HIST1H2AC
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| DLBCL | 1 | high-confidence DLBCL gene |
| FL | 1 | high-confidence FL gene |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 5.16 |
| DLBCL | Schmitz cohort | 6.17 |
| DLBCL | Reddy cohort | 3.40 |
| DLBCL | Chapuy cohort | 6.41 |
| FL | GAMBL genomes | 2.31 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 1.742 | 0.000 |
| DLBCL | No | No | 3.090 | 20.364 |
| FL | No | No | 1.715 | 0.000 |
[!NOTE] First described in DLBCL in 2013 by Morin RD
## HIST1H2AC Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr6 | 26124549 | G>T | R30L |
| chr6 | 26124560 | CTGCTCCG>- | L34* |
| chr6 | 26124578 | T>G | Y40D |
| chr6 | 26124581 | G>A | A41T |
| chr6 | 26124690 | C>G | T77S |
| chr6 | 26124709 | C>G | H83Q |
| chr6 | 26124737 | G>A | E93K |
| chr6 | 26124740 | C>G | L94V |
| chr6 | 26124740 | C>T | L94F |
| chr6 | 26124767 | A>G | I103V |
| chr6 | 26124769 | T>G | I103M |
| chr6 | 26124770 | G>A | A104T |
| chr6 | 26124770 | G>C | A104P |
| chr6 | 26124771 | C>G | A104G |
| chr6 | 26124771 | C>T | A104V |
| chr6 | 26124791 | A>G | N111D |
| chr6 | 26124800 | G>A | A114T |
| chr6 | 26124819 | A>G | K120R |
| chr6 | 26124832 | CC>TT | H125Y |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38

