| Variant ID | 29935 |
|---|---|
| Entrez Gene ID | 58495 |
| Gene | OVOL2 (GeneCards) |
| Location | hg19 20:18005484-18005484
hg38 20:18024840-18024840 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000020.10:g.18005484 C>A (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 | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.5118 |
| CADD Raw score (version 1.3) | 4.992032 (Deleterious) |
| FATHMM raw prediction score | 0.79934 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 0.999 (Deleterious) |
| MutatioinAssessor score | -0.4 (Tolerated) |
| PROVEAN score | -3.27 (Deleterious) |
| MetaSVM score | -1.019 (Tolerated) |
| MetaLR score | 0.015 (Tolerated) |
| MCAP score | 0.017 (Tolerated) |
| FitCons score | 0.745 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -2.69 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.365 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.988 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 12.307 |
| Deleterious probability by iFish2 | 0.08 (Neutral) |
| Deleterious probability by DeFine | 0.9197 (Deleterious) |
| Entrez Gene ID | 58495 (NCBI Gene) |
|---|---|
| Official Gene Symbol | OVOL2 (GeneCards) |
| Number of variants in OVOL2 in this database | 2 (view all the variants) |
| Full name | ovo like zinc finger 2 |
| Band | 20p11.23 |
| Other IDs | Vega: OTTHUMG00000031960 OMIM: 616441 HGNC: HGNC:15804 Ensembl: ENSG00000125850 |
| Other names | CHED, CHED1, CHED2, PPCD1, ZNF339, EUROIMAGE566589 |
| Summary | This gene encodes a member of the evolutionarily conserved ovo-like protein family. Mammalian members of this family contain a single zinc finger domain composed of a tetrad of C2H2 zinc fingers with variable N- and C-terminal extensions that contain intrinsically disordered domains. Members of this family are involved in epithelial development and differentiation. Knockout of this gene in mouse results in early embryonic lethality with phenotypes that include neurectoderm expansion, impaired vascularization, and heart anomalies. In humans, allelic variants of this gene have been associated with posterior polymorphous corneal dystrophy. [provided by RefSeq, Apr 2016] |
| Individual ID | 28867142.24 (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; |