HIST1H2BC
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 |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 4.59 |
| DLBCL | Schmitz cohort | 5.53 |
| DLBCL | Reddy cohort | 4.30 |
| DLBCL | Chapuy cohort | 5.56 |
| FL | GAMBL genomes | 3.46 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 2.806 | 35.161 |
| DLBCL | No | No | 1.712 | 0.000 |
| FL | No | No | 1.094 | 0.000 |
[!NOTE] First described in DLBCL in 2017 by Reddy A
## HIST1H2BC Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr6 | 26123951 | C>T | G61D |
| chr6 | 26123944 | C>T | M63I |
| chr6 | 26123939 | G>A | S65F |
| chr6 | 26123939 | G>C | S65C |
| chr6 | 26123924 | A>G | I70T |
| chr6 | 26123923 | T>C | I70M |
| chr6 | 26123922 | A>C | F71V |
| chr6 | 26123920 | A>C | F71L |
| chr6 | 26123919 | C>G | E72Q |
| chr6 | 26123919 | C>T | E72K |
| chr6 | 26123917 | C>G | E72D |
| chr6 | 26123916 | G>C | R73G |
| chr6 | 26123916 | G>A | R73C |
| chr6 | 26123915 | C>T | R73H |
| chr6 | 26123904 | C>T | E77K |
| chr6 | 26123903 | T>C | E77G |
| chr6 | 26123901 | C>T | A78T |
| chr6 | 26123901 | C>A | A78S |
| chr6 | 26123900 | G>A | A78V |
| chr6 | 26123886 | G>A | H83Y |
| chr6 | 26123881 | G>C | Y84* |
| chr6 | 26123874 | G>A | R87C |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
##
HIST1H2BC Expression


