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    LOC126653371 BRD4-independent group 4 enhancer GRCh37_chr21:40203265-40204464 [ Homo sapiens (human) ]

    Gene ID: 126653371, updated on 10-Oct-2023

    Summary

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    Gene symbol
    LOC126653371
    Gene description
    BRD4-independent group 4 enhancer GRCh37_chr21:40203265-40204464
    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 an accessible chromatin subregion 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) MPRA in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
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    Genomic context

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    See LOC126653371 in Genome Data Viewer
    Location:
    chromosome: 21
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (38831341..38832540)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (37215097..37216296)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985480 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr21:40159061-40160260 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:40176652-40177152 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13312 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13313 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13314 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13316 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13315 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr21:40182837-40184036 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:40185951-40187150 Neighboring gene ETS proto-oncogene 2, transcription factor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:40194325-40194862 Neighboring gene uncharacterized LOC101928398 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13317 Neighboring gene ETS2 antisense RNA 1 Neighboring gene ribosomal protein SA pseudogene 64

    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 18463

    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_081864.1 

      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_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      38831341..38832540
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      37215097..37216296
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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