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LOC111413020 HNF4 motif-containing MPRA enhancer 150 [ Homo sapiens (human) ]

Gene ID: 111413020, updated on 10-Oct-2023

Summary

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Gene symbol
LOC111413020
Gene description
HNF4 motif-containing MPRA enhancer 150
Gene type
biological region
Feature type(s)
regulatory: enhancer, transcriptional_cis_regulatory_region
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
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. A sub-region was validated as a functional enhancer by high-throughput massively parallel reporter assays (MPRAs) in HepG2 liver carcinoma cells. The enhancer contains a conserved motif for the HNF4 activator, and mutation of the motif results in reduced enhancer activity. An overlapping sub-region was also validated as a functional enhancer by the Sharpr-MPRA technique (Systematic high-resolution activation and repression profiling with reporter tiling using MPRAs) in HepG2 cells (group: HepG2 Activating DNase matched - State 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, Dec 2018]
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Genomic context

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Location:
8p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (40054751..40055064)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (40331687..40332000)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (39912270..39912583)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene polo like kinase 4 pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:39807747-39808491 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27278 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27279 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:39835255-39836184 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:39836330-39836562 Neighboring gene indoleamine 2,3-dioxygenase 2 Neighboring gene Sharpr-MPRA regulatory region 1248 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27280 Neighboring gene nuclear transcription factor Y subunit beta pseudogene Neighboring gene Sharpr-MPRA regulatory region 3146 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:39908434-39908606 Neighboring gene uncharacterized LOC105379385 Neighboring gene HNF1 motif-containing MPRA enhancer 269 Neighboring gene transcriptional and immune response regulator Neighboring gene NANOG hESC enhancer GRCh37_chr8:40077338-40077937 Neighboring gene NANOG hESC enhancer GRCh37_chr8:40194220-40194743 Neighboring gene SIRT1 regulating lncRNA tumor promoter

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Systematic dissection of regulatory motifs in 2000 predicted human enhancers using a massively parallel reporter assay. Kheradpour P, et al. Genome Res, 2013 May. PMID 23512712, Free PMC Article
  2. Mapping and analysis of chromatin state dynamics in nine human cell types. Ernst J, et al. Nature, 2011 May 5. PMID 21441907, Free PMC Article
  3. Genome-scale high-resolution mapping of activating and repressive nucleotides in regulatory regions. Ernst J, et al. Nat Biotechnol, 2016 Nov. PMID 27701403, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

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Other Names

  • HNF4 activator MPRA enhancer 150
  • Sharpr-MPRA regulatory region 2710
  • massively parallel reporter assay enhancer 150

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_055852.2 

    Range
    101..414
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    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    40054751..40055064
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    40331687..40332000
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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