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    LOC122056896 Sharpr-MPRA regulatory region 4387 [ Homo sapiens (human) ]

    Gene ID: 122056896, updated on 10-Oct-2023

    Summary

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    Gene symbol
    LOC122056896
    Gene description
    Sharpr-MPRA regulatory region 4387
    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 K562 erythroleukemia cells (group: K562 Repressive DNase matched - State 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, Jul 2021]
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    Genomic context

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    See LOC122056896 in Genome Data Viewer
    Location:
    1p
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (61233877..61234171)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (61112646..61112940)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (61699549..61699843)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378764 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:61368907-61369440 Neighboring gene NFIA antisense RNA 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:61520031-61520904 Neighboring gene Sharpr-MPRA regulatory region 5981 Neighboring gene Sharpr-MPRA regulatory region 2485 Neighboring gene NFE2L2 motif-containing MPRA enhancer 286 Neighboring gene nuclear factor I A Neighboring gene ReSE screen-validated silencer GRCh37_chr1:61713056-61713264 Neighboring gene NANOG hESC enhancer GRCh37_chr1:61715889-61716390 Neighboring gene NFIA antisense RNA 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:61766471-61767069 Neighboring gene MPRA-validated peak260 silencer Neighboring gene Sharpr-MPRA regulatory region 1245 Neighboring gene MPRA-validated peak261 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr1:61902263-61902764 Neighboring gene VISTA enhancer hs1309 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:61942976-61943490 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:61946773-61947972 Neighboring gene uncharacterized LOC105378766

    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_076350.1 

      Range
      101..395
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      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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      61233877..61234171
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      61112646..61112940
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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