CPNE4

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 highly conserved copine family. It encodes a calcium-dependent, phospholipid-binding protein, which may be involved in membrane trafficking, mitogenesis and development. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)6.05339793
2regulation of short-term neuronal synaptic plasticity (GO:0048172)6.02127922
3synaptic vesicle exocytosis (GO:0016079)5.80436367
4glutamate secretion (GO:0014047)5.76776894
5locomotory exploration behavior (GO:0035641)5.72760712
6positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.46182249
7vocalization behavior (GO:0071625)5.43147286
8regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.32494728
9synaptic vesicle docking involved in exocytosis (GO:0016081)5.23249783
10regulation of glutamate receptor signaling pathway (GO:1900449)5.21519793
11regulation of synaptic vesicle exocytosis (GO:2000300)5.20097721
12positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.13718593
13protein localization to synapse (GO:0035418)4.91919587
14regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.86205402
15exploration behavior (GO:0035640)4.84211162
16neuron cell-cell adhesion (GO:0007158)4.78515757
17neuronal action potential propagation (GO:0019227)4.77699472
18regulation of synaptic vesicle transport (GO:1902803)4.62328955
19neurotransmitter secretion (GO:0007269)4.48118124
20regulation of neuronal synaptic plasticity (GO:0048168)4.43933607
21ionotropic glutamate receptor signaling pathway (GO:0035235)4.33989379
22regulation of long-term neuronal synaptic plasticity (GO:0048169)4.12699504
23synaptic transmission, glutamatergic (GO:0035249)4.05673248
24proline transport (GO:0015824)4.03631295
25neurotransmitter-gated ion channel clustering (GO:0072578)4.02073715
26regulation of synapse structural plasticity (GO:0051823)3.98923878
27neuronal ion channel clustering (GO:0045161)3.92694419
28glutamate receptor signaling pathway (GO:0007215)3.89667851
29layer formation in cerebral cortex (GO:0021819)3.89572945
30neuron-neuron synaptic transmission (GO:0007270)3.88883162
31negative regulation of dendrite morphogenesis (GO:0050774)3.86530811
32membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.77784018
33regulation of excitatory postsynaptic membrane potential (GO:0060079)3.72635947
34positive regulation of membrane potential (GO:0045838)3.68437544
35regulation of voltage-gated calcium channel activity (GO:1901385)3.68246331
36gamma-aminobutyric acid transport (GO:0015812)3.61944290
37neurotransmitter transport (GO:0006836)3.61078669
38neuron recognition (GO:0008038)3.60516351
39dendritic spine morphogenesis (GO:0060997)3.60258464
40positive regulation of synaptic transmission, GABAergic (GO:0032230)3.58262797
41negative regulation of synaptic transmission, GABAergic (GO:0032229)3.55080063
42regulation of postsynaptic membrane potential (GO:0060078)3.54664110
43activation of protein kinase A activity (GO:0034199)3.54562335
44innervation (GO:0060384)3.54191147
45postsynaptic membrane organization (GO:0001941)3.54164757
46regulation of synaptic plasticity (GO:0048167)3.53677623
47long-term memory (GO:0007616)3.53205557
48cell migration in hindbrain (GO:0021535)3.48097382
49regulation of neurotransmitter secretion (GO:0046928)3.46660576
50presynaptic membrane assembly (GO:0097105)3.43846025
51mechanosensory behavior (GO:0007638)3.42034919
52synaptic vesicle endocytosis (GO:0048488)3.40912265
53detection of calcium ion (GO:0005513)3.39055061
54regulation of neurotransmitter levels (GO:0001505)3.38443637
55long-term synaptic potentiation (GO:0060291)3.35089453
56membrane depolarization during action potential (GO:0086010)3.34099573
57regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.33866600
58neurotransmitter uptake (GO:0001504)3.33592822
59positive regulation of synapse maturation (GO:0090129)3.30460045
60neuromuscular process controlling balance (GO:0050885)3.29856653
61regulation of synaptic transmission, glutamatergic (GO:0051966)3.28706741
62positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.28700667
63axonal fasciculation (GO:0007413)3.28422522
64negative regulation of dendrite development (GO:2000171)3.27405245
65regulation of vesicle fusion (GO:0031338)3.27356572
66cellular potassium ion homeostasis (GO:0030007)3.26493923
67regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.23024985
68regulation of dendritic spine morphogenesis (GO:0061001)3.21716319
69membrane depolarization (GO:0051899)3.21265635
70regulation of neurotransmitter transport (GO:0051588)3.18545961
71presynaptic membrane organization (GO:0097090)3.17223975
72cerebellar Purkinje cell differentiation (GO:0021702)3.15048717
73C4-dicarboxylate transport (GO:0015740)3.14916778
74gamma-aminobutyric acid signaling pathway (GO:0007214)3.14318017
75cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.13489339
76positive regulation of neurotransmitter secretion (GO:0001956)3.13039105
77G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.11146165
78transmission of nerve impulse (GO:0019226)3.10805692
79positive regulation of neurotransmitter transport (GO:0051590)3.08344504
80neuromuscular process controlling posture (GO:0050884)3.07733312
81response to auditory stimulus (GO:0010996)3.07514972
82auditory behavior (GO:0031223)3.06444487
83positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.06344429
84vesicle transport along microtubule (GO:0047496)3.05670544
85synapse assembly (GO:0007416)3.04843103
86regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.04680045
87regulation of respiratory system process (GO:0044065)3.03165237
88synaptic transmission (GO:0007268)3.03021849
89negative regulation of cytosolic calcium ion concentration (GO:0051481)3.01975238
90sodium ion export (GO:0071436)3.01170930
91negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.00606483
92regulation of synaptic transmission (GO:0050804)3.00343297
93dendrite morphogenesis (GO:0048813)2.99332889
94cell communication by electrical coupling (GO:0010644)2.98650065
95startle response (GO:0001964)2.98293046
96positive regulation of synaptic transmission (GO:0050806)2.97888782
97regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO2.97880322
98long-chain fatty acid biosynthetic process (GO:0042759)2.94837628
99neuromuscular process (GO:0050905)2.94211956
100cochlea development (GO:0090102)2.93744286
101L-amino acid import (GO:0043092)2.93590712
102calcium ion-dependent exocytosis (GO:0017156)2.91388637
103behavioral response to cocaine (GO:0048148)2.91248302
104learning (GO:0007612)2.90698567
105righting reflex (GO:0060013)2.88600563
106cerebellar granule cell differentiation (GO:0021707)2.88407183
107fatty acid elongation (GO:0030497)2.88341271
108calcium-mediated signaling using intracellular calcium source (GO:0035584)2.87794539
109organelle transport along microtubule (GO:0072384)2.86367776
110behavioral defense response (GO:0002209)2.85993815
111behavioral fear response (GO:0001662)2.85993815
112intraspecies interaction between organisms (GO:0051703)2.85847082
113social behavior (GO:0035176)2.85847082
114membrane hyperpolarization (GO:0060081)2.85703512
115response to histamine (GO:0034776)2.85552358
116G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.85099498
117regulation of synaptic transmission, GABAergic (GO:0032228)2.85046853
118regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)2.82552525
119regulation of cardiac muscle cell contraction (GO:0086004)2.80478172
120regulation of dendritic spine development (GO:0060998)2.79964466
121positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.78710887
122cell communication involved in cardiac conduction (GO:0086065)2.75868182
123potassium ion import (GO:0010107)2.75676119
124potassium ion homeostasis (GO:0055075)2.75618549
125serotonin metabolic process (GO:0042428)2.75147902
126regulation of cell communication by electrical coupling (GO:0010649)2.73691218
127regulation of calcium ion-dependent exocytosis (GO:0017158)2.72367929
128cellular sodium ion homeostasis (GO:0006883)2.72084396
129regulation of respiratory gaseous exchange (GO:0043576)2.69717006
130positive regulation of dendritic spine development (GO:0060999)2.68460282
131regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)2.63540774
132chemosensory behavior (GO:0007635)2.63445586

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.79177292
2GBX2_23144817_ChIP-Seq_PC3_Human3.74554861
3* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.22712920
4JARID2_20064375_ChIP-Seq_MESCs_Mouse3.14824139
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.13294149
6* REST_21632747_ChIP-Seq_MESCs_Mouse2.76376486
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.73833877
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.73833877
9JARID2_20075857_ChIP-Seq_MESCs_Mouse2.67402124
10SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.65827364
11SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.56291864
12MTF2_20144788_ChIP-Seq_MESCs_Mouse2.53821953
13SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.52731808
14SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.51556443
15EZH2_27304074_Chip-Seq_ESCs_Mouse2.50837851
16* RARB_27405468_Chip-Seq_BRAIN_Mouse2.36278751
17DROSHA_22980978_ChIP-Seq_HELA_Human2.32747894
18* REST_18959480_ChIP-ChIP_MESCs_Mouse2.25758301
19EED_16625203_ChIP-ChIP_MESCs_Mouse2.25256538
20SUZ12_27294783_Chip-Seq_ESCs_Mouse2.23208711
21RNF2_27304074_Chip-Seq_ESCs_Mouse2.17415651
22EZH2_27294783_Chip-Seq_ESCs_Mouse2.15713641
23NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.10851426
24CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.02019523
25CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.99623316
26GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.95423589
27ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.93582045
28CTBP2_25329375_ChIP-Seq_LNCAP_Human1.92713190
29AR_21572438_ChIP-Seq_LNCaP_Human1.89172991
30IKZF1_21737484_ChIP-ChIP_HCT116_Human1.88251172
31* TAF15_26573619_Chip-Seq_HEK293_Human1.84604196
32CTBP1_25329375_ChIP-Seq_LNCAP_Human1.77785977
33* SMAD4_21799915_ChIP-Seq_A2780_Human1.73549399
34MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.69977455
35SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.62945468
36TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.61985790
37EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.60809126
38ZFP57_27257070_Chip-Seq_ESCs_Mouse1.53621543
39ERG_21242973_ChIP-ChIP_JURKAT_Human1.50702810
40PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.49271940
41MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.48408919
42P300_19829295_ChIP-Seq_ESCs_Human1.48329318
43NR3C1_23031785_ChIP-Seq_PC12_Mouse1.44678129
44BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.42797416
45SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.41842676
46TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.36637808
47AR_25329375_ChIP-Seq_VCAP_Human1.36610623
48BMI1_23680149_ChIP-Seq_NPCS_Mouse1.36325329
49* SOX2_21211035_ChIP-Seq_LN229_Gbm1.35016045
50ZNF274_21170338_ChIP-Seq_K562_Hela1.34448291
51PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.33410470
52SMAD3_21741376_ChIP-Seq_EPCs_Human1.31042967
53NANOG_18555785_Chip-Seq_ESCs_Mouse1.30553346
54TOP2B_26459242_ChIP-Seq_MCF-7_Human1.29534593
55IGF1R_20145208_ChIP-Seq_DFB_Human1.29339953
56RING1B_27294783_Chip-Seq_ESCs_Mouse1.29092966
57RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.26649601
58* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.24718271
59* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.24357453
60CBX2_27304074_Chip-Seq_ESCs_Mouse1.24259709
61* STAT3_23295773_ChIP-Seq_U87_Human1.23874543
62SMAD_19615063_ChIP-ChIP_OVARY_Human1.23030734
63* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.21227825
64DNAJC2_21179169_ChIP-ChIP_NT2_Human1.19544671
65PIAS1_25552417_ChIP-Seq_VCAP_Human1.19277203
66RNF2_27304074_Chip-Seq_NSC_Mouse1.18450172
67ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.17675343
68TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.16619708
69P53_22127205_ChIP-Seq_FIBROBLAST_Human1.16568616
70ER_23166858_ChIP-Seq_MCF-7_Human1.16503841
71* AR_19668381_ChIP-Seq_PC3_Human1.16361614
72GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.11913775
73TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.11749495
74AHR_22903824_ChIP-Seq_MCF-7_Human1.11152808
75PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.11087476
76VDR_22108803_ChIP-Seq_LS180_Human1.10521831
77WT1_25993318_ChIP-Seq_PODOCYTE_Human1.10125022
78ARNT_22903824_ChIP-Seq_MCF-7_Human1.09920982
79CDX2_19796622_ChIP-Seq_MESCs_Mouse1.09778263
80P53_22387025_ChIP-Seq_ESCs_Mouse1.09118023
81EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.08151438
82IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.07231785
83CBP_20019798_ChIP-Seq_JUKART_Human1.07231785
84EP300_21415370_ChIP-Seq_HL-1_Mouse1.06477564
85AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.05969357
86RING1B_27294783_Chip-Seq_NPCs_Mouse1.04685960
87KDM2B_26808549_Chip-Seq_REH_Human1.04581200
88* TCF4_23295773_ChIP-Seq_U87_Human1.04460655
89SALL1_21062744_ChIP-ChIP_HESCs_Human1.04234377
90TAL1_26923725_Chip-Seq_HPCs_Mouse1.04227805
91* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.04226568
92PRDM14_20953172_ChIP-Seq_ESCs_Human1.04207419
93EWS_26573619_Chip-Seq_HEK293_Human1.02678281
94YAP1_20516196_ChIP-Seq_MESCs_Mouse1.01897433
95* LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.01812866
96MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.01142864
97JUN_21703547_ChIP-Seq_K562_Human0.99275086
98E2F1_18555785_Chip-Seq_ESCs_Mouse0.99043526
99RUNX2_22187159_ChIP-Seq_PCA_Human0.98543060
100POU3F2_20337985_ChIP-ChIP_501MEL_Human0.98517533
101SMAD3_21741376_ChIP-Seq_ESCs_Human0.98385721
102SMAD3_21741376_ChIP-Seq_HESCs_Human0.98314571
103STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.98307694
104CMYC_18555785_Chip-Seq_ESCs_Mouse0.97779632
105BCAT_22108803_ChIP-Seq_LS180_Human0.96468009
106* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.95658201
107NR3C1_21868756_ChIP-Seq_MCF10A_Human0.94530563
108VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.92775923
109FUS_26573619_Chip-Seq_HEK293_Human0.92397368
110ZFP281_18757296_ChIP-ChIP_E14_Mouse0.91467172
111* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.91202708
112SMAD4_21741376_ChIP-Seq_HESCs_Human0.91026944
113* TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.90838498
114* TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.89801097
115RXR_22108803_ChIP-Seq_LS180_Human0.88816861
116KDM2B_26808549_Chip-Seq_K562_Human0.87580394
117WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.86952680
118POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.86101485
119TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.86101485
120RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.85079671
121TP53_18474530_ChIP-ChIP_U2OS_Human0.84644239
122* CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.84230804

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.49787588
2MP0003880_abnormal_central_pattern4.97296586
3MP0003635_abnormal_synaptic_transmissio4.07880624
4MP0004270_analgesia4.07262310
5MP0001968_abnormal_touch/_nociception3.63647178
6MP0002735_abnormal_chemical_nociception3.58916202
7MP0009745_abnormal_behavioral_response3.30424169
8MP0002063_abnormal_learning/memory/cond3.25881063
9MP0009046_muscle_twitch3.11232447
10MP0002064_seizures3.11162354
11MP0002734_abnormal_mechanical_nocicepti2.94006411
12MP0002736_abnormal_nociception_after2.93250839
13MP0002572_abnormal_emotion/affect_behav2.74022874
14MP0002272_abnormal_nervous_system2.63414894
15MP0002733_abnormal_thermal_nociception2.44621042
16MP0005423_abnormal_somatic_nervous2.38847241
17MP0004858_abnormal_nervous_system2.35480022
18MP0001486_abnormal_startle_reflex2.35386527
19MP0006276_abnormal_autonomic_nervous2.34798338
20MP0001970_abnormal_pain_threshold2.28076685
21MP0001501_abnormal_sleep_pattern2.09274034
22MP0001440_abnormal_grooming_behavior2.08155529
23MP0002067_abnormal_sensory_capabilities2.03803776
24MP0009780_abnormal_chondrocyte_physiolo1.98176280
25MP0002184_abnormal_innervation1.92852628
26MP0002822_catalepsy1.85750393
27MP0004811_abnormal_neuron_physiology1.84029456
28MP0005645_abnormal_hypothalamus_physiol1.78541353
29MP0003879_abnormal_hair_cell1.78198790
30MP0008569_lethality_at_weaning1.77648734
31MP0000778_abnormal_nervous_system1.75938926
32MP0003329_amyloid_beta_deposits1.74168829
33MP0004924_abnormal_behavior1.66369811
34MP0005386_behavior/neurological_phenoty1.66369811
35MP0002557_abnormal_social/conspecific_i1.66059943
36MP0005646_abnormal_pituitary_gland1.58526849
37MP0002909_abnormal_adrenal_gland1.58380557
38MP0000955_abnormal_spinal_cord1.58284742
39MP0008877_abnormal_DNA_methylation1.47489475
40MP0003123_paternal_imprinting1.45271899
41MP0002102_abnormal_ear_morphology1.44712142
42MP0002882_abnormal_neuron_morphology1.41185704
43MP0002066_abnormal_motor_capabilities/c1.38844417
44MP0001984_abnormal_olfaction1.37458783
45MP0003787_abnormal_imprinting1.32515919
46MP0001905_abnormal_dopamine_level1.31988088
47MP0004142_abnormal_muscle_tone1.26518081
48MP0003633_abnormal_nervous_system1.26274026
49MP0004885_abnormal_endolymph1.24722179
50MP0001529_abnormal_vocalization1.23542472
51MP0003122_maternal_imprinting1.18115177
52MP0003121_genomic_imprinting1.14015575
53MP0001188_hyperpigmentation1.11123349
54MP0002876_abnormal_thyroid_physiology1.08284045
55MP0003631_nervous_system_phenotype1.05100948
56MP0001502_abnormal_circadian_rhythm1.04432467
57MP0000751_myopathy1.03914624
58MP0000569_abnormal_digit_pigmentation1.02455800
59MP0002653_abnormal_ependyma_morphology0.99109782
60MP0003137_abnormal_impulse_conducting0.99093275
61MP0008872_abnormal_physiological_respon0.98388044
62MP0002152_abnormal_brain_morphology0.98265108
63MP0008874_decreased_physiological_sensi0.97984141
64MP0002229_neurodegeneration0.93685092
65MP0001963_abnormal_hearing_physiology0.92299434
66MP0002069_abnormal_eating/drinking_beha0.91670957
67MP0002234_abnormal_pharynx_morphology0.91423554
68MP0004084_abnormal_cardiac_muscle0.88940682
69MP0005167_abnormal_blood-brain_barrier0.87459537
70MP0001348_abnormal_lacrimal_gland0.87378513
71MP0005535_abnormal_body_temperature0.85174646
72MP0005253_abnormal_eye_physiology0.81879760
73MP0002638_abnormal_pupillary_reflex0.80415754
74MP0001986_abnormal_taste_sensitivity0.79382100
75MP0004484_altered_response_of0.78270089
76MP0004036_abnormal_muscle_relaxation0.78176530
77MP0010386_abnormal_urinary_bladder0.78157569
78MP0002752_abnormal_somatic_nervous0.78043584
79MP0003634_abnormal_glial_cell0.77962925
80MP0004085_abnormal_heartbeat0.76575077
81MP0003075_altered_response_to0.76231155
82MP0001177_atelectasis0.76040340
83MP0004742_abnormal_vestibular_system0.75723598
84MP0000604_amyloidosis0.73232087
85MP0004145_abnormal_muscle_electrophysio0.73171622
86MP0008775_abnormal_heart_ventricle0.72597388
87MP0002837_dystrophic_cardiac_calcinosis0.72550990
88MP0001664_abnormal_digestion0.69113512
89MP0002295_abnormal_pulmonary_circulatio0.66393476
90MP0003646_muscle_fatigue0.65226796
91MP0005187_abnormal_penis_morphology0.64980186
92MP0003632_abnormal_nervous_system0.64609035
93MP0002751_abnormal_autonomic_nervous0.64036060
94MP0005551_abnormal_eye_electrophysiolog0.63724396
95MP0006072_abnormal_retinal_apoptosis0.62885131
96MP0000631_abnormal_neuroendocrine_gland0.62819083
97MP0004510_myositis0.61984159
98MP0003045_fibrosis0.61950491
99MP0004233_abnormal_muscle_weight0.61647304
100MP0001485_abnormal_pinna_reflex0.61449149
101MP0004215_abnormal_myocardial_fiber0.61217520
102MP0003183_abnormal_peptide_metabolism0.60773849
103MP0002090_abnormal_vision0.60512040
104MP0000920_abnormal_myelination0.60490741
105MP0000230_abnormal_systemic_arterial0.60263114
106MP0003861_abnormal_nervous_system0.60137242
107MP0008961_abnormal_basal_metabolism0.58996143
108MP0001299_abnormal_eye_distance/0.58817041
109MP0005499_abnormal_olfactory_system0.58122106
110MP0005394_taste/olfaction_phenotype0.58122106
111MP0003011_delayed_dark_adaptation0.57890699
112MP0004043_abnormal_pH_regulation0.57693686
113MP0001943_abnormal_respiration0.57455243
114MP0003690_abnormal_glial_cell0.56992256
115MP0000427_abnormal_hair_cycle0.56982814
116MP0000538_abnormal_urinary_bladder0.55426094
117MP0010770_preweaning_lethality0.55317163
118MP0005623_abnormal_meninges_morphology0.55193287
119MP0000013_abnormal_adipose_tissue0.54612465
120MP0010234_abnormal_vibrissa_follicle0.53171453
121MP0003172_abnormal_lysosome_physiology0.52491154
122MP0003283_abnormal_digestive_organ0.51265854
123MP0000026_abnormal_inner_ear0.51189447

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.78289730
2Myokymia (HP:0002411)7.47410537
3Focal seizures (HP:0007359)5.80301591
4Visual hallucinations (HP:0002367)5.09044582
5Epileptic encephalopathy (HP:0200134)5.08010797
6Atonic seizures (HP:0010819)5.03674446
7Febrile seizures (HP:0002373)4.68509809
8Progressive cerebellar ataxia (HP:0002073)4.39056881
9Absence seizures (HP:0002121)4.24413146
10Action tremor (HP:0002345)4.17393395
11Generalized tonic-clonic seizures (HP:0002069)3.92910499
12Dialeptic seizures (HP:0011146)3.92060255
13Supranuclear gaze palsy (HP:0000605)3.65610147
14Impaired vibration sensation in the lower limbs (HP:0002166)3.51983840
15Hyperventilation (HP:0002883)3.40396300
16Ankle clonus (HP:0011448)3.39788190
17Broad-based gait (HP:0002136)3.22582300
18Papilledema (HP:0001085)3.17884692
19Depression (HP:0000716)3.16209914
20Pheochromocytoma (HP:0002666)3.15320339
21Abnormal eating behavior (HP:0100738)3.12732952
22Poor eye contact (HP:0000817)3.09017915
23Amblyopia (HP:0000646)3.07609736
24Urinary bladder sphincter dysfunction (HP:0002839)3.05628155
25Gaze-evoked nystagmus (HP:0000640)3.00305824
26Truncal ataxia (HP:0002078)2.96602512
27Mutism (HP:0002300)2.95587601
28Dysdiadochokinesis (HP:0002075)2.91825396
29Anxiety (HP:0000739)2.91123694
30Impaired social interactions (HP:0000735)2.90706319
31Abnormal social behavior (HP:0012433)2.90706319
32Urinary urgency (HP:0000012)2.88333725
33Insidious onset (HP:0003587)2.87612213
34Termporal pattern (HP:0011008)2.87612213
35Dysmetria (HP:0001310)2.87331199
36Neuroendocrine neoplasm (HP:0100634)2.85524167
37Postural instability (HP:0002172)2.82449631
38Syncope (HP:0001279)2.77637358
39Fetal akinesia sequence (HP:0001989)2.75810879
40Prolonged QT interval (HP:0001657)2.75149057
41Spastic gait (HP:0002064)2.73965314
42Limb dystonia (HP:0002451)2.67761178
43Abnormality of the lower motor neuron (HP:0002366)2.66214532
44Epileptiform EEG discharges (HP:0011182)2.56772808
45Progressive inability to walk (HP:0002505)2.54874773
46Bradykinesia (HP:0002067)2.54316535
47Drooling (HP:0002307)2.53289067
48Excessive salivation (HP:0003781)2.53289067
49Polyphagia (HP:0002591)2.50993579
50Bundle branch block (HP:0011710)2.49165014
51Torticollis (HP:0000473)2.46436222
52Genetic anticipation (HP:0003743)2.45736044
53EEG with generalized epileptiform discharges (HP:0011198)2.44517825
54Scanning speech (HP:0002168)2.42741372
55Abnormality of the corticospinal tract (HP:0002492)2.42214956
56Ventricular fibrillation (HP:0001663)2.40157308
57Focal dystonia (HP:0004373)2.37549891
58Hypsarrhythmia (HP:0002521)2.36276953
59Abnormality of binocular vision (HP:0011514)2.35093048
60Diplopia (HP:0000651)2.35093048
61Ketoacidosis (HP:0001993)2.31637757
62Impaired vibratory sensation (HP:0002495)2.31457007
63Stereotypic behavior (HP:0000733)2.28568632
64Failure to thrive in infancy (HP:0001531)2.25789929
65Lower limb muscle weakness (HP:0007340)2.23694510
66Absent speech (HP:0001344)2.20689435
67Impaired smooth pursuit (HP:0007772)2.20130489
68Decreased number of large peripheral myelinated nerve fibers (HP:0003387)2.19624947
69Ulnar claw (HP:0001178)2.18477815
70Cerebral inclusion bodies (HP:0100314)2.17558166
71Generalized myoclonic seizures (HP:0002123)2.17466020
72Akinesia (HP:0002304)2.15493362
73Abnormal EKG (HP:0003115)2.14263524
74Annular pancreas (HP:0001734)2.13268940
75Inability to walk (HP:0002540)2.12733703
76Atrial fibrillation (HP:0005110)2.12327506
77Hemiparesis (HP:0001269)2.11332596
78Spastic tetraparesis (HP:0001285)2.09931059
79Delusions (HP:0000746)2.09279999
80Hypoventilation (HP:0002791)2.09192622
81Abnormality of pain sensation (HP:0010832)2.09080175
82Impaired pain sensation (HP:0007328)2.09080175
83Postural tremor (HP:0002174)2.08816698
84Gait imbalance (HP:0002141)2.06614081
85Craniofacial dystonia (HP:0012179)2.06055588
86Primary atrial arrhythmia (HP:0001692)2.04980662
87Status epilepticus (HP:0002133)2.04731815
88Neurofibrillary tangles (HP:0002185)2.04549654
89Neoplasm of the peripheral nervous system (HP:0100007)2.04342120
90Intention tremor (HP:0002080)2.01360304
91Megalencephaly (HP:0001355)2.00539412
92Cerebral hypomyelination (HP:0006808)2.00458022
93Pancreatic fibrosis (HP:0100732)1.98704962
94Protruding tongue (HP:0010808)1.96915909
95Hemiplegia (HP:0002301)1.96367983
96Agitation (HP:0000713)1.96351944
97Poor suck (HP:0002033)1.96127110
98Blue irides (HP:0000635)1.95509987
99Chronic hepatic failure (HP:0100626)1.95126742
100Large for gestational age (HP:0001520)1.95021058
101Nephronophthisis (HP:0000090)1.93332283
102Abnormality of ocular smooth pursuit (HP:0000617)1.92948082
103Abnormal hair whorl (HP:0010721)1.92440867
104Increased circulating renin level (HP:0000848)1.89990399
105Supraventricular tachycardia (HP:0004755)1.89949243
106Aplasia/Hypoplasia of the brainstem (HP:0007362)1.89546457
107Hypoplasia of the brainstem (HP:0002365)1.89546457
108Hypercortisolism (HP:0001578)1.88987453
109Incomplete penetrance (HP:0003829)1.88260052
110Psychosis (HP:0000709)1.87571737
111Specific learning disability (HP:0001328)1.87558137
112Gait ataxia (HP:0002066)1.84974292
113Widely spaced teeth (HP:0000687)1.84077153
114Hypoglycemic seizures (HP:0002173)1.83807364
115Sleep apnea (HP:0010535)1.83214090
116Rigidity (HP:0002063)1.82682063
117Abnormality of salivation (HP:0100755)1.82511324
118Supraventricular arrhythmia (HP:0005115)1.82490309
119Hyperinsulinemic hypoglycemia (HP:0000825)1.82088731
120Narrow nasal bridge (HP:0000446)1.80068779
121Obstructive sleep apnea (HP:0002870)1.78021232
122Astrocytoma (HP:0009592)1.77977527
123Abnormality of the astrocytes (HP:0100707)1.77977527
124Rapidly progressive (HP:0003678)1.77472819
125Medial flaring of the eyebrow (HP:0010747)1.76610636
126Insulin-resistant diabetes mellitus (HP:0000831)1.73749988
127Aplasia/Hypoplasia of the tibia (HP:0005772)1.73566583
128CNS hypomyelination (HP:0003429)1.73370047
129Genital tract atresia (HP:0001827)1.72945321
130Hypothermia (HP:0002045)1.69753900
131Sudden death (HP:0001699)1.67694440
132Abnormality of midbrain morphology (HP:0002418)1.62587985
133Molar tooth sign on MRI (HP:0002419)1.62587985
134Congenital primary aphakia (HP:0007707)1.59483562

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.86238326
2FRK3.82342464
3MAP3K93.73583850
4EPHA43.49673695
5CASK3.07583960
6MINK13.02383462
7MAP3K42.97632012
8MARK12.95415625
9MAP3K122.83678807
10MAP2K72.65035509
11DAPK22.56544755
12KSR22.28305712
13NTRK12.04162708
14MAP2K42.01048555
15PAK61.99775125
16DAPK11.71393908
17NTRK21.71186732
18PRKD31.64473277
19CAMKK11.61091558
20KSR11.60964597
21ARAF1.60712523
22CDK191.58995773
23MAPK131.55657252
24TNIK1.54229383
25PLK21.51780086
26GRK51.51621600
27CDK51.47282917
28PRPF4B1.46111405
29MAP3K21.30101710
30RIPK41.28020139
31PRKCG1.26723376
32STK38L1.21774397
33LMTK21.20623573
34LATS21.17328559
35NEK61.15261257
36PHKG21.14687253
37PHKG11.14687253
38MAP4K21.08323849
39FES1.07462855
40STK381.07450871
41DMPK1.06922725
42WNK31.03818358
43SIK21.03208510
44CAMK2A1.02280621
45MAP3K131.00198077
46SGK4940.99504693
47SGK2230.99504693
48CAMK1G0.99454970
49PNCK0.99402127
50UHMK10.96714480
51CAMKK20.95896330
52SGK20.93999876
53OXSR10.90193392
54CDK140.90071084
55CAMK10.88463460
56CDK180.88376916
57RET0.87642671
58FGFR20.86620212
59PIK3CA0.85799852
60STK390.84678582
61CDK150.83535203
62MYLK0.83215348
63MKNK20.82238238
64CAMK1D0.80934526
65RAF10.80538874
66PTK2B0.77828632
67PRKCH0.77239609
68TAOK10.76548934
69BMPR1B0.75363067
70CSNK1G20.75204582
71PKN10.74744629
72CAMK2B0.73592971
73SIK30.73178598
74STK110.72489122
75SGK30.71513973
76MAP3K10.71382616
77CDK11A0.71364971
78PAK30.71350630
79FER0.70967729
80PDK10.70178911
81TYRO30.68134505
82NME10.67775791
83CSNK1G30.65840060
84CSNK1A1L0.63749879
85MAP2K10.62919558
86ALK0.61630940
87AKT30.61317827
88SCYL20.61017267
89PDPK10.59626370
90SGK10.59521787
91CSNK1G10.59416747
92PRKCE0.57881637
93PRKG10.57282107
94DYRK20.56687476
95CCNB10.56076429
96ROCK10.55365153
97DYRK1A0.54963237
98NEK10.52385953
99PRKAA10.51518717
100RPS6KA20.51480415
101ERBB30.49887983
102MAP3K50.48700655
103WNK40.48679772
104PRKACA0.47504083
105CAMK40.46649389
106PRKCZ0.46318273
107BMPR20.46062048
108PINK10.45730398
109MARK20.44810216
110CSNK1E0.44760373
111CSNK1D0.44448382
112DAPK30.43713723
113BRAF0.42490696
114RPS6KA30.42135212
115CAMK2G0.41703005
116CAMK2D0.41517427
117TNK20.40907214
118INSRR0.38588987
119CDK30.36651935
120ADRBK10.36376655
121BCR0.36127377
122MAPK100.34801019
123CDC42BPA0.34746227
124MAP3K70.33962346
125FYN0.33003636
126PDK40.32414078
127PDK30.32414078
128FGR0.32176270
129LIMK10.31527500
130ADRBK20.29831312

Predicted pathways (KEGG)

RankGene SetZ-score
1Synaptic vesicle cycle_Homo sapiens_hsa047213.74320808
2Nicotine addiction_Homo sapiens_hsa050333.62648882
3Olfactory transduction_Homo sapiens_hsa047402.79837420
4Long-term potentiation_Homo sapiens_hsa047202.64369712
5Circadian entrainment_Homo sapiens_hsa047132.58750196
6Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.56474672
7GABAergic synapse_Homo sapiens_hsa047272.54160745
8Glutamatergic synapse_Homo sapiens_hsa047242.44745676
9Amphetamine addiction_Homo sapiens_hsa050312.44582420
10Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.33780363
11Morphine addiction_Homo sapiens_hsa050322.30092893
12Dopaminergic synapse_Homo sapiens_hsa047282.11421132
13Salivary secretion_Homo sapiens_hsa049702.07226305
14Insulin secretion_Homo sapiens_hsa049112.02226320
15Cholinergic synapse_Homo sapiens_hsa047251.90963858
16Collecting duct acid secretion_Homo sapiens_hsa049661.90153584
17Gastric acid secretion_Homo sapiens_hsa049711.85519688
18Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.79951193
19Aldosterone synthesis and secretion_Homo sapiens_hsa049251.75995761
20Taste transduction_Homo sapiens_hsa047421.71706924
21Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.63942605
22Long-term depression_Homo sapiens_hsa047301.59968367
23Serotonergic synapse_Homo sapiens_hsa047261.59105702
24Calcium signaling pathway_Homo sapiens_hsa040201.56104185
25Oxytocin signaling pathway_Homo sapiens_hsa049211.55540255
26Renin secretion_Homo sapiens_hsa049241.55222653
27Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.49873366
28Cocaine addiction_Homo sapiens_hsa050301.48382359
29GnRH signaling pathway_Homo sapiens_hsa049121.44520746
30Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.42091680
31Butanoate metabolism_Homo sapiens_hsa006501.41505560
32Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.39754487
33Gap junction_Homo sapiens_hsa045401.35144760
34Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.35094077
35Vibrio cholerae infection_Homo sapiens_hsa051101.26088601
36Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.18496473
37Fatty acid elongation_Homo sapiens_hsa000621.17374219
38Glioma_Homo sapiens_hsa052141.17364180
39Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.17098095
40cAMP signaling pathway_Homo sapiens_hsa040241.15743788
41Axon guidance_Homo sapiens_hsa043601.12040467
42ErbB signaling pathway_Homo sapiens_hsa040121.10578554
43Type II diabetes mellitus_Homo sapiens_hsa049301.09890561
44Estrogen signaling pathway_Homo sapiens_hsa049151.09553694
45Phosphatidylinositol signaling system_Homo sapiens_hsa040701.08030231
46Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.06617750
47Melanogenesis_Homo sapiens_hsa049161.05859620
48Fatty acid metabolism_Homo sapiens_hsa012121.04132464
49Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.99683078
50Propanoate metabolism_Homo sapiens_hsa006400.95019910
51Cardiac muscle contraction_Homo sapiens_hsa042600.94977011
52Dorso-ventral axis formation_Homo sapiens_hsa043200.94144470
53Maturity onset diabetes of the young_Homo sapiens_hsa049500.93384451
54Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.92569977
55cGMP-PKG signaling pathway_Homo sapiens_hsa040220.90145186
56Oocyte meiosis_Homo sapiens_hsa041140.88090656
57Vascular smooth muscle contraction_Homo sapiens_hsa042700.87522248
58Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.87062507
59Fatty acid biosynthesis_Homo sapiens_hsa000610.80692170
60Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.79710059
61Phospholipase D signaling pathway_Homo sapiens_hsa040720.78095795
62Vitamin B6 metabolism_Homo sapiens_hsa007500.75489289
63Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.74260938
64Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.72563820
65Thyroid hormone synthesis_Homo sapiens_hsa049180.71537755
66Neurotrophin signaling pathway_Homo sapiens_hsa047220.70741295
67Phototransduction_Homo sapiens_hsa047440.70693123
68MAPK signaling pathway_Homo sapiens_hsa040100.70654734
69Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.69908154
70Choline metabolism in cancer_Homo sapiens_hsa052310.68847889
71Pancreatic secretion_Homo sapiens_hsa049720.67185713
72Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.65724024
73beta-Alanine metabolism_Homo sapiens_hsa004100.65200728
74Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.63711101
75VEGF signaling pathway_Homo sapiens_hsa043700.62342716
76Dilated cardiomyopathy_Homo sapiens_hsa054140.62014310
77Ras signaling pathway_Homo sapiens_hsa040140.61921215
78Glucagon signaling pathway_Homo sapiens_hsa049220.60876628
79Nitrogen metabolism_Homo sapiens_hsa009100.60850615
80Ovarian steroidogenesis_Homo sapiens_hsa049130.58819311
81Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.57918960
82Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.57344950
83Type I diabetes mellitus_Homo sapiens_hsa049400.57060958
84Tight junction_Homo sapiens_hsa045300.54322586
85Rap1 signaling pathway_Homo sapiens_hsa040150.53428437
86Sphingolipid signaling pathway_Homo sapiens_hsa040710.51527077
87Alzheimers disease_Homo sapiens_hsa050100.50794479
88ABC transporters_Homo sapiens_hsa020100.49348206
89Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.49050705
90Endocytosis_Homo sapiens_hsa041440.48831346
91Primary bile acid biosynthesis_Homo sapiens_hsa001200.48255961
92Longevity regulating pathway - mammal_Homo sapiens_hsa042110.48185664
93Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.47636731
94Regulation of autophagy_Homo sapiens_hsa041400.46254036
95Thyroid hormone signaling pathway_Homo sapiens_hsa049190.46179981
96SNARE interactions in vesicular transport_Homo sapiens_hsa041300.45990294
97Mineral absorption_Homo sapiens_hsa049780.45238247
98AMPK signaling pathway_Homo sapiens_hsa041520.45176432
99Endometrial cancer_Homo sapiens_hsa052130.44754377
100Inositol phosphate metabolism_Homo sapiens_hsa005620.44109910
101Insulin signaling pathway_Homo sapiens_hsa049100.43630992
102Prion diseases_Homo sapiens_hsa050200.42929921
103Alcoholism_Homo sapiens_hsa050340.41719089
104Carbohydrate digestion and absorption_Homo sapiens_hsa049730.41410694
105Oxidative phosphorylation_Homo sapiens_hsa001900.40767305
106mTOR signaling pathway_Homo sapiens_hsa041500.39917338
107Histidine metabolism_Homo sapiens_hsa003400.39499288
108Bile secretion_Homo sapiens_hsa049760.39458457
109Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.37466842
110Wnt signaling pathway_Homo sapiens_hsa043100.36962817
111Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.36500587
112Phagosome_Homo sapiens_hsa041450.32684638
113Non-small cell lung cancer_Homo sapiens_hsa052230.32660755
114Melanoma_Homo sapiens_hsa052180.32160956
115Renal cell carcinoma_Homo sapiens_hsa052110.31078611
116Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.30878834
117Rheumatoid arthritis_Homo sapiens_hsa053230.30777702
118Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.30610961
119Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.30600927
120African trypanosomiasis_Homo sapiens_hsa051430.29009370
121Arginine biosynthesis_Homo sapiens_hsa002200.28519820
122Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.27253406
123Circadian rhythm_Homo sapiens_hsa047100.27249481

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