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LOC126861868 CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:113526644-113527843 [ Homo sapiens (human) ]

Gene ID: 126861868, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126861868
Gene description
CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:113526644-113527843
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 (MPRA). The major subregion had activity 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. Two subregions were also shown to be active enhancers by ChIP-STARR-seq in human embryonic stem cells, where both are associated with the NANOG transcription factor and are marked by the H3K27ac histone modification. This locus also includes an accessible chromatin subregion that was validated as an enhancer based on its ability to activate an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) MPRA in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
Annotation information
Note: This locus has been reviewed for its involvement in coronavirus biology, and is regulatory element in the vicinity of coronavirus related gene(s).
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Genomic context

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Location:
chromosome: 13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (112872330..112873670)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (112121500..112123647)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene ATPase phospholipid transporting 11A Neighboring gene uncharacterized LOC124903253 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113430716-113431329 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:113432945-113433094 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113434144-113435009 Neighboring gene uncharacterized LOC124903252 Neighboring gene NANOG hESC enhancer GRCh37_chr13:113444396-113445115 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8034 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8035 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113460948-113461629 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113462993-113463672 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113505150-113505650 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:113529546-113529735 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 13:113533651 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 13:113534907 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 13:113536132 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 13:113537448 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 13:113539894 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113540393-113540968 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 13:113543499 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113546091-113546840 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113552283-113552788 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113556232-113557108 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113557109-113557983 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113559740-113560614 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113560615-113561488 Neighboring gene uncharacterized LOC124903214 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113583655-113584497 Neighboring gene MCF.2 cell line derived transforming sequence like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5536 Neighboring gene Sharpr-MPRA regulatory region 2656 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113607452-113608169 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113610492-113611232 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113611233-113611972 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113611973-113612713 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113615435-113616158 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113617605-113618326 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113622683-113623202 Neighboring gene MCF2L antisense RNA 1

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. ATAC-STARR-seq reveals transcription factor-bound activators and silencers across the chromatin accessible human genome. Hansen TJ, et al. Genome Res, 2022 Jul 20. PMID 35858748, Free PMC Article
  3. 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

  • ATAC-STARR-seq lymphoblastoid active region 8036
  • NANOG-H3K27ac hESC enhancer GRCh37_chr13:113526983-113527484
  • NANOG-H3K27ac hESC enhancer GRCh37_chr13:113527485-113527984

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_086366.2 

    Range
    101..1441
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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_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    112872330..112873670
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    112121500..112123647
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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