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LOC126806401 MED14-independent group 3 enhancer GRCh37_chr2:170809766-170810965 [ Homo sapiens (human) ]

Gene ID: 126806401, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126806401
Gene description
MED14-independent group 3 enhancer GRCh37_chr2:170809766-170810965
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 LOC126806401 in Genome Data Viewer
Location:
chromosome: 2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (169953256..169954455)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (170430723..170431922)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:170655164-170655664 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12086 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:170681961-170682164 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12087 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12088 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:170685725-170686226 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:170686227-170686726 Neighboring gene small RNA binding exonuclease protection factor La Neighboring gene small nucleolar RNA, C/D box 3K Neighboring gene methyltransferase 5, N6-adenosine Neighboring gene ReSE screen-validated silencer GRCh37_chr2:170696663-170696887 Neighboring gene ubiquitin protein ligase E3 component n-recognin 3 Neighboring gene Sharpr-MPRA regulatory region 15130 Neighboring gene VISTA enhancer hs1867 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:170934286-170935065 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:170947905-170948472 Neighboring gene NSA2 pseudogene 5 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:170962392-170962892 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:170962893-170963393 Neighboring gene RNA, U6 small nuclear 1006, 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_082721.1 

    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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    169953256..169954455
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    170430723..170431922
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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