| Variant ID | 14316 |
|---|---|
| Entrez Gene ID | 6251 |
| Gene | RSU1 (GeneCards) |
| Location | hg19 10:16684773-16684773
hg38 10:16642774-16642774 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.16684773 G>A (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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003232 |
|---|---|
| EIGEN score | 0.157 |
| CADD Raw score (version 1.3) | -0.047972 (Deleterious) |
| FATHMM raw prediction score | 0.07574 (Tolerated) |
| Deleterious probability by DeFine | 0.5279 (Deleterious) |
| Entrez Gene ID | 6251 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RSU1 (GeneCards) |
| Number of variants in RSU1 in this database | 3 (view all the variants) |
| Full name | Ras suppressor protein 1 |
| Band | 10p13 |
| Other IDs | Vega: OTTHUMG00000017740 OMIM: 179555 HGNC: HGNC:10464 Ensembl: ENSG00000148484 |
| Other names | RSP-1 |
| Summary | This gene encodes a protein that is involved in the Ras signal transduction pathway, growth inhibition, and nerve-growth factor induced differentiation processes, as determined in mouse and human cell line studies. In mouse, the encoded protein was initially isolated based on its ability to inhibit v-Ras transformation. Multiple alternatively spliced transcript variants for this gene have been reported; one of these variants was found only in glioma tumors. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.11 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |