Table of Contents
Overview
The relevance of HIST1H3B mutations in DLBCL remains unclear. Selective pressure analysis did not identify this gene as significantly enriched for either missense or truncating mutations, indicating that many of these mutations may represent passengers.
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| 1 | High-confidence DLBCL gene | |
| 2 | Role of HIST1H3B 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 | 22 | 0.0202 | [0.0118,0.0286] |
| DLBCL | GAMBL with Reddy | 2,088 | 42 | 0.0201 | [0.0141,0.0261] |
| DLBCL | BC | 231 | 2 | 0.0087 | [0,0.0206] |
| DLBCL | Dana-Farber | 303 | 8 | 0.0264 | [0.0083,0.0445] |
| DLBCL | NCI | 470 | 8 | 0.0170 | [0.0053,0.0287] |
| DLBCL | Reddy | 999 | 20 | 0.0200 | [0.0113,0.0287] |
| DLBCL | DLBCL_ICGC | 85 | 4 | 0.0471 | [0.002,0.0921] |
BL
| pathology | Collection | N | mutated | Incidence | CI |
|---|---|---|---|---|---|
| BL | GAMBL without Panea | 309 | 7 | 0.0227 | [0.0061,0.0392] |
| BL | GAMBL without ICGC/Zhou | 320 | 8 | 0.0246 | [0.0077,0.0416] |
| BL | GAMBL with Panea | 410 | 10 | 0.0241 | [0.0092,0.0389] |
| BL | BLGSP | 219 | 5 | 0.0228 | [0.003,0.0426] |
| BL | Zhou/ICGC | 90 | 2 | 0.0222 | [0,0.0527] |
| BL | Panea | 101 | 3 | 0.0297 | [0,0.0628] |
FL
| pathology | Collection | N | mutated | Incidence | CI |
|---|---|---|---|---|---|
| FL | GAMBL without Crouch | 642 | 7 | 0.0109 | [0.0029,0.0189] |
| FL | GAMBL with Crouch | 1,189 | 17 | 0.0143 | [0.0075,0.021] |
| FL | BC | 379 | 3 | 0.0079 | [0,0.0168] |
| FL | Kalmbach | 164 | 1 | 0.0061 | [0,0.018] |
| FL | Crouch | 547 | 10 | 0.0183 | [0.0071,0.0295] |
| 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 | 9.0187 | 0.000 | 1.0000 |
| FL | 1.8444 | 0.000 | 1.0000 |
| DLBCL | 0.8530 | 1.059 | 0.7937 |
HIST1H3B Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr6 | 26032045 | C>T | D82N |
| chr6 | 26032029 | C>G | S87T |
| chr6 | 26032029 | C>T | S87N |
| chr6 | 26032028 | G>C | S87R |
| chr6 | 26032021 | C>T | V90M |
| chr6 | 26032017 | A>G | M91T |
Visualizations
Protein
View coding variants in ProteinPaint hg19 or hg38
Genome
View all variants in GenomePaint hg19 or hg38
History
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
timeline
title Publication timing
2013-01-01 : Zhang : DLBCL
2015-02-12 : Reichel : PMBL
References
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Lohr
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Ansell SM, Link BK, Zou L, Gould J, Saksena G, Stransky N,
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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.
Reichel J, Chadburn A, Rubinstein PG,
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Carlo-Stella C, Santoro A, Rahal D, Totonchy J, Elemento O, Cesarman E,
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sorting and exome sequencing reveal the oncogenome of primary
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2015 Feb 12;125(7):1061–1072.


