This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment anomalies. A similar protein in mice can act as a transcriptional activator. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2013]
Transcription factors with Perturb-seq knockdown data for EYA1. 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 = EYA1 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 EYA1, 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 |
|---|---|---|---|---|
| chr8:71,361,530–71,362,424 | 230.1 kb | Distal (>10kb) Multiome | 429 | |
| chr8:71,520,075–71,520,986 | 71.5 kb | Distal (>10kb) Multiome | 257 | |
| chr8:71,547,135–71,548,410 | 44.3 kb | Distal (>10kb) Multiome | 321 | |
| chr8:71,548,741–71,549,254 | 554 bp | At TSS | 27 | |
| chr8:71,553,979–71,554,716 | 5.8 kb | Proximal (<10kb) | 154 | |
| chr8:71,556,010–71,558,935 | 7.8 kb | Proximal (<10kb) | 249 | |
| chr8:71,651,940–71,652,569 | 60.1 kb | Distal (>10kb) Multiome | 151 | |
| chr8:71,671,847–71,672,784 | 80.3 kb | Distal (>10kb) Multiome | 123 | |
| chr8:71,674,695–71,676,017 | 83.2 kb | Distal (>10kb) Multiome | 64 | |
| chr8:71,687,309–71,688,683 | 96.2 kb | Distal (>10kb) Multiome | 165 | |
| chr8:71,706,258–71,707,055 | 114.7 kb | Distal (>10kb) Multiome | 124 | |
| chr8:71,715,807–71,716,840 | 124.4 kb | Distal (>10kb) Multiome | 170 | |
| chr8:71,841,631–71,842,524 | 250.0 kb | Distal (>10kb) Multiome | 218 | |
| chr8:71,843,237–71,844,888 | 252.0 kb | Distal (>10kb) Multiome | 479 |
Genomic view of the EYA1 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.