EZH2
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| BL | 2 | relevance in BL not firmly established |
| DLBCL | 1 | high-confidence DLBCL gene |
| FL | 1 | high-confidence FL gene |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 3.46 |
| BL | Thomas cohort | 1.30 |
| BL | Panea cohort | 10.90 |
| DLBCL | GAMBL genomes | 13.77 |
| DLBCL | Schmitz cohort | 9.15 |
| DLBCL | Reddy cohort | 8.91 |
| DLBCL | Chapuy cohort | 5.56 |
| FL | GAMBL genomes | 24.94 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 4.992 | 0 |
| DLBCL | No | Yes | 19.753 | 0 |
| FL | No | Yes | 117.987 | 0 |
[!NOTE] First described in BL in 2012 by Love C. First described in DLBCL in 2010 by Morin RD. First described in FL in 2010 by Morin RD
## EZH2 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr7 | 148508745 | T>C | N640S |
| chr7 | 148508740 | A>G | F642L |
| chr7 | 148508728 | A>T | Y646N |
| chr7 | 148508728 | A>G | Y646H |
| chr7 | 148508727 | T>G | Y646S |
| chr7 | 148508727 | T>C | Y646C |
| chr7 | 148508727 | T>A | Y646F |
| chr7 | 148506466 | TG>GC | A682G |
| chr7 | 148506467 | G>C | A682G |
| chr7 | 148506437 | GC>AA | A692L |
| chr7 | 148506437 | G>A | A692V |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
Citing
If you use the information or data from this site, please cite
Krysta Coyle, Kostiantyn Dreval, Daniel Hodson and Ryan D. Morin. Audit of B-cell cancer genes. Blood Adv (2025) 9 (8): 2019–2031.
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