This gene encodes a protein containing tetratricopeptide repeat and a U-box that functions as a ubiquitin ligase/cochaperone. The encoded protein binds to and ubiquitinates shock cognate 71 kDa protein (Hspa8) and DNA polymerase beta (Polb), among other targets. Mutations in this gene cause spinocerebellar ataxia, autosomal recessive 16. Alternative splicing results in multiple transcript variants. There is a pseudogene for this gene on chromosome 2. [provided by RefSeq, Jun 2014]
Transcription factors with Perturb-seq knockdown data for STUB1. 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 = STUB1 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 STUB1, 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 |
|---|---|---|---|---|
| chr16:380,836–382,614 | 298.4 kb | Distal (>10kb) Multiome | 634 | |
| chr16:383,438–384,218 | 296.6 kb | Distal (>10kb) Multiome | 342 | |
| chr16:396,893–397,640 | 282.9 kb | Distal (>10kb) Multiome | 496 | |
| chr16:401,380–402,199 | 278.6 kb | Distal (>10kb) Multiome | 818 | |
| chr16:424,888–426,136 | 254.8 kb | Distal (>10kb) Multiome | 752 | |
| chr16:483,333–484,000 | 196.7 kb | Distal (>10kb) Multiome | 143 | |
| chr16:526,749–528,601 | 152.8 kb | Distal (>10kb) Multiome | 811 | |
| chr16:569,530–570,338 | 110.6 kb | Distal (>10kb) Multiome | 492 | |
| chr16:578,896–579,353 | 101.3 kb | Distal (>10kb) Multiome | 511 | |
| chr16:588,593–590,724 | 90.5 kb | Distal (>10kb) Multiome | 853 | |
| chr16:635,900–638,127 | 44.1 kb | Distal (>10kb) Multiome | 1021 | |
| chr16:641,491–643,007 | 38.5 kb | Distal (>10kb) Multiome | 856 | |
| chr16:648,795–649,829 | 31.1 kb | Distal (>10kb) Multiome | 862 | |
| chr16:660,457–661,656 | 19.5 kb | Distal (>10kb) Multiome | 456 | |
| chr16:667,633–668,442 | 12.4 kb | Distal (>10kb) Multiome | 838 | |
| chr16:678,847–681,585 | 379 bp | At TSS Multiome | 803 | |
| chr16:683,618–684,859 | 4.0 kb | Proximal (<10kb) Multiome | 701 | |
| chr16:690,350–690,560 | 9.9 kb | Proximal (<10kb) | 852 | |
| chr16:694,897–695,485 | 15.0 kb | Distal (>10kb) Multiome | 390 | |
| chr16:705,242–706,468 | 25.6 kb | Distal (>10kb) Multiome | 248 | |
| chr16:714,577–716,048 | 34.7 kb | Distal (>10kb) Multiome | 555 | |
| chr16:720,434–721,963 | 41.0 kb | Distal (>10kb) Multiome | 966 | |
| chr16:726,310–729,144 | 46.6 kb | Distal (>10kb) Multiome | 736 | |
| chr16:740,359–741,596 | 60.7 kb | Distal (>10kb) Multiome | 897 | |
| chr16:787,564–789,160 | 108.1 kb | Distal (>10kb) Multiome | 635 | |
| chr16:807,352–808,044 | 127.4 kb | Distal (>10kb) Multiome | 600 | |
| chr16:813,330–813,960 | 133.4 kb | Distal (>10kb) Multiome | 325 | |
| chr16:970,016–971,733 | 290.6 kb | Distal (>10kb) Multiome | 800 |
Genomic view of the STUB1 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.