| Variant ID | 793 |
|---|---|
| Entrez Gene ID | 3656 |
| Gene | IRAK2 (GeneCards) |
| Location | hg19 3:10280431-10280431
hg38 3:10238747-10238747 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000003.11:g.10280431 G>T (Genome Assembly: hg19) |
| 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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.9684 |
| CADD Raw score (version 1.3) | 4.101154 (Deleterious) |
| FATHMM raw prediction score | 0.95653 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.099 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.26 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.562 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.361 |
| Deleterious probability by DeFine | 0.9655 (Deleterious) |
| Entrez Gene ID | 3656 (NCBI Gene) |
|---|---|
| Official Gene Symbol | IRAK2 (GeneCards) |
| Number of variants in IRAK2 in this database | 1 (view all the variants) |
| Full name | interleukin 1 receptor associated kinase 2 |
| Band | 3p25.3 |
| Other IDs | Vega: OTTHUMG00000155358 OMIM: 603304 HGNC: HGNC:6113 Ensembl: ENSG00000134070 |
| Other names | IRAK-2 |
| Summary | IRAK2 encodes the interleukin-1 receptor-associated kinase 2, one of two putative serine/threonine kinases that become associated with the interleukin-1 receptor (IL1R) upon stimulation. IRAK2 is reported to participate in the IL1-induced upregulation of NF-kappaB. [provided by RefSeq, Jul 2008] |
| Individual ID | 27788131.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |