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LOC126860510 MED14-independent group 3 enhancer GRCh37_chr8:129077402-129078601 [ Homo sapiens (human) ]

Gene ID: 126860510, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126860510
Gene description
MED14-independent group 3 enhancer GRCh37_chr8:129077402-129078601
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: 8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (128065041..128066355)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (129192897..129194211)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene Pvt1 oncogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27958 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:129037427-129037927 Neighboring gene RNA, U4 small nuclear 25, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:129050073-129050724 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:129050725-129051374 Neighboring gene CRISPRi-validated MYC e3 enhancer Neighboring gene CRISPRi-validated MYC e4 enhancer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:129074055-129074702 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19536 Neighboring gene microRNA 1207 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27959 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:129118718-129119218 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:129121159-129122087 Neighboring gene uncharacterized LOC124902020 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:129179416-129180615 Neighboring gene microRNA 1208 Neighboring gene Sharpr-MPRA regulatory region 6197

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_chr8:129077287-129077788
  • H3K27ac hESC enhancer GRCh37_chr8:129077789-129078288

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_085010.2 

    Range
    101..1415
    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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    128065041..128066355
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    129192897..129194211
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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