In acute myeloid leukemia, especially in the M2 subtype, the t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities. The translocation produces a chimeric gene made up of the 5'-region of the RUNX1 (AML1) gene fused to the 3'-region of the CBFA2T1 (MTG8) gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. The protein encoded by this gene binds to the AML1-MTG8 complex and may be important in promoting leukemogenesis. Several transcript variants are thought to exist for this gene, but the full-length natures of only three have been described. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for CBFA2T2. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = CBFA2T2 upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.
| TF | Mean coef | Binding | Outlier | TF→Gene link |
|---|
Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of CBFA2T2, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.
| Accessibility | Element | Dist. to TSS | Link type | TFs |
|---|---|---|---|---|
| chr20:33,443,149–33,444,777 | 46.2 kb | Distal (>10kb) Multiome | 726 | |
| chr20:33,475,400–33,476,091 | 14.3 kb | Distal (>10kb) Multiome | 98 | |
| chr20:33,477,323–33,477,813 | 12.5 kb | Distal (>10kb) Multiome | 124 | |
| chr20:33,489,654–33,490,762 | 80 bp | At TSS Multiome | 1000 | |
| chr20:33,663,243–33,664,235 | 173.7 kb | Distal (>10kb) Multiome | 895 | |
| chr20:33,666,358–33,668,405 | 176.7 kb | Distal (>10kb) Multiome | 603 | |
| chr20:33,673,732–33,675,136 | 184.4 kb | Distal (>10kb) Multiome | 826 | |
| chr20:33,685,755–33,686,963 | 196.5 kb | Distal (>10kb) Multiome | 830 | |
| chr20:33,720,042–33,720,684 | 230.3 kb | Distal (>10kb) Multiome | 584 | |
| chr20:33,731,496–33,732,906 | 242.1 kb | Distal (>10kb) Multiome | 1049 |
Genomic view of the CBFA2T2 locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.