| Variant ID | 11512 |
|---|---|
| Entrez Gene ID | 55253 |
| Gene | TYW1 (GeneCards) |
| Location | hg19 7:66700284-66700284
hg38 7:67235297-67235297 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.66700284 A>T (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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2187 |
| CADD Raw score (version 1.3) | -0.221871 (Deleterious) |
| FATHMM raw prediction score | 0.08315 (Tolerated) |
| Deleterious probability by DeFine | 0.1982 (Neutral) |
| Entrez Gene ID | 55253 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TYW1 (GeneCards) |
| Number of variants in TYW1 in this database | 4 (view all the variants) |
| Full name | tRNA-yW synthesizing protein 1 homolog |
| Band | 7q11.21 |
| Other IDs | Vega: OTTHUMG00000129723 OMIM: 611243 HGNC: HGNC:25598 Ensembl: ENSG00000198874 |
| Other names | TYW1A, RSAFD1, YPL207W |
| Summary | Wybutosine (yW) is a hypermodified guanosine found in phenylalanine tRNA adjacent to the anticodon that stabilizes codon-anticodon interactions in the ribosome. In yeast, the homolog of this gene is essential for the synthesis of wybutosine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] |
| Individual ID | 29217584.22 (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; |