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LOC125177454 Sharpr-MPRA regulatory region 6872 [ Homo sapiens (human) ]

Gene ID: 125177454, updated on 10-Oct-2023

Summary

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Gene symbol
LOC125177454
Gene description
Sharpr-MPRA regulatory region 6872
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 non-DNase unmatched - State 15:Elon, transcription elongation, stronger H3K36me3, more exonic). [provided by RefSeq, Apr 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 (31371711..31372005)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (32317073..32317367)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene neurofibromin 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12009 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12010 Neighboring gene NF1 intron 50 Alu-mediated recombination region Neighboring gene ecotropic viral integration site 2A Neighboring gene adenylate kinase 4 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:29717908-29718497 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:29727239-29727740 Neighboring gene RAB11 family interacting protein 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:29738471-29739436 Neighboring gene uncharacterized LOC124903977 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:29741367-29742330 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:29742806-29743646 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:29743647-29744486 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:29751937-29752664 Neighboring gene uncharacterized LOC105371725

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_080509.1 

    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
    31371711..31372005
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791803.1 Reference GRCh38.p14 PATCHES

    Range
    450574..450868
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    32317073..32317367
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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