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    LOC124625828 Sharpr-MPRA regulatory region 5256 [ Homo sapiens (human) ]

    Gene ID: 124625828, updated on 10-Oct-2023

    Summary

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    Gene symbol
    LOC124625828
    Gene description
    Sharpr-MPRA regulatory region 5256
    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 HepG2 liver carcinoma cells (group: HepG2 Repressive non-DNase unmatched - State 24:Quies, heterochromatin/dead zone). [provided by RefSeq, Mar 2022]
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    Genomic context

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    See LOC124625828 in Genome Data Viewer
    Location:
    11q
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (100922638..100922932)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (100932115..100932409)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene Rho GTPase activating protein 42 Neighboring gene Sharpr-MPRA regulatory region 13718 Neighboring gene RN7SK pseudogene 115 Neighboring gene uncharacterized LOC105369457 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5430 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5431 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_18463 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5432 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_18498 Neighboring gene small nucleolar RNA, C/D box 13I Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:100848900-100849468 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:100849469-100850035 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:100953401-100953965 Neighboring gene progesterone receptor Neighboring gene PGR antisense RNA 1

    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

    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_079429.1 

      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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      100922638..100922932
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      100932115..100932409
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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