| Variant ID | 8625 |
|---|---|
| Entrez Gene ID | 831 |
| Gene | CAST (GeneCards) |
| Location | hg19 5:96000812-96000812
hg38 5:96665108-96665108 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.96000812 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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.12 |
| CADD Raw score (version 1.3) | -0.115083 (Deleterious) |
| FATHMM raw prediction score | 0.14532 (Tolerated) |
| Deleterious probability by DeFine | 0.66 (Deleterious) |
| Entrez Gene ID | 831 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CAST (GeneCards) |
| Number of variants in CAST in this database | 1 (view all the variants) |
| Full name | calpastatin |
| Band | 5q15 |
| Other IDs | Vega: OTTHUMG00000128413 OMIM: 114090 HGNC: HGNC:1515 Ensembl: ENSG00000153113 |
| Other names | BS-17, PLACK |
| Summary | The protein encoded by this gene is an endogenous calpain (calcium-dependent cysteine protease) inhibitor. It consists of an N-terminal domain L and four repetitive calpain-inhibition domains (domains 1-4), and it is involved in the proteolysis of amyloid precursor protein. The calpain/calpastatin system is involved in numerous membrane fusion events, such as neural vesicle exocytosis and platelet and red-cell aggregation. The encoded protein is also thought to affect the expression levels of genes encoding structural or regulatory proteins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2010] |
| 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; |