| Variant ID | 917 |
|---|---|
| Entrez Gene ID | 6772 |
| Gene | STAT1 (GeneCards) |
| Location | hg19 2:191844538-191844538
hg38 2:190979812-190979812 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000002.11:g.191844538 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 563 |
| Amino acid changes in protein | E > K |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 3709285 |
| Variant occurences in COSMIC | 1(haematopoietic_and_lymphoid_tissue)|2(liver) |
| EIGEN score | 0.5508 |
| CADD Raw score (version 1.3) | 4.352951 (Deleterious) |
| FATHMM raw prediction score | 0.94664 (Tolerated) |
| SIFT score | 0.011 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 0.705 (Tolerated) |
| PROVEAN score | -2.82 (Deleterious) |
| MetaSVM score | 0.097 (Deleterious) |
| MetaLR score | 0.661 (Deleterious) |
| MCAP score | 0.192 (Deleterious) |
| FitCons score | 0.731 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.73 |
| PhyloP score based on multiple alignment of 100 vertebrates | 6.156 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 20.26 |
| Deleterious probability by iFish2 | 0.9013 (Deleterious) |
| Deleterious probability by DeFine | 0.9617 (Deleterious) |
| Entrez Gene ID | 6772 (NCBI Gene) |
|---|---|
| Official Gene Symbol | STAT1 (GeneCards) |
| Number of variants in STAT1 in this database | 4 (view all the variants) |
| Full name | signal transducer and activator of transcription 1 |
| Band | 2q32.2 |
| Other IDs | Vega: OTTHUMG00000132699 OMIM: 600555 HGNC: HGNC:11362 Ensembl: ENSG00000115415 |
| Other names | CANDF7, IMD31A, IMD31B, IMD31C, ISGF-3, STAT91 |
| 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 can be activated by various ligands including interferon-alpha, interferon-gamma, EGF, PDGF and IL6. This protein mediates the expression of a variety of genes, which is thought to be important for cell viability in response to different cell stimuli and pathogens. Two alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] |
| Individual ID | 27788131.02 (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; |