PRDM1 - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true
PRDM1
History
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timeline
title Publication timing
2006-02-02 : Pasqualucci : DLBCL
2013-01-01 : Zhang : DLBCL
2013-08-15 : Morin : DLBCL
2017-10-10 : Reddy : DLBCL
2018-04-12 : Schmitz : DLBCL
2018-05-01 : Chapuy : DLBCL
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
1 | high-confidence DLBCL gene [@pasqualucciInactivationPRDM1BLIMP12006a; @zhangGeneticHeterogeneityDiffuse2013; @morinMutationalStructuralAnalysis2013; @reddyGeneticFunctionalDrivers2017] |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 2.31 |
| BL | Thomas cohort | 0.80 |
| BL | Panea cohort | 5.90 |
| DLBCL | GAMBL genomes | 6.88 |
| DLBCL | Schmitz cohort | 10.21 |
| DLBCL | Reddy cohort | 5.41 |
| DLBCL | Chapuy cohort | 8.55 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 0.746 | 0.000 |
| DLBCL | No | Yes | 4.912 | 23.497 |
| FL | No | No | 0.000 | 0.000 |
PRDM1 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr6 | 106536207 | T>A | C58* |
| chr6 | 106536207 | T>G | C58W |
| chr6 | 106536209 | C>T | T59I |
| chr6 | 106536256 | A>T | T75S |
| chr6 | 106536262 | G>T | V77F |
| chr6 | 106536324 | G>A | E97= |
| chr6 | 106536324 | G>C | E97D |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
PRDM1 Expression
