HIST1H1E

Overview

This is one of several genes that encode linker histone proteins that are recurrently mutated in DLBCL and FL.1,2 Mutations are often found in the globular domain of the protein, which is critical for its interaction with DNA and other histone proteins. ## Relevance tier by entity

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

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
BL GAMBL genomes+capture 9.70
BL Thomas cohort 7.60
BL Panea cohort 19.80
DLBCL GAMBL genomes 18.55
DLBCL Schmitz cohort 17.87
DLBCL Reddy cohort 14.51
DLBCL Chapuy cohort 11.54
FL GAMBL genomes 12.93

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL No Yes 14.203 0.000
DLBCL No Yes 4.446 6.437
FL No Yes 10.043 0.000

[!NOTE] First described in BL in 2019 by Panea RI

## HIST1H1E Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr6 26157090 G>T A158S
chr6 26157096 A>C K160Q
chr6 26157096 A>G K160E
chr6 26157099 C>G P161A
chr6 26157099 C>T P161S
chr6 26157102 G>A A162T
chr6 26157105 G>A A163T
chr6 26157106 C>T A163V
chr6 26157108 G>A A164T
chr6 26157108 G>C A164P
chr6 26157109 C>G A164G
chr6 26157109 C>T A164V
chr6 26157112 C>G A165G
chr6 26157112 C>T A165V
chr6 26157114 G>A G166R
chr6 26157118 C>T A167V
chr6 26157121 A>T K168I
chr6 26157139 A>G K174R

View coding variants in ProteinPaint hg19 or hg38

image

View all variants in GenomePaint hg19 or hg38

image ## HIST1H1E Expression image