This gene encodes a protein that contains a N-terminal thrombospondin-type laminin G domain and several tandem arranged epilepsy-associated repeats (EARs). A mutation in this gene is the cause of autosomal recessive deafness-98. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
Transcription factors with Perturb-seq knockdown data for TSPEAR. 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 = TSPEAR 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 TSPEAR, 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 |
|---|---|---|---|---|
| chr21:44,454,821–44,456,545 | 256.3 kb | Distal (>10kb) Multiome | 481 | |
| chr21:44,510,378–44,510,951 | 200.9 kb | Distal (>10kb) Multiome HiCAR | 473 | |
| chr21:44,686,253–44,687,168 | 24.9 kb | Distal (>10kb) Multiome | 199 | |
| chr21:44,704,676–44,705,066 | 6.5 kb | Proximal (<10kb) | 40 | |
| chr21:44,705,468–44,705,929 | 5.6 kb | Proximal (<10kb) | 7 | |
| chr21:44,707,169–44,707,520 | 4.1 kb | Proximal (<10kb) | 44 | |
| chr21:44,711,499–44,711,908 | 171 bp | At TSS Multiome | 168 | |
| chr21:44,748,550–44,748,985 | 37.3 kb | Distal (>10kb) Multiome | 149 | |
| chr21:44,801,527–44,802,290 | 90.3 kb | Distal (>10kb) Multiome | 818 | |
| chr21:44,817,098–44,818,998 | 106.3 kb | Distal (>10kb) Multiome | 775 | |
| chr21:44,845,753–44,846,245 | 134.4 kb | Distal (>10kb) Multiome | 504 | |
| chr21:44,872,991–44,875,251 | 162.2 kb | Distal (>10kb) Multiome | 841 | |
| chr21:44,939,797–44,940,292 | 228.4 kb | Distal (>10kb) Multiome | 1041 |
Genomic view of the TSPEAR 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.