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LOC126862747 CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:47626164-47627363 [ Homo sapiens (human) ]

Gene ID: 126862747, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126862747
Gene description
CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:47626164-47627363
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 (MPRA) 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. 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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See LOC126862747 in Genome Data Viewer
Location:
chromosome: 18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (50099794..50100993)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (50301532..50302731)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene myosin VB Neighboring gene uncharacterized LOC124904299 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:47500397-47500898 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:47500899-47501398 Neighboring gene NANOG hESC enhancer GRCh37_chr18:47600579-47601125 Neighboring gene Sharpr-MPRA regulatory region 3103 Neighboring gene adenosine deaminase domain containing 1 pseudogene 2 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:47653727-47654926 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9452 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13312 Neighboring gene microRNA 4320 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9453 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9454 Neighboring gene RNA, 7SL, cytoplasmic 310, pseudogene

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

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 13311

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_087244.1 

    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_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    50099794..50100993
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    50301532..50302731
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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