HNRNPH1

Overview

Mutations in HNRNPH1 result in 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.<>1,2<>

Relevance tier by entity

Entity	Tier	Description
DLBCL	1	high-confidence DLBCL gene
MCL	1	high-confidence MCL gene

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

Entity	aSHM	Significant selection	dN/dS (missense)	dN/dS (nonsense)
BL	No	No	1.573	0.000
DLBCL	No	No	2.337	10.139
FL	No	No	0.000	0.000

[!NOTE] First described in MCL in 2020 by Pararajalingam P

## 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

References

1. Pararajalingam, P., Coyle, K., Arthur, S., Thomas, N., Alcaide, M., Meissner, B., Boyle, M., Qureshi, Q., Grande, B., Rushton, C., Slack, G., Mungall, A., Tam, C., Agarwal, R., Dawson, S., Lenz, G., Balasubramanian, S., Gascoyne, R., Steidl, C., Connors, J., Villa, D., Audas, T., Marra, M., Johnson, N., Scott, D., & Morin, R. (2020). Coding and non-coding drivers of mantle cell lymphoma identified through exome and genome sequencing.. Blood. https://doi.org/10.1182/blood.2019002385.
2. Coyle, K., Qureshi, Q., Pararajalingam, P., Thomas, N., Audas, T., & Morin, R. (2020). Perturbations in HNRNPH1 Splicing and Abundance Affect Global Splicing and Proliferation in Mantle Cell Lymphoma. Blood, 136, 23-24. https://doi.org/10.1182/BLOOD-2020-141389.