Associated Genetic Biomarkers
Associated Diseases


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

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 8.77% 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 (5.58%), ARID1A Missense (2.93%), ARID1A Nonsense (2.61%), ARID1A Loss (0.23%), and ARID1A Fusion (0.20%) [3].

ARID1A GENIE Cases - Top Alterations

Significance of ARID1A in Diseases

Malignant Solid Tumor +

Prostate Adenocarcinoma +

Prostate Carcinoma +

Breast Carcinoma +

Primary Peritoneal Carcinoma +

Ovarian Carcinoma +

Endometrial Endometrioid Adenocarcinoma +

Endometrial Carcinoma +

Urothelial Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Cervical Carcinoma +

Colorectal Carcinoma +

Non-Hodgkin Lymphoma +

Small Cell Lung Carcinoma +

Fallopian Tube Carcinoma +

Ovarian Clear Cell Adenocarcinoma +

Malignant Ovarian Clear Cell Tumor +

Ovarian Endometrioid Adenocarcinoma +

Bladder Urothelial Carcinoma +

Melanoma +

Diffuse Large B-Cell Lymphoma +

Malignant Ovarian Epithelial Tumor +

Non-Small Cell Lung Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Pancreatic Carcinoma +

Soft Tissue Sarcoma +

Gastrointestinal Stromal Tumor +

Urethral Urothelial Carcinoma +

Bladder Carcinoma +

Malignant Ovarian Endometrioid Tumor +

Gastric Adenocarcinoma +

Gastric Carcinoma +

Malignant Gastric Neoplasm +

Malignant Female Reproductive System Neoplasm +

Endometrial Clear Cell Adenocarcinoma +

Malignant Small Intestinal Neoplasm +

Biliary Tract Carcinoma +

Cholangiocarcinoma +

Follicular Lymphoma +

Malignant Esophagogastric Neoplasm +

Cervical Adenocarcinoma +

Esophageal Adenocarcinoma +

Epithelioid Sarcoma +

Esophageal Carcinoma +

Uterine Corpus Carcinosarcoma +

Malignant Intestinal Neoplasm +

Ovarian Carcinosarcoma +

Ampulla Of Vater Carcinoma +

Cancer +

Sarcomatoid Carcinoma +

Lymphoma +

Pancreatic Adenocarcinoma +

Anal Carcinoma +

Cervical Squamous Cell Carcinoma +

Clear Cell Renal Cell Carcinoma +

Rhabdoid Tumor +

High Grade Ovarian Serous Adenocarcinoma +

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

Leiomyosarcoma +

Uveal Melanoma +

Mantle Cell Lymphoma +

Malignant Soft Tissue Neoplasm +

Pleural Mesothelioma +

Peritoneal Mesothelioma +

Synovial Sarcoma +

Osteosarcoma +

Fallopian Tube Clear Cell Adenocarcinoma +

Ovarian Small Cell Carcinoma, Hypercalcemic Type +

Penile Carcinoma +

Primary Peritoneal Clear Cell Carcinoma +

Renal Pelvis Urothelial Carcinoma +

Ureter Urothelial Carcinoma +

Vaginal Carcinoma +

Vulvar Carcinoma +


1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015.

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 8. 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.