The protein encoded by this gene is part of a complex that plays a role in maintaining an active pool of phosphatidylinositol 4-kinase (PI4K) at the plasma membrane. This protein is thought to be a peripheral membrane protein that associates with the plasma membrane through palmitoylation. Studies indicate that this gene product plays a role in controlling G protein-coupled receptor (GPCR) activity by affecting receptor phosphorylation. Whole exome sequencing studies have implicated mutations in this gene with autism spectrum disorders. [provided by RefSeq, Apr 2016]
Transcription factors with Perturb-seq knockdown data for EFR3A. 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 = EFR3A 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 EFR3A, 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 |
|---|---|---|---|---|
| chr8:130,688,062–130,688,754 | 1215.6 kb | Distal (>10kb) Multiome HiCAR | 44 | |
| chr8:131,038,908–131,042,700 | 861.9 kb | Distal (>10kb) Multiome HiCAR | 425 | |
| chr8:131,309,248–131,310,724 | 593.9 kb | Distal (>10kb) Multiome HiCAR | 175 | |
| chr8:131,312,327–131,313,567 | 591.1 kb | Distal (>10kb) Multiome HiCAR | 145 | |
| chr8:131,896,508–131,896,710 | 7.4 kb | Proximal (<10kb) | 38 | |
| chr8:131,903,446–131,905,160 | 60 bp | At TSS Multiome | 780 | |
| chr8:131,906,314–131,906,505 | 2.2 kb | Proximal (<10kb) | 37 | |
| chr8:132,140,409–132,141,226 | 236.7 kb | Distal (>10kb) Multiome | 187 |
Genomic view of the EFR3A 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.