HIST1H2AM
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. ## Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| DLBCL | 1 | high-confidence DLBCL gene |
| FL | 1 | high-confidence FL gene |
| BL | 2 | relevance in BL not firmly established |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 5.93 |
| DLBCL | Schmitz cohort | 5.74 |
| DLBCL | Reddy cohort | 4.80 |
| DLBCL | Chapuy cohort | 5.98 |
| FL | GAMBL genomes | 3.70 |
| BL | GAMBL genomes+capture | 1.85 |
| BL | Thomas cohort | 1.70 |
| BL | Panea cohort | 3.00 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| DLBCL | No | No | 1.844 | 0 |
| FL | No | No | 1.845 | 0 |
| BL | No | No | 2.149 | 0 |
## HIST1H2AM Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr6 | 27860660 | T>C | N90D |
| chr6 | 27860658 | G>C | N90K |
| chr6 | 27860652 | C>G | E92D |
| chr6 | 27860652 | C>A | E92D |
| chr6 | 27860649 | C>G | E93D |
| chr6 | 27860648 | G>C | L94V |
| chr6 | 27860648 | G>A | L94F |
| chr6 | 27860644 | T>C | N95S |
| chr6 | 27860643 | G>C | N95K |
| chr6 | 27860640 | C>G | K96N |
| chr6 | 27860640 | C>A | K96N |
| chr6 | 27860639 | G>C | L97V |
| chr6 | 27860636 | G>C | L98V |
| chr6 | 27860636 | G>A | L98F |
| chr6 | 27860633 | C>G | G99R |
| chr6 | 27860632 | C>G | G99A |
| chr6 | 27860627 | C>G | V101L |
| chr6 | 27860627 | C>T | V101I |
| chr6 | 27860627 | C>A | V101F |
| chr6 | 27860624 | T>A | T102S |
| chr6 | 27860623 | G>C | T102S |
| chr6 | 27860623 | G>A | T102I |
| chr6 | 27860560 | C>G | S123T |
| chr6 | 27860559 | G>C | S123R |
| chr6 | 27860549 | C>G | A127P |
| chr6 | 27860548 | G>C | A127G |
| chr6 | 27860548 | G>A | A127V |
| chr6 | 27860542 | C>T | G129D |
| chr6 | 27860538 | C>G | K130N |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38


