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    LOC124174254 Sharpr-MPRA regulatory region 1198 [ Homo sapiens (human) ]

    Gene ID: 124174254, updated on 10-Oct-2023

    Summary

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    Gene symbol
    LOC124174254
    Gene description
    Sharpr-MPRA regulatory region 1198
    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 24:Quies, heterochromatin/dead zone). [provided by RefSeq, Feb 2022]
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    Genomic context

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    See LOC124174254 in Genome Data Viewer
    Location:
    8q
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (54711429..54711723)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (55088925..55089219)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (55623989..55624283)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene SEC11 homolog B, signal peptidase complex subunit (pseudogene) Neighboring gene RP1 axonemal microtubule associated Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:55541319-55542518 Neighboring gene RPL7L1 pseudogene 18 Neighboring gene uncharacterized LOC105375842 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:55787756-55788338 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:55795336-55796119 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:55809304-55810503 Neighboring gene MPRA-validated peak7023 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:55923506-55924006 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:55962859-55963358 Neighboring gene uncharacterized LOC107986886 Neighboring gene uncharacterized LOC107986887

    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

    See Variation Viewer (GRCh37.p13)

    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_078553.1 

      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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      54711429..54711723
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      55088925..55089219
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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