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LOC126807147 CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:123541308-123542507 [ Homo sapiens (human) ]

Gene ID: 126807147, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126807147
Gene description
CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:123541308-123542507
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. This sequence was defined as a group 2 enhancer that depends on the BRD2, BRD4, P300/CBP, MED14 and CDK7 cofactors, with strong dependence on CDK7. [provided by RefSeq, Sep 2022]
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Genomic context

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See LOC126807147 in Genome Data Viewer
Location:
chromosome: 4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (122620153..122621352)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (125924255..125925454)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene adenosine deaminase domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21874 Neighboring gene Sharpr-MPRA regulatory region 4201 Neighboring gene interleukin 2 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:123495468-123496667 Neighboring gene IL21 antisense RNA 1 Neighboring gene interleukin 21 Neighboring gene Sharpr-MPRA regulatory region 12847 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15665 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21875 Neighboring gene Bardet-Biedl syndrome 12 Neighboring gene DNA damage regulated autophagy modulator 1 pseudogene Neighboring gene centrin 4, 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

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

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_083468.1 

    Range
    101..1300
    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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    122620153..122621352
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    125924255..125925454
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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