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LOC126860081 MED14-independent group 3 enhancer GRCh37_chr7:80163190-80164389 [ Homo sapiens (human) ]

Gene ID: 126860081, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126860081
Gene description
MED14-independent group 3 enhancer GRCh37_chr7:80163190-80164389
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 3 enhancer that depends on the BRD2, BRD4, P300/CBP and CDK7 cofactors, but it has limited or no dependence on the MED14 core Mediator complex subunit. [provided by RefSeq, Sep 2022]
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Genomic context

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Location:
chromosome: 7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (80533874..80535073)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (81785155..81786354)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene small nuclear ribonucleoprotein polypeptides B and B1 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 1340 Neighboring gene uncharacterized LOC107986812 Neighboring gene G protein subunit alpha transducin 3 Neighboring gene uncharacterized LOC124901685 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:80157849-80158348 Neighboring gene NANOG hESC enhancer GRCh37_chr7:80162485-80162986 Neighboring gene CD36 molecule (CD36 blood group) Neighboring gene Sharpr-MPRA regulatory region 7331 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_100118 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:80393335-80394071 Neighboring gene semaphorin 3C Neighboring gene uncharacterized LOC124901686

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_084582.1 

    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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    80533874..80535073
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    81785155..81786354
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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