| Variant ID | 7545 |
|---|---|
| Entrez Gene ID | 6678 |
| Gene | SPARC (GeneCards) |
| Location | hg19 5:151042171-151042171
hg38 5:151662610-151662610 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.151042171 T>C (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 | 0.7603 |
| CADD Raw score (version 1.3) | 0.903475 (Deleterious) |
| FATHMM raw prediction score | 0.21497 (Tolerated) |
| Deleterious probability by DeFine | 0.6124 (Deleterious) |
| Entrez Gene ID | 6678 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SPARC (GeneCards) |
| Number of variants in SPARC in this database | 1 (view all the variants) |
| Full name | secreted protein acidic and cysteine rich |
| Band | 5q33.1 |
| Other IDs | Vega: OTTHUMG00000130122 OMIM: 182120 HGNC: HGNC:11219 Ensembl: ENSG00000113140 |
| Other names | ON, OI17, BM-40 |
| Summary | This gene encodes a cysteine-rich acidic matrix-associated protein. The encoded protein is required for the collagen in bone to become calcified but is also involved in extracellular matrix synthesis and promotion of changes to cell shape. The gene product has been associated with tumor suppression but has also been correlated with metastasis based on changes to cell shape which can promote tumor cell invasion. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2015] |
| 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; |