The protein encoded by this gene plays an important role in the structural development and calcification of tooth enamel. Defects in this gene are a cause of amelogenesis imperfecta type 3 (AI3). [provided by RefSeq, Mar 2010]
Transcription factors with Perturb-seq knockdown data for FAM83H. 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 = FAM83H 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 FAM83H, 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 |
|---|---|---|---|---|
| chr8:143,540,714–143,542,061 | 192.3 kb | Distal (>10kb) Multiome | 849 | |
| chr8:143,553,122–143,554,177 | 180.1 kb | Distal (>10kb) Multiome | 775 | |
| chr8:143,558,225–143,558,936 | 175.3 kb | Distal (>10kb) Multiome | 600 | |
| chr8:143,567,166–143,570,227 | 164.6 kb | Distal (>10kb) Multiome | 485 | |
| chr8:143,571,367–143,572,283 | 162.0 kb | Distal (>10kb) Multiome | 443 | |
| chr8:143,577,641–143,578,799 | 155.4 kb | Distal (>10kb) Multiome | 470 | |
| chr8:143,596,744–143,599,643 | 136.2 kb | Distal (>10kb) Multiome | 973 | |
| chr8:143,608,979–143,610,357 | 124.0 kb | Distal (>10kb) Multiome HiCAR | 735 | |
| chr8:143,617,068–143,618,380 | 116.1 kb | Distal (>10kb) Multiome HiCAR | 823 | |
| chr8:143,635,715–143,636,601 | 97.8 kb | Distal (>10kb) Multiome | 786 | |
| chr8:143,684,308–143,684,747 | 49.3 kb | Distal (>10kb) Multiome | 686 | |
| chr8:143,716,075–143,716,913 | 17.5 kb | Distal (>10kb) Multiome | 311 | |
| chr8:143,733,345–143,734,440 | 39 bp | At TSS Multiome | 663 | |
| chr8:143,736,593–143,736,817 | 2.8 kb | Proximal (<10kb) | 158 | |
| chr8:143,740,039–143,740,754 | 6.7 kb | Proximal (<10kb) Multiome | 308 | |
| chr8:143,771,202–143,772,221 | 38.0 kb | Distal (>10kb) Multiome | 405 | |
| chr8:143,814,945–143,816,493 | 82.0 kb | Distal (>10kb) Multiome | 893 | |
| chr8:143,828,724–143,829,946 | 95.6 kb | Distal (>10kb) Multiome | 933 | |
| chr8:143,840,284–143,841,979 | 107.3 kb | Distal (>10kb) Multiome | 551 | |
| chr8:143,877,814–143,879,346 | 144.8 kb | Distal (>10kb) Multiome | 444 | |
| chr8:143,941,814–143,942,929 | 208.5 kb | Distal (>10kb) Multiome | 630 | |
| chr8:143,943,562–143,944,432 | 210.3 kb | Distal (>10kb) Multiome | 587 | |
| chr8:143,951,583–143,954,394 | 220.0 kb | Distal (>10kb) Multiome | 943 | |
| chr8:143,972,817–143,973,908 | 239.8 kb | Distal (>10kb) Multiome | 436 | |
| chr8:143,976,288–143,977,568 | 243.2 kb | Distal (>10kb) Multiome | 738 | |
| chr8:143,989,521–143,991,038 | 256.2 kb | Distal (>10kb) Multiome | 596 |
Genomic view of the FAM83H 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.