NFKBIE - morinlab/LLMPP GitHub Wiki

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bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @pararajalingamCodingNoncodingDrivers2020, @mansouriFrequentNFKBIEDeletions2016, @morinGeneticLandscapesRelapsed2016,

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Overview

NFKBIE encodes IκBε, a negative regulator of NF-κB. Mutations in NFKBIE can disrupt this regulatory function, leading to constitutive activation of NF-κB signaling.[@mansouriFrequentNFKBIEDeletions2016] Mutations are relatively common in DLBCL and MCL.[@morinGeneticLandscapesRelapsed2016]

Experimental Evidence

Driver mutations affecting this gene in DLBCL have been experimentally demonstrated to cause a reduction or loss of function (LOF).[@mansouriFunctionalLossIkBe2015]

Relevance tier by entity

include:tables/table1_NFKBIE.md

Mutation incidence in large patient cohorts (GAMBL reanalysis)

MCL

include:tables/MCL_NFKBIE.md

DLBCL

include:tables/DLBCL_NFKBIE.md

Mutation pattern and selective pressure estimates

include:tables/dnds_NFKBIE.md

include:tables/browser_NFKBIE.md

Expression

include:tables/mermaid_NFKBIE.md

References