CACNG3

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: The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family. This gene is a susceptibility locus for childhood absence epilepsy. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle docking involved in exocytosis (GO:0016081)7.06402424
2synaptic vesicle exocytosis (GO:0016079)6.09738933
3glutamate secretion (GO:0014047)5.98273274
4regulation of short-term neuronal synaptic plasticity (GO:0048172)5.95664175
5vocalization behavior (GO:0071625)5.89233398
6neurotransmitter-gated ion channel clustering (GO:0072578)5.85441930
7positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.81058585
8regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)5.73371304
9regulation of synaptic vesicle exocytosis (GO:2000300)5.52825800
10* regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.51941553
11cellular potassium ion homeostasis (GO:0030007)5.42079201
12protein localization to synapse (GO:0035418)5.33714545
13neuron cell-cell adhesion (GO:0007158)5.24745548
14presynaptic membrane assembly (GO:0097105)5.14628695
15* regulation of glutamate receptor signaling pathway (GO:1900449)5.14613032
16synaptic vesicle maturation (GO:0016188)5.05697326
17presynaptic membrane organization (GO:0097090)4.96623701
18sodium ion export (GO:0071436)4.94207159
19regulation of synaptic vesicle transport (GO:1902803)4.87532336
20ionotropic glutamate receptor signaling pathway (GO:0035235)4.73434467
21L-amino acid import (GO:0043092)4.70486094
22locomotory exploration behavior (GO:0035641)4.66191794
23postsynaptic membrane organization (GO:0001941)4.64629430
24negative regulation of synaptic transmission, GABAergic (GO:0032229)4.62934057
25neurotransmitter secretion (GO:0007269)4.62006999
26synaptic transmission, glutamatergic (GO:0035249)4.59855050
27neuronal action potential propagation (GO:0019227)4.56592547
28neuron-neuron synaptic transmission (GO:0007270)4.55952113
29positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.44027690
30amino acid import (GO:0043090)4.32155069
31glutamate receptor signaling pathway (GO:0007215)4.31109327
32long-term synaptic potentiation (GO:0060291)4.25691429
33positive regulation of neurotransmitter secretion (GO:0001956)4.24098086
34regulation of excitatory postsynaptic membrane potential (GO:0060079)4.21495307
35positive regulation of neurotransmitter transport (GO:0051590)4.19546727
36positive regulation of dendritic spine development (GO:0060999)4.13835361
37regulation of neuronal synaptic plasticity (GO:0048168)4.07273901
38positive regulation of synapse maturation (GO:0090129)4.06055429
39membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.05590745
40positive regulation of dendritic spine morphogenesis (GO:0061003)4.04963298
41gamma-aminobutyric acid signaling pathway (GO:0007214)4.03207242
42regulation of long-term neuronal synaptic plasticity (GO:0048169)4.02807466
43response to histamine (GO:0034776)4.02359380
44regulation of postsynaptic membrane potential (GO:0060078)4.01445212
45positive regulation of membrane potential (GO:0045838)3.98321953
46dendritic spine morphogenesis (GO:0060997)3.96796263
47cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.89065576
48regulation of synaptic plasticity (GO:0048167)3.87636699
49neuronal ion channel clustering (GO:0045161)3.87288347
50startle response (GO:0001964)3.87192599
51regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.85236293
52exploration behavior (GO:0035640)3.83606363
53layer formation in cerebral cortex (GO:0021819)3.81485095
54regulation of synaptic transmission, glutamatergic (GO:0051966)3.80719588
55regulation of neurotransmitter secretion (GO:0046928)3.78334177
56transferrin transport (GO:0033572)3.74680083
57cerebellar granule cell differentiation (GO:0021707)3.70241081
58serotonin metabolic process (GO:0042428)3.69487887
59potassium ion homeostasis (GO:0055075)3.69407602
60neuromuscular process controlling balance (GO:0050885)3.67854818
61positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.66576374
62ATP hydrolysis coupled proton transport (GO:0015991)3.63043364
63energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)3.63043364
64neurotransmitter transport (GO:0006836)3.62154173
65regulation of glutamate secretion (GO:0014048)3.57963352
66potassium ion import (GO:0010107)3.57024055
67axon ensheathment in central nervous system (GO:0032291)3.56852034
68central nervous system myelination (GO:0022010)3.56852034
69regulation of synapse structural plasticity (GO:0051823)3.55899545
70regulation of neurotransmitter transport (GO:0051588)3.54411198
71dendritic spine organization (GO:0097061)3.51233773
72mechanosensory behavior (GO:0007638)3.49635847
73behavioral response to cocaine (GO:0048148)3.47476824
74trivalent inorganic cation transport (GO:0072512)3.47382295
75ferric iron transport (GO:0015682)3.47382295
76positive regulation of synaptic transmission (GO:0050806)3.46872123
77long-term memory (GO:0007616)3.46303075
78membrane depolarization during action potential (GO:0086010)3.44132238
79auditory behavior (GO:0031223)3.42006358
80gamma-aminobutyric acid transport (GO:0015812)3.41137494
81acidic amino acid transport (GO:0015800)3.41059318
82regulation of neurotransmitter levels (GO:0001505)3.40935263
83negative regulation of dendrite morphogenesis (GO:0050774)3.40481940
84G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.38041851
85cell communication by electrical coupling (GO:0010644)3.37918715
86regulation of synapse maturation (GO:0090128)3.37442876
87synaptic vesicle transport (GO:0048489)3.36791635
88establishment of synaptic vesicle localization (GO:0097480)3.36791635
89regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.36518654
90regulation of ARF protein signal transduction (GO:0032012)3.35597311
91neuron recognition (GO:0008038)3.32995560
92neuromuscular synaptic transmission (GO:0007274)3.32523100
93detection of calcium ion (GO:0005513)3.32035906
94proline transport (GO:0015824)3.30620241
95negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.30545787
96positive regulation of synapse assembly (GO:0051965)3.28751556
97positive regulation of synaptic transmission, GABAergic (GO:0032230)3.27804324
98membrane depolarization (GO:0051899)3.27030627
99cerebellar Purkinje cell differentiation (GO:0021702)3.27012179
100vesicle docking involved in exocytosis (GO:0006904)3.26741779
101regulation of dendritic spine morphogenesis (GO:0061001)3.25874491
102negative regulation of amino acid transport (GO:0051956)3.25741001
103regulation of synaptic transmission (GO:0050804)3.23363938
104G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.22406278
105regulation of vesicle fusion (GO:0031338)3.22336739
106synaptic vesicle endocytosis (GO:0048488)3.21369805
107cellular sodium ion homeostasis (GO:0006883)3.19371935
108learning (GO:0007612)3.17404427
109transmission of nerve impulse (GO:0019226)3.16731609
110primary amino compound metabolic process (GO:1901160)3.15476588
111neurotransmitter uptake (GO:0001504)3.14828790
112regulation of voltage-gated calcium channel activity (GO:1901385)3.13715401
113acid secretion (GO:0046717)3.13117747
114regulation of exocytosis (GO:0017157)3.12594831
115* synaptic transmission (GO:0007268)3.12323357
116vesicle docking (GO:0048278)3.11965250
117behavioral fear response (GO:0001662)3.11905913
118behavioral defense response (GO:0002209)3.11905913
119positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.11664006
120dicarboxylic acid transport (GO:0006835)3.10522397
121activation of protein kinase A activity (GO:0034199)3.10462771
122membrane hyperpolarization (GO:0060081)3.10356178
123regulation of synaptic transmission, GABAergic (GO:0032228)3.07592839
124positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.06679310
125negative regulation of dendrite development (GO:2000171)3.05418299
126response to auditory stimulus (GO:0010996)3.05005569
127phosphorelay signal transduction system (GO:0000160)3.03736019
128regulation of female receptivity (GO:0045924)3.02401184
129fear response (GO:0042596)3.02302890
130regulation of dendritic spine development (GO:0060998)3.02088068
131signal release (GO:0023061)3.01784875
132long term synaptic depression (GO:0060292)3.01156798
133neuromuscular process controlling posture (GO:0050884)3.01055751
134female mating behavior (GO:0060180)2.98322901
135axonal fasciculation (GO:0007413)2.95415902
136regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.94515568

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.70790673
2GBX2_23144817_ChIP-Seq_PC3_Human4.91349835
3* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.23534718
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.10132281
5JARID2_20064375_ChIP-Seq_MESCs_Mouse2.94363611
6* REST_21632747_ChIP-Seq_MESCs_Mouse2.72495311
7SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.69592418
8* RARB_27405468_Chip-Seq_BRAIN_Mouse2.58005114
9TAF15_26573619_Chip-Seq_HEK293_Human2.56960281
10EZH2_18974828_ChIP-Seq_MESCs_Mouse2.56902737
11RNF2_18974828_ChIP-Seq_MESCs_Mouse2.56902737
12SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.54262597
13GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.53831521
14EZH2_27304074_Chip-Seq_ESCs_Mouse2.51182360
15JARID2_20075857_ChIP-Seq_MESCs_Mouse2.50774668
16* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.45737520
17NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.39796795
18* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.37127604
19MTF2_20144788_ChIP-Seq_MESCs_Mouse2.35075943
20THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.33923272
21EED_16625203_ChIP-ChIP_MESCs_Mouse2.33804712
22REST_18959480_ChIP-ChIP_MESCs_Mouse2.31331373
23CTBP2_25329375_ChIP-Seq_LNCAP_Human2.30553952
24DROSHA_22980978_ChIP-Seq_HELA_Human2.16417875
25SUZ12_27294783_Chip-Seq_ESCs_Mouse2.09250559
26RNF2_27304074_Chip-Seq_ESCs_Mouse2.05146955
27TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.04223689
28ZFP57_27257070_Chip-Seq_ESCs_Mouse2.02121305
29* CTBP1_25329375_ChIP-Seq_LNCAP_Human1.99939307
30EZH2_27294783_Chip-Seq_ESCs_Mouse1.97854419
31CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.95311631
32MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.94268620
33SMAD4_21799915_ChIP-Seq_A2780_Human1.88361089
34GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.87973424
35IKZF1_21737484_ChIP-ChIP_HCT116_Human1.87244444
36SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.85756177
37ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.82979565
38AR_21572438_ChIP-Seq_LNCaP_Human1.80257431
39* P300_19829295_ChIP-Seq_ESCs_Human1.79046338
40ZFP281_18757296_ChIP-ChIP_E14_Mouse1.56243184
41POU3F2_20337985_ChIP-ChIP_501MEL_Human1.55520955
42SMAD_19615063_ChIP-ChIP_OVARY_Human1.54906573
43BMI1_23680149_ChIP-Seq_NPCS_Mouse1.51950504
44SMAD3_21741376_ChIP-Seq_EPCs_Human1.51483075
45PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.48520469
46SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.48352043
47FUS_26573619_Chip-Seq_HEK293_Human1.45941280
48PIAS1_25552417_ChIP-Seq_VCAP_Human1.40839057
49CBX2_27304074_Chip-Seq_ESCs_Mouse1.40124638
50* SOX2_21211035_ChIP-Seq_LN229_Gbm1.40095841
51AR_25329375_ChIP-Seq_VCAP_Human1.39888672
52KDM2B_26808549_Chip-Seq_K562_Human1.38238914
53PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.33624323
54RNF2_27304074_Chip-Seq_NSC_Mouse1.31829521
55* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.30363756
56* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.29977613
57ERG_21242973_ChIP-ChIP_JURKAT_Human1.29032196
58STAT3_23295773_ChIP-Seq_U87_Human1.27193848
59RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.26639110
60NR3C1_23031785_ChIP-Seq_PC12_Mouse1.25779941
61* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.25176831
62TET1_21490601_ChIP-Seq_MESCs_Mouse1.25119467
63VDR_22108803_ChIP-Seq_LS180_Human1.24944671
64* TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.24459732
65P53_22127205_ChIP-Seq_FIBROBLAST_Human1.23605943
66PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.22910972
67TCF4_23295773_ChIP-Seq_U87_Human1.21948656
68CTCF_27219007_Chip-Seq_Bcells_Human1.19751698
69* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.19630012
70EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.16835305
71ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.16404363
72ER_23166858_ChIP-Seq_MCF-7_Human1.15282848
73ARNT_22903824_ChIP-Seq_MCF-7_Human1.13869360
74CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.12404034
75* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.11944547
76PRDM14_20953172_ChIP-Seq_ESCs_Human1.11536188
77ZFP281_27345836_Chip-Seq_ESCs_Mouse1.11401176
78UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.11308151
79* AR_19668381_ChIP-Seq_PC3_Human1.11163556
80AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.09200468
81ZNF274_21170338_ChIP-Seq_K562_Hela1.09083155
82DNAJC2_21179169_ChIP-ChIP_NT2_Human1.08061833
83CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.08040788
84SRY_22984422_ChIP-ChIP_TESTIS_Rat1.06775049
85RING1B_27294783_Chip-Seq_ESCs_Mouse1.06619881
86RUNX2_22187159_ChIP-Seq_PCA_Human1.06261175
87OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.06092044
88JUN_21703547_ChIP-Seq_K562_Human1.05927544
89AHR_22903824_ChIP-Seq_MCF-7_Human1.05733983
90WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.04859797
91YAP1_20516196_ChIP-Seq_MESCs_Mouse1.03947993
92NANOG_18555785_Chip-Seq_ESCs_Mouse1.03606416
93SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.02747093
94* MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.02606324
95VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.02536614
96TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.02053153
97SOX9_26525672_Chip-Seq_HEART_Mouse1.00506389
98RING1B_27294783_Chip-Seq_NPCs_Mouse0.99205478
99MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.98804635
100ZNF217_24962896_ChIP-Seq_MCF-7_Human0.97308841
101* SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.95606259
102RXR_22108803_ChIP-Seq_LS180_Human0.95175519
103TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.95165624
104POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.95165624
105TP53_18474530_ChIP-ChIP_U2OS_Human0.91867290
106TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.91774324
107SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.91390697
108* RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.91269363
109E2F1_18555785_Chip-Seq_ESCs_Mouse0.91224932
110GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.90565090
111OCT4_19829295_ChIP-Seq_ESCs_Human0.90448527
112SMAD3_21741376_ChIP-Seq_ESCs_Human0.90263502
113GATA1_26923725_Chip-Seq_HPCs_Mouse0.89549165
114* WT1_25993318_ChIP-Seq_PODOCYTE_Human0.89319426
115P53_22387025_ChIP-Seq_ESCs_Mouse0.88716727
116DPY_21335234_ChIP-Seq_ESCs_Mouse0.88231340
117FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.87784251
118EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.87320478
119IGF1R_20145208_ChIP-Seq_DFB_Human0.86974475
120* SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.83873410
121PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.83590761
122TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.80746333
123TP53_20018659_ChIP-ChIP_R1E_Mouse0.79748439
124* KLF4_19829295_ChIP-Seq_ESCs_Human0.79748330
125CTNNB1_20460455_ChIP-Seq_HCT116_Human0.77557369
126ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.75832303
127LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.75195024
128SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.71891962
129EGR1_19032775_ChIP-ChIP_M12_Human0.70783235
130SMC4_20622854_ChIP-Seq_HELA_Human0.70358434
131LXR_22292898_ChIP-Seq_THP-1_Human0.70309116

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.11149063
2MP0003880_abnormal_central_pattern5.64546497
3MP0003635_abnormal_synaptic_transmissio4.16963091
4MP0009745_abnormal_behavioral_response3.66837702
5MP0004270_analgesia3.53756486
6MP0009046_muscle_twitch3.45237157
7MP0002063_abnormal_learning/memory/cond3.43898785
8MP0002064_seizures3.42593884
9MP0001968_abnormal_touch/_nociception3.34406400
10MP0002822_catalepsy3.24899265
11MP0002572_abnormal_emotion/affect_behav3.06614372
12MP0002736_abnormal_nociception_after2.99364939
13MP0002272_abnormal_nervous_system2.62540059
14MP0002734_abnormal_mechanical_nocicepti2.52175467
15MP0001486_abnormal_startle_reflex2.49688210
16MP0001501_abnormal_sleep_pattern2.47317379
17MP0003787_abnormal_imprinting2.38226524
18MP0009780_abnormal_chondrocyte_physiolo2.24796679
19MP0005646_abnormal_pituitary_gland2.21885129
20MP0005423_abnormal_somatic_nervous2.17825205
21MP0001440_abnormal_grooming_behavior2.17716513
22MP0003879_abnormal_hair_cell2.17409047
23MP0002735_abnormal_chemical_nociception2.16451351
24MP0002067_abnormal_sensory_capabilities2.03662261
25MP0001970_abnormal_pain_threshold1.82357727
26MP0003122_maternal_imprinting1.82056109
27MP0001529_abnormal_vocalization1.81604002
28MP0005386_behavior/neurological_phenoty1.79291772
29MP0004924_abnormal_behavior1.79291772
30MP0002733_abnormal_thermal_nociception1.79112286
31MP0002557_abnormal_social/conspecific_i1.69220796
32MP0001984_abnormal_olfaction1.62675364
33MP0008569_lethality_at_weaning1.61997668
34MP0004811_abnormal_neuron_physiology1.61846013
35MP0006276_abnormal_autonomic_nervous1.61058149
36MP0001188_hyperpigmentation1.59421107
37MP0002184_abnormal_innervation1.52431546
38MP0000778_abnormal_nervous_system1.50351683
39MP0003690_abnormal_glial_cell1.49253196
40MP0001905_abnormal_dopamine_level1.48541484
41MP0000920_abnormal_myelination1.46329479
42MP0002876_abnormal_thyroid_physiology1.44795935
43MP0002909_abnormal_adrenal_gland1.36998643
44MP0002066_abnormal_motor_capabilities/c1.35365371
45MP0003633_abnormal_nervous_system1.29563573
46MP0005645_abnormal_hypothalamus_physiol1.28413470
47MP0004858_abnormal_nervous_system1.26760537
48MP0004142_abnormal_muscle_tone1.26359211
49MP0003329_amyloid_beta_deposits1.26194061
50MP0002882_abnormal_neuron_morphology1.25289389
51MP0001502_abnormal_circadian_rhythm1.22841405
52MP0000955_abnormal_spinal_cord1.20683798
53MP0002837_dystrophic_cardiac_calcinosis1.19356883
54MP0008872_abnormal_physiological_respon1.12563621
55MP0003631_nervous_system_phenotype1.08456828
56MP0000751_myopathy1.05155470
57MP0008877_abnormal_DNA_methylation1.01107742
58MP0002653_abnormal_ependyma_morphology0.97734795
59MP0008004_abnormal_stomach_pH0.97597021
60MP0005171_absent_coat_pigmentation0.96822651
61MP0002069_abnormal_eating/drinking_beha0.96782956
62MP0000013_abnormal_adipose_tissue0.96244068
63MP0003634_abnormal_glial_cell0.95456770
64MP0008874_decreased_physiological_sensi0.95082946
65MP0010386_abnormal_urinary_bladder0.93901993
66MP0001986_abnormal_taste_sensitivity0.93406952
67MP0002152_abnormal_brain_morphology0.92774848
68MP0004147_increased_porphyrin_level0.92215910
69MP0005551_abnormal_eye_electrophysiolog0.91813317
70MP0001963_abnormal_hearing_physiology0.89190397
71MP0001664_abnormal_digestion0.88192034
72MP0005535_abnormal_body_temperature0.87332327
73MP0004085_abnormal_heartbeat0.85924362
74MP0003183_abnormal_peptide_metabolism0.84342658
75MP0002229_neurodegeneration0.83357726
76MP0001346_abnormal_lacrimal_gland0.82009490
77MP0004885_abnormal_endolymph0.81837494
78MP0004484_altered_response_of0.80004777
79MP0002638_abnormal_pupillary_reflex0.76347503
80MP0005623_abnormal_meninges_morphology0.73957725
81MP0003646_muscle_fatigue0.72484074
82MP0000631_abnormal_neuroendocrine_gland0.71624564
83MP0004742_abnormal_vestibular_system0.70303311
84MP0004043_abnormal_pH_regulation0.69016919
85MP0001177_atelectasis0.69014086
86MP0005394_taste/olfaction_phenotype0.68675609
87MP0005499_abnormal_olfactory_system0.68675609
88MP0004215_abnormal_myocardial_fiber0.67266196
89MP0003121_genomic_imprinting0.67265321
90MP0001348_abnormal_lacrimal_gland0.65785063
91MP0003075_altered_response_to0.63169611
92MP0004233_abnormal_muscle_weight0.62874634
93MP0003632_abnormal_nervous_system0.62744358
94MP0004145_abnormal_muscle_electrophysio0.62648624
95MP0002752_abnormal_somatic_nervous0.59323686
96MP0004510_myositis0.58719121
97MP0001943_abnormal_respiration0.57179722
98MP0005084_abnormal_gallbladder_morpholo0.56046208
99MP0005167_abnormal_blood-brain_barrier0.55879450
100MP0001485_abnormal_pinna_reflex0.54793517
101MP0003137_abnormal_impulse_conducting0.54172065
102MP0003938_abnormal_ear_development0.52944504
103MP0003123_paternal_imprinting0.52395513
104MP0010770_preweaning_lethality0.52218969
105MP0002082_postnatal_lethality0.52218969
106MP0010769_abnormal_survival0.51115354
107MP0000569_abnormal_digit_pigmentation0.50999433
108MP0000026_abnormal_inner_ear0.49060414
109MP0002090_abnormal_vision0.48994048
110MP0010768_mortality/aging0.48535565
111MP0004130_abnormal_muscle_cell0.47954138
112MP0005166_decreased_susceptibility_to0.47834039
113MP0003861_abnormal_nervous_system0.47574533
114MP0003956_abnormal_body_size0.47371083
115MP0003172_abnormal_lysosome_physiology0.47279888
116MP0000604_amyloidosis0.47062075
117MP0000639_abnormal_adrenal_gland0.45217142
118* MP0002873_normal_phenotype0.43465427

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)8.92688199
2Epileptic encephalopathy (HP:0200134)6.53555871
3Myokymia (HP:0002411)6.10300657
4Focal seizures (HP:0007359)5.86707680
5Atonic seizures (HP:0010819)5.82282489
6Hyperventilation (HP:0002883)5.51939325
7Febrile seizures (HP:0002373)5.05996070
8Absence seizures (HP:0002121)4.50772485
9Visual hallucinations (HP:0002367)4.28096324
10Dialeptic seizures (HP:0011146)4.28056723
11Broad-based gait (HP:0002136)4.22950046
12Progressive cerebellar ataxia (HP:0002073)3.95980258
13Generalized tonic-clonic seizures (HP:0002069)3.95172382
14Neurofibrillary tangles (HP:0002185)3.81315573
15Papilledema (HP:0001085)3.76055786
16Gaze-evoked nystagmus (HP:0000640)3.64354165
17Mutism (HP:0002300)3.62095925
18Abnormal eating behavior (HP:0100738)3.56400685
19Impaired vibration sensation in the lower limbs (HP:0002166)3.55662543
20Cerebral hypomyelination (HP:0006808)3.54586914
21Amblyopia (HP:0000646)3.40989563
22Poor eye contact (HP:0000817)3.39197786
23Abnormal hair whorl (HP:0010721)3.34182414
24Cerebral inclusion bodies (HP:0100314)3.17241111
25Intention tremor (HP:0002080)3.11237794
26Dysdiadochokinesis (HP:0002075)3.07475750
27Dysmetric saccades (HP:0000641)3.05299256
28Polyphagia (HP:0002591)3.03996034
29Epileptiform EEG discharges (HP:0011182)3.01274344
30Neuronal loss in central nervous system (HP:0002529)2.99894778
31Tetraplegia (HP:0002445)2.98517003
32Abnormal social behavior (HP:0012433)2.95995613
33Impaired social interactions (HP:0000735)2.95995613
34Hemiplegia (HP:0002301)2.93564546
35Truncal ataxia (HP:0002078)2.85785658
36Protruding tongue (HP:0010808)2.84104139
37Akinesia (HP:0002304)2.83886615
38Clonus (HP:0002169)2.82452991
39Obstructive sleep apnea (HP:0002870)2.81036771
40Excessive salivation (HP:0003781)2.80027111
41Drooling (HP:0002307)2.80027111
42Depression (HP:0000716)2.77116076
43Pheochromocytoma (HP:0002666)2.76071530
44Anxiety (HP:0000739)2.73274304
45Inability to walk (HP:0002540)2.72283654
46Peripheral hypomyelination (HP:0007182)2.72274715
47Dysmetria (HP:0001310)2.69083421
48Urinary bladder sphincter dysfunction (HP:0002839)2.67679704
49Apathy (HP:0000741)2.63697361
50Gait imbalance (HP:0002141)2.61522791
51Impaired vibratory sensation (HP:0002495)2.60868559
52Failure to thrive in infancy (HP:0001531)2.59043583
53Action tremor (HP:0002345)2.58445602
54Neuroendocrine neoplasm (HP:0100634)2.55656050
55Abnormality of the lower motor neuron (HP:0002366)2.54551239
56Resting tremor (HP:0002322)2.53200293
57EEG with generalized epileptiform discharges (HP:0011198)2.52459732
58Poor suck (HP:0002033)2.51428266
59Impaired smooth pursuit (HP:0007772)2.50333189
60Oligomenorrhea (HP:0000876)2.43751636
61Diminished motivation (HP:0000745)2.42876846
62Abnormality of the labia minora (HP:0012880)2.42370633
63Postural instability (HP:0002172)2.41689919
64Stereotypic behavior (HP:0000733)2.40733752
65Ankle clonus (HP:0011448)2.39868547
66Congenital primary aphakia (HP:0007707)2.39425522
67Fetal akinesia sequence (HP:0001989)2.39013155
68Scanning speech (HP:0002168)2.37913668
69Torticollis (HP:0000473)2.36727333
70Focal dystonia (HP:0004373)2.35822076
71Hypsarrhythmia (HP:0002521)2.35038146
72Absent speech (HP:0001344)2.34908094
73Bradykinesia (HP:0002067)2.33671097
74Medial flaring of the eyebrow (HP:0010747)2.32443818
75Nephrogenic diabetes insipidus (HP:0009806)2.32326236
76Hyperthyroidism (HP:0000836)2.31103675
77Spastic tetraparesis (HP:0001285)2.30028505
78Progressive inability to walk (HP:0002505)2.28780932
79Sensory axonal neuropathy (HP:0003390)2.28195575
80Blue irides (HP:0000635)2.26014216
81Genetic anticipation (HP:0003743)2.25635932
82CNS hypomyelination (HP:0003429)2.24742952
83Specific learning disability (HP:0001328)2.22872610
84Rigidity (HP:0002063)2.22686453
85Status epilepticus (HP:0002133)2.21804062
86Amyotrophic lateral sclerosis (HP:0007354)2.20874459
87Split foot (HP:0001839)2.20621572
88Termporal pattern (HP:0011008)2.19471148
89Insidious onset (HP:0003587)2.19471148
90Incomplete penetrance (HP:0003829)2.18309244
91Urinary urgency (HP:0000012)2.17668325
92Insomnia (HP:0100785)2.17438287
93Limb dystonia (HP:0002451)2.15091844
94Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.14607365
95Degeneration of the lateral corticospinal tracts (HP:0002314)2.14607365
96Diplopia (HP:0000651)2.13278695
97Abnormality of binocular vision (HP:0011514)2.13278695
98Choreoathetosis (HP:0001266)2.11592889
99Morphological abnormality of the pyramidal tract (HP:0002062)2.10944171
100Narrow nasal bridge (HP:0000446)2.10417818
101Abnormality of ocular smooth pursuit (HP:0000617)2.09819915
102Craniofacial dystonia (HP:0012179)2.06760422
103Hypoventilation (HP:0002791)2.05600094
104Sleep apnea (HP:0010535)2.04202035
105Generalized myoclonic seizures (HP:0002123)2.03950931
106Gait ataxia (HP:0002066)2.03324952
107Ventricular fibrillation (HP:0001663)2.00401396
108Spastic gait (HP:0002064)1.99258634
109Abnormal mitochondria in muscle tissue (HP:0008316)1.99174799
110Hemiparesis (HP:0001269)1.94259262
111Acute necrotizing encephalopathy (HP:0006965)1.93887582
112Cholecystitis (HP:0001082)1.93782955
113Abnormal gallbladder physiology (HP:0012438)1.93782955
114Rapidly progressive (HP:0003678)1.93074616
115Esotropia (HP:0000565)1.90925194
116Spastic tetraplegia (HP:0002510)1.89885457
117Memory impairment (HP:0002354)1.88921918
118Abnormality of salivation (HP:0100755)1.85337107
119Abnormality of the corticospinal tract (HP:0002492)1.83741903
120Supranuclear gaze palsy (HP:0000605)1.83507808
121Delusions (HP:0000746)1.82785369
122Abnormality of saccadic eye movements (HP:0000570)1.81748854
123Annular pancreas (HP:0001734)1.81029749
124Generalized hypotonia (HP:0001290)1.80608604
125Poor coordination (HP:0002370)1.80515308
126Impaired pain sensation (HP:0007328)1.79472299
127Abnormality of pain sensation (HP:0010832)1.79472299
128Thickened helices (HP:0000391)1.78126686
129Lower limb muscle weakness (HP:0007340)1.77963955
130Increased circulating renin level (HP:0000848)1.77411981
131Dementia (HP:0000726)1.76155429
132Spinal canal stenosis (HP:0003416)1.73446479
133Megalencephaly (HP:0001355)1.73242502
134Bundle branch block (HP:0011710)1.70733788
135Hand muscle atrophy (HP:0009130)1.69655641
136Lower limb asymmetry (HP:0100559)1.67987571

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CASK5.69208442
2EPHA44.30139735
3NTRK34.04584694
4DAPK23.45279637
5MAP3K123.13151700
6MAP3K43.10099589
7CDK193.09216777
8MAP2K73.05068877
9DAPK12.73758753
10MAP3K92.67205497
11CCNB12.47022330
12PLK22.25976238
13PRPF4B2.03795551
14MINK11.98374686
15AKT31.92374015
16MAP2K41.90996094
17OXSR11.65578128
18MARK11.59159497
19RIPK41.57670571
20SIK31.54376736
21PAK61.53720974
22NTRK21.47634024
23KSR11.40169505
24TSSK61.34973864
25CDK51.33672895
26GRK51.32935985
27LATS21.27952338
28KSR21.24762636
29CAMKK11.24100329
30PRKCG1.19590960
31MAPK131.16006511
32ARAF1.12950695
33PHKG21.09933877
34PHKG11.09933877
35SGK21.09553741
36CAMK2A1.08882673
37PTK2B1.08794619
38CAMKK21.08706783
39MAP3K111.07990061
40SGK2231.04504228
41SGK4941.04504228
42TNIK1.03244164
43CAMK2B0.98049033
44ALK0.94986373
45FES0.91919442
46PRKD30.91875679
47CDK180.91168850
48DAPK30.87970294
49BMPR20.84628290
50CDK150.82851123
51SIK20.82400387
52NTRK10.81311632
53PDK30.80971364
54PDK40.80971364
55NEK10.80456748
56LIMK10.78600765
57NME10.77081049
58BRAF0.76834309
59CDK140.76512166
60CAMK10.75534023
61SGK30.73176628
62TAOK10.72525947
63PNCK0.72414709
64CDK11A0.70895293
65PKN10.68930232
66MAP3K130.68880971
67TESK10.67687471
68UHMK10.66222436
69SGK10.65739893
70MAPK100.65364528
71STK380.64091699
72MAP3K20.63361059
73RIPK10.59583555
74STK110.59493349
75RAF10.59162348
76PRKCE0.58157913
77MAPK70.56692491
78BRSK10.56263542
79BCR0.55049233
80PRKCH0.54326563
81PDK10.51448521
82CAMK40.51282490
83PDPK10.47360538
84MAPK120.45564409
85TYRO30.43368966
86FGR0.42949581
87PDK20.41071810
88MYLK0.40857108
89DYRK1A0.40272882
90CAMK2D0.39414712
91ADRBK10.39176258
92TNK20.39136072
93WNK30.38831041
94CAMK2G0.38109184
95MAP2K10.37851839
96MAP3K10.37782101
97CSNK1G20.36611969
98RPS6KA30.36378661
99PINK10.36128037
100CDK30.35492735
101MARK20.34075585
102FER0.33352099
103PAK30.32281684
104RET0.31059010
105PRKACA0.29121601
106CSNK1A1L0.28643433
107FYN0.27653306
108PRKCA0.27315563
109PRKCZ0.27171678
110PRKG20.27147155
111MAPK40.27124534
112GRK70.26928692
113ERBB20.26844208
114CSNK1G30.26760705
115MAPK80.26706812
116PRKG10.26149461
117CSNK1D0.26143826
118DYRK20.26066157
119NEK60.25912918
120PRKCB0.25768510
121ROCK20.25025863
122MAP2K60.24137249
123CSNK1E0.23290816

Predicted pathways (KEGG)

RankGene SetZ-score
1Synaptic vesicle cycle_Homo sapiens_hsa047214.31238952
2Nicotine addiction_Homo sapiens_hsa050334.25012007
3Collecting duct acid secretion_Homo sapiens_hsa049663.22369109
4Olfactory transduction_Homo sapiens_hsa047402.89603170
5Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.85966313
6Circadian entrainment_Homo sapiens_hsa047132.76197555
7Amphetamine addiction_Homo sapiens_hsa050312.75843901
8Long-term potentiation_Homo sapiens_hsa047202.69823276
9Morphine addiction_Homo sapiens_hsa050322.61271090
10GABAergic synapse_Homo sapiens_hsa047272.60154811
11Glutamatergic synapse_Homo sapiens_hsa047242.43681763
12Dopaminergic synapse_Homo sapiens_hsa047282.16949198
13Salivary secretion_Homo sapiens_hsa049702.12500010
14Vibrio cholerae infection_Homo sapiens_hsa051101.95996384
15Insulin secretion_Homo sapiens_hsa049111.95992962
16Renin secretion_Homo sapiens_hsa049241.83254569
17Taste transduction_Homo sapiens_hsa047421.81711659
18Serotonergic synapse_Homo sapiens_hsa047261.72166319
19Cocaine addiction_Homo sapiens_hsa050301.71836634
20Long-term depression_Homo sapiens_hsa047301.71681962
21Gastric acid secretion_Homo sapiens_hsa049711.67725957
22Calcium signaling pathway_Homo sapiens_hsa040201.65174743
23Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.63860259
24Cholinergic synapse_Homo sapiens_hsa047251.62732197
25Vitamin B6 metabolism_Homo sapiens_hsa007501.62034783
26Aldosterone synthesis and secretion_Homo sapiens_hsa049251.60014121
27Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.52136803
28* Oxytocin signaling pathway_Homo sapiens_hsa049211.52100682
29Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.42974577
30* Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.30578866
31Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.29545209
32Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.25180502
33Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.21869088
34Gap junction_Homo sapiens_hsa045401.20374158
35Oxidative phosphorylation_Homo sapiens_hsa001901.19300654
36Phototransduction_Homo sapiens_hsa047441.18744899
37Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.16494337
38cAMP signaling pathway_Homo sapiens_hsa040241.16270579
39GnRH signaling pathway_Homo sapiens_hsa049121.15366864
40Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.14106542
41Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.07244204
42Phosphatidylinositol signaling system_Homo sapiens_hsa040700.98224605
43Rheumatoid arthritis_Homo sapiens_hsa053230.95750537
44cGMP-PKG signaling pathway_Homo sapiens_hsa040220.94107911
45Axon guidance_Homo sapiens_hsa043600.93204679
46Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.89718656
47Type II diabetes mellitus_Homo sapiens_hsa049300.88895409
48ErbB signaling pathway_Homo sapiens_hsa040120.86872363
49Vascular smooth muscle contraction_Homo sapiens_hsa042700.84461130
50Estrogen signaling pathway_Homo sapiens_hsa049150.83665457
51Glioma_Homo sapiens_hsa052140.83218494
52Alzheimers disease_Homo sapiens_hsa050100.82199733
53Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.79318359
54Melanogenesis_Homo sapiens_hsa049160.77166717
55Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.75470212
56* Cardiac muscle contraction_Homo sapiens_hsa042600.73000027
57Carbohydrate digestion and absorption_Homo sapiens_hsa049730.68956139
58Type I diabetes mellitus_Homo sapiens_hsa049400.67007733
59Parkinsons disease_Homo sapiens_hsa050120.66398704
60Oocyte meiosis_Homo sapiens_hsa041140.64153550
61Bile secretion_Homo sapiens_hsa049760.64066138
62Phagosome_Homo sapiens_hsa041450.62506350
63* MAPK signaling pathway_Homo sapiens_hsa040100.60278479
64Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.59297349
65Glucagon signaling pathway_Homo sapiens_hsa049220.58381565
66Pancreatic secretion_Homo sapiens_hsa049720.57003410
67Circadian rhythm_Homo sapiens_hsa047100.56667246
68SNARE interactions in vesicular transport_Homo sapiens_hsa041300.55406065
69Sphingolipid signaling pathway_Homo sapiens_hsa040710.53590821
702-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.52869365
71Ras signaling pathway_Homo sapiens_hsa040140.50570970
72Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.48137880
73Thyroid hormone synthesis_Homo sapiens_hsa049180.46188665
74Alcoholism_Homo sapiens_hsa050340.45716689
75Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.44299412
76* Dilated cardiomyopathy_Homo sapiens_hsa054140.43248372
77Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.40866179
78Inositol phosphate metabolism_Homo sapiens_hsa005620.39969332
79Phospholipase D signaling pathway_Homo sapiens_hsa040720.39681610
80Huntingtons disease_Homo sapiens_hsa050160.39676727
81Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.39198785
82Pyruvate metabolism_Homo sapiens_hsa006200.39110401
83Rap1 signaling pathway_Homo sapiens_hsa040150.38846321
84African trypanosomiasis_Homo sapiens_hsa051430.34805833
85Neurotrophin signaling pathway_Homo sapiens_hsa047220.34149508
86Choline metabolism in cancer_Homo sapiens_hsa052310.33383294
87Dorso-ventral axis formation_Homo sapiens_hsa043200.32849697
88Arginine and proline metabolism_Homo sapiens_hsa003300.31806126
89Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.25751564
90Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.25700340
91Insulin signaling pathway_Homo sapiens_hsa049100.25084262
92VEGF signaling pathway_Homo sapiens_hsa043700.24450312
93Histidine metabolism_Homo sapiens_hsa003400.23934891
94Arginine biosynthesis_Homo sapiens_hsa002200.23220257
95Wnt signaling pathway_Homo sapiens_hsa043100.23179345
96beta-Alanine metabolism_Homo sapiens_hsa004100.22999566
97Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.21754619
98Endocytosis_Homo sapiens_hsa041440.21369904
99Prion diseases_Homo sapiens_hsa050200.20565244
100Regulation of autophagy_Homo sapiens_hsa041400.20558505
101Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.19646289
102Mineral absorption_Homo sapiens_hsa049780.19624124
103Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.19202831
104Renal cell carcinoma_Homo sapiens_hsa052110.19020966
105Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.18313082
106Thyroid hormone signaling pathway_Homo sapiens_hsa049190.18302573
107Tight junction_Homo sapiens_hsa045300.17674131
108Ovarian steroidogenesis_Homo sapiens_hsa049130.17200761
109mTOR signaling pathway_Homo sapiens_hsa041500.16835779
110Fatty acid biosynthesis_Homo sapiens_hsa000610.16691270
111Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.16585337
112Chemokine signaling pathway_Homo sapiens_hsa040620.16582099
113Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.16171607
114AMPK signaling pathway_Homo sapiens_hsa041520.15265759
115Longevity regulating pathway - mammal_Homo sapiens_hsa042110.14394929
116HIF-1 signaling pathway_Homo sapiens_hsa040660.14394337

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