| Variant ID | 29464 |
|---|---|
| Entrez Gene ID | 166824 |
| Gene | RASSF6 (GeneCards) |
| Location | hg19 4:74450943-74450943
hg38 4:73585226-73585226 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000004.11:g.74450943 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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -1.1101 |
| CADD Raw score (version 1.3) | -1.158537 (Deleterious) |
| FATHMM raw prediction score | 0.04065 (Tolerated) |
| SIFT score | 1 (Tolerated) |
| LRT score | 0.019 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 1.655 (Tolerated) |
| PROVEAN score | -0.49 (Tolerated) |
| MetaSVM score | -0.992 (Tolerated) |
| MetaLR score | 0.037 (Tolerated) |
| MCAP score | 0.006 (Tolerated) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 2.29 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.428 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 7.314 |
| Deleterious probability by iFish2 | 0.0064 (Neutral) |
| Deleterious probability by DeFine | 0.7818 (Deleterious) |
| Entrez Gene ID | 166824 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RASSF6 (GeneCards) |
| Number of variants in RASSF6 in this database | 1 (view all the variants) |
| Full name | Ras association domain family member 6 |
| Band | 4q13.3 |
| Other IDs | Vega: OTTHUMG00000130007 OMIM: 612620 HGNC: HGNC:20796 Ensembl: ENSG00000169435 |
| Other names | None |
| Summary | This gene encodes a member of the Ras-association domain family (RASSF). Members of this family form the core of a highly conserved tumor suppressor network, the Salvador-Warts-Hippo (SWH) pathway. The protein encoded by this gene is a Ras effector protein that induces apoptosis. A genomic region containing this gene has been linked to susceptibility to viral bronchiolitis. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012] |
| Individual ID | 28714951.140 (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; |