| Variant ID | 29446 |
|---|---|
| Entrez Gene ID | 55471 |
| Gene | NDUFAF7 (GeneCards) |
| Location | hg19 2:37473275-37473275
hg38 2:37246132-37246132 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000002.11:g.37473275 A>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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.8024 |
| CADD Raw score (version 1.3) | 2.083384 (Deleterious) |
| FATHMM raw prediction score | 0.0863 (Tolerated) |
| SIFT score | 0.049 (Deleterious) |
| LRT score | 0.416 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 1.1 (Tolerated) |
| PROVEAN score | -0.68 (Tolerated) |
| MetaSVM score | -0.964 (Tolerated) |
| MetaLR score | 0.095 (Tolerated) |
| MCAP score | 0.016 (Tolerated) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -3.36 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.225 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 9.714 |
| Deleterious probability by iFish2 | 0.0324 (Neutral) |
| Deleterious probability by DeFine | 0.7528 (Deleterious) |
| Entrez Gene ID | 55471 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NDUFAF7 (GeneCards) |
| Number of variants in NDUFAF7 in this database | 1 (view all the variants) |
| Full name | NADH:ubiquinone oxidoreductase complex assembly factor 7 |
| Band | 2p22.2 |
| Other IDs | Vega: OTTHUMG00000128468 OMIM: 615898 HGNC: HGNC:28816 Ensembl: ENSG00000003509 |
| Other names | MidA, C2orf56, PRO1853 |
| Summary | This gene encodes an assembly factor protein which helps in the assembly and stabilization of Complex I, a large multi-subunit enzyme in the mitochondrial respiratory chain. Complex I is involved in several physiological activities in the cell, including metabolite transport and ATP synthesis. The encoded protein is a methyltransferase which methylates Arg85 of a subunit of Complex I in the early stages of its assembly. A pseudogene related to this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016] |
| Individual ID | 28714951.122 (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; |