ATP6V1A - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @hubschmannMutationalMechanismsShaping2021,
Overview
Mutations in this gene were first described in DLBCL in 2021 by Hübschmann et al.[@hubschmannMutationalMechanismsShaping2021]
Relevance tier by entity
include:tables/table1_ATP6V1A.md
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| FL | GAMBL genomes | 1.15 |
Mutation pattern and selective pressure estimates
include:tables/dnds_ATP6V1A.md
ATP6V1A Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr3 | 113528218 | G>A | D600N |
include:tables/browser_ATP6V1A.md
Expression
All Mutations
SP59304 SP59444 SP193057 SP194216
include:tables/mermaid_ATP6V1A.md