| Variant ID | 29509 |
|---|---|
| Entrez Gene ID | 325 |
| Gene | APCS (GeneCards) |
| Location | hg19 1:159558174-159558174
hg38 1:159588384-159588384 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000001.10:g.159558174 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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0.00009684 |
|---|---|
| EIGEN score | 0.0461 |
| CADD Raw score (version 1.3) | 4.132608 (Deleterious) |
| FATHMM raw prediction score | 0.34171 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0.005 (Tolerated) |
| MutationTaster score | 0.742 (Deleterious) |
| MutatioinAssessor score | 3.485 (Deleterious) |
| PROVEAN score | -4.01 (Deleterious) |
| MetaSVM score | -0.463 (Tolerated) |
| MetaLR score | 0.328 (Tolerated) |
| MCAP score | 0.014 (Tolerated) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 1.14 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.183 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.022 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 5.891 |
| Deleterious probability by iFish2 | 0.9948 (Deleterious) |
| Deleterious probability by DeFine | 0.5062 (Deleterious) |
| Entrez Gene ID | 325 (NCBI Gene) |
|---|---|
| Official Gene Symbol | APCS (GeneCards) |
| Number of variants in APCS in this database | 2 (view all the variants) |
| Full name | amyloid P component, serum |
| Band | 1q23.2 |
| Other IDs | Vega: OTTHUMG00000022741 OMIM: 104770 HGNC: HGNC:584 Ensembl: ENSG00000132703 |
| Other names | SAP, PTX2, HEL-S-92n |
| Summary | The protein encoded by this gene is a glycoprotein, belonging to the pentraxin family of proteins, which has a characteristic pentameric organization. These family members have considerable sequence homology which is thought to be the result of gene duplication. The binding of the encoded protein to proteins in the pathological amyloid cross-beta fold suggests its possible role as a chaperone. This protein is also thought to control the degradation of chromatin. It has been demonstrated that this protein binds to apoptotic cells at an early stage, which raises the possibility that it is involved in dealing with apoptotic cells in vivo. [provided by RefSeq, Sep 2008] |
| Individual ID | 28714951.185 (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; |