| GeneOntologyMolecularFunction | DNA-binding transcription factor activity, RNA polymerase II-specific | FOXD4L1 UNCX KLF13 GLI1 DUX4L9 KLF14 CC2D1A DUX4L2 DUX4 RUNX2 LYL1 DUX4L4 ZNF574 | 9.21e-05 | 1412 | 55 | 13 | GO:0000981 |
| GeneOntologyBiologicalProcess | positive regulation of mitochondrial transcription | CHCHD10 SIRT3 | 1.94e-05 | 3 | 53 | 2 | GO:1903109 |
| Pubmed | Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element. | DUX4L9 DUX4L2 DUX4 DUX4L5 DUX4L6 DUX4L3 DUX4L4 DUX4L7 | 2.06e-20 | 12 | 59 | 8 | 10433963 |
| Pubmed | Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy. | DUX4L9 DUX4L2 DUX4 DUX4L5 DUX4L6 DUX4L3 DUX4L4 DUX4L7 | 5.34e-20 | 13 | 59 | 8 | 17668377 |
| Pubmed | The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein. | DUX4L2 DUX4 DUX4L5 DUX4L6 DUX4L3 DUX4L4 DUX4L7 | 2.23e-19 | 8 | 59 | 7 | 17588759 |
| Pubmed | DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1. | DUX4L2 DUX4 DUX4L5 DUX4L6 DUX4L3 DUX4L4 DUX4L7 | 3.34e-18 | 10 | 59 | 7 | 17984056 |
| Pubmed | Characterization of a tandemly repeated 3.3-kb KpnI unit in the facioscapulohumeral muscular dystrophy (FSHD) gene region on chromosome 4q35. | DUX4L2 DUX4 DUX4L5 DUX4L6 DUX4L3 DUX4L4 DUX4L7 | 4.76e-17 | 13 | 59 | 7 | 7739628 |
| Pubmed | Active genes in junk DNA? Characterization of DUX genes embedded within 3.3 kb repeated elements. | DUX4L2 DUX4 DUX4L5 DUX4L6 DUX4L3 DUX4L4 DUX4L7 | 5.37e-16 | 17 | 59 | 7 | 11245978 |
| Pubmed | The homeobox transcription factor DUXBL controls exit from totipotency. | DUX4L9 DUX4L2 DUX4L4 | 1.85e-08 | 4 | 59 | 3 | 38509386 |
| Pubmed | Expression profiling of immature thymocytes revealed a novel homeobox gene that regulates double-negative thymocyte development. | DUX4L9 DUX4L2 DUX4L4 | 1.85e-08 | 4 | 59 | 3 | 17911620 |
| Pubmed | Characterization of genomic structures and expression profiles of three tandem repeats of a mouse double homeobox gene: Duxbl. | DUX4L9 DUX4L2 DUX4L4 | 4.63e-08 | 5 | 59 | 3 | 20063414 |
| Pubmed | The transcription factor Duxbl mediates elimination of pre-T cells that fail β-selection. | DUX4L9 DUX4L2 DUX4L4 | 1.62e-07 | 7 | 59 | 3 | 30765463 |
| Pubmed | Proteins recruited by SH3 domains of Ruk/CIN85 adaptor identified by LC-MS/MS. | SAMD1 KLF13 PABPC4 LEMD2 MAP7 | 1.15e-06 | 108 | 59 | 5 | 19531213 |
| Pubmed | Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice. | DUX4L9 DUX4L2 DUX4L4 | 2.08e-06 | 15 | 59 | 3 | 35727972 |
| Pubmed | Proteomic analysis identifies transcriptional cofactors and homeobox transcription factors as TBX18 binding proteins. | DUX4L9 DUX4L2 DUX4L4 | 2.08e-06 | 15 | 59 | 3 | 30071041 |
| Pubmed | Defective regulation of microRNA target genes in myoblasts from facioscapulohumeral dystrophy patients. | DUX4L9 DUX4 | 2.83e-06 | 2 | 59 | 2 | 24145033 |
| Pubmed | Serum Deprivation-Induced Human GM3 Synthase (hST3Gal V) Gene Expression Is Mediated by Runx2 in Human Osteoblastic MG-63 Cells. | ST3GAL5 RUNX2 | 2.83e-06 | 2 | 59 | 2 | 26729095 |
| Pubmed | DUX4c is up-regulated in FSHD. It induces the MYF5 protein and human myoblast proliferation. | DUX4L9 DUX4 | 1.69e-05 | 4 | 59 | 2 | 19829708 |
| Pubmed | Wdpcp regulates cellular proliferation and differentiation in the developing limb via hedgehog signaling. | GLI1 RUNX2 | 1.69e-05 | 4 | 59 | 2 | 34225660 |
| Pubmed | Runx2+ Niche Cells Maintain Incisor Mesenchymal Tissue Homeostasis through IGF Signaling. | GLI1 RUNX2 | 1.69e-05 | 4 | 59 | 2 | 32783935 |
| Pubmed | The functional interactome of PYHIN immune regulators reveals IFIX is a sensor of viral DNA. | SAMD1 UTP18 DDX31 PABPC4 LEMD2 NOL9 | 2.82e-05 | 349 | 59 | 6 | 25665578 |
| Pubmed | RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy. | DUX4L2 DUX4 | 2.82e-05 | 5 | 59 | 2 | 19359275 |
| Pubmed | Ihh signaling is directly required for the osteoblast lineage in the endochondral skeleton. | GLI1 RUNX2 | 5.91e-05 | 7 | 59 | 2 | 14973297 |
| Pubmed | Ihh and Runx2/Runx3 signaling interact to coordinate early chondrogenesis: a mouse model. | GLI1 RUNX2 | 7.87e-05 | 8 | 59 | 2 | 23383321 |
| Pubmed | DUX is a non-essential synchronizer of zygotic genome activation. | DUX4L9 DUX4L2 DUX4L4 | 8.59e-05 | 50 | 59 | 3 | 31806660 |
| Pubmed | Does adult fracture repair recapitulate embryonic skeletal formation? | GLI1 RUNX2 | 1.01e-04 | 9 | 59 | 2 | 10495271 |
| Pubmed | G9a is involved in the regulation of cranial bone formation through activation of Runx2 function during development. | GLI1 RUNX2 | 1.01e-04 | 9 | 59 | 2 | 32344102 |
| Pubmed | Finding the Unicorn, a New Mouse Model of Midfacial Clefting. | GLI1 RUNX2 | 1.01e-04 | 9 | 59 | 2 | 31940751 |
| Pubmed | Regulation of Calvarial Osteogenesis by Concomitant De-repression of GLI3 and Activation of IHH Targets. | GLI1 RUNX2 | 1.01e-04 | 9 | 59 | 2 | 29311969 |
| Pubmed | Impaired skin and hair follicle development in Runx2 deficient mice. | GLI1 RUNX2 | 1.01e-04 | 9 | 59 | 2 | 18262513 |
| Pubmed | Ligand-dependent hedgehog signaling maintains an undifferentiated, malignant osteosarcoma phenotype. | GLI1 RUNX2 | 1.26e-04 | 10 | 59 | 2 | 37845394 |
| Pubmed | Sonic hedgehog is not a limb morphogen but acts as a trigger to specify all digits in mice. | UNCX GLI1 | 1.26e-04 | 10 | 59 | 2 | 35977544 |
| Pubmed | Role of Indian hedgehog signaling in palatal osteogenesis. | GLI1 RUNX2 | 1.54e-04 | 11 | 59 | 2 | 21364421 |
| Pubmed | Indian hedgehog signaling regulates proliferation and differentiation of chondrocytes and is essential for bone formation. | GLI1 RUNX2 | 1.54e-04 | 11 | 59 | 2 | 10465785 |
| Pubmed | Gli1 protein participates in Hedgehog-mediated specification of osteoblast lineage during endochondral ossification. | GLI1 RUNX2 | 1.54e-04 | 11 | 59 | 2 | 22493482 |
| Pubmed | Runx2 (Cbfa1) inhibits Shh signaling in the lower but not upper molars of mouse embryos and prevents the budding of putative successional teeth. | GLI1 RUNX2 | 1.54e-04 | 11 | 59 | 2 | 15668330 |
| Pubmed | Prickle1 regulates differentiation of frontal bone osteoblasts. | GLI1 RUNX2 | 1.54e-04 | 11 | 59 | 2 | 30575813 |
| Pubmed | Role of GSK-3β in the osteogenic differentiation of palatal mesenchyme. | GLI1 RUNX2 | 1.85e-04 | 12 | 59 | 2 | 22022457 |
| Pubmed | Sonic hedgehog regulates proliferation and inhibits differentiation of CNS precursor cells. | GDF7 GLI1 | 2.18e-04 | 13 | 59 | 2 | 10516314 |
| Pubmed | Spatial Multi-omics Reveals the Role of the Wnt Modulator, Dkk2, in Palatogenesis'. | GLI1 RUNX2 | 2.18e-04 | 13 | 59 | 2 | 38910391 |
| Pubmed | Interactions of the Antiviral Factor Interferon Gamma-Inducible Protein 16 (IFI16) Mediate Immune Signaling and Herpes Simplex Virus-1 Immunosuppression. | UTP18 CENPB LEMD2 NOL9 ZNF574 | 2.52e-04 | 332 | 59 | 5 | 25693804 |
| Pubmed | Class III myosins shape the auditory hair bundles by limiting microvilli and stereocilia growth. | TRIOBP MYO15A | 2.54e-04 | 14 | 59 | 2 | 26754646 |
| Pubmed | The transcription factor Foxc1 is necessary for Ihh-Gli2-regulated endochondral ossification. | GLI1 RUNX2 | 2.54e-04 | 14 | 59 | 2 | 25808752 |
| Pubmed | Regulation of cranial morphogenesis and cell fate at the neural crest-mesoderm boundary by engrailed 1. | GLI1 RUNX2 | 2.54e-04 | 14 | 59 | 2 | 22395741 |
| Pubmed | The E3 ubiquitin ligase HECTD1 contributes to cell proliferation through an effect on mitosis. | SAMD1 UTP18 DDX31 CENPB PABPC4 RBM15B NOL9 | 2.92e-04 | 759 | 59 | 7 | 35915203 |
| Pubmed | RGS12 polarizes the GPSM2-GNAI complex to organize and elongate stereocilia in sensory hair cells. | TRIOBP MYO15A | 2.93e-04 | 15 | 59 | 2 | 36260679 |
| Pubmed | Bobby sox homolog regulates tooth root formation through modulation of dentin sialophosphoprotein. | GLI1 RUNX2 | 2.93e-04 | 15 | 59 | 2 | 32537777 |
| Pubmed | The collagen receptor, discoidin domain receptor 2, functions in Gli1-positive skeletal progenitors and chondrocytes to control bone development. | GLI1 RUNX2 | 3.34e-04 | 16 | 59 | 2 | 35140200 |
| Pubmed | Long bone development requires a threshold of Hox function. | GLI1 RUNX2 | 3.79e-04 | 17 | 59 | 2 | 24930703 |
| Pubmed | Different roles of Runx2 during early neural crest-derived bone and tooth development. | GLI1 RUNX2 | 3.79e-04 | 17 | 59 | 2 | 16813524 |
| Pubmed | Distinct roles of Hand2 in initiating polarity and posterior Shh expression during the onset of mouse limb bud development. | GLI1 RUNX2 | 4.25e-04 | 18 | 59 | 2 | 20386744 |
| Pubmed | Sonic hedgehog signaling regulates a novel epithelial progenitor domain of the hindbrain choroid plexus. | GDF7 GLI1 | 4.25e-04 | 18 | 59 | 2 | 19570847 |
| Pubmed | Analysis of expansion of myeloid progenitors in mice to identify leukemic susceptibility genes. | KLF13 RUNX2 | 4.25e-04 | 18 | 59 | 2 | 16897342 |
| Pubmed | Expression of a Constitutively Active Form of Hck in Chondrocytes Activates Wnt and Hedgehog Signaling Pathways, and Induces Chondrocyte Proliferation in Mice. | GLI1 RUNX2 | 4.75e-04 | 19 | 59 | 2 | 32290615 |
| Pubmed | Disrupted dorsal neural tube BMP signaling in the cilia mutant Arl13b hnn stems from abnormal Shh signaling. | GDF7 GLI1 | 4.75e-04 | 19 | 59 | 2 | 21539826 |
| Pubmed | Segmental variations in trabecular bone density and microstructure of the spine in senescence-accelerated mouse (SAMP6): a murine model for senile osteoporosis. | GLI1 RUNX2 | 4.75e-04 | 19 | 59 | 2 | 22342532 |
| Pubmed | Cooperative activity of noggin and gremlin 1 in axial skeleton development. | UNCX GLI1 | 4.75e-04 | 19 | 59 | 2 | 21303853 |
| Pubmed | Ventral specification and perturbed boundary formation in the mouse midbrain in the absence of Hedgehog signaling. | GDF7 GLI1 | 4.75e-04 | 19 | 59 | 2 | 18429041 |
| Pubmed | Fuz regulates craniofacial development through tissue specific responses to signaling factors. | GLI1 RUNX2 | 5.27e-04 | 20 | 59 | 2 | 21935430 |
| Pubmed | FKBP8 is a negative regulator of mouse sonic hedgehog signaling in neural tissues. | GDF7 GLI1 | 5.27e-04 | 20 | 59 | 2 | 15105374 |
| Pubmed | Receptor tyrosine kinase-like orphan receptor 2 (ROR2) and Indian hedgehog regulate digit outgrowth mediated by the phalanx-forming region. | GLI1 RUNX2 | 5.27e-04 | 20 | 59 | 2 | 20660756 |
| Pubmed | Deletion of Fibroblast growth factor 9 globally and in skeletal muscle results in enlarged tuberosities at sites of deltoid tendon attachments. | GLI1 CHRNE | 5.27e-04 | 20 | 59 | 2 | 34091985 |
| Pubmed | RAB23 coordinates early osteogenesis by repressing FGF10-pERK1/2 and GLI1. | GLI1 RUNX2 | 5.27e-04 | 20 | 59 | 2 | 32662771 |
| Pubmed | Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome. | UNCX GLI1 | 5.82e-04 | 21 | 59 | 2 | 14745966 |
| Pubmed | Temporomandibular joint formation requires two distinct hedgehog-dependent steps. | GDF7 GLI1 | 5.82e-04 | 21 | 59 | 2 | 19815519 |
| Pubmed | Suppressor of Fused restraint of Hedgehog activity level is critical for osteogenic proliferation and differentiation during calvarial bone development. | GLI1 RUNX2 | 5.82e-04 | 21 | 59 | 2 | 28794157 |
| Pubmed | Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes. | TPR SAMD1 FOXD4L1 CENPB ING1 GLI1 NOL9 | 6.03e-04 | 857 | 59 | 7 | 25609649 |
| Pubmed | Specification of the mammalian cochlea is dependent on Sonic hedgehog. | GLI1 MYO15A | 6.39e-04 | 22 | 59 | 2 | 12231626 |
| Pubmed | Conditional Deletion of Indian Hedgehog in Limb Mesenchyme Results in Complete Loss of Growth Plate Formation but Allows Mature Osteoblast Differentiation. | GLI1 RUNX2 | 6.39e-04 | 22 | 59 | 2 | 26094741 |
| Pubmed | Identification of motif-based interactions between SARS-CoV-2 protein domains and human peptide ligands pinpoint antiviral targets. | C15orf39 DUX4 TP53INP2 WNK2 | 6.69e-04 | 233 | 59 | 4 | 37704626 |
| Pubmed | The G protein-coupled receptor Gpr161 regulates forelimb formation, limb patterning and skeletal morphogenesis in a primary cilium-dependent manner. | GLI1 RUNX2 | 7.00e-04 | 23 | 59 | 2 | 29222391 |
| Pubmed | Genetic variation in healthy oldest-old. | ING1 SIRT3 | 7.62e-04 | 24 | 59 | 2 | 19680556 |
| Pubmed | FOXC1 and FOXC2 regulate growth plate chondrocyte maturation towards hypertrophy in the embryonic mouse limb skeleton. | GLI1 RUNX2 | 7.62e-04 | 24 | 59 | 2 | 39012257 |
| Pubmed | Disruption of GMNC-MCIDAS multiciliogenesis program is critical in choroid plexus carcinoma development. | GDF7 GLI1 | 7.62e-04 | 24 | 59 | 2 | 35322202 |
| Pubmed | Anti-osteogenic function of a LIM-homeodomain transcription factor LMX1B is essential to early patterning of the calvaria. | GLI1 RUNX2 | 7.62e-04 | 24 | 59 | 2 | 29852132 |
| Pubmed | Snf2h-mediated chromatin organization and histone H1 dynamics govern cerebellar morphogenesis and neural maturation. | UNCX GLI1 | 7.62e-04 | 24 | 59 | 2 | 24946904 |
| Pubmed | Functional proteomic analysis of human nucleolus. | UTP18 DDX31 NOL9 | 7.90e-04 | 106 | 59 | 3 | 12429849 |
| Pubmed | Forward genetics defines Xylt1 as a key, conserved regulator of early chondrocyte maturation and skeletal length. | GLI1 RUNX2 | 8.28e-04 | 25 | 59 | 2 | 24161523 |
| Pubmed | Mammalian SP/KLF transcription factors: bring in the family. | KLF13 KLF14 | 8.28e-04 | 25 | 59 | 2 | 15820306 |
| Pubmed | The RNA-mediated estrogen receptor α interactome of hormone-dependent human breast cancer cell nuclei. | SAMD1 DDX31 GTPBP6 PABPC4 RBM15B TRIOBP NOL9 MAP7 ZNF574 | 8.92e-04 | 1497 | 59 | 9 | 31527615 |
| Pubmed | Notch pathway regulation of chondrocyte differentiation and proliferation during appendicular and axial skeleton development. | UNCX RUNX2 | 8.96e-04 | 26 | 59 | 2 | 19590010 |
| Pubmed | Ssdp1 regulates head morphogenesis of mouse embryos by activating the Lim1-Ldb1 complex. | FOXD4L1 UNCX | 8.96e-04 | 26 | 59 | 2 | 15857913 |
| Pubmed | Gli3 coordinates three-dimensional patterning and growth of the tectum and cerebellum by integrating Shh and Fgf8 signaling. | GDF7 GLI1 | 9.66e-04 | 27 | 59 | 2 | 18480159 |
| Pubmed | Single-cell analysis identifies a key role for Hhip in murine coronal suture development. | GLI1 RUNX2 | 1.04e-03 | 28 | 59 | 2 | 34880220 |
| Pubmed | Temporospatial regulation of intraflagellar transport is required for the endochondral ossification in mice. | GLI1 RUNX2 | 1.12e-03 | 29 | 59 | 2 | 34929174 |
| Pubmed | Intraflagellar transport protein 122 antagonizes Sonic Hedgehog signaling and controls ciliary localization of pathway components. | GDF7 GLI1 | 1.12e-03 | 29 | 59 | 2 | 21209331 |
| Pubmed | Evc works in chondrocytes and osteoblasts to regulate multiple aspects of growth plate development in the appendicular skeleton and cranial base. | GLI1 RUNX2 | 1.19e-03 | 30 | 59 | 2 | 21911092 |
| Pubmed | Molecular profiling of the vestibular lamina highlights a key role for Hedgehog signalling. | GLI1 RUNX2 | 1.27e-03 | 31 | 59 | 2 | 36971701 |
| Pubmed | The transcription factor Otx2 regulates choroid plexus development and function. | GDF7 GLI1 | 1.44e-03 | 33 | 59 | 2 | 23364326 |
| Pubmed | H4K20me0 recognition by BRCA1-BARD1 directs homologous recombination to sister chromatids. | SAMD1 UTP18 KLF13 ING1 LEMD2 RBM15B NOL9 MAP7 | 1.48e-03 | 1294 | 59 | 8 | 30804502 |
| Pubmed | Twist function is required for the morphogenesis of the cephalic neural tube and the differentiation of the cranial neural crest cells in the mouse embryo. | UNCX GLI1 | 1.53e-03 | 34 | 59 | 2 | 12086465 |
| Pubmed | ISLET1-Dependent β-Catenin/Hedgehog Signaling Is Required for Outgrowth of the Lower Jaw. | GLI1 RUNX2 | 1.62e-03 | 35 | 59 | 2 | 28069742 |
| Pubmed | A probability-based approach for high-throughput protein phosphorylation analysis and site localization. | TPR UTP18 CC2D1A MAP7 ZNF574 | 1.63e-03 | 503 | 59 | 5 | 16964243 |
| Cytoband | 4q35.2 | DUX4L2 DUX4L5 DUX4L6 DUX4L3 DUX4L4 DUX4L7 | 1.00e-12 | 27 | 59 | 6 | 4q35.2 |
| Cytoband | Ensembl 112 genes in cytogenetic band chr4q35 | DUX4L9 DUX4L2 DUX4 DUX4L5 DUX4L6 DUX4L3 DUX4L4 DUX4L7 | 2.78e-12 | 117 | 59 | 8 | chr4q35 |
| Cytoband | 19p13.12 | SAMD1 CC2D1A | 1.91e-03 | 50 | 59 | 2 | 19p13.12 |
| GeneFamily | PRD class homeoboxes and pseudogenes | UNCX DUX4L9 DUX4L2 DUX4L5 DUX4L6 DUX4L3 DUX4L4 DUX4L7 | 5.03e-11 | 92 | 44 | 8 | 521 |
| GeneFamily | Zinc fingers C2H2-type|Kruppel like factors | KLF13 KLF14 | 8.64e-04 | 18 | 44 | 2 | 624 |
| CoexpressionAtlas | facebase_RNAseq_e9.5_MaxArch_2500_K4 | SAMD1 DDX31 FBXL18 GLI1 PABPC4 DACT3 RBM15B C15orf39 NOL9 LYL1 ZNF574 | 5.92e-05 | 1125 | 51 | 11 | facebase_RNAseq_e9.5_MaxArch_2500_K4 |
| CoexpressionAtlas | facebase_RNAseq_e9.5_MaxArch_2500 | SAMD1 CHCHD10 DDX31 FBXL18 GLI1 PABPC4 DACT3 RBM15B C15orf39 NOL9 LYL1 ZNF574 | 7.53e-05 | 1371 | 51 | 12 | facebase_RNAseq_e9.5_MaxArch_2500 |
| Disease | total hip arthroplasty, osteoarthritis | TRIOBP RUNX2 | 2.14e-03 | 42 | 48 | 2 | EFO_0009806, MONDO_0005178 |
| Disease | BMI-adjusted waist-hip ratio, sex interaction measurement | KLF14 TP53INP2 | 2.24e-03 | 43 | 48 | 2 | EFO_0007788, EFO_0008343 |
| Disease | Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive | TRIOBP MYO15A | 3.14e-03 | 51 | 48 | 2 | cv:CN043650 |