LFNG |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- LFNG (HGNC:6560) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- SCDO3
- %HI
- 18.77(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.02(Read more about gnomAD pLI score)
- LOEUF
- 0.76(Read more about gnomAD LOEUF score)
- Cytoband
- 7p22.3
- Genomic Coordinates
-
GRCh37/hg19: chr7:2552163-2568811 NCBI Ensembl UCSC GRCh38/hg38: chr7:2512529-2529177 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001040167.2 ENST00000222725.10 (Read more about MANE Select)
- Function
- Glycosyltransferase that initiates the elongation of O-linked fucose residues attached to EGF-like repeats in the extracellular domain of Notch molecules. Modulates NOTCH1 activity by modifying O- fucose residues at specific EGF-like domains resulting in inhibition of NOTCH1 activation by JAG1 and enhancement of NOTCH1 activation by DLL1 via an increase in its binding to DLL1 (By similarity). Decreases the binding of JAG1 to NOTCH2 but not that of DLL1 (PubMed:11346656). Essential mediator of so... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-20160
ClinGen Curation ID:
CCID:007399
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- spondylocostal dysostosis 3, autosomal recessive Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000007.13)
(NC_000007.14)