| Variant ID | 29723 |
|---|---|
| Entrez Gene ID | 1329 |
| Gene | COX5B (GeneCards) |
| Location | hg19 2:98263555-98263555
hg38 2:97647092-97647092 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000002.11:g.98263555 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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.4617 |
| CADD Raw score (version 1.3) | 0.678795 (Deleterious) |
| FATHMM raw prediction score | 0.9174 (Tolerated) |
| Deleterious probability by DeFine | 0.9022 (Deleterious) |
| Entrez Gene ID | 1329 (NCBI Gene) |
|---|---|
| Official Gene Symbol | COX5B (GeneCards) |
| Number of variants in COX5B in this database | 2 (view all the variants) |
| Full name | cytochrome c oxidase subunit 5B |
| Band | 2q11.2 |
| Other IDs | Vega: OTTHUMG00000130548 OMIM: 123866 HGNC: HGNC:2269 Ensembl: ENSG00000135940 |
| Other names | COXVB |
| Summary | Cytochrome C oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer and proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit Vb of the human mitochondrial respiratory chain enzyme. [provided by RefSeq, Jul 2008] |
| Individual ID | 28867142.24 (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; |