This gene encodes a neuron- and testis-specific protein that is also expressed in some paraneoplastic syndromes affecting the nervous system. Some patients with neurologic disorders develop antibodies against the protein encoded by this gene. The identification of the antineuronal antibodies in the sera of these patients has facilitated the diagnosis of paraneoplastic neurological disorders and the early detection of the associated tumors. [provided by RefSeq, Feb 2014]
Transcription factors with Perturb-seq knockdown data for PNMA1. 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 = PNMA1 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 PNMA1, 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 |
|---|---|---|---|---|
| chr14:73,457,486–73,459,145 | 255.7 kb | Distal (>10kb) Multiome | 720 | |
| chr14:73,490,604–73,491,982 | 223.4 kb | Distal (>10kb) Multiome | 866 | |
| chr14:73,569,145–73,570,199 | 145.0 kb | Distal (>10kb) Multiome | 680 | |
| chr14:73,591,810–73,592,493 | 122.2 kb | Distal (>10kb) Multiome | 259 | |
| chr14:73,612,266–73,613,237 | 101.7 kb | Distal (>10kb) Multiome | 521 | |
| chr14:73,633,521–73,634,788 | 80.8 kb | Distal (>10kb) Multiome | 541 | |
| chr14:73,644,535–73,645,291 | 69.5 kb | Distal (>10kb) Multiome | 667 | |
| chr14:73,705,045–73,705,347 | 9.0 kb | Proximal (<10kb) | 6 | |
| chr14:73,713,545–73,714,769 | 72 bp | At TSS Multiome | 759 | |
| chr14:73,718,770–73,719,334 | 4.7 kb | Proximal (<10kb) Multiome | 138 | |
| chr14:73,759,247–73,760,633 | 46.0 kb | Distal (>10kb) Multiome | 912 | |
| chr14:73,771,644–73,772,269 | 57.6 kb | Distal (>10kb) Multiome | 846 | |
| chr14:73,785,281–73,785,818 | 71.2 kb | Distal (>10kb) Multiome | 458 | |
| chr14:73,786,685–73,787,517 | 72.8 kb | Distal (>10kb) Multiome | 497 | |
| chr14:73,851,491–73,852,843 | 137.5 kb | Distal (>10kb) Multiome | 842 | |
| chr14:73,886,331–73,887,426 | 172.4 kb | Distal (>10kb) Multiome | 963 | |
| chr14:73,949,767–73,950,750 | 235.8 kb | Distal (>10kb) Multiome | 932 |
Genomic view of the PNMA1 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.