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LOC113748394 Sharpr-MPRA regulatory region 2260 [ Homo sapiens (human) ]

Gene ID: 113748394, updated on 10-Oct-2023

Summary

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Gene symbol
LOC113748394
Gene description
Sharpr-MPRA regulatory region 2260
Gene type
biological region
Feature type(s)
regulatory: enhancer, 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 enhancer 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 Activating DNase matched - State 5:Enh, candidate strong enhancer, open chromatin). It also displayed weak repressive activity by Sharpr-MRPA in K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 22:ReprW, weaker Polycomb repression). [provided by RefSeq, Dec 2018]
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Genomic context

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Location:
7p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (47715831..47716125)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (47878352..47878646)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (47755429..47755723)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr7:47665579-47666118 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:47674273-47674984 Neighboring gene long intergenic non-protein coding RNA 1447 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:47699457-47699997 Neighboring gene long intergenic non-protein coding RNA 2902 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:47711792-47712670 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:47719702-47720215 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:47721760-47722273 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:47749727-47750441 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25981 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:47763585-47764516 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:47778987-47779641 Neighboring gene Sharpr-MPRA regulatory region 6862 Neighboring gene long intergenic non-protein coding RNA 525 Neighboring gene Sharpr-MPRA regulatory region 14324 Neighboring gene polycystin 1 like 1, transient receptor potential channel interacting Neighboring gene PKD1L1 antisense RNA 1

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. The DNA sequence of human chromosome 7. Hillier LW, et al. Nature, 2003 Jul 10. PMID 12853948
  2. Toward a complete human genome sequence. Sanger Center, et al. Genome Res, 1998 Nov. PMID 9847074
  3. 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_062505.1 

    Range
    101..395
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    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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    47715831..47716125
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    47878352..47878646
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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