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

UBR5

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.

History

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timeline
    title Publication timing
      2013-01-01 : Zhang : DLBCL
      2020-07-30 : Pararajalingam : MCL

Relevance tier by entity

Entity	Tier	Description
	1	high-confidence PMBL/cHL/GZL gene
	2	relevance in DLBCL not firmly established[@zhangGeneticHeterogeneityDiffuse2013]
	1	high-confidence MCL gene [@pararajalingamCodingNoncodingDrivers2020]

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity	source	frequency (%)
DLBCL	GAMBL genomes	3.63
DLBCL	Schmitz cohort	5.53
DLBCL	Reddy cohort	3.20
DLBCL	Chapuy cohort	5.13
MCL	GAMBL genomes	9.00

Mutation pattern and selective pressure estimates

Entity	aSHM	Significant selection	dN/dS (missense)	dN/dS (nonsense)
BL	No	No	0.678	1.875
DLBCL	No	No	1.342	5.285
FL	No	No	0.918	6.988

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

UBR5 Expression

References