This gene encodes a mitochondrial protein involved in granulocyte-macrophage colony-stimulating factor (GM-CSF) signaling. This protein also plays a role in the import of nuclear-encoded mitochondrial proteins into the mitochondrial matrix and may be important in reactive oxygen species (ROS) homeostasis. Mutations in this gene cause Megarbane-Dagher-Melike type spondylometaphyseal dysplasia, an early lethal skeletal dysplasia characterized by short stature, developmental delay and other skeletal abnormalities. [provided by RefSeq, May 2017]
Transcription factors with Perturb-seq knockdown data for PAM16. 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 = PAM16 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 PAM16, 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 |
|---|---|---|---|---|
| chr16:4,115,028–4,117,244 | 234.7 kb | Distal (>10kb) Multiome | 659 | |
| chr16:4,183,149–4,184,737 | 167.3 kb | Distal (>10kb) Multiome | 944 | |
| chr16:4,244,460–4,244,980 | 106.7 kb | Distal (>10kb) Multiome | 290 | |
| chr16:4,253,312–4,254,436 | 97.3 kb | Distal (>10kb) Multiome | 960 | |
| chr16:4,263,483–4,264,402 | 87.5 kb | Distal (>10kb) Multiome | 258 | |
| chr16:4,271,070–4,274,312 | 77.3 kb | Distal (>10kb) Multiome | 1130 | |
| chr16:4,293,681–4,294,322 | 57.3 kb | Distal (>10kb) Multiome | 385 | |
| chr16:4,307,236–4,308,275 | 43.5 kb | Distal (>10kb) Multiome | 635 | |
| chr16:4,309,629–4,310,195 | 41.3 kb | Distal (>10kb) Multiome | 351 | |
| chr16:4,315,041–4,316,747 | 35.5 kb | Distal (>10kb) Multiome | 520 | |
| chr16:4,327,446–4,328,634 | 23.0 kb | Distal (>10kb) Multiome | 495 | |
| chr16:4,350,579–4,351,773 | 54 bp | At TSS Multiome | 674 | |
| chr16:4,359,146–4,359,517 | 7.9 kb | Proximal (<10kb) | 291 | |
| chr16:4,371,473–4,372,791 | 20.5 kb | Distal (>10kb) Multiome | 617 | |
| chr16:4,402,485–4,403,104 | 51.5 kb | Distal (>10kb) Multiome HiCAR | 450 | |
| chr16:4,415,818–4,417,201 | 65.4 kb | Distal (>10kb) Multiome | 681 | |
| chr16:4,425,392–4,426,322 | 74.4 kb | Distal (>10kb) Multiome | 881 | |
| chr16:4,474,111–4,474,929 | 123.3 kb | Distal (>10kb) Multiome | 626 | |
| chr16:4,476,027–4,477,237 | 125.1 kb | Distal (>10kb) Multiome | 841 | |
| chr16:4,537,639–4,538,998 | 187.4 kb | Distal (>10kb) Multiome | 1087 | |
| chr16:4,585,331–4,585,992 | 234.4 kb | Distal (>10kb) Multiome | 223 | |
| chr16:4,613,912–4,617,164 | 263.6 kb | Distal (>10kb) Multiome | 1079 | |
| chr16:4,624,301–4,625,703 | 273.4 kb | Distal (>10kb) Multiome | 866 |
Genomic view of the PAM16 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.