| Variant ID | 29302 |
|---|---|
| Entrez Gene ID | 9235 |
| Gene | IL32 (GeneCards) |
| Location | hg19 16:3117636-3117636
hg38 16:3067635-3067635 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000016.9:g.3117636 C>T (Genome Assembly: GRCh37) |
| Exon or Intron | Intron |
|---|---|
| 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 | 0.0697 |
| CADD Raw score (version 1.3) | 0.241013 (Deleterious) |
| FATHMM raw prediction score | 0.16668 (Tolerated) |
| Deleterious probability by DeFine | 0.4765 (Neutral) |
| Entrez Gene ID | 9235 (NCBI Gene) |
|---|---|
| Official Gene Symbol | IL32 (GeneCards) |
| Number of variants in IL32 in this database | 1 (view all the variants) |
| Full name | interleukin 32 |
| Band | 16p13.3 |
| Other IDs | Vega: OTTHUMG00000167498 OMIM: 606001 HGNC: HGNC:16830 Ensembl: ENSG00000008517 |
| Other names | NK4, TAIF, TAIFa, TAIFb, TAIFc, TAIFd, IL-32beta, IL-32alpha, IL-32delta, IL-32gamma |
| Summary | This gene encodes a member of the cytokine family. The protein contains a tyrosine sulfation site, 3 potential N-myristoylation sites, multiple putative phosphorylation sites, and an RGD cell-attachment sequence. Expression of this protein is increased after the activation of T-cells by mitogens or the activation of NK cells by IL-2. This protein induces the production of TNFalpha from macrophage cells. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] |
| Individual ID | 28503910.179 (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; |