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    LOC126861615 CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:103244689-103245888 [ Homo sapiens (human) ]

    Gene ID: 126861615, updated on 10-Oct-2023

    Summary

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    Gene symbol
    LOC126861615
    Gene description
    CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:103244689-103245888
    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 2 enhancer that depends on the BRD2, BRD4, P300/CBP, MED14 and CDK7 cofactors, with strong dependence on CDK7. [provided by RefSeq, Sep 2022]
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    Genomic context

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    Location:
    chromosome: 12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (102850911..102852110)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (102811820..102813021)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2456 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23056 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:102814900-102816099 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23075/23079 Neighboring gene insulin like growth factor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:102869029-102869530 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:102869531-102870030 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6881 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6882 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6883 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6884 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6885 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:102933234-102934433 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:103115830-103116467 Neighboring gene Sharpr-MPRA regulatory region 11085 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:103218752-103218929 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:103226259-103226804 Neighboring gene long intergenic non-protein coding RNA 485 Neighboring gene NANOG hESC enhancer GRCh37_chr12:103232984-103233485 Neighboring gene uncharacterized LOC124902999 Neighboring gene phenylalanine hydroxylase Neighboring gene uncharacterized LOC112267865 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:103343731-103344658

    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_086114.1 

      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
      102850911..102852110
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      102811820..102813021
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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