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LOC126806509 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:218234719-218235918 [ Homo sapiens (human) ]

Gene ID: 126806509, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126806509
Gene description
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:218234719-218235918
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 (217369996..217371195)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (217852831..217854030)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:218125637-218126836 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:218134772-218135400 Neighboring gene RN7SK pseudogene 43 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:218156138-218156638 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:218156639-218157139 Neighboring gene DIRC3 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 8768 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:218199087-218199799 Neighboring gene disrupted in renal carcinoma 3 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56988 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56989 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56990 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56991 Neighboring gene uncharacterized LOC124907981 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56992 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:218291011-218292210 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:218365243-218365794 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12307 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:218416177-218416745 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:218419796-218420396 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:218474359-218475066 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17105 Neighboring gene ATPase H+/K+ transporting non-gastric alpha2 subunit 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_082829.1 

    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
    217369996..217371195
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    217852831..217854030
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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