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Aliases & Descriptionsfor DYRK1A gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase , and/or 9 Nature :405,311-319 and CroW21)About This Section Aliases & Descriptions dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A1 2 dual specificity tyrosine-phosphorylation-regulated kinase 1A2 MNBH2 3 5 DYRK12 MNB2 3 5 mnb protein kinase homolog hp862 Dual specificity YAK1-related kinase2 3 serine/threonine kinase MNB2 Protein kinase minibrain homolog2 3 MNB/DYRK protein kinase2 HP862 3 serine/threonine-specific protein kinase2 DYRK2 3 EC 2.7.12.13 hMNB2 3 dual-specificity tyrosine-Y-phosphorylation regulated kinase, EC 2.7.19 OTTHUMP000001090902
Export aliases for DYRK1A gene to outside databases Previous GC identifers: GC21P035317 GC21P037659 GC21P037712 GC21P037660 GC21P037661 GC21P038739
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Summariesfor DYRK1A gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for DYRK1A : This gene encodes a member of the Dual-specificity tyrosine phosphorylation-regulated kinase (DYRK) family. This member contains a nuclear targeting signal sequence, a protein kinase domain, a leucine zipper motif, and a highly conservative 13-consecutive-histidine repeat. It catalyzes its autophosphorylation on serine/threonine and tyrosine residues. It may play a significant role in a signaling pathway regulating cell proliferation and may be involved in brain development. This gene is a homolog of Drosophila mnb (minibrain) gene and rat Dyrk gene. It is localized in the Down syndrome critical region of chromosome 21, and is considered to be a strong candidate gene for learning defects associated with Down syndrome. Alternative splicing of this gene generates several transcript variants differing from each other either in the 5' UTR or in the 3' coding region. These variants encode at least five different isoforms. (provided by RefSeq) UniProtKB/Swiss-Prot: DYR1A_HUMAN, Q13627 Function : May play a role in a signaling pathway regulating nuclear functions of cell proliferation. Phosphorylatesserine, threonine and tyrosine residues in its sequence and in exogenous substrates Gene Wiki entry for DYRK1A
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Genomic Viewsfor DYRK1A 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 60) ,
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences , Whole Chromsome Sequence According to
Nature (Cited Here with Permission) :405,311-319 and CroW21)About This Section
GC21P024215:
GeneLoc
Nature :405,311-319
Start:
24,215,875 bp from pter
24,367,732 bp from centromere
End:
24,363,782 bp from pter
24,464,002 bp from centromere
Size:
147,908 bases
96,271 bases
Orientation:
plus strand
plus strand
1 alternative location : Chr 21+ 38,739,236-38,887,680
RefSeq DNA sequence: NC_000021.8 NT_011512.11
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Proteinsfor DYRK1A gene
(According to
1 UniProtKB ,
neXtProt ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological , and/or
ProSpec ,
Biochemical Assays by
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene ,
Antibodies by
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals , and/or
Epitomics )
About This Section UniProtKB/Swiss-Prot: DYR1A_HUMAN, Q13627 (See
protein sequence )Recommended Name: Dual specificity tyrosine-phosphorylation-regulated kinase 1A Size : 763 amino acids; 85584 Da
Subunit : Interacts RAD54L2/ARIP4 (By similarity). Interacts with RANBP9. Interacts with WDR68
Subcellular location : Nucleus speckle
Developmental stage : Expressed in the developing central nervous system. Overexpressed 1.5-fold in fetal Down syndromebrain
PDB structure from and Proteopedia : 2VX3 (3D)
 2WO6 (3D)
 
Secondary accessions : O60769 Q92582 Q92810 Q9UNM5Alternative splicing : 5 isoforms : Q13627-1 Q13627-2 Q13627-3 Q13627-4 Q13627-5 (Additional isoforms seem to exist)Explore the universe of human proteins at neXtProt for DYRK1A: NX_Q13627 Post-translational modifications:
Autophosphorylated on tyrosine residues1
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (4 alternative transcripts):
NP_001387.2 NP_567824.1 NP_569120.1 NP_569122.1 ENSEMBL proteins: ENSP00000416089 ENSP00000381929 ENSP00000342690 ENSP00000407854 ENSP00000319032 ENSP00000381932 ENSP00000398483 ENSP00000340373 ENSP00000412912 ENSP00000412269 Human Recombinant Proteins 2 Gene Ontology (GO) cellular component terms (GO ID links to tree view) :
About this table
DYRK1A for ontologies About GeneDecksing Antibodies for DYRK1A: Assays for DYRK1A:
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Protein
Domains/ Familiesfor DYRK1A gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
DYRK1A for domains About GeneDecksing 5/6 InterPro domains/families (see all 6 ):
Graphical View of Domain Structure for InterPro Entry Q13627 ProtoNet protein and cluster: Q13627
UniProtKB/Swiss-Prot: DYR1A_HUMAN, Q13627 Similarity : Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MNB/DYRK subfamilySimilarity : Contains 1 protein kinase domain
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Gene Functionfor DYRK1A gene
(According to UniProtKB ,
IUBMB ,and/or
Genatlas , Animal models from MGI Dec 24 2010,
shRNA from
OriGene ,
Sigma-Aldrich ,
RNAi from
Millipore ,
siRNAs from
Sigma-Aldrich ,
OriGene ,
Qiagen ,
Super-pooled esiRNAs from Sigma-Aldrich ,
microRNA from Sigma-Aldrich ,
Qiagen ,
SABiosciences ,
Clones from Millipore ,
Sigma-Aldrich ,
OriGene ,
GenScript ,
Sino Biological ,
Cell Lines from GenScript ,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene .)
About This Section UniProtKB/Swiss-Prot: DYR1A_HUMAN, Q13627 Function : May play a role in a signaling pathway regulating nuclear functions of cell proliferation. Phosphorylatesserine, threonine and tyrosine residues in its sequence and in exogenous substrates Catalytic activity : ATP + a protein = ADP + a phosphoproteinEnzyme regulation : Inhibited by RANBP9Enzyme Number (IUBMB): EC 2.7.12.1
Genatlas biochemistry entry for DYRK1A :dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1,Drosophila minibrain homolog Dres27,mouse homolog ubiquitously expressed at low levels in embryo,expressed in adult central nervous system -cortex,hippocampus,striatum and spinal cord) located in the Down syndrome critical region (DCR),involved in post-embryonic neurogenesis,putatively overexpressed in Down syndrome and involved in the learning defect and in hypotonia 5/9 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 9 ):
About this table
DYRK1A for ontologies About GeneDecksing Animal Models: 8 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Dyrk1a) :
DYRK1A for phenotypes About GeneDecksing
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Pathways & Interactionsfor DYRK1A gene
(Pathways according to
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
PCR Arrays from
SABiosciences ,
Proteins Network according to
SABiosciences ,
Sigma-Aldrich ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene) .
About This Section
DYRK1A for pathways About GeneDecksing 1 Millipore Pathway for DYRK1A 3 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for DYRK1A SABiosciences Custom Pathway-Focused PCR Arrays for DYRK1A Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for DYRK1A SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DYRK1A 5/22 Interacting proteins for DYRK1A (ENSP00000340373 3 Q13627 2 ) via UniProtKB, MINT, and/or STRING (see all 22 )About this table 4 Gene Ontology (GO) biological process terms (GO ID links to tree view) :
About this table
DYRK1A for ontologies About GeneDecksing
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Drugs & Compoundsfor DYRK1A gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
About This Section
DYRK1A for compounds About GeneDecksing Browse Tocris compounds for DYRK1A 10 Novoseek chemical compound relationships for DYRK1A gene
Compound
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
threonine
63.7
6
15780591 (1), 11828259 (1), 14990717 (1), 19016842 (1) (see all 6 )
serine
52.2
4
11828259 (1), 14990717 (1), 19801542 (1), 19796173 (1)
tyrosine
49.9
47
17536841 (6), 19796173 (3), 12604362 (2), 19016842 (2) (see all 17 )
glycogen
40.2
1
11311121 (1)
phosphotyrosine
21.3
10
17536841 (2)
leucine
11.7
2
8975710 (1), 9070862 (1)
arginine
8.37
4
10644696 (1), 14623875 (1), 11755526 (1)
proline
3.33
2
11311121 (1)
histidine
0
1
17536841 (1)
alanine
0
2
10644696 (1), 12604362 (1)
About this table
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Transcriptsfor DYRK1A gene (GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
Millipore ,
siRNAs from
Sigma-Aldrich ,
OriGene ,
Qiagen ,
Super-pooled esiRNAs from Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
microRNA from Sigma-Aldrich ,
Qiagen ,
SABiosciences ,
Tagged/untagged cDNA clones from
OriGene ,
Sigma-Aldrich ,
GenScript ,
Primers from
OriGene and/or
SABiosciences )About This Section REFSEQ mRNAs for DYRK1A gene (4 alternative transcripts): NM_001396.3 NM_101395.2 NM_130436.2 NM_130438.2
Additional cDNA sequence: AB015282.1 AB015283.1 AB015284.1 AF108830.1 AJ001870.1 AJ001871.1 AK301752.1 BC030515.1 BC045802.1 BC065184.1 D85759.1 D86550.1 U52373.1 U58496.1 Z25423.1
9 DOTS entries : DT.97806866 DT.100791954 DT.449194 DT.92438592 DT.75101238 DT.121141919 DT.121141927 DT.92044861
DT.92438591 24/287 AceView cDNA sequences (see all 287 ):
AU119258 AA887600 NM_101395 NM_001396 AI174919 CB134205 BI495555 AA866036 BI753541 AB015283 AI478511 BM975913 NM_130437 AW573170 BG165287 F04034 AA687255 AI424886 AI391600 BE790930 BM722758 CD557221 AA932861 W93238
highest scoring ESTs for DYRK1A :D86550 U52373 U58496 AA279906 AA306050 AA322447 AA331181 AA337593 AA342261 AA497079 Unigene Cluster for DYRK1A:
Dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A Hs.368240 [show with all ESTs ] Unigene Representative Sequence: NM_130436 GeneLoc Exon Structure 5/6 Alternative Splicing Database (ASD) splice patterns (SP) for DYRK1A (see all 6 ) ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 SP1 :           -                               SP2 :                   -                   -     SP3 :                                     -     SP4 :         -   -         -                       SP5 :         -   -   -       -                      
About this scheme ECgene alternative splicing isoforms for DYRK1A 12 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000451934 ENST00000498351 ENST00000398956 ENST00000338785 (uc002ywg.1 uc002ywh.1 uc002ywi.2 uc002ywk.2 uc002ywl.2 uc002ywm.2 uc011aei.1 )ENST00000455387 ENST00000321219 ENST00000398960 ENST00000455097 (uc010gno.1 )ENST00000339659 (uc002ywj.2 ) ENST00000446708 ENST00000462274 ENST00000426672
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Expression for DYRK1A gene
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 228 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Primers from
OriGene and/or
SABiosciences
)
About This Section DYRK1A expression in normal and diseased human tissues 1 / 2 / 3
10 probe-sets matching DYRK1A gene
Affymetrix probe-set
Array
GeneAnnot data
GeneNote data
GeneTide data
# genes
Sensitivity
Specificity
Correlation
Length
Gb_Accession
Consensus
Uniqueness
Score
Rank
36947_s_at2 , 3
U95-A
1
1.00
1.00
-0.12
0.16
U58496
1.00
1.00
1.00
1
827_s_at2 , 3
U95-A
1
1.00
1.00
-0.08
0.15
U52373
1.00
1.00
1.00
1
36946_at2 , 3
U95-A
1
1.00
1.00
0.97
1.01
D86550
1.00
1.00
1.00
1
1512_at2 , 3
U95-A
1
1.00
1.00
0.98
0.99
D86550
1.00
1.00
1.00
1
211541_s_at2 , 3
U133-A
1
1.00
1.00
--
--
U52373
1.00
1.00
1.00
1
211079_s_at2 , 3
U133-A
1
1.00
1.00
--
--
Z25423
0.40
1.00
0.76
1
209033_s_at2 , 3
U133-A
1
1.00
1.00
--
--
D86550
1.00
1.00
1.00
1
211541_s_at2
U133Plus2
1
1.00
1.00
--
--
--
--
--
--
--
211079_s_at2
U133Plus2
1
1.00
1.00
--
--
--
--
--
--
--
209033_s_at2
U133Plus2
1
1.00
1.00
--
--
--
--
--
--
--
About this table
DYRK1A for expression About GeneDecksing Data from
Genenote  
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: CGGTCTTATG SOURCE GeneReport for Unigene cluster: Hs.368240 Expression variation in blood from EXPOLDB for DYRK1A
UniProtKB/Swiss-Prot: DYR1A_HUMAN, Q13627 Tissue specificity : Ubiquitous. Highest levels in skeletal muscle, testis, fetal lung and fetal kidney
SABiosciences Custom PCR Arrays for DYRK1A
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Orthologsfor DYRK1A gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Dec 24 2010,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
About This Section
Orthologs for DYRK1A gene from 5/13 species (see all 13 )
About this table Species with no ortholog for DYRK1A ENSEMBL Gene Tree for DYRK1A (if available)
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Paralogsfor DYRK1A gene (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section Paralogs for DYRK1A gene HIPK1 2 HIPK3 2 HIPK4 2 HIPK2 2 DYRK1B 2
DYRK1A for paralogs About GeneDecksing
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Genomic Variantsfor DYRK1A gene (SNPs according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Resequencing Primers from Qiagen )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Chr 21 pos Sequence Recs AA Chg Type More Recs Allele freq Pop Total sample More
About this table HapMap Linkage Disequilibrium images for DYRK1A (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for DYRK1A: --
QIAGEN SeqTarget long-range PCR primers for resequencing DYRK1A
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Disorders & Mutationsfor DYRK1A gene
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
LSDB, HGMD, GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
DYRK1A for disorders About GeneDecksing
OMIM: 600855 6 Novoseek disease relationships for DYRK1A gene
Disease
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
down syndrome
86
67
12618396 (4), 15694837 (3), 10812554 (3), 12814361 (2) (see all 33 )
mental retardation
71.7
8
15906374 (1), 16959772 (1), 9918863 (1), 11877424 (1) (see all 8 )
trisomy
45.4
7
11555628 (1), 16554754 (1), 19242551 (1)
memory impairment
41.3
4
17696169 (1), 17536841 (1)
alzheimers disease
37.6
8
19995442 (2), 18696092 (1), 17135279 (1), 19665384 (1) (see all 5 )
neuropathology
36.6
1
12618396 (1)
About this table Human Gene Mutation Database (HGMD) : DYRK1A Human Genome Epidemiology (HuGE) Navigator: DYRK1A (2 documents) Export disorders and mutations for DYRK1A gene to outside databases
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Medical Newsfor DYRK1A gene (Possibly Related Articles in
Doctor's Guide )
About This Section --
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Publicationsfor DYRK1A gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 UniProtKB/TrEMBL , and/or
7 Novoseek )
About This Section 10/141 PubMed articles for DYRK1A gene, integrated from 7 sources (see all 141 ): (articles sorted by number of sources associating them with DYRK1A) Isolation of human and murine homologues of the Drosophila minibrain gene: human homologue maps to 21q22.2 in the Down syndrome 'critical region'. (PubMed id 8975710) 1 , 2 , 7 Song W.J....Kurnit D.W. (1996) Human minibrain homologue (MNBH/DYRK1): characterization, alternative splicing, differential tissue expression, and overexpression in Down syndrome. (PubMed id 10329007) 1 , 2 , 7 Guimera J.... Pritchard M.A. (1999) Minibrain (MNBH) is a single copy gene mapping to human chromosome 21q22.2. (PubMed id 9284911) 1 , 3, 7 Guimera J....Estivill X. (1997) Cloning of a human homolog of the Drosophila minibrain/rat Dyrk gene from 'the Down syndrome critical region' of chromosome 21. (PubMed id 8769099) 1 , 2 , 7 Shindoh N....Shimizu N. (1996) A human homologue of Drosophila minibrain (MNB) is expressed in the neuronal regions affected in Down syndrome and maps to the critical region. (PubMed id 8872470) 1 , 2 , 7 Guimera J.... Pritchard M.A. (1996) Gene identification in 1.6-Mb region of the Down syndrome region on chromosome 21. (PubMed id 9037601) 1 , 2 , 7 Ohira M....Ohki M. (1997) Proteomics analysis of protein kinases by target class-selective prefractionation and tandem mass spectrometry. (PubMed id 17192257) 1 , 2 Wissing J.... Daub H. (2007) Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455) 1 , 2 Rush J.... Comb M.J. (2005) Phosphorylation of Ser640 in muscle glycogen synthase by DYRK family protein kinases. (PubMed id 14593110) 1 , 2 Skurat A.V. and Dietrich A.D. (2004) Serine/threonine kinase Mirk/Dyrk1B is an inhibitor of epithelial cell migration and is negatively regulated by the Met adaptor Ran- binding protein M. (PubMed id 14500717) 1 , 2 Zou Y.... Friedman E. (2003)
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About This Section Patent Information for DYRK1A gene: Search GeneIP for patents involving DYRK1A GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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