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LOC126806845 CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:150263870-150265069 [ Homo sapiens (human) ]

Gene ID: 126806845, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126806845
Gene description
CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:150263870-150265069
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). 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 human embryonic stem cells, where it associates with the NANOG transcription factor and is marked by the H3K27ac and H3K4me1 histone modifications. 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]
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Genomic context

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Location:
chromosome: 3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (150546007..150547282)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (153297262..153298537)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986141 Neighboring gene uncharacterized LOC107986142 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:150087822-150088690 Neighboring gene Sharpr-MPRA regulatory region 6181 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20684 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_65240 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20685 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14814 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20686 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14815 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:150127902-150128781 Neighboring gene TSC22 domain family member 2 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_65259 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:150187015-150187515 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:150232752-150232908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:150237884-150238384 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:150238385-150238885 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:150252356-150252475 Neighboring gene uncharacterized LOC124900547 Neighboring gene stress associated endoplasmic reticulum protein 1 Neighboring gene eukaryotic translation initiation factor 2A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20688 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20689 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20690 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20691 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:150321219-150321992 Neighboring gene selenoprotein T Neighboring gene SAP30 pseudogene 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 20687
  • NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:150263794-150264424

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_083165.2 

    Range
    101..1376
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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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    150546007..150547282
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    153297262..153298537
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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