The protein encoded by this gene acts as a homotetramer to catalyze the conversion of homocysteine to cystathionine, the first step in the transsulfuration pathway. The encoded protein is allosterically activated by adenosyl-methionine and uses pyridoxal phosphate as a cofactor. Defects in this gene can cause cystathionine beta-synthase deficiency (CBSD), which can lead to homocystinuria. This gene is a major contributor to cellular hydrogen sulfide production. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2016]
Transcription factors with Perturb-seq knockdown data for CBS. 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 = CBS 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 CBS, 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 |
|---|---|---|---|---|
| chr21:42,793,699–42,794,977 | 281.9 kb | Distal (>10kb) Multiome | 52 | |
| chr21:42,806,044–42,807,071 | 269.3 kb | Distal (>10kb) Multiome | 113 | |
| chr21:42,878,621–42,880,078 | 196.5 kb | Distal (>10kb) Multiome | 989 | |
| chr21:42,892,360–42,893,974 | 182.8 kb | Distal (>10kb) Multiome | 992 | |
| chr21:42,923,670–42,924,528 | 151.9 kb | Distal (>10kb) Multiome | 542 | |
| chr21:42,925,494–42,925,953 | 150.2 kb | Distal (>10kb) Multiome | 42 | |
| chr21:42,936,514–42,937,904 | 138.4 kb | Distal (>10kb) Multiome | 182 | |
| chr21:42,955,489–42,956,014 | 120.2 kb | Distal (>10kb) Multiome | 345 | |
| chr21:42,956,807–42,957,632 | 118.7 kb | Distal (>10kb) Multiome | 172 | |
| chr21:42,972,793–42,975,770 | 101.5 kb | Distal (>10kb) Multiome | 945 |
Genomic view of the CBS 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.