PRKDC - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true
PRKDC
History
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timeline
title Publication timing
2018-04-12 : Schmitz : DLBCL
2021-05-05 : Hübschmann : FL
Relevance tier by entity
Entity | Tier | Description |
---|---|---|
1 | high-confidence PMBL/cHL/GZL gene | |
1 | high-confidence DLBCL gene [@schmitzGeneticsPathogenesisDiffuse2018a] | |
2 | relevance in FL not firmly established[@hubschmannMutationalMechanismsShaping2021b] |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
Entity | source | frequency (%) |
---|---|---|
DLBCL | GAMBL genomes | 2.68 |
DLBCL | Schmitz cohort | 7.66 |
DLBCL | Reddy cohort | 6.61 |
DLBCL | Chapuy cohort | 6.41 |
FL | GAMBL genomes | 3.00 |
Mutation pattern and selective pressure estimates
Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
---|---|---|---|---|
BL | No | No | 0.571 | 0.939 |
DLBCL | No | No | 1.076 | 0.000 |
FL | No | No | 0.000 | 7.794 |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
PRKDC Expression
All Mutations
SP192833 SP116701 SP59304 SP192765 SP194065 SP116720