This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with a disorder characterized by progressive epilepsy with cognitive disabilities (EPMR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain. [provided by RefSeq, Jul 2017]
Transcription factors with Perturb-seq knockdown data for CLN8. 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 = CLN8 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 CLN8, 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 |
|---|---|---|---|---|
| chr8:1,657,940–1,658,466 | 105.6 kb | Distal (>10kb) Multiome | 132 | |
| chr8:1,700,997–1,701,729 | 62.4 kb | Distal (>10kb) Multiome | 300 | |
| chr8:1,755,576–1,755,881 | 7.9 kb | Proximal (<10kb) | 390 | |
| chr8:1,758,564–1,759,241 | 4.6 kb | Proximal (<10kb) | 124 | |
| chr8:1,759,396–1,759,708 | 4.1 kb | Proximal (<10kb) | 41 | |
| chr8:1,762,735–1,763,431 | 382 bp | At TSS | 366 | |
| chr8:1,763,611–1,765,449 | 150 bp | At TSS Multiome | 769 | |
| chr8:1,765,557–1,766,098 | 1.7 kb | Proximal (<10kb) | 71 | |
| chr8:1,801,852–1,803,309 | 39.0 kb | Distal (>10kb) Multiome | 182 | |
| chr8:1,816,753–1,817,762 | 53.3 kb | Distal (>10kb) Multiome | 113 | |
| chr8:1,823,171–1,824,563 | 59.9 kb | Distal (>10kb) Multiome | 514 | |
| chr8:1,973,408–1,974,934 | 210.1 kb | Distal (>10kb) Multiome | 298 | |
| chr8:2,000,722–2,003,182 | 238.0 kb | Distal (>10kb) Multiome | 414 |
Genomic view of the CLN8 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.