Overview

Location [1]
Xp11.4
Synonyms [1]
DDX14, MRXSSB, DBX, MRX102, DDX3, HLP2, CAP-Rf

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.

Significance of DDX3X in Diseases

Medulloblastoma +

Medulloblastoma, Non-WNT/Non-SHH +

Medulloblastoma, WNT-Activated +

Central Nervous System Embryonal Neoplasm +

Central Nervous System Ganglioneuroblastoma +

Central Nervous System Neuroblastoma +

Desmoplastic/Nodular Medulloblastoma +

Large Cell/Anaplastic Medulloblastoma +

Medulloblastoma With Extensive Nodularity +

Medulloblastoma, SHH-Activated +

Medulloepithelioma +

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 Glioma +

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 +

Glioblastoma +

High-Grade Glioma, NOS +

Intracranial Primitive Neuroectodermal Neoplasm +

Malignant Glioma +

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.