This gene encodes a subunit of a heterotetrameric adapter-like complex 4 that is involved in targeting proteins from the trans-Golgi network to the endosomal-lysosomal system. Mutations in this gene are associated with cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
Transcription factors with Perturb-seq knockdown data for AP4B1. 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 = AP4B1 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 AP4B1, 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 |
|---|---|---|---|---|
| chr1:113,758,781–113,760,075 | 145.6 kb | Distal (>10kb) Multiome | 889 | |
| chr1:113,811,244–113,812,738 | 92.7 kb | Distal (>10kb) Multiome | 978 | |
| chr1:113,904,394–113,905,850 | 81 bp | At TSS Multiome | 1025 | |
| chr1:113,929,054–113,930,528 | 24.5 kb | Distal (>10kb) Multiome | 1003 | |
| chr1:113,978,866–113,979,713 | 74.3 kb | Distal (>10kb) Multiome | 426 | |
| chr1:114,037,114–114,037,804 | 132.2 kb | Distal (>10kb) Multiome | 57 | |
| chr1:114,152,319–114,153,141 | 247.7 kb | Distal (>10kb) Multiome | 229 |
Genomic view of the AP4B1 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.