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LOC126863318 MED14-independent group 3 enhancer GRCh37_chrX:130218349-130219548 [ Homo sapiens (human) ]

Gene ID: 126863318, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126863318
Gene description
MED14-independent group 3 enhancer GRCh37_chrX:130218349-130219548
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: X
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (131084375..131085574)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (129404162..129405361)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ecto-NOX disulfide-thiol exchanger 2 Neighboring gene uncharacterized LOC124905217 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29945 Neighboring gene H3K27ac hESC enhancers GRCh37_chrX:130036549-130037068 and GRCh37_chrX:130037069-130037588 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29948 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:130093191-130093716 Neighboring gene long intergenic non-protein coding RNA 1201 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:130191672-130192325 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:130192326-130192978 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:130206444-130207164 Neighboring gene Rho GTPase activating protein 36 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chrX:130262358-130262858 Neighboring gene RNA, 7SL, cytoplasmic 191, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:130291947-130292676 Neighboring gene olfactory receptor family 11 subfamily Q member 1 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_087814.1 

    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_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    131084375..131085574
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    129404162..129405361
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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