FBXO11

Overview

Somatic mutations in FBXO11 are common in BLrichterRecurrentMutationID32012a? 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
MZL 2 relevance in MZL not firmly established1
BL 1 high-confidence BL generichterRecurrentMutationID32012a?
DLBCL 1 high-confidence DLBCL gene2,hubschmannMutationalMechanismsShaping2021b?

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

References

1.
Parry M, Rose-Zerilli MJJ, Gibson J, Ennis S, Walewska R, Forster J, Parker H, Davis Z, Gardiner A, Collins A, Oscier DG, Strefford JC. Whole exome sequencing identifies novel recurrently mutated genes in patients with splenic marginal zone lymphoma. PLoS One. 2013;8(12):e83244. PMCID: PMC3862727
2.
Arthur SE, Jiang A, Grande BM, Alcaide M, Cojocaru R, Rushton CK, Mottok A, Hilton LK, Lat PK, Zhao EY, Culibrk L, Ennishi D, Jessa S, Chong L, Thomas N, Pararajalingam P, Meissner B, Boyle M, Davidson J, Bushell KR, Lai D, Farinha P, Slack GW, Morin GB, Shah S, Sen D, Jones SJM, Mungall AJ, Gascoyne RD, Audas TE, Unrau P, Marra MA, Connors JM, Steidl C, Scott DW, Morin RD. Genome-wide discovery of somatic regulatory variants in diffuse large B-cell lymphoma. Nat Commun. 2018 Oct 1;9(1):4001. PMCID: PMC6167379

Citing

If you use the information or data from this site, please cite

Krysta Coyle, Kostiantyn Dreval, Daniel Hodson and Ryan D. Morin. Audit of B-cell cancer genes. Blood Adv (2025) 9 (8): 2019–2031.

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