| Variant ID | 16961 |
|---|---|
| Entrez Gene ID | 1634 |
| Gene | DCN (GeneCards) |
| Location | hg19 12:91960849-91960849
hg38 12:91567072-91567072 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.91960849 C>T (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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.4636 |
| CADD Raw score (version 1.3) | -0.524543 (Deleterious) |
| FATHMM raw prediction score | 0.10159 (Tolerated) |
| Deleterious probability by DeFine | 0.3394 (Neutral) |
| Entrez Gene ID | 1634 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DCN (GeneCards) |
| Number of variants in DCN in this database | 10 (view all the variants) |
| Full name | decorin |
| Band | 12q21.33 |
| Other IDs | Vega: OTTHUMG00000169998 OMIM: 125255 HGNC: HGNC:2705 Ensembl: ENSG00000011465 |
| Other names | CSCD, PG40, PGII, PGS2, DSPG2, SLRR1B |
| Summary | This gene encodes a member of the small leucine-rich proteoglycan family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature protein. This protein plays a role in collagen fibril assembly. Binding of this protein to multiple cell surface receptors mediates its role in tumor suppression, including a stimulatory effect on autophagy and inflammation and an inhibitory effect on angiogenesis and tumorigenesis. This gene and the related gene biglycan are thought to be the result of a gene duplication. Mutations in this gene are associated with congenital stromal corneal dystrophy in human patients. [provided by RefSeq, Nov 2015] |
| 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; |