POU2F2 - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @krysiakRecurrentSomaticMutations2017, @reddyGeneticFunctionalDrivers2017, @lohrDiscoveryPrioritizationSomatic2012, @zhangGeneticHeterogeneityDiffuse2013,
Experimental Evidence
Driver mutations affecting this gene in FL/DLBCL have been experimentally demonstrated to cause a reduction or loss of function (LOF).[@hodsonRegulationNormalBcell2016]
Relevance tier by entity
include:tables/table1_POU2F2.md
Mutation incidence in large patient cohorts (GAMBL reanalysis)
DLBCL
include:tables/DLBCL_POU2F2.md
FL
Mutation pattern and selective pressure estimates
POU2F2 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr19 | 42600031 | C>G | Q238H |
| chr19 | 42600031 | C>A | Q238H |
| chr19 | 42600030 | T>C | T239A |
| chr19 | 42600030 | T>A | T239S |
include:tables/browser_POU2F2.md
Expression
include:tables/mermaid_POU2F2.md