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    LOC111946251 Sharpr-MPRA regulatory region 5095 [ Homo sapiens (human) ]

    Gene ID: 111946251, updated on 10-Oct-2023

    Summary

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    Gene symbol
    LOC111946251
    Gene description
    Sharpr-MPRA regulatory region 5095
    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 a functional enhancer 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 Activating non-DNase unmatched - State 23:Low, low signal proximal to active elements) and K562 erythroleukemia cells (group: K562 Activating DNase matched - State 8:EnhW, candidate weak enhancer and open chromatin). [provided by RefSeq, Feb 2018]
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    Genomic context

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    Location:
    10p
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (7130507..7130801)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (7130289..7130583)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (7172469..7172763)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:6835894-6836851 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:6836852-6837808 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:6838766-6839721 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:6843478-6844062 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:6844063-6844646 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:6844647-6845230 Neighboring gene long intergenic non-protein coding RNA 707 Neighboring gene uncharacterized LOC105376387 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:6874691-6875192 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:6875193-6875692 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:6918964-6919464 Neighboring gene NANOG hESC enhancer GRCh37_chr10:6952013-6952514 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2970 Neighboring gene nonconserved acetylation island sequence 45 enhancer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:6975635-6976834 Neighboring gene NANOG hESC enhancer GRCh37_chr10:6995095-6995596 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:7014138-7015337 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16768 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16971 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2110 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:7117931-7118110 Neighboring gene NANOG hESC enhancer GRCh37_chr10:7124870-7125371 Neighboring gene long intergenic non-protein coding RNA 2665 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:7212385-7212885 Neighboring gene Scm like with four mbt domains 2 Neighboring gene small nucleolar RNA, C/D box 129 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:7298769-7299968 Neighboring gene cytochrome c oxidase subunit 6C pseudogene 17

    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_056340.1 

      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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      7130507..7130801
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      7130289..7130583
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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    Other Literature Sources
    Molecular Biology Databases