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-EE high-confidence DLBCL gene1
MCL 1-EE high-confidence MCL gene1

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
DLBCL GAMBL genomes 2.10
DLBCL Schmitz cohort 3.19
DLBCL Reddy cohort 1.40
DLBCL Chapuy cohort 3.42
MCL GAMBL genomes 3.79

Mutation pattern and selective pressure estimates

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HNRNPH1 Hotspots

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

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

HNRNPH1 Expression

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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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