| Variant ID | 1136 |
|---|---|
| Entrez Gene ID | 9817 |
| Gene | KEAP1 (GeneCards) |
| Location | hg19 19:10597407-10597407
hg38 19:10486731-10486731 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000019.9:g.10597407 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 599 |
| Amino acid changes in protein | S > L |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2251 |
| CADD Raw score (version 1.3) | 2.270777 (Deleterious) |
| FATHMM raw prediction score | 0.84647 (Tolerated) |
| SIFT score | 0.142 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 0.495 (Tolerated) |
| PROVEAN score | -2.61 (Deleterious) |
| MetaSVM score | -0.872 (Tolerated) |
| MetaLR score | 0.207 (Tolerated) |
| MCAP score | 0.057 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.9 |
| PhyloP score based on multiple alignment of 100 vertebrates | 8.983 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 17.818 |
| Deleterious probability by iFish2 | 0.9934 (Deleterious) |
| Deleterious probability by DeFine | 0.9545 (Deleterious) |
| Entrez Gene ID | 9817 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KEAP1 (GeneCards) |
| Number of variants in KEAP1 in this database | 11 (view all the variants) |
| Full name | kelch like ECH associated protein 1 |
| Band | 19p13.2 |
| Other IDs | Vega: OTTHUMG00000180579 OMIM: 606016 HGNC: HGNC:23177 Ensembl: ENSG00000079999 |
| Other names | INrf2, KLHL19 |
| Summary | This gene encodes a protein containing KELCH-1 like domains, as well as a BTB/POZ domain. Kelch-like ECH-associated protein 1 interacts with NF-E2-related factor 2 in a redox-sensitive manner and the dissociation of the proteins in the cytoplasm is followed by transportation of NF-E2-related factor 2 to the nucleus. This interaction results in the expression of the catalytic subunit of gamma-glutamylcysteine synthetase. Two alternatively spliced transcript variants encoding the same isoform have been found for this gene. [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; |