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LOC112533642 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:43448585-43449784 [ Homo sapiens (human) ]

Gene ID: 112533642, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112533642
Gene description
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:43448585-43449784
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 sequence was predicted to be a transcriptional regulatory region based on chromatin state analysis from the ENCODE (ENCyclopedia Of DNA Elements) project. The major subregion 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. Two subregions were also shown to be active enhancers by ChIP-STARR-seq in human embryonic stem cells, where both are associated with the OCT4 and NANOG transcription factors and are marked by the H3K27ac and H3K4me1 histone modifications. A subregion was also validated as a functional enhancer by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in HepG2 liver carcinoma cells (group: HepG2 Activating DNase unmatched - State 1:Tss, active promoter, TSS/CpG island region). [provided by RefSeq, Nov 2022]
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Genomic context

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Location:
17q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (45371219..45372666)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (46224950..46226397)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (43449129..43449423)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 443 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:43414932-43415093 Neighboring gene OCT4 hESC enhancer GRCh37_chr17:43427135-43427636 Neighboring gene uncharacterized LOC105371796 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:43450691-43451263 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:43451264-43451835 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:43453675-43454480 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:43462245-43463212 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:43471827-43472486 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:43473118-43473275 Neighboring gene Rho GTPase activating protein 27 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:43488992-43489492 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:43501082-43501588 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:43501589-43502093 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:43502838-43503408 Neighboring gene uncharacterized LOC124904016 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:43507020-43507520 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:43507521-43508021 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:43513205-43513858 Neighboring gene pleckstrin homology and RUN domain containing M1 Neighboring gene microRNA 4315-1

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. Genome-scale high-resolution mapping of activating and repressive nucleotides in regulatory regions. Ernst J, et al. Nat Biotechnol, 2016 Nov. PMID 27701403, Free PMC Article
  3. 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

See Variation Viewer (GRCh37.p13)

General gene information

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Other Names

  • OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:43448734-43449382
  • OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:43449383-43450032
  • Sharpr-MPRA regulatory region 455

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_056913.3 

    Range
    101..1548
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    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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    45371219..45372666
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_167251.2 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    61722..63169
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NT_187663.1 Reference GRCh38.p14 ALT_REF_LOCI_2

    Range
    61722..63169
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    46224950..46226397
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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