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    LOC126860769 MED14-independent group 3 enhancer GRCh37_chr9:130094714-130095913 [ Homo sapiens (human) ]

    Gene ID: 126860769, updated on 10-Oct-2023

    Summary

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    Gene symbol
    LOC126860769
    Gene description
    MED14-independent group 3 enhancer GRCh37_chr9:130094714-130095913
    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 3 enhancer that depends on the BRD2, BRD4, P300/CBP and CDK7 cofactors, but it has limited or no dependence on the MED14 core Mediator complex subunit. [provided by RefSeq, Sep 2022]
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    Genomic context

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    Location:
    chromosome: 9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (127332435..127333634)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (139538912..139540111)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene GTPase activating Rap/RanGAP domain like 3 Neighboring gene uncharacterized LOC124902274 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29037 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:130047596-130047803 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20301 Neighboring gene DENR pseudogene 4 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:130098321-130099520 Neighboring gene Sharpr-MPRA regulatory region 1510 Neighboring gene uncharacterized LOC124902275 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130146967-130147700 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20302 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20303 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130168662-130169228 Neighboring gene solute carrier family 2 member 8

    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_085268.1 

      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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      127332435..127333634
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      139538912..139540111
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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