This gene encodes lipase A, the lysosomal acid lipase (also known as cholesterol ester hydrolase). This enzyme functions in the lysosome to catalyze the hydrolysis of cholesteryl esters and triglycerides. Mutations in this gene can result in Wolman disease and cholesteryl ester storage disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]
Transcription factors with Perturb-seq knockdown data for LIPA. 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 = LIPA 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 LIPA, 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 |
|---|---|---|---|---|
| chr10:88,990,170–88,992,059 | 261.0 kb | Distal (>10kb) Multiome | 819 | |
| chr10:89,224,655–89,225,951 | 26.5 kb | Distal (>10kb) Multiome | 266 | |
| chr10:89,251,129–89,252,212 | 147 bp | At TSS Multiome | 665 | |
| chr10:89,260,204–89,260,902 | 8.8 kb | Proximal (<10kb) Multiome | 392 | |
| chr10:89,333,420–89,334,413 | 82.5 kb | Distal (>10kb) Multiome | 253 | |
| chr10:89,414,203–89,415,651 | 163.0 kb | Distal (>10kb) Multiome HiCAR | 735 | |
| chr10:89,533,952–89,534,872 | 282.5 kb | Distal (>10kb) Multiome | 254 | |
| chr10:89,535,099–89,536,715 | 284.0 kb | Distal (>10kb) Multiome | 338 |
Genomic view of the LIPA 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.