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LOC111365177 MED14-independent group 3 enhancer GRCh37_chr7:116412324-116413523 [ Homo sapiens (human) ]

Gene ID: 111365177, updated on 10-Oct-2023

Summary

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Gene symbol
LOC111365177
Gene description
MED14-independent group 3 enhancer GRCh37_chr7:116412324-116413523
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 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 high-throughput massively parallel reporter assays (MPRAs) in liver carcinoma HepG2 cells. The subregion contains a conserved motif for the HNF1 activator, and mutation of the motif results in reduced enhancer activity. [provided by RefSeq, Aug 2022]
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Genomic context

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Location:
7q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (116772270..116773469)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (118087467..118088666)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (116412678..116412822)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 6449 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18559 Neighboring gene greater CFTR locus negative regulatory element NR2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26535 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26536 Neighboring gene cytosolic oncogenic antisense to MET transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26537 Neighboring gene MPRA-validated peak6696 silencer Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:116273493-116274692 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18560 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18561 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18562 Neighboring gene greater CFTR locus negative regulatory element CR3 Neighboring gene greater CFTR locus negative regulatory element CR5 Neighboring gene MET proto-oncogene, receptor tyrosine kinase Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:116363882-116365081 Neighboring gene uncharacterized LOC124901824 Neighboring gene greater CFTR locus negative regulatory element CR6 Neighboring gene greater CFTR locus negative regulatory element CR8 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:116416081-116417280 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:116420832-116421760 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:116421761-116422688 Neighboring gene uncharacterized LOC124901731 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:116496945-116497602 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:116502260-116503022 Neighboring gene RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing pseudogene Neighboring gene capping actin protein of muscle Z-line subunit alpha 2

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. The DNA sequence of human chromosome 7. Hillier LW, et al. Nature, 2003 Jul 10. PMID 12853948
  4. 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

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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

  • HNF1 activator MPRA enhancer 7
  • HNF1 motif-containing MPRA enhancer 7
  • massively parallel reporter assay enhancer 7

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_055790.2 

    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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    116772270..116773469
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    118087467..118088666
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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