| Variant ID | 29980 |
|---|---|
| Entrez Gene ID | 157313 |
| Gene | CDCA2 (GeneCards) |
| Location | hg19 8:25364646-25364646
hg38 8:25507130-25507130 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000008.10:g.25364646 G>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 822 |
| Amino acid changes in protein | V > L |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NM_152562 |
| mRNA length | NA |
| Reference length | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -1.5354 |
| CADD Raw score (version 1.3) | -1.326473 (Deleterious) |
| FATHMM raw prediction score | 0.01084 (Tolerated) |
| SIFT score | 0.426 (Tolerated) |
| LRT score | 0 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 0 (Tolerated) |
| PROVEAN score | -0.28 (Tolerated) |
| MetaSVM score | -1.052 (Tolerated) |
| MetaLR score | 0.034 (Tolerated) |
| MCAP score | 0.004 (Tolerated) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -7.85 |
| PhyloP score based on multiple alignment of 100 vertebrates | -2.189 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 4.926 |
| Deleterious probability by iFish2 | 0.0016 (Neutral) |
| Deleterious probability by DeFine | 0.8085 (Deleterious) |
| Entrez Gene ID | 157313 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CDCA2 (GeneCards) |
| Number of variants in CDCA2 in this database | 3 (view all the variants) |
| Full name | cell division cycle associated 2 |
| Band | 8p21.2 |
| Other IDs | Vega: OTTHUMG00000099429 HGNC: HGNC:14623 Ensembl: ENSG00000184661 |
| Other names | PPP1R81, Repo-Man |
| Summary | This gene encodes a targeting subunit of the cell-cycle associated protein, protein phosphatase 1, with a role in targeting this protein to chromatin during anaphase. These two proteins comprise a phosphatase complex that is involved in nuclear envelope reformation and regulation of the DNA damage response. The encoded protein may also play a role in cancer progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] |
| Individual ID | 28503910.204 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Father |
| Phenotype | 2 |
| Number of affected children | 1 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |