HIST1H1E
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.
History
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 al4 and in BL by Grande et al.5
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timeline
title Publication timing
2013-08-15 : Morin : DLBCL
2015-02-12 : Reichel : PMBL
2017-01-26 : Krysiak : FL
2019-03-21 : Grande : BL
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
1 | high-confidence PMBL/cHL/GZL gene1 |
 |
1 | high-confidence DLBCL gene2 |
 |
1 | high-confidence FL gene3 |
 |
2 | relevance in BL not firmly established4 |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 9.70 |
| BL | Thomas cohort | 7.60 |
| BL | Panea cohort | 19.80 |
| DLBCL | GAMBL genomes | 18.55 |
| DLBCL | Schmitz cohort | 17.87 |
| DLBCL | Reddy cohort | 14.51 |
| DLBCL | Chapuy cohort | 11.54 |
| FL | GAMBL genomes | 12.93 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | Yes | 14.203 | 0.000 |
| DLBCL | No | Yes | 4.446 | 6.437 |
| FL | No | Yes | 10.043 | 0.000 |
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 |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
HIST1H1E Expression
References
1.
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.
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.
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
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