SGK1
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| BL | 2-a | aSHM target; Although recurrent, the relevance of mutations in BL is tenuous |
| DLBCL | 1-a | aSHM target and high-confidence DLBCL gene |
| FL | 1-a | aSHM target and high-confidence FL gene |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 2.08 |
| BL | Thomas cohort | 2.50 |
| BL | Panea cohort | 4.00 |
| DLBCL | GAMBL genomes | 11.09 |
| DLBCL | Schmitz cohort | 10.64 |
| DLBCL | Reddy cohort | 11.21 |
| DLBCL | Chapuy cohort | 12.82 |
| FL | GAMBL genomes | 6.00 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | Yes | No | 5.451 | 7.487 |
| DLBCL | Yes | Yes | 6.056 | 13.755 |
| FL | Yes | Yes | 23.198 | 134.356 |
aSHM regions
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr6 | 134487960 | 134499859 | TSS-1 | active_promoter |
[!NOTE] First described in DLBCL in 2011 by Morin RD. First described in FL in 2011 by Morin RD
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38


