| Variant ID | 1127 |
|---|---|
| Entrez Gene ID | 7090 |
| Gene | TLE3 (GeneCards) |
| Location | hg19 15:70351155-70351155
hg38 15:70058816-70058816 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000015.9:g.70351155 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.1292 |
| CADD Raw score (version 1.3) | 5.421077 (Deleterious) |
| FATHMM raw prediction score | 0.97705 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.257 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.3 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.813 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.143 |
| Deleterious probability by DeFine | 0.9664 (Deleterious) |
| Entrez Gene ID | 7090 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TLE3 (GeneCards) |
| Number of variants in TLE3 in this database | 7 (view all the variants) |
| Full name | transducin like enhancer of split 3 |
| Band | 15q23 |
| Other IDs | Vega: OTTHUMG00000172121 OMIM: 600190 HGNC: HGNC:11839 Ensembl: ENSG00000140332 |
| Other names | ESG, ESG3, GRG3, HsT18976 |
| Summary | This gene encodes a transcriptional co-repressor protein that belongs to the transducin-like enhancer family of proteins. The members of this family function in the Notch signaling pathway that regulates determination of cell fate during development. Expression of this gene has been associated with a favorable outcome to chemotherapy with taxanes for ovarian carcinoma. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013] |
| 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; |