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    LOC126653320 MED14-independent group 3 enhancer GRCh37_chr21:19038958-19040157 [ Homo sapiens (human) ]

    Gene ID: 126653320, updated on 10-Oct-2023

    Summary

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    Gene symbol
    LOC126653320
    Gene description
    MED14-independent group 3 enhancer GRCh37_chr21:19038958-19040157
    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, Aug 2022]
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    Genomic context

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    See LOC126653320 in Genome Data Viewer
    Location:
    chromosome: 21
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (17666640..17667839)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (16021663..16022862)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:18900282-18901218 Neighboring gene basic transcription factor 3 like 4 pseudogene 1 Neighboring gene CXADR Ig-like cell adhesion molecule Neighboring gene BTG3 antisense RNA 1 Neighboring gene BTG anti-proliferation factor 3 Neighboring gene uncharacterized LOC124904999 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:19060700-19061602 Neighboring gene uncharacterized LOC124900465 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18294 Neighboring gene C21orf91 overlapping transcript 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18295 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18296 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18297 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18298 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18299 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18300 Neighboring gene chromosome 21 open reading frame 91 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13223 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18301 Neighboring gene CHODL antisense RNA 1

    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_081813.1 

      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_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      17666640..17667839
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      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187627.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      62946..64145
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      16021663..16022862
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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