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    LOC130058634 ATAC-STARR-seq lymphoblastoid active region 10567 [ Homo sapiens (human) ]

    Gene ID: 130058634, updated on 12-Sep-2024

    Summary

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    Gene symbol
    LOC130058634
    Gene description
    ATAC-STARR-seq lymphoblastoid active region 10567
    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 LOC130058634 in Genome Data Viewer
    Location:
    chromosome: 16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (22191067..22191146)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (22026068..22026147, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (22202388..22202467)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene modulator of smoothened Neighboring gene von Willebrand factor A domain containing 3A Neighboring gene uncharacterized LOC124903666 Neighboring gene short chain dehydrogenase/reductase family 42E, member 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:22196551-22197050 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7260 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:22201633-22202132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10568 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10569 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7263 Neighboring gene tRNA-Leu (anticodon TAG) 3-1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7264 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7265 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:22221261-22221761 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_43156 Neighboring gene GATA motif-containing MPRA enhancer 198 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:22229709-22230208 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:22237029-22237652 Neighboring gene eukaryotic elongation factor 2 kinase Neighboring gene Sharpr-MPRA regulatory region 4253

    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_193055.1 

      Range
      101..180
      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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      22191067..22191146
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_017852933.1 Reference GRCh38.p14 PATCHES

      Range
      913893..913972 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      22026068..22026147 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

    Gene LinkOut

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    Molecular Biology Databases