| Variant ID | 29116 |
|---|---|
| Entrez Gene ID | 57617 |
| Gene | VPS18 (GeneCards) |
| Location | hg19 15:41192955-41192955
hg38 15:40900757-40900757 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | HiSeq Pyrosequencing |
| Mutation(HGVS format) | NC_000015.9:g.41192955 C>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 | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0.0000323 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs147820290 |
| EIGEN score | 0.8635 |
| CADD Raw score (version 1.3) | 6.604229 (Deleterious) |
| FATHMM raw prediction score | 0.88562 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.23 (Deleterious) |
| PROVEAN score | -6.65 (Deleterious) |
| MetaSVM score | -0.686 (Tolerated) |
| MetaLR score | 0.186 (Tolerated) |
| MCAP score | 0.064 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.84 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.099 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.018 |
| Deleterious probability by iFish2 | 0.9849 (Deleterious) |
| Deleterious probability by DeFine | 0.9746 (Deleterious) |
| Entrez Gene ID | 57617 (NCBI Gene) |
|---|---|
| Official Gene Symbol | VPS18 (GeneCards) |
| Number of variants in VPS18 in this database | 3 (view all the variants) |
| Full name | VPS18, CORVET/HOPS core subunit |
| Band | 15q15.1 |
| Other IDs | Vega: OTTHUMG00000130135 OMIM: 608551 HGNC: HGNC:15972 Ensembl: ENSG00000104142 |
| Other names | PEP3 |
| Summary | Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps18 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. [provided by RefSeq, Jul 2008] |
| Individual ID | 27632392.09 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27632392 |
| Whose mosaic mutation | 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 | 27632392 |
|---|---|
| Title | The Contribution of Mosaic Variants to Autism Spectrum Disorder |
| Journal | PLoS Genetics |
| Publication date | 2016.09 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 16; |