| Variant ID | 29311 |
|---|---|
| Entrez Gene ID | 9627 |
| Gene | SNCAIP (GeneCards) |
| Location | hg19 5:121761186-121761186
hg38 5:122425491-122425491 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000005.9:g.121761186 G>A (Genome Assembly: GRCh37) |
| Exon or Intron | Exon |
|---|---|
| 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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.8781 |
| CADD Raw score (version 1.3) | 7.188212 (Deleterious) |
| FATHMM raw prediction score | 0.98694 (Tolerated) |
| SIFT score | 0.003 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.97 (Deleterious) |
| PROVEAN score | -2.16 (Tolerated) |
| MetaSVM score | 0.034 (Deleterious) |
| MetaLR score | 0.52 (Deleterious) |
| MCAP score | 0.052 (Deleterious) |
| FitCons score | 0.706 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.67 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.298 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.773 |
| Deleterious probability by iFish2 | 0.8989 (Deleterious) |
| Deleterious probability by DeFine | 0.9557 (Deleterious) |
| Entrez Gene ID | 9627 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SNCAIP (GeneCards) |
| Number of variants in SNCAIP in this database | 2 (view all the variants) |
| Full name | synuclein alpha interacting protein |
| Band | 5q23.2 |
| Other IDs | Vega: OTTHUMG00000128915 OMIM: 603779 HGNC: HGNC:11139 Ensembl: ENSG00000064692 |
| Other names | Sph1, SYPH1 |
| Summary | This gene encodes a protein containing several protein-protein interaction domains, including ankyrin-like repeats, a coiled-coil domain, and an ATP/GTP-binding motif. The encoded protein interacts with alpha-synuclein in neuronal tissue and may play a role in the formation of cytoplasmic inclusions and neurodegeneration. A mutation in this gene has been associated with Parkinson's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015] |
| Individual ID | 28503910.188 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Normal |
| Phenotype | 2 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |