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LOC126863095 MED14-independent group 3 enhancer GRCh37_chr22:18286544-18287743 [ Homo sapiens (human) ]

Gene ID: 126863095, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126863095
Gene description
MED14-independent group 3 enhancer GRCh37_chr22:18286544-18287743
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 and H3K4me1 histone modifications were also shown to be active enhancers by ChIP-STARR-seq in human embryonic stem cells. [provided by RefSeq, Nov 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 (17803778..17805651)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (18471454..18473327)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18629 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18630 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18631 Neighboring gene BH3 interacting domain death agonist Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18632 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13439 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13441 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13442 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13440 Neighboring gene microRNA 3198-1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18633 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18634 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:18262368-18263275 Neighboring gene nonconserved acetylation island sequence 74 enhancer Neighboring gene VISTA enhancer hs2543 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:18271287-18271499 Neighboring gene long intergenic non-protein coding RNA 528 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:18277231-18277730 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18638 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18639 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18640 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18641 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:18291439-18292235 Neighboring gene microtubule associated monooxygenase, calponin and LIM domain containing 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:18298181-18298960 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:18338757-18339640 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:18341985-18342486 Neighboring gene uncharacterized LOC124905075 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:18368270-18368770 Neighboring gene Sharpr-MPRA regulatory region 8921 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18642 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18643 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:18424525-18425300 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:18435745-18436351 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:18438647-18439148 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:18439149-18439648 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:18443505-18444221 Neighboring gene Sharpr-MPRA regulatory region 15525 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:18456361-18456913 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:18462205-18462583 Neighboring gene microRNA 648

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_chr22:18286738-18287578
  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:18287579-18288417

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_087591.2 

    Range
    101..1974
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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
    17803778..17805651
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    18471454..18473327
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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