| Variant ID | 17955 |
|---|---|
| Entrez Gene ID | 5611 |
| Gene | DNAJC3 (GeneCards) |
| Location | hg19 13:96414587-96414587
hg38 13:95762333-95762333 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000013.10:g.96414587 A>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 | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3397 |
| CADD Raw score (version 1.3) | 0.002301 (Deleterious) |
| FATHMM raw prediction score | 0.06034 (Tolerated) |
| Deleterious probability by DeFine | 0.3512 (Neutral) |
| Entrez Gene ID | 5611 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DNAJC3 (GeneCards) |
| Number of variants in DNAJC3 in this database | 1 (view all the variants) |
| Full name | DnaJ heat shock protein family (Hsp40) member C3 |
| Band | 13q32.1 |
| Other IDs | Vega: OTTHUMG00000017227 OMIM: 601184 HGNC: HGNC:9439 Ensembl: ENSG00000102580 |
| Other names | P58, HP58, ACPHD, ERdj6, PRKRI, P58IPK |
| Summary | This gene encodes a protein with multiple tetratricopeptide repeat (TPR) motifs as well as the highly conserved J domain found in DNAJ chaperone family members. It is a member of the tetratricopeptide repeat family of proteins and acts as an inhibitor of the interferon-induced, dsRNA-activated protein kinase (PKR). [provided by RefSeq, Jul 2010] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |