| Variant ID | 16112 |
|---|---|
| Entrez Gene ID | 117159 |
| Gene | DCD (GeneCards) |
| Location | hg19 12:55076786-55076786
hg38 12:54683002-54683002 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.55076786 G>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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0075 |
| CADD Raw score (version 1.3) | -0.037649 (Deleterious) |
| FATHMM raw prediction score | 0.19535 (Tolerated) |
| Deleterious probability by DeFine | 0.7733 (Deleterious) |
| Entrez Gene ID | 117159 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DCD (GeneCards) |
| Number of variants in DCD in this database | 1 (view all the variants) |
| Full name | dermcidin |
| Band | 12q13.2 |
| Other IDs | Vega: OTTHUMG00000169937 OMIM: 606634 HGNC: HGNC:14669 Ensembl: ENSG00000161634 |
| Other names | PIF, AIDD, DSEP, HCAP, DCD-1 |
| Summary | This antimicrobial gene encodes a secreted protein that is subsequently processed into mature peptides of distinct biological activities. The C-terminal peptide is constitutively expressed in sweat and has antibacterial and antifungal activities. The N-terminal peptide, also known as diffusible survival evasion peptide, promotes neural cell survival under conditions of severe oxidative stress. A glycosylated form of the N-terminal peptide may be associated with cachexia (muscle wasting) in cancer patients. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014] |
| 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; |