| Variant ID | 1129 |
|---|---|
| Entrez Gene ID | 2145 |
| Gene | EZH1 (GeneCards) |
| Location | hg19 17:40865232-40865232
hg38 17:42713214-42713214 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000017.10:g.40865232 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 400 |
| Amino acid changes in protein | S > F |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.6157 |
| CADD Raw score (version 1.3) | 6.769986 (Deleterious) |
| FATHMM raw prediction score | 0.99711 (Tolerated) |
| SIFT score | 0.002 (Deleterious) |
| LRT score | 0.004 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.255 (Deleterious) |
| PROVEAN score | -1.96 (Tolerated) |
| MetaSVM score | 0.327 (Deleterious) |
| MetaLR score | 0.655 (Deleterious) |
| MCAP score | 0.238 (Deleterious) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.5 |
| PhyloP score based on multiple alignment of 100 vertebrates | 8.549 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.582 |
| Deleterious probability by iFish2 | 0.653 (Deleterious) |
| Deleterious probability by DeFine | 0.9655 (Deleterious) |
| Entrez Gene ID | 2145 (NCBI Gene) |
|---|---|
| Official Gene Symbol | EZH1 (GeneCards) |
| Number of variants in EZH1 in this database | 1 (view all the variants) |
| Full name | enhancer of zeste 1 polycomb repressive complex 2 subunit |
| Band | 17q21.2 |
| Other IDs | Vega: OTTHUMG00000180645 OMIM: 601674 HGNC: HGNC:3526 Ensembl: ENSG00000108799 |
| Other names | KMT6B |
| Summary | EZH1 is a component of a noncanonical Polycomb repressive complex-2 (PRC2) that mediates methylation of histone H3 (see MIM 602812) lys27 (H3K27) and functions in the maintenance of embryonic stem cell pluripotency and plasticity (Shen et al., 2008 [PubMed 19026780]).[supplied by OMIM, Mar 2009] |
| 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; |