[STAT6]
Mutation tier
| 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
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 1.62 |
| BL | Thomas cohort | 1.70 |
| BL | Panea cohort | 2.00 |
| DLBCL | GAMBL genomes | 5.74 |
| DLBCL | Schmitz cohort | 2.60 |
| DLBCL | Reddy cohort | 3.80 |
| DLBCL | Chapuy cohort | 4.70 |
| FL | GAMBL genomes | 15.94 |
Mutation pattern
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 3.301 | 0 |
| DLBCL | No | No | 11.582 | 0 |
| FL | No | Yes | 116.612 | 0 |
## STAT6 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr12 | 57496671 | C>G | G416R |
| chr12 | 57496666 | G>T | N417K |
| chr12 | 57496662 | C>T | D419N |
| chr12 | 57496662 | C>G | D419H |
| chr12 | 57496662 | C>A | D419Y |
| chr12 | 57496661 | T>G | D419A |
| chr12 | 57496661 | T>C | D419G |
| chr12 | 57496661 | T>A | D419V |
| chr12 | 57496658 | T>G | N420T |
| chr12 | 57496658 | T>C | N420S |
| chr12 | 57496656 | T>C | N421D |
| chr12 | 57496654 | A>C | N421K |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38


