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    LOC129930386 ATAC-STARR-seq lymphoblastoid active region 921 [ Homo sapiens (human) ]

    Gene ID: 129930386, updated on 12-Sep-2024

    Summary

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    Gene symbol
    LOC129930386
    Gene description
    ATAC-STARR-seq lymphoblastoid active region 921
    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 LOC129930386 in Genome Data Viewer
    Location:
    chromosome: 1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (43664611..43664670)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (43535107..43535166)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (44130282..44130341)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene SZT2 subunit of KICSTOR complex Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 785 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:43937485-43938684 Neighboring gene Sharpr-MPRA regulatory region 4928 Neighboring gene HYI antisense RNA 1 Neighboring gene hydroxypyruvate isomerase (putative) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:43986941-43987441 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 786 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:43997400-43997972 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:43998601-43999102 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:43999103-43999602 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:44000549-44001411 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:44014162-44014968 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:44014969-44015773 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:44022869-44023446 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:44023447-44024024 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:44026337-44026914 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:44030770-44031565 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44038483-44038984 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:44041269-44042129 Neighboring gene protein tyrosine phosphatase receptor type F Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:44040406-44041268 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:44046933-44047754 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 919 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44061284-44061784 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44061785-44062285 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44063935-44064436 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:44086190-44086364 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 788 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:44126130-44126805 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:44125453-44126129 Neighboring gene uncharacterized LOC124904165 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 920 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:44131983-44133182 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:44142744-44142920 Neighboring gene lysine demethylase 4A Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:44172642-44173159 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 790 Neighboring gene ST3GAL3 antisense RNA 1 Neighboring gene uncharacterized LOC124904721 Neighboring gene KDM4A antisense RNA 1 Neighboring gene ST3 beta-galactoside alpha-2,3-sialyltransferase 3

    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_163438.1 

      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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      43664611..43664670
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      43535107..43535166
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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