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LOC112806067 Sharpr-MPRA regulatory region 6341 [ Homo sapiens (human) ]

Gene ID: 112806067, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112806067
Gene description
Sharpr-MPRA regulatory region 6341
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 unmatched - State 5:Enh, candidate strong enhancer, open chromatin), with weak activation in HepG2 liver carcinoma cells (group: HepG2 Activating DNase unmatched - State 1:Tss, active promoter, TSS/CpG island region). [provided by RefSeq, Jul 2018]
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Genomic context

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Location:
2q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (191867023..191867317)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (192355246..192355540)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (192731749..192732043)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene hCG2045843 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:192690474-192691049 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:192711519-192712027 Neighboring gene CAVIN2 and TMEFF2 antisense RNA 1 Neighboring gene caveolae associated protein 2 Neighboring gene Sharpr-MPRA regulatory region 2977 Neighboring gene DNAJB1 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 5853 Neighboring gene transmembrane protein with EGF like and two follistatin like domains 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:192867249-192867501 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16884 Neighboring gene NANOG hESC enhancer GRCh37_chr2:192976090-192976700 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:192994983-192995675 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:192995676-192996367 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:193059605-193060180

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_060920.1 

    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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    191867023..191867317
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    192355246..192355540
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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