| Variant ID | 998 |
|---|---|
| Entrez Gene ID | 5295 |
| Gene | PIK3R1 (GeneCards) |
| Location | hg19 5:67591047-67591047
hg38 5:68295219-68295219 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000005.9:g.67591047 A>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 547 |
| Amino acid changes in protein | E > V |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0657 |
| CADD Raw score (version 1.3) | 3.09884 (Deleterious) |
| FATHMM raw prediction score | 0.97563 (Tolerated) |
| SIFT score | 0.076 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 0.49 (Tolerated) |
| PROVEAN score | -2.65 (Deleterious) |
| MetaSVM score | -1.08 (Tolerated) |
| MetaLR score | 0.074 (Tolerated) |
| MCAP score | 0.017 (Tolerated) |
| FitCons score | 0.719 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.02 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.421 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.204 |
| Deleterious probability by iFish2 | 0.6649 (Deleterious) |
| Deleterious probability by DeFine | 0.9196 (Deleterious) |
| Entrez Gene ID | 5295 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PIK3R1 (GeneCards) |
| Number of variants in PIK3R1 in this database | 4 (view all the variants) |
| Full name | phosphoinositide-3-kinase regulatory subunit 1 |
| Band | 5q13.1 |
| Other IDs | Vega: OTTHUMG00000131251 OMIM: 171833 HGNC: HGNC:8979 Ensembl: ENSG00000145675 |
| Other names | p85, AGM7, GRB1, IMD36, p85-ALPHA |
| Summary | Phosphatidylinositol 3-kinase phosphorylates the inositol ring of phosphatidylinositol at the 3-prime position. The enzyme comprises a 110 kD catalytic subunit and a regulatory subunit of either 85, 55, or 50 kD. This gene encodes the 85 kD regulatory subunit. Phosphatidylinositol 3-kinase plays an important role in the metabolic actions of insulin, and a mutation in this gene has been associated with insulin resistance. Alternative splicing of this gene results in four transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011] |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |