NFKBIZ - morinlab/LLMPP GitHub Wiki
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NFKBIZ
Overview
The NFKBIZ gene is a significant player in NF-κB signaling, with mutations leading to its deregulation. This pathway is critical in the pathogenesis of ABC DLBCL. NFKBIZ is one of a number of genes affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus. The predominant cluster of mutations in NFKBIZ is in the 3' UTR and not a consequence of aSHM. NFKBIZ 3' UTR mutations confer a selective growth advantage in DLBCL cells by stabilizing NFKBIZ mRNA, resulting in increased protein levels.[@arthurGenomewideDiscoverySomatic2018]
History
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timeline
title Publication timing
2016-05-01 : Morin : DLBCL
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
1-a | aSHM target and high-confidence DLBCL gene[@morinGeneticLandscapesRelapsed2016] |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 1.53 |
| DLBCL | Schmitz cohort | 1.28 |
| DLBCL | Reddy cohort | 1.50 |
| DLBCL | Chapuy cohort | 0.85 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | Yes | No | 3.346 | 0 |
| DLBCL | Yes | No | 2.091 | 0 |
| FL | Yes | No | 0.000 | 0 |
aSHM regions
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr3 | 101546669 | 101547704 | TSS-1 | active_promoter |
| chr3 | 101568239 | 101569274 | TSS-2 | active_promoter |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
NFKBIZ Expression
