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    LOC112694707 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:33893217-33894416 [ Homo sapiens (human) ]

    Gene ID: 112694707, updated on 17-Sep-2024

    Summary

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    Gene symbol
    LOC112694707
    Gene description
    P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:33893217-33894416
    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 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 enhancer by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in both HepG2 liver carcinoma cells (group: HepG2 Activating DNase matched - State 5:Enh, candidate strong enhancer, open chromatin) and K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 5:Enh). [provided by RefSeq, Aug 2022]
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    Genomic context

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    See LOC112694707 in Genome Data Viewer
    Location:
    20q
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (35305414..35306613)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (37026275..37027474)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (33893217..33894416)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12856 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33872587-33873137 Neighboring gene FAM83C antisense RNA 1 Neighboring gene eukaryotic translation initiation factor 6 Neighboring gene family with sequence similarity 83 member C Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33892105-33892925 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:33899341-33900264 Neighboring gene Sharpr-MPRA regulatory region 6334 Neighboring gene ubiquinol-cytochrome c reductase complex assembly factor 1 Neighboring gene Sharpr-MPRA regulatory region 14546 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17779 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33999108-33999931 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:33999932-34000754 Neighboring gene MPRA-validated peak4201 silencer Neighboring gene GDF5 promoter region Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12857 Neighboring gene GDF5 antisense RNA 1 Neighboring gene growth differentiation factor 5 Neighboring gene microRNA 1289-1

    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. Genome-scale high-resolution mapping of activating and repressive nucleotides in regulatory regions. Ernst J, et al. Nat Biotechnol, 2016 Nov. PMID 27701403, 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

    See Variation Viewer (GRCh37.p13)

    General gene information

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    Other Names

    • Sharpr-MPRA regulatory region 10216

    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_060737.2 

      Range
      101..1300
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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
      35305414..35306613
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      37026275..37027474
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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