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rdmorin edited this page Jun 21, 2024 · 18 revisions

bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true

PRKDC

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
timeline
    title Publication timing
      2018-04-12 : Schmitz : DLBCL
      2021-05-05 : Hübschmann : FL
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Relevance tier by entity

Entity Tier Description
PMBL 1 high-confidence PMBL/cHL/GZL gene
DLBCL 1 high-confidence DLBCL gene [@schmitzGeneticsPathogenesisDiffuse2018a]
FL 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

References

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