| Variant ID | 7377 |
|---|---|
| Entrez Gene ID | 1519 |
| Gene | CTSO (GeneCards) |
| Location | hg19 4:156872820-156872820
hg38 4:155951668-155951668 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000004.11:g.156872820 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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0834 |
| CADD Raw score (version 1.3) | 0.049929 (Deleterious) |
| FATHMM raw prediction score | 0.11767 (Tolerated) |
| Deleterious probability by DeFine | 0.3116 (Neutral) |
| Entrez Gene ID | 1519 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CTSO (GeneCards) |
| Number of variants in CTSO in this database | 5 (view all the variants) |
| Full name | cathepsin O |
| Band | 4q32.1 |
| Other IDs | Vega: OTTHUMG00000161942 OMIM: 600550 HGNC: HGNC:2542 Ensembl: ENSG00000256043 |
| Other names | CTSO1 |
| Summary | The protein encoded by the gene is a cysteine proteinase and a member of the papain superfamily. This proteolytic enzyme is involved in cellular protein degradation and turnover. The recombinant form of this enzyme was shown to degrade synthetic peptides typically used as substrates for cysteine proteinases and its proteolytic activity was abolished by an inhibitor of cyteine proteinase. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.23 (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; |