| Variant ID | 29558 |
|---|---|
| Entrez Gene ID | 253260 |
| Gene | RICTOR (GeneCards) |
| Location | hg19 5:38947542-38947542
hg38 5:38947440-38947440 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000005.9:g.38947542 A>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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.7843 |
| CADD Raw score (version 1.3) | 5.112502 (Deleterious) |
| FATHMM raw prediction score | 0.98699 (Tolerated) |
| SIFT score | 0.034 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 0.805 (Tolerated) |
| PROVEAN score | -1.54 (Tolerated) |
| MetaSVM score | -0.324 (Tolerated) |
| MetaLR score | 0.352 (Tolerated) |
| MCAP score | 0.094 (Deleterious) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.68 |
| PhyloP score based on multiple alignment of 100 vertebrates | 8.779 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.936 |
| Deleterious probability by iFish2 | 0.7821 (Deleterious) |
| Deleterious probability by DeFine | 0.9404 (Deleterious) |
| Entrez Gene ID | 253260 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RICTOR (GeneCards) |
| Number of variants in RICTOR in this database | 1 (view all the variants) |
| Full name | RPTOR independent companion of MTOR complex 2 |
| Band | 5p13.1 |
| Other IDs | Vega: OTTHUMG00000162037 OMIM: 609022 HGNC: HGNC:28611 Ensembl: ENSG00000164327 |
| Other names | PIA, AVO3, hAVO3 |
| Summary | RICTOR and MTOR (FRAP1; MIM 601231) are components of a protein complex that integrates nutrient- and growth factor-derived signals to regulate cell growth (Sarbassov et al., 2004 [PubMed 15268862]).[supplied by OMIM, Mar 2008] |
| Individual ID | 28714951.234 (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; |