This gene encodes an enzyme in the heme biosynthetic pathway. This enzyme is responsible for catalyzing the conversion of uroporphyrinogen to coproporphyrinogen through the removal of four carboxymethyl side chains. Mutations and deficiency in this enzyme are known to cause familial porphyria cutanea tarda and hepatoerythropoetic porphyria.[provided by RefSeq, Aug 2010]
Transcription factors with Perturb-seq knockdown data for UROD. 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 = UROD 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 UROD, 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 |
|---|---|---|---|---|
| chr1:44,720,791–44,722,329 | 290.5 kb | Distal (>10kb) Multiome | 1059 | |
| chr1:44,730,465–44,731,848 | 281.2 kb | Distal (>10kb) Multiome | 1164 | |
| chr1:44,739,368–44,740,265 | 272.5 kb | Distal (>10kb) Multiome | 828 | |
| chr1:44,775,008–44,776,007 | 236.7 kb | Distal (>10kb) Multiome | 1041 | |
| chr1:44,783,907–44,784,940 | 227.8 kb | Distal (>10kb) Multiome HiCAR | 497 | |
| chr1:44,786,163–44,786,815 | 225.8 kb | Distal (>10kb) Multiome HiCAR | 616 | |
| chr1:44,799,477–44,801,039 | 212.1 kb | Distal (>10kb) Multiome HiCAR | 1017 | |
| chr1:44,807,115–44,808,920 | 203.6 kb | Distal (>10kb) Multiome HiCAR | 987 | |
| chr1:44,812,965–44,814,105 | 198.4 kb | Distal (>10kb) Multiome | 349 | |
| chr1:44,818,937–44,820,693 | 192.3 kb | Distal (>10kb) Multiome HiCAR | 1101 | |
| chr1:44,842,822–44,843,695 | 168.9 kb | Distal (>10kb) Multiome HiCAR | 539 | |
| chr1:44,986,311–44,986,894 | 25.6 kb | Distal (>10kb) Multiome | 979 | |
| chr1:45,010,856–45,013,180 | 10 bp | At TSS Multiome | 909 | |
| chr1:45,014,536–45,014,759 | 2.3 kb | Proximal (<10kb) | 267 | |
| chr1:45,018,707–45,018,961 | 6.5 kb | Proximal (<10kb) | 178 | |
| chr1:45,205,664–45,207,097 | 194.3 kb | Distal (>10kb) Multiome | 691 | |
| chr1:45,216,712–45,217,234 | 204.8 kb | Distal (>10kb) Multiome HiCAR | 42 | |
| chr1:45,303,203–45,304,881 | 291.6 kb | Distal (>10kb) Multiome HiCAR | 1034 | |
| chr1:45,315,837–45,316,870 | 303.9 kb | Distal (>10kb) Multiome HiCAR | 113 | |
| chr1:45,317,165–45,317,643 | 305.2 kb | Distal (>10kb) Multiome HiCAR | 7 | |
| chr1:45,321,623–45,322,180 | 309.5 kb | Distal (>10kb) Multiome HiCAR | 54 | |
| chr1:45,326,327–45,328,092 | 314.7 kb | Distal (>10kb) Multiome HiCAR | 382 | |
| chr1:45,339,505–45,340,694 | 327.9 kb | Distal (>10kb) Multiome HiCAR | 951 | |
| chr1:45,490,605–45,491,773 | 479.1 kb | Distal (>10kb) Multiome HiCAR | 900 | |
| chr1:45,499,499–45,500,620 | 487.9 kb | Distal (>10kb) Multiome HiCAR | 831 |
Genomic view of the UROD 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.