| Variant ID | 29592 |
|---|---|
| Entrez Gene ID | 5591 |
| Gene | PRKDC (GeneCards) |
| Location | hg19 8:48827944-48827944
hg38 8:47915384-47915384 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000008.10:g.48827944 C>A (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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1703 |
| CADD Raw score (version 1.3) | 5.919798 (Deleterious) |
| FATHMM raw prediction score | 0.94385 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| PROVEAN score | -5.9 (Deleterious) |
| MetaSVM score | -0.435 (Tolerated) |
| MetaLR score | 0.347 (Tolerated) |
| MCAP score | 0.113 (Deleterious) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 1.94 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.627 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 10.083 |
| Deleterious probability by DeFine | 0.7322 (Deleterious) |
| Entrez Gene ID | 5591 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PRKDC (GeneCards) |
| Number of variants in PRKDC in this database | 2 (view all the variants) |
| Full name | protein kinase, DNA-activated, catalytic subunit |
| Band | 8q11.21 |
| Other IDs | Vega: OTTHUMG00000164239 OMIM: 600899 HGNC: HGNC:9413 Ensembl: ENSG00000253729 |
| Other names | HYRC, p350, DNAPK, DNPK1, HYRC1, IMD26, XRCC7, DNAPKc, DNA-PKC, DNA-PKcs |
| Summary | This gene encodes the catalytic subunit of the DNA-dependent protein kinase (DNA-PK). It functions with the Ku70/Ku80 heterodimer protein in DNA double strand break repair and recombination. The protein encoded is a member of the PI3/PI4-kinase family.[provided by RefSeq, Jul 2010] |
| Individual ID | 28714951.268 (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; |