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

Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

Entity Collection N mutated Incidence 95% CI
DLBCL GAMBL without Reddy 1,089 33 0.0303 [0.0201,0.0405]
DLBCL GAMBL with Reddy 2,088 59 0.0283 [0.0211,0.0354]
DLBCL BC 231 3 0.0130 [0,0.0276]
DLBCL Dana-Farber 303 11 0.0363 [0.0152,0.0574]
DLBCL NCI 470 15 0.0319 [0.016,0.0478]
DLBCL Reddy 999 26 0.0260 [0.0162,0.0359]
DLBCL DLBCL_ICGC 85 4 0.0471 [0.002,0.0921]

BL

pathology Collection N mutated Incidence CI
BL GAMBL without Panea 309 5 0.0035 [0,0.01]
BL GAMBL without ICGC/Zhou 320 7 0.0218 [0.0058,0.0378]
BL GAMBL with Panea 410 7 0.0043 [0,0.0107]
BL BLGSP 219 5 0.0228 [0.003,0.0426]
BL Zhou/ICGC 90 0 0.0011 [0,0.008]
BL Panea 101 2 0.0198 [0,0.047]

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 3.6659 39.9007 1.0000
FL 2.7856 14.2747 1.0000
DLBCL 0.5895 2.3983 0.0047

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 2018-04-12 : Schmitz : DLBCL

References

1.
Schmitz R, Wright GW, Huang DW, Johnson CA, Phelan JD, Wang JQ, Roulland S, Kasbekar M, Young RM, Shaffer AL, Hodson DJ, Xiao W, Yu X, Yang Y, Zhao H, Xu W, Liu X, Zhou B, Du W, Chan WC, Jaffe ES, Gascoyne RD, Connors JM, Campo E, Lopez-Guillermo A, Rosenwald A, Ott G, Delabie J, Rimsza LM, Tay Kuang Wei K, Zelenetz AD, Leonard JP, Bartlett NL, Tran B, Shetty J, Zhao Y, Soppet DR, Pittaluga S, Wilson WH, Staudt LM. Genetics and Pathogenesis of Diffuse Large B-Cell Lymphoma. N Engl J Med. 2018 Apr 12;378(15):1396–1407. PMCID: PMC6010183

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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