This gene encodes a protein with several conserved domains, however, its exact function is not known. Mutations in this gene are associated with poikiloderma with neutropenia (PN), which shows phenotypic overlap with Rothmund-Thomson syndrome (RTS) caused by mutations in the RECQL4 gene. It is believed that this gene product interacts with RECQL4 protein via SMAD4 proteins, explaining the partial clinical overlap between PN and RTS. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011]
Transcription factors with Perturb-seq knockdown data for USB1. 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 = USB1 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 USB1, 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 |
|---|---|---|---|---|
| chr16:57,734,819–57,736,404 | 265.9 kb | Distal (>10kb) Multiome | 885 | |
| chr16:57,757,066–57,757,860 | 244.0 kb | Distal (>10kb) Multiome | 470 | |
| chr16:57,774,953–57,776,466 | 225.5 kb | Distal (>10kb) Multiome | 273 | |
| chr16:57,801,721–57,803,781 | 198.9 kb | Distal (>10kb) Multiome | 918 | |
| chr16:57,846,136–57,846,734 | 154.9 kb | Distal (>10kb) Multiome | 213 | |
| chr16:57,859,222–57,859,950 | 141.8 kb | Distal (>10kb) Multiome | 269 | |
| chr16:57,984,418–57,986,121 | 16.4 kb | Distal (>10kb) Multiome | 447 | |
| chr16:57,994,896–57,995,062 | 6.4 kb | Proximal (<10kb) | 128 | |
| chr16:57,999,954–58,001,881 | 173 bp | At TSS Multiome | 920 | |
| chr16:58,010,897–58,011,309 | 9.5 kb | Proximal (<10kb) | 27 | |
| chr16:58,024,574–58,028,306 | 24.2 kb | Distal (>10kb) Multiome | 1046 | |
| chr16:58,032,341–58,033,244 | 31.4 kb | Distal (>10kb) Multiome | 283 | |
| chr16:58,128,725–58,130,027 | 128.1 kb | Distal (>10kb) Multiome | 1095 | |
| chr16:58,197,509–58,198,705 | 196.8 kb | Distal (>10kb) Multiome | 490 | |
| chr16:58,236,247–58,236,852 | 235.2 kb | Distal (>10kb) Multiome | 355 | |
| chr16:58,249,584–58,250,557 | 248.6 kb | Distal (>10kb) Multiome | 641 |
Genomic view of the USB1 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.