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LOC126862739 MED14-independent group 3 enhancer GRCh37_chr18:44447848-44449047 [ Homo sapiens (human) ]

Gene ID: 126862739, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126862739
Gene description
MED14-independent group 3 enhancer GRCh37_chr18:44447848-44449047
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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See LOC126862739 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 (46867885..46869084)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (47058547..47059746)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9420 Neighboring gene ST8SIA5 divergent transcript Neighboring gene NANOG hESC enhancer GRCh37_chr18:44374579-44375080 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13281 Neighboring gene protein inhibitor of activated STAT 2 Neighboring gene ubiquitin specific peptidase 4 (proto-oncogene) pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13282 Neighboring gene uncharacterized LOC124904294 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:44479065-44479890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:44490867-44491368 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:44491369-44491868 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr18:44496866-44497619 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:44499127-44499879 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9423 Neighboring gene katanin catalytic subunit A1 like 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:44546997-44547496 Neighboring gene elongin A3 family member D, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:44552405-44553168 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:44553169-44553932 Neighboring gene elongin A3 family member B, 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_087236.1 

    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_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    46867885..46869084
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    47058547..47059746
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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