This gene encodes a member of the TBC-domain containing protein family. The encoded protein functions as a subunit of the tuberous sclerosis TSC1-TSC2 complex which plays a role in the regulation of cellular growth and differentiation. Mutations in this gene have been associated with autosomal recessive megalencephaly. Alternative splicing results in multiple transcript variants. Naturally occurring readthrough transcription occurs between this locus and downstream LOC100130357. [provided by RefSeq, Jan 2016]
Transcription factors with Perturb-seq knockdown data for TBC1D7. 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 = TBC1D7 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 TBC1D7, 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 |
|---|---|---|---|---|
| chr6:13,328,084–13,329,043 | 28 bp | At TSS Multiome | 848 | |
| chr6:13,336,560–13,336,984 | 8.0 kb | Proximal (<10kb) | 284 | |
| chr6:13,422,574–13,423,098 | 94.3 kb | Distal (>10kb) Multiome | 180 | |
| chr6:13,485,963–13,488,715 | 159.2 kb | Distal (>10kb) Multiome | 753 | |
| chr6:13,532,018–13,532,632 | 203.7 kb | Distal (>10kb) Multiome | 66 | |
| chr6:13,573,806–13,575,472 | 245.9 kb | Distal (>10kb) Multiome HiCAR | 1136 | |
| chr6:13,614,519–13,616,157 | 286.8 kb | Distal (>10kb) Multiome HiCAR | 1137 |
Genomic view of the TBC1D7 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.