| Variant ID | 12610 |
|---|---|
| Entrez Gene ID | 57094 |
| Gene | CPA6 (GeneCards) |
| Location | hg19 8:68657294-68657294
hg38 8:67745059-67745059 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.68657294 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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1726 |
| CADD Raw score (version 1.3) | 0.666896 (Deleterious) |
| FATHMM raw prediction score | 0.12719 (Tolerated) |
| Deleterious probability by DeFine | 0.6106 (Deleterious) |
| Entrez Gene ID | 57094 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CPA6 (GeneCards) |
| Number of variants in CPA6 in this database | 6 (view all the variants) |
| Full name | carboxypeptidase A6 |
| Band | 8q13.2 |
| Other IDs | Vega: OTTHUMG00000164575 OMIM: 609562 HGNC: HGNC:17245 Ensembl: ENSG00000165078 |
| Other names | CPAH, ETL5, FEB11 |
| Summary | The gene encodes a member of the peptidase M14 family of metallocarboxypeptidases. The encoded preproprotein is proteolytically processed to generate the mature enzyme, which catalyzes the release of large hydrophobic C-terminal amino acids. This enzyme has functions ranging from digestion of food to selective biosynthesis of neuroendocrine peptides. Mutations in this gene may be linked to epilepsy and febrile seizures, and a translocation t(6;8)(q26;q13) involving this gene has been associated with Duane retraction syndrome. [provided by RefSeq, May 2016] |
| 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; |