| Variant ID | 29300 |
|---|---|
| Entrez Gene ID | 5858 |
| Gene | PZP (GeneCards) |
| Location | hg19 12:9345317-9345317
hg38 12:9192721-9192721 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000012.11:g.9345317 T>C (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 | -1.4571 |
| CADD Raw score (version 1.3) | -1.728721 (Deleterious) |
| FATHMM raw prediction score | 0.00493 (Tolerated) |
| SIFT score | 0.837 (Tolerated) |
| LRT score | 0.001 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 0 (Tolerated) |
| PROVEAN score | -0.94 (Tolerated) |
| MetaSVM score | -1.037 (Tolerated) |
| MetaLR score | 0.03 (Tolerated) |
| MCAP score | 0.002 (Tolerated) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -1.6 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.649 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 3.181 |
| Deleterious probability by iFish2 | 0.0777 (Neutral) |
| Deleterious probability by DeFine | 0.4435 (Neutral) |
| Entrez Gene ID | 5858 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PZP (GeneCards) |
| Number of variants in PZP in this database | 3 (view all the variants) |
| Full name | PZP, alpha-2-macroglobulin like |
| Band | 12p13.31 |
| Other IDs | Vega: OTTHUMG00000154915 OMIM: 176420 HGNC: HGNC:9750 Ensembl: ENSG00000126838 |
| Other names | CPAMD6 |
| Summary | The protein encoded by this gene is highly expressed in late-pregnancy serum and is similar in structure to alpha-2-macroglobulin. The encoded protein, which acts as a homotetramer, inhibits the activity of all four classes of proteinases. This protein contains cleavage sites for several proteinases. Upon binding of a proteinase, the conformation of this protein changes to trap the proteinase, limiting its activity. This protein appears to be elevated in the sera of presymptomatic Alzheimer's disease patients. [provided by RefSeq, Dec 2016] |
| Individual ID | 28503910.177 (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; |