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rdmorin edited this page Jul 3, 2024 · 19 revisions

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

BTBD3

History

Mutations in this gene were first described in DLBCL in 2013[@zhangGeneticHeterogeneityDiffuse2013] and by the same group in a subsequent study.[@reddyGeneticFunctionalDrivers2017] It remains in Tier 2 because other exome and genome-wide studies of DLBCL did not reproduce this observation.

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timeline
    title Publication timing
      2013-01-01 : Zhang : DLBCL
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Relevance tier by entity

Entity Tier Description
DLBCL 2 relevance in DLBCL not firmly established[@zhangGeneticHeterogeneityDiffuse2013]

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
DLBCL GAMBL genomes 0.57
DLBCL Schmitz cohort 1.91
DLBCL Reddy cohort 1.80
DLBCL Chapuy cohort 0.85

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL No No 5.604 0
DLBCL No No 0.722 0
FL No No 2.655 0

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

BTBD3 Expression

Representative Mutations

Rating ★ ★ ☆ ☆ ☆

All Mutations

Reddy_2193T Reddy_2219T Reddy_2240T Reddy_2475T Reddy_2603T Reddy_2698T Reddy_2838T Reddy_2950T Reddy_3387T Reddy_3479T Reddy_3548T Reddy_3566T Reddy_3594T Reddy_3706T Reddy_3708T Reddy_3759T Reddy_3916T Reddy_3918T Reddy_759T

References

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