HIST1H2AG
The variants reported in BL in this gene failed QC
See below or the study page for more information
History
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timeline
title Publication timing
2012-08-27 : Rossi : MZL
2013-08-15 : Morin : DLBCL
2017-01-26 : Krysiak : FL
2019-09-26 : Panea : BL
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
2 | relevance in MZL not firmly establishedrossiCodingGenomeSplenic2012c? |
 |
2-F | Failed QC1 |
 |
2 | relevance in DLBCL not firmly established |
 |
1 | high-confidence FL gene |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 1.39 |
| BL | Thomas cohort | 2.50 |
| BL | Panea cohort | 1.00 |
| DLBCL | GAMBL genomes | 3.44 |
| DLBCL | Schmitz cohort | 3.62 |
| DLBCL | Reddy cohort | 1.90 |
| DLBCL | Chapuy cohort | 2.99 |
| FL | GAMBL genomes | 2.08 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 3.809 | 0 |
| DLBCL | No | No | 5.602 | 0 |
| FL | No | No | 0.405 | 0 |
HIST1H2AG Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr6 | 27101075 | G>T | K75N |
| chr6 | 27101083 | G>A | R78H |
| chr6 | 27101100 | C>G | L84V |
| chr6 | 27101126 | G>T | E92D |
| chr6 | 27101130 | C>G | L94V |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
Representative Mutations
BL4
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References
1.
Panea R, Love C, Shingleton JR, Reddy A, Bailey
J, Moormann A, Otieno J, Ong’echa J, Oduor C, Schroêder K, Masalu N,
Chao N, Agajanian M, Major M, Fedoriw Y, Richards K, Rymkiewicz G, Miles
R, Alobeid B, Bhagat G, Flowers C, Ondrejka S, Hsi E, Choi W, Au-Yeung
R, Hartmann W, Lenz G, Meyerson H, Lin YY, Zhuang Y, Luftig M, Waldrop
A, Dave T, Thakkar D, Sahay H, Li G, Palus B, Seshadri V, Kim S,
Gascoyne R, Levy S, Mukhopadhyay M, Dunson D, Dave S. The whole genome
landscape of Burkitt lymphoma subtypes. Blood. 2019;