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    LOC126805611 CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:9657808-9659007 [ Homo sapiens (human) ]

    Gene ID: 126805611, updated on 10-Oct-2023

    Summary

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    Gene symbol
    LOC126805611
    Gene description
    CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:9657808-9659007
    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 in HCT116 colorectal carcinoma cells. This sequence was defined as a group 2 enhancer that depends on the BRD2, BRD4, P300/CBP, MED14 and CDK7 cofactors, with strong dependence on CDK7. [provided by RefSeq, Sep 2022]
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    Genomic context

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    See LOC126805611 in Genome Data Viewer
    Location:
    chromosome: 1
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (9597750..9598949)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (9134049..9135248)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 40 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9533371-9533922 Neighboring gene MPRA-validated peak54 silencer Neighboring gene Sharpr-MPRA regulatory region 9854 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 222 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 129 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9601405-9601904 Neighboring gene solute carrier family 25 member 33 Neighboring gene MPRA-validated peak56 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 224 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 223 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 225 Neighboring gene hESC enhancers GRCh37_chr1:9653469-9654066 and GRCh37_chr1:9654067-9654663 Neighboring gene ribosomal protein L9 pseudogene 11 Neighboring gene transmembrane protein 201 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:9671778-9672013 Neighboring gene uncharacterized LOC124903837 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9675483-9676027 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 130 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 131 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 226 Neighboring gene nonconserved acetylation island sequence 67 enhancer Neighboring gene uncharacterized LOC105376712 Neighboring gene phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta

    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

    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

    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_081935.1 

      Range
      101..1300
      Download
      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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      9597750..9598949
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      9134049..9135248
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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