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LOC126862454 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:216819-218018 [ Homo sapiens (human) ]

Gene ID: 126862454, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126862454
Gene description
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:216819-218018
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 includes enhancers that were validated by the STARR-seq (self-transcribing active regulatory region sequencing) massively parallel reporter assay. In HCT116 colorectal carcinoma cells, a subregion 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. Another subregion was also validated as an enhancer by ChIP-STARR-seq in naive human embryonic stem cells, where it is marked by the H3K4me1 histone modification. [provided by RefSeq, Jan 2023]
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Genomic context

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Location:
chromosome: 17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (366719..368227)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (288417..289925)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene rabphilin 3A like (without C2 domains) Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:181157-181735 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:183692-184468 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:184469-185243 Neighboring gene Sharpr-MPRA regulatory region 15212 Neighboring gene RPH3AL antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 2375 Neighboring gene uncharacterized LOC105371425 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:252557-253756 Neighboring gene uncharacterized LOC105371430 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7938 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11437 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:276928-277621 Neighboring gene ligand of ATE1 Neighboring gene refilin B

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_chr17:216510-217220

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_086952.2 

    Range
    101..1609
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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
    366719..368227
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NW_003315952.3 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    339773..341281
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NT_187662.1 Reference GRCh38.p14 ALT_REF_LOCI_2

    Range
    34411..35919 complement
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    288417..289925
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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