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.

Relevance tier by entity

Entity Tier Description
BL 2-a aSHM target; Although recurrent, the relevance of mutations in BL is tenuous
DLBCL 1-a aSHM target and high-confidence DLBCL gene

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
BL GAMBL genomes+capture 2.08
BL Thomas cohort 2.10
BL Panea cohort 3.00
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

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View all variants in GenomePaint hg19 or hg38

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