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LOC126861476 MED14-independent group 3 enhancer GRCh37_chr12:19584202-19585401 [ Homo sapiens (human) ]

Gene ID: 126861476, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126861476
Gene description
MED14-independent group 3 enhancer GRCh37_chr12:19584202-19585401
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. A subregion was also validated as an enhancer by ChIP-STARR-seq in primed human embryonic stem cells, where it is marked by the H3K27ac and H3K4me1 histone modifications. 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: 12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (19431268..19432467)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (19308043..19309242)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene pleckstrin homology domain containing A5 Neighboring gene serine and arginine rich splicing factor 11 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6073 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6074 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:19560966-19561466 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:19563503-19564395 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6077 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4283 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4284 Neighboring gene programmed cell death 5 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4285 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6078 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6079 Neighboring gene AE binding protein 2 Neighboring gene RNA, U6 small nuclear 254, pseudogene Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 4

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
  3. 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

  • ATAC-STARR-seq lymphoblastoid active region 6075
  • ATAC-STARR-seq lymphoblastoid active region 6076
  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:19584530-19585261

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_085975.1 

    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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    19431268..19432467
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    19308043..19309242
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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