| Variant ID | 29749 |
|---|---|
| Entrez Gene ID | 1962 |
| Gene | EHHADH (GeneCards) |
| Location | hg19 3:184910031-184910031
hg38 3:185192243-185192243 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000003.11:g.184910031 G>A (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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.4401 |
| CADD Raw score (version 1.3) | 0.285934 (Deleterious) |
| FATHMM raw prediction score | 0.75105 (Tolerated) |
| SIFT score | 0.11 (Tolerated) |
| LRT score | 0.358 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 1.79 (Tolerated) |
| PROVEAN score | -0.42 (Tolerated) |
| MetaSVM score | -0.873 (Tolerated) |
| MetaLR score | 0.194 (Tolerated) |
| MCAP score | 0.028 (Deleterious) |
| FitCons score | 0.638 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.03 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.905 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.371 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.179 |
| Deleterious probability by iFish2 | 0.0727 (Neutral) |
| Deleterious probability by DeFine | 0.8776 (Deleterious) |
| Entrez Gene ID | 1962 (NCBI Gene) |
|---|---|
| Official Gene Symbol | EHHADH (GeneCards) |
| Number of variants in EHHADH in this database | 1 (view all the variants) |
| Full name | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase |
| Band | 3q27.2 |
| Other IDs | Vega: OTTHUMG00000156698 OMIM: 607037 HGNC: HGNC:3247 Ensembl: ENSG00000113790 |
| Other names | LBP, ECHD, LBFP, PBFE, FRTS3, L-PBE |
| Summary | The protein encoded by this gene is a bifunctional enzyme and is one of the four enzymes of the peroxisomal beta-oxidation pathway. The N-terminal region of the encoded protein contains enoyl-CoA hydratase activity while the C-terminal region contains 3-hydroxyacyl-CoA dehydrogenase activity. Defects in this gene are a cause of peroxisomal disorders such as Zellweger syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] |
| Individual ID | 28867142.30 (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; |