Table of Contents

Overview

This is one of several genes that encode linker histone proteins that are recurrently mutated in DLBCL and FL.1,2 Mutations are often found in the globular domain of the protein, which is critical for its interaction with DNA and other histone proteins.

Mutations in this gene were first described in DLBCL in 2013 by Morin et al.3 Mutations were subsequently reported in FL in 2017 by Krysiak et al2 and in BL by Grande et al.4

Relevance tier by entity

Cannot include /table1_HIST1H1E - does not exist yet

Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

Entity Collection N mutated Incidence 95% CI
DLBCL GAMBL without Reddy 1,089 165 0.1515 [0.1302,0.1728]
DLBCL GAMBL with Reddy 2,088 310 0.1485 [0.1332,0.1637]
DLBCL BC 231 30 0.1299 [0.0865,0.1732]
DLBCL Dana-Farber 303 34 0.1122 [0.0767,0.1478]
DLBCL NCI 470 84 0.1787 [0.1441,0.2134]
DLBCL Reddy 999 145 0.1451 [0.1233,0.167]
DLBCL DLBCL_ICGC 85 17 0.2000 [0.115,0.285]

FL

pathology Collection N mutated Incidence CI
FL GAMBL without Crouch 642 71 0.1106 [0.0863,0.1349]
FL GAMBL with Crouch 1,189 134 0.1127 [0.0947,0.1307]
FL BC 379 45 0.1187 [0.0862,0.1513]
FL Kalmbach 164 16 0.0976 [0.0521,0.143]
FL Crouch 547 63 0.1152 [0.0884,0.1419]
FL FL_ICGC 99 10 0.1010 [0.0416,0.1604]

BL

pathology Collection N mutated Incidence CI
BL GAMBL without Panea 309 17 0.0507 [0.0263,0.0751]
BL GAMBL without ICGC/Zhou 320 34 0.0838 [0.0539,0.1137]
BL GAMBL with Panea 410 37 0.0639 [0.0406,0.0872]
BL BLGSP 219 14 0.0639 [0.0315,0.0963]
BL Zhou/ICGC 90 3 0.0333 [0,0.0704]
BL Panea 101 20 0.1980 [0.1203,0.2757]

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 12.1879 0.0000 0e+00
FL 4.3086 0.0000 0e+00
DLBCL 1.3881 2.2103 5e-04

HIST1H1E Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr6 26157090 G>T A158S
chr6 26157096 A>C K160Q
chr6 26157096 A>G K160E
chr6 26157099 C>G P161A
chr6 26157099 C>T P161S
chr6 26157102 G>A A162T
chr6 26157105 G>A A163T
chr6 26157106 C>T A163V
chr6 26157108 G>A A164T
chr6 26157108 G>C A164P
chr6 26157109 C>G A164G
chr6 26157109 C>T A164V
chr6 26157112 C>G A165G
chr6 26157112 C>T A165V
chr6 26157114 G>A G166R
chr6 26157118 C>T A167V
chr6 26157121 A>T K168I
chr6 26157139 A>G K174R

Cannot include /browser_HIST1H1E.md - does not exist yet

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2013-08-15 : Morin : DLBCL 2015-02-12 : Reichel : PMBL 2017-01-26 : Krysiak : FL 2019-03-21 : Grande : BL

References

1.
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
2.
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
3.
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
4.
Grande BM, Gerhard DS, Jiang A, Griner NB, Abramson JS, Alexander TB, Allen H, Ayers LW, Bethony JM, Bhatia K, Bowen J, Casper C, Choi JK, Culibrk L, Davidsen TM, Dyer MA, Gastier-Foster JM, Gesuwan P, Greiner TC, Gross TG, Hanf B, Harris NL, He Y, Irvin JD, Jaffe ES, Jones SJM, Kerchan P, Knoetze N, Leal FE, Lichtenberg TM, Ma Y, Martin JP, Martin MR, Mbulaiteye SM, Mullighan CG, Mungall AJ, Namirembe C, Novik K, Noy A, Ogwang MD, Omoding A, Orem J, Reynolds SJ, Rushton CK, Sandlund JT, Schmitz R, Taylor C, Wilson WH, Wright GW, Zhao EY, Marra MA, Morin RD, Staudt LM. Genome-wide discovery of somatic coding and noncoding mutations in pediatric endemic and sporadic Burkitt lymphoma. Blood. 2019;133(12):1313–1324. PMCID: PMC6428665
5.
Reichel J, Chadburn A, Rubinstein PG, Giulino-Roth L, Tam W, Liu Y, Gaiolla R, Eng K, Brody J, Inghirami G, Carlo-Stella C, Santoro A, Rahal D, Totonchy J, Elemento O, Cesarman E, Roshal M. Flow sorting and exome sequencing reveal the oncogenome of primary Hodgkin and Reed-Sternberg cells. Blood. 2015 Feb 12;125(7):1061–1072.

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.

Disclaimer

The content in these pages has been populated, in part, by an automated process. Although we have scrutinized every page to ensure accuracy, errors will inevitably exist. If you find an error please report it as an issue and we will address it.

License

This work is licensed under a Creative Commons Attribution 4.0 International License.

You are free to:

Share — copy and redistribute the material in any medium or format for any purpose, even commercially.

Adapt — remix, transform, and build upon the material for any purpose, even commercially. The licensor cannot revoke these freedoms as long as you follow the license terms.