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LOC125371477 Sharpr-MPRA regulatory region 8442 [ Homo sapiens (human) ]

Gene ID: 125371477, updated on 10-Oct-2023

Summary

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Gene symbol
LOC125371477
Gene description
Sharpr-MPRA regulatory region 8442
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 14:Gen5', transcription transition, highly expressed genes towards 5' end). [provided by RefSeq, May 2022]
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Genomic context

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Location:
19p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (10500053..10500347)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (10626488..10626782)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13965 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10067 Neighboring gene cell division cycle 37, HSP90 cochaperone Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13966 Neighboring gene microRNA 1181 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10068 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13967 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:10527911-10528462 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:10528463-10529013 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:10530007-10530886 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10069 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10070 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13968 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13969 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10071 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10072 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:10542553-10543236 Neighboring gene phosphodiesterase 4A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:10543237-10543919 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:10546465-10546964 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13970 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13971 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10075 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10076 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:10572008-10572732 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13973 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:10602595-10603095 Neighboring gene kelch like ECH associated protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13974 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:10612744-10613299 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10078 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:10625413-10626006 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:10626007-10626600 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:10629468-10630030 Neighboring gene sphingosine-1-phosphate receptor 5 Neighboring gene MPRA-validated peak3353 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10079 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10080 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10081 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:10654971-10655566 Neighboring gene RNA, U7 small nuclear 140 pseudogene Neighboring gene autophagy related 4D cysteine peptidase

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_080747.1 

    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
    10500053..10500347
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    10626488..10626782
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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