| Variant ID | 29466 |
|---|---|
| Entrez Gene ID | 10845 |
| Gene | CLPX (GeneCards) |
| Location | hg19 15:65471361-65471361
hg38 15:65179023-65179023 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000015.9:g.65471361 T>G (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 | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1781 |
| CADD Raw score (version 1.3) | 2.103827 (Deleterious) |
| FATHMM raw prediction score | 0.819 (Tolerated) |
| SIFT score | 0.415 (Tolerated) |
| LRT score | 0.003 (Tolerated) |
| MutationTaster score | 0.991 (Deleterious) |
| MutatioinAssessor score | 1.5 (Tolerated) |
| PROVEAN score | 0.69 (Tolerated) |
| MetaSVM score | -1.082 (Tolerated) |
| MetaLR score | 0.034 (Tolerated) |
| MCAP score | 0.003 (Tolerated) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.97 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.564 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.999 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.823 |
| Deleterious probability by iFish2 | 0.8012 (Deleterious) |
| Deleterious probability by DeFine | 0.8527 (Deleterious) |
| Entrez Gene ID | 10845 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CLPX (GeneCards) |
| Number of variants in CLPX in this database | 1 (view all the variants) |
| Full name | caseinolytic mitochondrial matrix peptidase chaperone subunit |
| Band | 15q22.31 |
| Other IDs | Vega: OTTHUMG00000133139 OMIM: 615611 HGNC: HGNC:2088 Ensembl: ENSG00000166855 |
| Other names | EPP2 |
| Summary | The protein encoded by this gene is part of a protease found in mitochondria. This protease is ATP-dependent and targets specific proteins for degradation. The protease consists of two heptameric rings of the CLPP catalytic subunit sandwiched between two hexameric rings of the chaperone subunit encoded by this gene. Targeted proteins are unwound by this protein and then passed on to the CLPP subunit for degradation. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Nov 2015] |
| Individual ID | 28714951.142 (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; |