| Variant ID | 8707 |
|---|---|
| Entrez Gene ID | 6695 |
| Gene | SPOCK1 (GeneCards) |
| Location | hg19 5:136407649-136407649
hg38 5:137071960-137071960 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.136407649 T>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 | -0.2438 |
| CADD Raw score (version 1.3) | 0.087089 (Deleterious) |
| FATHMM raw prediction score | 0.15098 (Tolerated) |
| Deleterious probability by DeFine | 0.5237 (Deleterious) |
| Entrez Gene ID | 6695 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SPOCK1 (GeneCards) |
| Number of variants in SPOCK1 in this database | 5 (view all the variants) |
| Full name | SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1 |
| Band | 5q31.2 |
| Other IDs | Vega: OTTHUMG00000129157 OMIM: 602264 HGNC: HGNC:11251 Ensembl: ENSG00000152377 |
| Other names | TIC1, SPOCK, TESTICAN |
| Summary | This gene encodes the protein core of a seminal plasma proteoglycan containing chondroitin- and heparan-sulfate chains. The protein's function is unknown, although similarity to thyropin-type cysteine protease-inhibitors suggests its function may be related to protease inhibition. [provided by RefSeq, Jul 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; |