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LOC126861565 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:69461643-69462842 [ Homo sapiens (human) ]

Gene ID: 126861565, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126861565
Gene description
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:69461643-69462842
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 1 enhancer that depends on the BRD2, BRD4, P300/CBP, MED14 and CDK7 cofactors, with strong dependence on P300/CBP. [provided by RefSeq, Sep 2022]
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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 (69067863..69069062)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (69047216..69048416)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene carboxypeptidase M Neighboring gene PRELI domain containing 2 pseudogene 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:69401223-69401916 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:69417938-69419137 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:69420279-69420508 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:69436381-69436882 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:69436883-69437382 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:69447351-69447948 Neighboring gene transcript overexpressed in dedifferentiated liposarcoma Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:69509413-69510201 Neighboring gene MPRA-validated peak1782 silencer Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:69633505-69634085 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:69634086-69634665 Neighboring gene Sharpr-MPRA regulatory region 12312 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:69639551-69640050 Neighboring gene MPRA-validated peak1783 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6648 Neighboring gene cleavage and polyadenylation specific factor 6 Neighboring gene C1GALT1 pseudogene 1 Neighboring gene microRNA 1279

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_086064.1 

    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
    69067863..69069062
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    69047216..69048416
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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