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Gene : 111365192 Homo sapiens

Description  This genomic region was predicted to be a cell type-specific enhancer based on chromatin state analysis from the ENCODE (ENCyclopedia Of DNA Elements) project. It was validated as a functional enhancer by the Sharpr-MPRA technique (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in both HepG2 liver carcinoma cells (group: HepG2 Activating DNase unmatched - State 5:Enh, candidate strong enhancer, open chromatin) and K562 erythroleukemia cells (group: K562 Activating DNase matched - State 5:Enh). A sub-region also functioned as an enhancer by high-throughput massively parallel reporter assays (MPRAs) in K562 cells. The sub-region contains a conserved motif for a GATA activator, and mutation of the motif results in reduced enhancer activity. [provided by RefSeq, Dec 2018]
  • identifiers:
  • 111365192

Genome feature

Region: gene ?
Location: No location information in HumanMine


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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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