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LOC124225051 Sharpr-MPRA regulatory region 5074 [ Homo sapiens (human) ]

Gene ID: 124225051, updated on 12-Sep-2024

Summary

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Gene symbol
LOC124225051
Gene description
Sharpr-MPRA regulatory region 5074
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 21:Repr, strong Polycomb repression). [provided by RefSeq, Feb 2022]
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Genomic context

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See LOC124225051 in Genome Data Viewer
Location:
9p
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (14385010..14385304)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (14394770..14395064)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (14385009..14385303)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene nuclear factor I B Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:14204487-14204986 Neighboring gene ribosomal protein L7a pseudogene 47 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:14238163-14238924 Neighboring gene Sharpr-MPRA regulatory region 8618 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:14273817-14274417 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:14274418-14275017 Neighboring gene Sharpr-MPRA regulatory region 4176 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19774 Neighboring gene NFIB antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:14348801-14349300 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:14355781-14356280 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:14395820-14396037 Neighboring gene tRNA-His (anticodon GTG) 1-6 Neighboring gene Sharpr-MPRA regulatory region 8525 Neighboring gene uncharacterized LOC124902121

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

See Variation Viewer (GRCh37.p13)

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_078793.1 

    Range
    101..395
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    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    14385010..14385304
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    14394770..14395064
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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