Comprehensive information about experimentally validated enhancers
| Enhancer ID: | E_01330 |
| Species: | Homo sapiens |
| Position : | chr8:118250000-118252000 |
| Year: | 2024 |
| Title: | Multiple genetic variants at the SLC30A8 locus affect local super-enhancer activity and influence pancreatic ??-cell survival and function |
| Genome Build: | hg38 |
| Enhancer Type: | Enhancer |
| Condition: | Normal |
| Disease Name: | -- |
| PMID: | 38661000 |
| MONDO: | |
| Tissue: | Pancreatic islet |
| Tissue Ontology ID: | UBERON:0000006 |
| Cell Source: | EndoC-??H3 |
| CVCL ID: | CVCL_A5NF |
| Cell Type: | pancreatic beta cell |
| Cell Ontology ID: | CL:0000169 |
| Experiment Type: | Enhancer activity assay, TF binding assay, Functional perturbation assay |
| High Throughput Method: | ChIP-seq, RNA-seq, Hi-C |
| Low Throughput Method: | CRISPR Knockout, Luciferase Reporter Assay, ChIP-RT-qPCR, RT-RT-qPCR, Western blot |
| Target gene : | SLC30A8 |
| TF name : | PDX1 |
| Regulatory State : | Active |
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| PDX1 | FOXA2 and FOXA3 transcription factor networks | pid | 45 |
| PDX1 | Regulation of gene expression in beta cells | reactome | 17 |
| PDX1 | Regulation of gene expression in early pancreatic precursor cells | reactome | 8 |
| PDX1 | Type II diabetes mellitus | kegg | 44 |
| PDX1 | Maturity onset diabetes of the young | kegg | 25 |
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_01331 | chr8:118250000-118252000 | Pancreatic islet | pancreatic islet cell | -- |