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LOC121725171 Sharpr-MPRA regulatory region 5602 [ Homo sapiens (human) ]

Gene ID: 121725171, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121725171
Gene description
Sharpr-MPRA regulatory region 5602
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 K562 erythroleukemia cells (group: K562 Activating DNase matched - State 12:CtcfO, distal CTCF/candidate insulator with open chromatin). [provided by RefSeq, Jun 2021]
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Genomic context

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Location:
4q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (57426803..57427097)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (60917726..60918030)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (58292969..58293263)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene IGFBP7 antisense RNA 1 Neighboring gene uncharacterized LOC107986283 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:58022957-58023466 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:58023467-58023975 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15460 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:58060229-58060730 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:58060731-58061230 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:58090676-58091410 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:58131975-58132531 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:58153017-58153564 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:58153565-58154110 Neighboring gene ribosomal protein S26 pseudogene 24 Neighboring gene long intergenic non-protein coding RNA 2380 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:58338702-58339202 Neighboring gene small nucleolar RNA U13 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:58411030-58411548 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:58411549-58412065 Neighboring gene uncharacterized LOC105377670

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_075644.1 

    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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    57426803..57427097
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    60917726..60918030
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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