This gene encodes a multi-domain protein that is predominantly expressed in brain and testis. This protein interacts with amyloid beta protein precursor (AbetaPP) and may have a role in normal brain development, and in the pathogenesis of Alzheimer's disease. Expression of this gene has been shown to be elevated in patients with pre-B cell acute lymphocytic leukemia associated with t(1;19) translocation. Alternatively spliced transcript variants encoding different isoforms (some with different subcellular localization, PMID:15004329) have been described for this gene. [provided by RefSeq, Aug 2011]
Transcription factors with Perturb-seq knockdown data for ANKS1B. 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 = ANKS1B 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 ANKS1B, 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 |
|---|---|---|---|---|
| chr12:99,981,684–99,981,827 | 2.4 kb | Proximal (<10kb) | 21 | |
| chr12:99,983,831–99,985,388 | 559 bp | At TSS Multiome | 468 | |
| chr12:100,064,385–100,065,093 | 80.4 kb | Distal (>10kb) Multiome | 21 | |
| chr12:100,141,965–100,143,502 | 158.6 kb | Distal (>10kb) Multiome | 848 | |
| chr12:100,154,424–100,155,274 | 170.7 kb | Distal (>10kb) Multiome | 267 | |
| chr12:100,163,261–100,164,604 | 179.8 kb | Distal (>10kb) Multiome | 445 | |
| chr12:100,199,080–100,201,296 | 216.5 kb | Distal (>10kb) Multiome | 955 | |
| chr12:100,266,312–100,267,966 | 282.8 kb | Distal (>10kb) Multiome | 833 |
Genomic view of the ANKS1B 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.