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LOC126861990 MED14-independent group 3 enhancer GRCh37_chr14:72240666-72241865 [ Homo sapiens (human) ]

Gene ID: 126861990, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126861990
Gene description
MED14-independent group 3 enhancer GRCh37_chr14:72240666-72241865
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. In HCT116 colorectal carcinoma cells, a subregion 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. Another subregion was also validated as an enhancer by ChIP-STARR-seq in primed human embryonic stem cells, where it is marked by the H3K27ac histone modification. [provided by RefSeq, Jan 2023]
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Genomic context

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Location:
chromosome: 14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (71773636..71775148)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (65979060..65980572)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene signal induced proliferation associated 1 like 1 Neighboring gene uncharacterized LOC145474 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8675 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8676 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8677 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8678 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5898 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8679 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:72072179-72072936 Neighboring gene uncharacterized LOC124903342 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:72220712-72221626 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:72225004-72225562 Neighboring gene Sharpr-MPRA regulatory region 15223 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:72315448-72316027 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:72318891-72319392 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8680 Neighboring gene NANOG hESC enhancer GRCh37_chr14:72362092-72362593 Neighboring gene translation initiation factor IF-2-like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5899 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5900 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5901 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:72410437-72410648 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:72448203-72448816 Neighboring gene regulator of G protein signaling 6 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:72542545-72543085 Neighboring gene uncharacterized LOC124903343 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:72621633-72622832

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_chr14:72240353-72241035

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_086488.2 

    Range
    101..1613
    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_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    71773636..71775148
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    65979060..65980572
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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