| Variant ID | 29771 |
|---|---|
| Entrez Gene ID | 5019 |
| Gene | OXCT1 (GeneCards) |
| Location | hg19 5:41850175-41850175
hg38 5:41850073-41850073 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000005.9:g.41850175 T>C (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| 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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.9357 |
| CADD Raw score (version 1.3) | 5.604958 (Deleterious) |
| FATHMM raw prediction score | 0.99655 (Tolerated) |
| SIFT score | 0.003 (Deleterious) |
| LRT score | 0.001 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.81 (Deleterious) |
| PROVEAN score | -8 (Deleterious) |
| MetaSVM score | 0.803 (Deleterious) |
| MetaLR score | 0.771 (Deleterious) |
| MCAP score | 0.447 (Deleterious) |
| FitCons score | 0.719 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.12 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.718 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.093 |
| Deleterious probability by iFish2 | 0.9974 (Deleterious) |
| Deleterious probability by DeFine | 0.9491 (Deleterious) |
| Entrez Gene ID | 5019 (NCBI Gene) |
|---|---|
| Official Gene Symbol | OXCT1 (GeneCards) |
| Number of variants in OXCT1 in this database | 1 (view all the variants) |
| Full name | 3-oxoacid CoA-transferase 1 |
| Band | 5p13.1 |
| Other IDs | Vega: OTTHUMG00000094783 OMIM: 601424 HGNC: HGNC:8527 Ensembl: ENSG00000083720 |
| Other names | OXCT, SCOT |
| Summary | This gene encodes a member of the 3-oxoacid CoA-transferase gene family. The encoded protein is a homodimeric mitochondrial matrix enzyme that plays a central role in extrahepatic ketone body catabolism by catalyzing the reversible transfer of coenzyme A from succinyl-CoA to acetoacetate. Mutations in this gene are associated with succinyl CoA:3-oxoacid CoA transferase deficiency. [provided by RefSeq, Jul 2008] |
| Individual ID | 28867142.35 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |