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    LOC121294073 Sharpr-MPRA regulatory region 1875 [ Homo sapiens (human) ]

    Gene ID: 121294073, updated on 12-Sep-2024

    Summary

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    Gene symbol
    LOC121294073
    Gene description
    Sharpr-MPRA regulatory region 1875
    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 non-DNase unmatched - State 24:Quies, heterochromatin/dead zone). This region also displayed repressive activity by Sharpr-MPRA in K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 24:Quies). [provided by RefSeq, May 2021]
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    Genomic context

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    See LOC121294073 in Genome Data Viewer
    Location:
    8p
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (14486540..14486834)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (14752380..14752674)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (14344049..14344343)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene sarcoglycan zeta Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_102128 Neighboring gene RNA, U7 small nuclear 153 pseudogene Neighboring gene eukaryotic translation initiation factor 4E pseudogene 5 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_102145 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_102166 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_102220 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:14345650-14346402 Neighboring gene RNA, U6 small nuclear 397, pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr8:14422792-14423293 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:14530452-14530953 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:14530954-14531454 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:14660111-14660843 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:14660844-14661575 Neighboring gene microRNA 383

    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_074315.1 

      Range
      101..395
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      GenBank, FASTA, Sequence Viewer (Graphics)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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
      14486540..14486834
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      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      14752380..14752674
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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