| Variant ID | 21784 |
|---|---|
| Entrez Gene ID | 7113 |
| Gene | TMPRSS2 (GeneCards) |
| Location | hg19 21:42838415-42838415
hg38 21:41466488-41466488 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000021.8:g.42838415 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 | 48129895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3829 |
| CADD Raw score (version 1.3) | -0.348605 (Deleterious) |
| FATHMM raw prediction score | 0.10646 (Tolerated) |
| Deleterious probability by DeFine | 0.3226 (Neutral) |
| Entrez Gene ID | 7113 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TMPRSS2 (GeneCards) |
| Number of variants in TMPRSS2 in this database | 6 (view all the variants) |
| Full name | transmembrane serine protease 2 |
| Band | 21q22.3 |
| Other IDs | Vega: OTTHUMG00000086762 OMIM: 602060 HGNC: HGNC:11876 Ensembl: ENSG00000184012 |
| Other names | PP9284, PRSS10 |
| Summary | This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a type II transmembrane domain, a receptor class A domain, a scavenger receptor cysteine-rich domain and a protease domain. Serine proteases are known to be involved in many physiological and pathological processes. This gene was demonstrated to be up-regulated by androgenic hormones in prostate cancer cells and down-regulated in androgen-independent prostate cancer tissue. The protease domain of this protein is thought to be cleaved and secreted into cell media after autocleavage. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008] |
| Individual ID | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |