| Variant ID | 29622 |
|---|---|
| Entrez Gene ID | 5091 |
| Gene | PC (GeneCards) |
| Location | hg19 11:66617104-66617104
hg38 11:66849633-66849633 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000011.9:g.66617104 G>C (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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.8182 |
| CADD Raw score (version 1.3) | 4.695423 (Deleterious) |
| FATHMM raw prediction score | 0.9647 (Tolerated) |
| SIFT score | 0.003 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.03 (Deleterious) |
| PROVEAN score | -6.94 (Deleterious) |
| MetaSVM score | 1.074 (Deleterious) |
| MetaLR score | 0.94 (Deleterious) |
| MCAP score | 0.393 (Deleterious) |
| FitCons score | 0.66 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.59 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.163 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.268 |
| Deleterious probability by iFish2 | 0.8845 (Deleterious) |
| Deleterious probability by DeFine | 0.9751 (Deleterious) |
| Entrez Gene ID | 5091 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PC (GeneCards) |
| Number of variants in PC in this database | 8 (view all the variants) |
| Full name | pyruvate carboxylase |
| Band | 11q13.2 |
| Other IDs | Vega: OTTHUMG00000167099 OMIM: 608786 HGNC: HGNC:8636 Ensembl: ENSG00000173599 |
| Other names | PCB |
| Summary | This gene encodes pyruvate carboxylase, which requires biotin and ATP to catalyse the carboxylation of pyruvate to oxaloacetate. The active enzyme is a homotetramer arranged in a tetrahedron which is located exclusively in the mitochondrial matrix. Pyruvate carboxylase is involved in gluconeogenesis, lipogenesis, insulin secretion and synthesis of the neurotransmitter glutamate. Mutations in this gene have been associated with pyruvate carboxylase deficiency. Alternatively spliced transcript variants with different 5' UTRs, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.298 (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; |