DDX3X

Relevance tier by entity

Entity Tier Description
BL 1-a aSHM target and high-confidence BL gene
DLBCL 1-a aSHM target and high-confidence DLBCL gene
FL 2-a aSHM target; Although recurrent, the relevance of mutations in FL is tenuous

Mutation incidence in large patient cohorts (GAMBL reanalysis)

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

Mutation pattern and selective pressure estimates

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

aSHM regions

chr_name hg19_start hg19_end region regulatory_comment
chrX 42800580 42804184 intergenic NA

[!NOTE] First described in BL in 2012 by Schmitz R. First described in DLBCL in 2018 by Schmitz R. First described in FL in 2023 by Dreval K

View coding variants in ProteinPaint hg19 or hg38

image

View all variants in GenomePaint hg19 or hg38

image