| Variant ID | 54 |
|---|---|
| Entrez Gene ID | 6774 |
| Gene | STAT3 (GeneCards) |
| Location | hg19 17:40478190-40478190
hg38 17:42326172-42326172 |
| Disease | Autosomal dominant Hyper IgE syndrome (view all the variants in this disease) |
| Method | Taqman RTPCR |
| Mutation(HGVS format) | NC_000017.10:g.40478190 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 437 |
| Amino acid changes in protein | H > Y |
| Position in cDNA | 1309 |
| Changes in cDNA | C > T |
| mRNA accession | NM_139276.2 |
| mRNA length | 2313 |
| Reference length | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1728 |
| CADD Raw score (version 1.3) | 4.610575 (Deleterious) |
| FATHMM raw prediction score | 0.96578 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.255 (Deleterious) |
| PROVEAN score | -5.32 (Deleterious) |
| MetaSVM score | -0.128 (Tolerated) |
| MetaLR score | 0.603 (Deleterious) |
| MCAP score | 0.191 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.8 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.921 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 20.064 |
| Deleterious probability by iFish2 | 0.9995 (Deleterious) |
| Deleterious probability by DeFine | 0.9555 (Deleterious) |
| Entrez Gene ID | 6774 (NCBI Gene) |
|---|---|
| Official Gene Symbol | STAT3 (GeneCards) |
| Number of variants in STAT3 in this database | 9 (view all the variants) |
| Full name | signal transducer and activator of transcription 3 |
| Band | 17q21.2 |
| Other IDs | Vega: OTTHUMG00000150645 OMIM: 102582 HGNC: HGNC:11364 Ensembl: ENSG00000168610 |
| Other names | APRF, HIES, ADMIO, ADMIO1 |
| Summary | The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is activated through phosphorylation in response to various cytokines and growth factors including IFNs, EGF, IL5, IL6, HGF, LIF and BMP2. This protein mediates the expression of a variety of genes in response to cell stimuli, and thus plays a key role in many cellular processes such as cell growth and apoptosis. The small GTPase Rac1 has been shown to bind and regulate the activity of this protein. PIAS3 protein is a specific inhibitor of this protein. Mutations in this gene are associated with infantile-onset multisystem autoimmune disease and hyper-immunoglobulin E syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Sep 2015] |
| Individual ID | 23623265.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 23623265 |
| Whose mosaic mutation | Father |
| Phenotype | 2 |
| Number of affected children | 3 ( male: 3; ) |
| Disease | Autosomal dominant Hyper IgE syndrome (view all the variants in this disease) |
| OMIM ID | 147060 |
| Pubmed ID | 23623265 |
|---|---|
| Title | Intermediate phenotypes in patients with autosomal dominant hyper IgE syndrome caused by somatic mosaicism |
| Journal | The Journal of Allergy and Clinical Immunology |
| Publication date | 2013.02 |
| Disease | Autosomal dominant hyper IgE syndrome |
| Number of cases | Male cases: 2; |