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LOC121587602 H3K4me1 hESC enhancer GRCh37_chr17:48717641-48718411 [ Homo sapiens (human) ]

Gene ID: 121587602, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121587602
Gene description
H3K4me1 hESC enhancer GRCh37_chr17:48717641-48718411
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. It was validated as an active enhancer by the ChIP-STARR-seq massively parallel reporter assay in naive human embryonic stem cells, where it is marked by the H3K4me1 histone modification. A subregion was also validated as an enhancer by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 8:EnhW, candidate weak enhancer and open chromatin). [provided by RefSeq, Jan 2023]
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Genomic context

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See LOC121587602 in Genome Data Viewer
Location:
17q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (50640280..50641050)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (51507444..51508214)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (48718089..48718383)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene CACNA1G antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12387 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8705 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48639035-48639624 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48646614-48647600 Neighboring gene calcium voltage-gated channel subunit alpha1 G Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48670255-48671063 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48673674-48674174 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48686338-48686945 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48702910-48703682 Neighboring gene uncharacterized LOC101927253 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8706 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:48715992-48717191 Neighboring gene ATP binding cassette subfamily C member 3 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:48738547-48739746 Neighboring gene Sharpr-MPRA regulatory region 5804 Neighboring gene ABCC3 (B) eExon liver enhancer Neighboring gene Sharpr-MPRA regulatory region 2031 Neighboring gene ankyrin repeat domain 40 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8707 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8708 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8709 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12388 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8710 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48802297-48802796 Neighboring gene LUC7 like 3 pre-mRNA splicing factor

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. 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
  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

See Variation Viewer (GRCh37.p13)

General gene information

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Other Names

  • Sharpr-MPRA regulatory region 2475

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_074987.2 

    Range
    101..871
    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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    50640280..50641050
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    51507444..51508214
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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