The protein encoded by this gene is a member of the WD repeat superfamily of proteins, which have regulatory functions. This gene is expressed in many tissue types including several types of eye tissue, and it has been associated with ocular phenotypes. In addition, it is upregulated in cultured cells that overexpress growth factor independence 1B, a transcription factor that is essential for hematopoietic cell development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
Transcription factors with Perturb-seq knockdown data for DMXL1. 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 = DMXL1 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 DMXL1, 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 |
|---|---|---|---|---|
| chr5:118,951,671–118,953,627 | 118.7 kb | Distal (>10kb) Multiome | 243 | |
| chr5:118,987,706–118,989,045 | 82.6 kb | Distal (>10kb) Multiome | 941 | |
| chr5:119,070,182–119,071,897 | 18 bp | At TSS Multiome | 975 | |
| chr5:119,079,337–119,079,900 | 8.3 kb | Proximal (<10kb) | 164 | |
| chr5:119,255,677–119,256,535 | 185.0 kb | Distal (>10kb) Multiome | 184 | |
| chr5:119,267,854–119,269,617 | 197.6 kb | Distal (>10kb) Multiome | 918 | |
| chr5:119,316,153–119,316,863 | 245.4 kb | Distal (>10kb) Multiome | 112 | |
| chr5:119,354,971–119,356,548 | 284.8 kb | Distal (>10kb) Multiome | 521 |
Genomic view of the DMXL1 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.