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    LOC112694694 H3K27ac hESC enhancers GRCh37_chr20:23330429-23331301 and GRCh37_chr20:23331302-23332173 [ Homo sapiens (human) ]

    Gene ID: 112694694, updated on 10-Oct-2023

    Summary

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    Gene symbol
    LOC112694694
    Gene description
    H3K27ac hESC enhancers GRCh37_chr20:23330429-23331301 and GRCh37_chr20:23331302-23332173
    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. Two subregions marked by the H3K27ac histone modification were validated as active enhancers by ChIP-STARR-seq in naive human embryonic stem cells. An overlapping 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 unmatched - State 1:Tss, active promoter, TSS/CpG island region) and K562 erythroleukemia cells (group: K562 Activating non-DNase unmatched - State 1:Tss). This locus also includes three accessible chromatin subregions, two of which were validated as silencers and one as an enhancer based on their ability to repress or 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 LOC112694694 in Genome Data Viewer
    Location:
    20p
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (23349792..23351536)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (23409334..23411078)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (23331069..23331363)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17631 Neighboring gene long intergenic non-protein coding RNA 3125 Neighboring gene RNA, 5S ribosomal pseudogene 478 Neighboring gene Sharpr-MPRA regulatory region 4869 Neighboring gene MPRA-validated peak4168 silencer Neighboring gene Sharpr-MPRA regulatory region 11415 Neighboring gene Sharpr-MPRA regulatory region 15236 Neighboring gene uncharacterized LOC105372571 Neighboring gene NXT1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12723 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:23325274-23325494 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17633 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17634 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17635 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12726 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12727 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17636 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12728 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17637 Neighboring gene long intergenic non-protein coding RNA 1431 Neighboring gene nuclear transport factor 2 like export factor 1 Neighboring gene GDNF inducible zinc finger protein 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. 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
    2. 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
    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

    See Variation Viewer (GRCh37.p13)

    General gene information

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    Other Names

    • ATAC-STARR-seq lymphoblastoid active region 17632
    • ATAC-STARR-seq lymphoblastoid silent region 12724
    • ATAC-STARR-seq lymphoblastoid silent region 12725
    • H3K27ac hESC enhancer GRCh37_chr20:23330429-23331301
    • H3K27ac hESC enhancer GRCh37_chr20:23331302-23332173
    • Sharpr-MPRA regulatory region 5983

    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_060724.2 

      Range
      101..1845
      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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      23349792..23351536
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      23409334..23411078
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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