| Variant ID | 14736 |
|---|---|
| Entrez Gene ID | 1369 |
| Gene | CPN1 (GeneCards) |
| Location | hg19 10:101845778-101845778
hg38 10:100086021-100086021 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.101845778 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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3586 |
| CADD Raw score (version 1.3) | 0.074631 (Deleterious) |
| FATHMM raw prediction score | 0.15905 (Tolerated) |
| Deleterious probability by DeFine | 0.2843 (Neutral) |
| Entrez Gene ID | 1369 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CPN1 (GeneCards) |
| Number of variants in CPN1 in this database | 1 (view all the variants) |
| Full name | carboxypeptidase N subunit 1 |
| Band | 10q24.2 |
| Other IDs | Vega: OTTHUMG00000018896 OMIM: 603103 HGNC: HGNC:2312 Ensembl: ENSG00000120054 |
| Other names | CPN, SCPN |
| Summary | Carboxypeptidase N is a plasma metallo-protease that cleaves basic amino acids from the C terminal of peptides and proteins. The enzyme is important in the regulation of peptides like kinins and anaphylatoxins, and has also been known as kininase-1 and anaphylatoxin inactivator. This enzyme is a tetramer comprised of two identical regulatory subunits and two identical catalytic subunits; this gene encodes the catalytic subunit. Mutations in this gene can be associated with angioedema or chronic urticaria resulting from carboxypeptidase N deficiency. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.17 (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; |