Table of Contents

Overview

GRHPR 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. The mutation pattern in DLBCL implies the preferential accumulation of inactivating mutations. Coding and non-coding mutations in GRHPR are a feature of the MCD genetic subgroup of DLBCL.1 Further research is needed to elucidate the specific role of GRHPR mutations in DLBCL.

Relevance tier by entity

Entity Tier Description
DLBCL 1 High-confidence DLBCL gene

Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

Entity Collection N mutated Incidence 95% CI
DLBCL GAMBL without Reddy 1,089 44 0.0404 [0.0287,0.0521]
DLBCL GAMBL with Reddy 2,088 80 0.0383 [0.0301,0.0465]
DLBCL BC 231 9 0.0390 [0.014,0.0639]
DLBCL Dana-Farber 303 12 0.0396 [0.0176,0.0616]
DLBCL NCI 470 21 0.0447 [0.026,0.0634]
DLBCL Reddy 999 36 0.0360 [0.0245,0.0476]
DLBCL DLBCL_ICGC 85 2 0.0235 [0,0.0558]

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 1.1643 0.0000 1e+00
FL 0.0000 0.0000 1e+00
DLBCL 0.7458 2.5144 3e-04

aSHM regions

chr_name hg19_start hg19_end region regulatory_comment
chr9 37423010 37425279 TSS active_promoter

Visualizations

Protein

View coding variants in ProteinPaint hg19 or hg38

Genome

View all variants in GenomePaint hg19 or hg38

Expression

Failed to render page: conflicting chdir during another chdir block

References

1.
Arthur SE, Jiang A, Grande BM, Alcaide M, Cojocaru R, Rushton CK, Mottok A, Hilton LK, Lat PK, Zhao EY, Culibrk L, Ennishi D, Jessa S, Chong L, Thomas N, Pararajalingam P, Meissner B, Boyle M, Davidson J, Bushell KR, Lai D, Farinha P, Slack GW, Morin GB, Shah S, Sen D, Jones SJM, Mungall AJ, Gascoyne RD, Audas TE, Unrau P, Marra MA, Connors JM, Steidl C, Scott DW, Morin RD. Genome-wide discovery of somatic regulatory variants in diffuse large B-cell lymphoma. Nat Commun. 2018 Oct 1;9(1):4001. PMCID: PMC6167379

Failed to render page: conflicting chdir during another chdir block