| Variant ID | 6075 |
|---|---|
| Entrez Gene ID | 50859 |
| Gene | SPOCK3 (GeneCards) |
| Location | hg19 4:168899444-168899444
hg38 4:167978293-167978293 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000004.11:g.168899444 A>G (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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1562 |
| CADD Raw score (version 1.3) | 0.220601 (Deleterious) |
| FATHMM raw prediction score | 0.15695 (Tolerated) |
| Deleterious probability by DeFine | 0.0682 (Neutral) |
| Entrez Gene ID | 50859 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SPOCK3 (GeneCards) |
| Number of variants in SPOCK3 in this database | 26 (view all the variants) |
| Full name | SPARC (osteonectin), cwcv and kazal like domains proteoglycan 3 |
| Band | 4q32.3 |
| Other IDs | Vega: OTTHUMG00000161190 OMIM: 607989 HGNC: HGNC:13565 Ensembl: ENSG00000196104 |
| Other names | TES-3, TICN3, HSAJ1454 |
| Summary | This gene encodes a member of a novel family of calcium-binding proteoglycan proteins that contain thyroglobulin type-1 and Kazal-like domains. The encoded protein and may play a role in adult T-cell leukemia by inhibiting the activity of membrane-type matrix metalloproteinases. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |