| Variant ID | 29801 |
|---|---|
| Entrez Gene ID | 5137 |
| Gene | PDE1C (GeneCards) |
| Location | hg19 7:31855578-31855578
hg38 7:31815964-31815964 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000007.13:g.31855578 G>T (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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -1.0425 |
| CADD Raw score (version 1.3) | 1.980173 (Deleterious) |
| FATHMM raw prediction score | 0.05233 (Tolerated) |
| SIFT score | 0.034 (Deleterious) |
| LRT score | 0.584 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 0.345 (Tolerated) |
| PROVEAN score | -0.02 (Tolerated) |
| MetaSVM score | -0.956 (Tolerated) |
| MetaLR score | 0.182 (Tolerated) |
| MCAP score | 0.05 (Deleterious) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 1.7 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.118 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.001 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 8.441 |
| Deleterious probability by iFish2 | 0.1524 (Neutral) |
| Deleterious probability by DeFine | 0.7845 (Deleterious) |
| Entrez Gene ID | 5137 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PDE1C (GeneCards) |
| Number of variants in PDE1C in this database | 11 (view all the variants) |
| Full name | phosphodiesterase 1C |
| Band | 7p14.3 |
| Other IDs | Vega: OTTHUMG00000023836 OMIM: 602987 HGNC: HGNC:8776 Ensembl: ENSG00000154678 |
| Other names | Hcam3, hCam-3, cam-PDE1C |
| Summary | This gene encodes an enzyme that belongs to the 3'5'-cyclic nucleotide phosphodiesterase family. Members of this family catalyze hydrolysis of the cyclic nucleotides, cyclic adenosine monophosphate and cyclic guanosine monophosphate, to the corresponding nucleoside 5'-monophosphates. The enzyme encoded by this gene regulates proliferation and migration of vascular smooth muscle cells, and neointimal hyperplasia. This enzyme also plays a role in pathological vascular remodeling by regulating the stability of growth factor receptors, such as PDGF-receptor-beta. [provided by RefSeq, Jul 2016] |
| Individual ID | 28867142.26 (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; |