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LOC126861613 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:102814900-102816099 [ Homo sapiens (human) ]

Gene ID: 126861613, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126861613
Gene description
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:102814900-102816099
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: 12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (102421122..102422321)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (102382281..102383480)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_22907 Neighboring gene reticulon 3 pseudogene Neighboring gene MPRA-validated peak1918 silencer Neighboring gene RNA, 7SL, cytoplasmic 793, pseudogene Neighboring gene MPRA-validated peak1919 silencer Neighboring gene long intergenic non-protein coding RNA 2456 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:102706680-102707215 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:102715995-102716736 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23014 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23056 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23075/23079 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:102869029-102869530 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:102869531-102870030 Neighboring gene insulin like growth factor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6881 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6882 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6883 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6884 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6885 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:102933234-102934433 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:103115830-103116467 Neighboring gene Sharpr-MPRA regulatory region 11085 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:103218752-103218929 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:103226259-103226804 Neighboring gene NANOG hESC enhancer GRCh37_chr12:103232984-103233485 Neighboring gene long intergenic non-protein coding RNA 485 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:103244689-103245888 Neighboring gene uncharacterized LOC124902999 Neighboring gene phenylalanine hydroxylase

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_086112.1 

    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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    102421122..102422321
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    102382281..102383480
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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