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LOC125371469 Sharpr-MPRA regulatory region 3551 [ Homo sapiens (human) ]

Gene ID: 125371469, updated on 10-Oct-2023

Summary

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Gene symbol
LOC125371469
Gene description
Sharpr-MPRA regulatory region 3551
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 DNase matched - 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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Location:
19p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (7929344..7929638)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (7930298..7930592)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10000 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10001 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:7986451-7987053 Neighboring gene uncharacterized LOC124904629 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10002 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10003 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:7991701-7992450 Neighboring gene small nuclear RNA activating complex polypeptide 2 Neighboring gene cortexin 1 Neighboring gene translocase of inner mitochondrial membrane 44 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8007572-8008115 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8008116-8008658 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8008659-8009202 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:8009203-8009745 Neighboring gene MPRA-validated peak3325 silencer Neighboring gene ELAV like RNA binding protein 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8033572-8034184 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8034185-8034798 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13904 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13905 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8042669-8043169 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8066604-8067215 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8067216-8067826 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10006 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10007 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10008 Neighboring gene uncharacterized LOC105372266

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_080739.1 

    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
    7929344..7929638
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    7930298..7930592
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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