CBLB - morinlab/LLMPP GitHub Wiki

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

CBLB

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

History

Mutations in this gene were first described in DLBCL in 2017 by Reddy et al.1 Subsequent exome and genome-wide studies of DLBCL did not reproduce this observation.

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timeline
    title Publication timing
      2017-10-10 : Reddy : DLBCL

Relevance tier by entity

Entity Tier Description
DLBCL 3 Retired, Failed QC[@reddyGeneticFunctionalDrivers2017]

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
DLBCL GAMBL genomes 1.72
DLBCL Schmitz cohort 2.77
DLBCL Reddy cohort 1.60
DLBCL Chapuy cohort 1.71

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL No No 0.956 0
DLBCL No No 2.519 0
FL No No 0.000 0

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

CBLB Expression

All Mutations

Reddy_2084T Reddy_2088T Reddy_2107T Reddy_2163T Reddy_2208T Reddy_2222T Reddy_2270T Reddy_2291T Reddy_2293T Reddy_2448T Reddy_2471T Reddy_2643T Reddy_2720T Reddy_2805T Reddy_2832T Reddy_2919T Reddy_2948T Reddy_2953T Reddy_2996T Reddy_3386T Reddy_3433T Reddy_3622T Reddy_3628T Reddy_3697T Reddy_3732T Reddy_3837T Reddy_3845T Reddy_3846T Reddy_3942T Reddy_3959T Reddy_3971T Reddy_3999T Reddy_4000T

References

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