U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC126859799 MED14-independent group 3 enhancer GRCh37_chr6:135570900-135572099 [ Homo sapiens (human) ]

Gene ID: 126859799, updated on 10-Oct-2023

Summary

Go to the top of the page Help
Gene symbol
LOC126859799
Gene description
MED14-independent group 3 enhancer GRCh37_chr6:135570900-135572099
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 includes enhancers that were validated by the STARR-seq (self-transcribing active regulatory region sequencing) massively parallel reporter assay. In HCT116 colorectal carcinoma cells, a subregion 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. Another subregion was also validated as an enhancer by ChIP-STARR-seq in naive human embryonic stem cells, where it associates with the OCT4 and NANOG transcription factors. [provided by RefSeq, Jan 2023]
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
chromosome: 6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (135249762..135251266)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (136438015..136439519)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378011 Neighboring gene MYB proto-oncogene, transcription factor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25103 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25104 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:135573042-135573542 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:135573543-135574043 Neighboring gene microRNA 548a-2 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:135577907-135579106 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:135585007-135585209 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:135591948-135592842 Neighboring gene VISTA enhancer hs1351 Neighboring gene Abelson helper integration site 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25105 Neighboring gene CRISPRi-validated MYB cis-regulatory element XLOC_042889 Neighboring gene uncharacterized LOC124901407 Neighboring gene Sharpr-MPRA regulatory region 12318 Neighboring gene beta-transducin repeat containing E3 ubiquitin protein ligase pseudogene 1

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the pageHelp

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
  2. Functional Dissection of the Enhancer Repertoire in Human Embryonic Stem Cells. Barakat TS, et al. Cell Stem Cell, 2018 Aug 2. PMID 30033119, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

General gene information

Go to the top of the page Help

Other Names

  • OCT4-NANOG hESC enhancer GRCh37_chr6:135571892-135572404

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_084300.2 

    Range
    101..1605
    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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    135249762..135251266
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    136438015..136439519
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Molecular Biology Databases