This gene encodes one of several proteins that are critical in the development of the neuromuscular junction (NMJ), as identified in mouse knock-out studies. The encoded protein contains several laminin G, Kazal type serine protease inhibitor, and epidermal growth factor domains. Additional post-translational modifications occur to add glycosaminoglycans and disulfide bonds. In one family with congenital myasthenic syndrome affecting limb-girdle muscles, a mutation in this gene was found. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]
Transcription factors with Perturb-seq knockdown data for AGRN. 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 = AGRN 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 AGRN, 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 |
|---|---|---|---|---|
| chr1:904,256–904,920 | 115.4 kb | Distal (>10kb) Multiome | 590 | |
| chr1:923,612–925,339 | 96.2 kb | Distal (>10kb) Multiome | 500 | |
| chr1:939,835–943,080 | 78.2 kb | Distal (>10kb) Multiome | 864 | |
| chr1:959,035–960,017 | 60.8 kb | Distal (>10kb) Multiome | 622 | |
| chr1:960,291–961,429 | 59.4 kb | Distal (>10kb) Multiome | 552 | |
| chr1:975,960–976,521 | 43.9 kb | Distal (>10kb) Multiome | 476 | |
| chr1:998,350–1,000,999 | 19.8 kb | Distal (>10kb) Multiome | 1047 | |
| chr1:1,001,349–1,002,099 | 18.1 kb | Distal (>10kb) Multiome | 646 | |
| chr1:1,005,015–1,005,702 | 14.9 kb | Distal (>10kb) Multiome | 532 | |
| chr1:1,013,320–1,013,976 | 6.1 kb | Proximal (<10kb) | 644 | |
| chr1:1,019,142–1,021,414 | 511 bp | At TSS Multiome | 707 | |
| chr1:1,024,680–1,024,993 | 4.6 kb | Proximal (<10kb) | 250 | |
| chr1:1,032,438–1,034,753 | 13.1 kb | Distal (>10kb) Multiome | 475 | |
| chr1:1,040,071–1,041,597 | 20.8 kb | Distal (>10kb) Multiome | 410 | |
| chr1:1,058,856–1,060,114 | 39.4 kb | Distal (>10kb) Multiome | 609 | |
| chr1:1,068,556–1,069,991 | 49.1 kb | Distal (>10kb) Multiome | 577 | |
| chr1:1,079,478–1,080,558 | 59.9 kb | Distal (>10kb) Multiome | 746 | |
| chr1:1,115,769–1,117,022 | 96.1 kb | Distal (>10kb) Multiome | 743 | |
| chr1:1,157,424–1,158,362 | 137.5 kb | Distal (>10kb) Multiome | 575 | |
| chr1:1,200,907–1,201,739 | 181.3 kb | Distal (>10kb) Multiome | 430 | |
| chr1:1,231,448–1,233,390 | 212.0 kb | Distal (>10kb) Multiome | 884 | |
| chr1:1,273,333–1,274,645 | 253.8 kb | Distal (>10kb) Multiome | 779 | |
| chr1:1,293,434–1,294,454 | 273.8 kb | Distal (>10kb) Multiome | 234 | |
| chr1:1,307,375–1,310,219 | 288.2 kb | Distal (>10kb) Multiome | 897 |
Genomic view of the AGRN 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.