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    LOC126863178 MED14-independent group 3 enhancer GRCh37_chr22:48268308-48269507 [ Homo sapiens (human) ]

    Gene ID: 126863178, updated on 10-Oct-2023

    Summary

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    Gene symbol
    LOC126863178
    Gene description
    MED14-independent group 3 enhancer GRCh37_chr22:48268308-48269507
    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 LOC126863178 in Genome Data Viewer
    Location:
    chromosome: 22
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (47872559..47873758)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (48365024..48366223)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:48021971-48022470 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:48024594-48025473 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:48025474-48026352 Neighboring gene long intergenic non-protein coding RNA 898 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr22:48055109-48055612 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr22:48055613-48056116 Neighboring gene epigenetically induced MYC interacting lncRNA 1 Neighboring gene Sharpr-MPRA regulatory region 4711 Neighboring gene NANOG hESC enhancer GRCh37_chr22:48123351-48123882 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:48135325-48135934 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:48171821-48172322 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:48172323-48172822 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:48209585-48210084 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:48260220-48260392 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr22:48279628-48280827 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:48363686-48363861 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:48438360-48438860 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:48438861-48439361 Neighboring gene uncharacterized LOC124905150 Neighboring gene MPRA-validated peak4509 silencer Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr22:48479499-48480083 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr22:48480084-48480668 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19270 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19271 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19272 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19273 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19274 Neighboring gene uncharacterized LOC107985536

    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_087674.1 

      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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      47872559..47873758
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      48365024..48366223
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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