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LOC126859946 CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:13056242-13057441 [ Homo sapiens (human) ]

Gene ID: 126859946, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126859946
Gene description
CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:13056242-13057441
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 naive and 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: 7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (13016617..13017816)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (13147859..13149058)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene RN7SK pseudogene 228 Neighboring gene Sharpr-MPRA regulatory region 14677 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:12963056-12964255 Neighboring gene Sharpr-MPRA regulatory region 12730 Neighboring gene uncharacterized LOC105375158 Neighboring gene Sharpr-MPRA regulatory region 6845 Neighboring gene RBMX2 pseudogene 4 Neighboring gene MPRA-validated peak6391 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25667 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25666 Neighboring gene MPRA-validated peak6392 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr7:13279910-13280411 Neighboring gene uncharacterized LOC107986770 Neighboring gene NANOG hESC enhancer GRCh37_chr7:13346662-13347177 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:13361588-13362292 Neighboring gene VISTA enhancer hs749 Neighboring gene VISTA enhancer hs550 Neighboring gene MPRA-validated peak6396 silencer Neighboring gene MPRA-validated peak6397 silencer Neighboring gene uncharacterized LOC105375161

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_chr7:13056751-13057366

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_084447.1 

    Range
    101..1300
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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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    13016617..13017816
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    13147859..13149058
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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