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LOC126863233 MED14-independent group 3 enhancer GRCh37_chrX:27480372-27481571 [ Homo sapiens (human) ]

Gene ID: 126863233, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126863233
Gene description
MED14-independent group 3 enhancer GRCh37_chrX:27480372-27481571
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 (27462255..27463454)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (27052583..27053782)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373150 Neighboring gene AMZ2 pseudogene 3 Neighboring gene Sharpr-MPRA regulatory region 13349 Neighboring gene PTP4A1 pseudogene 5 Neighboring gene NANOG hESC enhancer GRCh37_chrX:27488313-27488871 Neighboring gene protein phosphatase 4 regulatory subunit 3C Neighboring gene DDB1 and CUL4 associated factor 8 like 2 Neighboring gene radixin pseudogene 2 Neighboring gene RDX pseudogene 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:27818821-27819333 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:27819334-27819845 Neighboring gene MAGE family member B18 pseudogene Neighboring gene MAGE family member B10

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_087729.1 

    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_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    27462255..27463454
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    27052583..27053782
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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