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LOC126806538 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:227859794-227860993 [ Homo sapiens (human) ]

Gene ID: 126806538, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126806538
Gene description
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:227859794-227860993
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, where it 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. A subregion was also validated as an enhancer by ChIP-STARR-seq in primed human embryonic stem cells, where it is marked by the H3K4me1 histone modification. [provided by RefSeq, Dec 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 (226995078..226996277)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (227477773..227478972)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 11623 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12389 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:227661675-227662624 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12390 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12391 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12392 Neighboring gene insulin receptor substrate 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12393 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:227677874-227678445 Neighboring gene Sharpr-MPRA regulatory region 3963 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12394 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17195 Neighboring gene rhomboid domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12395 Neighboring gene MPRA-validated peak4067 silencer Neighboring gene small nucleolar RNA SNORA48 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17196 Neighboring gene collagen type IV alpha 4 chain Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:227929821-227930408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:228028248-228029149 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12397 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:228050272-228050810 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:228055439-228056638 Neighboring gene collagen type IV alpha 3 chain Neighboring gene MFF divergent transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:228185522-228186050 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17198 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12398 Neighboring gene stress induced phosphoprotein 1 pseudogene 2 Neighboring gene mitochondrial fission factor

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
  2. Functional Dissection of the Enhancer Repertoire in Human Embryonic Stem Cells. Barakat TS, et al. Cell Stem Cell, 2018 Aug 2. PMID 30033119, 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

General gene information

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Other Names

  • H3K4me1 hESC enhancer GRCh37_chr2:227860173-227860674

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_082858.1 

    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
    226995078..226996277
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    227477773..227478972
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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