This gene encodes a protein with multiple ankyrin repeat domains and a single KH-domain. The protein is thought to function as a scaffolding protein, and it may be involved in the regulation of caspases and thereby play an antiapoptotic role in cell survival. Alternative splicing results in multiple transcript variants, one of which generates a fusion transcript (MASK-BP3) with the downstream eIF4E-binding protein 3 (EIF4EBP3) gene, resulting in a protein comprised of the ANKHD1 sequence for the majority of the protein and a different C-terminus due to an alternate reading frame for the EIF4EBP3 segments. [provided by RefSeq, Sep 2010]
Transcription factors with Perturb-seq knockdown data for ANKHD1. 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 = ANKHD1 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 ANKHD1, 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 |
|---|---|---|---|---|
| chr5:140,107,138–140,108,849 | 293.9 kb | Distal (>10kb) Multiome | 993 | |
| chr5:140,112,921–140,114,941 | 287.8 kb | Distal (>10kb) Multiome | 811 | |
| chr5:140,145,842–140,146,580 | 255.7 kb | Distal (>10kb) Multiome | 366 | |
| chr5:140,157,178–140,157,756 | 244.4 kb | Distal (>10kb) Multiome | 504 | |
| chr5:140,174,682–140,176,221 | 226.7 kb | Distal (>10kb) Multiome | 959 | |
| chr5:140,302,631–140,303,538 | 98.7 kb | Distal (>10kb) Multiome | 552 | |
| chr5:140,345,869–140,347,147 | 55.2 kb | Distal (>10kb) Multiome | 671 | |
| chr5:140,363,055–140,363,697 | 38.4 kb | Distal (>10kb) Multiome | 542 | |
| chr5:140,372,779–140,373,538 | 28.6 kb | Distal (>10kb) Multiome | 302 | |
| chr5:140,400,395–140,402,925 | 256 bp | At TSS Multiome | 1129 | |
| chr5:140,546,917–140,548,500 | 145.8 kb | Distal (>10kb) Multiome | 784 | |
| chr5:140,556,971–140,557,959 | 155.7 kb | Distal (>10kb) Multiome | 886 | |
| chr5:140,564,055–140,565,123 | 162.8 kb | Distal (>10kb) Multiome | 827 | |
| chr5:140,639,043–140,640,146 | 237.6 kb | Distal (>10kb) Multiome | 898 | |
| chr5:140,647,175–140,648,159 | 245.9 kb | Distal (>10kb) Multiome | 863 | |
| chr5:140,664,368–140,665,161 | 263.0 kb | Distal (>10kb) Multiome | 856 | |
| chr5:140,673,200–140,673,759 | 271.8 kb | Distal (>10kb) Multiome | 144 | |
| chr5:140,691,053–140,691,933 | 289.7 kb | Distal (>10kb) Multiome | 924 | |
| chr5:140,699,981–140,700,742 | 298.6 kb | Distal (>10kb) Multiome | 607 |
Genomic view of the ANKHD1 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.