Overview

Variant ID 6046
Entrez Gene ID 10891
Gene PPARGC1A (GeneCards)
Location hg19 4:24403865-24403865
hg38 4:24402242-24402242
Disease Asymptomatic
Method HiSeq X Ten
Mutation(HGVS format) NC_000004.11:g.24403865 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 191154276

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.1472
CADD Raw score (version 1.3) -0.072057 (Deleterious)
FATHMM raw prediction score 0.12448 (Tolerated)
Deleterious probability by DeFine 0.484 (Neutral)
Entrez Gene ID 10891 (NCBI Gene)
Official Gene Symbol PPARGC1A (GeneCards)
Number of variants in PPARGC1A in this database 8 (view all the variants)
Full name PPARG coactivator 1 alpha
Band 4p15.2
Other IDs Vega: OTTHUMG00000097747
OMIM: 604517
HGNC: HGNC:9237
Ensembl: ENSG00000109819
Other names LEM6, PGC1, PGC1A, PGC-1v, PPARGC1, PGC-1alpha, PGC-1(alpha)
Summary The protein encoded by this gene is a transcriptional coactivator that regulates the genes involved in energy metabolism. This protein interacts with PPARgamma, which permits the interaction of this protein with multiple transcription factors. This protein can interact with, and regulate the activities of, cAMP response element binding protein (CREB) and nuclear respiratory factors (NRFs). It provides a direct link between external physiological stimuli and the regulation of mitochondrial biogenesis, and is a major factor that regulates muscle fiber type determination. This protein may be also involved in controlling blood pressure, regulating cellular cholesterol homoeostasis, and the development of obesity. [provided by RefSeq, Jul 2008]

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;