SMARCA4

Relevance tier by entity

Entity Tier Description
BL 1 high-confidence BL gene
DLBCL 1 high-confidence DLBCL gene
FL 1 high-confidence FL gene
MCL 1 high-confidence MCL gene

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
BL GAMBL genomes+capture 22.63
BL Thomas cohort 17.80
BL Panea cohort 18.80
DLBCL GAMBL genomes 3.25
DLBCL Schmitz cohort 2.98
DLBCL Reddy cohort 3.30
DLBCL Chapuy cohort 2.14
FL GAMBL genomes 4.16
MCL GAMBL genomes 4.74

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL No Yes 13.014 7.632
DLBCL No No 3.876 0.000
FL No No 11.081 0.000

[!NOTE] First described in BL in 2012 by Love C. First described in DLBCL in 2013 by Zhang J. First described in FL in 2023 by Russler-Germain DA. First described in MCL in 2020 by Nadeu F

View coding variants in ProteinPaint hg19 or hg38

image

View all variants in GenomePaint hg19 or hg38

image ## SMARCA4 Expression image