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LOC121587589 Sharpr-MPRA regulatory region 4536 [ Homo sapiens (human) ]

Gene ID: 121587589, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121587589
Gene description
Sharpr-MPRA regulatory region 4536
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 a functional enhancer by the Sharpr-MPRA technique (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in both HepG2 liver carcinoma cells (group: HepG2 Activating DNase unmatched - State 8:EnhW, candidate weak enhancer and open chromatin) and K562 erythroleukemia cells (group: K562 Activating DNase matched - State 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, Jun 2021]
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Genomic context

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See LOC121587589 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 (38677056..38677350)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (39540132..39540426)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (36833309..36833603)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene SRC kinase signaling inhibitor 1 Neighboring gene uncharacterized LOC124903992 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36749033-36749534 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36749535-36750034 Neighboring gene Sharpr-MPRA regulatory region 8854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36763065-36763666 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36763667-36764267 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:36765411-36766081 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36775868-36776378 Neighboring gene Sharpr-MPRA regulatory region 2012 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36814959-36815458 Neighboring gene Sharpr-MPRA regulatory region 11404 Neighboring gene Sharpr-MPRA regulatory region 8107 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:36829618-36830453 Neighboring gene elongin BC and polycomb repressive complex 2 associated protein Neighboring gene uncharacterized LOC105371763 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:36858367-36858898 Neighboring gene uncharacterized LOC124903993 Neighboring gene microRNA 4734 Neighboring gene MLLT6, PHD finger containing

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

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)

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_074877.1 

    Range
    101..395
    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
    38677056..38677350
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187614.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    2712375..2712669
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    39540132..39540426
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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