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LOC112272623 Sharpr-MPRA regulatory region 8091 [ Homo sapiens (human) ]

Gene ID: 112272623, updated on 17-Sep-2024

Summary

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Gene symbol
LOC112272623
Gene description
Sharpr-MPRA regulatory region 8091
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 13:Ctcf, distal CTCF/candidate insulator without open chromatin) and K562 erythroleukemia cells (group: K562 Activating non-DNase unmatched - State 13:Ctcf). [provided by RefSeq, Apr 2018]
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Genomic context

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See LOC112272623 in Genome Data Viewer
Location:
15q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (88258298..88258592)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (86012905..86013199)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (88801529..88801823)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene neurotrophic receptor tyrosine kinase 3 Neighboring gene microRNA 11181 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:88564569-88565768 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr15:88579163-88579974 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr15:88579975-88580784 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:88616236-88616831 Neighboring gene mediator complex subunit 28 pseudogene 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:88784333-88784834 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:88798114-88798651 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:88798652-88799188 Neighboring gene NTRK3 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:88817782-88818282 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:88818283-88818783 Neighboring gene uncharacterized LOC105370957 Neighboring gene uncharacterized LOC105370958

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_056757.1 

    Range
    101..395
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    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    88258298..88258592
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    86012905..86013199
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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