Carcinoma +

Cervical Squamous Cell Carcinoma +

Fallopian Tube Clear Cell Adenocarcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Mantle Cell Lymphoma +

Mature T-Cell And NK-Cell Non-Hodgkin Lymphoma +

Mesothelioma +

Osteosarcoma +

Ovarian Carcinosarcoma +

Ovarian Clear Cell Adenocarcinoma +

Penile Carcinoma +

Vaginal Carcinoma +

Vulvar Carcinoma +

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.