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LOC111365163 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr19:13509521-13510720 [ Homo sapiens (human) ]

Gene ID: 111365163, updated on 17-Sep-2024

Summary

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Gene symbol
LOC111365163
Gene description
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr19:13509521-13510720
Gene type
biological region
Feature type(s)
regulatory: enhancer, transcriptional_cis_regulatory_region
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 predicted to be a cell type-specific enhancer based on chromatin state analysis from the ENCODE (ENCyclopedia Of DNA Elements) project. It 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. A subregion was also validated as a functional enhancer by high-throughput massively parallel reporter assays (MPRAs) in both liver carcinoma HepG2 cells and erythroleukemia K562 cells. The subregion contains a conserved motif for the NFE2L2 activator, and mutation of the motif results in reduced enhancer activity. [provided by RefSeq, Aug 2022]
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Genomic context

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See LOC111365163 in Genome Data Viewer
Location:
19p
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (13398707..13399906)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (13524098..13525297)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (13509521..13510720)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14112 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14113 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10197 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14114 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:13263956-13264839 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14115 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10199 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10200 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14116 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14117 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14118 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14119 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14120 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14121 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10201 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:13276087-13276664 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:13278116-13278743 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:13280436-13280936 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:13280937-13281437 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14122 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14123 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14124 Neighboring gene OCT4 hESC enhancer GRCh37_chr19:13295659-13296160 Neighboring gene Sharpr-MPRA regulatory region 13602 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:13297985-13298895 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:13297074-13297984 Neighboring gene ribosomal protein L12 pseudogene 42 Neighboring gene CRISPRi-FlowFISH-validated PRDX2 regulatory element 7 Neighboring gene MPRA-validated peak3367 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10202 Neighboring gene calcium voltage-gated channel subunit alpha1 A repeat instability region Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14125 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10203 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:13319630-13320530 Neighboring gene immediate early response 2 Neighboring gene MPRA-validated peak3368 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14127 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:13335615-13336116 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:13336117-13336616 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:13337139-13337640 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:13341838-13342338 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:13342339-13342839 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10204 Neighboring gene calcium voltage-gated channel subunit alpha1 A Neighboring gene MED14-independent group 3 enhancer GRCh37_chr19:13371552-13372751 Neighboring gene Sharpr-MPRA regulatory region 13658 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:13385818-13387017 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10205 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14132 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr19:13445719-13446918 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:13511134-13511634 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:13511635-13512135 Neighboring gene Sharpr-MPRA regulatory region 1233 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:13618335-13618861 Neighboring gene uncharacterized LOC107985287 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:13700158-13700387 Neighboring gene Sharpr-MPRA regulatory region 13460 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr19:13732208-13732929 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:13776728-13777228 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:13777229-13777729 Neighboring gene uncharacterized LOC105372284 Neighboring gene MPRA-validated peak3373 silencer Neighboring gene MPRA-validated peak3374 silencer

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. Systematic dissection of regulatory motifs in 2000 predicted human enhancers using a massively parallel reporter assay. Kheradpour P, et al. Genome Res, 2013 May. PMID 23512712, Free PMC Article
  2. Mapping and analysis of chromatin state dynamics in nine human cell types. Ernst J, et al. Nature, 2011 May 5. PMID 21441907, Free PMC Article
  3. 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

See Variation Viewer (GRCh37.p13)

General gene information

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Other Names

  • NFE2L2 activator MPRA enhancer 68
  • NFE2L2 motif-containing MPRA enhancer 68
  • massively parallel reporter assay enhancer 68

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_055751.2 

    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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    13398707..13399906
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    13524098..13525297
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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