This gene encodes a cytoplasmic enzyme in the trans-sulfuration pathway that converts cystathione derived from methionine into cysteine. Glutathione synthesis in the liver is dependent upon the availability of cysteine. Mutations in this gene cause cystathioninuria. Alternative splicing of this gene results in three transcript variants encoding different isoforms. [provided by RefSeq, Jun 2010]
Transcription factors with Perturb-seq knockdown data for CTH. 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 = CTH 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 CTH, 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 |
|---|---|---|---|---|
| chr1:70,204,918–70,206,272 | 205.5 kb | Distal (>10kb) Multiome | 947 | |
| chr1:70,220,975–70,221,995 | 189.8 kb | Distal (>10kb) Multiome | 912 | |
| chr1:70,353,684–70,355,124 | 56.5 kb | Distal (>10kb) Multiome | 1038 | |
| chr1:70,410,268–70,411,834 | 90 bp | At TSS Multiome | 925 | |
| chr1:70,592,572–70,594,158 | 182.5 kb | Distal (>10kb) Multiome | 141 | |
| chr1:70,674,803–70,676,255 | 264.7 kb | Distal (>10kb) Multiome | 424 |
Genomic view of the CTH 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.