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LOC126807248 CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:186760070-186761269 [ Homo sapiens (human) ]

Gene ID: 126807248, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126807248
Gene description
CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:186760070-186761269
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, where it was defined as a group 2 enhancer that depends on the BRD2, BRD4, P300/CBP, MED14 and CDK7 cofactors, with strong dependence on CDK7. A subregion was also validated as an enhancer by ChIP-STARR-seq in primed human embryonic stem cells, where it associates with the OCT4 and NANOG transcription factors and is marked by the H3K27ac histone modification. [provided by RefSeq, Dec 2022]
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Genomic context

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Location:
chromosome: 4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (185838916..185840115)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (189179858..189181057)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:186423455-186423954 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:186434842-186436041 Neighboring gene PDZ and LIM domain 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:186480278-186481124 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:186481125-186481969 Neighboring gene VISTA enhancer hs2502 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:186508176-186509375 Neighboring gene SORBS2 antisense RNA 1 Neighboring gene sorbin and SH3 domain containing 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:186559524-186560163 Neighboring gene Sharpr-MPRA regulatory region 2405 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:186633271-186633806 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:186650535-186650732 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:186658253-186658822 Neighboring gene Sharpr-MPRA regulatory region 123 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:186717334-186717850 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:186717851-186718366 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:186742039-186742866 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:186784850-186784952 Neighboring gene uncharacterized LOC101928929 Neighboring gene small nucleolar RNA U13

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. Functional Dissection of the Enhancer Repertoire in Human Embryonic Stem Cells. Barakat TS, et al. Cell Stem Cell, 2018 Aug 2. PMID 30033119, 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

  • OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:186760326-186760997

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_083569.1 

    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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    185838916..185840115
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    189179858..189181057
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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