SPEN
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| 1 | high-confidence DLBCL gene |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 4.78 |
| DLBCL | Schmitz cohort | 10.00 |
| DLBCL | Reddy cohort | 7.41 |
| DLBCL | Chapuy cohort | 9.83 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 1.456 | 0.000 |
| DLBCL | No | No | 0.900 | 13.083 |
| FL | No | No | 1.765 | 25.228 |
## SPEN Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr1 | 16256846 | C>T | R1371* |
| chr1 | 16261814 | C>T | R3027* |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
## SPEN
Expression


