VPS13B - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true
VPS13B
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
1 | high-confidence PMBL/cHL/GZL gene |
 |
1 | high-confidence DLBCL gene[@lohrDiscoveryPrioritizationSomatic2012a] |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 4.21 |
| DLBCL | Schmitz cohort | 8.30 |
| DLBCL | Reddy cohort | 5.71 |
| DLBCL | Chapuy cohort | 4.27 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 0.768 | 0.000 |
| DLBCL | No | No | 1.730 | 0.000 |
| FL | No | No | 0.000 | 4.014 |
VPS13B Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr8 | 100829860 | A>T | Q2755H |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
VPS13B Expression
