Comprehensive information about experimentally validated enhancers
| Enhancer ID: | E_01742 |
| Species: | Homo sapiens |
| Position : | chr7:156785000-156786000 |
| Year: | 2021 |
| Title: | Deletion of CTCF sites in the SHH locus alters enhancer-promoter interactions and leads to acheiropodia |
| Genome Build: | hg38 |
| Enhancer Type: | Enhancer |
| Condition: | Normal |
| Disease Name: | -- |
| PMID: | 33863876 |
| MONDO: | |
| Tissue: | Blood |
| Tissue Ontology ID: | UBERON:0000178 |
| Cell Source: | Patient lymphoblastoid |
| CVCL ID: | |
| Cell Type: | lymphoblastoid cell |
| Cell Ontology ID: | CL:0000945 |
| Experiment Type: | Chromatin interaction assay, TF binding assay |
| High Throughput Method: | 4C-seq, ChIP-seq |
| Low Throughput Method: | DNA FISH, ChIP-RT-qPCR |
| Target gene : | SHH |
| TF name : | CTCF |
| Regulatory State : | Active |
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| CTCF | Activation of anterior HOX genes in hindbrain development during early embryogenesis | reactome | 120 |
| CTCF | TGF_beta_Receptor | netpath | 220 |