HIST1H2AM

Overview

This gene encodes the H2A protein, one of the core proteins comprising nucleosomes. Although relatively common in DLBCL, little is known about the function of these mutations. ## Relevance tier by entity

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

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
DLBCL GAMBL genomes 5.93
DLBCL Schmitz cohort 5.74
DLBCL Reddy cohort 4.80
DLBCL Chapuy cohort 5.98
FL GAMBL genomes 3.70
BL GAMBL genomes+capture 1.85
BL Thomas cohort 1.70
BL Panea cohort 3.00

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
DLBCL No No 1.844 0
FL No No 1.845 0
BL No No 2.149 0

## HIST1H2AM Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr6 27860660 T>C N90D
chr6 27860658 G>C N90K
chr6 27860652 C>G E92D
chr6 27860652 C>A E92D
chr6 27860649 C>G E93D
chr6 27860648 G>C L94V
chr6 27860648 G>A L94F
chr6 27860644 T>C N95S
chr6 27860643 G>C N95K
chr6 27860640 C>G K96N
chr6 27860640 C>A K96N
chr6 27860639 G>C L97V
chr6 27860636 G>C L98V
chr6 27860636 G>A L98F
chr6 27860633 C>G G99R
chr6 27860632 C>G G99A
chr6 27860627 C>G V101L
chr6 27860627 C>T V101I
chr6 27860627 C>A V101F
chr6 27860624 T>A T102S
chr6 27860623 G>C T102S
chr6 27860623 G>A T102I
chr6 27860560 C>G S123T
chr6 27860559 G>C S123R
chr6 27860549 C>G A127P
chr6 27860548 G>C A127G
chr6 27860548 G>A A127V
chr6 27860542 C>T G129D
chr6 27860538 C>G K130N

View coding variants in ProteinPaint hg19 or hg38

image

View all variants in GenomePaint hg19 or hg38

image ## HIST1H2AM Expression image