| Variant ID | 8037 |
|---|---|
| Entrez Gene ID | 5295 |
| Gene | PIK3R1 (GeneCards) |
| Location | hg19 5:68043535-68043535
hg38 5:68747708-68747708 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.68043535 T>A (Genome Assembly: GRCh37) |
| 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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.4303 |
| CADD Raw score (version 1.3) | 3.146338 (Deleterious) |
| FATHMM raw prediction score | 0.97058 (Tolerated) |
| Deleterious probability by DeFine | 0.8735 (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 | 29217584.10 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |