• 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SYT14 (HGNC:23143) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
synaptotagmin 14
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
sytXIV, FLJ34198
%HI
18.2(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.94(Read more about gnomAD pLI score)
LOEUF
0.34(Read more about gnomAD LOEUF score)
Cytoband
1q32.2
Genomic Coordinates
GRCh37/hg19: chr1:210111562-210344734 NCBI Ensembl UCSC
GRCh38/hg38: chr1:209938217-210171389 NCBI Ensembl UCSC
MANE Select Transcript
NM_001146262.4 ENST00000367019.6 (Read more about MANE Select)
Function
May be involved in the trafficking and exocytosis of secretory vesicles in non-neuronal tissues. Is Ca(2+)-independent. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-15125
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:
  • autosomal recessive spinocerebellar ataxia 11 Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000001.10) (NC_000001.11)