| Entrez Gene ID | 2113 |
|---|---|
| Official Gene Symbol | ETS1 (GeneCards) |
| Full name | ETS proto-oncogene 1, transcription factor |
| Location | 11q24.3 |
| Other ids | Vega : OTTHUMG00000165799 MIM : 164720 HGNC : HGNC:3488 Ensembl : ENSG00000134954 |
| Other names | p54, ETS-1, EWSR2, c-ets-1 |
| Summary | This gene encodes a member of the ETS family of transcription factors, which are defined by the presence of a conserved ETS DNA-binding domain that recognizes the core consensus DNA sequence GGAA/T in target genes. These proteins function either as transcriptional activators or repressors of numerous genes, and are involved in stem cell development, cell senescence and death, and tumorigenesis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011] |
Found 4 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 15021 | 2113 | ETS1 | 11 | 128486538 | 128486538 | Asymptomatic | HiSeq X Ten |
| 15216 | 2113 | ETS1 | 11 | 128485834 | 128485834 | Asymptomatic | HiSeq X Ten |
| 15557 | 2113 | ETS1 | 11 | 128492842 | 128492842 | Asymptomatic | HiSeq X Ten |
| 16038 | 2113 | ETS1 | 11 | 128355101 | 128355101 | Xeroderma Pigmentosum | HiSeq X Ten |