This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function.[provided by RefSeq, Oct 2008]
Transcription factors with Perturb-seq knockdown data for CLN5. 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 = CLN5 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 CLN5, 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 |
|---|---|---|---|---|
| chr13:75,548,880–75,550,494 | 1442.5 kb | Distal (>10kb) Multiome HiCAR | 850 | |
| chr13:75,888,953–75,890,248 | 1102.5 kb | Distal (>10kb) Multiome HiCAR | 112 | |
| chr13:76,884,124–76,887,820 | 105.7 kb | Distal (>10kb) Multiome | 744 | |
| chr13:76,979,798–76,980,501 | 11.8 kb | Distal (>10kb) Multiome | 498 | |
| chr13:76,991,141–76,993,015 | 35 bp | At TSS Multiome | 951 | |
| chr13:77,026,148–77,027,636 | 35.1 kb | Distal (>10kb) Multiome | 762 | |
| chr13:77,047,482–77,049,282 | 56.0 kb | Distal (>10kb) Multiome | 304 |
Genomic view of the CLN5 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.