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LOC126807435 MED14-independent group 3 enhancer GRCh37_chr5:79374873-79376072 [ Homo sapiens (human) ]

Gene ID: 126807435, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126807435
Gene description
MED14-independent group 3 enhancer GRCh37_chr5:79374873-79376072
Gene type
biological region
Feature type(s)
regulatory: enhancer, silencer
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. An accessible chromatin subregion was used in a lentiviral ReSE (repressive ability of silencer elements) screen that assays for cell survival based on transcriptional repression of an apoptosis-inducing fusion protein. That subregion was identified as a functional silencer in HepG2 liver carcinoma cells. [provided by RefSeq, Jun 2023]
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Genomic context

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See LOC126807435 in Genome Data Viewer
Location:
chromosome: 5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (80079050..80080249)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (80562900..80564099)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene thrombospondin 4 Neighboring gene RBX1 pseudogene 2 Neighboring gene tRNA methyltransferase subunit 11-2 pseudogene 2 Neighboring gene MPRA-validated peak5305 silencer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:79366012-79367211 Neighboring gene THBS4 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16133 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:79380002-79380216 Neighboring gene Sharpr-MPRA regulatory region 11102 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16134 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16135 Neighboring gene serine incorporator 5 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:79441323-79441824 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:79447797-79448296 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:79454739-79455715 Neighboring gene Sharpr-MPRA regulatory region 551 Neighboring gene Sharpr-MPRA regulatory region 2636 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:79481420-79482241 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:79483381-79484211 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:79487586-79488157 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:79488158-79488728 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:79489301-79489871 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:79493799-79494363 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:79494364-79494927 Neighboring gene small nucleolar RNA U13 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:79541871-79542373 Neighboring gene Sharpr-MPRA regulatory region 10230 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:79545029-79545596 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16136 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:79552033-79552966 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:79552967-79553900 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:79553901-79554832 Neighboring gene Sharpr-MPRA regulatory region 10881 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:79568395-79568638 Neighboring gene keratin 18 pseudogene 45

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. Systematic identification of silencers in human cells. Pang B, et al. Nat Genet, 2020 Mar. PMID 32094911, Free PMC Article
  2. 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

General gene information

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Other Names

  • ReSE screen-validated silencer GRCh37_chr5:79375737-79375964

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_083749.1 

    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
    80079050..80080249
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    80562900..80564099
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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