| Variant ID | 800 |
|---|---|
| Entrez Gene ID | 8460 |
| Gene | TPST1 (GeneCards) |
| Location | hg19 7:65706132-65706132
hg38 7:66241145-66241145 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000007.13:g.65706132 A>G (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 240 |
| Amino acid changes in protein | E > E |
| 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 | 0.7463 |
| CADD Raw score (version 1.3) | -0.206613 (Deleterious) |
| FATHMM raw prediction score | 0.84117 (Tolerated) |
| Deleterious probability by DeFine | 0.784 (Deleterious) |
| Entrez Gene ID | 8460 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TPST1 (GeneCards) |
| Number of variants in TPST1 in this database | 3 (view all the variants) |
| Full name | tyrosylprotein sulfotransferase 1 |
| Band | 7q11.21 |
| Other IDs | Vega: OTTHUMG00000023871 OMIM: 603125 HGNC: HGNC:12020 Ensembl: ENSG00000169902 |
| Other names | TANGO13A |
| Summary | None |
| Individual ID | 27788131.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |