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LOC126806441 MED14-independent group 3 enhancer GRCh37_chr2:182819339-182820538 [ Homo sapiens (human) ]

Gene ID: 126806441, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126806441
Gene description
MED14-independent group 3 enhancer GRCh37_chr2:182819339-182820538
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 LOC126806441 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 (181954612..181955811)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (182444398..182445597)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene RNA, U6atac small nuclear 19, pseudogene Neighboring gene Sharpr-MPRA regulatory region 14896 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:182655450-182656649 Neighboring gene Sharpr-MPRA regulatory region 14191 Neighboring gene MPRA-validated peak3961 silencer Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:182740630-182741829 Neighboring gene Sharpr-MPRA regulatory region 15031 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12159 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12160 Neighboring gene ITPR interacting domain containing 2 Neighboring gene MPRA-validated peak3962 silencer Neighboring gene MPRA-validated peak3963 silencer Neighboring gene MPRA-validated peak3964 silencer Neighboring gene protein phosphatase 1 regulatory inhibitor subunit 1C Neighboring gene keratin 18 pseudogene 29 Neighboring gene RNA, 5S ribosomal pseudogene 113

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_082761.1 

    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
    181954612..181955811
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    182444398..182445597
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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