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    LOC113939934 Sharpr-MPRA regulatory region 9406 [ Homo sapiens (human) ]

    Gene ID: 113939934, updated on 17-Jun-2024

    Summary

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    Gene symbol
    LOC113939934
    Gene description
    Sharpr-MPRA regulatory region 9406
    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 both HepG2 liver carcinoma cells (group: HepG2 Repressive non-DNase unmatched - State 22:ReprW, weaker Polycomb repression) and K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 24:Quies, heterochromatin/dead zone). [provided by RefSeq, Jan 2019]
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    Genomic context

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    See LOC113939934 in Genome Data Viewer
    Location:
    12q
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (125518163..125518457)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (125526266..125526560)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (126002709..126003003)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene transmembrane protein 132B Neighboring gene uncharacterized LOC105370054 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:125764586-125765449 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:125765450-125766312 Neighboring gene uncharacterized LOC107984445 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5082 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:125798555-125799056 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:125813668-125814394 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:125814395-125815120 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5083 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:125861407-125861906 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:125893185-125893373 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:125917777-125917975 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7322 Neighboring gene NANOG hESC enhancer GRCh37_chr12:125920548-125921070 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:126022594-126023793 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5084 Neighboring gene uncharacterized LOC105370055 Neighboring gene uncharacterized LOC124903047

    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_063719.1 

      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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      125518163..125518457
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      125526266..125526560
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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