| Variant ID | 21026 |
|---|---|
| Entrez Gene ID | 5329 |
| Gene | PLAUR (GeneCards) |
| Location | hg19 19:44184885-44184885
hg38 19:43680733-43680733 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000019.9:g.44184885 C>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 | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.4112 |
| CADD Raw score (version 1.3) | -0.049253 (Deleterious) |
| FATHMM raw prediction score | 0.0484 (Tolerated) |
| Deleterious probability by DeFine | 0.1724 (Neutral) |
| Entrez Gene ID | 5329 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PLAUR (GeneCards) |
| Number of variants in PLAUR in this database | 1 (view all the variants) |
| Full name | plasminogen activator, urokinase receptor |
| Band | 19q13.31 |
| Other IDs | Vega: OTTHUMG00000182778 OMIM: 173391 HGNC: HGNC:9053 Ensembl: ENSG00000011422 |
| Other names | CD87, UPAR, URKR, U-PAR |
| Summary | This gene encodes the receptor for urokinase plasminogen activator and, given its role in localizing and promoting plasmin formation, likely influences many normal and pathological processes related to cell-surface plasminogen activation and localized degradation of the extracellular matrix. It binds both the proprotein and mature forms of urokinase plasminogen activator and permits the activation of the receptor-bound pro-enzyme by plasmin. The protein lacks transmembrane or cytoplasmic domains and may be anchored to the plasma membrane by a glycosyl-phosphatidylinositol (GPI) moiety following cleavage of the nascent polypeptide near its carboxy-terminus. However, a soluble protein is also produced in some cell types. Alternative splicing results in multiple transcript variants encoding different isoforms. The proprotein experiences several post-translational cleavage reactions that have not yet been fully defined. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.16 (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; |