FBXW11 |
- 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)