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    LOC111413013 HNF4 motif-containing MPRA enhancer 140 [ Homo sapiens (human) ]

    Gene ID: 111413013, updated on 10-Oct-2023

    Summary

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    Gene symbol
    LOC111413013
    Gene description
    HNF4 motif-containing MPRA enhancer 140
    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. It was validated as a functional enhancer by high-throughput massively parallel reporter assays (MPRAs) in liver carcinoma HepG2 cells. This enhancer contains a conserved motif for the HNF4 activator. Mutation of this motif results in reduced enhancer activity. [provided by RefSeq, Nov 2017]
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    Genomic context

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    See LOC111413013 in Genome Data Viewer
    Location:
    14q
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (74898819..74898963)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (69107919..69108063)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (75365522..75365666)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903348 Neighboring gene prospero homeobox 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:75342793-75343292 Neighboring gene METTL5 pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:75348551-75348777 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8732 Neighboring gene dihydrolipoamide S-succinyltransferase Neighboring gene ribosomal protein S6 kinase like 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:75388716-75389487 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:75389488-75390258 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:75401143-75401710 Neighboring gene uncharacterized LOC107984690 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5936 Neighboring gene placental growth factor

    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

    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 140
    • massively parallel reporter assay enhancer 140

    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_055846.1 

      Range
      101..245
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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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      74898819..74898963
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      69107919..69108063
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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