This gene encodes a protein that contains several helicase family domains. Mutations in this gene have been found in some patients with the CHARGE syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
Transcription factors with Perturb-seq knockdown data for CHD7. 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 = CHD7 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 CHD7, 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 |
|---|---|---|---|---|
| chr8:60,396,070–60,396,507 | 282.4 kb | Distal (>10kb) Multiome | 124 | |
| chr8:60,516,295–60,517,716 | 161.8 kb | Distal (>10kb) Multiome | 833 | |
| chr8:60,575,730–60,576,435 | 102.7 kb | Distal (>10kb) Multiome | 231 | |
| chr8:60,651,471–60,652,894 | 26.5 kb | Distal (>10kb) Multiome | 899 | |
| chr8:60,653,001–60,654,152 | 25.0 kb | Distal (>10kb) Multiome | 520 | |
| chr8:60,672,538–60,672,748 | 6.0 kb | Proximal (<10kb) | 38 | |
| chr8:60,676,007–60,676,774 | 2.6 kb | Proximal (<10kb) Multiome | 159 | |
| chr8:60,678,041–60,680,775 | 120 bp | At TSS Multiome | 761 | |
| chr8:60,908,610–60,909,299 | 230.2 kb | Distal (>10kb) Multiome | 412 | |
| chr8:60,921,758–60,923,631 | 244.2 kb | Distal (>10kb) Multiome | 345 | |
| chr8:61,077,575–61,078,562 | 399.3 kb | Distal (>10kb) Multiome HiCAR | 351 |
Genomic view of the CHD7 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.