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LOC125316798 Sharpr-MPRA regulatory region 2383 [ Homo sapiens (human) ]

Gene ID: 125316798, updated on 12-Sep-2024

Summary

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Gene symbol
LOC125316798
Gene description
Sharpr-MPRA regulatory region 2383
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 K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 10:DNaseD, primarily Duke DNase, candidate regulatory elements in more likely repressive locations). [provided by RefSeq, May 2022]
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Genomic context

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See LOC125316798 in Genome Data Viewer
Location:
17q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (76004908..76005202)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (76898044..76898338)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (74000989..74001283)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene acyl-CoA oxidase 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:73966147-73966266 Neighboring gene hESC enhancers GRCh37_chr17:73974421-73975004 and GRCh37_chr17:73975005-73975588 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12786 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73979473-73980302 Neighboring gene TEN1-CDK3 readthrough (NMD candidate) Neighboring gene TEN1 subunit of CST complex Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12787 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12788 Neighboring gene uncharacterized LOC124904061 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12789 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9000 Neighboring gene MPRA-validated peak3002 silencer Neighboring gene cyclin dependent kinase 3 Neighboring gene envoplakin Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74022969-74023856 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74030076-74030683 Neighboring gene Sharpr-MPRA regulatory region 345 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74036239-74036940 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74036941-74037642 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9001 Neighboring gene signal recognition particle 68 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74067885-74068712 Neighboring gene galanin receptor 2

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 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_080617.1 

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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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
    76004908..76005202
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    76898044..76898338
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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