HNRNPH1 - morinlab/LLMPP GitHub Wiki


bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @pararajalingamCodingNoncodingDrivers2020,

TOC

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.

Relevance tier by entity

include:tables/table1_HNRNPH1.md

Mutation incidence in large patient cohorts (GAMBL reanalysis)

MCL

include:tables/MCL_HNRNPH1

DLBCL

include:tables/DLBCL_HNRNPH1

Mutation pattern and selective pressure estimates

include:tables/dnds_HNRNPH1.md

HNRNPH1 Hotspots

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

include:tables/browser_HNRNPH1.md

Expression

include:tables/mermaid_HNRNPH1.md

References