This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.[provided by RefSeq, Nov 2009]
Transcription factors with Perturb-seq knockdown data for EFEMP1. 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 = EFEMP1 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 EFEMP1, 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 |
|---|---|---|---|---|
| chr2:55,693,163–55,694,032 | 230.0 kb | Distal (>10kb) Multiome | 875 | |
| chr2:55,836,798–55,837,541 | 86.6 kb | Distal (>10kb) Multiome | 153 | |
| chr2:55,922,305–55,924,201 | 49 bp | At TSS Multiome | 491 | |
| chr2:55,926,404–55,926,535 | 2.6 kb | Proximal (<10kb) | 12 | |
| chr2:56,183,413–56,186,197 | 260.1 kb | Distal (>10kb) Multiome | 659 |
Genomic view of the EFEMP1 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.