| Variant ID | 29177 |
|---|---|
| Entrez Gene ID | 1634 |
| Gene | DCN (GeneCards) |
| Location | hg19 12:91558512-91558512
hg38 12:91164735-91164735 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000012.11:g.91558512 G>A (Genome Assembly: GRCh37) |
| Exon or Intron | Intron |
|---|---|
| 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 | 0.5451 |
| CADD Raw score (version 1.3) | 0.253142 (Deleterious) |
| FATHMM raw prediction score | 0.23318 (Tolerated) |
| Deleterious probability by DeFine | 0.6003 (Deleterious) |
| 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 | 28503910.54 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |