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    LOC111413033 NFE2L2 motif-containing MPRA enhancer 171 [ Homo sapiens (human) ]

    Gene ID: 111413033, updated on 10-Oct-2023

    Summary

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    Gene symbol
    LOC111413033
    Gene description
    NFE2L2 motif-containing MPRA enhancer 171
    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 NFE2L2 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 LOC111413033 in Genome Data Viewer
    Location:
    9q
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (120684545..120684689)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (132880694..132880838)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (123446823..123446967)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376253 Neighboring gene MPRA-validated peak7326 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr9:123142787-123142995 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:123152383-123152883 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:123164680-123165648 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr9:123174184-123174980 Neighboring gene CDK5 regulatory subunit associated protein 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:123251855-123252356 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:123252357-123252856 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:123342117-123342679 Neighboring gene multiple EGF like domains 9 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20222 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:123455017-123455827 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20223 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28893 Neighboring gene adenosylhomocysteinase pseudogene 2 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:123530344-123531012 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:123555395-123556025 Neighboring gene F-box and WD repeat domain containing 2

    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

    • NFE2L2 activator MPRA enhancer 171
    • massively parallel reporter assay enhancer 171

    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_055863.1 

      Range
      101..245
      Download
      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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      120684545..120684689
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      132880694..132880838
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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