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    LOC123480930 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:128629462-128630661 [ Homo sapiens (human) ]

    Gene ID: 123480930, updated on 10-Oct-2023

    Summary

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    Gene symbol
    LOC123480930
    Gene description
    P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:128629462-128630661
    Gene type
    biological region
    Feature type(s)
    regulatory: enhancer, silencer
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This genomic sequence was predicted to be a transcriptional regulatory region based on chromatin state analysis from the ENCODE (ENCyclopedia Of DNA Elements) project. It 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. A subregion was also validated as a functional repressive element by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 23:Low, low signal proximal to active elements). [provided by RefSeq, Aug 2022]
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    Genomic context

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    Location:
    4q
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (127708307..127709506)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (131011323..131012522)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (128630109..128630403)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724210 Neighboring gene uncharacterized LOC107986312 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_73387 Neighboring gene Sharpr-MPRA regulatory region 9584 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:128328664-128328924 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_73515 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_73569 Neighboring gene Sharpr-MPRA regulatory region 5357 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:128525826-128526649 Neighboring gene uncharacterized LOC105377412 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:128553760-128554299 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:128576502-128577102 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:128577103-128577701 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:128607842-128609041 Neighboring gene inturned planar cell polarity protein Neighboring gene ReSE screen-validated silencer GRCh37_chr4:128651275-128651432 Neighboring gene uncharacterized LOC105377414 Neighboring gene solute carrier family 25 member 31 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15671 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15672 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15673 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15674 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:128703547-128704539 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21886 Neighboring gene SOSS complex subunit C-like Neighboring gene heat shock protein family A (Hsp70) member 4 like

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    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

    See Variation Viewer (GRCh37.p13)

    General gene information

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    Other Names

    • Sharpr-MPRA regulatory region 1790

    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_077624.2 

      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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      127708307..127709506
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      131011323..131012522
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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