This gene encodes a protein containing a C3HC4-type RING finger domain, which is a specialized type of Zn-finger that binds two atoms of zinc and is thought to be involved in mediating protein-protein interactions. The protein also contains an AAA domain, which is associated with ATPase activity. This gene is a susceptibility gene for Moyamoya disease, a vascular disorder of intracranial arteries. This gene is also a translocation partner in anaplastic large cell lymphoma and inflammatory myofibroblastic tumor cases, where a t(2;17)(p23;q25) translocation has been identified with the anaplastic lymphoma kinase (ALK) gene on chromosome 2, and a t(8;17)(q24;q25) translocation has been identified with the MYC gene on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]
Transcription factors with Perturb-seq knockdown data for RNF213. 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 = RNF213 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 RNF213, 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 |
|---|---|---|---|---|
| chr17:79,991,451–79,992,302 | 269.1 kb | Distal (>10kb) Multiome | 655 | |
| chr17:80,008,356–80,008,965 | 252.2 kb | Distal (>10kb) Multiome | 554 | |
| chr17:80,035,332–80,037,314 | 223.9 kb | Distal (>10kb) Multiome | 852 | |
| chr17:80,101,092–80,102,236 | 159.4 kb | Distal (>10kb) Multiome | 851 | |
| chr17:80,146,527–80,148,008 | 113.6 kb | Distal (>10kb) Multiome | 955 | |
| chr17:80,219,620–80,221,064 | 40.4 kb | Distal (>10kb) Multiome | 809 | |
| chr17:80,260,016–80,260,559 | 513 bp | At TSS Multiome | 677 | |
| chr17:80,260,789–80,261,746 | 688 bp | At TSS Multiome | 896 | |
| chr17:80,308,064–80,309,516 | 47.5 kb | Distal (>10kb) Multiome | 193 | |
| chr17:80,376,366–80,377,013 | 115.8 kb | Distal (>10kb) Multiome | 75 | |
| chr17:80,407,766–80,408,220 | 147.1 kb | Distal (>10kb) Multiome | 12 | |
| chr17:80,414,488–80,415,786 | 154.4 kb | Distal (>10kb) Multiome | 964 | |
| chr17:80,426,748–80,427,205 | 166.2 kb | Distal (>10kb) Multiome | 529 | |
| chr17:80,454,454–80,455,448 | 194.0 kb | Distal (>10kb) Multiome | 1002 | |
| chr17:80,475,705–80,477,431 | 215.7 kb | Distal (>10kb) Multiome | 345 | |
| chr17:80,477,689–80,478,296 | 217.4 kb | Distal (>10kb) Multiome | 240 | |
| chr17:80,544,698–80,545,445 | 284.0 kb | Distal (>10kb) Multiome | 934 |
Genomic view of the RNF213 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.