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LOC113748400 Sharpr-MPRA regulatory region 3057 [ Homo sapiens (human) ]

Gene ID: 113748400, updated on 10-Oct-2023

Summary

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Gene symbol
LOC113748400
Gene description
Sharpr-MPRA regulatory region 3057
Gene type
biological region
Feature type(s)
regulatory: enhancer
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 8:EnhW, candidate weak enhancer and open chromatin). [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 (474792..475086)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (574191..574485)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (514429..514723)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC116435278 Neighboring gene uncharacterized LOC112267991 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:473022-473858 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:473859-474694 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:475441-476640 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:485302-485962 Neighboring gene uncharacterized LOC124901566 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25469 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25470 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:499317-500044 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:500045-500772 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:510601-511557 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:515046-515940 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:519557-520077 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:530277-531056 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:531057-531836 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:535084-536005 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:536006-536926 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:543335-544112 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:549933-550440 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:550441-550948 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:551965-552472 Neighboring gene Sharpr-MPRA regulatory region 8552 Neighboring gene NANOG hESC enhancer GRCh37_chr7:555259-555760 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:556430-557352 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:558275-559196 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17808 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17809 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:561041-561962 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17812 Neighboring gene platelet derived growth factor subunit A Neighboring gene ReSE screen-validated silencer GRCh37_chr7:570324-570520 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:572659-573216 Neighboring gene PDGFA divergent transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:578299-579242 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:579243-580184 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:592082-592582 Neighboring gene PRKAR1B antisense RNA 2 Neighboring gene protein kinase cAMP-dependent type I regulatory subunit beta

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_062511.1 

    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
    474792..475086
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    574191..574485
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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