| Variant ID | 29138 |
|---|---|
| Entrez Gene ID | 5494 |
| Gene | PPM1A (GeneCards) |
| Location | hg19 14:60712536-60712536
hg38 14:60245818-60245818 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000014.8:g.60712536 G>T (Genome Assembly: GRCh37) |
| Exon or Intron | 5UTR |
|---|---|
| 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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1713 |
| CADD Raw score (version 1.3) | 0.22315 (Deleterious) |
| FATHMM raw prediction score | 0.18187 (Tolerated) |
| Deleterious probability by DeFine | 0.5162 (Deleterious) |
| Entrez Gene ID | 5494 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PPM1A (GeneCards) |
| Number of variants in PPM1A in this database | 1 (view all the variants) |
| Full name | protein phosphatase, Mg2+/Mn2+ dependent 1A |
| Band | 14q23.1 |
| Other IDs | Vega: OTTHUMG00000140333 OMIM: 606108 HGNC: HGNC:9275 Ensembl: ENSG00000100614 |
| Other names | PP2CA, PP2Calpha, PP2C-ALPHA |
| 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 dephosphorylates, and negatively regulates the activities of, MAP kinases and MAP kinase kinases. It has been shown to inhibit the activation of p38 and JNK kinase cascades induced by environmental stresses. This phosphatase can also dephosphorylate cyclin-dependent kinases, and thus may be involved in cell cycle control. Overexpression of this phosphatase is reported to activate the expression of the tumor suppressor gene TP53/p53, which leads to G2/M cell cycle arrest and apoptosis. Three alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] |
| Individual ID | 28503910.15 (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; |