HIST1H2BC

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. ## History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2017-01-26 : Krysiak : FL 2017-10-10 : Reddy : DLBCL 2019-09-05 : Mottok : PMBL

## Relevance tier by entity

Entity	Tier	Description
	2	relevance in PMBL/cHL/GZL not firmly established
	1	high-confidence DLBCL gene
	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	26123939	G>A	S65F
chr6	26123939	G>C	S65C
chr6	26123924	A>G	I70T
chr6	26123923	T>C	I70M
chr6	26123922	A>C	F71V
chr6	26123920	A>C	F71L
chr6	26123919	C>G	E72Q
chr6	26123919	C>T	E72K
chr6	26123917	C>G	E72D
chr6	26123916	G>C	R73G
chr6	26123916	G>A	R73C
chr6	26123915	C>T	R73H
chr6	26123904	C>T	E77K
chr6	26123903	T>C	E77G
chr6	26123901	C>T	A78T
chr6	26123901	C>A	A78S
chr6	26123900	G>A	A78V
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

## HIST1H2BC Expression ## References 1. Krysiak K, Gomez F, White BS, Matlock M, Miller CA, Trani L, Fronick CC, Fulton RS, Kreisel F, Cashen AF, Carson KR, Berrien-Elliott MM, Bartlett NL, Griffith M, Griffith OL, Fehniger TA. Recurrent somatic mutations affecting B-cell receptor signaling pathway genes in follicular lymphoma. Blood. 2017 Jan 26;129(4):473–483. PMCID: PMC5270390 2. Reddy A, Zhang J, Davis NS, Moffitt AB, Love CL, Waldrop A, Leppa S, Pasanen A, Meriranta L, Karjalainen-Lindsberg ML, Nørgaard P, Pedersen M, Gang AO, Høgdall E, Heavican TB, Lone W, Iqbal J, Qin Q, Li G, Kim SY, Healy J, Richards KL, Fedoriw Y, Bernal-Mizrachi L, Koff JL, Staton AD, Flowers CR, Paltiel O, Goldschmidt N, Calaminici M, Clear A, Gribben J, Nguyen E, Czader MB, Ondrejka SL, Collie A, Hsi ED, Tse E, Au-Yeung RKH, Kwong YL, Srivastava G, Choi WWL, Evens AM, Pilichowska M, Sengar M, Reddy N, Li S, Chadburn A, Gordon LI, Jaffe ES, Levy S, Rempel R, Tzeng T, Happ LE, Dave T, Rajagopalan D, Datta J, Dunson DB, Dave SS. Genetic and Functional Drivers of Diffuse Large B Cell Lymphoma. Cell. 2017 Oct;171(2):481-494.e15. 3. Mottok A, Hung SS, Chavez EA, Woolcock B, Telenius A, Chong LC, Meissner B, Nakamura H, Rushton C, Viganò E, Sarkozy C, Gascoyne RD, Connors JM, Ben-Neriah S, Mungall A, Marra MA, Siebert R, Scott DW, Savage KJ, Steidl C. Integrative genomic analysis identifies key pathogenic mechanisms in primary mediastinal large B-cell lymphoma. Blood. 2019 Sep 5;134(10):802–813. PMID: 31292115