Comprehensive information about experimentally validated enhancers
| Enhancer ID: | E_00968 |
| Species: | Homo sapiens |
| Position : | chr4:55575000-55577000 |
| Year: | 2018 |
| Title: | AML1/ETO trans-activates c-KIT expression through the long range interaction between promoter and intronic enhancer. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | acute myeloid leukemia with t(8; 21)(q22; q22.1) |
| PMID: | 29236325 |
| MONDO: | MONDO:0850492 |
| Tissue: | blood |
| Tissue Ontology ID: | UBERON:0000178 |
| Cell Source: | Kasumi-1 |
| CVCL ID: | CVCL_0589 |
| Cell Type: | myeloblast |
| Cell Ontology ID: | CL:0000835 |
| Experiment Type: | Enhancer activity assay; TF binding assay; Chromatin interaction assay; Functional perturbation assay |
| High Throughput Method: | AML1/ETO and cofactor ChIP-seq data analysis; AML patient expression-cohort analysis; ChIP-seq; 3C |
| Low Throughput Method: | Luciferase reporter assay; ChIP-qPCR; ChIP-3C-qPCR; AML1/ETO siRNA knockdown; RT-qPCR; Reporter assay; qPCR |
| Target gene : | KIT |
| TF name : | RUNX1::RUNX1T1 |
| Regulatory State : | Active |
| GeneName | Pathway Name | Source | Gene Number |
|---|
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_03312 | chr4:55520000-55580000 | digestive tract | interstitial cell of Cajal lineage | gastrointestinal stromal tumor |