DDX3X
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]
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timeline
title Publication timing
2012-10-04 : Schmitz : BL
2017-10-10 : Reddy : DLBCL
2018-04-12 : Schmitz : DLBCL
2018-10-01 : Arthur : DLBCL
2019-09-05 : Mottok : PMBL
| Entity | Tier | Description |
|---|---|---|
 |
1 | high-confidence PMBL/cHL/GZL gene[@mottokIntegrativeGenomicAnalysis2019b] |
 |
1 | high-confidence BL gene [@schmitzBurkittLymphomaPathogenesis2012] |
 |
1 | high-confidence DLBCL gene [@reddyGeneticFunctionalDrivers2017; @schmitzGeneticsPathogenesisDiffuse2018a; @arthurGenomewideDiscoverySomatic2018] |
 |
2 | Although recurrent, the relevance of mutations in FL is tenuous |
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 44.34 |
| BL | Thomas cohort | 48.70 |
| BL | Panea cohort | 39.60 |
| DLBCL | GAMBL genomes | 8.80 |
| DLBCL | Schmitz cohort | 4.68 |
| DLBCL | Reddy cohort | 4.50 |
| DLBCL | Chapuy cohort | 5.56 |
| FL | GAMBL genomes | 2.54 |
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | Yes | Yes | 19.270 | 125.826 |
| DLBCL | Yes | No | 3.193 | 8.744 |
| FL | Yes | No | 11.136 | 21.489 |
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chrX | 42800580 | 42804184 | intergenic | NA |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
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