| Variant ID | 29377 |
|---|---|
| Entrez Gene ID | 2309 |
| Gene | FOXO3 (GeneCards) |
| Location | hg19 6:108985226-108985226
hg38 6:108664023-108664023 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000006.11:g.108985226 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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs202151097 |
| Variant IDs in COSMIC (version 89) | 4586131 |
| Variant occurences in COSMIC | 2(bone) |
| EIGEN score | -0.2572 |
| CADD Raw score (version 1.3) | 1.55459 (Deleterious) |
| FATHMM raw prediction score | 0.95684 (Tolerated) |
| SIFT score | 0.065 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 0.928 (Deleterious) |
| MutatioinAssessor score | 1.845 (Tolerated) |
| PROVEAN score | -0.85 (Tolerated) |
| MetaSVM score | 0.161 (Deleterious) |
| MetaLR score | 0.679 (Deleterious) |
| MCAP score | 0.051 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.93 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.471 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.937 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.074 |
| Deleterious probability by iFish2 | 0.9437 (Deleterious) |
| Deleterious probability by DeFine | 0.9127 (Deleterious) |
| Entrez Gene ID | 2309 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FOXO3 (GeneCards) |
| Number of variants in FOXO3 in this database | 2 (view all the variants) |
| Full name | forkhead box O3 |
| Band | 6q21 |
| Other IDs | Vega: OTTHUMG00000015327 OMIM: 602681 HGNC: HGNC:3821 Ensembl: ENSG00000118689 |
| Other names | FOXO2, AF6q21, FKHRL1, FOXO3A, FKHRL1P2 |
| Summary | This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. This gene likely functions as a trigger for apoptosis through expression of genes necessary for cell death. Translocation of this gene with the MLL gene is associated with secondary acute leukemia. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.53 (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; |