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LOC126861639 CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:111290753-111291952 [ Homo sapiens (human) ]

Gene ID: 126861639, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126861639
Gene description
CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:111290753-111291952
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 LOC126861639 in Genome Data Viewer
Location:
chromosome: 12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (110852949..110854148)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (110830759..110831958)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene protein phosphatase 1 catalytic subunit gamma Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:111180421-111180929 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:111181691-111182275 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7027 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:111218408-111218569 Neighboring gene CRISPRi-validated cis-regulatory element chr12.3641 Neighboring gene NANOG hESC enhancer GRCh37_chr12:111246997-111247498 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:111251419-111251918 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4864 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7028 Neighboring gene ribosomal protein L29 pseudogene 25 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:111298099-111298599 Neighboring gene coiled-coil domain containing 63 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:111355215-111355716 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:111355717-111356216 Neighboring gene VISTA enhancer hs2149 Neighboring gene VISTA enhancer hs2493 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:111373669-111374362 Neighboring gene Sharpr-MPRA regulatory region 3484 Neighboring gene myosin light chain 2 Neighboring gene long intergenic non-protein coding RNA 1405

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_086137.1 

    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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    110852949..110854148
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    110830759..110831958
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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