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LOC126806316 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:113998497-113999696 [ Homo sapiens (human) ]

Gene ID: 126806316, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126806316
Gene description
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:113998497-113999696
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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See LOC126806316 in Genome Data Viewer
Location:
chromosome: 2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (113240920..113242119)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (113667484..113668683)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16412 Neighboring gene interleukin 1 receptor antagonist Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11878 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11879 Neighboring gene Sharpr-MPRA regulatory region 7144 Neighboring gene uncharacterized LOC124907872 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:113929890-113930390 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:113930391-113930891 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16413 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16414 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16415 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11880 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16416 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16417 Neighboring gene pleckstrin and Sec7 domain containing 4 Neighboring gene Sharpr-MPRA regulatory region 2961 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16418 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11881 Neighboring gene paired box 8 Neighboring gene PAX8 antisense RNA 1 Neighboring gene PAX8 promoter region Neighboring gene uncharacterized LOC105373567 Neighboring gene long intergenic non-protein coding RNA 2966 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:114099097-114099596 Neighboring gene uncharacterized LOC124906070

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_082637.1 

    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
    113240920..113242119
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    113667484..113668683
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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