U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC126653335 MED14-independent group 3 enhancer GRCh37_chr21:30206496-30207695 [ Homo sapiens (human) ]

Gene ID: 126653335, updated on 10-Oct-2023

Summary

Go to the top of the page Help
Gene symbol
LOC126653335
Gene description
MED14-independent group 3 enhancer GRCh37_chr21:30206496-30207695
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, Aug 2022]
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
chromosome: 21
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (28834174..28835373)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (27197357..27198556)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 161 Neighboring gene N-6 adenine-specific DNA methyltransferase 1 Neighboring gene Sharpr-MPRA regulatory region 7516 Neighboring gene uncharacterized LOC124905067 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18322 Neighboring gene MPRA-validated peak4395 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:30228725-30229226 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:30229227-30229726 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr21:30256988-30257547 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr21:30257548-30258106 Neighboring gene THUMP domain containing 1 pseudogene 1 Neighboring gene heat shock protein family D (Hsp60) member 1 pseudogene 7

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

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

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_081828.1 

    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_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    28834174..28835373
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    27197357..27198556
    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