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LOC126805702 MED14-independent group 3 enhancer GRCh37_chr1:37920349-37921548 [ Homo sapiens (human) ]

Gene ID: 126805702, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126805702
Gene description
MED14-independent group 3 enhancer GRCh37_chr1:37920349-37921548
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. Two subregions marked by the H3K27ac and H3K4me1 histone modifications were also shown to be active enhancers by ChIP-STARR-seq in naive human embryonic stem cells. [provided by RefSeq, Oct 2022]
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Genomic context

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Location:
chromosome: 1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (37454748..37455947)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (37319512..37320711)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein S29 pseudogene 6 Neighboring gene uncharacterized LOC107984942 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:37827606-37827793 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_7809 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:37876230-37876730 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:37876731-37877231 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:37916959-37918158 Neighboring gene lncRNA induced by TGF-beta and antagonizes TGF-beta signaling 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 670 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 671 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 766 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 767 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr1:37944526-37945352 and GRCh37_chr1:37945353-37946179 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 769 Neighboring gene zinc finger CCCH-type containing 12A Neighboring gene microRNA 6732 Neighboring gene MYST/Esa1 associated factor 6 Neighboring gene microRNA 5581

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_chr1:37920397-37920918
  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:37920919-37921440

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_082026.1 

    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    37454748..37455947
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    37319512..37320711
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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