This gene encodes a WD40-repeat-containing protein that is localized to the nucleolus. Mutation of this gene causes North American Indian childhood cirrhosis, a severe intrahepatic cholestasis that results in transient neonatal jaundice, and progresses to periportal fibrosis and cirrhosis in childhood and adolescence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Transcription factors with Perturb-seq knockdown data for UTP4. 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 = UTP4 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 UTP4, 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 |
|---|---|---|---|---|
| chr16:68,843,238–68,844,359 | 288.8 kb | Distal (>10kb) Multiome | 918 | |
| chr16:69,071,809–69,072,879 | 60.3 kb | Distal (>10kb) Multiome | 386 | |
| chr16:69,105,371–69,107,181 | 26.4 kb | Distal (>10kb) Multiome | 631 | |
| chr16:69,131,353–69,133,059 | 208 bp | At TSS Multiome | 961 | |
| chr16:69,170,078–69,170,680 | 37.7 kb | Distal (>10kb) Multiome | 43 | |
| chr16:69,186,569–69,187,845 | 54.5 kb | Distal (>10kb) Multiome | 878 | |
| chr16:69,310,637–69,312,153 | 178.6 kb | Distal (>10kb) Multiome | 963 | |
| chr16:69,329,919–69,331,310 | 198.0 kb | Distal (>10kb) Multiome | 977 | |
| chr16:69,339,182–69,340,174 | 207.0 kb | Distal (>10kb) Multiome | 1014 | |
| chr16:69,385,555–69,386,170 | 253.3 kb | Distal (>10kb) Multiome | 857 | |
| chr16:69,424,128–69,425,019 | 291.9 kb | Distal (>10kb) Multiome | 907 |
Genomic view of the UTP4 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.