Table of Contents
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
2 | relevance in MZL not firmly established1 |
 |
3 | Retired, Failed QC2 |
 |
2 | relevance in DLBCL not firmly established |
 |
1 | high-confidence FL gene |
Warnings
The variants reported in BL in this gene failed QC
See below or the study page for more information
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 |
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