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LOC121852925 Sharpr-MPRA regulatory region 2588 [ Homo sapiens (human) ]

Gene ID: 121852925, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121852925
Gene description
Sharpr-MPRA regulatory region 2588
Gene type
biological region
Feature type(s)
regulatory: enhancer, silencer
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 HepG2 liver carcinoma cells (group: HepG2 Activating DNase matched - State 5:Enh, candidate strong enhancer, open chromatin). This region also displayed repressive activity by Sharpr-MPRA in K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 7:EnhWF, candidate poised/weak enhancer, flanking open chromatin of candidate enhancers). [provided by RefSeq, Jul 2021]
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Genomic context

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Location:
17p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (19345596..19345890)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (19293643..19293937)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (19248909..19249203)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene epsin 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11852 Neighboring gene EPN2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11853 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:19212235-19213151 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:19213152-19214067 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:19220479-19221018 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:19233317-19233511 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19234824-19235596 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11854 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11855 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19237143-19237914 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8287 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19244665-19245232 Neighboring gene B9 domain containing 1 Neighboring gene microRNA 1180 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19261015-19261514 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11856 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8288 Neighboring gene uncharacterized LOC105371573 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19266095-19266879 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8289 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19275949-19276498 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8290 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11858 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8291 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8292 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19283774-19284736 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19285982-19286482 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19286483-19286983 Neighboring gene mitogen-activated protein kinase 7 Neighboring gene microfibril associated protein 4

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_076032.1 

    Range
    101..395
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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
    19345596..19345890
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    19293643..19293937
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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