| Variant ID | 29650 |
|---|---|
| Entrez Gene ID | 5296 |
| Gene | PIK3R2 (GeneCards) |
| Location | hg19 19:18273859-18273859
hg38 19:18163049-18163049 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000019.9:g.18273859 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 | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.4812 |
| CADD Raw score (version 1.3) | 5.300968 (Deleterious) |
| FATHMM raw prediction score | 0.98592 (Tolerated) |
| SIFT score | 0.018 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.595 (Tolerated) |
| PROVEAN score | -0.97 (Tolerated) |
| MetaSVM score | -0.345 (Tolerated) |
| MetaLR score | 0.324 (Tolerated) |
| MCAP score | 0.058 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.69 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.831 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.323 |
| Deleterious probability by iFish2 | 0.9234 (Deleterious) |
| Deleterious probability by DeFine | 0.9289 (Deleterious) |
| Entrez Gene ID | 5296 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PIK3R2 (GeneCards) |
| Number of variants in PIK3R2 in this database | 1 (view all the variants) |
| Full name | phosphoinositide-3-kinase regulatory subunit 2 |
| Band | 19p13.11 |
| Other IDs | Vega: OTTHUMG00000183383 OMIM: 603157 HGNC: HGNC:8980 Ensembl: ENSG00000105647 |
| Other names | p85, MPPH, P85B, MPPH1, p85-BETA |
| Summary | Phosphatidylinositol 3-kinase (PI3K) is a lipid kinase that phosphorylates phosphatidylinositol and similar compounds, creating second messengers important in growth signaling pathways. PI3K functions as a heterodimer of a regulatory and a catalytic subunit. The protein encoded by this gene is a regulatory component of PI3K. Two transcript variants, one protein coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2012] |
| Individual ID | 28714951.326 (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; |