Overview

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

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 4.49% of all cancers with lung adenocarcinoma, conventional glioblastoma multiforme, colon adenocarcinoma, anaplastic astrocytoma, and astrocytoma 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 +

Prostate Carcinoma +

Ovarian Carcinoma +

Breast Carcinoma +

Primary Peritoneal Carcinoma +

Urothelial Carcinoma +

Cervical Carcinoma +

Non-Hodgkin Lymphoma +

Fallopian Tube Carcinoma +

Endometrial Carcinoma +

Non-Small Cell Lung Carcinoma +

Colorectal Carcinoma +

Cholangiocarcinoma +

Gastrointestinal Stromal Tumor +

Head And Neck Squamous Cell Carcinoma +

Anaplastic Oligoastrocytoma +

Anaplastic Astrocytoma +

Astrocytoma +

Leiomyosarcoma +

Glioblastoma +

Small Cell Lung Carcinoma +

Soft Tissue Sarcoma +

Melanoma +

Anal Carcinoma +

Osteosarcoma +

Bladder Carcinoma +

Bladder Urothelial Carcinoma +

Malignant Small Intestinal Neoplasm +

Malignant Intestinal Neoplasm +

Esophageal Carcinoma +

Diffuse Large B-Cell Lymphoma +

High Grade Ovarian Serous Adenocarcinoma +

Malignant Ovarian Epithelial Tumor +

Ovarian Serous Tumor +

Malignant Esophagogastric Neoplasm +

Gastric Carcinoma +

Malignant Gastric Neoplasm +

Kidney Carcinoma +

Pancreatic Adenocarcinoma +

Pancreatic Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Ampulla Of Vater Carcinoma +

Clear Cell Renal Cell Carcinoma +

Gliosarcoma +

Hepatocellular Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Mantle Cell Lymphoma +

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

Mesothelioma +

Penile Carcinoma +

Uveal Melanoma +

Vaginal Carcinoma +

Vulvar Carcinoma +

WHO Grade III Glioma +

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.