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LOC126806347 MED14-independent group 3 enhancer GRCh37_chr2:130403207-130404406 [ Homo sapiens (human) ]

Gene ID: 126806347, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126806347
Gene description
MED14-independent group 3 enhancer GRCh37_chr2:130403207-130404406
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 (129645634..129646833)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (130073893..130075152)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene peptidylprolyl isomerase A pseudogene 65 Neighboring gene uncharacterized LOC105373614 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:130376971-130377501 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:130467533-130468478 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:130468479-130469423 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:130499126-130499322 Neighboring gene uncharacterized LOC124907889 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:130501931-130502432 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:130502433-130502932 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:130505293-130505905 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:130515244-130515865 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:130515866-130516488 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:130539341-130540152 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:130540153-130540964 Neighboring gene uncharacterized LOC107985945

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_082667.1 

    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
    129645634..129646833
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    130073893..130075152
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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