| Variant ID | 915 |
|---|---|
| Entrez Gene ID | 9687 |
| Gene | GREB1 (GeneCards) |
| Location | hg19 2:11729010-11729010
hg38 2:11588884-11588884 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000002.11:g.11729010 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 433 |
| Amino acid changes in protein | S > F |
| 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 | 0.6354 |
| CADD Raw score (version 1.3) | 5.870607 (Deleterious) |
| FATHMM raw prediction score | 0.92823 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.22 (Deleterious) |
| PROVEAN score | -4.67 (Deleterious) |
| MetaSVM score | -0.284 (Tolerated) |
| MetaLR score | 0.35 (Tolerated) |
| MCAP score | 0.088 (Deleterious) |
| FitCons score | 0.706 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.95 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.964 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 18.205 |
| Deleterious probability by iFish2 | 0.9088 (Deleterious) |
| Deleterious probability by DeFine | 0.9707 (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; |