| Variant ID | 872 |
|---|---|
| Entrez Gene ID | 84678 |
| Gene | KDM2B (GeneCards) |
| Location | hg19 12:121987466-121987466
hg38 12:121549561-121549561 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000012.11:g.121987466 A>G (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 159 |
| Amino acid changes in protein | Y > H |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.8713 |
| CADD Raw score (version 1.3) | 6.191768 (Deleterious) |
| FATHMM raw prediction score | 0.98597 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.375 (Deleterious) |
| PROVEAN score | -3.51 (Deleterious) |
| MetaSVM score | 0.438 (Deleterious) |
| MetaLR score | 0.63 (Deleterious) |
| MCAP score | 0.337 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.96 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.321 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.785 |
| Deleterious probability by iFish2 | 0.5118 (Deleterious) |
| Deleterious probability by DeFine | 0.9725 (Deleterious) |
| Entrez Gene ID | 84678 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KDM2B (GeneCards) |
| Number of variants in KDM2B in this database | 1 (view all the variants) |
| Full name | lysine demethylase 2B |
| Band | 12q24.31 |
| Other IDs | Vega: OTTHUMG00000169071 OMIM: 609078 HGNC: HGNC:13610 Ensembl: ENSG00000089094 |
| Other names | CXXC2, Fbl10, PCCX2, FBXL10, JHDM1B |
| Summary | This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been determined. [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; |