| Variant ID | 16936 |
|---|---|
| Entrez Gene ID | 22818 |
| Gene | COPZ1 (GeneCards) |
| Location | hg19 12:54723047-54723047
hg38 12:54329263-54329263 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.54723047 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 | 0.3722 |
| CADD Raw score (version 1.3) | 0.510184 (Deleterious) |
| FATHMM raw prediction score | 0.15527 (Tolerated) |
| Deleterious probability by DeFine | 0.5709 (Deleterious) |
| Entrez Gene ID | 22818 (NCBI Gene) |
|---|---|
| Official Gene Symbol | COPZ1 (GeneCards) |
| Number of variants in COPZ1 in this database | 2 (view all the variants) |
| Full name | coatomer protein complex subunit zeta 1 |
| Band | 12q13.13 |
| Other IDs | Vega: OTTHUMG00000169762 OMIM: 615472 HGNC: HGNC:2243 Ensembl: ENSG00000111481 |
| Other names | COPZ, CGI-120, HSPC181, zeta-COP, zeta1-COP |
| Summary | This gene encodes a subunit of the cytoplasmic coatamer protein complex, which is involved in autophagy and intracellular protein trafficking. The coatomer protein complex is comprised of seven subunits and functions as the coat protein of coat protein complex (COP)I-vesicles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] |
| 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; |