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LOC126863218 MED14-independent group 3 enhancer GRCh37_chrX:19643274-19644473 [ Homo sapiens (human) ]

Gene ID: 126863218, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126863218
Gene description
MED14-independent group 3 enhancer GRCh37_chrX:19643274-19644473
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 (19625156..19626355)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (19208070..19209269)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:19391289-19392229 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29463 Neighboring gene mitogen-activated protein kinase kinase kinase 15 Neighboring gene pyruvate dehydrogenase E1 subunit alpha 1 Neighboring gene eukaryotic translation initiation factor 5 pseudogene 2 Neighboring gene SH3 domain containing kinase binding protein 1 Neighboring gene uncharacterized LOC124905255 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:19740595-19741095 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29464 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29465 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29466 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29467 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20687 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20688 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:19820680-19821600 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29468 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20689 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29469 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29470 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:19880674-19881280 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29471 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29472 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29473 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29474 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29475 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20690 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20691 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20692 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29476 Neighboring gene uncharacterized LOC124905256 Neighboring gene BCLAF1 and THRAP3 family member 3

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_087714.1 

    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
    19625156..19626355
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    19208070..19209269
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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