| Variant ID | 1183 |
|---|---|
| Entrez Gene ID | 498 |
| Gene | ATP5A1 (GeneCards) |
| Location | hg19 18:43669564-43669564
hg38 18:46089598-46089598 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000018.9:g.43669564_43669564 del (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 | NM_004046.5 |
| mRNA length | 1927 |
| Reference length | 78077248 |
| Deleterious probability by DeFine | 0.9587 (Deleterious) |
|---|
| Entrez Gene ID | 498 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ATP5A1 (GeneCards) |
| Number of variants in ATP5F1A in this database | 3 (view all the variants) |
| Full name | ATP synthase F1 subunit alpha |
| Band | 18q21.1 |
| Other IDs | Vega: OTTHUMG00000132637 OMIM: 164360 HGNC: HGNC:823 Ensembl: ENSG00000152234 |
| Other names | OMR, ORM, ATPM, MOM2, ATP5A, hATP1, ATP5A1, MC5DN4, ATP5AL2, COXPD22, HEL-S-123m |
| Summary | This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, using an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the alpha subunit of the catalytic core. Alternatively spliced transcript variants encoding the different isoforms have been identified. Pseudogenes of this gene are located on chromosomes 9, 2, and 16. [provided by RefSeq, Mar 2012] |
| Individual ID | 28867142.28 (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; |