This gene belongs to the cytidylyltransferase family and is involved in the regulation of phosphatidylcholine biosynthesis. Mutations in this gene are associated with spondylometaphyseal dysplasia with cone-rod dystrophy. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]
Transcription factors with Perturb-seq knockdown data for PCYT1A. 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 = PCYT1A 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 PCYT1A, 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 |
|---|---|---|---|---|
| chr3:196,081,045–196,082,675 | 205.6 kb | Distal (>10kb) Multiome | 1081 | |
| chr3:196,110,410–196,110,962 | 177.1 kb | Distal (>10kb) Multiome | 307 | |
| chr3:196,207,804–196,208,801 | 79.5 kb | Distal (>10kb) Multiome | 300 | |
| chr3:196,273,588–196,274,153 | 13.9 kb | Distal (>10kb) Multiome | 95 | |
| chr3:196,287,125–196,288,362 | 85 bp | At TSS Multiome | 979 | |
| chr3:196,317,553–196,318,672 | 30.5 kb | Distal (>10kb) Multiome | 830 | |
| chr3:196,431,516–196,433,176 | 144.8 kb | Distal (>10kb) Multiome | 851 | |
| chr3:196,503,288–196,504,272 | 216.1 kb | Distal (>10kb) Multiome | 897 | |
| chr3:196,528,585–196,529,088 | 241.2 kb | Distal (>10kb) Multiome | 425 | |
| chr3:196,568,218–196,569,450 | 281.0 kb | Distal (>10kb) Multiome | 853 |
Genomic view of the PCYT1A 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.