| Variant ID | 4275 |
|---|---|
| Entrez Gene ID | 57628 |
| Gene | DPP10 (GeneCards) |
| Location | hg19 2:117724552-117724552
hg38 2:116966976-116966976 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.117724552 G>A (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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1494 |
| CADD Raw score (version 1.3) | -0.009737 (Deleterious) |
| FATHMM raw prediction score | 0.08 (Tolerated) |
| Deleterious probability by DeFine | 0.5936 (Deleterious) |
| Entrez Gene ID | 57628 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DPP10 (GeneCards) |
| Number of variants in DPP10 in this database | 45 (view all the variants) |
| Full name | dipeptidyl peptidase like 10 |
| Band | 2q14.1 |
| Other IDs | Vega: OTTHUMG00000153294 OMIM: 608209 HGNC: HGNC:20823 Ensembl: ENSG00000175497 |
| Other names | DPL2, DPPY, DPRP3, DPRP-3 |
| Summary | This gene encodes a single-pass type II membrane protein that is a member of the S9B family in clan SC of the 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. Mutations in this gene have been associated with asthma. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.16 (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; |