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LOC126862247 MED14-independent group 3 enhancer GRCh37_chr15:99973380-99974579 [ Homo sapiens (human) ]

Gene ID: 126862247, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126862247
Gene description
MED14-independent group 3 enhancer GRCh37_chr15:99973380-99974579
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 two 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: 15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (99433175..99434374)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (97196964..97198163)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene leucine rich repeat containing 28 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 62 Neighboring gene MPRA-validated peak2447 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10151 Neighboring gene uncharacterized LOC105371017 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:99942299-99942818 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:99942819-99943336 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:99944293-99944794 Neighboring gene long intergenic non-protein coding RNA 2244 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:99949649-99950148 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6867 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:99977262-99977931 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:99978603-99979271 Neighboring gene long intergenic non-protein coding RNA 3080 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10154 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:100006923-100007424 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:100014529-100015205 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:100015206-100015881 Neighboring gene Sharpr-MPRA regulatory region 6154 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6868 Neighboring gene uncharacterized LOC107984790 Neighboring gene uncharacterized LOC105371019 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10155 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10156 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10157 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10158 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10159 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6869 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10160

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 10152
  • ATAC-STARR-seq lymphoblastoid active region 10153

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_086745.1 

    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_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    99433175..99434374
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    97196964..97198163
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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