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LOC126860069 MED14-independent group 3 enhancer GRCh37_chr7:70300982-70302181 [ Homo sapiens (human) ]

Gene ID: 126860069, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126860069
Gene description
MED14-independent group 3 enhancer GRCh37_chr7:70300982-70302181
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 enhancers that were validated by the STARR-seq (self-transcribing active regulatory region sequencing) massively parallel reporter assay. The major subregion had activity 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. Two subregions marked by the H3K27ac histone modification were also shown to be active enhancers by ChIP-STARR-seq in primed human embryonic stem cells. [provided by RefSeq, Oct 2022]
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Genomic context

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Location:
chromosome: 7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (70835996..70837489)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (72059633..72061126)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene activator of transcription and developmental regulator AUTS2 Neighboring gene uncharacterized LOC107986709 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr7:70164947-70165914 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:70168599-70169443 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:70176010-70176532 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26111 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr7:70189901-70190592 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18232 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70193362-70193882 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70193883-70194402 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18233 Neighboring gene uncharacterized LOC105375347 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70227272-70227983 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26112 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18234 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18235 Neighboring gene neuroepithelial cell transforming 1 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70303269-70304021 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_99892 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:70323140-70324089 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:70334305-70334806 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70349305-70349988 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70349989-70350672 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26113 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26114 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70357656-70358422 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70359189-70359954 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70359955-70360720 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26115 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70372989-70373488 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70372487-70372988 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:70399984-70400486 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:70704063-70704563 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70720332-70720840 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:70720841-70721350 Neighboring gene polypeptide N-acetylgalactosaminyltransferase 17 Neighboring gene microRNA 3914-1 Neighboring gene microRNA 3914-2

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. 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 hESC enhancer GRCh37_chr7:70301474-70301974
  • H3K27ac hESC enhancer GRCh37_chr7:70301975-70302475

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_084570.2 

    Range
    101..1594
    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
    70835996..70837489
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    72059633..72061126
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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