NFKB1
Overview
Mutations in this gene are relatively rare in DLBCL overall. Some hotspots have been identified in DLBCL. Without further support, this gene may be migrated to Tier 2.
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 | 2.10 |
| DLBCL | Schmitz cohort | 1.28 |
| DLBCL | Reddy cohort | 1.60 |
| DLBCL | Chapuy cohort | 3.42 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 0.644 | 0 |
| DLBCL | No | No | 1.613 | 0 |
| FL | No | No | 4.561 | 0 |
## NFKB1 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr4 | 103459054 | C>T | H67Y |
| chr4 | 103459061 | G>A | G69E |
| chr4 | 103501730 | G>A | D257N |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38


