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LOC124252623 Sharpr-MPRA regulatory region 4046 [ Homo sapiens (human) ]

Gene ID: 124252623, updated on 10-Oct-2023

Summary

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Gene symbol
LOC124252623
Gene description
Sharpr-MPRA regulatory region 4046
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 3:PromF, promoter flanking). [provided by RefSeq, Feb 2022]
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Genomic context

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Location:
9p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (26957691..26957985)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (26968280..26968574)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (26957689..26957983)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene phospholipase A2 activating protein Neighboring gene MPRA-validated peak7213 silencer Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:26936699-26937379 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:26946315-26946990 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:26946991-26947664 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr9:26955622-26956357 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr9:26956358-26957092 Neighboring gene IFT74 antisense RNA 1 Neighboring gene intraflagellar transport 74 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:26975626-26976196 Neighboring gene leucine rich repeat containing 19 Neighboring gene Sharpr-MPRA regulatory region 6395 Neighboring gene MPRA-validated peak7214 silencer Neighboring gene uncharacterized LOC124902134

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_078801.1 

    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_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    26957691..26957985
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    26968280..26968574
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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