Comprehensive information about experimentally validated enhancers
| Enhancer ID: | E_02538 |
| Species: | Homo sapiens |
| Position : | chr15:38850262-38850330 |
| Year: | 2019 |
| Title: | Mechanistic Characterization of RASGRP1 Variants Identifies an hnRNP-K-Regulated Transcriptional Enhancer Contributing to SLE Susceptibility. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | systemic lupus erythematosus |
| PMID: | 31164884 |
| MONDO: | MONDO:0007915 |
| Tissue: | blood |
| Tissue Ontology ID: | UBERON:0000178 |
| Cell Source: | Jurkat E6.1 |
| CVCL ID: | CVCL_0367 |
| Cell Type: | T cell |
| Cell Ontology ID: | CL:0000084 |
| Experiment Type: | Allele-specific enhancer activity; enhancer-binding regulator identification; functional perturbation; Enhancer activity assay; TF binding assay; Disease-variant functional analysis |
| High Throughput Method: | Genetic association/meta-analysis; transcriptomic/regulatory integration; eQTL analysis |
| Low Throughput Method: | Luciferase reporter assay; EMSA; mass spectrometry; HNRNPK ChIP-qPCR; HNRNPK perturbation; RT-qPCR; ERK signaling assay; ChIP-qPCR; ChIP; Allele-specific reporter assay; Reporter assay |
| Target gene : | RASGRP1 |
| TF name : | HNRNPK |
| Regulatory State : | Active |
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| HNRNPK | BCR | netpath | 161 |
| HNRNPK | pre-mRNA splicing | reactome | 135 |
| HNRNPK | Processing of Capped Intron-Containing Pre-mRNA | reactome | 37 |
| HNRNPK | SUMOylation of RNA binding proteins | reactome | 46 |