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LOC126807624 MED14-independent group 3 enhancer GRCh37_chr5:178819998-178821197 [ Homo sapiens (human) ]

Gene ID: 126807624, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126807624
Gene description
MED14-independent group 3 enhancer GRCh37_chr5:178819998-178821197
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: 5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (179392997..179394196)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (179946370..179947569)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377759 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:178795338-178796033 Neighboring gene uncharacterized LOC124901149 Neighboring gene uncharacterized LOC107986494 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:178814001-178814502 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:178848149-178848650 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:178848651-178849150 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:178895226-178895950 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:178899385-178899886 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:178899887-178900386 Neighboring gene U4 spliceosomal RNA Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23749 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:178926962-178927462 Neighboring gene uncharacterized LOC100128622 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16729 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:178941125-178941972 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:178945330-178946105

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_083938.1 

    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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    179392997..179394196
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_016107298.1 Reference GRCh38.p14 PATCHES

    Range
    157704..158903
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    179946370..179947569
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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