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    LOC126807492 BRD4-independent group 4 enhancer GRCh37_chr5:121464631-121465830 [ Homo sapiens (human) ]

    Gene ID: 126807492, updated on 10-Oct-2023

    Summary

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    Gene symbol
    LOC126807492
    Gene description
    BRD4-independent group 4 enhancer GRCh37_chr5:121464631-121465830
    Gene type
    biological region
    Feature type(s)
    regulatory: enhancer
    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 validated as an active enhancer by the STARR-seq (self-transcribing active regulatory region sequencing) massively parallel reporter assay in HCT116 colorectal carcinoma cells. This sequence was defined as a group 4 enhancer that depends on the BRD2, P300/CBP, MED14 and CDK7 cofactors, but it has limited or no dependence on the BRD4 bromodomain protein. [provided by RefSeq, Sep 2022]
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    Genomic context

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    See LOC126807492 in Genome Data Viewer
    Location:
    chromosome: 5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (122128936..122130135)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (122645816..122647015)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379149 Neighboring gene uncharacterized LOC105379148 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:121297323-121297861 Neighboring gene serum response factor binding protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:121412305-121412822 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:121412823-121413340 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:121434535-121435734 Neighboring gene Sharpr-MPRA regulatory region 13182 Neighboring gene ZNF474 antisense RNA 1 Neighboring gene lysyl oxidase Neighboring gene zinc finger protein 474 Neighboring gene zinc finger protein 475 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:121602368-121603567 Neighboring gene NANOG hESC enhancer GRCh37_chr5:121632489-121632990 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16268 Neighboring gene synuclein alpha interacting protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:121705022-121705522 Neighboring gene ancient vomeronasal 1 receptor pseudogene

    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. Differential cofactor dependencies define distinct types of human enhancers. Neumayr C, et al. Nature, 2022 Jun. PMID 35650434, 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

    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_083806.1 

      Range
      101..1300
      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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      122128936..122130135
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      122645816..122647015
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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