| Variant ID | 29552 |
|---|---|
| Entrez Gene ID | 57194 |
| Gene | ATP10A (GeneCards) |
| Location | hg19 15:25958938-25958938
hg38 15:25713791-25713791 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000015.9:g.25958938 C>T (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 | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.4782 |
| CADD Raw score (version 1.3) | 5.287546 (Deleterious) |
| FATHMM raw prediction score | 0.97117 (Tolerated) |
| SIFT score | 0.023 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.17 (Tolerated) |
| PROVEAN score | -4.13 (Deleterious) |
| MetaSVM score | 0.125 (Deleterious) |
| MetaLR score | 0.549 (Deleterious) |
| MCAP score | 0.095 (Deleterious) |
| FitCons score | 0.615 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.49 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.648 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 17.538 |
| Deleterious probability by iFish2 | 0.9684 (Deleterious) |
| Deleterious probability by DeFine | 0.9524 (Deleterious) |
| Entrez Gene ID | 57194 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ATP10A (GeneCards) |
| Number of variants in ATP10A in this database | 4 (view all the variants) |
| Full name | ATPase phospholipid transporting 10A (putative) |
| Band | 15q12 |
| Other IDs | Vega: OTTHUMG00000171703 OMIM: 605855 HGNC: HGNC:13542 Ensembl: ENSG00000206190 |
| Other names | ATPVA, ATPVC, ATP10C |
| Summary | The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. This gene is maternally expressed. It maps within the most common interval of deletion responsible for Angelman syndrome, also known as 'happy puppet syndrome'. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.228 (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; |