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LOC126805717 MED14-independent group 3 enhancer GRCh37_chr1:41472557-41473756 [ Homo sapiens (human) ]

Gene ID: 126805717, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126805717
Gene description
MED14-independent group 3 enhancer GRCh37_chr1:41472557-41473756
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 (MPRA) 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 identified as an uncharacterized cis-regulatory element (CRE) that lacked a promoter, enhancer or CTCF-bound insulator chromatin signature. That subregion was validated as a silencer that could repress activity of a super core promoter (SCP1) by STARR-seq MPRAs in K562 erythroleukemia cells. [provided by RefSeq, Apr 2023]
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Genomic context

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Location:
chromosome: 1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (41006885..41008084)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (40876249..40877448)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene protein phosphatase 2 catalytic subunit alpha pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:41410503-41411002 Neighboring gene UBE2V1 pseudogene 8 Neighboring gene Sharpr-MPRA regulatory region 12776 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 738 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 739 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 740 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 858 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 859 Neighboring gene CTP synthase 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_8011 Neighboring gene SLFNL1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:41492537-41493455 Neighboring gene MPRA-validated peak193 silencer Neighboring gene schlafen like 1 Neighboring gene Scm polycomb group protein homolog 1 Neighboring gene ribosomal protein L23a pseudogene 17

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. Candidate silencer elements for the human and mouse genomes. Doni Jayavelu N, et al. Nat Commun, 2020 Feb 26. PMID 32103011, 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

  • MPRA-validated peak192 silencer

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_082041.1 

    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    41006885..41008084
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    40876249..40877448
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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