HNRNPH1 - morinlab/LLMPP GitHub Wiki

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HNRNPH1

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.[@pararajalingamCodingNoncodingDrivers2020] Although initially characterized in MCL, the same pattern of mutations appears in a small number of DLBCLs.

History

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timeline
    title Publication timing
      2020-07-30 : Pararajalingam : MCL

Relevance tier by entity

Entity	Tier	Description
	2-EE	high-confidence DLBCL gene[@pararajalingamCodingNoncodingDrivers2020]
	1-EE	high-confidence MCL gene [@pararajalingamCodingNoncodingDrivers2020]

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

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