| Variant ID | 29284 |
|---|---|
| Entrez Gene ID | 8471 |
| Gene | IRS4 (GeneCards) |
| Location | hg19 X:107977583-107977583
hg38 X:108734353-108734353 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000023.10:g.107977583 C>G (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 | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | -1.061782 (Deleterious) |
| FATHMM raw prediction score | 0.28759 (Tolerated) |
| Deleterious probability by DeFine | 0.8572 (Deleterious) |
| Entrez Gene ID | 8471 (NCBI Gene) |
|---|---|
| Official Gene Symbol | IRS4 (GeneCards) |
| Number of variants in IRS4 in this database | 1 (view all the variants) |
| Full name | insulin receptor substrate 4 |
| Band | Xq22.3 |
| Other IDs | Vega: OTTHUMG00000022181 OMIM: 300904 HGNC: HGNC:6128 Ensembl: ENSG00000133124 |
| Other names | IRS-4, PY160 |
| Summary | IRS4 encodes the insulin receptor substrate 4, a cytoplasmic protein that contains many potential tyrosine and serine/threonine phosphorylation sites. Tyrosine-phosphorylated IRS4 protein has been shown to associate with cytoplasmic signalling molecules that contain SH2 domains. The IRS4 protein is phosphorylated by the insulin receptor tyrosine kinase upon receptor stimulation.. [provided by RefSeq, Jul 2008] |
| Individual ID | 28503910.161 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| 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; |