About Enhancer
| Enhancer ID: | E_01772 |
| Species: | Homo sapiens |
| Position : | chr9:137494462-137494862   |
| Year: | 2024 |
| Title: | Functional dissection of human cardiac enhancers and noncoding de novo variants in congenital heart disease |
| Genome Build: | hg38 |
| Enhancer Type: | Enhancer |
| Condition: | Normal |
| Disease Name: | -- |
| PMID: | 38378865 |
| MONDO: | |
| Tissue: | Endometrium |
| Tissue Ontology ID: | UBERON:0001295 |
| Cell Source: | T-HESC (immortalized human endometrial stromal cells) |
| CVCL ID: | CVCL_UP48 |
| Cell Type: | endometrial stromal cell |
| Cell Ontology ID: | CL:0000066 |
| Experiment Type: | CRISPR interference (CRISPRi) |
| High Throughput Method: | lentiSTARR-seq, lentiMPRA, scATAC-seq |
| Low Throughput Method: | RT-RT-qPCR, FACS, EMSA |
About Target Gene
| Target gene : | COL5A1 |
About TF
| TF name : | GATA4SRFSMAD3THRATBX20 |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| GATA4 | Factors involved in megakaryocyte development and platelet production | reactome | 111 |
| GATA4 | Notch-mediated HES/HEY network | pid | 48 |
| GATA4 | Physiological factors | reactome | 12 |
| GATA4 | Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP) | reactome | 13 |
| GATA4 | YAP1- and WWTR1 (TAZ)-stimulated gene expression | reactome | 29 |
| GATA4 | Hs_Endoderm_Differentiation_WP2853_88152 | wikipathways | 62 |
| GATA4 | Hs_Heart_Development_WP1591_90186 | wikipathways | 28 |
| GATA4 | Hs_Serotonin_Receptor_2_and_ELK-SRF-GATA4_signaling_WP732_80010 | wikipathways | 13 |
| SRF | Coregulation of Androgen receptor activity | pid | 61 |
| SRF | ErbB1 downstream signaling | pid | 105 |
| SRF | Interleukin signaling pathway | panther | 86 |
| SRF | p38 MAPK pathway | panther | 31 |
| SRF | p38 signaling mediated by MAPKAP kinases | pid | 21 |
| SRF | PDGF signaling pathway | panther | 113 |
| SRF | PDGFR-alpha signaling pathway | pid | 22 |
| SRF | PDGFR-beta signaling pathway | pid | 125 |
| SRF | Ras Pathway | panther | 69 |
| SRF | RHO GTPases Activate Formins | reactome | 114 |
| SRF | RhoA signaling pathway | pid | 46 |
| SRF | Signaling events mediated by HDAC Class II | pid | 58 |
| SRF | Trk receptor signaling mediated by the MAPK pathway | pid | 34 |
| SRF | MAPK signaling pathway | kegg | 264 |
| SRF | Hs_VEGFA-VEGFR2_Signaling_Pathway_WP3888_90000 | wikipathways | 153 |
| SRF | Hs_Serotonin_Receptor_4-6-7_and_NR3C_Signaling_WP734_74438 | wikipathways | 15 |
| SRF | Hs_Mesodermal_Commitment_Pathway_WP2857_87780 | wikipathways | 47 |
| SRF | Hs_Serotonin_Receptor_2_and_ELK-SRF-GATA4_signaling_WP732_80010 | wikipathways | 13 |
| SMAD3 | Alpha6Beta4Integrin | netpath | 74 |
| SMAD3 | AndrogenReceptor | netpath | 167 |
| SMAD3 | BMP signaling pathway ( TGF-beta_BMP Diagram(MolecularVariation) ) | inoh | 34 |
| SMAD3 | Downregulation of SMAD2/3:SMAD4 transcriptional activity | reactome | 23 |
| SMAD3 | Downregulation of TGF-beta receptor signaling | reactome | 26 |
| SMAD3 | EGFR1 | netpath | 475 |
| SMAD3 | Gene expression of smad6/7 by R-smad:smad4 ( TGF-beta_super_family_signaling_pathway(canonical) ) | inoh | 8 |
| SMAD3 | Gene expression of smad7 by R-smad:smad4 ( TGF-beta_super_family_signaling_pathway(canonical) ) | inoh | 7 |
| SMAD3 | HIF-1-alpha transcription factor network | pid | 67 |
| SMAD3 | ID | netpath | 38 |
| SMAD3 | Negative regulation of (transcription by R-smad:smad4) in TGF beta super family signaling pathway ( TGF-beta_super_family_signaling_pathway(canonical) ) | inoh | 21 |
| SMAD3 | Notch | netpath | 76 |
| SMAD3 | Regulation of cytoplasmic and nuclear SMAD2/3 signaling | pid | 20 |
| SMAD3 | Regulation of nuclear SMAD2/3 signaling | pid | 82 |
| SMAD3 | Regulation of Telomerase | pid | 70 |
| SMAD3 | Signaling by Activin | reactome | 11 |
| SMAD3 | Signaling by NODAL | reactome | 19 |
| SMAD3 | SMAD2/3 MH2 Domain Mutants in Cancer | reactome | 7 |
| SMAD3 | SMAD2/3 Phosphorylation Motif Mutants in Cancer | reactome | 6 |
| SMAD3 | SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription | reactome | 32 |
| SMAD3 | TGF-beta receptor signaling activates SMADs | reactome | 12 |
| SMAD3 | TGF-beta receptor signaling | pid | 53 |
| SMAD3 | TGF-beta signaling pathway | panther | 88 |
| SMAD3 | TGF-beta_super_family_signaling_pathway(canonical) ( TGF-beta_BMP Diagram(MolecularVariation) ) | inoh | 51 |
| SMAD3 | TGF_beta_Receptor | netpath | 220 |
| SMAD3 | TGFBR1 KD Mutants in Cancer | reactome | 7 |
| SMAD3 | TNFalpha | netpath | 274 |
| SMAD3 | Validated targets of C-MYC transcriptional activation | pid | 80 |
| SMAD3 | Validated targets of C-MYC transcriptional repression | pid | 63 |
| SMAD3 | Cell cycle | kegg | 124 |
| SMAD3 | Endocytosis | kegg | 201 |
| SMAD3 | Wnt signaling pathway | kegg | 135 |
| SMAD3 | TGF-beta signaling pathway | kegg | 82 |
| SMAD3 | Adherens junction | kegg | 70 |
| SMAD3 | Chagas disease | kegg | 103 |
| SMAD3 | Pathways in cancer | kegg | 321 |
| SMAD3 | Colorectal cancer | kegg | 63 |
| SMAD3 | Pancreatic cancer | kegg | 70 |
| SMAD3 | Hs_Cell_Cycle_WP179_89516 | wikipathways | 33 |
| SMAD3 | Hs_Endoderm_Differentiation_WP2853_88152 | wikipathways | 62 |
| SMAD3 | Hs_Integrated_Cancer_Pathway_WP1971_82939 | wikipathways | 33 |
| SMAD3 | Hs_Mesodermal_Commitment_Pathway_WP2857_87780 | wikipathways | 47 |
| SMAD3 | Hs_TGF-beta_Signaling_Pathway_WP366_90028 | wikipathways | 67 |
| SMAD3 | Hs_Androgen_receptor_signaling_pathway_WP138_79958 | wikipathways | 27 |
| THRA | Nuclear Receptor transcription pathway | reactome | 51 |
| THRA | RXR and RAR heterodimerization with other nuclear receptor | pid | 26 |
| THRA | Neuroactive ligand-receptor interaction | kegg | 272 |
| THRA | Hs_Endochondral_Ossification_WP474_87977 | wikipathways | 43 |
| THRA | Hs_Urea_cycle_and_metabolism_of_amino_groups_WP497_72142 | wikipathways | 8 |
| TBX20 | Hs_Heart_Development_WP1591_90186 | wikipathways | 28 |
Enhancer Associated Network
Overlapping Enhancers (hg38)
No overlapping enhancers found in hg38 at this locus.
Expression of Target Genes for the Enhancer