NFKBIA

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bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @wienandGenomicAnalysesFlowsorted2019, @lakeMutationsNFKBIAEncoding2009, @russler-germainMutationsAssociatedProgression2023,

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Overview

NFKBIA encodes IκBα, an inhibitor of NF-κB, which regulates the NF-κB signaling pathway by preventing the translocation of NF-κB to the nucleus. Mutations in NFKBIA can disrupt this regulation, leading to constitutive activation of NF-κB signaling, which has an important role in a subset of DLBCLs. Mutations and deletions in NFKBIA are observed in DLBCL and are associated with constitutive activation of the NF-κB pathway. These mutations often occur in the ABC subtype and are associated with the ST2 genetic subgroup of DLBCL.[@wienandGenomicAnalysesFlowsorted2019]

Experimental Evidence

Driver mutations affecting this gene in DLBCL have been experimentally demonstrated to cause a reduction or loss of function (LOF).[@jungnickelClonalDeleteriousMutations2000]

Relevance tier by entity

include:tables/table1_NFKBIA.md

Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

include:tables/DLBCL_NFKBIA.md

FL

include:tables/FL_NFKBIA.md

Mutation pattern and selective pressure estimates

include:tables/dnds_NFKBIA.md

include:tables/browser_NFKBIA.md

Expression

include:tables/mermaid_NFKBIA.md

References