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LOC111365161 MED14-independent group 3 enhancer GRCh37_chr7:92438696-92439895 [ Homo sapiens (human) ]

Gene ID: 111365161, updated on 10-Oct-2023

Summary

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Gene symbol
LOC111365161
Gene description
MED14-independent group 3 enhancer GRCh37_chr7:92438696-92439895
Gene type
biological region
Feature type(s)
regulatory: enhancer, transcriptional_cis_regulatory_region
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 predicted to be a cell type-specific enhancer 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 (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. A subregion was also validated as a functional enhancer by high-throughput massively parallel reporter assays (MPRAs) in both liver carcinoma HepG2 cells and erythroleukemia K562 cells. The subregion contains a conserved motif for the NFE2L2 activator, and mutation of the motif results in reduced enhancer activity. This locus also includes two accessible chromatin subregions that were validated as enhancers based on their 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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See LOC111365161 in Genome Data Viewer
Location:
7q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (92809382..92810581)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (94051380..94052579)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (92439124..92439268)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268009 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26267 Neighboring gene cyclin dependent kinase 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26268 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:92324714-92325913 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26269 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26270 Neighboring gene RNA, U6 small nuclear 10, pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr7:92353193-92353749 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26271 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26272 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:92393426-92394053 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:92397855-92398394 Neighboring gene MPRA-validated peak6637 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26273 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:92462135-92462635 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18375 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26276 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18376 Neighboring gene CDK6 antisense RNA 1 Neighboring gene RNA, 7SL, cytoplasmic 7, pseudogene

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. Systematic dissection of regulatory motifs in 2000 predicted human enhancers using a massively parallel reporter assay. Kheradpour P, et al. Genome Res, 2013 May. PMID 23512712, Free PMC Article
  2. Mapping and analysis of chromatin state dynamics in nine human cell types. Ernst J, et al. Nature, 2011 May 5. PMID 21441907, Free PMC Article
  3. Toward a complete human genome sequence. Sanger Center, et al. Genome Res, 1998 Nov. PMID 9847074
  4. Differential cofactor dependencies define distinct types of human enhancers. Neumayr C, et al. Nature, 2022 Jun. PMID 35650434, Free PMC Article
  5. ATAC-STARR-seq reveals transcription factor-bound activators and silencers across the chromatin accessible human genome. Hansen TJ, et al. Genome Res, 2022 Jul 20. 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

See Variation Viewer (GRCh37.p13)

General gene information

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Other Names

  • ATAC-STARR-seq lymphoblastoid active region 26274
  • ATAC-STARR-seq lymphoblastoid active region 26275
  • NFE2L2 activator MPRA enhancer 59/60
  • NFE2L2 motif-containing MPRA enhancer 59/60
  • massively parallel reporter assay enhancer 59/60

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_055749.2 

    Range
    101..1300
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    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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    92809382..92810581
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    94051380..94052579
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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