| Variant ID | 29684 |
|---|---|
| Entrez Gene ID | 8493 |
| Gene | PPM1D (GeneCards) |
| Location | hg19 17:58740376-58740376
hg38 17:60663015-60663015 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000017.10:g.58740376 G>A (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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 4969938 |
| Variant occurences in COSMIC | 1(skin)|2(central_nervous_system) |
| EIGEN score | 1.1078 |
| CADD Raw score (version 1.3) | 12.172645 (Deleterious) |
| FATHMM raw prediction score | 0.99166 (Tolerated) |
| LRT score | 0.005 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.706 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.78 |
| PhyloP score based on multiple alignment of 100 vertebrates | 6.786 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 20.375 |
| Deleterious probability by DeFine | 0.9272 (Deleterious) |
| Entrez Gene ID | 8493 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PPM1D (GeneCards) |
| Number of variants in PPM1D in this database | 2 (view all the variants) |
| Full name | protein phosphatase, Mg2+/Mn2+ dependent 1D |
| Band | 17q23.2 |
| Other IDs | Vega: OTTHUMG00000180052 OMIM: 605100 HGNC: HGNC:9277 Ensembl: ENSG00000170836 |
| Other names | WIP1, IDDGIP, PP2C-DELTA |
| Summary | The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. The expression of this gene is induced in a p53-dependent manner in response to various environmental stresses. While being induced by tumor suppressor protein TP53/p53, this phosphatase negatively regulates the activity of p38 MAP kinase, MAPK/p38, through which it reduces the phosphorylation of p53, and in turn suppresses p53-mediated transcription and apoptosis. This phosphatase thus mediates a feedback regulation of p38-p53 signaling that contributes to growth inhibition and the suppression of stress induced apoptosis. This gene is located in a chromosomal region known to be amplified in breast cancer. The amplification of this gene has been detected in both breast cancer cell line and primary breast tumors, which suggests a role of this gene in cancer development. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.360 (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; |