U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC112543420 MED14-independent group 3 enhancer GRCh37_chr18:3652584-3653783 [ Homo sapiens (human) ]

Gene ID: 112543420, updated on 10-Oct-2023

Summary

Go to the top of the page Help
Gene symbol
LOC112543420
Gene description
MED14-independent group 3 enhancer GRCh37_chr18:3652584-3653783
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 sequence was predicted to be a transcriptional regulatory region based on chromatin state analysis from the ENCODE (ENCyclopedia Of DNA Elements) project. It 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. A subregion was also validated as a functional enhancer by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in both HepG2 liver carcinoma cells (group: HepG2 Activating DNase matched - State 5:Enh, candidate strong enhancer, open chromatin) and K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 5:Enh). [provided by RefSeq, Aug 2022]
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See LOC112543420 in Genome Data Viewer
Location:
18p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (3652584..3653783)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (3813042..3814241)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (3652829..3653123)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene DLG associated protein 1 Neighboring gene Sharpr-MPRA regulatory region 8249 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:3595284-3596254 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:3596255-3597226 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:3601961-3602755 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:3603326-3604525 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13052 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13053 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:3610951-3611462 Neighboring gene DLGAP1 antisense RNA 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:3623835-3625034 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:3625199-3625770 Neighboring gene DLGAP1 antisense RNA 2 Neighboring gene uncharacterized LOC105371967 Neighboring gene Sharpr-MPRA regulatory region 6172 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9258 Neighboring gene small nucleolar RNA U13 Neighboring gene NANOG hESC enhancer GRCh37_chr18:3821582-3822083 Neighboring gene uncharacterized LOC124904238 Neighboring gene DLGAP1 antisense RNA 3 Neighboring gene microRNA 6718

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. Genome-scale high-resolution mapping of activating and repressive nucleotides in regulatory regions. Ernst J, et al. Nat Biotechnol, 2016 Nov. PMID 27701403, 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

See Variation Viewer (GRCh37.p13)

General gene information

Go to the top of the page Help

Other Names

  • Sharpr-MPRA regulatory region 10669

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_057371.2 

    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_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    3652584..3653783
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    3813042..3814241
    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