HIST1H2AM

Table of Contents

Overview
Relevance tier by entity
Warnings
Mutation incidence in large patient cohorts (GAMBL reanalysis)
- DLBCL
- BL
- FL
Mutation pattern and selective pressure estimates
HIST1H2AM Hotspots
History
References

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
	3	Mutations are unlikely to be relevant to BL
	1	High-confidence DLBCL gene
	1	High-confidence FL gene

Warnings

The variants reported in this gene in BL failed QC

See below or the study page for more information

Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

Entity	Collection	N	mutated	Incidence	95% CI
DLBCL	GAMBL without Reddy	1,089	63	0.0579	[0.044,0.0717]
DLBCL	GAMBL with Reddy	2,088	111	0.0532	[0.0435,0.0628]
DLBCL	BC	231	9	0.0390	[0.014,0.0639]
DLBCL	Dana-Farber	303	19	0.0627	[0.0354,0.09]
DLBCL	NCI	470	27	0.0574	[0.0364,0.0785]
DLBCL	Reddy	999	48	0.0480	[0.0348,0.0613]
DLBCL	DLBCL_ICGC	85	8	0.0941	[0.032,0.1562]

BL

pathology	Collection	N	mutated	Incidence	CI
BL	GAMBL without Panea	309	5	0.0154	[0.0017,0.0291]
BL	GAMBL without ICGC/Zhou	320	7	0.0208	[0.0052,0.0364]
BL	GAMBL with Panea	410	8	0.0175	[0.0048,0.0302]
BL	BLGSP	219	4	0.0183	[5e-04,0.036]
BL	Zhou/ICGC	90	1	0.0111	[0,0.0328]
BL	Panea	101	3	0.0297	[0,0.0628]

FL

pathology	Collection	N	mutated	Incidence	CI
FL	GAMBL without Crouch	642	19	0.0296	[0.0165,0.0427]
FL	GAMBL with Crouch	1,189	39	0.0328	[0.0227,0.0429]
FL	BC	379	15	0.0396	[0.0199,0.0592]
FL	Kalmbach	164	4	0.0244	[8e-04,0.048]
FL	Crouch	547	20	0.0366	[0.0208,0.0523]
FL	FL_ICGC	99	0	0.0010	[0,0.0073]

Mutation pattern and selective pressure estimates

Entity	Missense dN/dS	Nonsense dN/dS	Q value
BL	3.1445	0.0000	1.0000
FL	2.4531	0.0000	1.0000
DLBCL	0.8527	1.2576	0.2353

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

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History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2017-01-26 : Krysiak : FL 2019-09-26 : Panea : BL

References

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

Panea R, Love C, Shingleton JR, Reddy A, Bailey J, Moormann A, Otieno J, Ong’echa J, Oduor C, Schroêder K, Masalu N, Chao N, Agajanian M, Major M, Fedoriw Y, Richards K, Rymkiewicz G, Miles R, Alobeid B, Bhagat G, Flowers C, Ondrejka S, Hsi E, Choi W, Au-Yeung R, Hartmann W, Lenz G, Meyerson H, Lin YY, Zhuang Y, Luftig M, Waldrop A, Dave T, Thakkar D, Sahay H, Li G, Palus B, Seshadri V, Kim S, Gascoyne R, Levy S, Mukhopadhyay M, Dunson D, Dave S. The whole genome landscape of Burkitt lymphoma subtypes. Blood. 2019;