Table of Contents

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
PMBL 2 Role of HIST1H2BC mutations in PMBL requires confirmation

Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

Entity Collection N mutated Incidence 95% CI
DLBCL GAMBL without Reddy 1,089 51 0.0468 [0.0343,0.0594]
DLBCL GAMBL with Reddy 2,088 94 0.0450 [0.0361,0.0539]
DLBCL BC 231 3 0.0130 [0,0.0276]
DLBCL Dana-Farber 303 17 0.0561 [0.0302,0.082]
DLBCL NCI 470 26 0.0553 [0.0347,0.076]
DLBCL Reddy 999 43 0.0430 [0.0305,0.0556]
DLBCL DLBCL_ICGC 85 5 0.0588 [0.0088,0.1088]

BL

pathology Collection N mutated Incidence CI
BL GAMBL without Panea 309 4 0.0128 [3e-04,0.0254]
BL GAMBL without ICGC/Zhou 320 5 0.0152 [0.0018,0.0286]
BL GAMBL with Panea 410 6 0.0141 [0.0027,0.0254]
BL BLGSP 219 3 0.0137 [0,0.0291]
BL Zhou/ICGC 90 1 0.0111 [0,0.0328]
BL Panea 101 2 0.0198 [0,0.047]

FL

pathology Collection N mutated Incidence CI
FL GAMBL without Crouch 642 15 0.0234 [0.0117,0.035]
FL GAMBL with Crouch 1,189 28 0.0235 [0.0149,0.0322]
FL BC 379 11 0.0290 [0.0121,0.0459]
FL Kalmbach 164 1 0.0061 [0,0.018]
FL Crouch 547 13 0.0238 [0.011,0.0365]
FL FL_ICGC 99 3 0.0303 [0,0.0641]

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 2.5534 24.9115 1.000
FL 1.5623 6.6054 1.000
DLBCL 0.7397 1.5053 0.171

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

Visualizations

Protein

View coding variants in ProteinPaint hg19 or hg38

Genome

View all variants in GenomePaint hg19 or hg38

Expression

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

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.
Lohr JG, Stojanov P, Lawrence MS, Auclair D, Chapuy B, Sougnez C, Cruz-Gordillo P, Knoechel B, Asmann YW, Slager SL, Novak AJ, Dogan A, Ansell SM, Link BK, Zou L, Gould J, Saksena G, Stransky N, Rangel-Escareño C, Fernandez-Lopez JC, Hidalgo-Miranda A, Melendez-Zajgla J, Hernández-Lemus E, Schwarz-Cruz y Celis A, Imaz-Rosshandler I, Ojesina AI, Jung J, Pedamallu CS, Lander ES, Habermann TM, Cerhan JR, Shipp MA, Getz G, Golub TR. Discovery and prioritization of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencing. Proc Natl Acad Sci U S A. 2012 Mar 6;109(10):3879–3884. PMCID: PMC3309757
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.

Citing

If you use the information or data from this site, please cite

Krysta Coyle, Kostiantyn Dreval, Daniel Hodson and Ryan D. Morin. Audit of B-cell cancer genes. Blood Adv (2025) 9 (8): 2019–2031.

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