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    LOC126862965 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:6678222-6679421 [ Homo sapiens (human) ]

    Gene ID: 126862965, updated on 10-Oct-2023

    Summary

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    Gene symbol
    LOC126862965
    Gene description
    P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:6678222-6679421
    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 includes enhancers that were validated by the STARR-seq (self-transcribing active regulatory region sequencing) massively parallel reporter assay. The major subregion had activity in HCT116 colorectal carcinoma cells, where it 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. Two subregions marked by the H3K27ac and H3K4me1 histone modifications were also shown to be active enhancers by ChIP-STARR-seq in primed human embryonic stem cells. [provided by RefSeq, Nov 2022]
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    Genomic context

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    See LOC126862965 in Genome Data Viewer
    Location:
    chromosome: 20
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (6697008..6698774)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (6738195..6739961)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904866 Neighboring gene cancer susceptibility 20 Neighboring gene Sharpr-MPRA regulatory region 6239 Neighboring gene MPRA-validated peak4139 silencer Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:6571340-6572539 Neighboring gene Sharpr-MPRA regulatory region 6314 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr20:6593736-6594935 Neighboring gene OCT4 hESC enhancer GRCh37_chr20:6617898-6618411 Neighboring gene Sharpr-MPRA regulatory region 10991 Neighboring gene long intergenic non-protein coding RNA 1713 Neighboring gene BMP2 5' regulatory region Neighboring gene uncharacterized LOC105372517

    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

    • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:6677655-6678286
    • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:6678287-6678917

    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_087462.2 

      Range
      101..1867
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      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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      6697008..6698774
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      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      6738195..6739961
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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