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    LOC123620116 Sharpr-MPRA regulatory region 4049 [ Homo sapiens (human) ]

    Gene ID: 123620116, updated on 10-Oct-2023

    Summary

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    Gene symbol
    LOC123620116
    Gene description
    Sharpr-MPRA regulatory region 4049
    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 2:TssF, active promoter, flanking TSS/CpG islands). [provided by RefSeq, Dec 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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    Location:
    6p
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (41544391..41544685)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (41373426..41373720)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (41512129..41512423)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986538 Neighboring gene VISTA enhancer hs2104 Neighboring gene uncharacterized LOC112267957 Neighboring gene Sharpr-MPRA regulatory region 8968 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:41424325-41425112 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41438012-41438663 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24508 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41459644-41460288 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:41461668-41461828 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:41470387-41471134 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:41471135-41471882 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24509 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17181 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41473163-41473662 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17182 Neighboring gene long intergenic non-protein coding RNA 1276 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr6:41499390-41499960 and GRCh37_chr6:41499961-41500529 Neighboring gene FOXP4 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 11601 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24511 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17183 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24512 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17184 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17185 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17186 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr6:41522869-41523869 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41527759-41528701 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:41529644-41530586 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:41530587-41531527 Neighboring gene forkhead box P4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:41536528-41537428 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:41537429-41538327 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:41546115-41546738 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:41546739-41547361 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41549275-41549776 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41551423-41552002 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41552003-41552582 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41552583-41553162 Neighboring gene VISTA enhancer hs1100 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:41565978-41566562 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:41566563-41567146 Neighboring gene Sharpr-MPRA regulatory region 5412 Neighboring gene microRNA 4641 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41601984-41602484 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41602485-41602985 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41608279-41608859 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:41612529-41613514 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41614501-41615485 Neighboring gene MyoD family inhibitor

    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_078100.1 

      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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      41544391..41544685
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      41373426..41373720
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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