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    LOC130008909 ATAC-STARR-seq lymphoblastoid active region 7116 [ Homo sapiens (human) ]

    Gene ID: 130008909, updated on 12-Sep-2024

    Summary

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    Gene symbol
    LOC130008909
    Gene description
    ATAC-STARR-seq lymphoblastoid active region 7116
    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 LOC130008909 in Genome Data Viewer
    Location:
    chromosome: 12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (119682002..119682061)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (119669286..119669345)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (120119807..120119866)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370027 Neighboring gene transmembrane protein 233 Neighboring gene RN7SK pseudogene 197 Neighboring gene GATA motif-containing MPRA enhancer 88 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4930 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7115 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:120106633-120107268 Neighboring gene uncharacterized LOC124903033 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:120115207-120115708 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:120115709-120116208 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:120117012-120118211 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7117 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:120125555-120126425 Neighboring gene protein kinase AMP-activated non-catalytic subunit beta 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:120185956-120187155 Neighboring gene microRNA 1178 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:120192166-120192349 Neighboring gene citron rho-interacting serine/threonine kinase Neighboring gene ReSE screen-validated silencer GRCh37_chr12:120197803-120197989 Neighboring gene NANOG hESC enhancer GRCh37_chr12:120213039-120213640 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:120242131-120242682 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:120306702-120307901 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7118 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4931 Neighboring gene uncharacterized LOC112268087 Neighboring gene ribosomal protein L35a pseudogene 30

    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_187478.1 

      Range
      101..160
      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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      119682002..119682061
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      119669286..119669345
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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