TRPC5

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene belongs to the transient receptor family. It encodes one of the seven mammalian TRPC (transient receptor potential channel) proteins. The encoded protein is a multi-pass membrane protein and is thought to form a receptor-activated non-selective calcium permeant cation channel. The protein is active alone or as a heteromultimeric assembly with TRPC1, TRPC3, and TRPC4. It also interacts with multiple proteins including calmodulin, CABP1, enkurin, Na(+)-H+ exchange regulatory factor (NHERF ), interferon-induced GTP-binding protein (MX1), ring finger protein 24 (RNF24), and SEC14 domain and spectrin repeat-containing protein 1 (SESTD1). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1vocalization behavior (GO:0071625)5.97115569
2ionotropic glutamate receptor signaling pathway (GO:0035235)5.87757635
3regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.79144018
4neuron cell-cell adhesion (GO:0007158)5.63294273
5regulation of short-term neuronal synaptic plasticity (GO:0048172)5.47566364
6regulation of glutamate receptor signaling pathway (GO:1900449)5.43673622
7positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.41614838
8regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)5.34927246
9glutamate receptor signaling pathway (GO:0007215)5.28715149
10positive regulation of action potential (GO:0045760)5.24774970
11tachykinin receptor signaling pathway (GO:0007217)5.11948323
12protein localization to synapse (GO:0035418)5.11743629
13synaptic transmission, glutamatergic (GO:0035249)4.73962038
14locomotory exploration behavior (GO:0035641)4.73918090
15positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.63608637
16synaptic vesicle exocytosis (GO:0016079)4.62384317
17neurotransmitter-gated ion channel clustering (GO:0072578)4.56966374
18presynaptic membrane assembly (GO:0097105)4.50916767
19neuron-neuron synaptic transmission (GO:0007270)4.47326264
20exploration behavior (GO:0035640)4.47194641
21gamma-aminobutyric acid signaling pathway (GO:0007214)4.37980935
22glutamate secretion (GO:0014047)4.35755338
23neuron recognition (GO:0008038)4.32230030
24postsynaptic membrane organization (GO:0001941)4.27931587
25positive regulation of synapse maturation (GO:0090129)4.27235835
26presynaptic membrane organization (GO:0097090)4.24589368
27regulation of synaptic vesicle exocytosis (GO:2000300)4.18619345
28regulation of excitatory postsynaptic membrane potential (GO:0060079)4.15053186
29synaptic vesicle maturation (GO:0016188)4.10435971
30regulation of long-term neuronal synaptic plasticity (GO:0048169)4.09675213
31behavioral defense response (GO:0002209)4.02797806
32behavioral fear response (GO:0001662)4.02797806
33synaptic vesicle docking involved in exocytosis (GO:0016081)4.02323207
34regulation of postsynaptic membrane potential (GO:0060078)3.99864498
35regulation of neuronal synaptic plasticity (GO:0048168)3.99649987
36neuronal action potential propagation (GO:0019227)3.99475095
37response to histamine (GO:0034776)3.94140121
38regulation of synaptic vesicle transport (GO:1902803)3.85965781
39fear response (GO:0042596)3.84512676
40long-term memory (GO:0007616)3.82702116
41neurotransmitter secretion (GO:0007269)3.79933462
42startle response (GO:0001964)3.79614093
43G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.78778199
44transmission of nerve impulse (GO:0019226)3.77816123
45negative regulation of heart rate (GO:0010459)3.77587660
46axonal fasciculation (GO:0007413)3.75497802
47regulation of female receptivity (GO:0045924)3.72254694
48positive regulation of membrane potential (GO:0045838)3.71032321
49regulation of action potential (GO:0098900)3.70991687
50regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.70365228
51negative regulation of synaptic transmission, GABAergic (GO:0032229)3.69357921
52neuronal action potential (GO:0019228)3.67046088
53layer formation in cerebral cortex (GO:0021819)3.59809015
54regulation of synaptic plasticity (GO:0048167)3.58509045
55female mating behavior (GO:0060180)3.56372837
56regulation of dendritic spine morphogenesis (GO:0061001)3.54124286
57long-term synaptic potentiation (GO:0060291)3.53170962
58gamma-aminobutyric acid transport (GO:0015812)3.52655194
59regulation of synapse maturation (GO:0090128)3.52470202
60positive regulation of dendritic spine morphogenesis (GO:0061003)3.50141169
61positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.49453784
62regulation of glutamate secretion (GO:0014048)3.47976792
63regulation of synaptic transmission, glutamatergic (GO:0051966)3.46894089
64synaptic vesicle endocytosis (GO:0048488)3.41875492
65dendritic spine morphogenesis (GO:0060997)3.41161714
66positive regulation of synapse assembly (GO:0051965)3.39488984
67membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.38472931
68innervation (GO:0060384)3.36417783
69cochlea development (GO:0090102)3.32817725
70regulation of synaptic transmission, GABAergic (GO:0032228)3.31851789
71positive regulation of synaptic transmission, GABAergic (GO:0032230)3.31368597
72negative regulation of cytosolic calcium ion concentration (GO:0051481)3.29291427
73membrane depolarization (GO:0051899)3.29098944
74positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.28869779
75positive regulation of dendritic spine development (GO:0060999)3.27208442
76neurotransmitter transport (GO:0006836)3.26119384
77proline transport (GO:0015824)3.24696848
78positive regulation of neurotransmitter secretion (GO:0001956)3.23202387
79learning (GO:0007612)3.23130952
80G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.21732578
81cellular potassium ion homeostasis (GO:0030007)3.18842030
82regulation of dendritic spine development (GO:0060998)3.17192050
83regulation of glucocorticoid secretion (GO:2000849)3.16286895
84serotonin metabolic process (GO:0042428)3.15922702
85establishment of protein localization to Golgi (GO:0072600)3.14779443
86regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.14729289
87synapse assembly (GO:0007416)3.13701257
88auditory behavior (GO:0031223)3.12762299
89regulation of synapse structural plasticity (GO:0051823)3.12105996
90detection of calcium ion (GO:0005513)3.10871053
91detection of light stimulus involved in sensory perception (GO:0050962)3.08994164
92detection of light stimulus involved in visual perception (GO:0050908)3.08994164
93regulation of vesicle fusion (GO:0031338)3.06304596
94social behavior (GO:0035176)3.06125783
95intraspecies interaction between organisms (GO:0051703)3.06125783
96long term synaptic depression (GO:0060292)3.05303142
97protein targeting to Golgi (GO:0000042)3.04498464
98synaptic transmission (GO:0007268)3.03782592
99regulation of neurotransmitter levels (GO:0001505)3.01911577
100membrane hyperpolarization (GO:0060081)2.99812220
101regulation of synaptic transmission (GO:0050804)2.98555851
102membrane depolarization during action potential (GO:0086010)2.97755752
103histone H2A acetylation (GO:0043968)2.97030432
104regulation of neurotransmitter secretion (GO:0046928)2.96086851
105neuromuscular process controlling posture (GO:0050884)2.95984688
106phosphorelay signal transduction system (GO:0000160)2.95726442
107regulation of synapse assembly (GO:0051963)2.95541876
108positive regulation of vesicle fusion (GO:0031340)2.95146846
109memory (GO:0007613)2.94305405
110primary amino compound metabolic process (GO:1901160)2.93878165
111central nervous system projection neuron axonogenesis (GO:0021952)2.92671294
112cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.91928065
113cerebellar granule cell differentiation (GO:0021707)2.91464122
114L-amino acid import (GO:0043092)2.91267217
115chemosensory behavior (GO:0007635)2.90833147
116acidic amino acid transport (GO:0015800)2.90370395
117dendritic spine organization (GO:0097061)2.90127086
118urinary tract smooth muscle contraction (GO:0014848)2.89465938
119positive regulation of synaptic transmission (GO:0050806)2.89160037
120righting reflex (GO:0060013)2.87921019
121response to auditory stimulus (GO:0010996)2.87607100
122negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.87553248
123regulation of synapse organization (GO:0050807)2.86270290
124regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.86202708
125negative regulation of dendrite development (GO:2000171)2.77193804
126L-glutamate transport (GO:0015813)2.74535810
127retrograde transport, vesicle recycling within Golgi (GO:0000301)2.73985729
128positive regulation of digestive system process (GO:0060456)2.69424931
129cell communication involved in cardiac conduction (GO:0086065)2.69394186
130C4-dicarboxylate transport (GO:0015740)2.68137326
131negative regulation of dendrite morphogenesis (GO:0050774)2.67685354
132visual learning (GO:0008542)2.61075279
133synapse organization (GO:0050808)2.61019562
134adult walking behavior (GO:0007628)2.60099222
135regulation of dendrite morphogenesis (GO:0048814)2.58899010
136dendrite morphogenesis (GO:0048813)2.58810313
137detection of mechanical stimulus involved in sensory perception (GO:0050974)2.58600894

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human7.16353294
2GBX2_23144817_ChIP-Seq_PC3_Human4.32482582
3JARID2_20064375_ChIP-Seq_MESCs_Mouse3.14374642
4SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.10879832
5* SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.05169450
6PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.88075913
7* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.71136633
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.58833766
9RNF2_18974828_ChIP-Seq_MESCs_Mouse2.58833766
10EZH2_27304074_Chip-Seq_ESCs_Mouse2.56455157
11REST_21632747_ChIP-Seq_MESCs_Mouse2.56356115
12* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.56074581
13JARID2_20075857_ChIP-Seq_MESCs_Mouse2.55219830
14* EED_16625203_ChIP-ChIP_MESCs_Mouse2.50459698
15SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.44238339
16* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.33793971
17* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.28626255
18RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.24911023
19SALL1_21062744_ChIP-ChIP_HESCs_Human2.19064211
20TAF15_26573619_Chip-Seq_HEK293_Human2.18315062
21ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.17895432
22RNF2_27304074_Chip-Seq_ESCs_Mouse2.13321673
23CTBP2_25329375_ChIP-Seq_LNCAP_Human2.12585732
24CTBP1_25329375_ChIP-Seq_LNCAP_Human2.12141313
25DROSHA_22980978_ChIP-Seq_HELA_Human2.11727397
26SUZ12_27294783_Chip-Seq_ESCs_Mouse2.05633775
27EZH2_27294783_Chip-Seq_ESCs_Mouse2.05347400
28IKZF1_21737484_ChIP-ChIP_HCT116_Human2.03195493
29RARB_27405468_Chip-Seq_BRAIN_Mouse1.99148239
30ZFP57_27257070_Chip-Seq_ESCs_Mouse1.97498945
31REST_18959480_ChIP-ChIP_MESCs_Mouse1.96396567
32CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.91691906
33* SMAD4_21799915_ChIP-Seq_A2780_Human1.87067581
34FLI1_27457419_Chip-Seq_LIVER_Mouse1.83933052
35* P300_19829295_ChIP-Seq_ESCs_Human1.82584428
36NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.81787703
37AR_21572438_ChIP-Seq_LNCaP_Human1.81559709
38GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.81261063
39GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.81082079
40SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.76573364
41PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.69093550
42IGF1R_20145208_ChIP-Seq_DFB_Human1.64955800
43PCGF2_27294783_Chip-Seq_ESCs_Mouse1.64671075
44CBX2_27304074_Chip-Seq_ESCs_Mouse1.64343493
45BMI1_23680149_ChIP-Seq_NPCS_Mouse1.63507980
46FUS_26573619_Chip-Seq_HEK293_Human1.59897844
47ZNF274_21170338_ChIP-Seq_K562_Hela1.56221343
48SMAD3_21741376_ChIP-Seq_EPCs_Human1.55743537
49PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.54986740
50POU3F2_20337985_ChIP-ChIP_501MEL_Human1.54580244
51* RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.49215467
52TOP2B_26459242_ChIP-Seq_MCF-7_Human1.48883971
53AR_25329375_ChIP-Seq_VCAP_Human1.47298051
54TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.46215585
55SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.43396221
56PIAS1_25552417_ChIP-Seq_VCAP_Human1.42022611
57SMAD_19615063_ChIP-ChIP_OVARY_Human1.38845819
58OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.36166833
59TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.35403771
60NR3C1_23031785_ChIP-Seq_PC12_Mouse1.34545741
61RNF2_27304074_Chip-Seq_NSC_Mouse1.33453501
62VDR_22108803_ChIP-Seq_LS180_Human1.32712156
63STAT3_23295773_ChIP-Seq_U87_Human1.29018450
64SOX2_21211035_ChIP-Seq_LN229_Gbm1.28724369
65UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.27888282
66LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.27024668
67SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.25317072
68SMAD3_21741376_ChIP-Seq_HESCs_Human1.25231332
69MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.24022658
70TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.22449665
71RING1B_27294783_Chip-Seq_ESCs_Mouse1.21897723
72PRDM14_20953172_ChIP-Seq_ESCs_Human1.18651196
73* TCF4_23295773_ChIP-Seq_U87_Human1.18528506
74ERG_21242973_ChIP-ChIP_JURKAT_Human1.17925489
75AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.17542417
76ARNT_22903824_ChIP-Seq_MCF-7_Human1.17297935
77TP53_16413492_ChIP-PET_HCT116_Human1.16764504
78JUN_21703547_ChIP-Seq_K562_Human1.16217337
79CDX2_19796622_ChIP-Seq_MESCs_Mouse1.12571113
80* RUNX2_22187159_ChIP-Seq_PCA_Human1.12120487
81* AR_19668381_ChIP-Seq_PC3_Human1.12088763
82TP53_18474530_ChIP-ChIP_U2OS_Human1.11849862
83IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.11485360
84CBP_20019798_ChIP-Seq_JUKART_Human1.11485360
85TCF4_22108803_ChIP-Seq_LS180_Human1.10681074
86MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.10312238
87BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.10218816
88CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.10190473
89NR3C1_21868756_ChIP-Seq_MCF10A_Human1.09778919
90CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.08557282
91YAP1_20516196_ChIP-Seq_MESCs_Mouse1.08553593
92ZNF217_24962896_ChIP-Seq_MCF-7_Human1.07810055
93EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.07719947
94SOX9_26525672_Chip-Seq_HEART_Mouse1.06819669
95TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.06671664
96NANOG_18555785_Chip-Seq_ESCs_Mouse1.06592576
97ER_23166858_ChIP-Seq_MCF-7_Human1.06447737
98AHR_22903824_ChIP-Seq_MCF-7_Human1.05330437
99BCAT_22108803_ChIP-Seq_LS180_Human1.04354015
100SMAD4_21741376_ChIP-Seq_EPCs_Human1.03831785
101SMAD4_21741376_ChIP-Seq_HESCs_Human1.03628959
102CTNNB1_20460455_ChIP-Seq_HCT116_Human1.03397346
103KLF5_20875108_ChIP-Seq_MESCs_Mouse1.02171780
104CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.01683880
105GATA1_22025678_ChIP-Seq_K562_Human1.01649240
106RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.00540240
107POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.00538120
108TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.00538120
109RING1B_27294783_Chip-Seq_NPCs_Mouse0.99949693
110SUZ12_27294783_Chip-Seq_NPCs_Mouse0.98478214
111EWS_26573619_Chip-Seq_HEK293_Human0.96635407
112KDM2B_26808549_Chip-Seq_REH_Human0.95852406
113WT1_25993318_ChIP-Seq_PODOCYTE_Human0.94400210
114MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.93518645
115SMAD3_21741376_ChIP-Seq_ESCs_Human0.92542000
116E2F1_18555785_Chip-Seq_ESCs_Mouse0.91890748
117EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.90856332
118* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.90454716
119P53_22127205_ChIP-Seq_FIBROBLAST_Human0.90298261

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003880_abnormal_central_pattern6.49799047
2MP0004859_abnormal_synaptic_plasticity6.10689803
3* MP0003635_abnormal_synaptic_transmissio4.06001412
4MP0009745_abnormal_behavioral_response3.49882985
5MP0004270_analgesia3.33361048
6MP0002063_abnormal_learning/memory/cond3.31062883
7MP0001968_abnormal_touch/_nociception3.18470912
8MP0002064_seizures3.15047051
9MP0005423_abnormal_somatic_nervous2.93049140
10* MP0002572_abnormal_emotion/affect_behav2.89919061
11MP0009046_muscle_twitch2.86710854
12MP0002736_abnormal_nociception_after2.58628205
13MP0002735_abnormal_chemical_nociception2.57818864
14MP0002272_abnormal_nervous_system2.57790417
15MP0001501_abnormal_sleep_pattern2.57538861
16MP0006276_abnormal_autonomic_nervous2.42967773
17MP0001440_abnormal_grooming_behavior2.42412512
18MP0002734_abnormal_mechanical_nocicepti2.36093640
19MP0001486_abnormal_startle_reflex2.35422765
20MP0005187_abnormal_penis_morphology2.28475973
21MP0005645_abnormal_hypothalamus_physiol2.26859621
22MP0002067_abnormal_sensory_capabilities1.99375852
23MP0003787_abnormal_imprinting1.93446935
24MP0000778_abnormal_nervous_system1.92930988
25MP0002184_abnormal_innervation1.87039892
26MP0002733_abnormal_thermal_nociception1.85492179
27MP0009780_abnormal_chondrocyte_physiolo1.84092949
28MP0001970_abnormal_pain_threshold1.80714168
29MP0003329_amyloid_beta_deposits1.79671986
30MP0001529_abnormal_vocalization1.70912918
31MP0002557_abnormal_social/conspecific_i1.70094119
32MP0005646_abnormal_pituitary_gland1.69000008
33MP0001879_abnormal_lymphatic_vessel1.65202780
34MP0003122_maternal_imprinting1.63914523
35MP0005386_behavior/neurological_phenoty1.60235070
36MP0004924_abnormal_behavior1.60235070
37MP0010368_abnormal_lymphatic_system1.58446220
38MP0002822_catalepsy1.58362283
39MP0003879_abnormal_hair_cell1.56658712
40MP0001188_hyperpigmentation1.55095017
41MP0001984_abnormal_olfaction1.54975085
42MP0001986_abnormal_taste_sensitivity1.47955596
43MP0004858_abnormal_nervous_system1.47581039
44MP0004811_abnormal_neuron_physiology1.46381579
45MP0004147_increased_porphyrin_level1.45003079
46MP0008057_abnormal_DNA_replication1.43390307
47MP0001905_abnormal_dopamine_level1.41254544
48MP0008569_lethality_at_weaning1.39417720
49MP0000955_abnormal_spinal_cord1.34705041
50MP0002066_abnormal_motor_capabilities/c1.32416449
51MP0002882_abnormal_neuron_morphology1.29966103
52MP0002909_abnormal_adrenal_gland1.28519542
53MP0001348_abnormal_lacrimal_gland1.25767995
54MP0010386_abnormal_urinary_bladder1.24813290
55MP0004142_abnormal_muscle_tone1.21640360
56MP0001502_abnormal_circadian_rhythm1.19500419
57MP0000569_abnormal_digit_pigmentation1.16399594
58MP0003315_abnormal_perineum_morphology1.12948790
59MP0003633_abnormal_nervous_system1.12129003
60MP0002837_dystrophic_cardiac_calcinosis1.11838205
61MP0004145_abnormal_muscle_electrophysio1.11716375
62MP0002152_abnormal_brain_morphology1.06593812
63MP0004885_abnormal_endolymph1.06088239
64MP0002876_abnormal_thyroid_physiology1.05798101
65MP0008875_abnormal_xenobiotic_pharmacok1.02792616
66MP0003631_nervous_system_phenotype1.01837811
67MP0006292_abnormal_olfactory_placode0.99439240
68MP0003890_abnormal_embryonic-extraembry0.95792811
69MP0001756_abnormal_urination0.95273007
70MP0003123_paternal_imprinting0.95142906
71MP0001963_abnormal_hearing_physiology0.94307907
72MP0002069_abnormal_eating/drinking_beha0.92149732
73MP0005174_abnormal_tail_pigmentation0.92064770
74MP0004742_abnormal_vestibular_system0.89984997
75MP0000751_myopathy0.89816643
76MP0000631_abnormal_neuroendocrine_gland0.88533112
77MP0008874_decreased_physiological_sensi0.88363994
78MP0005551_abnormal_eye_electrophysiolog0.88356504
79MP0005253_abnormal_eye_physiology0.88250072
80MP0003690_abnormal_glial_cell0.87493586
81MP0003045_fibrosis0.87397354
82MP0008872_abnormal_physiological_respon0.84904953
83MP0004484_altered_response_of0.83503973
84MP0002229_neurodegeneration0.83385637
85MP0005084_abnormal_gallbladder_morpholo0.82018507
86MP0000647_abnormal_sebaceous_gland0.81858659
87MP0004085_abnormal_heartbeat0.80977294
88MP0000604_amyloidosis0.79273644
89MP0001664_abnormal_digestion0.79107001
90MP0005409_darkened_coat_color0.78152546
91MP0002102_abnormal_ear_morphology0.77946190
92MP0003632_abnormal_nervous_system0.77557080
93MP0005535_abnormal_body_temperature0.76795825
94MP0003121_genomic_imprinting0.74364184
95MP0004215_abnormal_myocardial_fiber0.72616588
96MP0000026_abnormal_inner_ear0.71898561
97MP0002752_abnormal_somatic_nervous0.71588351
98MP0001177_atelectasis0.70446681
99MP0002638_abnormal_pupillary_reflex0.68652910
100MP0003119_abnormal_digestive_system0.68200777
101MP0003252_abnormal_bile_duct0.65994153
102MP0005499_abnormal_olfactory_system0.65793123
103MP0005394_taste/olfaction_phenotype0.65793123
104MP0005171_absent_coat_pigmentation0.65551045
105MP0003634_abnormal_glial_cell0.64397118
106MP0010769_abnormal_survival0.62231648
107MP0010768_mortality/aging0.61140376
108MP0001485_abnormal_pinna_reflex0.59227620
109MP0008877_abnormal_DNA_methylation0.57588012
110MP0003283_abnormal_digestive_organ0.56272562
111MP0000013_abnormal_adipose_tissue0.56212347
112MP0004510_myositis0.54764190
113MP0003861_abnormal_nervous_system0.53211457
114MP0005379_endocrine/exocrine_gland_phen0.53063715
115MP0003137_abnormal_impulse_conducting0.52603320
116MP0001943_abnormal_respiration0.52162120
117MP0006072_abnormal_retinal_apoptosis0.51687723
118MP0002751_abnormal_autonomic_nervous0.49689327
119MP0002082_postnatal_lethality0.49529982
120MP0010770_preweaning_lethality0.49529982
121MP0001765_abnormal_ion_homeostasis0.49472030
122MP0004043_abnormal_pH_regulation0.48920150

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)9.02577164
2Focal seizures (HP:0007359)6.16878205
3Epileptic encephalopathy (HP:0200134)5.38689439
4Atonic seizures (HP:0010819)5.22970134
5Myokymia (HP:0002411)5.18271944
6Visual hallucinations (HP:0002367)4.97319069
7Febrile seizures (HP:0002373)4.95985600
8Absence seizures (HP:0002121)4.92394829
9Hyperventilation (HP:0002883)4.92352032
10Dialeptic seizures (HP:0011146)4.70237214
11Progressive cerebellar ataxia (HP:0002073)4.46372560
12Generalized tonic-clonic seizures (HP:0002069)4.21510621
13Broad-based gait (HP:0002136)3.94093802
14Male infertility (HP:0003251)3.82817018
15Thyroid-stimulating hormone excess (HP:0002925)3.71271503
16Amblyopia (HP:0000646)3.51900471
17Excessive salivation (HP:0003781)3.46074057
18Drooling (HP:0002307)3.46074057
19Truncal ataxia (HP:0002078)3.45310169
20Supranuclear gaze palsy (HP:0000605)3.36316437
21Gaze-evoked nystagmus (HP:0000640)3.22937648
22Cerebral inclusion bodies (HP:0100314)3.16237746
23Impaired vibration sensation in the lower limbs (HP:0002166)3.07290562
24Progressive inability to walk (HP:0002505)3.07221999
25Hemiparesis (HP:0001269)3.07069531
26Diplopia (HP:0000651)3.01689192
27Abnormality of binocular vision (HP:0011514)3.01689192
28Absent speech (HP:0001344)2.97145011
29Choroideremia (HP:0001139)2.96113874
30Epileptiform EEG discharges (HP:0011182)2.95085586
31Dysdiadochokinesis (HP:0002075)2.88473084
32Inability to walk (HP:0002540)2.88069893
33Dysmetria (HP:0001310)2.87227106
34Poor eye contact (HP:0000817)2.87146502
35Neurofibrillary tangles (HP:0002185)2.85340599
36Anxiety (HP:0000739)2.81910986
37Abnormal eating behavior (HP:0100738)2.77604527
38Short chin (HP:0000331)2.72815666
39Action tremor (HP:0002345)2.65671420
40Mutism (HP:0002300)2.63289269
41Impaired smooth pursuit (HP:0007772)2.62070768
42Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.59147878
43Degeneration of the lateral corticospinal tracts (HP:0002314)2.59147878
44Hypophosphatemic rickets (HP:0004912)2.56826041
45Genetic anticipation (HP:0003743)2.56430578
46Abnormal social behavior (HP:0012433)2.56419716
47Impaired social interactions (HP:0000735)2.56419716
48Abnormality of salivation (HP:0100755)2.55913586
49EEG with generalized epileptiform discharges (HP:0011198)2.55241997
50Depression (HP:0000716)2.55178866
51Protruding tongue (HP:0010808)2.55047305
52Urinary bladder sphincter dysfunction (HP:0002839)2.48180893
53Scanning speech (HP:0002168)2.45618462
54Intestinal atresia (HP:0011100)2.43717823
55Intellectual disability, severe (HP:0010864)2.40373628
56Hypothermia (HP:0002045)2.39310831
57Flat occiput (HP:0005469)2.38059741
58Blue irides (HP:0000635)2.35217854
59Postural instability (HP:0002172)2.33664405
60Hypsarrhythmia (HP:0002521)2.33649072
61Polyphagia (HP:0002591)2.29250972
62Mesangial abnormality (HP:0001966)2.28676340
63Bradykinesia (HP:0002067)2.28539463
64Abnormality of ocular smooth pursuit (HP:0000617)2.27531587
65Fetal akinesia sequence (HP:0001989)2.26555597
66Decreased circulating renin level (HP:0003351)2.25025551
67Thickened helices (HP:0000391)2.24120779
68Psychosis (HP:0000709)2.18397687
69Spastic tetraplegia (HP:0002510)2.16664987
70Morphological abnormality of the pyramidal tract (HP:0002062)2.15827965
71Generalized myoclonic seizures (HP:0002123)2.15701604
72Abnormality of the labia majora (HP:0012881)2.14327870
73Overgrowth (HP:0001548)2.14035305
74Hydroureter (HP:0000072)2.13708306
75Dynein arm defect of respiratory motile cilia (HP:0012255)2.10793855
76Absent/shortened dynein arms (HP:0200106)2.10793855
77Generalized hypopigmentation of hair (HP:0011358)2.10741721
78Torticollis (HP:0000473)2.08163032
79Ankle clonus (HP:0011448)2.07810609
80Stereotypic behavior (HP:0000733)2.06436152
81Insidious onset (HP:0003587)2.06169983
82Termporal pattern (HP:0011008)2.06169983
83Gait imbalance (HP:0002141)2.04875925
84Fair hair (HP:0002286)2.04753207
85Status epilepticus (HP:0002133)2.04727380
86Attenuation of retinal blood vessels (HP:0007843)2.04668357
87Nephrogenic diabetes insipidus (HP:0009806)2.01967922
88Abnormality of the lower motor neuron (HP:0002366)2.00748414
89Prolonged partial thromboplastin time (HP:0003645)2.00265727
90Delusions (HP:0000746)1.99337826
91Absent frontal sinuses (HP:0002688)1.99217449
92Urinary urgency (HP:0000012)1.98411697
93Impaired vibratory sensation (HP:0002495)1.95976362
94Abnormality of the corticospinal tract (HP:0002492)1.95407682
95Agitation (HP:0000713)1.92584917
96Inappropriate behavior (HP:0000719)1.92531450
97Gait ataxia (HP:0002066)1.91990478
98Cerebral hypomyelination (HP:0006808)1.91709191
99Widely spaced teeth (HP:0000687)1.91661116
100Genital tract atresia (HP:0001827)1.89818392
101Curly hair (HP:0002212)1.88258582
102Incomplete penetrance (HP:0003829)1.87927596
103Enlarged epiphyses (HP:0010580)1.87834597
104Retinal dysplasia (HP:0007973)1.87831265
105Chronic hepatic failure (HP:0100626)1.86502121
106Dysmetric saccades (HP:0000641)1.86092619
107Abnormality of the astrocytes (HP:0100707)1.85797070
108Astrocytoma (HP:0009592)1.85797070
109Rib fusion (HP:0000902)1.85186905
110Amyotrophic lateral sclerosis (HP:0007354)1.84379906
111Vaginal atresia (HP:0000148)1.83131769
112Exotropia (HP:0000577)1.82679888
113Poor coordination (HP:0002370)1.81675198
114Limb dystonia (HP:0002451)1.81659070
115Clumsiness (HP:0002312)1.81100732
116Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.80433959
117Dyskinesia (HP:0100660)1.77900098
118Intellectual disability, progressive (HP:0006887)1.77087060
119Pancreatic cysts (HP:0001737)1.75177877
120Aplasia/Hypoplasia involving the carpal bones (HP:0006502)1.74986527
121Spastic gait (HP:0002064)1.74703416
122Postnatal microcephaly (HP:0005484)1.73609185
123Esotropia (HP:0000565)1.72078815
124Decreased testicular size (HP:0008734)1.71564054
125Medial flaring of the eyebrow (HP:0010747)1.71479274
126Focal dystonia (HP:0004373)1.71261069
127Specific learning disability (HP:0001328)1.70210883
128Narrow nasal bridge (HP:0000446)1.70035745
129Pheochromocytoma (HP:0002666)1.68266610
130Gastroesophageal reflux (HP:0002020)1.68162981
131Megalencephaly (HP:0001355)1.67823116
132Poikiloderma (HP:0001029)1.67177710
133Lower limb muscle weakness (HP:0007340)1.66524882
134Hyperthyroidism (HP:0000836)1.66199914
135Congenital primary aphakia (HP:0007707)1.65813849
136CNS hypomyelination (HP:0003429)1.65341383
137Abnormal ciliary motility (HP:0012262)1.65240721
138Hemiplegia (HP:0002301)1.64779635
139Akinesia (HP:0002304)1.64128311
140Abnormal hair whorl (HP:0010721)1.63903313
141Subacute progressive viral hepatitis (HP:0006572)1.63710059
142Hypoplastic labia majora (HP:0000059)1.63387241

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK35.42495429
2EPHA44.67399851
3CASK3.27629011
4MAP3K43.15040059
5RIPK43.04428290
6MAP2K72.88909185
7MAP3K122.87858761
8MARK12.75129237
9TNIK2.66715703
10MAP3K92.61204525
11MINK12.33379653
12PNCK2.23747632
13MAP2K42.17365280
14CSNK1G12.15493551
15ERBB31.92172597
16NTRK21.90408102
17CSNK1A1L1.90092171
18DAPK11.75045987
19PLK21.74197956
20CSNK1G31.73940445
21PINK11.69492538
22SIK21.63614962
23ARAF1.59071972
24KSR11.57814933
25MAPK131.57335681
26DAPK21.56687535
27FES1.56021128
28GRK51.52703093
29PAK61.50879091
30KSR21.46287604
31BMPR21.45551284
32PRPF4B1.43926445
33SIK31.42107122
34CDK51.38384197
35PRKCG1.36012980
36CAMK2A1.29299365
37CAMK2B1.28392992
38NTRK11.27706952
39INSRR1.24309451
40FRK1.22323929
41NUAK11.15563480
42PTK2B1.14257413
43MAPK151.14160973
44NME11.13428225
45TRIM281.08478336
46FGR1.05129371
47RAF11.03905936
48MAP3K131.03441503
49MYLK1.03004409
50GRK71.02611092
51CDK191.00391829
52CAMKK10.96417470
53AKT30.93434509
54CSNK1D0.92501757
55PRKD30.92163500
56MAP3K60.84550071
57STK380.83781602
58MAP3K50.82956142
59MAP3K20.82036744
60ACVR1B0.81614747
61CAMK10.81587114
62LATS20.79369044
63CDK180.78757931
64FER0.78039319
65SGK10.75749218
66MET0.73571352
67CDK150.73478700
68CDK140.72083463
69DYRK1A0.70002117
70SGK20.69967576
71CSNK1A10.69214478
72UHMK10.68834284
73ADRBK20.67269215
74PRKCE0.65991198
75SGK2230.64698540
76SGK4940.64698540
77PAK30.63340841
78CAMKK20.63274601
79PHKG20.63222824
80PHKG10.63222824
81SRPK10.62496424
82CDK11A0.62416613
83STK30.62148327
84TYRO30.61389717
85CAMK2D0.60707583
86OXSR10.59356885
87ERBB20.59182810
88BRAF0.58227236
89TNK20.57539539
90CSNK1G20.55409816
91MAP3K70.55210205
92CAMK1G0.54035822
93STK110.51813135
94DYRK20.51600153
95MARK20.51220513
96CAMK2G0.49969847
97ADRBK10.45495653
98WNK30.44424442
99MAP3K10.44190912
100RPS6KA30.43113315
101GRK60.41580249
102STK240.41473642
103FYN0.41157535
104FLT30.41038813
105TIE10.39519263
106BMX0.38427526
107MUSK0.38070878
108PRKCZ0.37598402
109MAPK100.36426923
110MAPK120.36193754
111PRKACA0.36160504
112EGFR0.35722629
113SGK30.35614695
114BCR0.35132651
115PDK10.34230495
116WNK40.34157668
117PRKCH0.33645916
118TESK20.33149337
119CDK60.32891807
120PRKCA0.32668548
121CDK30.32569132
122RET0.32459031
123MST40.32430214
124PRKG10.32350573
125MST1R0.32035962
126CCNB10.31942717
127CDC70.31844706
128MAP2K10.31500922
129ROCK20.30739917
130WNK10.30684014
131RPS6KA40.30310338
132PRKCB0.28470673
133CAMK40.28156665
134CDC42BPA0.25837358

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.85072771
2Long-term potentiation_Homo sapiens_hsa047203.06948551
3Retrograde endocannabinoid signaling_Homo sapiens_hsa047233.00741763
4Circadian entrainment_Homo sapiens_hsa047132.90223075
5GABAergic synapse_Homo sapiens_hsa047272.80883690
6Synaptic vesicle cycle_Homo sapiens_hsa047212.80346888
7Glutamatergic synapse_Homo sapiens_hsa047242.80289770
8Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.76792607
9Amphetamine addiction_Homo sapiens_hsa050312.72208369
10Morphine addiction_Homo sapiens_hsa050322.64872082
11Olfactory transduction_Homo sapiens_hsa047402.39264868
12Salivary secretion_Homo sapiens_hsa049702.38113947
13Taste transduction_Homo sapiens_hsa047422.22721615
14Dopaminergic synapse_Homo sapiens_hsa047282.16931649
15Renin secretion_Homo sapiens_hsa049241.97265434
16Long-term depression_Homo sapiens_hsa047301.96078283
17Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.94713189
18Serotonergic synapse_Homo sapiens_hsa047261.91880911
19Caffeine metabolism_Homo sapiens_hsa002321.91020507
20Gastric acid secretion_Homo sapiens_hsa049711.85507760
21Insulin secretion_Homo sapiens_hsa049111.85257500
22Calcium signaling pathway_Homo sapiens_hsa040201.84324796
23Collecting duct acid secretion_Homo sapiens_hsa049661.79571847
24Aldosterone synthesis and secretion_Homo sapiens_hsa049251.73804561
25Cholinergic synapse_Homo sapiens_hsa047251.65993780
26Oxytocin signaling pathway_Homo sapiens_hsa049211.65724658
27Cocaine addiction_Homo sapiens_hsa050301.58999577
28Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.44819343
29Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.42296025
30GnRH signaling pathway_Homo sapiens_hsa049121.38879242
31Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.34478282
32cAMP signaling pathway_Homo sapiens_hsa040241.30101241
33Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.29162111
34Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.25192867
35Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.22930987
36Cardiac muscle contraction_Homo sapiens_hsa042601.22903840
37Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.22611047
38Gap junction_Homo sapiens_hsa045401.21668436
39Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.21208952
40Phosphatidylinositol signaling system_Homo sapiens_hsa040701.18644867
41Axon guidance_Homo sapiens_hsa043601.17414758
42Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.14917737
43Alzheimers disease_Homo sapiens_hsa050101.10935438
44Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050141.10363049
45Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.08367374
46Estrogen signaling pathway_Homo sapiens_hsa049151.07469399
47Histidine metabolism_Homo sapiens_hsa003401.07366417
48Phototransduction_Homo sapiens_hsa047441.06430545
49Oxidative phosphorylation_Homo sapiens_hsa001901.05342034
50Vibrio cholerae infection_Homo sapiens_hsa051101.04680317
51Melanogenesis_Homo sapiens_hsa049161.03489194
52cGMP-PKG signaling pathway_Homo sapiens_hsa040220.99830699
53Glioma_Homo sapiens_hsa052140.96183037
54Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.94014662
55Type II diabetes mellitus_Homo sapiens_hsa049300.93980277
56Vascular smooth muscle contraction_Homo sapiens_hsa042700.93313645
57Chemical carcinogenesis_Homo sapiens_hsa052040.86019864
58Arginine biosynthesis_Homo sapiens_hsa002200.85273336
59Drug metabolism - other enzymes_Homo sapiens_hsa009830.84640180
60Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.84030627
61ErbB signaling pathway_Homo sapiens_hsa040120.83695837
62Arginine and proline metabolism_Homo sapiens_hsa003300.83393109
63Non-homologous end-joining_Homo sapiens_hsa034500.82797842
64Pancreatic secretion_Homo sapiens_hsa049720.82063770
65Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.81768170
66Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.81085956
67Oocyte meiosis_Homo sapiens_hsa041140.77400242
68Dorso-ventral axis formation_Homo sapiens_hsa043200.74995885
69Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.74736618
70Choline metabolism in cancer_Homo sapiens_hsa052310.74404059
71Phospholipase D signaling pathway_Homo sapiens_hsa040720.70557380
72African trypanosomiasis_Homo sapiens_hsa051430.68954500
73Linoleic acid metabolism_Homo sapiens_hsa005910.67884833
74Steroid hormone biosynthesis_Homo sapiens_hsa001400.67881675
75Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.67752699
76Thyroid hormone synthesis_Homo sapiens_hsa049180.67602413
77Dilated cardiomyopathy_Homo sapiens_hsa054140.67258160
78MAPK signaling pathway_Homo sapiens_hsa040100.65363612
79Glucagon signaling pathway_Homo sapiens_hsa049220.63958921
80beta-Alanine metabolism_Homo sapiens_hsa004100.63919762
81Tight junction_Homo sapiens_hsa045300.62724028
82Type I diabetes mellitus_Homo sapiens_hsa049400.62340903
83Retinol metabolism_Homo sapiens_hsa008300.60968642
84Parkinsons disease_Homo sapiens_hsa050120.60120321
85Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.58989417
86Huntingtons disease_Homo sapiens_hsa050160.57240126
87Ras signaling pathway_Homo sapiens_hsa040140.57072607
88Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.56642571
89Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.54183590
90Vitamin B6 metabolism_Homo sapiens_hsa007500.52796425
91Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.52189643
92Primary bile acid biosynthesis_Homo sapiens_hsa001200.52185254
93Renin-angiotensin system_Homo sapiens_hsa046140.50920671
94VEGF signaling pathway_Homo sapiens_hsa043700.49684063
95Tryptophan metabolism_Homo sapiens_hsa003800.47057112
96Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.45412563
97Rap1 signaling pathway_Homo sapiens_hsa040150.45330977
98Alcoholism_Homo sapiens_hsa050340.43634599
99Pentose and glucuronate interconversions_Homo sapiens_hsa000400.43435272
100Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.43033854
101Prion diseases_Homo sapiens_hsa050200.42117278
102Wnt signaling pathway_Homo sapiens_hsa043100.41075756
103Inositol phosphate metabolism_Homo sapiens_hsa005620.39816593
104Rheumatoid arthritis_Homo sapiens_hsa053230.39411861
105Maturity onset diabetes of the young_Homo sapiens_hsa049500.39302151
106alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.38173378
107Phenylalanine metabolism_Homo sapiens_hsa003600.37634295
108Selenocompound metabolism_Homo sapiens_hsa004500.35660807
109Ovarian steroidogenesis_Homo sapiens_hsa049130.35227225
110Circadian rhythm_Homo sapiens_hsa047100.35088667
111Cyanoamino acid metabolism_Homo sapiens_hsa004600.34896506
112Neurotrophin signaling pathway_Homo sapiens_hsa047220.34531278
113Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.32766781
114Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.32619340
115Ether lipid metabolism_Homo sapiens_hsa005650.31041884
116Carbohydrate digestion and absorption_Homo sapiens_hsa049730.30946371
117Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.30490155
118Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.28325484
119Mineral absorption_Homo sapiens_hsa049780.28028996
120Sphingolipid signaling pathway_Homo sapiens_hsa040710.28021871
121Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.26776646
122Bile secretion_Homo sapiens_hsa049760.26079009
123Thyroid hormone signaling pathway_Homo sapiens_hsa049190.22550526
124Butanoate metabolism_Homo sapiens_hsa006500.21637219
125Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.20947159
126Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.20663485
127Glycerophospholipid metabolism_Homo sapiens_hsa005640.18597209
128Phagosome_Homo sapiens_hsa041450.18529856
129Insulin signaling pathway_Homo sapiens_hsa049100.17001649
130mTOR signaling pathway_Homo sapiens_hsa041500.16520091
131Renal cell carcinoma_Homo sapiens_hsa052110.16495413

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