KLHL14
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 | 4.59 |
| DLBCL | Schmitz cohort | 6.60 |
| DLBCL | Reddy cohort | 4.60 |
| DLBCL | Chapuy cohort | 7.26 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 0.000 | 0.000 |
| DLBCL | No | No | 3.154 | 2.846 |
| FL | No | No | 12.248 | 24.944 |
[!NOTE] First described in DLBCL in 2013 by Zhang J
## KLHL14 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr18 | 30349909 | G>A | L216F |
| chr18 | 30349905 | T>G | N217T |
| chr18 | 30349902 | A>C | F218C |
| chr18 | 30349882 | G>C | L225V |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38

