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LOC126807242 MED14-independent group 3 enhancer GRCh37_chr4:185339175-185340374 [ Homo sapiens (human) ]

Gene ID: 126807242, updated on 27-Aug-2024

Summary

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Gene symbol
LOC126807242
Gene description
MED14-independent group 3 enhancer GRCh37_chr4:185339175-185340374
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 an enhancer that was validated by the STARR-seq (self-transcribing active regulatory region sequencing) massively parallel reporter assay (MPRA) 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. This locus also includes an accessible chromatin subregion that was validated as an enhancer based on its ability to activate an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) MPRA in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
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Genomic context

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Location:
chromosome: 4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (184417843..184419220)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (187761658..187763035)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15835 Neighboring gene Sharpr-MPRA regulatory region 724 Neighboring gene long intergenic non-protein coding RNA 2363 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22213 Neighboring gene long intergenic non-protein coding RNA 2362 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22214 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:185304232-185305431 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:185307527-185308285 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:185310291-185311024 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:185311025-185311758 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:185314606-185314781 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22215 Neighboring gene interferon regulatory factor 2 Neighboring gene Sharpr-MPRA regulatory region 12125 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22216 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:185351299-185351950 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:185351951-185352602 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22218 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22219 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22220 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15836 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15837 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15838 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15839 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22221 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22222 Neighboring gene IRF2 divergent transcript Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:185424979-185426178 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22225 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22226 Neighboring gene long intergenic non-protein coding RNA 2427 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22227 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22228 Neighboring gene NANOG hESC enhancer GRCh37_chr4:185450344-185450869 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22229

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. ATAC-STARR-seq reveals transcription factor-bound activators and silencers within chromatin-accessible regions of the human genome. Hansen TJ, et al. Genome Res, 2022 Aug 25. PMID 35858748, 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

  • ATAC-STARR-seq lymphoblastoid active region 22217

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_083563.2 

    Range
    101..1478
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    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    184417843..184419220
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    187761658..187763035
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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