| Variant ID | 29680 |
|---|---|
| Entrez Gene ID | 9093 |
| Gene | DNAJA3 (GeneCards) |
| Location | hg19 16:4493080-4493080
hg38 16:4443079-4443079 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000016.9:g.4493080 C>G (Genome Assembly: hg19) |
| 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 | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.4107 |
| CADD Raw score (version 1.3) | 1.585795 (Deleterious) |
| FATHMM raw prediction score | 0.95443 (Tolerated) |
| Deleterious probability by DeFine | 0.8936 (Deleterious) |
| Entrez Gene ID | 9093 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DNAJA3 (GeneCards) |
| Number of variants in DNAJA3 in this database | 1 (view all the variants) |
| Full name | DnaJ heat shock protein family (Hsp40) member A3 |
| Band | 16p13.3 |
| Other IDs | Vega: OTTHUMG00000129470 OMIM: 608382 HGNC: HGNC:11808 Ensembl: ENSG00000103423 |
| Other names | TID1, HCA57, hTID-1 |
| Summary | This gene encodes a member of the DNAJ/Hsp40 protein family. DNAJ/Hsp40 proteins stimulate the ATPase activity of Hsp70 chaperones and play critical roles in protein folding, degradation, and multimeric complex assembly. The encoded protein is localized to mitochondria and mediates several cellular processes including proliferation, survival and apoptotic signal transduction. The encoded protein also plays a critical role in tumor suppression through interactions with oncogenic proteins including ErbB2 and the p53 tumor suppressor protein. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011] |
| Individual ID | 28714951.356 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |