| Variant ID | 5756 |
|---|---|
| Entrez Gene ID | 8618 |
| Gene | CADPS (GeneCards) |
| Location | hg19 3:63005992-63005992
hg38 3:63020316-63020316 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.63005992 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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0062 |
| CADD Raw score (version 1.3) | 1.347863 (Deleterious) |
| FATHMM raw prediction score | 0.18487 (Tolerated) |
| Deleterious probability by DeFine | 0.1862 (Neutral) |
| Entrez Gene ID | 8618 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CADPS (GeneCards) |
| Number of variants in CADPS in this database | 12 (view all the variants) |
| Full name | calcium dependent secretion activator |
| Band | 3p14.2 |
| Other IDs | Vega: OTTHUMG00000158651 OMIM: 604667 HGNC: HGNC:1426 Ensembl: ENSG00000163618 |
| Other names | CAPS, CAPS1, CADPS1, UNC-31 |
| Summary | This gene encodes a novel neural/endocrine-specific cytosolic and peripheral membrane protein required for the Ca2+-regulated exocytosis of secretory vesicles. The protein acts at a stage in exocytosis that follows ATP-dependent priming, which involves the essential synthesis of phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). Alternative splicing has been observed at this locus and three variants, encoding distinct isoforms, are described. [provided by RefSeq, Aug 2008] |
| 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; |