| Variant ID | 29722 |
|---|---|
| Entrez Gene ID | 5496 |
| Gene | PPM1G (GeneCards) |
| Location | hg19 2:27604615-27604615
hg38 2:27381748-27381748 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000002.11:g.27604615 T>C (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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1852 |
| CADD Raw score (version 1.3) | 3.65324 (Deleterious) |
| FATHMM raw prediction score | 0.91564 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.36 (Deleterious) |
| PROVEAN score | -3.8 (Deleterious) |
| MetaSVM score | -1.178 (Tolerated) |
| MetaLR score | 0.049 (Tolerated) |
| MCAP score | 0.036 (Deleterious) |
| FitCons score | 0.722 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.61 |
| PhyloP score based on multiple alignment of 100 vertebrates | 8.017 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 6.973 |
| Deleterious probability by iFish2 | 0.9723 (Deleterious) |
| Deleterious probability by DeFine | 0.9658 (Deleterious) |
| Entrez Gene ID | 5496 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PPM1G (GeneCards) |
| Number of variants in PPM1G in this database | 1 (view all the variants) |
| Full name | protein phosphatase, Mg2+/Mn2+ dependent 1G |
| Band | 2p23.3 |
| Other IDs | Vega: OTTHUMG00000097788 OMIM: 605119 HGNC: HGNC:9278 Ensembl: ENSG00000115241 |
| Other names | PP2CG, PPP2CG, PP2CGAMMA |
| 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. This phosphatase is found to be responsible for the dephosphorylation of Pre-mRNA splicing factors, which is important for the formation of functional spliceosome. Studies of a similar gene in mice suggested a role of this phosphatase in regulating cell cycle progression. [provided by RefSeq, Apr 2010] |
| Individual ID | 28867142.23 (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; |