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    LOC125387271 Sharpr-MPRA regulatory region 14849 [ Homo sapiens (human) ]

    Gene ID: 125387271, updated on 12-Sep-2024

    Summary

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    Gene symbol
    LOC125387271
    Gene description
    Sharpr-MPRA regulatory region 14849
    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 14:Gen5', transcription transition, highly expressed genes towards 5' end). [provided by RefSeq, May 2022]
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    Genomic context

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    See LOC125387271 in Genome Data Viewer
    Location:
    20q
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (41053129..41053423)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (42784825..42785119)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (39681769..39682063)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100128988 Neighboring gene uncharacterized LOC105372621 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:39625651-39626225 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:39631901-39633100 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17884 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17885 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:39657161-39657512 Neighboring gene origin of replication in promoter of TOP1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12912 Neighboring gene RNA, U2 small nuclear 52, pseudogene Neighboring gene DNA topoisomerase I Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:39686360-39687559 Neighboring gene t(11;20)(p15;q11) topoisomerase (DNA) I recombination region Neighboring gene PLCG1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12913 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12914 Neighboring gene translation initiation factor IF-2-like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17886 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17887 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:39764698-39765482 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:39766267-39767051 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17889 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:39774494-39774994 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:39774995-39775495 Neighboring gene phospholipase C gamma 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:39786713-39787233 Neighboring gene microRNA 6871

    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_080947.1 

      Range
      101..395
      Download
      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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      41053129..41053423
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      42784825..42785119
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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