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LOC126861550 MED14-independent group 3 enhancer GRCh37_chr12:59751164-59752363 [ Homo sapiens (human) ]

Gene ID: 126861550, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126861550
Gene description
MED14-independent group 3 enhancer GRCh37_chr12:59751164-59752363
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 in HCT116 colorectal carcinoma cells. This sequence 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. [provided by RefSeq, Sep 2022]
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Genomic context

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See LOC126861550 in Genome Data Viewer
Location:
chromosome: 12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (59357383..59358582)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (59344596..59345795)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene LRIG3 divergent transcript Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:59448831-59450030 Neighboring gene ribosomal protein S6 pseudogene 22 Neighboring gene VISTA enhancer hs1427 Neighboring gene methyltransferase like 15 pseudogene 2 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_30249 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6571 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_30360 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:59587037-59588236 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:59716766-59717659 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:59720343-59721236 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:59722131-59723023 Neighboring gene RNA, U6 small nuclear 279, pseudogene Neighboring gene RNA, U6 small nuclear 871, pseudogene

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

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

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_086049.1 

    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
    59357383..59358582
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    59344596..59345795
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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