The protein encoded by this gene is a tumor-rejection antigen. It is localized to the endoplasmic reticulum and functions to convert D-glucuronic acid to L-iduronic acid during the biosynthesis of dermatan sulfate. This antigen possesses tumor epitopes capable of inducing HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes in cancer patients and may be useful for specific immunotherapy. Mutations in this gene cause inmusculocontractural Ehlers-Danlos syndrome. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 9, and a paralogous gene exists on chromosome 18. [provided by RefSeq, Apr 2016]
Transcription factors with Perturb-seq knockdown data for DSE. 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 = DSE 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 DSE, 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 |
|---|---|---|---|---|
| chr6:116,100,248–116,101,958 | 153.3 kb | Distal (>10kb) Multiome | 1010 | |
| chr6:116,145,874–116,146,681 | 107.9 kb | Distal (>10kb) Multiome | 187 | |
| chr6:116,229,156–116,229,872 | 24.7 kb | Distal (>10kb) Multiome | 151 | |
| chr6:116,253,243–116,254,510 | 105 bp | At TSS Multiome | 816 | |
| chr6:116,279,028–116,280,325 | 25.7 kb | Distal (>10kb) Multiome | 994 | |
| chr6:116,370,005–116,371,990 | 116.8 kb | Distal (>10kb) Multiome | 655 | |
| chr6:116,461,655–116,462,775 | 208.1 kb | Distal (>10kb) Multiome | 421 | |
| chr6:116,570,743–116,571,945 | 317.1 kb | Distal (>10kb) Multiome | 1041 | |
| chr6:116,615,808–116,617,150 | 362.2 kb | Distal (>10kb) Multiome | 493 | |
| chr6:116,668,238–116,668,984 | 414.5 kb | Distal (>10kb) Multiome | 746 |
Genomic view of the DSE 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.