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    LOC125177447 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:27481880-27483079 [ Homo sapiens (human) ]

    Gene ID: 125177447, updated on 10-Oct-2023

    Summary

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    Gene symbol
    LOC125177447
    Gene description
    P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:27481880-27483079
    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. A subregion 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, 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. An overlapping 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 14:Gen5', transcription transition, highly expressed genes towards 5' end). Another subregion was also validated as an enhancer by ChIP-STARR-seq in naive human embryonic stem cells, where it is marked by the H3K27ac and H3K4me1 histone modifications. [provided by RefSeq, Jan 2023]
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    Genomic context

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    See LOC125177447 in Genome Data Viewer
    Location:
    17q
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (29154020..29156305)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (30096713..30098998)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene NADH:ubiquinone oxidoreductase subunit S5 pseudogene 7 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:27359363-27360197 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:27369638-27370526 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27381450-27382004 Neighboring gene pipecolic acid and sarcosine oxidase Neighboring gene myosin XVIIIA Neighboring gene Sharpr-MPRA regulatory region 1762 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27423404-27423904 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27423905-27424405 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27429751-27430716 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:27435597-27436179 Neighboring gene Sharpr-MPRA regulatory region 1183 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27454495-27455030 Neighboring gene Sharpr-MPRA regulatory region 390 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27464737-27465720 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27465721-27466704 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8364 Neighboring gene uncharacterized LOC124903967 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11964 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11965 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8365 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11966 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11967 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8366 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8367 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:27507275-27507495 Neighboring gene gap junction protein alpha 4 pseudogene Neighboring gene twinfilin 1 pseudogene 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
    3. 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_chr17:27481038-27481965
    • Sharpr-MPRA regulatory region 271

    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_080502.3 

      Range
      101..2386
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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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      29154020..29156305
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      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      30096713..30098998
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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