This gene encodes a transmembrane protein that contains multiple epidermal growth factor repeats that functions as a regulator of cell growth. The encoded protein is involved in the differentiation of several cell types including adipocytes. This gene is located in a region of chromosome 14 frequently showing unparental disomy, and is imprinted and expressed from the paternal allele. A single nucleotide variant in this gene is associated with child and adolescent obesity and shows polar overdominance, where heterozygotes carrying an active paternal allele express the phenotype, while mutant homozygotes are normal. [provided by RefSeq, Nov 2015]
Transcription factors with Perturb-seq knockdown data for DLK1. 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 = DLK1 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 DLK1, 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 |
|---|---|---|---|---|
| chr14:100,546,059–100,547,136 | 180.4 kb | Distal (>10kb) Multiome | 334 | |
| chr14:100,672,913–100,673,654 | 53.6 kb | Distal (>10kb) Multiome | 432 | |
| chr14:100,708,398–100,709,017 | 18.3 kb | Distal (>10kb) Multiome | 229 | |
| chr14:100,726,581–100,727,306 | 13 bp | At TSS Multiome | 303 | |
| chr14:100,830,747–100,832,118 | 103.9 kb | Distal (>10kb) Multiome | 99 | |
| chr14:100,832,252–100,832,872 | 105.5 kb | Distal (>10kb) Multiome | 73 | |
| chr14:100,904,412–100,905,040 | 177.7 kb | Distal (>10kb) Multiome HiCAR | 121 | |
| chr14:101,688,293–101,688,782 | 961.7 kb | Distal (>10kb) Multiome HiCAR | 137 |
Genomic view of the DLK1 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.