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    LOC130001513 ATAC-STARR-seq lymphoblastoid active region 28173 [ Homo sapiens (human) ]

    Gene ID: 130001513, updated on 12-Sep-2024

    Summary

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    Gene symbol
    LOC130001513
    Gene description
    ATAC-STARR-seq lymphoblastoid active region 28173
    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 LOC130001513 in Genome Data Viewer
    Location:
    chromosome: 9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (5594152..5594271)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (5599272..5599391)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (5594152..5594271)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28161 Neighboring gene uncharacterized LOC124902114 Neighboring gene Sharpr-MPRA regulatory region 9164 Neighboring gene OCT4 hESC enhancer GRCh37_chr9:5482138-5482639 Neighboring gene CD274 molecule Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28163 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28164 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28165 Neighboring gene Sharpr-MPRA regulatory region 6415 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:5501887-5502388 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:5509079-5510278 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28167 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28168 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28169 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28170 Neighboring gene programmed cell death 1 ligand 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19753 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28171 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28172 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28174 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28175 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19754 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:5629427-5629927 Neighboring gene RIC1 homolog, RAB6A GEF complex partner 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28176 Neighboring gene uncharacterized LOC124902115 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:5762408-5763607 Neighboring gene endoplasmic reticulum metallopeptidase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19755 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19756 Neighboring gene Sharpr-MPRA regulatory region 2314 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28177 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28178 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28179 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19757 Neighboring gene adenylate kinase 4 pseudogene 4

    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_180959.1 

      Range
      101..220
      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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      5594152..5594271
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      5599272..5599391
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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