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    LOC125371539 Sharpr-MPRA regulatory region 13246 [ Homo sapiens (human) ]

    Gene ID: 125371539, updated on 12-Sep-2024

    Summary

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    Gene symbol
    LOC125371539
    Gene description
    Sharpr-MPRA regulatory region 13246
    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 10:DNaseD, primarily Duke DNase, candidate regulatory elements in more likely repressive locations). [provided by RefSeq, May 2022]
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    Genomic context

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    See LOC125371539 in Genome Data Viewer
    Location:
    19q
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (47518212..47518506)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (50349016..50349310)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (48021469..48021763)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene hESC enhancers GRCh37_chr19:47931091-47931659 and GRCh37_chr19:47931660-47932227 Neighboring gene Sharpr-MPRA regulatory region 169 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:47939851-47940352 Neighboring gene solute carrier family 8 member A2 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:47945299-47945446 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10853 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:47949904-47950829 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:47971701-47972200 Neighboring gene Sharpr-MPRA regulatory region 3844 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14865 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14866 Neighboring gene kaptin, actin binding protein Neighboring gene NAPA antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48003933-48004487 Neighboring gene NSF attachment protein alpha Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10855 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14867 Neighboring gene zinc finger protein 541 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14868 Neighboring gene RNA, 7SL, cytoplasmic 322, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    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_080840.1 

      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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      47518212..47518506
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      50349016..50349310
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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