OSBPL10 - morinlab/LLMPP GitHub Wiki

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

OSBPL10

Overview

OSBPL10 is one of a number of genes affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus.

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
timeline
    title Publication timing
      2013-01-01 : Zhang : DLBCL
      2018-04-12 : Schmitz : DLBCL

Relevance tier by entity

Entity	Tier	Description
	1-a	aSHM target and high-confidence DLBCL gene [@zhangGeneticHeterogeneityDiffuse2013; @arthurGenomewideDiscoverySomatic2018; @schmitzGeneticsPathogenesisDiffuse2018a]

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity	source	frequency (%)
DLBCL	GAMBL genomes	8.80
DLBCL	Schmitz cohort	14.26
DLBCL	Reddy cohort	2.30
DLBCL	Chapuy cohort	2.56

Mutation pattern and selective pressure estimates

Entity	aSHM	Significant selection	dN/dS (missense)	dN/dS (nonsense)
BL	Yes	No	4.102	11.721
DLBCL	Yes	Yes	12.983	0.000
FL	Yes	Yes	5.877	8.779

aSHM regions

chr_name	hg19_start	hg19_end	region	regulatory_comment
chr3	32020518	32024930	TSS-1	active_promoter

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38