| Variant ID | 29389 |
|---|---|
| Entrez Gene ID | 23082 |
| Gene | PPRC1 (GeneCards) |
| Location | hg19 10:103908274-103908274
hg38 10:102148517-102148517 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000010.10:g.103908274 C>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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 2058925 |
| Variant occurences in COSMIC | 1(large_intestine) |
| EIGEN score | 0.504 |
| CADD Raw score (version 1.3) | 7.54299 (Deleterious) |
| FATHMM raw prediction score | 0.83915 (Tolerated) |
| SIFT score | 0.013 (Deleterious) |
| LRT score | 0.492 (Tolerated) |
| MutationTaster score | 0.759 (Deleterious) |
| MutatioinAssessor score | 2.32 (Deleterious) |
| PROVEAN score | -3.41 (Deleterious) |
| MetaSVM score | -0.639 (Tolerated) |
| MetaLR score | 0.213 (Tolerated) |
| MCAP score | 0.059 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.48 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.424 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 12.909 |
| Deleterious probability by iFish2 | 0.0069 (Neutral) |
| Deleterious probability by DeFine | 0.9438 (Deleterious) |
| Entrez Gene ID | 23082 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PPRC1 (GeneCards) |
| Number of variants in PPRC1 in this database | 1 (view all the variants) |
| Full name | peroxisome proliferator-activated receptor gamma, coactivator-related 1 |
| Band | 10q24.32 |
| Other IDs | Vega: OTTHUMG00000018948 OMIM: 617462 HGNC: HGNC:30025 Ensembl: ENSG00000148840 |
| Other names | PRC |
| Summary | The protein encoded by this gene is similar to PPAR-gamma coactivator 1 (PPARGC1/PGC-1), a protein that can activate mitochondrial biogenesis in part through a direct interaction with nuclear respiratory factor 1 (NRF1). This protein has been shown to interact with NRF1. It is thought to be a functional relative of PPAR-gamma coactivator 1 that activates mitochondrial biogenesis through NRF1 in response to proliferative signals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] |
| Individual ID | 28714951.65 (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; |