This gene encodes a transmembrane protein and component of the primary cilia transition zone. The encoded protein regulates ciliogenesis and ciliary protein composition. Human fibroblasts expressing a mutant allele of this gene exhibit reduced numbers of cilia, altered cilia length, and impaired sonic hedgehog signaling. In human patients, different mutations in this gene cause different ciliopathies, including Meckel-Gruber syndrome and orofaciodigital syndrome. [provided by RefSeq, May 2017]
Transcription factors with Perturb-seq knockdown data for TMEM107. 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 = TMEM107 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 TMEM107, 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 |
|---|---|---|---|---|
| chr17:7,885,205–7,885,734 | 291.0 kb | Distal (>10kb) Multiome | 371 | |
| chr17:7,887,616–7,888,198 | 288.5 kb | Distal (>10kb) Multiome | 581 | |
| chr17:7,915,430–7,916,499 | 260.5 kb | Distal (>10kb) Multiome | 869 | |
| chr17:7,922,863–7,923,421 | 253.4 kb | Distal (>10kb) Multiome | 205 | |
| chr17:7,929,559–7,930,172 | 246.6 kb | Distal (>10kb) Multiome | 106 | |
| chr17:7,931,533–7,932,876 | 244.3 kb | Distal (>10kb) Multiome | 767 | |
| chr17:7,971,685–7,972,375 | 204.5 kb | Distal (>10kb) Multiome | 45 | |
| chr17:7,989,908–7,990,676 | 186.1 kb | Distal (>10kb) Multiome | 652 | |
| chr17:8,015,966–8,016,968 | 160.4 kb | Distal (>10kb) Multiome | 339 | |
| chr17:8,068,609–8,069,844 | 107.6 kb | Distal (>10kb) Multiome | 100 | |
| chr17:8,079,261–8,080,640 | 96.9 kb | Distal (>10kb) Multiome | 613 | |
| chr17:8,109,567–8,110,530 | 66.1 kb | Distal (>10kb) Multiome | 360 | |
| chr17:8,117,780–8,119,396 | 57.4 kb | Distal (>10kb) Multiome | 684 | |
| chr17:8,119,590–8,122,560 | 55.8 kb | Distal (>10kb) Multiome | 968 | |
| chr17:8,123,407–8,124,386 | 52.3 kb | Distal (>10kb) Multiome | 296 | |
| chr17:8,125,308–8,126,995 | 50.7 kb | Distal (>10kb) Multiome | 724 | |
| chr17:8,138,425–8,139,804 | 37.4 kb | Distal (>10kb) Multiome | 981 | |
| chr17:8,151,026–8,151,640 | 25.1 kb | Distal (>10kb) Multiome | 435 | |
| chr17:8,151,914–8,152,786 | 23.9 kb | Distal (>10kb) Multiome | 633 | |
| chr17:8,153,878–8,154,864 | 22.0 kb | Distal (>10kb) Multiome | 644 | |
| chr17:8,155,928–8,157,418 | 19.8 kb | Distal (>10kb) Multiome | 789 | |
| chr17:8,162,377–8,163,907 | 13.3 kb | Distal (>10kb) Multiome | 637 | |
| chr17:8,172,460–8,174,346 | 2.9 kb | Proximal (<10kb) Multiome | 1196 | |
| chr17:8,175,900–8,176,943 | 33 bp | At TSS Multiome | 601 | |
| chr17:8,185,937–8,188,084 | 11.3 kb | Distal (>10kb) Multiome | 1065 | |
| chr17:8,189,376–8,190,688 | 13.9 kb | Distal (>10kb) Multiome | 748 | |
| chr17:8,192,025–8,192,719 | 16.0 kb | Distal (>10kb) Multiome | 452 | |
| chr17:8,210,139–8,210,786 | 34.2 kb | Distal (>10kb) Multiome | 778 | |
| chr17:8,220,662–8,224,088 | 46.6 kb | Distal (>10kb) Multiome | 1171 | |
| chr17:8,226,529–8,227,280 | 50.4 kb | Distal (>10kb) Multiome | 565 | |
| chr17:8,247,519–8,249,589 | 73.0 kb | Distal (>10kb) Multiome | 914 | |
| chr17:8,288,100–8,289,230 | 112.4 kb | Distal (>10kb) Multiome | 751 | |
| chr17:8,295,073–8,296,021 | 119.1 kb | Distal (>10kb) Multiome | 739 | |
| chr17:8,310,033–8,310,555 | 133.9 kb | Distal (>10kb) Multiome | 98 | |
| chr17:8,313,329–8,313,824 | 137.2 kb | Distal (>10kb) Multiome | 30 | |
| chr17:8,376,215–8,376,918 | 200.3 kb | Distal (>10kb) Multiome | 888 | |
| chr17:8,382,925–8,384,028 | 207.0 kb | Distal (>10kb) Multiome | 981 | |
| chr17:8,435,307–8,436,885 | 259.5 kb | Distal (>10kb) Multiome | 847 |
Genomic view of the TMEM107 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.