HIST1H2BC

Relevance tier by entity

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

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
DLBCL GAMBL genomes 4.59
DLBCL Schmitz cohort 5.53
DLBCL Reddy cohort 4.30
DLBCL Chapuy cohort 5.56
FL GAMBL genomes 3.46

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL No No 2.806 35.161
DLBCL No No 1.712 0.000
FL No No 1.094 0.000

[!NOTE] First described in DLBCL in 2017 by Reddy A

## HIST1H2BC Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr6 26123951 C>T G61D
chr6 26123944 C>T M63I
chr6 26123917 C>G E72D
chr6 26123886 G>A H83Y
chr6 26123881 G>C Y84*
chr6 26123874 G>A R87C

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

image