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    LOC126860945 BRD4-independent group 4 enhancer GRCh37_chr10:64414839-64416038 [ Homo sapiens (human) ]

    Gene ID: 126860945, updated on 10-Oct-2023

    Summary

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    Gene symbol
    LOC126860945
    Gene description
    BRD4-independent group 4 enhancer GRCh37_chr10:64414839-64416038
    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 region was validated as an active enhancer by the STARR-seq (self-transcribing active regulatory region sequencing) massively parallel reporter assay (MPRA) in HCT116 colorectal carcinoma cells, where it was defined as a group 4 enhancer that depends on the BRD2, P300/CBP, MED14 and CDK7 cofactors, but it has limited or no dependence on the BRD4 bromodomain protein. This locus also includes three accessible chromatin subregions that were validated as enhancers based on their 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) MPRA in GM12878 lymphoblastoid cells. Another subregion containing a Neanderthal adaptively introgressed genetic variant was also validated as an enhancer by MPRAs in K562 erythroleukemia cells, with activity observed for both the introgressed and non-introgressed 10:64415184 variant alleles. [provided by RefSeq, Sep 2023]
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    Genomic context

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    See LOC126860945 in Genome Data Viewer
    Location:
    chromosome: 10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (62655079..62656278)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (63512904..63514103)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC283045 Neighboring gene RNA, 7SL, cytoplasmic 591, pseudogene Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:64143375-64144574 Neighboring gene zinc finger protein 365 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3416 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:64224563-64225064 Neighboring gene NANOG hESC enhancer GRCh37_chr10:64242262-64242794 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_13640 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3417 Neighboring gene uncharacterized LOC105378327 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3418 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3419 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3420 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3421 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3422 Neighboring gene talanin Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_13669 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_13680 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3423 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2398 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3424 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_13703 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_13720/13722 and experimental_13723 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:64437081-64437582 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:64437583-64438082 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3428 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_13731 Neighboring gene aldehyde dehydrogenase 7 family member A1 pseudogene 4 Neighboring gene uncharacterized LOC124902437

    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. Differential cofactor dependencies define distinct types of human enhancers. Neumayr C, et al. Nature, 2022 Jun. PMID 35650434, Free PMC Article
    2. ATAC-STARR-seq reveals transcription factor-bound activators and silencers across the chromatin accessible human genome. Hansen TJ, et al. Genome Res, 2022 Jul 20. 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

    General gene information

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    Other Names

    • ATAC-STARR-seq lymphoblastoid active region 3425
    • ATAC-STARR-seq lymphoblastoid active region 3426
    • ATAC-STARR-seq lymphoblastoid active region 3427
    • Neanderthal introgressed variant-containing enhancer experimental_13694

    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_085444.1 

      Range
      101..1300
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      GenBank, FASTA, Sequence Viewer (Graphics)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      62655079..62656278
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      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      63512904..63514103
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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