ETS1
ETS proto-oncogene 1, transcription factor
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]
Known Variants27 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1128334 | 11:128,328,959 | C/T | 3 prime UTR variant | — |
| rs4937333 | 11:128,330,520 | T/C | 3 prime UTR variant | benign |
| rs774575276 | 11:128,332,291 | C/T | — | uncertain significance |
| rs2497196258 | 11:128,350,196 | G/A | — | uncertain significance |
| rs118149282 | 11:128,350,288 | G/A | — | benign |
| rs753913610 | 11:128,354,721 | G/A | — | uncertain significance |
| rs137970618 | 11:128,354,757 | C/T | — | uncertain significance |
| rs575765833 | 11:128,354,772 | T/C | — | uncertain significance |
| rs1045241125 | 11:128,354,828 | G/A | — | uncertain significance |
| rs1246153557 | 11:128,354,915 | G/A | — | uncertain significance |
| rs766647712 | 11:128,354,930 | G/A | — | uncertain significance |
| rs142279599 | 11:128,354,963 | T/C | — | uncertain significance |
| rs149636924 | 11:128,355,977 | C/T | — | benign |
| rs79963544 | 11:128,359,269 | C/T | — | likely benign |
| rs7924522 | 11:128,380,742 | C/G | — | — |
| rs11221332 | 11:128,380,974 | C/T | intron variant | — |
| rs4373933 | 11:128,382,462 | C/G | — | — |
| rs7117768 | 11:128,383,924 | C/T | — | — |
| rs10790962 | 11:128,385,169 | G/C | — | — |
| rs7946009 | 11:128,387,422 | T/C | regulatory region variant | — |
| rs11820002 | 11:128,389,259 | G/A | — | — |
| rs10893884 | 11:128,410,264 | T/A | — | — |
| rs10893885 | 11:128,410,344 | A/G | intron variant | — |
| rs4245080 | 11:128,421,586 | A/G | regulatory region variant | — |
| rs193272250 | 11:128,426,297 | G/A | — | likely pathogenic |
| rs7117932 | 11:128,436,953 | C/T | intron variant | — |
| rs145793592 | 11:128,442,990 | G/A | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.