About Enhancer
| Enhancer ID: | E_04143 |
| Species: | Homo sapiens |
| Position : | chr16:1480850-1482378   |
| Year: | 2019 |
| Title: | Noncoding deletions reveal a gene that is critical for intestinal function |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | intractable congenital diarrhoea caused by intestine-critical region deletion |
| PMID: | 31217582 |
| Tissue: | intestine |
| Tissue Ontology ID: | UBERON:0000160 |
| Cell Source: | patient-derived intestinal organoids |
| Cell Type: | enteroendocrine cell |
| Cell Ontology ID: | CL:0000164 |
| Experiment Type: | Disease-associated noncoding deletion analysis; transgenic enhancer reporter; endogenous regulatory-region deletion; target-gene rescue; in vivo phenotyping |
| High Throughput Method: | Whole-genome sequencing; whole-exome sequencing; RNA-seq; intestinal single-cell transcriptome re-analysis |
| Low Throughput Method: | Transgenic mouse reporter assay; targeted ICR deletion in mice; RT-qPCR; immunofluorescence; histology; iPSC-derived intestinal organoid analysis; ICR-driven PERCC1 rescue transgene |
About Target Gene
| Target gene : | PERCC1 |
About TF
| TF name : | NA |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|
Enhancer Associated Network
Overlapping Enhancers (hg19)
1 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_04160 | chr16:1480850-1482378 | intestine | enteroendocrine cell | intractable congenital diarrhoea caused by intestine-critical region deletion |
Expression of Target Genes for the Enhancer