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LOC126863041 BRD4-independent group 4 enhancer GRCh37_chr20:45529211-45530410 [ Homo sapiens (human) ]

Gene ID: 126863041, updated on 12-Sep-2024

Summary

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Gene symbol
LOC126863041
Gene description
BRD4-independent group 4 enhancer GRCh37_chr20:45529211-45530410
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 4 enhancer that depends on the BRD2, P300/CBP, MED14 and CDK7 cofactors, but it has limited or no dependence on the BRD4 bromodomain protein. [provided by RefSeq, Sep 2022]
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Genomic context

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See LOC126863041 in Genome Data Viewer
Location:
chromosome: 20
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (46900572..46901771)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (48638666..48639865)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (45529211..45530410)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene RN7SK pseudogene 33 Neighboring gene ribosomal protein L13 pseudogene 14 Neighboring gene EYA2 antisense RNA 1 Neighboring gene NANOG hESC enhancer GRCh37_chr20:45548266-45548793 Neighboring gene EYA transcriptional coactivator and phosphatase 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:45572445-45573138 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr20:45573832-45574524 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 54 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:45663821-45664320 Neighboring gene MPRA-validated peak4229 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:45754363-45754876 Neighboring gene ribosomal protein S2 pseudogene 54

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

See Variation Viewer (GRCh37.p13)

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_087538.1 

    Range
    101..1300
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    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    46900572..46901771
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    48638666..48639865
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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