This gene encodes proteins related to the first discovered blood group system, ABO. Variation in the ABO gene (chromosome 9q34.2) is the basis of the ABO blood group, thus the presence of an allele determines the blood group in an individual. The 'O' blood group is caused by a deletion of guanine-258 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A or B antigen. Other minor alleles have been found for this gene. [provided by RefSeq, Apr 2022]
Transcription factors with Perturb-seq knockdown data for ABO. 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 = ABO 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 ABO, 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 |
|---|---|---|---|---|
| chr9:133,030,039–133,031,100 | 244.5 kb | Distal (>10kb) Multiome | 998 | |
| chr9:133,059,688–133,060,833 | 214.7 kb | Distal (>10kb) Multiome | 222 | |
| chr9:133,120,589–133,121,652 | 153.9 kb | Distal (>10kb) Multiome | 599 | |
| chr9:133,144,161–133,144,920 | 130.6 kb | Distal (>10kb) Multiome | 776 | |
| chr9:133,147,412–133,149,938 | 125.8 kb | Distal (>10kb) Multiome | 979 | |
| chr9:133,163,575–133,164,128 | 111.3 kb | Distal (>10kb) Multiome | 308 | |
| chr9:133,238,117–133,239,420 | 36.6 kb | Distal (>10kb) Multiome | 620 | |
| chr9:133,275,128–133,275,473 | at TSS | At TSS | 214 | |
| chr9:133,335,737–133,336,702 | 61.0 kb | Distal (>10kb) Multiome | 1038 | |
| chr9:133,347,434–133,348,830 | 72.9 kb | Distal (>10kb) Multiome | 893 | |
| chr9:133,356,029–133,357,223 | 81.4 kb | Distal (>10kb) Multiome | 648 | |
| chr9:133,375,394–133,376,740 | 101.0 kb | Distal (>10kb) Multiome | 834 | |
| chr9:133,417,747–133,418,516 | 142.9 kb | Distal (>10kb) Multiome | 1015 | |
| chr9:133,428,444–133,429,113 | 153.5 kb | Distal (>10kb) Multiome | 255 | |
| chr9:133,429,621–133,430,196 | 154.7 kb | Distal (>10kb) Multiome | 197 | |
| chr9:133,458,883–133,460,984 | 184.6 kb | Distal (>10kb) Multiome | 835 | |
| chr9:133,478,485–133,479,696 | 204.0 kb | Distal (>10kb) Multiome | 653 |
Genomic view of the ABO 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.