| Variant ID | 7380 |
|---|---|
| Entrez Gene ID | 10891 |
| Gene | PPARGC1A (GeneCards) |
| Location | hg19 4:24221452-24221452
hg38 4:24219829-24219829 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000004.11:g.24221452 C>T (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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2635 |
| CADD Raw score (version 1.3) | 0.260931 (Deleterious) |
| FATHMM raw prediction score | 0.12224 (Tolerated) |
| Deleterious probability by DeFine | 0.6464 (Deleterious) |
| 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 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; |