KLHL14

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bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @reddyGeneticFunctionalDrivers2017, @zhangGeneticHeterogeneityDiffuse2013, @schmitzGeneticsPathogenesisDiffuse2018,

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Overview

KLHL14 (Kelch-like family member 14) is a gene that has been identified as playing a role in B-cell lymphomas, particularly diffuse large B-cell lymphoma (DLBCL).[@zhangGeneticHeterogeneityDiffuse2013] KLHL14 has been identified as a recurrent target of somatic mutations in ABC DLBCLs. These mutations are a feature of the MCD genetic subgroup of DLBCL. The gene encodes a protein involved in the ubiquitin-proteasome system, and its inactivation leads to increased cell proliferation and survival, suggesting its role as a tumor suppressor.[@schmitzGeneticsPathogenesisDiffuse2018] KLHL14 loss has been shown to BCR-dependent NF-κB activation and cell survival in DLBCL.[@schmitzGeneticsPathogenesisDiffuse2018] This gene has some mutation hotspots but the patter of mutation overall is consistent with its role as a tumor suppressor gene.

Experimental Evidence

Driver mutations affecting this gene in DLBCL have been experimentally demonstrated to cause a reduction or loss of function (LOF).[@choiRegulationCellReceptordependent2020]

Relevance tier by entity

include:tables/table1_KLHL14.md

Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

include:tables/DLBCL_KLHL14.md

Mutation pattern and selective pressure estimates

include:tables/dnds_KLHL14.md

Expression

KLHL14 Hotspots

Chromosome	Coordinate (hg19)	ref>alt	HGVSp
chr18	30349909	G>A	L216F
chr18	30349905	T>G	N217T
chr18	30349902	A>C	F218C
chr18	30349882	G>C	L225V

include:tables/browser_KLHL14.md

include:tables/mermaid_KLHL14.md

References