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SNORD115-43 Gene

RNA gene   GIFtS: 18
GCID: GC15P025494

Small Nucleolar RNA, C/D Box 115-43
  See related diseases
at
MalaCards
 

Aliases
for SNORD115-43 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Subcategory (RNA class): snoRNA

Quality score for this RNA gene is 3

Aliases
Small Nucleolar RNA, C/D Box 115-431 2
HBII-52-432

External Ids:    HGNC: 330621   Entrez Gene: 1000338172   Ensembl: ENSG000002023737   
ORGUL members:    fRNAdb10:FR010059 FR247750      

Export aliases for SNORD115-43 gene to outside databases

Previous GC identifers: GC15U900709 GC15P023494 GC15P023570 GC15P023673 GC15P003618


Summaries
for SNORD115-43 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for SNORD115-43 Gene:
SNORD115-43 (small nucleolar RNA, C/D box 115-43) is an RNA gene, and is affiliated with the snoRNA class. Diseases associated with SNORD115-43 include prader-willi syndrome, and angelman syndrome.


Genomic Views
for SNORD115-43 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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TryGeneCards Plus		 Regulatory elements:
   Regulatory transcription factor binding sites in the SNORD115-43 gene promoter:
         HNF-1   NF-E2   NF-E2 p45   RORalpha2   HNF-1A   
         Other transcription factors

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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SNORD115-43


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q11.2   Ensembl cytogenetic band:  15q11.2   HGNC cytogenetic band: 15q11.2

SNORD115-43 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SNORD115-43 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P025494:  view genomic region     (about GC identifiers)

Start:
 25,494,345 bp from pter      End:
 25,494,426 bp from pter
Size:
 82 bases      Orientation:
 plus strand

Proteins
for SNORD115-43 gene

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB: --

Domains /
Families
for SNORD115-43 gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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SNORD: ncRNAs / Small nucleolar RNAs : C/D box containing

  --

Function
for SNORD115-43 gene

(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Localization
for SNORD115-43 gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Pathways & Interactions
for SNORD115-43 gene

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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Interactions:

    Search GeneGlobe Interaction Network for SNORD115-43

Drugs & Compounds
for SNORD115-43 gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Tocris compounds for SNORD115-43



Transcripts
for SNORD115-43 gene

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000365503(snoRNA)
miRNA
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GeneLoc Exon Structure


Expression
for SNORD115-43 gene

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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Expression evidence for SNORD115-43:none

See probesets specificity/sensitivity at GeneAnnot
CGAP TAG: --

SNORD115-43 Protein expression data from MOPED1, PaxDb2 and MaxQB3:  --
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In Situ
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Orthologs
for SNORD115-43 gene

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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ENSEMBL Gene Tree for SNORD115-43 (if available)
TreeFam Gene Tree for SNORD115-43 (if available)

Paralogs
for SNORD115-43 gene

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Genomic Variants
for SNORD115-43 gene

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for SNORD115-43 (see all 25)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance		Chr 15 posSequence#AA
Chg		TypeMore#Allele
freq		PopTotal
sample		More
----------
rs1923523651,2
--25493187(+) GGTCAC/TGCTGG 1 -- us2k10--------
rs1857211041,2
C--25493193(+) GCTGGA/GGTTCT 1 -- us2k10--------
rs1395529931,2
--25493246(+) GCCCCA/GGAGAT 1 -- us2k10--------
rs1450543701,2
--25493256(+) TTCAGA/GACTGC 1 -- us2k10--------
rs118560041,2
C,F,H--25493288(+) GGGACC/TGACCC 1 -- us2k15Minor allele frequency- T:0.44NA WA CSA 9
rs1402591561,2
--25493329(+) TCCTTC/GAGCCT 1 -- us2k10--------
rs612432051,2
C--25493416(+) CCCTGA/GGGGTT 1 -- us2k10--------
rs1512093481,2
C--25493496(+) AAAGGA/G/TTGTCC 1 -- us2k10--------
rs1889813321,2
--25493573(+) AGCCAC/TGGGGT 1 -- us2k10--------
rs1927078191,2
--25493709(+) AAGTAC/TGTGGC 1 -- us2k10--------

HapMap Linkage Disequilibrium report for SNORD115-43 (25494345 - 25494426 bp)

Structural Variations
     Database of Genomic Variants (DGV) 9 variations for SNORD115-43:    About this table    
Variant IDTypeSubtypePubMed ID
esv2749460CNV Deletion23290073
dgv2286n71CNV Loss21882294
nsv1467CNV Loss18451855
nsv456731CNV Loss19166990
esv33464CNV Gain17666407
nsv903721CNV Gain21882294
esv25915CNV Gain+Loss19812545
nsv517360CNV Gain+Loss19592680
nsv903722CNV Gain+Loss21882294

Site Specific Mutation Identification with PCR Assays
Search QIAGEN SeqTarget long-range PCR primers for resequencing SNORD115-43
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Disorders / Diseases
for SNORD115-43 gene

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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2 diseases for SNORD115-43:    
About MalaCards
prader-willi syndrome    angelman syndrome


SNORD115-43 for disorders           About GeneDecksing


Export disorders for SNORD115-43 gene to outside databases

Publications
for SNORD115-43 gene

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for SNORD115-43 gene integrated from 10 sources:
(articles sorted by number of sources associating them with SNORD115-43)		    Utopia: connect your pdf to the dynamic
world of online information

  1. The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A. (PubMed id 11726556)1, 3 Runte M....Buiting K. (Hum. Mol. Genet. 2001)
  2. Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization. (PubMed id 11106375)1, 3 CavaillAc J....HA1ttenhofer A. (Proc. Natl. Acad. Sci. U.S.A. 2000)
  3. Eukaryotic snoRNAs: a paradigm for gene expression flexibility. (PubMed id 19446021)1 Dieci G....Montanini B. (Genomics 2009)
  4. The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C. (PubMed id 16357227)1 Kishore S. and Stamm S. (Science 2006)
  5. Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome. (PubMed id 15565282)1 Runte M....Buiting K. (Hum. Genet. 2005)
  6. ADAR2-mediated editing of RNA substrates in the nucleolus is inhibited by C/D small nucleolar RNAs. (PubMed id 15939761)1 Vitali P....Huttenhofer A. (J. Cell Biol. 2005)
  7. Identification of tandemly-repeated C/D snoRNA genes at the imprinted human 14q32 domain reminiscent of those at the Prader-Willi/Angelman syndrome region. (PubMed id 12045206)1 CavaillAc J....Bachellerie J.P. (Hum. Mol. Genet. 2002)

External Searches for SNORD115-43 gene

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  
  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

Genome Databases showing SNORD115-43 gene

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 100033817 HGNC: 33062 Ensembl:ENSG00000202373 euGenes: HUgn100033817 ECgene: SNORD115-43
H-InvDB: SNORD115-43

Other Databases showing SNORD115-43 gene

(According to HUGE)
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Specialized Databases showing SNORD115-43 gene

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for SNORD115-43 Pharmacogenomics, SNPs, Pathways

Intellectual Property
for SNORD115-43 gene

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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TryGeneCards Plus		Patent Information for SNORD115-43 gene:
Search GeneIP for patents involving SNORD115-43

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



Products
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