FBXO11 - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true
FBXO11
Overview
Somatic mutations in FBXO11 are common in BL[@richterRecurrentMutationID32012a] and appear in a small number of DLBCLs.[@hubschmannMutationalMechanismsShaping2021b] This gene has some recurrent sites of mutations (hot spots). Mutations lead to stabilization of BCL6, an important transcriptional repressor involved in lymphomagenesis. These mutations present a potential novel target for therapeutic intervention, particularly through strategies aimed at degrading BCL6 or inhibiting its function.
%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
timeline
title Publication timing
2012-11-11 : Richter : BL
2013-12-13 : Parry : MZL
2018-10-01 : Arthur : DLBCL
2021-05-05 : Hübschmann : DLBCL
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
2 | relevance in MZL not firmly established[@parryWholeExomeSequencing2013] |
 |
1 | high-confidence BL gene [@richterRecurrentMutationID32012a] |
 |
1 | high-confidence DLBCL gene[@hubschmannMutationalMechanismsShaping2021b; @arthurGenomewideDiscoverySomatic2018] |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 23.79 |
| BL | Thomas cohort | 21.60 |
| BL | Panea cohort | 15.80 |
| DLBCL | GAMBL genomes | 3.82 |
| DLBCL | Schmitz cohort | 2.13 |
| DLBCL | Reddy cohort | 2.10 |
| DLBCL | Chapuy cohort | 2.56 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | Yes | 14.801 | 114.063 |
| DLBCL | No | Yes | 2.464 | 39.449 |
| FL | No | No | 8.837 | 0.000 |
FBXO11 hot spots
| Chromosome | Coordinate | Mutation | HGVSp |
|---|---|---|---|
| chr2 | 48040426 | T>A | N725I |
| chr2 | 48040427 | T>C | N725D |
| chr2 | 48040427 | T>G | N725H |
| chr2 | 48040427 | T>A | N725Y |
| chr2 | 48040488 | TA>GC | I704S |
| chr2 | 48040489 | A>C | I704R |
| chr2 | 48040495 | T>A | N702I |
| chr2 | 48040495 | T>C | N702S |
| chr2 | 48040496 | T>C | N702D |
| chr2 | 48040496 | T>A | N702Y |
| chr2 | 48040500 | T>A | E700D |
| chr2 | 48040500 | T>G | E700D |
| chr2 | 48040501 | T>A | E700V |
| chr2 | 48040510 | C>T | G697D |
| chr2 | 48040511 | C>G | G697R |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
FBXO11 Expression
