| Variant ID | 29462 |
|---|---|
| Entrez Gene ID | 545 |
| Gene | ATR (GeneCards) |
| Location | hg19 3:142185303-142185303
hg38 3:142466461-142466461 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000003.11:g.142185303 T>C (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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1572 |
| CADD Raw score (version 1.3) | 1.568022 (Deleterious) |
| FATHMM raw prediction score | 0.95575 (Tolerated) |
| SIFT score | 0.249 (Tolerated) |
| LRT score | 0 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.135 (Deleterious) |
| PROVEAN score | -1.36 (Tolerated) |
| MetaSVM score | -0.975 (Tolerated) |
| MetaLR score | 0.011 (Tolerated) |
| MCAP score | 0.013 (Tolerated) |
| FitCons score | 0.706 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.14 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.211 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 7.124 |
| Deleterious probability by iFish2 | 0.1034 (Neutral) |
| Deleterious probability by DeFine | 0.919 (Deleterious) |
| Entrez Gene ID | 545 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ATR (GeneCards) |
| Number of variants in ATR in this database | 1 (view all the variants) |
| Full name | ATR serine/threonine kinase |
| Band | 3q23 |
| Other IDs | Vega: OTTHUMG00000159234 OMIM: 601215 HGNC: HGNC:882 Ensembl: ENSG00000175054 |
| Other names | FRP1, MEC1, SCKL, FCTCS, SCKL1 |
| Summary | The protein encoded by this gene is a serine/threonine kinase and DNA damage sensor, activating cell cycle checkpoint signaling upon DNA stress. The encoded protein can phosphorylate and activate several proteins involved in the inhibition of DNA replication and mitosis, and can promote DNA repair, recombination, and apoptosis. This protein is also important for fragile site stability and centrosome duplication. Defects in this gene are a cause of Seckel syndrome 1. [provided by RefSeq, Aug 2017] |
| Individual ID | 28714951.138 (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; |