PRDM1 - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @reddyGeneticFunctionalDrivers2017, @morinMutationalStructuralAnalysis2013, @pasqualucciInactivationPRDM1BLIMP12006, @zhangGeneticHeterogeneityDiffuse2013,
Experimental Evidence
Driver mutations affecting this gene in DLBCL have been experimentally demonstrated to cause a reduction or loss of function (LOF).[@pasqualucciInactivationPRDM1BLIMP12006]
Relevance tier by entity
include:tables/table1_PRDM1.md
Mutation incidence in large patient cohorts (GAMBL reanalysis)
DLBCL
BL
Mutation pattern and selective pressure estimates
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 |
include:tables/browser_PRDM1.md
Expression
include:tables/mermaid_PRDM1.md