This gene encodes a protein with a trypsin-like cysteine/serine peptidase domain in the C-terminus. Mutations in this gene are associated with an autosomal dominant form of hereditary fibrosing poikiloderma (HFP). Affected individuals display mottled pigmentation, telangiectasia, epidermal atrophy, tendon contractures, and progressive pulmonary fibrosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. A paralog of this gene which also has a trypsin‐like peptidase domain, FAM111A, is located only 16 kb from this gene on human chromosome 11q12.1. [provided by RefSeq, Apr 2014]
Transcription factors with Perturb-seq knockdown data for FAM111B. 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 = FAM111B 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 FAM111B, 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 |
|---|---|---|---|---|
| chr11:58,900,167–58,901,350 | 206.3 kb | Distal (>10kb) Multiome | 303 | |
| chr11:58,905,068–58,906,400 | 201.3 kb | Distal (>10kb) Multiome | 397 | |
| chr11:58,926,958–58,929,011 | 179.6 kb | Distal (>10kb) Multiome | 272 | |
| chr11:58,963,030–58,964,168 | 143.5 kb | Distal (>10kb) Multiome | 243 | |
| chr11:59,058,072–59,058,928 | 48.6 kb | Distal (>10kb) Multiome | 236 | |
| chr11:59,097,237–59,097,423 | 9.8 kb | Proximal (<10kb) | 26 | |
| chr11:59,101,879–59,102,715 | 4.8 kb | Proximal (<10kb) Multiome | 199 | |
| chr11:59,106,296–59,108,091 | 236 bp | At TSS Multiome | 495 | |
| chr11:59,142,370–59,143,459 | 35.7 kb | Distal (>10kb) Multiome | 736 | |
| chr11:59,144,606–59,145,343 | 37.7 kb | Distal (>10kb) Multiome | 528 | |
| chr11:59,171,483–59,174,527 | 64.8 kb | Distal (>10kb) Multiome | 865 |
Genomic view of the FAM111B 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.