| Variant ID | 29260 |
|---|---|
| Entrez Gene ID | 51434 |
| Gene | ANAPC7 (GeneCards) |
| Location | hg19 12:110820727-110820727
hg38 12:110382922-110382922 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000012.11:g.110820727 G>A (Genome Assembly: GRCh37) |
| 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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.4301 |
| CADD Raw score (version 1.3) | 5.745327 (Deleterious) |
| FATHMM raw prediction score | 0.98966 (Tolerated) |
| SIFT score | 0.01 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 0.345 (Tolerated) |
| PROVEAN score | -3.88 (Deleterious) |
| MetaSVM score | -0.516 (Tolerated) |
| MetaLR score | 0.249 (Tolerated) |
| MCAP score | 0.032 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.98 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.679 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.187 |
| Deleterious probability by iFish2 | 0.3236 (Neutral) |
| Deleterious probability by DeFine | 0.9287 (Deleterious) |
| Entrez Gene ID | 51434 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ANAPC7 (GeneCards) |
| Number of variants in ANAPC7 in this database | 1 (view all the variants) |
| Full name | anaphase promoting complex subunit 7 |
| Band | 12q24.11 |
| Other IDs | Vega: OTTHUMG00000157009 OMIM: 606949 HGNC: HGNC:17380 Ensembl: ENSG00000196510 |
| Other names | APC7 |
| Summary | This gene encodes a tetratricopeptide repeat containing component of the anaphase promoting complex/cyclosome (APC/C), a large E3 ubiquitin ligase that controls cell cycle progression by targeting a number of cell cycle regulators such as B-type cyclins for 26S proteasome-mediated degradation through ubiquitination. The encoded protein is required for proper protein ubiquitination function of APC/C and for the interaction of APC/C with certain transcription coactivators. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008] |
| Individual ID | 28503910.137 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Normal |
| Phenotype | 2 |
| 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; |