| Variant ID | 10403 |
|---|---|
| Entrez Gene ID | 1804 |
| Gene | DPP6 (GeneCards) |
| Location | hg19 7:153683262-153683262
hg38 7:153986177-153986177 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.153683262 C>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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2327 |
| CADD Raw score (version 1.3) | 0.172934 (Deleterious) |
| FATHMM raw prediction score | 0.20578 (Tolerated) |
| Deleterious probability by DeFine | 0.5026 (Deleterious) |
| Entrez Gene ID | 1804 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DPP6 (GeneCards) |
| Number of variants in DPP6 in this database | 11 (view all the variants) |
| Full name | dipeptidyl peptidase like 6 |
| Band | 7q36.2 |
| Other IDs | Vega: OTTHUMG00000151511 OMIM: 126141 HGNC: HGNC:3010 Ensembl: ENSG00000130226 |
| Other names | VF2, DPL1, DPPX, MRD33 |
| Summary | This gene encodes a single-pass type II membrane protein that is a member of the peptidase S9B family of serine proteases. This protein has no detectable protease activity, most likely due to the absence of the conserved serine residue normally present in the catalytic domain of serine proteases. However, it does bind specific voltage-gated potassium channels and alters their expression and biophysical properties. Variations in this gene may be associated with susceptibility to amyotrophic lateral sclerosis and with idiopathic ventricular fibrillation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 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; |