| Variant ID | 21974 |
|---|---|
| Entrez Gene ID | 5297 |
| Gene | PI4KA (GeneCards) |
| Location | hg19 22:21174417-21174417
hg38 22:20820129-20820129 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000022.10:g.21174417 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 | 51304566 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0395 |
| CADD Raw score (version 1.3) | 0.51574 (Deleterious) |
| FATHMM raw prediction score | 0.16038 (Tolerated) |
| Deleterious probability by DeFine | 0.3872 (Neutral) |
| Entrez Gene ID | 5297 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PI4KA (GeneCards) |
| Number of variants in PI4KA in this database | 5 (view all the variants) |
| Full name | phosphatidylinositol 4-kinase alpha |
| Band | 22q11.21 |
| Other IDs | Vega: OTTHUMG00000167440 OMIM: 600286 HGNC: HGNC:8983 Ensembl: ENSG00000241973 |
| Other names | PIK4CA, PMGYCHA, pi4K230, PI4K-ALPHA |
| Summary | This gene encodes a phosphatidylinositol (PI) 4-kinase which catalyzes the first committed step in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. The mammalian PI 4-kinases have been classified into two types, II and III, based on their molecular mass, and modulation by detergent and adenosine. The protein encoded by this gene is a type III enzyme that is not inhibited by adenosine. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2018] |
| Individual ID | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |