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LOC126806331 MED14-independent group 3 enhancer GRCh37_chr2:119975074-119976273 [ Homo sapiens (human) ]

Gene ID: 126806331, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126806331
Gene description
MED14-independent group 3 enhancer GRCh37_chr2:119975074-119976273
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, where it 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 an enhancer by ChIP-STARR-seq in naive human embryonic stem cells, where it is marked by the H3K27ac and H3K4me1 histone modifications. [provided by RefSeq, Dec 2022]
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Genomic context

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See LOC126806331 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 (119217498..119218697)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (119651025..119652224)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985941 Neighboring gene RNA, 7SL, cytoplasmic 468, pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:119953346-119954184 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:119954185-119955022 Neighboring gene Sharpr-MPRA regulatory region 13360 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11899 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11900 Neighboring gene STEAP3 metalloreductase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16446 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11901 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:119997658-119998174 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:119998175-119998691 Neighboring gene STEAP3 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:120011987-120012930 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:120013256-120014122 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:120016992-120017765 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11902 Neighboring gene uncharacterized LOC105373581

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
  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

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

General gene information

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Other Names

  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:119975644-119976240

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_083950.1 

    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
    119217498..119218697
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    119651025..119652224
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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