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LOC125316822 Sharpr-MPRA regulatory region 7485 [ Homo sapiens (human) ]

Gene ID: 125316822, updated on 10-Oct-2023

Summary

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Gene symbol
LOC125316822
Gene description
Sharpr-MPRA regulatory region 7485
Gene type
biological region
Feature type(s)
regulatory: 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 repressive element 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 Repressive DNase unmatched - State 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, May 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 (82551873..82552167)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (83420816..83421110)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13010 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:80416539-80417371 Neighboring gene NARF antisense RNA 2 Neighboring gene nuclear prelamin A recognition factor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13011 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:80452439-80452776 Neighboring gene tRNA-iMet (anticodon CAT) 1-8 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9216 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9217 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9218 Neighboring gene Sharpr-MPRA regulatory region 5709 Neighboring gene forkhead box K2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:80493259-80493844 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:80510130-80510754 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:80511221-80511392 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:80520843-80521344 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:80521345-80521844 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:80524020-80524908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:80528855-80529354 Neighboring gene uncharacterized LOC105371942 Neighboring gene uncharacterized LOC124904132 Neighboring gene ADP ribosylation factor like GTPase 2 binding protein pseudogene 9

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

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_080640.1 

    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
    82551873..82552167
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    83420816..83421110
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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