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LOC126863319 MED14-independent group 3 enhancer GRCh37_chrX:131057048-131058247 [ Homo sapiens (human) ]

Gene ID: 126863319, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126863319
Gene description
MED14-independent group 3 enhancer GRCh37_chrX:131057048-131058247
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 H3K27ac histone modification. [provided by RefSeq, Dec 2022]
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Genomic context

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See LOC126863319 in Genome Data Viewer
Location:
chromosome: X
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (131923020..131924219)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (130247230..130248429)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene firre intergenic repeating RNA element Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:130937096-130937596 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:130937597-130938097 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29965 Neighboring gene MAPK regulated corepressor interacting protein 2 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 13107 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21002 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29966 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29967 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:130960090-130960590 Neighboring gene PNKD pseudogene 1 Neighboring gene RNA, 5S ribosomal pseudogene 514 Neighboring gene Sharpr-MPRA regulatory region 3545 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:131156878-131157424 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:131157425-131157972 Neighboring gene serine/threonine kinase 26

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_chrX:131057527-131058026

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_087815.1 

    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_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    131923020..131924219
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    130247230..130248429
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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