The protein encoded by this intronless gene localizes to mitochondria, where it may function as 4-hydroxyphenylpyruvate dioxygenase. Clinical studies have identified several bi-allelic variants in this gene that lower the level of the encoded protein and lead to a clinically variable form of pediatric-onset spastic movement disorder. [provided by RefSeq, Aug 2020]
Transcription factors with Perturb-seq knockdown data for HPDL. 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 = HPDL 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 HPDL, 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 |
|---|---|---|---|---|
| chr1:44,799,477–44,801,039 | 526.8 kb | Distal (>10kb) Multiome HiCAR | 1017 | |
| chr1:44,807,115–44,808,920 | 519.4 kb | Distal (>10kb) Multiome HiCAR | 987 | |
| chr1:44,818,937–44,820,693 | 506.9 kb | Distal (>10kb) Multiome HiCAR | 1101 | |
| chr1:45,010,856–45,013,180 | 314.6 kb | Distal (>10kb) Multiome HiCAR | 909 | |
| chr1:45,205,664–45,207,097 | 120.5 kb | Distal (>10kb) Multiome | 691 | |
| chr1:45,303,203–45,304,881 | 23.1 kb | Distal (>10kb) Multiome | 1034 | |
| chr1:45,317,165–45,317,643 | 9.2 kb | Proximal (<10kb) | 7 | |
| chr1:45,321,623–45,322,180 | 5.1 kb | Proximal (<10kb) Multiome | 54 | |
| chr1:45,326,327–45,328,092 | 38 bp | At TSS Multiome | 382 | |
| chr1:45,329,431–45,329,812 | 2.5 kb | Proximal (<10kb) | 167 | |
| chr1:45,339,505–45,340,694 | 13.3 kb | Distal (>10kb) Multiome | 951 | |
| chr1:45,490,605–45,491,773 | 164.4 kb | Distal (>10kb) Multiome HiCAR | 900 | |
| chr1:45,499,499–45,500,620 | 173.3 kb | Distal (>10kb) Multiome HiCAR | 831 | |
| chr1:45,521,163–45,522,604 | 195.1 kb | Distal (>10kb) Multiome | 1155 | |
| chr1:45,550,427–45,551,304 | 223.9 kb | Distal (>10kb) Multiome | 1006 | |
| chr1:45,583,145–45,585,182 | 256.8 kb | Distal (>10kb) Multiome | 997 | |
| chr1:45,622,461–45,623,374 | 296.2 kb | Distal (>10kb) Multiome | 169 |
Genomic view of the HPDL 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.