Overview

Location [1]
Xp11.4
Protein [2]
ATP-dependent RNA helicase DDX3X
Synonyms [1]
MRX102, CAP-Rf, DDX3, HLP2, DDX14, DBX

DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked (DDX3X) is a gene that encodes a protein that belongs to the large DEAD-box protein family. The protein functions in the in the nucleus and the cytoplasm of the cell and exhibits ATP-dependent RNA helicase activity and RNA-independent ATPase activity. Missense mutations, nonsense mutations, silent mutations, and frameshift deletions are observed in cancers such as endometrial cancer, skin cancer, and stomach cancer.

DDX3X is altered in 0.66% of all cancers with diffuse large B-cell lymphoma, not otherwise specified, chronic lymphocytic leukemia/small lymphocytic lymphoma, follicular lymphoma, melanoma, and B-cell lymphoblastic leukemia/lymphoma having the greatest prevalence of alterations [3].

DDX3X GENIE Cases - Top Diseases

The most common alterations in DDX3X are DDX3X Mutation (1.16%), DDX3X Amplification (0.17%), DDX3X N22I (0.09%), DDX3X P568L (0.06%), and DDX3X F381_K387delins* (0.07%) [3].

DDX3X GENIE Cases - Top Alterations

Significance of DDX3X in Diseases

Medulloblastoma +

Medulloblastoma, Non-WNT/Non-SHH +

Desmoplastic/Nodular Medulloblastoma +

Large Cell/Anaplastic Medulloblastoma +

Central Nervous System Embryonal Neoplasm +

Central Nervous System Ganglioneuroblastoma +

Central Nervous System Neuroblastoma +

Medulloblastoma With Extensive Nodularity +

Medulloblastoma, SHH-Activated +

Medulloblastoma, WNT-Activated +

Medulloepithelioma +

Glioblastoma +

Malignant Glioma +

Diffuse Glioma +

Adenocarcinoma Of The Gastroesophageal Junction +

Anaplastic Astrocytoma +

Anaplastic Astrocytoma, IDH-Mutant +

Anaplastic Ependymoma +

Anaplastic Oligodendroglioma +

Anaplastic Oligodendroglioma, IDH-Mutant And 1p/19q-Codeleted +

Anaplastic Pleomorphic Xanthoastrocytoma +

Atypical Teratoid/Rhabdoid Tumor +

Diffuse Midline Glioma, H3 K27M-Mutant +

Embryonal Tumor With Multilayered Rosettes, C19MC-Altered +

Embryonal Tumor With Multilayered Rosettes, Not Otherwise Specified +

Ependymoma +

Ependymoma, RELA Fusion-Positive +

Esophageal Adenocarcinoma +

Esophageal Squamous Cell Carcinoma +

Gastric Adenocarcinoma +

Gastric Squamous Cell Carcinoma +

High-Grade Glioma, NOS +

Intracranial Primitive Neuroectodermal Neoplasm +

Pineoblastoma +

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.