NEPH1 is a member of the nephrin-like protein family, which includes NEPH2 (MIM 607761) and NEPH3 (MIM 607762). The cytoplasmic domains of these proteins interact with the C terminus of podocin (NPHS2; MIM 604766), and the genes are expressed in kidney podocytes, cells involved in ensuring size- and charge-selective ultrafiltration (Sellin et al., 2003 [PubMed 12424224]).[supplied by OMIM, Mar 2008]
Transcription factors with Perturb-seq knockdown data for KIRREL1. 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 = KIRREL1 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 KIRREL1, 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 |
|---|---|---|---|---|
| chr1:157,978,664–157,979,507 | 14.5 kb | Distal (>10kb) Multiome | 166 | |
| chr1:157,992,017–157,992,662 | 981 bp | At TSS | 202 | |
| chr1:157,992,976–157,994,637 | 1 bp | At TSS Multiome | 333 | |
| chr1:158,113,137–158,114,026 | 120.0 kb | Distal (>10kb) Multiome HiCAR | 328 | |
| chr1:158,149,364–158,150,151 | 156.2 kb | Distal (>10kb) Multiome | 421 | |
| chr1:158,177,403–158,178,263 | 184.3 kb | Distal (>10kb) Multiome | 195 | |
| chr1:158,180,618–158,181,838 | 187.6 kb | Distal (>10kb) Multiome | 321 | |
| chr1:158,999,415–159,000,347 | 1006.2 kb | Distal (>10kb) Multiome HiCAR | 267 | |
| chr1:159,005,384–159,006,879 | 1012.4 kb | Distal (>10kb) Multiome HiCAR | 342 | |
| chr1:159,853,905–159,855,297 | 1861.0 kb | Distal (>10kb) Multiome HiCAR | 474 | |
| chr1:159,899,910–159,900,706 | 1906.7 kb | Distal (>10kb) Multiome HiCAR | 349 |
Genomic view of the KIRREL1 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.