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LOC126806244 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:70173615-70174814 [ Homo sapiens (human) ]

Gene ID: 126806244, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126806244
Gene description
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:70173615-70174814
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: 2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (69946483..69947682)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (69958207..69959406)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15980 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:70141467-70142072 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11602 Neighboring gene Sharpr-MPRA regulatory region 10436 Neighboring gene MAX dimerization protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:70164441-70164976 Neighboring gene aspartic peptidase retroviral like 1 Neighboring gene small nucleolar RNA U13 Neighboring gene Sharpr-MPRA regulatory region 1834 Neighboring gene PCBP1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:70199285-70200162 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:70202867-70203378 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:70203379-70203889 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:70211622-70212122 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:70212123-70212623 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:70220299-70220798 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:70224580-70224834 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15983 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:70256223-70257094 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15984 Neighboring gene Sharpr-MPRA regulatory region 12254 Neighboring gene RNA, 7SL, cytoplasmic 470, 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_082568.1 

    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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    69946483..69947682
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    69958207..69959406
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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