The protein encoded by this gene is a possible transcriptional regulator involved in retinal development. Defects in this gene can be a cause of autosomal-recessive retinitis pigmentosa. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
Transcription factors with Perturb-seq knockdown data for ZNF513. 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 = ZNF513 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 ZNF513, 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 |
|---|---|---|---|---|
| chr2:27,081,006–27,081,641 | 299.4 kb | Distal (>10kb) Multiome | 758 | |
| chr2:27,085,591–27,087,452 | 294.2 kb | Distal (>10kb) Multiome | 970 | |
| chr2:27,123,498–27,124,089 | 257.0 kb | Distal (>10kb) Multiome | 553 | |
| chr2:27,133,917–27,135,216 | 246.1 kb | Distal (>10kb) Multiome | 815 | |
| chr2:27,211,255–27,212,840 | 168.7 kb | Distal (>10kb) Multiome | 978 | |
| chr2:27,217,045–27,218,005 | 163.4 kb | Distal (>10kb) Multiome | 771 | |
| chr2:27,250,040–27,250,883 | 130.4 kb | Distal (>10kb) Multiome | 559 | |
| chr2:27,262,260–27,263,337 | 117.9 kb | Distal (>10kb) Multiome | 376 | |
| chr2:27,264,406–27,265,326 | 115.7 kb | Distal (>10kb) Multiome | 696 | |
| chr2:27,306,488–27,307,261 | 74.1 kb | Distal (>10kb) Multiome | 115 | |
| chr2:27,322,773–27,323,423 | 57.7 kb | Distal (>10kb) Multiome | 906 | |
| chr2:27,356,094–27,357,596 | 23.8 kb | Distal (>10kb) Multiome | 1084 | |
| chr2:27,369,685–27,371,261 | 10.4 kb | Distal (>10kb) Multiome | 1096 | |
| chr2:27,380,026–27,381,202 | 7 bp | At TSS Multiome | 821 | |
| chr2:27,408,972–27,410,056 | 28.9 kb | Distal (>10kb) Multiome | 989 | |
| chr2:27,428,202–27,429,633 | 47.9 kb | Distal (>10kb) Multiome | 1013 | |
| chr2:27,441,811–27,442,884 | 61.6 kb | Distal (>10kb) Multiome | 380 | |
| chr2:27,489,334–27,490,205 | 109.0 kb | Distal (>10kb) Multiome | 731 | |
| chr2:27,494,797–27,495,577 | 114.4 kb | Distal (>10kb) Multiome | 380 | |
| chr2:27,517,085–27,517,958 | 136.8 kb | Distal (>10kb) Multiome | 130 | |
| chr2:27,582,572–27,583,317 | 202.2 kb | Distal (>10kb) Multiome | 843 | |
| chr2:27,628,534–27,629,380 | 248.2 kb | Distal (>10kb) Multiome | 828 | |
| chr2:27,663,338–27,664,216 | 282.9 kb | Distal (>10kb) Multiome | 1035 |
Genomic view of the ZNF513 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.