FBXO11

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bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @parryWholeExomeSequencing2013, @richterRecurrentMutationID32012, @hubschmannMutationalMechanismsShaping2021, @arthurGenomewideDiscoverySomatic2018

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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

include:tables/table1_FBXO11

Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

include:tables/DLBCL_FBXO11.md

BL

include:tables/BL_FBXO11.md

Mutation pattern and selective pressure estimates

include:tables/dnds_FBXO11.md

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

References