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LOC126806395 MED14-independent group 3 enhancer GRCh37_chr2:164809702-164810901 [ Homo sapiens (human) ]

Gene ID: 126806395, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126806395
Gene description
MED14-independent group 3 enhancer GRCh37_chr2:164809702-164810901
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: 2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (163953192..163954391)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (164410449..164411648)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985829 Neighboring gene uncharacterized LOC105373728 Neighboring gene VISTA enhancer hs170 Neighboring gene NANOG hESC enhancer GRCh37_chr2:164478034-164478535 Neighboring gene Sharpr-MPRA regulatory region 10417 Neighboring gene uncharacterized LOC107985957 Neighboring gene fidgetin, microtubule severing factor Neighboring gene VISTA enhancer hs640 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:164593125-164593641 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:164593642-164594157 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:164627636-164628835 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:164765722-164766240 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:164766241-164766758 Neighboring gene VISTA enhancer hs421 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16723 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16724 Neighboring gene Sharpr-MPRA regulatory region 13497 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:165027147-165027366 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16725 Neighboring gene phosphoribosyl pyrophosphate synthetase 1 pseudogene 1 Neighboring gene cytochrome P450 family 2 subfamily C member 56, 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_082715.1 

    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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    163953192..163954391
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    164410449..164411648
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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