Table of Contents

Overview

Non-coding mutations, including synonymous and intronic mutations, are enriched at splicing signals in exon 4 of HNRNPH1.

Experimental Evidence

The common HNRNPH1 mutations cause deregulated splicing and increased expression of the hnRNP H1 protein. This overexpression is linked to enhanced cell proliferation and survival, contributing to the aggressive nature of MCL.1 Although initially characterized in MCL, the same pattern of mutations appears in a small number of DLBCLs.

Relevance tier by entity

Entity Tier Description
DLBCL 2 Role of HNRNPH1 mutations in DLBCL requires confirmation
MCL 1 High-confidence MCL gene

Mutation incidence in large patient cohorts (GAMBL reanalysis)

MCL

pathology Collection N mutated Incidence CI
MCL GAMBL 160 8 0.0499 [0.0162,0.0837]
MCL BC_MCL 103 5 0.0485 [0.007,0.09]
MCL Barcelona 57 3 0.0526 [0,0.1106]

DLBCL

Entity Collection N mutated Incidence 95% CI
DLBCL GAMBL without Reddy 1,089 32 0.0294 [0.0194,0.0394]
DLBCL GAMBL with Reddy 2,088 46 0.0220 [0.0157,0.0283]
DLBCL BC 231 5 0.0216 [0.0029,0.0404]
DLBCL Dana-Farber 303 11 0.0363 [0.0152,0.0574]
DLBCL NCI 470 15 0.0319 [0.016,0.0478]
DLBCL Reddy 999 14 0.0140 [0.0067,0.0213]
DLBCL DLBCL_ICGC 85 1 0.0118 [0,0.0347]

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 0.7696 0 1.0000
FL 2.7928 0 1.0000
DLBCL 0.0000 0 0.9986

HNRNPH1 Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr5 179046407 C>A G133=

Visualizations

Protein

View coding variants in ProteinPaint hg19 or hg38

Genome

View all variants in GenomePaint hg19 or hg38

Expression

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2020-07-30 : Pararajalingam : MCL

References

1.
Pararajalingam P, Coyle KM, Arthur SE, Thomas N, Alcaide M, Meissner B, Boyle M, Qureshi Q, Grande BM, Rushton C, Slack GW, Mungall AJ, Tam CS, Agarwal R, Dawson SJ, Lenz G, Balasubramanian S, Gascoyne RD, Steidl C, Connors J, Villa D, Audas TE, Marra MA, Johnson NA, Scott DW, Morin RD. Coding and noncoding drivers of mantle cell lymphoma identified through exome and genome sequencing. Blood. 2020 Jul 30;136(5):572–584. PMCID: PMC7440974

Citing

If you use the information or data from this site, please cite

Krysta Coyle, Kostiantyn Dreval, Daniel Hodson and Ryan D. Morin. Audit of B-cell cancer genes. Blood Adv (2025) 9 (8): 2019–2031.

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