The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and testis. Mutations in this gene are associated with Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes. [provided by RefSeq, Jan 2010]
Transcription factors with Perturb-seq knockdown data for RECQL4. 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 = RECQL4 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 RECQL4, 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 |
|---|---|---|---|---|
| chr8:144,266,293–144,267,098 | 251.3 kb | Distal (>10kb) Multiome | 162 | |
| chr8:144,290,981–144,292,410 | 226.3 kb | Distal (>10kb) Multiome | 716 | |
| chr8:144,315,833–144,316,450 | 201.7 kb | Distal (>10kb) Multiome | 396 | |
| chr8:144,325,768–144,327,719 | 190.9 kb | Distal (>10kb) Multiome | 1016 | |
| chr8:144,331,281–144,333,847 | 185.8 kb | Distal (>10kb) Multiome | 406 | |
| chr8:144,336,102–144,339,119 | 180.9 kb | Distal (>10kb) Multiome | 922 | |
| chr8:144,353,907–144,355,227 | 163.3 kb | Distal (>10kb) Multiome | 280 | |
| chr8:144,358,142–144,359,070 | 159.3 kb | Distal (>10kb) Multiome | 719 | |
| chr8:144,369,349–144,369,916 | 148.1 kb | Distal (>10kb) Multiome | 204 | |
| chr8:144,372,497–144,372,883 | 145.1 kb | Distal (>10kb) Multiome | 160 | |
| chr8:144,372,993–144,375,084 | 143.9 kb | Distal (>10kb) Multiome | 903 | |
| chr8:144,408,968–144,410,189 | 108.4 kb | Distal (>10kb) Multiome | 920 | |
| chr8:144,427,691–144,429,571 | 89.2 kb | Distal (>10kb) Multiome | 1000 | |
| chr8:144,443,691–144,445,047 | 73.5 kb | Distal (>10kb) Multiome | 743 | |
| chr8:144,462,568–144,463,422 | 54.9 kb | Distal (>10kb) Multiome HiCAR | 548 | |
| chr8:144,463,885–144,468,178 | 52.1 kb | Distal (>10kb) Multiome HiCAR | 910 | |
| chr8:144,471,960–144,474,391 | 45.3 kb | Distal (>10kb) Multiome HiCAR | 482 | |
| chr8:144,474,517–144,476,543 | 42.0 kb | Distal (>10kb) Multiome HiCAR | 321 | |
| chr8:144,477,277–144,478,749 | 39.8 kb | Distal (>10kb) Multiome HiCAR | 679 | |
| chr8:144,478,851–144,479,509 | 38.5 kb | Distal (>10kb) Multiome HiCAR | 392 | |
| chr8:144,483,979–144,484,843 | 33.5 kb | Distal (>10kb) Multiome | 125 | |
| chr8:144,495,748–144,496,431 | 21.7 kb | Distal (>10kb) Multiome | 131 | |
| chr8:144,500,182–144,501,505 | 16.8 kb | Distal (>10kb) Multiome | 484 | |
| chr8:144,507,995–144,510,268 | 9.0 kb | Proximal (<10kb) Multiome | 1067 | |
| chr8:144,512,021–144,512,229 | 5.6 kb | Proximal (<10kb) | 89 | |
| chr8:144,517,168–144,518,442 | 71 bp | At TSS Multiome | 637 | |
| chr8:144,521,935–144,523,450 | 4.7 kb | Proximal (<10kb) Multiome | 663 | |
| chr8:144,524,105–144,525,099 | 6.8 kb | Proximal (<10kb) Multiome | 264 | |
| chr8:144,526,399–144,529,305 | 9.2 kb | Proximal (<10kb) Multiome | 934 | |
| chr8:144,529,455–144,530,630 | 12.3 kb | Distal (>10kb) Multiome | 284 | |
| chr8:144,580,290–144,581,657 | 62.9 kb | Distal (>10kb) Multiome | 271 | |
| chr8:144,672,507–144,672,989 | 155.0 kb | Distal (>10kb) Multiome | 150 | |
| chr8:144,684,108–144,686,340 | 166.6 kb | Distal (>10kb) Multiome | 862 | |
| chr8:144,755,078–144,755,956 | 237.8 kb | Distal (>10kb) Multiome | 769 | |
| chr8:144,785,987–144,788,592 | 269.3 kb | Distal (>10kb) Multiome | 997 | |
| chr8:144,791,751–144,793,221 | 274.6 kb | Distal (>10kb) Multiome HiCAR | 899 | |
| chr8:144,798,389–144,799,501 | 281.1 kb | Distal (>10kb) Multiome HiCAR | 832 |
Genomic view of the RECQL4 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.