This locus encodes an ankryin repeat domain-containing protein. The encoded protein inhibits ligand-dependent activation of transcription. Mutations in this gene have been associated with KBG syndrome, which is characterized by macrodontia, distinctive craniofacial features, short stature, skeletal anomalies, global developmental delay, seizures and intellectual disability. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 2 and X. [provided by RefSeq, Jan 2012]
Transcription factors with Perturb-seq knockdown data for ANKRD11. 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 = ANKRD11 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 ANKRD11, 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 |
|---|---|---|---|---|
| chr16:89,200,493–89,202,260 | 288.7 kb | Distal (>10kb) Multiome | 598 | |
| chr16:89,217,337–89,217,960 | 272.9 kb | Distal (>10kb) Multiome | 857 | |
| chr16:89,240,678–89,241,104 | 249.5 kb | Distal (>10kb) Multiome | 864 | |
| chr16:89,246,875–89,247,970 | 243.0 kb | Distal (>10kb) Multiome | 740 | |
| chr16:89,290,889–89,291,526 | 199.5 kb | Distal (>10kb) Multiome HiCAR | 171 | |
| chr16:89,360,791–89,361,256 | 129.6 kb | Distal (>10kb) Multiome HiCAR | 194 | |
| chr16:89,473,854–89,474,466 | 16.4 kb | Distal (>10kb) Multiome | 213 | |
| chr16:89,489,154–89,489,850 | 1.3 kb | Proximal (<10kb) Multiome | 596 | |
| chr16:89,490,254–89,491,281 | 172 bp | At TSS Multiome | 817 | |
| chr16:89,507,395–89,509,159 | 17.7 kb | Distal (>10kb) Multiome | 987 | |
| chr16:89,560,298–89,561,204 | 70.1 kb | Distal (>10kb) Multiome | 1030 | |
| chr16:89,564,633–89,566,356 | 75.3 kb | Distal (>10kb) Multiome | 894 | |
| chr16:89,574,359–89,574,949 | 84.2 kb | Distal (>10kb) Multiome | 373 | |
| chr16:89,657,432–89,658,521 | 167.3 kb | Distal (>10kb) Multiome | 859 | |
| chr16:89,686,359–89,687,641 | 196.2 kb | Distal (>10kb) Multiome | 1006 | |
| chr16:89,699,933–89,702,566 | 211.4 kb | Distal (>10kb) Multiome | 1079 | |
| chr16:89,711,278–89,712,334 | 221.2 kb | Distal (>10kb) Multiome | 443 | |
| chr16:89,720,440–89,722,486 | 230.8 kb | Distal (>10kb) Multiome | 1048 |
Genomic view of the ANKRD11 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.