| Variant ID | 29731 |
|---|---|
| Entrez Gene ID | 316 |
| Gene | AOX1 (GeneCards) |
| Location | hg19 2:201464413-201464413
hg38 2:200599690-200599690 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000002.11:g.201464413 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| 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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003229 |
|---|---|
| EIGEN score | 0.2079 |
| CADD Raw score (version 1.3) | 5.707738 (Deleterious) |
| FATHMM raw prediction score | 0.28888 (Tolerated) |
| SIFT score | 0.006 (Deleterious) |
| LRT score | 0.01 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 2.25 (Deleterious) |
| PROVEAN score | -3.86 (Deleterious) |
| MetaSVM score | -0.653 (Tolerated) |
| MetaLR score | 0.295 (Tolerated) |
| MCAP score | 0.02 (Tolerated) |
| FitCons score | 0.615 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.65 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.031 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.029 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.752 |
| Deleterious probability by iFish2 | 0.5919 (Deleterious) |
| Deleterious probability by DeFine | 0.8489 (Deleterious) |
| Entrez Gene ID | 316 (NCBI Gene) |
|---|---|
| Official Gene Symbol | AOX1 (GeneCards) |
| Number of variants in AOX1 in this database | 4 (view all the variants) |
| Full name | aldehyde oxidase 1 |
| Band | 2q33.1 |
| Other IDs | Vega: OTTHUMG00000154536 OMIM: 602841 HGNC: HGNC:553 Ensembl: ENSG00000138356 |
| Other names | AO, AOH1 |
| Summary | Aldehyde oxidase produces hydrogen peroxide and, under certain conditions, can catalyze the formation of superoxide. Aldehyde oxidase is a candidate gene for amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2008] |
| Individual ID | 28867142.27 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |