XPO1
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| DLBCL | 1 | high-confidence DLBCL gene |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 3.82 |
| DLBCL | Schmitz cohort | 2.34 |
| DLBCL | Reddy cohort | 1.40 |
| DLBCL | Chapuy cohort | 1.28 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 1.028 | 0 |
| DLBCL | No | No | 9.927 | 0 |
| FL | No | No | 0.000 | 0 |
[!NOTE] First described in DLBCL in 2016 by Mareschal S
## XPO1 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr2 | 61719471 | T>C | E571G |
| chr2 | 61719472 | C>T | E571K |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38


