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LOC125177433 Sharpr-MPRA regulatory region 12990 [ Homo sapiens (human) ]

Gene ID: 125177433, updated on 10-Oct-2023

Summary

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Gene symbol
LOC125177433
Gene description
Sharpr-MPRA regulatory region 12990
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 DNase matched - State 8:EnhW, candidate weak enhancer and open chromatin). [provided by RefSeq, Apr 2022]
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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 (17921555..17921849)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (17868247..17868541)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17722069-17722789 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11811 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:17726733-17726883 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8257 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11812 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11813 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17730461-17731182 Neighboring gene microRNA 6777 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17731183-17731904 Neighboring gene sterol regulatory element binding transcription factor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17733682-17734430 Neighboring gene microRNA 33b Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17734431-17735178 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17739175-17740076 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17740077-17740979 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:17740980-17741881 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17743523-17744042 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8261 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17745179-17745680 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17747581-17748101 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17751860-17752706 Neighboring gene Sharpr-MPRA regulatory region 7387 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:17762139-17762639 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11815 Neighboring gene target of myb1 like 2 membrane trafficking protein Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:17779053-17780252 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17780613-17781334 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17787373-17788134 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17788135-17788894 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17792123-17792624 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11816 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11817 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17817644-17818266 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17823655-17824188 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17824189-17824722 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17825257-17825790 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17825791-17826324 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17826325-17826857 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11818 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8262 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17875207-17875776 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11819 Neighboring gene uncharacterized LOC107984989 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17884370-17884870 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:17898150-17898316 Neighboring gene dynein regulatory complex subunit 3 Neighboring gene brain protein I3 pseudogene 3 Neighboring gene ribosomal protein S2 pseudogene

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_080488.1 

    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
    17921555..17921849
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    17868247..17868541
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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