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LOC126860278 CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:1748222-1749421 [ Homo sapiens (human) ]

Gene ID: 126860278, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126860278
Gene description
CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:1748222-1749421
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 includes enhancers that were validated by the STARR-seq (self-transcribing active regulatory region sequencing) massively parallel reporter assay. In HCT116 colorectal carcinoma cells, a subregion was defined as a group 2 enhancer that depends on the BRD2, BRD4, P300/CBP, MED14 and CDK7 cofactors, with strong dependence on CDK7. Another subregion was also validated as an enhancer by ChIP-STARR-seq in naive and primed human embryonic stem cells, where it associates with the OCT4 and NANOG transcription factors and is marked by the H3K27ac and H3K4me1 histone modifications. [provided by RefSeq, Jan 2023]
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Genomic context

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Location:
chromosome: 8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (1800056..1801750)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (1578182..1579876)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377778 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:1703542-1704741 Neighboring gene CLN8 transmembrane ER and ERGIC protein Neighboring gene CLN8 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 8503 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:1719100-1719280 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:1726288-1727208 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:1731879-1732378 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:1733452-1733574 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:1750577-1751237 Neighboring gene microRNA 3674 Neighboring gene uncharacterized LOC105377779 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:1762347-1762848 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:1762849-1763348 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:1764028-1764696 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:1764697-1765364 Neighboring gene microRNA 596

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-H3K4me1 hESC enhancer GRCh37_chr8:1749255-1749916

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_084779.2 

    Range
    101..1795
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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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    1800056..1801750
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_3

Genomic

  1. NT_187680.1 Reference GRCh38.p14 ALT_REF_LOCI_3

    Range
    212714..214408
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    1578182..1579876
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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