| Variant ID | 29174 |
|---|---|
| Entrez Gene ID | 3681 |
| Gene | ITGAD (GeneCards) |
| Location | hg19 16:31424461-31424461
hg38 16:31413140-31413140 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000016.9:g.31424461 G>A (Genome Assembly: GRCh37) |
| 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 | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.132 |
| CADD Raw score (version 1.3) | 0.000752 (Deleterious) |
| FATHMM raw prediction score | 0.97542 (Tolerated) |
| Deleterious probability by DeFine | 0.9425 (Deleterious) |
| Entrez Gene ID | 3681 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ITGAD (GeneCards) |
| Number of variants in ITGAD in this database | 3 (view all the variants) |
| Full name | integrin subunit alpha D |
| Band | 16p11.2 |
| Other IDs | Vega: OTTHUMG00000176614 OMIM: 602453 HGNC: HGNC:6146 Ensembl: ENSG00000156886 |
| Other names | ADB2, CD11D |
| Summary | This gene belongs to the beta-2 integrin family of membrane glycoproteins, which are are composed of non-covalently linked alpha and beta subunits to form a heterodimer. It encodes the alpha subunit of the cell surface heterodimers and is involved in the activation and adhesion functions of leukocytes. The gene is located about 11kb downstream of the integrin subunit alpha X gene, another member of the integrin family. It is expressed in the tissue and circulating myeloid leukocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] |
| Individual ID | 28503910.51 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Normal |
| Phenotype | 2 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |