SYP |
- 1
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- SYP (HGNC:11506) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- synaptophysin
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- MRX96
- %HI
- 3.93(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.92(Read more about gnomAD pLI score)
- LOEUF
- 0.39(Read more about gnomAD LOEUF score)
- Cytoband
- Xp11.23
- Genomic Coordinates
-
GRCh37/hg19: chrX:49044268-49056652 NCBI Ensembl UCSC GRCh38/hg38: chrX:49187815-49200193 NCBI Ensembl UCSC - MANE Select Transcript
- NM_003179.3 ENST00000263233.9 (Read more about MANE Select)
- Function
- Possibly involved in structural functions as organizing other membrane components or in targeting the vesicles to the plasma membrane. Involved in the regulation of short-term and long-term synaptic plasticity (By similarity). {ECO:0000250}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Haploinsufficiency (HI) Score Details
- intellectual disability, X-linked 96 Monarch
-
PUBMED:
19377476
Tarpey et al. (2009): Three SYP truncating variants were found in 1,122 XLMR-affected subjects examined (274_275insA, T92fs*45; 177_178CA>GT, N59_K604K*; and 829_832delGACT, D227fs*59). The first two truncating variants segregate with the disease (combined lod score 1.7). Samples were not available for segregation evaluation on the third mutation. There were no truncating variants in 1,401 controls. A missense variant (649G>C, G217R) found in a single subject with intellectual disability at an amino acid residue that is highly conserved and which segregated with intellectual disability (lod score 1.8) was also thought to be implicated in disease causation.
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
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.