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LOC126806646 MED14-independent group 3 enhancer GRCh37_chr3:32461132-32462331 [ Homo sapiens (human) ]

Gene ID: 126806646, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126806646
Gene description
MED14-independent group 3 enhancer GRCh37_chr3:32461132-32462331
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 (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. This locus also includes three accessible chromatin subregions that were validated as enhancers based on their ability to activate an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) MPRA in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
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Genomic context

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Location:
chromosome: 3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (32419640..32420839)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (32416579..32417778)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene CKLF like MARVEL transmembrane domain containing 8 Neighboring gene keratin 18 pseudogene 15 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19633 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:32400389-32401068 Neighboring gene uncharacterized LOC124909361 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:32442473-32443342 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:32443343-32444210 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:32448051-32448552 Neighboring gene CKLF like MARVEL transmembrane domain containing 7 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14169 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:32478107-32478788 Neighboring gene Sharpr-MPRA regulatory region 14110 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:32495222-32495722 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14170 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19637 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:32501507-32502217 Neighboring gene Sharpr-MPRA regulatory region 13101 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14171 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14172 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14173 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14174 Neighboring gene CKLF like MARVEL transmembrane domain containing 6 Neighboring gene microRNA 548ay

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. ATAC-STARR-seq reveals transcription factor-bound activators and silencers across the chromatin accessible human genome. Hansen TJ, et al. Genome Res, 2022 Jul 20. PMID 35858748, 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

  • ATAC-STARR-seq lymphoblastoid active region 19634
  • ATAC-STARR-seq lymphoblastoid active region 19635
  • ATAC-STARR-seq lymphoblastoid active region 19636

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_082966.1 

    Range
    101..1300
    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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    32419640..32420839
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    32416579..32417778
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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