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    LOC112590817 Sharpr-MPRA regulatory region 2453 [ Homo sapiens (human) ]

    Gene ID: 112590817, updated on 10-Dec-2024

    Summary

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    Gene symbol
    LOC112590817
    Gene description
    Sharpr-MPRA regulatory region 2453
    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 DNase matched - State 5:Enh, candidate strong enhancer, open chromatin) and K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 5:Enh). This enhancer overlaps an intron of the JAK1 (Janus kinase 1) gene, which is relevant for COVID-19 treatment. [provided by RefSeq, Jun 2021]
    Annotation information
    Note: This locus has been reviewed for its involvement in coronavirus biology, and is regulatory element in the vicinity of coronavirus related gene(s).
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    Genomic context

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    See LOC112590817 in Genome Data Viewer
    Location:
    1p
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (64934306..64934600)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (64812301..64812595)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (65399989..65400283)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ribonucleoprotein, PTB binding 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1129 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:65312286-65313485 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:65326691-65327236 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1130 Neighboring gene Janus kinase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1131 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1133 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1134 Neighboring gene Sharpr-MPRA regulatory region 6411 Neighboring gene NDUFA4, mitochondrial complex associated pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 958 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1135 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1136 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1137 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1138 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1139 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 959 Neighboring gene long intergenic non-protein coding RNA 1359 Neighboring gene solute carrier family 2 member 3 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1140 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 960 Neighboring gene RNA, U6 small nuclear 1176, pseudogene

    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_060607.1 

      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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      64934306..64934600
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      64812301..64812595
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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