DDX3X
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @mottokIntegrativeGenomicAnalysis2019, @schmitzBurkittLymphomaPathogenesis2012, @reddyGeneticFunctionalDrivers2017, @schmitzGeneticsPathogenesisDiffuse2018, @arthurGenomewideDiscoverySomatic2018
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Mutations in the DDX3X gene, which encodes an RNA helicase involved in various aspects of RNA metabolism, have significant implications in B-cell lymphomas, including BL, DLBCL, and other related malignancies and are particularly enriched within MYC-translocated tumors and those expressing the dark zone signature (DZsig).[@ennishiDoubleHitGeneExpression2019] These mutations are predominantly loss-of-function (LOF) mutations, affecting the helicase domain of the protein. Missense mutations are predominantly found in male patients and rarely in females, hence showing a sex-specific pattern.[@gongSequentialInverseDysregulation2021]
Driver mutations affecting this gene in DLBCL/BL have been experimentally demonstrated to cause a reduction or loss of function (LOF).[@gongSequentialInverseDysregulation2021]
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chrX | 42800580 | 42804184 | intergenic | NA |
include:tables/browser_DDX3X.md
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