Overview

Location [1]
Xq21.1
Pathway
DNA damage/repair
Protein [2]
Transcriptional regulator ATRX
Synonyms [1]
ZNF-HX, JMS, XNP, RAD54, XH2, RAD54L, MRX52

Alpha thalassemia/mental retardation syndrome X-linked (ATRX) is a gene that encodes a protein that functions as a chromatin remodeling protein. ATRX mutated is associated with X-linked mental retardation. Missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as cancers of the central nervous system, endometrial cancer, and stomach cancer.

ATRX is altered in 5.35% of all cancers with malignant glioma, non-small cell lung carcinoma, sarcoma, colorectal adenocarcinoma, and melanoma having the greatest prevalence of alterations [3].

ATRX GENIE Cases - Top Diseases

The most common alterations in ATRX are ATRX Mutation (5.15%), ATRX Loss (0.17%), ATRX Deletion (0.09%), ATRX F2113Sfs*9 (0.04%), and ATRX Amplification (0.04%) [3].

ATRX GENIE Cases - Top Alterations

Significance of ATRX in Diseases

Malignant Solid Tumor +

Prostate Adenocarcinoma +

Breast Carcinoma +

Prostate Carcinoma +

Ovarian Carcinoma +

Urothelial Carcinoma +

Colorectal Carcinoma +

Non-Hodgkin Lymphoma +

Small Cell Lung Carcinoma +

Cervical Carcinoma +

Gastric Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Cholangiocarcinoma +

Astrocytoma +

Leiomyosarcoma +

Endometrial Carcinoma +

Osteosarcoma +

Anal Carcinoma +

Soft Tissue Sarcoma +

Squamous Cell Lung Carcinoma +

Bladder Carcinoma +

Non-Small Cell Lung Carcinoma +

Lung Adenocarcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Diffuse Large B-Cell Lymphoma +

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

Head And Neck Squamous Cell Carcinoma +

Pancreatic Adenocarcinoma +

Pancreatic Carcinoma +

Clear Cell Renal Cell Carcinoma +

Mesothelioma +

Fallopian Tube Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Mantle Cell Lymphoma +

Penile Carcinoma +

Peritoneal Carcinoma +

Uveal Melanoma +

Vaginal Carcinoma +

Vulvar Carcinoma +

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.