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    LOC126861627 CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:108029159-108030358 [ Homo sapiens (human) ]

    Gene ID: 126861627, updated on 12-Sep-2024

    Summary

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    Gene symbol
    LOC126861627
    Gene description
    CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:108029159-108030358
    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 LOC126861627 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 (107635382..107636581)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (107598866..107600064)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (108029159..108030358)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ankyrin repeat and BTB domain containing 3 Neighboring gene small nucleolar RNA SNORD74 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:107779003-107779548 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:107829935-107830435 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6952 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6953 Neighboring gene NANOG hESC enhancer GRCh37_chr12:107889636-107890174 Neighboring gene RNA, 5S ribosomal pseudogene 371 Neighboring gene Sharpr-MPRA regulatory region 1299 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:107931717-107932281 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr12:108003556-108004056 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:108011603-108012104 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:108012105-108012604 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:108025204-108026403 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:108054007-108054507 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:108076698-108076955 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6954 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6955 Neighboring gene uncharacterized LOC124903010 Neighboring gene PWP1 homolog, endonuclein Neighboring gene ribosomal protein L17 pseudogene 38

    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

    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_086125.1 

      Range
      101..1300
      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
      107635382..107636581
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      107598866..107600064
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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