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    LOC121175353 Sharpr-MPRA regulatory region 1952 [ Homo sapiens (human) ]

    Gene ID: 121175353, updated on 12-Sep-2024

    Summary

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    Gene symbol
    LOC121175353
    Gene description
    Sharpr-MPRA regulatory region 1952
    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 K562 erythroleukemia cells (group: K562 Activating non-DNase unmatched - State 25:Art, potential CNV or repetitive artifacts). [provided by RefSeq, Apr 2021]
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    Genomic context

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    See LOC121175353 in Genome Data Viewer
    Location:
    7q
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (100091426..100091720)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (101331272..101331566)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (99689049..99689343)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18412 Neighboring gene zinc finger with KRAB and SCAN domains 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:99634953-99635454 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:99635455-99635954 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:99647299-99647918 Neighboring gene zinc finger and SCAN domain containing 21 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26333 Neighboring gene Sharpr-MPRA regulatory region 7718 Neighboring gene zinc finger protein 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26334 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:99679591-99680572 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:99684712-99685405 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18414 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:99686990-99688189 Neighboring gene COP9 signalosome subunit 6 Neighboring gene microRNA 25 Neighboring gene microRNA 93 Neighboring gene minichromosome maintenance complex component 7

    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_074285.1 

      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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      100091426..100091720
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      101331272..101331566
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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