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    LOC126861599 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:93139520-93140719 [ Homo sapiens (human) ]

    Gene ID: 126861599, updated on 10-Oct-2023

    Summary

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    Gene symbol
    LOC126861599
    Gene description
    P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:93139520-93140719
    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 1 enhancer that depends on the BRD2, BRD4, P300/CBP, MED14 and CDK7 cofactors, with strong dependence on P300/CBP. [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 (92745744..92746943)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (92723314..92724513)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903118 Neighboring gene MPRA-validated peak1885 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6749 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6750 Neighboring gene MPRA-validated peak1886 silencer Neighboring gene uncharacterized LOC105369905 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4702 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6751 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:92987036-92988235 Neighboring gene uncharacterized LOC124902983 Neighboring gene MPRA-validated peak1887 silencer Neighboring gene Sharpr-MPRA regulatory region 11325 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6753 Neighboring gene pleckstrin homology and RhoGEF domain containing G7 Neighboring gene MPRA-validated peak1888 silencer Neighboring gene uncharacterized LOC124902984 Neighboring gene early endosome antigen 1 Neighboring gene s-adenosylmethionine synthase type-2-like

    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_086098.1 

      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
      92745744..92746943
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      92723314..92724513
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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