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    LOC126862745 MED14-independent group 3 enhancer GRCh37_chr18:47375491-47376690 [ Homo sapiens (human) ]

    Gene ID: 126862745, updated on 10-Oct-2023

    Summary

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    Gene symbol
    LOC126862745
    Gene description
    MED14-independent group 3 enhancer GRCh37_chr18:47375491-47376690
    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, where it 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. A subregion was also validated as an enhancer by ChIP-STARR-seq in naive human embryonic stem cells, where it is marked by the H3K4me1 histone modification. [provided by RefSeq, Dec 2022]
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    Genomic context

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    See LOC126862745 in Genome Data Viewer
    Location:
    chromosome: 18
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (49849121..49850320)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (50050910..50052109)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 2051 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9451 Neighboring gene acetyl-CoA acyltransferase 2 Neighboring gene small Cajal body-specific RNA 17 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:47371819-47372320 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:47373043-47373544 Neighboring gene small nucleolar RNA host gene 22 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:47382468-47382968 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:47382969-47383469 Neighboring gene myosin VB Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:47405587-47406786 Neighboring gene Sharpr-MPRA regulatory region 7262 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:47430620-47431120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:47431121-47431621 Neighboring gene RNA, 5S ribosomal pseudogene 457 Neighboring gene uncharacterized LOC124904299 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:47500397-47500898

    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
    2. Functional Dissection of the Enhancer Repertoire in Human Embryonic Stem Cells. Barakat TS, et al. Cell Stem Cell, 2018 Aug 2. PMID 30033119, 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

    General gene information

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    Other Names

    • H3K4me1 hESC enhancer GRCh37_chr18:47375783-47376294

    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_087242.1 

      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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      49849121..49850320
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      50050910..50052109
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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