CBFA2T3
CBFA2/RUNX1 partner transcriptional co-repressor 3
Summary
This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(16;21)(q24;q22) translocation is one of the less common karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. This gene is also a putative breast tumor suppressor. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010]
Known Variants81 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1461949410 | 16:88,943,388 | C/T | — | uncertain significance |
| rs775600357 | 16:88,943,412 | G/C | — | uncertain significance |
| rs562711336 | 16:88,943,433 | C/A | — | uncertain significance |
| rs868444231 | 16:88,943,434 | G/A | — | uncertain significance |
| rs527683616 | 16:88,943,512 | C/T | — | uncertain significance |
| rs1043337133 | 16:88,943,530 | G/A | — | uncertain significance |
| rs536152938 | 16:88,943,533 | C/T | — | uncertain significance |
| rs1030768134 | 16:88,943,551 | G/A | — | uncertain significance |
| rs117072674 | 16:88,945,400 | C/T | upstream gene variant | — |
| rs79678180 | 16:88,945,738 | C/T | — | benign |
| rs770051870 | 16:88,945,775 | G/A | — | uncertain significance |
| rs761802573 | 16:88,945,844 | C/T | — | uncertain significance |
| rs770771149 | 16:88,947,188 | G/A | — | uncertain significance |
| rs200535158 | 16:88,947,723 | C/T | — | uncertain significance |
| rs770602306 | 16:88,947,731 | C/T | — | likely benign |
| rs756757934 | 16:88,947,734 | C/T | — | uncertain significance |
| rs201101361 | 16:88,947,747 | C/T | — | likely benign |
| rs371447156 | 16:88,947,750 | C/T | — | uncertain significance |
| rs762770559 | 16:88,947,756 | C/T | — | uncertain significance |
| rs199953961 | 16:88,947,780 | C/T | — | likely benign |
| rs763942453 | 16:88,947,791 | C/T | — | uncertain significance |
| rs370798291 | 16:88,947,794 | C/T | — | uncertain significance |
| rs372853568 | 16:88,947,795 | G/A | — | uncertain significance |
| rs757681495 | 16:88,947,860 | C/T | — | uncertain significance |
| rs766793137 | 16:88,949,119 | G/A | — | uncertain significance |
| rs138121416 | 16:88,949,154 | C/T | — | uncertain significance |
| rs781211630 | 16:88,949,157 | G/A | — | uncertain significance |
| rs150879448 | 16:88,951,463 | G/A | — | uncertain significance |
| rs372751882 | 16:88,951,474 | C/T | — | uncertain significance |
| rs377163386 | 16:88,951,484 | G/A | — | uncertain significance |
| rs760610315 | 16:88,951,498 | C/T | — | uncertain significance |
| rs1213698318 | 16:88,951,515 | G/T | — | uncertain significance |
| rs151180006 | 16:88,951,552 | G/A | — | uncertain significance |
| rs940365095 | 16:88,951,558 | G/A | — | uncertain significance |
| rs61757659 | 16:88,951,594 | C/T | — | likely benign |
| rs761363984 | 16:88,951,620 | C/T | — | likely benign |
| rs2543775773 | 16:88,951,625 | T/G | — | uncertain significance |
| rs146630443 | 16:88,951,648 | G/A | — | uncertain significance |
| rs759184672 | 16:88,952,378 | G/A | — | uncertain significance |
| rs146833832 | 16:88,952,391 | C/T | — | uncertain significance |
| rs546122907 | 16:88,955,924 | G/A | — | — |
| rs188869248 | 16:88,956,173 | C/G | regulatory region variant | — |
| rs758562596 | 16:88,958,674 | C/T | — | uncertain significance |
| rs779831852 | 16:88,958,681 | G/A | — | uncertain significance |
| rs1220675328 | 16:88,958,720 | G/T | — | uncertain significance |
| rs745883820 | 16:88,958,765 | C/T | — | uncertain significance |
| rs1406987240 | 16:88,958,819 | G/A | — | uncertain significance |
| rs772959918 | 16:88,958,834 | C/T | — | uncertain significance |
| rs376489220 | 16:88,958,854 | C/T | — | uncertain significance |
| rs1567585640 | 16:88,958,879 | T/C | — | uncertain significance |
| rs546848555 | 16:88,959,295 | C/G | — | — |
| rs547859046 | 16:88,961,093 | C/G | — | — |
| rs2543833819 | 16:88,964,512 | C/T | — | uncertain significance |
| rs61734177 | 16:88,964,557 | C/G | — | uncertain significance |
| rs844396 | 16:88,966,667 | C/T | intron variant | — |
| rs533581 | 16:88,967,437 | T/C | intron variant | — |
| rs539654957 | 16:88,967,964 | C/T | — | likely benign |
| rs201395224 | 16:88,967,965 | G/A | — | uncertain significance |
| rs141249194 | 16:88,967,984 | G/T | — | uncertain significance |
| rs776031429 | 16:88,968,016 | G/C | — | uncertain significance |
| rs138119553 | 16:88,974,806 | C/T | intron variant | — |
| rs533406 | 16:88,974,860 | A/G | intron variant | — |
| rs8058234 | 16:88,975,447 | C/G | intron variant | — |
| rs7405380 | 16:88,975,910 | G/C | — | — |
| rs7404039 | 16:88,975,954 | A/T | — | — |
| rs529900 | 16:88,976,968 | G/T | — | — |
| rs371310576 | 16:88,981,367 | C/G | — | — |
| rs115268031 | 16:88,981,420 | G/T | regulatory region variant | — |
| rs190233891 | 16:88,983,054 | G/A | intron variant | — |
| rs561732 | 16:88,988,989 | T/A | — | — |
| rs16965180 | 16:88,989,862 | A/T | — | — |
| rs62045796 | 16:88,990,486 | G/A | regulatory region variant | — |
| rs147376209 | 16:88,995,595 | T/G | regulatory region variant | — |
| rs3826082 | 16:88,998,035 | C/T | intron variant | — |
| rs11864991 | 16:89,001,430 | A/G | upstream gene variant | — |
| rs146447637 | 16:89,009,494 | C/T | upstream gene variant | — |
| rs202218657 | 16:89,016,945 | C/T | — | likely benign |
| rs554870649 | 16:89,021,757 | A/G | — | — |
| rs549903041 | 16:89,024,749 | A/C | — | — |
| rs553467516 | 16:89,028,009 | A/G | — | — |
| rs774055332 | 16:89,043,205 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.