ACTG1

Relevance tier by entity

Entity Tier Description
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 (%)
DLBCL GAMBL genomes 5.35
DLBCL Schmitz cohort 7.45
DLBCL Reddy cohort 4.70
DLBCL Chapuy cohort 2.99
FL GAMBL genomes 3.00

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL Yes No 2.063 8.011
DLBCL Yes No 2.125 0.000
FL Yes No 8.128 0.000

aSHM regions

chr_name hg19_start hg19_end region regulatory_comment
chr17 79478289 79479959 intron NA

[!NOTE] First described in DLBCL in 2021 by Hübschmann D. First described in FL in 2021 by Hübschmann D

View coding variants in ProteinPaint hg19 or hg38

image

View all variants in GenomePaint hg19 or hg38

image ## ACTG1 Expression image