CDC73 - morinlab/LLMPP GitHub Wiki

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

CDC73

<<Warn("The variants reported in this gene in DLBCL failed QC")>>

History

Mutations in this gene were first described in BL in 2012 by Love et al1 and subsequently in DLBCL by Reddy et al.2 Subsequent exome and genome-wide studies of DLBCL and BL did not reproduce these observations.

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timeline
    title Publication timing
      2012-12-01 : Love : BL
      2017-10-10 : Reddy : DLBCL
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Relevance tier by entity

Entity Tier Description
BL 2 relevance in BL not firmly established [@loveGeneticLandscapeMutations2012]
DLBCL 2 relevance in DLBCL not firmly established[@reddyGeneticFunctionalDrivers2017]

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
BL GAMBL genomes+capture 2.54
BL Thomas cohort NA
BL Panea cohort NA
DLBCL GAMBL genomes 0.57
DLBCL Schmitz cohort 0.64
DLBCL Reddy cohort 0.70
DLBCL Chapuy cohort 1.28

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL No No 3.951 0
DLBCL No No 1.702 0
FL No No 3.603 0

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

CDC73 Expression

Representative Mutations

BL

Rating ★ ★ ★ ☆ ☆

DLBCL

Rating ★ ☆ ☆ ☆ ☆

All Mutations

BL

1065 1065 847

References

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