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LOC126862517 MED14-independent group 3 enhancer GRCh37_chr17:19656044-19657243 [ Homo sapiens (human) ]

Gene ID: 126862517, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126862517
Gene description
MED14-independent group 3 enhancer GRCh37_chr17:19656044-19657243
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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Location:
chromosome: 17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (19752731..19753930)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (19701349..19702548)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 47 member 2 Neighboring gene uncharacterized LOC124903948 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19619375-19620224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19620225-19621072 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8298 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19648320-19649287 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11861 Neighboring gene aldehyde dehydrogenase 3 family member A1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8299 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11862 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19662710-19663247 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19665775-19666275 Neighboring gene TBC1 domain family member 25 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11864 Neighboring gene unc-51 like autophagy activating kinase 2 Neighboring gene NADH:ubiquinone oxidoreductase subunit B4 pseudogene 3

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_chr17:19656096-19656626

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_087015.1 

    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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    19752731..19753930
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    19701349..19702548
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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