BRINP3 - morinlab/LLMPP GitHub Wiki

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

BRINP3

<<Warn("In a subsequent reanalysis, the mutation rate in this gene was found to be inflated in the original results")>>

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
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Relevance tier by entity

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

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
DLBCL GAMBL genomes 2.68
DLBCL Schmitz cohort 3.40
DLBCL Reddy cohort 3.30
DLBCL Chapuy cohort 2.99

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL No No 4.218 0.00
DLBCL No No 1.138 0.00
FL No No 1.586 6.33

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

BRINP3 Expression

Representative Mutations

Rating ★ ★ ★ ★ ☆

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All Mutations

Reddy_2088T Reddy_2128T Reddy_2133T Reddy_2141T Reddy_2161T Reddy_2198T Reddy_2219T Reddy_2250T Reddy_2261T Reddy_2262T Reddy_2263T Reddy_2286T Reddy_2544T Reddy_2632T Reddy_2642T Reddy_2654T Reddy_2767T Reddy_2779T Reddy_2790T Reddy_2792T Reddy_2805T Reddy_2808T Reddy_2831T Reddy_2834T Reddy_2838T Reddy_2882T Reddy_2903T Reddy_2912T Reddy_2951T Reddy_3422T Reddy_3432T Reddy_3453T Reddy_3456T Reddy_3461T Reddy_3539T Reddy_3566T Reddy_3611T Reddy_3628T Reddy_3640T Reddy_3644T Reddy_3675T Reddy_3731T Reddy_3733T Reddy_3763T Reddy_3770T Reddy_3856T Reddy_3889T Reddy_3914T Reddy_3937T Reddy_3988T Reddy_3989T Reddy_695T

References

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