SPI1
Spi-1 proto-oncogene
Summary
This gene encodes an ETS-domain transcription factor that activates gene expression during myeloid and B-lymphoid cell development. The nuclear protein binds to a purine-rich sequence known as the PU-box found near the promoters of target genes, and regulates their expression in coordination with other transcription factors and cofactors. The protein can also regulate alternative splicing of target genes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants42 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1057233 | 11:47,376,448 | G/A | regulatory region variant | — |
| rs201685606 | 11:47,376,831 | C/T | — | uncertain significance |
| rs2095906404 | 11:47,376,869 | A/C | — | likely pathogenic |
| rs765064980 | 11:47,376,902 | C/G | — | conflicting classifications of pathogenicity |
| rs2095906547 | 11:47,376,959 | T/G | — | likely pathogenic |
| rs2495795874 | 11:47,377,018 | C/T | — | likely pathogenic |
| rs71475909 | 11:47,377,283 | A/C | — | — |
| rs10769256 | 11:47,378,396 | C/G | — | — |
| rs1542321 | 11:47,379,615 | G/C | — | — |
| rs10734557 | 11:47,380,061 | A/C | — | benign |
| rs544501401 | 11:47,380,142 | A/G | — | — |
| rs3740688 | 11:47,380,340 | G/T | intron variant | benign |
| rs558503796 | 11:47,380,446 | C/T | — | uncertain significance |
| rs757210500 | 11:47,380,479 | C/T | — | uncertain significance |
| rs2495810784 | 11:47,380,500 | T/A | — | uncertain significance |
| rs2095916574 | 11:47,380,525 | G/C | — | pathogenic |
| rs3740689 | 11:47,380,593 | A/G | — | benign |
| rs2142884393 | 11:47,381,406 | G/A | — | pathogenic |
| rs1595857406 | 11:47,381,423 | T/G | — | uncertain significance |
| rs138934569 | 11:47,381,441 | G/A | — | uncertain significance |
| rs756375781 | 11:47,381,451 | C/T | — | uncertain significance |
| rs368215281 | 11:47,381,548 | G/A | — | likely benign |
| rs2495813727 | 11:47,381,593 | T/G | — | pathogenic |
| rs7105851 | 11:47,383,275 | T/C | intron variant | — |
| rs141947880 | 11:47,385,350 | C/T | intron variant | — |
| rs12801188 | 11:47,388,214 | G/A | regulatory region variant | — |
| rs35996350 | 11:47,389,223 | A/G | regulatory region variant | — |
| rs4752987 | 11:47,390,692 | A/G | intron variant | — |
| rs10769258 | 11:47,391,039 | C/A | — | — |
| rs4752829 | 11:47,396,654 | G/A | intron variant | — |
| rs2495842567 | 11:47,397,229 | G/A | — | uncertain significance |
| rs56030824 | 11:47,397,353 | G/A | — | benign |
| rs12146565 | 11:47,398,963 | G/A | regulatory region variant | — |
| rs771555522 | 11:47,399,862 | G/C | — | benign |
| rs7111957 | 11:47,409,212 | C/T | upstream gene variant | — |
| rs11821917 | 11:47,410,166 | T/C | — | — |
| rs12803525 | 11:47,413,475 | G/A | intron variant | — |
| rs145758003 | 11:47,414,372 | G/A | intron variant | — |
| rs12802273 | 11:47,418,306 | T/C | upstream gene variant | — |
| rs58965622 | 11:47,418,465 | C/G | upstream gene variant | — |
| rs874896 | 11:47,418,953 | C/T | — | — |
| rs7924485 | 11:47,419,129 | A/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.