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    LOC113174985 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:3209282-3210481 [ Homo sapiens (human) ]

    Gene ID: 113174985, updated on 10-Oct-2023

    Summary

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    Gene symbol
    LOC113174985
    Gene description
    P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:3209282-3210481
    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 (MPRA) 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. 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 K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 1:Tss, active promoter, TSS/CpG island region), with weaker activation in HepG2 liver carcinoma cells (group: HepG2 Activating DNase unmatched - State 4:PromP, inactive/poised promoter, highly conserved). This locus also includes an accessible chromatin subregion that was validated as an enhancer based on its ability to activate an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) MPRA in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
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    Genomic context

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    See LOC113174985 in Genome Data Viewer
    Location:
    6p
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (3209048..3210247)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (3076268..3077440)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (3209429..3209723)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:3177505-3178025 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3178965-3179464 Neighboring gene tubulin beta 2B class IIb pseudogene 1 Neighboring gene long intergenic non-protein coding RNA 2525 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23884 Neighboring gene Sharpr-MPRA regulatory region 8965 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:3194625-3195180 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:3195181-3195734 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:3196289-3196842 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:3226870-3227530 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:3227531-3228189 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:3229485-3230041 Neighboring gene tubulin beta 2B class IIb Neighboring gene uncharacterized LOC100422781 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:3232034-3232816 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23886 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3238669-3239168

    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. ATAC-STARR-seq reveals transcription factor-bound activators and silencers across the chromatin accessible human genome. Hansen TJ, et al. Genome Res, 2022 Jul 20. PMID 35858748, 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

    • ATAC-STARR-seq lymphoblastoid active region 23885
    • Sharpr-MPRA regulatory region 8505

    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_061665.2 

      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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      3209048..3210247
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      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      3076268..3077440
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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