| Variant ID | 29613 |
|---|---|
| Entrez Gene ID | 326 |
| Gene | AIRE (GeneCards) |
| Location | hg19 21:45711076-45711076
hg38 21:44291193-44291193 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000021.8:g.45711076 G>A (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 | 48129895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.4147 |
| CADD Raw score (version 1.3) | 0.591561 (Deleterious) |
| FATHMM raw prediction score | 0.08343 (Tolerated) |
| Deleterious probability by DeFine | 0.8542 (Deleterious) |
| Entrez Gene ID | 326 (NCBI Gene) |
|---|---|
| Official Gene Symbol | AIRE (GeneCards) |
| Number of variants in AIRE in this database | 1 (view all the variants) |
| Full name | autoimmune regulator |
| Band | 21q22.3 |
| Other IDs | Vega: OTTHUMG00000086921 OMIM: 607358 HGNC: HGNC:360 Ensembl: ENSG00000160224 |
| Other names | APS1, APSI, PGA1, AIRE1, APECED |
| Summary | This gene encodes a transcriptional regulator that forms nuclear bodies and interacts with the transcriptional coactivator CREB binding protein. The encoded protein plays an important role in immunity by regulating the expression of autoantigens and negative selection of autoreactive T-cells in the thymus. Mutations in this gene cause the rare autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED). [provided by RefSeq, Jun 2012] |
| Individual ID | 28714951.289 (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; |