| Variant ID | 1074 |
|---|---|
| Entrez Gene ID | 9687 |
| Gene | GREB1 (GeneCards) |
| Location | hg19 2:11738017-11738017
hg38 2:11597891-11597891 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000002.11:g.11738017 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 689 |
| Amino acid changes in protein | G > R |
| 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 |
|---|---|
| EIGEN score | 0.793 |
| CADD Raw score (version 1.3) | 6.561779 (Deleterious) |
| FATHMM raw prediction score | 0.9619 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.265 (Deleterious) |
| PROVEAN score | -5.97 (Deleterious) |
| MetaSVM score | -0.228 (Tolerated) |
| MetaLR score | 0.407 (Tolerated) |
| MCAP score | 0.093 (Deleterious) |
| FitCons score | 0.706 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.56 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.654 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.881 |
| Deleterious probability by iFish2 | 0.6073 (Deleterious) |
| Deleterious probability by DeFine | 0.9729 (Deleterious) |
| Entrez Gene ID | 9687 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GREB1 (GeneCards) |
| Number of variants in GREB1 in this database | 3 (view all the variants) |
| Full name | growth regulating estrogen receptor binding 1 |
| Band | 2p25.1 |
| Other IDs | Vega: OTTHUMG00000141276 OMIM: 611736 HGNC: HGNC:24885 Ensembl: ENSG00000196208 |
| Other names | None |
| Summary | This gene is an estrogen-responsive gene that is an early response gene in the estrogen receptor-regulated pathway. It is thought to play an important role in hormone-responsive tissues and cancer. Three alternatively spliced transcript variants encoding distinct isoforms 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; |