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

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Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

Entity Collection N mutated Incidence 95% CI
DLBCL GAMBL without Reddy 1,089 65 0.0597 [0.0456,0.0738]
DLBCL GAMBL with Reddy 2,088 99 0.0474 [0.0383,0.0565]
DLBCL BC 231 11 0.0476 [0.0202,0.0751]
DLBCL Dana-Farber 303 18 0.0594 [0.0328,0.086]
DLBCL NCI 470 29 0.0617 [0.0399,0.0835]
DLBCL Reddy 999 34 0.0340 [0.0228,0.0453]
DLBCL DLBCL_ICGC 85 7 0.0824 [0.0239,0.1408]

BL

pathology Collection N mutated Incidence CI
BL GAMBL without Panea 309 3 0.0032 [0,0.0095]
BL GAMBL without ICGC/Zhou 320 5 0.0152 [0.0018,0.0286]
BL GAMBL with Panea 410 5 0.0041 [0,0.0102]
BL BLGSP 219 3 0.0137 [0,0.0291]
BL Zhou/ICGC 90 0 0.0011 [0,0.008]
BL Panea 101 2 0.0198 [0,0.047]

FL

pathology Collection N mutated Incidence CI
FL GAMBL without Crouch 642 9 0.0140 [0.0049,0.0231]
FL GAMBL with Crouch 1,189 22 0.0185 [0.0108,0.0262]
FL BC 379 6 0.0158 [0.0033,0.0284]
FL Kalmbach 164 2 0.0122 [0,0.029]
FL Crouch 547 13 0.0238 [0.011,0.0365]
FL FL_ICGC 99 1 0.0101 [0,0.0298]

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 0.7989 0.0000 1e+00
FL 0.8145 7.1410 1e+00
DLBCL 0.5716 1.6677 2e-04

HIST1H2AC Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr6 26124549 G>T R30L
chr6 26124560 CTGCTCCG>- L34*
chr6 26124578 T>G Y40D
chr6 26124581 G>A A41T
chr6 26124690 C>G T77S
chr6 26124709 C>G H83Q
chr6 26124737 G>A E93K
chr6 26124740 C>G L94V
chr6 26124740 C>T L94F
chr6 26124767 A>G I103V
chr6 26124769 T>G I103M
chr6 26124770 G>A A104T
chr6 26124770 G>C A104P
chr6 26124771 C>G A104G
chr6 26124771 C>T A104V
chr6 26124791 A>G N111D
chr6 26124800 G>A A114T
chr6 26124819 A>G K120R
chr6 26124832 CC>TT H125Y

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Expression

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References

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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
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Morin RD, Mungall K, Pleasance E, Mungall AJ, Goya R, Huff RD, Scott DW, Ding J, Roth A, Chiu R, Corbett RD, Chan FC, Mendez-Lago M, Trinh DL, Bolger-Munro M, Taylor G, Hadj Khodabakhshi A, Ben-Neriah S, Pon J, Meissner B, Woolcock B, Farnoud N, Rogic S, Lim EL, Johnson NA, Shah S, Jones S, Steidl C, Holt R, Birol I, Moore R, Connors JM, Gascoyne RD, Marra MA. Mutational and structural analysis of diffuse large B-cell lymphoma using whole-genome sequencing. Blood. 2013 Aug 15;122(7):1256–1265. PMCID: PMC3744992

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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