ATP6V1B2
History
| Entity | Tier | Description |
|---|---|---|
| 1 | high-confidence FL gene |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| FL | GAMBL genomes | 7.39 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 5.989 | 0 |
| DLBCL | No | No | 1.297 | 0 |
| FL | No | Yes | 72.658 | 0 |
## ATP6V1B2 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr8 | 20074768 | G>A | R400Q |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
##
ATP6V1B2 Expression
## References 1.
Okosun J, Wolfson RL, Wang J, Araf S, Wilkins L, Castellano BM,
Escudero-Ibarz L, Al Seraihi AF, Richter J, Bernhart SH, Efeyan A, Iqbal
S, Matthews J, Clear A, Guerra-Assunção JA, Bödör C, Quentmeier H,
Mansbridge C, Johnson P, Davies A, Strefford JC, Packham G, Barrans S,
Jack A, Du MQ, Calaminici M, Lister TA, Auer R, Montoto S, Gribben JG,
Siebert R, Chelala C, Zoncu R, Sabatini DM, Fitzgibbon J. Recurrent
mTORC1-activating RRAGC mutations in follicular lymphoma. Nat Genet.
2016 Feb;48(2):183–188. PMCID: PMC4731318


