• 0
    Haplo
    Score
  • 1
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
FBXW11 (HGNC:13607) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
F-box and WD repeat domain containing 11
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
FBXW1B
Alias symbols
KIAA0696, Fbw1b, BTRCP2, BTRC2, Hos, Fbw11
%HI
10.37(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.98(Read more about gnomAD pLI score)
LOEUF
0.31(Read more about gnomAD LOEUF score)
Cytoband
5q35.1
Genomic Coordinates
GRCh37/hg19: chr5:171288553-171433642 NCBI Ensembl UCSC
GRCh38/hg38: chr5:171861549-172006638 NCBI Ensembl UCSC
MANE Select Transcript
NM_001378974.1 ENST00000517395.6 (Read more about MANE Select)
Function
Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:10437795, PubMed:11158290, PubMed:10648623, PubMed:20347421, PubMed:19966869, PubMed:22017875, PubMed:22017876, PubMed:36608670). Probably recognizes and binds to phosphorylated target proteins: the interaction with substrates requires the phosphorylation of the two serine residues in the substra... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-7237
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
Little Evidence for Triplosensitivity (1)
Last Evaluated:
12/07/2011

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)

Triplosensitivity (TS) Score Details

TS Score:
1
TS Evidence Strength:
Little Evidence for Triplosensitivity (Disclaimer)
TS Published Evidence:
  • PUBMED: 16865294
    Koolen et al describe a 1.25 Mb dup that includes FBXW11 in a patient with holoprosencephaly and preaxial polydactyly. They proposed that FBXW11 is a candidate gene to explain phenotype. There are no other published descriptions of duplications of FBXW11 specifically.

Genomic View

Select assembly: (NC_000005.9) (NC_000005.10)