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    LOC125338460 Sharpr-MPRA regulatory region 6782 [ Homo sapiens (human) ]

    Gene ID: 125338460, updated on 10-Oct-2023

    Summary

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    Gene symbol
    LOC125338460
    Gene description
    Sharpr-MPRA regulatory region 6782
    Gene type
    biological region
    Feature type(s)
    regulatory: 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 a functional repressive element by the Sharpr-MPRA technique (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in HepG2 liver carcinoma cells (group: HepG2 Repressive non-DNase unmatched - State 23:Low, low signal proximal to active elements). [provided by RefSeq, May 2022]
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    Genomic context

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    See LOC125338460 in Genome Data Viewer
    Location:
    18p
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (715629..715923)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (870000..870294)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene clusterin like 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:657377-657878 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:657879-658378 Neighboring gene TYMS opposite strand RNA Neighboring gene enolase superfamily member 1 Neighboring gene thymidylate synthetase Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr18:686134-686722 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:697612-697744 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9242 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:712826-713405 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13022 Neighboring gene YES proto-oncogene 1, Src family tyrosine kinase Neighboring gene RNA, U1 small nuclear 109, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9243 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9244 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:812361-812903 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:812904-813445 Neighboring gene NANOG hESC enhancer GRCh37_chr18:830325-830891 Neighboring gene bolA family member 2 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. 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

    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_080644.1 

      Range
      101..395
      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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      715629..715923
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      870000..870294
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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