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    LOC129993885 ATAC-STARR-seq lymphoblastoid active region 22547 [ Homo sapiens (human) ]

    Gene ID: 129993885, updated on 12-Sep-2024

    Summary

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    Gene symbol
    LOC129993885
    Gene description
    ATAC-STARR-seq lymphoblastoid active region 22547
    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 represents an accessible chromatin region that was validated as an enhancer based on its ability to activate an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) massively parallel reporter assay (MPRA) in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
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    Genomic context

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    See LOC129993885 in Genome Data Viewer
    Location:
    chromosome: 5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (53560541..53561040)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (54388388..54388887)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (52856371..52856870)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 15081 Neighboring gene Sharpr-MPRA regulatory region 5487 Neighboring gene ribosomal protein S19 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22546 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:52786330-52787529 Neighboring gene follistatin Neighboring gene NANOG hESC enhancer GRCh37_chr5:52840750-52841391 Neighboring gene NADH:ubiquinone oxidoreductase subunit S4 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:52966977-52967961 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:53007961-53008462 Neighboring gene uncharacterized LOC124900975 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16007 Neighboring gene long intergenic non-protein coding RNA 2105 Neighboring gene MPRA-validated peak5241 silencer

    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. ATAC-STARR-seq reveals transcription factor-bound activators and silencers within chromatin-accessible regions of the human genome. Hansen TJ, et al. Genome Res, 2022 Aug 25. PMID 35858748, 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_173331.1 

      Range
      101..600
      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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      53560541..53561040
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      54388388..54388887
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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