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LOC126859570 CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:5998084-5999283 [ Homo sapiens (human) ]

Gene ID: 126859570, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126859570
Gene description
CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:5998084-5999283
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 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: 6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (5997851..5999614)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (5866721..5868483)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986516 Neighboring gene RNA, 7SL, cytoplasmic 221, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:5937911-5938412 Neighboring gene uncharacterized LOC105374898 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:5999848-6000753 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:6003798-6004622 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16878 Neighboring gene pyruvate kinase M1/2 pseudogene 5 Neighboring gene neuritin 1 Neighboring gene MPRA-validated peak5639 silencer Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr6:6169218-6169883 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:6178115-6178614 Neighboring gene coagulation factor XIII A chain Neighboring gene microRNA 7853 Neighboring gene microRNA 5683 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:6218631-6219830 Neighboring gene uncharacterized LOC124901253

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

  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:5998941-5999847

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_084071.2 

    Range
    101..1864
    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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    5997851..5999614
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    5866721..5868483
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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