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LOC126862665 MED14-independent group 3 enhancer GRCh37_chr17:78667505-78668704 [ Homo sapiens (human) ]

Gene ID: 126862665, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126862665
Gene description
MED14-independent group 3 enhancer GRCh37_chr17:78667505-78668704
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 and primed human embryonic stem cells, where it associates with the NANOG transcription factor and 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 (80693705..80694904)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (81595271..81596470)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371922 Neighboring gene Sharpr-MPRA regulatory region 3542 Neighboring gene regulatory associated protein of MTOR complex 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78587247-78587748 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78587749-78588248 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78589766-78590266 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78590267-78590767 Neighboring gene MPRA-validated peak3026 silencer Neighboring gene ribosomal protein L31 pseudogene 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78610889-78611669 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78634706-78635206 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78635207-78635707 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:78650012-78650538 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:78650539-78651063 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:78670527-78671054 Neighboring gene Sharpr-MPRA regulatory region 1160 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12939 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:78694608-78695807 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78699572-78700532 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12940 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12941 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:78717414-78717768 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78722091-78722592 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78722593-78723092 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:78734834-78736033 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12943 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78753273-78753773 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12944 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9110 Neighboring gene uncharacterized LOC101928855 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78785069-78785570 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78794217-78794820 Neighboring gene uncharacterized LOC124904076

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

  • NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:78667973-78668590

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_087162.1 

    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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    80693705..80694904
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    81595271..81596470
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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