[CXCR4]

Mutation tier

Entity Tier Description
BL 2 relevance in BL not firmly established
DLBCL 1 high-confidence DLBCL gene
FL 2 relevance in FL not firmly established

Mutation incidence

Entity source frequency (%)
BL GAMBL genomes+capture 2.08
BL Thomas cohort 2.10
BL Panea cohort 2.00
DLBCL GAMBL genomes 2.87
DLBCL Schmitz cohort 2.60
DLBCL Reddy cohort 1.50
DLBCL Chapuy cohort 2.60
FL GAMBL genomes 3.46

Mutation pattern

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL Yes No 4.603 0.000
DLBCL Yes No 3.731 18.727
FL Yes No 0.000 0.000

aSHM regions

chr_name hg19_start hg19_end region regulatory_comment
chr2 136874728 136875461 intron weak_promoter

[!NOTE] First described in BL in 2019 by Panea RI. First described in DLBCL in 2012 by Khodabakhshi AH. First described in FL in 2021 by Hübschmann D

View coding variants in ProteinPaint hg19 or hg38

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View all variants in GenomePaint hg19

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