| Variant ID | 29545 |
|---|---|
| Entrez Gene ID | 6098 |
| Gene | ROS1 (GeneCards) |
| Location | hg19 6:117725523-117725523
hg38 6:117404360-117404360 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000006.11:g.117725523 T>G (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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2304 |
| CADD Raw score (version 1.3) | 4.922678 (Deleterious) |
| FATHMM raw prediction score | 0.82907 (Tolerated) |
| SIFT score | 0.018 (Deleterious) |
| LRT score | 0.078 (Tolerated) |
| MutationTaster score | 0.913 (Tolerated) |
| MutatioinAssessor score | 2.045 (Deleterious) |
| PROVEAN score | -1.03 (Tolerated) |
| MetaSVM score | -0.967 (Tolerated) |
| MetaLR score | 0.104 (Tolerated) |
| MCAP score | 0.032 (Deleterious) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.33 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.263 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 7.937 |
| Deleterious probability by iFish2 | 0.1384 (Neutral) |
| Deleterious probability by DeFine | 0.8597 (Deleterious) |
| Entrez Gene ID | 6098 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ROS1 (GeneCards) |
| Number of variants in ROS1 in this database | 4 (view all the variants) |
| Full name | ROS proto-oncogene 1, receptor tyrosine kinase |
| Band | 6q22.1 |
| Other IDs | Vega: OTTHUMG00000016188 OMIM: 165020 HGNC: HGNC:10261 Ensembl: ENSG00000047936 |
| Other names | ROS, MCF3, c-ros-1 |
| Summary | This proto-oncogene, highly-expressed in a variety of tumor cell lines, belongs to the sevenless subfamily of tyrosine kinase insulin receptor genes. The protein encoded by this gene is a type I integral membrane protein with tyrosine kinase activity. The protein may function as a growth or differentiation factor receptor. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.221 (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; |