This gene encodes the enzyme responsible for hydrolysis of both HIBYL-CoA and beta-hydroxypropionyl-CoA. Mutations in this gene have been associated with 3-hyroxyisobutyryl-CoA hydrolase deficiency. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
Transcription factors with Perturb-seq knockdown data for HIBCH. 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 = HIBCH 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 HIBCH, 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 |
|---|---|---|---|---|
| chr2:190,119,022–190,119,699 | 200.4 kb | Distal (>10kb) Multiome | 98 | |
| chr2:190,168,959–190,170,203 | 150.3 kb | Distal (>10kb) Multiome | 174 | |
| chr2:190,179,802–190,181,497 | 139.3 kb | Distal (>10kb) Multiome HiCAR | 911 | |
| chr2:190,314,877–190,315,072 | 4.8 kb | Proximal (<10kb) | 31 | |
| chr2:190,319,052–190,320,177 | 59 bp | At TSS Multiome | 934 | |
| chr2:190,343,052–190,344,699 | 24.2 kb | Distal (>10kb) Multiome | 922 | |
| chr2:190,407,333–190,409,184 | 88.6 kb | Distal (>10kb) Multiome | 669 | |
| chr2:190,533,850–190,535,346 | 214.8 kb | Distal (>10kb) Multiome | 1040 |
Genomic view of the HIBCH 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.