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    LOC121099712 Sharpr-MPRA regulatory region 721 [ Homo sapiens (human) ]

    Gene ID: 121099712, updated on 10-Oct-2023

    Summary

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    Gene symbol
    LOC121099712
    Gene description
    Sharpr-MPRA regulatory region 721
    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. 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 HepG2 liver carcinoma cells (group: HepG2 Activating DNase unmatched - State 4:PromP, inactive/poised promoter, highly conserved). This region also displayed repressive activity by Sharpr-MPRA in K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 21:Repr, strong Polycomb repression). [provided by RefSeq, Apr 2021]
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    Genomic context

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    Location:
    5q
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (160165742..160166036)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (160694325..160694619)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (159592749..159593043)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901124 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:159455528-159455695 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:159469604-159470298 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:159470299-159470993 Neighboring gene tetratricopeptide repeat domain 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:159487609-159488120 Neighboring gene PWWP domain containing 2A Neighboring gene MPRA-validated peak5557 silencer Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:159507098-159508004 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:159508005-159508910 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:159513521-159513688 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23554 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23555 Neighboring gene MPRA-validated peak5558 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16575 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:159546009-159546508 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16578 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23556 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23557 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:159588248-159588903 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:159589561-159590215 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:159591897-159592496 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:159593698-159594298 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:159602660-159603248 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16579 Neighboring gene MPRA-validated peak5559 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16580 Neighboring gene FABP6 antisense RNA 1 Neighboring gene fatty acid binding protein 6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16581 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:159664401-159665356 Neighboring gene ubiquinol-cytochrome c reductase binding protein pseudogene Neighboring gene cyclin J like

    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_074192.1 

      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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      160165742..160166036
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      160694325..160694619
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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