| Variant ID | 29270 |
|---|---|
| Entrez Gene ID | 157680 |
| Gene | VPS13B (GeneCards) |
| Location | hg19 8:100791009-100791009
hg38 8:99778781-99778781 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000008.10:g.100791009 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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0.0000323 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs146092684 |
| EIGEN score | -0.1279 |
| CADD Raw score (version 1.3) | 3.835555 (Deleterious) |
| FATHMM raw prediction score | 0.94701 (Tolerated) |
| SIFT score | 0.155 (Tolerated) |
| LRT score | 0 (Tolerated) |
| MutationTaster score | 0.887 (Deleterious) |
| MutatioinAssessor score | 1.98 (Deleterious) |
| PROVEAN score | -1.22 (Tolerated) |
| MetaSVM score | -0.941 (Tolerated) |
| MetaLR score | 0.17 (Tolerated) |
| MCAP score | 0.037 (Deleterious) |
| FitCons score | 0.638 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.6 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.184 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 10.843 |
| Deleterious probability by iFish2 | 0.0804 (Neutral) |
| Deleterious probability by DeFine | 0.9564 (Deleterious) |
| Entrez Gene ID | 157680 (NCBI Gene) |
|---|---|
| Official Gene Symbol | VPS13B (GeneCards) |
| Number of variants in VPS13B in this database | 4 (view all the variants) |
| Full name | vacuolar protein sorting 13 homolog B |
| Band | 8q22.2 |
| Other IDs | Vega: OTTHUMG00000140383 OMIM: 607817 HGNC: HGNC:2183 Ensembl: ENSG00000132549 |
| Other names | CHS1, COH1 |
| Summary | This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central nervous system. Mutations in this gene have been associated with Cohen syndrome. Multiple splice variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] |
| Individual ID | 28503910.147 (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; |