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    LOC126806608 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:13895244-13896443 [ Homo sapiens (human) ]

    Gene ID: 126806608, updated on 10-Oct-2023

    Summary

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    Gene symbol
    LOC126806608
    Gene description
    P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:13895244-13896443
    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 were also shown to be active enhancers by ChIP-STARR-seq in primed human embryonic stem cells, where both are marked by the H3K27ac and H3K4me1 histone modifications. [provided by RefSeq, Oct 2022]
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    Genomic context

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    Location:
    chromosome: 3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (13853196..13855133)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (13853833..13855770)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100293612 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:13696034-13696534 Neighboring gene Sharpr-MPRA regulatory region 4110 Neighboring gene long intergenic non-protein coding RNA 620 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:13716597-13717098 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:13723071-13723616 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:13738746-13739365 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:13739985-13740604 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:13742088-13742588 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:13769563-13770149 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:13770150-13770736 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:13814826-13815326 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:13822297-13822796 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:13828435-13829175 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:13829176-13829915 Neighboring gene tRNA suppressor (anticodon CTA) 2-1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:13834054-13834694 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:13875041-13875541 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:13876230-13876730 Neighboring gene Wnt family member 7A Neighboring gene Sharpr-MPRA regulatory region 1149 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:13894067-13894571 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:13920041-13920542 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:13921045-13921546 Neighboring gene uncharacterized LOC105376957 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19494 Neighboring gene Sharpr-MPRA regulatory region 1925 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_64801 Neighboring gene vomeronasal 1 receptor 20 pseudogene

    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_chr3:13894693-13895662
    • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:13895663-13896630

    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_082928.2 

      Range
      101..2038
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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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      13853196..13855133
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      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      13853833..13855770
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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