The products of this gene play important roles both in embryonic development and as a modulator of the innate immune responses and inflammation. This gene encodes an extracellular matrix protein that is restricted to the dermis. It is secreted and forms complexes with FREM2 and FRAS1 gene products and is required to maintain epidermal adhesion during embryonic development. Pathogenic mutations in this gene have been implicated in Manitoba oculotrichoanal (MOTA) syndrome, bifid nose with or without anorectal and renal anomalies (BNAR syndrome), and congenital diaphragmatic hernia (CDH). A 715 aa isoform of this gene known as TILRR (Toll-like interleukin-receptor regulator) is expressed from an alternate promoter and is involved in controlling the inflammatory process. The encoded protein is a cell surface proteoglycan that is a co-receptor for IL-1 receptor type I (IL1RI). TILRR increases IL1R1 expression levels and regulates receptor function, leading to amplified activation of NF-kappaB and inflammatory responses. [provided by RefSeq, Apr 2026]
Transcription factors with Perturb-seq knockdown data for FREM1. 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 = FREM1 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 FREM1, 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 |
|---|---|---|---|---|
| chr9:14,692,495–14,694,738 | 217.0 kb | Distal (>10kb) Multiome | 739 | |
| chr9:14,707,894–14,718,960 | 194.3 kb | Distal (>10kb) Multiome | 491 | |
| chr9:14,722,051–14,724,133 | 187.5 kb | Distal (>10kb) Multiome | 397 | |
| chr9:14,746,175–14,747,463 | 163.3 kb | Distal (>10kb) Multiome | 117 | |
| chr9:14,752,089–14,753,309 | 157.8 kb | Distal (>10kb) Multiome | 147 | |
| chr9:14,906,725–14,907,004 | 3.4 kb | Proximal (<10kb) | 92 | |
| chr9:14,907,154–14,907,647 | 2.8 kb | Proximal (<10kb) | 121 | |
| chr9:14,908,720–14,909,125 | 1.3 kb | Proximal (<10kb) | 143 | |
| chr9:14,909,925–14,910,721 | 133 bp | At TSS Multiome | 428 | |
| chr9:14,992,603–14,993,831 | 82.9 kb | Distal (>10kb) Multiome | 390 | |
| chr9:15,137,894–15,138,779 | 228.0 kb | Distal (>10kb) Multiome | 126 |
Genomic view of the FREM1 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.