NFKBIA - morinlab/LLMPP GitHub Wiki


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NFKBIA

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.1

History

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timeline
    title Publication timing
      2009-09-15 : Lake : DLBCL
      2019-12-10 : Wienand : PMBL
      2023-07-26 : Russler-Germain : FL
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Relevance tier by entity

Entity Tier Description
PMBL 1 high-confidence PMBL/cHL/GZL gene[@wienandGenomicAnalysesFlowsorted2019b]
DLBCL 1 high-confidence DLBCL gene [@lakeMutationsNFKBIAEncoding2009]
FL 2 relevance in FL not firmly established[@russler-germainMutationsAssociatedProgression2023b]

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
DLBCL GAMBL genomes 4.40
DLBCL Schmitz cohort 3.83
DLBCL Reddy cohort 3.60
DLBCL Chapuy cohort 4.70
FL GAMBL genomes 0.69

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL No No 3.358 17.442
DLBCL No Yes 9.385 40.878
FL No No 0.000 28.519

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

NFKBIA Expression

References

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