This gene encodes a protein that may be involved in the presentation of the laminin-binding O-linked carbohydrate chain of alpha-dystroglycan (a-DG), which forms transmembrane linkages between the extracellular matrix and the exoskeleton. Some pathogens use this O-linked carbohydrate unit for host entry. Loss of function compound heterozygous mutations in this gene were found in a human patient affected by the Walker-Warburg syndrome (WWS) phenotype. Mice lacking this gene contain misplaced neurons (heterotopia) in some regions of the brain, possibly from defects in neuronal migration. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
Transcription factors with Perturb-seq knockdown data for POMK. 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 = POMK 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 POMK, 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 |
|---|---|---|---|---|
| chr8:42,831,245–42,833,658 | 261.8 kb | Distal (>10kb) Multiome | 84 | |
| chr8:42,842,552–42,843,812 | 250.3 kb | Distal (>10kb) Multiome | 969 | |
| chr8:42,895,783–42,897,989 | 196.8 kb | Distal (>10kb) Multiome | 792 | |
| chr8:43,055,656–43,057,748 | 37.2 kb | Distal (>10kb) Multiome | 1003 | |
| chr8:43,092,366–43,094,313 | 90 bp | At TSS Multiome | 903 | |
| chr8:43,138,945–43,139,610 | 45.7 kb | Distal (>10kb) Multiome | 219 | |
| chr8:43,139,728–43,142,039 | 48.1 kb | Distal (>10kb) Multiome | 861 |
Genomic view of the POMK 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.