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LOC112577488 Sharpr-MPRA regulatory region 5682 [ Homo sapiens (human) ]

Gene ID: 112577488, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112577488
Gene description
Sharpr-MPRA regulatory region 5682
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 14:Gen5', transcription transition, highly expressed genes towards 5' end). [provided by RefSeq, Jun 2018]
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Genomic context

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Location:
1p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (12573881..12574175)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (12118013..12118307)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (12633909..12634203)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2766 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:12600378-12601026 Neighboring gene Sharpr-MPRA regulatory region 4366 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:12608056-12608563 Neighboring gene Sharpr-MPRA regulatory region 1458 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:12612066-12613020 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:12613021-12613973 Neighboring gene RNA, U6atac small nuclear 18, pseudogene Neighboring gene dehydrogenase/reductase 3 Neighboring gene microRNA 6730 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:12652795-12653294 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:12663043-12663228 Neighboring gene Sharpr-MPRA regulatory region 11784 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:12677840-12678472 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:12678473-12679104 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:12679105-12679736 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:12679972-12680223 Neighboring gene arylacetamide deacetylase like 4

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_060050.1 

    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    12573881..12574175
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    12118013..12118307
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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