RB1

Relevance tier by entity

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

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
DLBCL GAMBL genomes 4.78
DLBCL Schmitz cohort 3.19
DLBCL Reddy cohort 1.60
DLBCL Chapuy cohort 3.85
MCL GAMBL genomes 0.47

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL No No 1.029 6.855
DLBCL No Yes 0.933 17.514
FL No No 1.890 0.000

[!NOTE] First described in DLBCL in 2013 by Morin RD. First described in MCL in 2014 by Zhang J

View coding variants in ProteinPaint hg19 or hg38

image

View all variants in GenomePaint hg19 or hg38

image