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    LOC126861504 MED14-independent group 3 enhancer GRCh37_chr12:40422025-40423224 [ Homo sapiens (human) ]

    Gene ID: 126861504, updated on 10-Oct-2023

    Summary

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    Gene symbol
    LOC126861504
    Gene description
    MED14-independent group 3 enhancer GRCh37_chr12:40422025-40423224
    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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    See LOC126861504 in Genome Data Viewer
    Location:
    chromosome: 12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (40028223..40029422)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (39978121..39979320)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902918 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:39968122-39968922 Neighboring gene ATP binding cassette subfamily D member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6203 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6204 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6205 Neighboring gene regulator of DNA class I crossover intermediates 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:40069543-40069733 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:40093231-40093730 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:40092729-40093230 Neighboring gene solute carrier family 2 member 13 Neighboring gene small nucleolar RNA SNORA22 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:40340515-40341014 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:40371836-40372393 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:40372394-40372950 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4349 Neighboring gene uncharacterized LOC112268095 Neighboring gene ribosomal protein L30 pseudogene 13

    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_086003.1 

      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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      40028223..40029422
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      39978121..39979320
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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