FBXO11 - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @parryWholeExomeSequencing2013, @richterRecurrentMutationID32012, @hubschmannMutationalMechanismsShaping2021, @arthurGenomewideDiscoverySomatic2018
Overview
Somatic mutations in FBXO11 are common in BL[@richterRecurrentMutationID32012] and appear in a small number of DLBCLs.[@hubschmannMutationalMechanismsShaping2021] 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.
Experimental Evidence
Driver mutations affecting this gene in DLBCL/BL have been experimentally demonstrated to cause a reduction or loss of function (LOF).[@duanFBXO11TargetsBCL62011]
Relevance tier by entity
Mutation incidence in large patient cohorts (GAMBL reanalysis)
DLBCL
include:tables/DLBCL_FBXO11.md
BL
Mutation pattern and selective pressure estimates
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 |
include:tables/browser_FBXO11.md
Expression
include:tables/mermaid_FBXO11.md