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LOC125371474 Sharpr-MPRA regulatory region 3549 [ Homo sapiens (human) ]

Gene ID: 125371474, updated on 10-Oct-2023

Summary

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Gene symbol
LOC125371474
Gene description
Sharpr-MPRA regulatory region 3549
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 unmatched - State 12:CtcfO, distal CTCF/candidate insulator with open chromatin). [provided by RefSeq, May 2022]
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Genomic context

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See LOC125371474 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 (10000213..10000507)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (10126409..10126697)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10047 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10048 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:9958151-9958702 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:9958703-9959252 Neighboring gene peptidylprolyl cis/trans isomerase, NIMA-interacting 1 Neighboring gene olfactomedin 2 Neighboring gene uncharacterized LOC124904636 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10049 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10050 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:10046447-10047041 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:10047708-10048210 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr19:10062835-10063428 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:10063429-10064021 Neighboring gene collagen type V alpha 3 chain Neighboring gene ReSE screen-validated silencer GRCh37_chr19:10109314-10109542 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:10112173-10112674 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:10112675-10113174 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_50731 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:10128438-10129637 Neighboring gene CRISPRi-validated cis-regulatory element chr19.1735 Neighboring gene retinol dehydrogenase 8 Neighboring gene microRNA 5589

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_080744.1 

    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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    10000213..10000507
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    10126409..10126697
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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