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    LOC113748413 Sharpr-MPRA regulatory region 5015 [ Homo sapiens (human) ]

    Gene ID: 113748413, updated on 10-Dec-2024

    Summary

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    Gene symbol
    LOC113748413
    Gene description
    Sharpr-MPRA regulatory region 5015
    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 unmatched - State 10:DNaseD, primarily Duke DNase/promoter, candidate regulatory elements in more likely repressive locations) and K562 erythroleukemia cells (group: K562 Activating DNase matched - State 8:EnhW, candidate weak enhancer and open chromatin). [provided by RefSeq, Dec 2018]
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    Genomic context

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    See LOC113748413 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 (76191871..76192165)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (77479345..77479639)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (75821189..75821483)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901674 Neighboring gene GTF2I repeat domain containing 1 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75814843-75815508 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:75826515-75827312 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18306 Neighboring gene serine/arginine repetitive matrix 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:75852108-75852608 Neighboring gene NANOG hESC enhancer GRCh37_chr7:75853947-75854451 Neighboring gene MPRA-validated peak6610 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26193 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18307 Neighboring gene uncharacterized LOC124901679 Neighboring gene MPRA-validated peak6611 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr7:75884084-75884282 Neighboring gene Sharpr-MPRA regulatory region 1121 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18308 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:75890756-75891279 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:75896022-75896767 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26194 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26195 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18310 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75919557-75920072 Neighboring gene CRISPRi-validated cis-regulatory element chr7.2946 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26197 Neighboring gene Sharpr-MPRA regulatory region 11180 Neighboring gene heat shock protein family B (small) member 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. The DNA sequence of human chromosome 7. Hillier LW, et al. Nature, 2003 Jul 10. PMID 12853948
    2. 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_062524.1 

      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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      76191871..76192165
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      77479345..77479639
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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