This locus encodes a transmembrane protein. Mutations at this locus have been associated with craniofacial dysmorphism, skeletal anomalies, and cognitive disability. Mutations at this locus have also been associated with open angle glaucoma blindness. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]
Transcription factors with Perturb-seq knockdown data for TMCO1. 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 = TMCO1 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 TMCO1, 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 |
|---|---|---|---|---|
| chr1:165,597,953–165,599,004 | 170.6 kb | Distal (>10kb) Multiome | 625 | |
| chr1:165,630,162–165,632,376 | 137.9 kb | Distal (>10kb) Multiome | 964 | |
| chr1:165,697,663–165,699,113 | 70.3 kb | Distal (>10kb) Multiome | 874 | |
| chr1:165,768,487–165,769,501 | 89 bp | At TSS Multiome | 853 | |
| chr1:165,776,661–165,776,897 | 7.8 kb | Proximal (<10kb) | 18 | |
| chr1:165,826,984–165,829,203 | 58.8 kb | Distal (>10kb) Multiome | 903 |
Genomic view of the TMCO1 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.