HIST1H2BK - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true
HIST1H2BK
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.
<<Warn("The variants reported in this gene in BL failed QC")>>
History
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timeline
title Publication timing
2012-08-27 : Rossi : MZL
2013-01-01 : Zhang : DLBCL
2018-05-01 : Chapuy : DLBCL
2019-09-26 : Panea : BL
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
2 | relevance in MZL not firmly established[@rossiCodingGenomeSplenic2012c] |
 |
3 | Retired, Failed QC[@paneaWholeGenomeLandscape2019] |
 |
1 | high-confidence DLBCL gene [@zhangGeneticHeterogeneityDiffuse2013; @chapuyMolecularSubtypesDiffuse2018b] |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 5.31 |
| BL | Thomas cohort | 4.70 |
| BL | Panea cohort | 7.90 |
| DLBCL | GAMBL genomes | 4.59 |
| DLBCL | Schmitz cohort | 5.32 |
| DLBCL | Reddy cohort | 4.20 |
| DLBCL | Chapuy cohort | 5.56 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 4.421 | 0 |
| DLBCL | No | No | 1.567 | 0 |
| FL | No | No | 0.760 | 0 |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
Representative Mutations
BL[@paneaWholeGenomeLandscape2019]
Rating
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Rating
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