Overview

Variant ID 18028
Entrez Gene ID 5583
Gene PRKCH (GeneCards)
Location hg19 14:61915463-61915463
hg38 14:61448745-61448745
Disease Asymptomatic
Method HiSeq X Ten
Mutation(HGVS format) NC_000014.8:g.61915463 G>A (Genome Assembly: GRCh37)

Other information

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 107349540

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score 0.3709
CADD Raw score (version 1.3) 0.328715 (Deleterious)
FATHMM raw prediction score 0.25612 (Tolerated)
Deleterious probability by DeFine 0.5675 (Deleterious)
Entrez Gene ID 5583 (NCBI Gene)
Official Gene Symbol PRKCH (GeneCards)
Number of variants in PRKCH in this database 2 (view all the variants)
Full name protein kinase C eta
Band 14q23.1
Other IDs Vega: OTTHUMG00000152341
OMIM: 605437
HGNC: HGNC:9403
Ensembl: ENSG00000027075
Other names PKCL, PKC-L, PRKCL, nPKC-eta
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 in cells. The protein encoded by this gene is one of the PKC family members. It is a calcium-independent and phospholipids-dependent protein kinase. It is predominantly expressed in epithelial tissues and has been shown to reside specifically in the cell nucleus. This protein kinase can regulate keratinocyte differentiation by activating the MAP kinase MAPK13 (p38delta)-activated protein kinase cascade that targets CCAAT/enhancer-binding protein alpha (CEBPA). It is also found to mediate the transcription activation of the transglutaminase 1 (TGM1) gene. Mutations in this gene are associated with susceptibility to cerebral infarction. [provided by RefSeq, Sep 2015]

Individual #1

Individual ID 29217584.03 (view all the variants in this individual)
Pubmed ID 29217584
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID

Publication #1: 29217584

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;