| Variant ID | 21893 |
|---|---|
| Entrez Gene ID | 8224 |
| Gene | SYN3 (GeneCards) |
| Location | hg19 22:33175431-33175431
hg38 22:32779445-32779445 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000022.10:g.33175431 G>A (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 51304566 |
| MAF in gnomAD genome (version 2.0.1) | 0.0001 |
|---|---|
| EIGEN score | -0.3682 |
| CADD Raw score (version 1.3) | -0.206195 (Deleterious) |
| FATHMM raw prediction score | 0.09373 (Tolerated) |
| Deleterious probability by DeFine | 0.405 (Neutral) |
| Entrez Gene ID | 8224 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SYN3 (GeneCards) |
| Number of variants in SYN3 in this database | 6 (view all the variants) |
| Full name | synapsin III |
| Band | 22q12.3 |
| Other IDs | Vega: OTTHUMG00000031004 OMIM: 602705 HGNC: HGNC:11496 Ensembl: ENSG00000185666 |
| Other names | None |
| Summary | This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. The protein encoded by this gene shares the synapsin family domain model, with domains A, C, and E exhibiting the highest degree of conservation. The protein contains a unique domain J, located between domains C and E. Based on this gene's localization to 22q12.3, a possible schizophrenia susceptibility locus, and the established neurobiological roles of the synapsins, this family member may represent a candidate gene for schizophrenia. The TIMP3 gene is located within an intron of this gene and is transcribed in the opposite direction. Alternative splicing of this gene results in multiple splice variants that encode different isoforms. [provided by RefSeq, Oct 2008] |
| Individual ID | 29217584.10 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |