This gene encodes a transcription factor containing a POU homeodomain that plays a key role in embryonic development and stem cell pluripotency. Aberrant expression of this gene in adult tissues is associated with tumorigenesis. This gene can participate in a translocation with the Ewing's sarcoma gene on chromosome 21, which also leads to tumor formation. Alternative splicing, as well as usage of alternative AUG and non-AUG translation initiation codons, results in multiple isoforms. One of the AUG start codons is polymorphic in human populations. Related pseudogenes have been identified on chromosomes 1, 3, 8, 10, and 12. [provided by RefSeq, Oct 2013]
Transcription factors with Perturb-seq knockdown data for POU5F1. 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 = POU5F1 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 POU5F1, 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 |
|---|---|---|---|---|
| chr6:30,880,638–30,881,295 | 289.7 kb | Distal (>10kb) Multiome | 124 | |
| chr6:30,882,560–30,883,422 | 287.8 kb | Distal (>10kb) Multiome | 308 | |
| chr6:30,883,625–30,885,122 | 286.3 kb | Distal (>10kb) Multiome | 538 | |
| chr6:30,907,770–30,908,494 | 262.6 kb | Distal (>10kb) Multiome | 1005 | |
| chr6:30,913,674–30,914,800 | 256.5 kb | Distal (>10kb) Multiome | 944 | |
| chr6:30,942,475–30,943,087 | 227.9 kb | Distal (>10kb) Multiome | 300 | |
| chr6:30,955,192–30,955,975 | 215.0 kb | Distal (>10kb) Multiome | 524 | |
| chr6:31,157,467–31,159,255 | 12.3 kb | Distal (>10kb) Multiome | 740 | |
| chr6:31,171,796–31,173,419 | 1.4 kb | Proximal (<10kb) Multiome | 178 | |
| chr6:31,180,500–31,180,947 | 9.8 kb | Proximal (<10kb) | 130 | |
| chr6:31,307,823–31,308,922 | 137.5 kb | Distal (>10kb) Multiome | 248 | |
| chr6:31,366,884–31,367,398 | 196.4 kb | Distal (>10kb) Multiome | 433 | |
| chr6:31,399,631–31,400,231 | 229.2 kb | Distal (>10kb) Multiome | 678 | |
| chr6:31,403,046–31,404,269 | 232.9 kb | Distal (>10kb) Multiome | 796 | |
| chr6:31,441,682–31,442,105 | 271.1 kb | Distal (>10kb) Multiome | 316 | |
| chr6:31,462,703–31,463,323 | 292.4 kb | Distal (>10kb) Multiome | 352 |
Genomic view of the POU5F1 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.