Human echinoderm microtubule-associated protein-like is a strong candidate for the Usher syndrome type 1A gene. Usher syndromes (USHs) are a group of genetic disorders consisting of congenital deafness, retinitis pigmentosa, and vestibular dysfunction of variable onset and severity depending on the genetic type. The disease process in USHs involves the entire brain and is not limited to the posterior fossa or auditory and visual systems. The USHs are catagorized as type I (USH1A, USH1B, USH1C, USH1D, USH1E and USH1F), type II (USH2A and USH2B) and type III (USH3). The type I is the most severe form. Gene loci responsible for these three types are all mapped. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for EML1. 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 = EML1 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 EML1, 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 |
|---|---|---|---|---|
| chr14:99,479,847–99,482,007 | 292.6 kb | Distal (>10kb) Multiome | 803 | |
| chr14:99,580,183–99,580,635 | 193.3 kb | Distal (>10kb) Multiome | 170 | |
| chr14:99,602,979–99,605,771 | 169.3 kb | Distal (>10kb) Multiome | 993 | |
| chr14:99,663,812–99,664,749 | 109.4 kb | Distal (>10kb) Multiome | 215 | |
| chr14:99,682,774–99,684,994 | 90.9 kb | Distal (>10kb) Multiome | 763 | |
| chr14:99,729,847–99,731,033 | 43.4 kb | Distal (>10kb) Multiome | 551 | |
| chr14:99,784,162–99,785,069 | 11.0 kb | Distal (>10kb) Multiome | 291 | |
| chr14:99,792,691–99,793,898 | 19.7 kb | Distal (>10kb) Multiome | 378 | |
| chr14:99,971,046–99,972,540 | 197.8 kb | Distal (>10kb) Multiome | 614 |
Genomic view of the EML1 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.