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LOC121725198 Sharpr-MPRA regulatory region 1512 [ Homo sapiens (human) ]

Gene ID: 121725198, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121725198
Gene description
Sharpr-MPRA regulatory region 1512
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 non-DNase unmatched - State 13:Ctcf, distal CTCF/candidate insulator without open chromatin). [provided by RefSeq, Jun 2021]
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Genomic context

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Location:
5p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (5293036..5293330)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (5220620..5220914)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (5293149..5293443)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ADAMTS16 divergent transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:5139649-5140215 Neighboring gene RN7SK pseudogene 73 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:5145575-5146774 Neighboring gene ADAM metallopeptidase with thrombospondin type 1 motif 16 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:5175316-5175816 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:5175817-5176317 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancers GRCh37_chr5:5179213-5179956 and GRCh37_chr5:5179957-5180699 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:5182558-5183381 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:5183382-5184206 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:5199611-5200127 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:5241793-5242294 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:5242295-5242794 Neighboring gene uncharacterized LOC101929200 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:5271408-5272068 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:5325702-5326669 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:5341091-5341592 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:5341593-5342092 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:5352015-5352515 Neighboring gene ALG3 pseudogene 1 Neighboring gene MT-CO1 pseudogene 30

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_075670.1 

    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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    5293036..5293330
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    5220620..5220914
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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