| Variant ID | 29794 |
|---|---|
| Entrez Gene ID | 23345 |
| Gene | SYNE1 (GeneCards) |
| Location | hg19 6:152782817-152782817
hg38 6:152461682-152461682 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000006.11:g.152782817 G>A (Genome Assembly: hg19) |
| 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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2302 |
| CADD Raw score (version 1.3) | 2.594792 (Deleterious) |
| FATHMM raw prediction score | 0.87099 (Tolerated) |
| SIFT score | 0.009 (Deleterious) |
| LRT score | 0 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.44 (Deleterious) |
| PROVEAN score | -1.36 (Tolerated) |
| MetaSVM score | 0.177 (Deleterious) |
| MetaLR score | 0.645 (Deleterious) |
| MCAP score | 0.059 (Deleterious) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.16 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.329 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 12.445 |
| Deleterious probability by iFish2 | 0.754 (Deleterious) |
| Deleterious probability by DeFine | 0.9205 (Deleterious) |
| Entrez Gene ID | 23345 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SYNE1 (GeneCards) |
| Number of variants in SYNE1 in this database | 8 (view all the variants) |
| Full name | spectrin repeat containing nuclear envelope protein 1 |
| Band | 6q25.2 |
| Other IDs | Vega: OTTHUMG00000015841 OMIM: 608441 HGNC: HGNC:17089 Ensembl: ENSG00000131018 |
| Other names | 8B, CPG2, ARCA1, EDMD4, KASH1, MYNE1, Nesp1, SCAR8, C6orf98, dJ45H2.2 |
| Summary | This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] |
| Individual ID | 28867142.39 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |