| Variant ID | 14914 |
|---|---|
| Entrez Gene ID | 5588 |
| Gene | PRKCQ (GeneCards) |
| Location | hg19 10:6516150-6516150
hg38 10:6474188-6474188 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.6516150 G>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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.598 |
| CADD Raw score (version 1.3) | 0.08079 (Deleterious) |
| FATHMM raw prediction score | 0.27178 (Tolerated) |
| Deleterious probability by DeFine | 0.563 (Deleterious) |
| Entrez Gene ID | 5588 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PRKCQ (GeneCards) |
| Number of variants in PRKCQ in this database | 2 (view all the variants) |
| Full name | protein kinase C theta |
| Band | 10p15.1 |
| Other IDs | Vega: OTTHUMG00000017623 OMIM: 600448 HGNC: HGNC:9410 Ensembl: ENSG00000065675 |
| Other names | PRKCT, nPKC-theta |
| Summary | Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the 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 family members 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 a distinct role. The protein encoded by this gene is one of the PKC family members. It is a calcium-independent and phospholipid-dependent protein kinase. This kinase is important for T-cell activation. It is required for the activation of the transcription factors NF-kappaB and AP-1, and may link the T cell receptor (TCR) signaling complex to the activation of the transcription factors. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |