HIST1H2AG

Relevance tier by entity

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

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
BL GAMBL genomes+capture 1.39
BL Thomas cohort 2.50
BL Panea cohort 1.00
DLBCL GAMBL genomes 3.44
DLBCL Schmitz cohort 3.62
DLBCL Reddy cohort 1.90
DLBCL Chapuy cohort 2.99
FL GAMBL genomes 2.08

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL No No 3.809 0
DLBCL No No 5.602 0
FL No No 0.405 0

[!NOTE] First described in BL in 2019 by Panea RI. First described in DLBCL in 2013 by Morin RD

## HIST1H2AG Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr6 27101075 G>T K75N
chr6 27101083 G>A R78H
chr6 27101100 C>G L84V
chr6 27101126 G>T E92D
chr6 27101130 C>G L94V

View coding variants in ProteinPaint hg19 or hg38

image

View all variants in GenomePaint hg19 or hg38

image ## HIST1H2AG Expression image