| Variant ID | 1144 |
|---|---|
| Entrez Gene ID | 8224 |
| Gene | SYN3 (GeneCards) |
| Location | hg19 22:33376685-33376685
hg38 22:32980700-32980700 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000022.10:g.33376685 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 105 |
| Amino acid changes in protein | S > L |
| 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 |
|---|---|
| Variant IDs in COSMIC (version 89) | 4103731 |
| Variant occurences in COSMIC | 1(stomach) |
| EIGEN score | -0.0678 |
| CADD Raw score (version 1.3) | 3.619381 (Deleterious) |
| FATHMM raw prediction score | 0.85289 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 0.999 (Deleterious) |
| MutatioinAssessor score | 0.85 (Tolerated) |
| PROVEAN score | -2.43 (Tolerated) |
| MetaSVM score | -1.051 (Tolerated) |
| MetaLR score | 0.069 (Tolerated) |
| MCAP score | 0.013 (Tolerated) |
| FitCons score | 0.719 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.63 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.545 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.997 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 13.327 |
| Deleterious probability by iFish2 | 0.3001 (Neutral) |
| Deleterious probability by DeFine | 0.9381 (Deleterious) |
| 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 | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |