This gene is a member of the WD40 repeat-containing gene family and shares sequence similarity with transducin (beta)-like 1X-linked (TBL1X). The protein encoded by this gene is thought to be a component of both nuclear receptor corepressor (N-CoR) and histone deacetylase 3 (HDAC 3) complexes, and is required for transcriptional activation by a variety of transcription factors. Mutations in these gene have been associated with some autism spectrum disorders, and one finding suggests that haploinsufficiency of this gene may be a cause of intellectual disability with dysmorphism. Mutations in this gene as well as recurrent translocations involving this gene have also been observed in some tumors. [provided by RefSeq, Mar 2016]
Transcription factors with Perturb-seq knockdown data for TBL1XR1. 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 = TBL1XR1 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 TBL1XR1, 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 |
|---|---|---|---|---|
| chr3:176,759,350–176,760,668 | 437.1 kb | Distal (>10kb) Multiome | 207 | |
| chr3:176,988,787–176,989,317 | 208.2 kb | Distal (>10kb) Multiome | 94 | |
| chr3:177,196,281–177,198,358 | 379 bp | At TSS Multiome | 789 | |
| chr3:177,198,853–177,199,164 | 2.4 kb | Proximal (<10kb) | 219 | |
| chr3:177,230,597–177,231,187 | 33.6 kb | Distal (>10kb) Multiome | 61 | |
| chr3:177,277,665–177,278,474 | 80.9 kb | Distal (>10kb) Multiome | 157 | |
| chr3:177,283,887–177,285,110 | 87.3 kb | Distal (>10kb) Multiome | 481 | |
| chr3:177,294,966–177,296,002 | 98.2 kb | Distal (>10kb) Multiome HiCAR | 132 | |
| chr3:177,356,889–177,357,798 | 160.1 kb | Distal (>10kb) Multiome HiCAR | 500 | |
| chr3:177,357,900–177,360,664 | 162.8 kb | Distal (>10kb) Multiome HiCAR | 1243 | |
| chr3:178,211,520–178,212,768 | 1015.0 kb | Distal (>10kb) Multiome HiCAR | 96 |
Genomic view of the TBL1XR1 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.