| Variant ID | 16096 |
|---|---|
| Entrez Gene ID | 1368 |
| Gene | CPM (GeneCards) |
| Location | hg19 12:69394058-69394058
hg38 12:69000278-69000278 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.69394058 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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2593 |
| CADD Raw score (version 1.3) | -0.335613 (Deleterious) |
| FATHMM raw prediction score | 0.14328 (Tolerated) |
| Deleterious probability by DeFine | 0.359 (Neutral) |
| Entrez Gene ID | 1368 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CPM (GeneCards) |
| Number of variants in CPM in this database | 7 (view all the variants) |
| Full name | carboxypeptidase M |
| Band | 12q15 |
| Other IDs | Vega: OTTHUMG00000169300 OMIM: 114860 HGNC: HGNC:2311 Ensembl: ENSG00000135678 |
| Other names | None |
| Summary | The protein encoded by this gene is a membrane-bound arginine/lysine carboxypeptidase. Its expression is associated with monocyte to macrophage differentiation. This encoded protein contains hydrophobic regions at the amino and carboxy termini and has 6 potential asparagine-linked glycosylation sites. The active site residues of carboxypeptidases A and B are conserved in this protein. Three alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |