FYCO1 |
- 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:
- cataract 18 Monarch
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)