| Variant ID | 29702 |
|---|---|
| Entrez Gene ID | 55187 |
| Gene | VPS13D (GeneCards) |
| Location | hg19 1:12428626-12428626
hg38 1:12368571-12368571 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000001.10:g.12428626 C>T (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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 1333347 |
| Variant occurences in COSMIC | 1(large_intestine) |
| EIGEN score | 0.7789 |
| CADD Raw score (version 1.3) | 15.381395 (Deleterious) |
| FATHMM raw prediction score | 0.98758 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.706 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.1 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.725 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.891 |
| Deleterious probability by DeFine | 0.9352 (Deleterious) |
| Entrez Gene ID | 55187 (NCBI Gene) |
|---|---|
| Official Gene Symbol | VPS13D (GeneCards) |
| Number of variants in VPS13D in this database | 5 (view all the variants) |
| Full name | vacuolar protein sorting 13 homolog D |
| Band | 1p36.22-p36.21 |
| Other IDs | Vega: OTTHUMG00000013155 OMIM: 608877 HGNC: HGNC:23595 Ensembl: ENSG00000048707 |
| Other names | None |
| Summary | This gene encodes a protein belonging to the vacuolar-protein-sorting-13 gene family. In yeast, vacuolar-protein-sorting-13 proteins are involved in trafficking of membrane proteins between the trans-Golgi network and the prevacuolar compartment. While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode distinct isoforms. [provided by RefSeq, Jul 2008] |
| Individual ID | 28867142.06 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Female 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; |