| Variant ID | 923 |
|---|---|
| Entrez Gene ID | 5294 |
| Gene | PIK3CG (GeneCards) |
| Location | hg19 7:106513193-106513193
hg38 7:106872748-106872748 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000007.13:g.106513193 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 699 |
| Amino acid changes in protein | L > L |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.7143 |
| CADD Raw score (version 1.3) | 0.709504 (Deleterious) |
| FATHMM raw prediction score | 0.95248 (Tolerated) |
| Deleterious probability by DeFine | 0.952 (Deleterious) |
| Entrez Gene ID | 5294 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PIK3CG (GeneCards) |
| Number of variants in PIK3CG in this database | 1 (view all the variants) |
| Full name | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma |
| Band | 7q22.3 |
| Other IDs | Vega: OTTHUMG00000157641 OMIM: 601232 HGNC: HGNC:8978 Ensembl: ENSG00000105851 |
| Other names | PI3K, PIK3, PI3CG, PI3Kgamma, p110gamma, p120-PI3K |
| Summary | Phosphoinositide 3-kinases (PI3Ks) phosphorylate inositol lipids and are involved in the immune response. The protein encoded by this gene is a class I catalytic subunit of PI3K. Like other class I catalytic subunits (p110-alpha p110-beta, and p110-delta), the encoded protein binds a p85 regulatory subunit to form PI3K. This gene is located in a commonly deleted segment of chromosome 7 previously identified in myeloid leukemias. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2015] |
| 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; |