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LOC126863181 MED14-independent group 3 enhancer GRCh37_chr22:49479476-49480675 [ Homo sapiens (human) ]

Gene ID: 126863181, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126863181
Gene description
MED14-independent group 3 enhancer GRCh37_chr22:49479476-49480675
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. A subregion was also validated as an enhancer by ChIP-STARR-seq in naive human embryonic stem cells, where it is marked by the H3K4me1 histone modification. [provided by RefSeq, Dec 2022]
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Genomic context

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Location:
chromosome: 22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (49083664..49084863)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (49588058..49589257)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:49264603-49265104 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:49265105-49265604 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:49267795-49268295 Neighboring gene long intergenic non-protein coding RNA 1310 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_63550 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:49298268-49298768 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:49315147-49315667 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_63573 Neighboring gene MPRA-validated peak4515 silencer Neighboring gene Sharpr-MPRA regulatory region 10948 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:49355769-49356614 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:49411058-49411949 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:49414603-49415102 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:49416620-49417120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:49417121-49417621 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr22:49430339-49431262 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:49444419-49444575 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19277 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:49472572-49473132 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:49473133-49473691 Neighboring gene neuronal hypoxia inducible, placenta associated Neighboring gene uncharacterized LOC105373086 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:49492353-49492524 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:49492933-49493434 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:49493435-49493934 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:49494904-49495901 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_63615 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_63621 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:49546439-49546996 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:49548111-49548668 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:49576267-49576766 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:49579645-49580415 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:49583849-49585048 Neighboring gene MPRA-validated peak4516 silencer Neighboring gene ribosomal protein L35 pseudogene 8

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

  • H3K4me1 hESC enhancer GRCh37_chr22:49480099-49480599

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_087677.1 

    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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    49083664..49084863
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    49588058..49589257
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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