| Variant ID | 29539 |
|---|---|
| Entrez Gene ID | 55763 |
| Gene | EXOC1 (GeneCards) |
| Location | hg19 4:56756552-56756552
hg38 4:55890386-55890386 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000004.11:g.56756552 G>T (Genome Assembly: hg19) |
| 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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.6765 |
| CADD Raw score (version 1.3) | 5.004889 (Deleterious) |
| FATHMM raw prediction score | 0.99414 (Tolerated) |
| SIFT score | 0.151 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.265 (Tolerated) |
| PROVEAN score | -1.07 (Tolerated) |
| MetaSVM score | -0.683 (Tolerated) |
| MetaLR score | 0.27 (Tolerated) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.45 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.602 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.284 |
| Deleterious probability by iFish2 | 0.9577 (Deleterious) |
| Deleterious probability by DeFine | 0.9472 (Deleterious) |
| Entrez Gene ID | 55763 (NCBI Gene) |
|---|---|
| Official Gene Symbol | EXOC1 (GeneCards) |
| Number of variants in EXOC1 in this database | 1 (view all the variants) |
| Full name | exocyst complex component 1 |
| Band | 4q12 |
| Other IDs | Vega: OTTHUMG00000102165 OMIM: 607879 HGNC: HGNC:30380 Ensembl: ENSG00000090989 |
| Other names | SEC3, SEC3P, BM-102, SEC3L1 |
| Summary | The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of the exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.215 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |