This gene encodes a phosphoprotein containing six characteristic repeat motifs. The encoded protein binds to the initiator element (Inr) and E-box element in promoters and functions as a regulator of transcription. This locus, along with several other neighboring genes, is deleted in Williams-Beuren syndrome. There are many closely related genes and pseudogenes for this gene on chromosome 7. This gene also has pseudogenes on chromosomes 9, 13, and 21. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2013]
Transcription factors with Perturb-seq knockdown data for GTF2I. 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 = GTF2I 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 GTF2I, 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 |
|---|---|---|---|---|
| chr7:74,371,455–74,372,279 | 285.8 kb | Distal (>10kb) Multiome | 234 | |
| chr7:74,453,330–74,454,656 | 203.9 kb | Distal (>10kb) Multiome | 596 | |
| chr7:74,584,517–74,585,057 | 73.1 kb | Distal (>10kb) Multiome | 270 | |
| chr7:74,656,570–74,659,496 | 898 bp | At TSS Multiome | 997 | |
| chr7:74,659,642–74,660,062 | 1.9 kb | Proximal (<10kb) | 260 | |
| chr7:74,661,062–74,661,259 | 3.3 kb | Proximal (<10kb) | 399 |
Genomic view of the GTF2I 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.