This gene encodes a protein with multiple coiled coil motifs which is located in the nucleus, cytoplasm and mitochondria. The protein is involved in neurite outgrowth and cortical development through its interaction with other proteins. This gene is disrupted in a t(1;11)(q42.1;q14.3) translocation which segregates with schizophrenia and related psychiatric disorders in a large Scottish family. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for DISC1. 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 = DISC1 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 DISC1, 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 |
|---|---|---|---|---|
| chr1:231,337,024–231,338,750 | 288.8 kb | Distal (>10kb) Multiome HiCAR | 881 | |
| chr1:231,420,882–231,422,905 | 204.4 kb | Distal (>10kb) Multiome | 956 | |
| chr1:231,528,042–231,528,983 | 98.3 kb | Distal (>10kb) Multiome | 873 | |
| chr1:231,626,385–231,627,805 | 678 bp | At TSS Multiome | 776 | |
| chr1:231,806,520–231,806,998 | 180.0 kb | Distal (>10kb) Multiome | 204 |
Genomic view of the DISC1 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.