• 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
VAMP7 (HGNC:11486) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
vesicle associated membrane protein 7
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
SYBL1
Alias symbols
VAMP-7, TI-VAMP
%HI
56.22(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.01(Read more about gnomAD pLI score)
LOEUF
0.86(Read more about gnomAD LOEUF score)
Cytoband
Xq28 and Yq12
Genomic Coordinates
GRCh37/hg19: chrY:59214014-59276439 NCBI Ensembl UCSC
GRCh38/hg38: chrY:57067865-57130289 NCBI Ensembl UCSC
MANE Select Transcript
NM_005638.6 ENST00000286448.12 (Read more about MANE Select)
Function
Involved in the targeting and/or fusion of transport vesicles to their target membrane during transport of proteins from the early endosome to the lysosome. Required for heterotypic fusion of late endosomes with lysosomes and homotypic lysosomal fusion. Required for calcium regulated lysosomal exocytosis. Involved in the export of chylomicrons from the endoplasmic reticulum to the cis Golgi. Required for exocytosis of mediators during eosinophil and neutrophil degranulation, and target cell kill... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-8506
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
09/06/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
Saito et al. (2000) PMID: 10898908 analyzed VAMP7 (aka SYBL1) in 110 patients with bipolar disorder and normal 119 controls and found a trending association of one SNP (G>C transversion in the polypyrimidine tract at the 3' splice acceptor site preceding exon 8) in the male patients compared to controls (p=.06). They did not see this association in females (p =.66). Muller et al. (2002) PMID: 11840509 did a follow-up study in a German population of 164 patients with bipolar disorder and 267 normal controls. They did not find a significant association with the SNP in males, but found a significant association of the homozygous SNP in female probands as compared to controls (p=0.017). Note that the authors mention that this result may be a false positive, since performing a Bonferroni correction results in a p-value of 0.051.
NOTE:

The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.

Triplosensitivity (TS) Score Details

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

The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.

Genomic View

Select assembly: (NC_000023.10) (NC_000023.11)