Overview

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

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 5.14% of all cancers with lung adenocarcinoma, colon adenocarcinoma, conventional glioblastoma multiforme, anaplastic astrocytoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence of alterations [3].

ATRX GENIE Cases - Top Diseases

The most common alterations in ATRX are ATRX Mutation (4.72%), ATRX Frameshift (0.99%), ATRX Nonsense (0.85%), ATRX Loss (0.21%), and ATRX Fusion (0.09%) [3].

ATRX GENIE Cases - Top Alterations

Significance of ATRX in Diseases

Malignant Solid Tumor +

Prostate Adenocarcinoma +

Prostate Carcinoma +

Ovarian Carcinoma +

Breast Carcinoma +

Cervical Carcinoma +

Colorectal Carcinoma +

Non-Hodgkin Lymphoma +

Primary Peritoneal Carcinoma +

Endometrial Carcinoma +

Non-Small Cell Lung Carcinoma +

Urothelial Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Cholangiocarcinoma +

Gastrointestinal Stromal Tumor +

Fallopian Tube Carcinoma +

Anaplastic Astrocytoma +

Anaplastic Oligoastrocytoma +

WHO Grade III Glioma +

Astrocytoma +

Leiomyosarcoma +

Vaginal Carcinoma +

Glioblastoma +

Small Cell Lung Carcinoma +

Melanoma +

Osteosarcoma +

Soft Tissue Sarcoma +

Anal Carcinoma +

Gliosarcoma +

Bladder Carcinoma +

Bladder Urothelial Carcinoma +

Malignant Intestinal Neoplasm +

Penile Carcinoma +

Malignant Small Intestinal Neoplasm +

Diffuse Large B-Cell Lymphoma +

Malignant Ovarian Epithelial Tumor +

High Grade Ovarian Serous Adenocarcinoma +

Gastric Carcinoma +

Malignant Gastric Neoplasm +

Esophageal Carcinoma +

Ampulla Of Vater Carcinoma +

Malignant Esophagogastric Neoplasm +

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

Uveal Melanoma +

Pancreatic Carcinoma +

Mesothelioma +

Pancreatic Adenocarcinoma +

Clear Cell Renal Cell Carcinoma +

Mantle Cell Lymphoma +

Histiocytic And Dendritic Cell Neoplasm +

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 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.