Biomarkers /
DDX3X
Overview
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].
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].
Clinical Trials
Significance of DDX3X in Diseases
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.