• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
FYCO1 (HGNC:14673) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
FYVE and coiled-coil domain autophagy adaptor 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
FLJ13335, ZFYVE7
%HI
61.49(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.91(Read more about gnomAD LOEUF score)
Cytoband
3p21.31
Genomic Coordinates
GRCh37/hg19: chr3:45959395-46037316 NCBI Ensembl UCSC
GRCh38/hg38: chr3:45917903-45995824 NCBI Ensembl UCSC
MANE Select Transcript
NM_024513.4 ENST00000296137.7 (Read more about MANE Select)
Function
May mediate microtubule plus end-directed vesicle transport. {ECO:0000269|PubMed:20100911}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-35454
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
05/20/2015

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
HI Evidence Comments:
Variants in FYCO1 have been reported in individuals with autosomal recessive cataracts.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000003.11) (NC_000003.12)