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LOC126806465 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:201167128-201168327 [ Homo sapiens (human) ]

Gene ID: 126806465, updated on 12-Sep-2024

Summary

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Gene symbol
LOC126806465
Gene description
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:201167128-201168327
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 (MPRA) 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. This locus also includes an accessible chromatin subregion that was validated as an enhancer based on its ability to activate an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) MPRA in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
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Genomic context

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See LOC126806465 in Genome Data Viewer
Location:
chromosome: 2
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (200302405..200303604)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (200785991..200787190)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (201167128..201168327)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124906112 Neighboring gene uncharacterized LOC124907962 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:200874708-200874865 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:200919369-200920289 Neighboring gene uncharacterized LOC105373833 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:201022335-201023070 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:201023071-201023805 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:201067941-201068746 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:201073293-201073822 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:201109283-201110482 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16955 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12223 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:201176989-201177489 Neighboring gene Sharpr-MPRA regulatory region 2520 Neighboring gene spermatogenesis associated serine rich 2 like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16956 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:201243374-201243900 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16957 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:201253767-201254966 Neighboring gene uncharacterized LOC101927741 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:201270083-201271282 Neighboring gene RNY4 pseudogene 34 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16958 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16959 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16960

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. ATAC-STARR-seq reveals transcription factor-bound activators and silencers within chromatin-accessible regions of the human genome. Hansen TJ, et al. Genome Res, 2022 Aug 25. PMID 35858748, 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

See Variation Viewer (GRCh37.p13)

General gene information

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Other Names

  • ATAC-STARR-seq lymphoblastoid active region 16954

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_082785.1 

    Range
    101..1300
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    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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
    200302405..200303604
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    200785991..200787190
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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