POU2F2 - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true
POU2F2
History
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timeline
title Publication timing
2012-03-06 : Lohr : DLBCL
2013-01-01 : Zhang : DLBCL
2017-01-26 : Krysiak : FL
2017-10-10 : Reddy : DLBCL
2018-05-01 : Chapuy : DLBCL
2018-10-01 : Arthur : DLBCL
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
1 | high-confidence DLBCL gene[@lohrDiscoveryPrioritizationSomatic2012a; @zhangGeneticHeterogeneityDiffuse2013; @reddyGeneticFunctionalDrivers2017] |
 |
1 | high-confidence FL gene [@krysiakRecurrentSomaticMutations2017b] |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 5.93 |
| DLBCL | Schmitz cohort | 6.38 |
| DLBCL | Reddy cohort | 3.40 |
| DLBCL | Chapuy cohort | 6.41 |
| FL | GAMBL genomes | 6.24 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 3.431 | 0.000 |
| DLBCL | No | Yes | 12.445 | 51.943 |
| FL | No | No | 17.646 | 0.000 |
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 |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
POU2F2 Expression
