| Variant ID | 10328 |
|---|---|
| Entrez Gene ID | 6098 |
| Gene | ROS1 (GeneCards) |
| Location | hg19 6:117636723-117636723
hg38 6:117315560-117315560 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.117636723 G>C (Genome Assembly: GRCh37) |
| 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 | -0.155 |
| CADD Raw score (version 1.3) | -0.440344 (Deleterious) |
| FATHMM raw prediction score | 0.08526 (Tolerated) |
| Deleterious probability by DeFine | 0.2371 (Neutral) |
| 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 | 29217584.24 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |