This gene, originally isolated from testis, is also expressed in retina. Mutations in this gene are associated with Leber congenital amaurosis and juvenile retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
Transcription factors with Perturb-seq knockdown data for SPATA7. 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 = SPATA7 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 SPATA7, 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 |
|---|---|---|---|---|
| chr14:87,992,111–87,993,737 | 392.6 kb | Distal (>10kb) Multiome HiCAR | 641 | |
| chr14:88,024,347–88,025,383 | 360.9 kb | Distal (>10kb) Multiome HiCAR | 449 | |
| chr14:88,155,901–88,157,142 | 228.9 kb | Distal (>10kb) Multiome HiCAR | 139 | |
| chr14:88,322,020–88,324,446 | 62.1 kb | Distal (>10kb) Multiome | 373 | |
| chr14:88,364,579–88,365,430 | 20.8 kb | Distal (>10kb) Multiome | 118 | |
| chr14:88,379,835–88,380,649 | 5.1 kb | Proximal (<10kb) | 78 | |
| chr14:88,385,143–88,386,368 | 61 bp | At TSS Multiome | 743 | |
| chr14:88,551,095–88,552,499 | 165.8 kb | Distal (>10kb) Multiome | 512 | |
| chr14:88,554,467–88,555,337 | 169.1 kb | Distal (>10kb) Multiome | 594 | |
| chr14:88,562,461–88,563,844 | 177.4 kb | Distal (>10kb) Multiome | 904 | |
| chr14:88,682,305–88,683,364 | 297.0 kb | Distal (>10kb) Multiome | 210 |
Genomic view of the SPATA7 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.