| Variant ID | 13700 |
|---|---|
| Entrez Gene ID | 5125 |
| Gene | PCSK5 (GeneCards) |
| Location | hg19 9:78805324-78805324
hg38 9:76190408-76190408 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000009.11:g.78805324 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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0328 |
| CADD Raw score (version 1.3) | 0.292536 (Deleterious) |
| FATHMM raw prediction score | 0.13591 (Tolerated) |
| Deleterious probability by DeFine | 0.3237 (Neutral) |
| Entrez Gene ID | 5125 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PCSK5 (GeneCards) |
| Number of variants in PCSK5 in this database | 6 (view all the variants) |
| Full name | proprotein convertase subtilisin/kexin type 5 |
| Band | 9q21.13 |
| Other IDs | Vega: OTTHUMG00000020039 OMIM: 600488 HGNC: HGNC:8747 Ensembl: ENSG00000099139 |
| Other names | PC5, PC6, PC6A, SPC6 |
| Summary | This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER. It then sorts to the trans-Golgi network where a second autocatalytic event takes place and the catalytic activity is acquired. This encoded protein is widely expressed and one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It mediates posttranslational endoproteolytic processing for several integrin alpha subunits and is thought to process prorenin, pro-membrane type-1 matrix metalloproteinase and HIV-1 glycoprotein gp160. Alternative splicing results in multiple transcript variants, some of which encode distinct isoforms, including a protease packaged into dense core granules (PC5A) and a type 1 membrane bound protease (PC5B). [provided by RefSeq, May 2014] |
| 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; |