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LOC126807379 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:43335752-43336951 [ Homo sapiens (human) ]

Gene ID: 126807379, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126807379
Gene description
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:43335752-43336951
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: 5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (43335650..43336849)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (43588485..43589684)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene NIM1 serine/threonine protein kinase Neighboring gene tubulin alpha pseudogene 14 Neighboring gene Sharpr-MPRA regulatory region 4627 Neighboring gene 3-hydroxy-3-methylglutaryl-CoA synthase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22535 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22536 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22537 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:43313910-43314426 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:43314427-43314941 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:43315036-43316235 Neighboring gene CRISPRi-validated cis-regulatory element chr5.1234 Neighboring gene 60S acidic ribosomal protein P1-like Neighboring gene C-C motif chemokine ligand 28 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22538 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15993 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15994

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_083693.1 

    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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    43335650..43336849
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    43588485..43589684
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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