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LOC125371467 Sharpr-MPRA regulatory region 435 [ Homo sapiens (human) ]

Gene ID: 125371467, updated on 10-Oct-2023

Summary

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Gene symbol
LOC125371467
Gene description
Sharpr-MPRA regulatory region 435
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 4:PromP, inactive/poised promoter, highly conserved). [provided by RefSeq, May 2022]
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Genomic context

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See LOC125371467 in Genome Data Viewer
Location:
19p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (7682063..7682357)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (7682948..7683242)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene resistin Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13892 Neighboring gene mast cell expressed membrane protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9990 Neighboring gene trafficking protein particle complex subunit 5 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:7749795-7749977 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13893 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13894 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13895 Neighboring gene Fc epsilon receptor II Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13896 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13897 Neighboring gene uncharacterized LOC105372262 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13898

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_080737.1 

    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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    7682063..7682357
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    7682948..7683242
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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