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LOC126862476 MED14-independent group 3 enhancer GRCh37_chr17:5635830-5637029 [ Homo sapiens (human) ]

Gene ID: 126862476, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126862476
Gene description
MED14-independent group 3 enhancer GRCh37_chr17:5635830-5637029
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. This sequence 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. [provided by RefSeq, Sep 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 (5732510..5733709)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (5626749..5627948)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903903 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr17:5623530-5624450 Neighboring gene nipsnap homolog 1 (C. elegans) pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11582 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11583 Neighboring gene uncharacterized LOC339166 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:5740831-5741332 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:5800477-5801376 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:5801377-5802275 Neighboring gene NANOG hESC enhancer GRCh37_chr17:5816130-5816781 Neighboring gene Sharpr-MPRA regulatory region 3217 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:5972935-5973766 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:5983596-5984097 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:5990226-5990917 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:5999248-6000148 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:6000149-6001047 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:6001681-6002448 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:6011648-6011820 Neighboring gene WSC domain containing 1

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

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

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_086974.1 

    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
    5732510..5733709
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    5626749..5627948
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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