| Variant ID | 29681 |
|---|---|
| Entrez Gene ID | 5582 |
| Gene | PRKCG (GeneCards) |
| Location | hg19 19:54395806-54395806
hg38 19:53892552-53892552 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000019.9:g.54395806 G>T (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 | -0.087 |
| CADD Raw score (version 1.3) | 3.943018 (Deleterious) |
| FATHMM raw prediction score | 0.95079 (Tolerated) |
| SIFT score | 0.06 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.75 (Tolerated) |
| PROVEAN score | -2.33 (Tolerated) |
| MetaSVM score | -0.758 (Tolerated) |
| MetaLR score | 0.203 (Tolerated) |
| MCAP score | 0.043 (Deleterious) |
| FitCons score | 0.706 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.2 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.106 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 9.912 |
| Deleterious probability by iFish2 | 0.5091 (Deleterious) |
| Deleterious probability by DeFine | 0.9018 (Deleterious) |
| Entrez Gene ID | 5582 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PRKCG (GeneCards) |
| Number of variants in PRKCG in this database | 1 (view all the variants) |
| Full name | protein kinase C gamma |
| Band | 19q13.42 |
| Other IDs | Vega: OTTHUMG00000064846 OMIM: 176980 HGNC: HGNC:9402 Ensembl: ENSG00000126583 |
| Other names | PKCC, PKCG, SCA14, PKC-gamma |
| Summary | Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play distinct roles in cells. The protein encoded by this gene is one of the PKC family members. This protein kinase is expressed solely in the brain and spinal cord and its localization is restricted to neurons. It has been demonstrated that several neuronal functions, including long term potentiation (LTP) and long term depression (LTD), specifically require this kinase. Knockout studies in mice also suggest that this kinase may be involved in neuropathic pain development. Defects in this protein have been associated with neurodegenerative disorder spinocerebellar ataxia-14 (SCA14). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015] |
| Individual ID | 28714951.357 (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; |