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LOC121175340 Sharpr-MPRA regulatory region 5390 [ Homo sapiens (human) ]

Gene ID: 121175340, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121175340
Gene description
Sharpr-MPRA regulatory region 5390
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 both HepG2 liver carcinoma cells (group: HepG2 Activating non-DNase unmatched - State 24:Quies, heterochromatin/dead zone) and K562 erythroleukemia cells (group: K562 Activating DNase matched - State 10:DNaseD, primarily Duke DNase, candidate regulatory elements in more likely repressive locations). [provided by RefSeq, Apr 2021]
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Genomic context

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See LOC121175340 in Genome Data Viewer
Location:
7p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (39946750..39947044)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (40104252..40104546)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (39986349..39986643)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928688 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:39894264-39894799 Neighboring gene RWD domain containing 4 pseudogene 2 Neighboring gene RNA, 7SL, cytoplasmic 496, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:39954013-39954514 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25884 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:39988304-39989223 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:39989224-39990142 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18115 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18116 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:39991063-39991981 Neighboring gene CDK13 divergent transcript Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:40015128-40015628 Neighboring gene cyclin dependent kinase 13 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:40017861-40018605 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25889 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:40095303-40095542

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_074272.1 

    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
    39946750..39947044
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    40104252..40104546
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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