This gene encodes a protein that activates the nuclear factor kappa B (NFKB1) signaling pathway. Mutations in this gene are associated with autosomal recessive distal spinal muscular atrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
Transcription factors with Perturb-seq knockdown data for PLEKHG5. 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 = PLEKHG5 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 PLEKHG5, 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 |
|---|---|---|---|---|
| chr1:6,199,148–6,200,364 | 297.7 kb | Distal (>10kb) Multiome | 992 | |
| chr1:6,204,893–6,206,690 | 292.2 kb | Distal (>10kb) Multiome | 913 | |
| chr1:6,208,737–6,209,635 | 288.1 kb | Distal (>10kb) Multiome | 362 | |
| chr1:6,235,160–6,236,710 | 261.4 kb | Distal (>10kb) Multiome | 673 | |
| chr1:6,241,773–6,242,771 | 255.2 kb | Distal (>10kb) Multiome | 241 | |
| chr1:6,244,532–6,247,144 | 251.4 kb | Distal (>10kb) Multiome | 1073 | |
| chr1:6,248,779–6,250,153 | 247.9 kb | Distal (>10kb) Multiome | 287 | |
| chr1:6,259,688–6,261,954 | 237.3 kb | Distal (>10kb) Multiome | 550 | |
| chr1:6,392,724–6,394,325 | 103.8 kb | Distal (>10kb) Multiome | 819 | |
| chr1:6,418,998–6,420,339 | 77.6 kb | Distal (>10kb) Multiome | 335 | |
| chr1:6,440,165–6,441,114 | 56.8 kb | Distal (>10kb) Multiome | 215 | |
| chr1:6,446,981–6,449,427 | 50.3 kb | Distal (>10kb) Multiome | 665 | |
| chr1:6,455,053–6,455,773 | 42.1 kb | Distal (>10kb) Multiome | 105 | |
| chr1:6,470,716–6,471,189 | 26.5 kb | Distal (>10kb) Multiome | 148 | |
| chr1:6,471,308–6,471,972 | 25.8 kb | Distal (>10kb) Multiome | 192 | |
| chr1:6,475,592–6,475,800 | 9.7 kb | Proximal (<10kb) | 288 | |
| chr1:6,484,959–6,485,762 | at TSS | At TSS | 144 | |
| chr1:6,486,194–6,486,953 | 10.8 kb | Distal (>10kb) Multiome | 416 | |
| chr1:6,489,772–6,491,050 | 7.3 kb | Proximal (<10kb) Multiome | 676 | |
| chr1:6,497,162–6,497,841 | 96 bp | At TSS Multiome | 324 | |
| chr1:6,554,053–6,554,774 | 57.1 kb | Distal (>10kb) Multiome | 897 | |
| chr1:6,579,406–6,580,453 | 82.5 kb | Distal (>10kb) Multiome | 684 | |
| chr1:6,601,460–6,604,144 | 105.5 kb | Distal (>10kb) Multiome | 1062 | |
| chr1:6,612,539–6,615,225 | 116.1 kb | Distal (>10kb) Multiome | 806 | |
| chr1:6,624,591–6,625,845 | 127.8 kb | Distal (>10kb) Multiome | 730 | |
| chr1:6,701,304–6,702,223 | 204.5 kb | Distal (>10kb) Multiome | 1025 | |
| chr1:6,784,205–6,786,365 | 287.7 kb | Distal (>10kb) Multiome | 950 |
Genomic view of the PLEKHG5 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.