IQSEC2

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 encodes a guanine nucleotide exchange factor for the ARF family of small GTP-binding proteins. The encoded protein is a component of the postsynaptic density at excitatory synapses, and may play a critical role in cytoskeletal and synaptic organization through the activation of selected ARF substrates including ARF1 and ARF6. Mutations in this gene have been implicated in nonsyndromic X-linked mental retardation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)5.99667656
2locomotory exploration behavior (GO:0035641)5.81703394
3regulation of short-term neuronal synaptic plasticity (GO:0048172)5.65406586
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.28328439
5cerebellar granule cell differentiation (GO:0021707)5.18833692
6positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.09213556
7vocalization behavior (GO:0071625)4.98782418
8synaptic vesicle docking involved in exocytosis (GO:0016081)4.90290772
9glutamate secretion (GO:0014047)4.86854290
10synaptic vesicle exocytosis (GO:0016079)4.79612797
11regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.75391723
12regulation of synapse structural plasticity (GO:0051823)4.58677606
13amino acid import (GO:0043090)4.56707983
14regulation of glutamate receptor signaling pathway (GO:1900449)4.51700027
15regulation of synaptic vesicle exocytosis (GO:2000300)4.45372324
16neuronal action potential propagation (GO:0019227)4.28171635
17regulation of neuronal synaptic plasticity (GO:0048168)4.23327790
18exploration behavior (GO:0035640)4.18078508
19sodium ion export (GO:0071436)4.14111151
20cell communication by electrical coupling involved in cardiac conduction (GO:0086064)4.12970470
21membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.07663513
22regulation of long-term neuronal synaptic plasticity (GO:0048169)4.07425342
23regulation of synaptic vesicle transport (GO:1902803)4.04010135
24ionotropic glutamate receptor signaling pathway (GO:0035235)4.03803333
25protein localization to synapse (GO:0035418)3.95887693
26cellular potassium ion homeostasis (GO:0030007)3.93044423
27neurotransmitter secretion (GO:0007269)3.91691551
28layer formation in cerebral cortex (GO:0021819)3.90190015
29potassium ion homeostasis (GO:0055075)3.83676954
30cell communication by electrical coupling (GO:0010644)3.80789232
31dendritic spine morphogenesis (GO:0060997)3.80671086
32proline transport (GO:0015824)3.76414064
33activation of protein kinase A activity (GO:0034199)3.69244074
34negative regulation of dendrite morphogenesis (GO:0050774)3.67403614
35neurotransmitter-gated ion channel clustering (GO:0072578)3.66655881
36long-term memory (GO:0007616)3.61009435
37synaptic transmission, glutamatergic (GO:0035249)3.59625070
38positive regulation of membrane potential (GO:0045838)3.49475658
39regulation of excitatory postsynaptic membrane potential (GO:0060079)3.48790636
40regulation of dendritic spine morphogenesis (GO:0061001)3.48506922
41neuromuscular process controlling balance (GO:0050885)3.47829253
42regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.47759566
43regulation of synapse maturation (GO:0090128)3.47271103
44gamma-aminobutyric acid transport (GO:0015812)3.46400350
45cerebellar Purkinje cell layer development (GO:0021680)3.41297009
46glutamate receptor signaling pathway (GO:0007215)3.37147497
47regulation of synaptic plasticity (GO:0048167)3.32374286
48regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.27576108
49regulation of postsynaptic membrane potential (GO:0060078)3.24122739
50G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.22220791
51neuron-neuron synaptic transmission (GO:0007270)3.21257167
52positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.15133153
53vesicle docking involved in exocytosis (GO:0006904)3.13976407
54positive regulation of dendritic spine morphogenesis (GO:0061003)3.12028539
55cell communication involved in cardiac conduction (GO:0086065)3.11193605
56negative regulation of synaptic transmission, GABAergic (GO:0032229)3.10785798
57membrane depolarization during action potential (GO:0086010)3.10040977
58potassium ion import (GO:0010107)3.09971143
59neuron cell-cell adhesion (GO:0007158)3.09645965
60mating behavior (GO:0007617)3.08979306
61synaptic vesicle endocytosis (GO:0048488)3.08853739
62neuromuscular process controlling posture (GO:0050884)3.06248581
63neurotransmitter transport (GO:0006836)3.05946203
64positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.04538068
65glycine transport (GO:0015816)3.03347736
66positive regulation of synapse maturation (GO:0090129)3.02816940
67acidic amino acid transport (GO:0015800)3.02451735
68regulation of neurotransmitter secretion (GO:0046928)3.02042998
69negative regulation of amyloid precursor protein catabolic process (GO:1902992)2.99131005
70regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)2.98213146
71postsynaptic membrane organization (GO:0001941)2.97878315
72cerebellar Purkinje cell differentiation (GO:0021702)2.95692970
73L-amino acid import (GO:0043092)2.95072327
74gamma-aminobutyric acid signaling pathway (GO:0007214)2.94929958
75positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.94594531
76response to auditory stimulus (GO:0010996)2.94053708
77regulation of dendritic spine development (GO:0060998)2.92464525
78regulation of neurotransmitter levels (GO:0001505)2.91646443
79cellular sodium ion homeostasis (GO:0006883)2.91212816
80membrane depolarization (GO:0051899)2.90578128
81regulation of voltage-gated calcium channel activity (GO:1901385)2.90313742
82regulation of synaptic transmission (GO:0050804)2.89819663
83auditory behavior (GO:0031223)2.89146655
84dendrite morphogenesis (GO:0048813)2.89031337
85dendritic spine organization (GO:0097061)2.87717333
86positive regulation of fibroblast migration (GO:0010763)2.85361266
87regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)2.84769535
88positive regulation of synaptic transmission, GABAergic (GO:0032230)2.84221156
89axon ensheathment in central nervous system (GO:0032291)2.83836254
90central nervous system myelination (GO:0022010)2.83836254
91positive regulation of dendrite development (GO:1900006)2.82663107
92membrane repolarization (GO:0086009)2.81837315
93vesicle docking (GO:0048278)2.81580767
94regulation of vesicle fusion (GO:0031338)2.80880484
95* regulation of ARF protein signal transduction (GO:0032012)2.80746360
96positive regulation of neurotransmitter secretion (GO:0001956)2.80613123
97long-term synaptic potentiation (GO:0060291)2.79844203
98prepulse inhibition (GO:0060134)2.79115325
99neuronal ion channel clustering (GO:0045161)2.79068037
100regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO2.79029126
101positive regulation of dendritic spine development (GO:0060999)2.78307684
102dicarboxylic acid transport (GO:0006835)2.78105630
103regulation of synaptic transmission, glutamatergic (GO:0051966)2.77981740
104regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)2.77518346
105regulation of neurotransmitter transport (GO:0051588)2.76196572
106cytoskeletal anchoring at plasma membrane (GO:0007016)2.75718585
107vesicle transport along microtubule (GO:0047496)2.75037503
108regulation of exocytosis (GO:0017157)2.74433452
109neuromuscular process (GO:0050905)2.74242392
110positive regulation of neurotransmitter transport (GO:0051590)2.73784465
111regulation of ion transmembrane transporter activity (GO:0032412)2.73677177
112chemosensory behavior (GO:0007635)2.73633063
113establishment of synaptic vesicle localization (GO:0097480)2.72915550
114synaptic vesicle transport (GO:0048489)2.72915550
115protein localization to endosome (GO:0036010)2.72703518
116regulation of calcium ion transmembrane transporter activity (GO:1901019)2.70250179
117regulation of calcium ion transmembrane transport (GO:1903169)2.70250179
118L-glutamate transport (GO:0015813)2.69999198
119innervation (GO:0060384)2.69861143
120alanine transport (GO:0032328)2.68446408
121plasma membrane repair (GO:0001778)2.66208379
122regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.65756805
123cell differentiation in hindbrain (GO:0021533)2.65689315
124regulation of early endosome to late endosome transport (GO:2000641)2.65033618
125regulation of transmembrane transporter activity (GO:0022898)2.64626221
126positive regulation of potassium ion transmembrane transport (GO:1901381)2.64175763
127positive regulation of exocytosis (GO:0045921)2.58577005

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.01850313
2SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.86282297
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.82848263
4DROSHA_22980978_ChIP-Seq_HELA_Human2.73740676
5JARID2_20064375_ChIP-Seq_MESCs_Mouse2.71572654
6RARB_27405468_Chip-Seq_BRAIN_Mouse2.71312586
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.66587917
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.66587917
9* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.50130212
10JARID2_20075857_ChIP-Seq_MESCs_Mouse2.48082443
11MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.47315849
12* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.44993618
13SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.39123839
14REST_21632747_ChIP-Seq_MESCs_Mouse2.32758334
15GBX2_23144817_ChIP-Seq_PC3_Human2.30178306
16SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.27828243
17SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.24044439
18EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.17950805
19SUZ12_27294783_Chip-Seq_ESCs_Mouse2.15669049
20EZH2_27294783_Chip-Seq_ESCs_Mouse2.14985535
21EZH2_27304074_Chip-Seq_ESCs_Mouse2.11024594
22IKZF1_21737484_ChIP-ChIP_HCT116_Human2.09619508
23RNF2_27304074_Chip-Seq_ESCs_Mouse2.04446825
24REST_18959480_ChIP-ChIP_MESCs_Mouse1.98222415
25EED_16625203_ChIP-ChIP_MESCs_Mouse1.89947182
26ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.87958257
27RARG_19884340_ChIP-ChIP_MEFs_Mouse1.87621857
28TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.83787205
29ERG_21242973_ChIP-ChIP_JURKAT_Human1.78759865
30THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.73405060
31RACK7_27058665_Chip-Seq_MCF-7_Human1.60618030
32SRY_22984422_ChIP-ChIP_TESTIS_Rat1.59285065
33KDM2B_26808549_Chip-Seq_K562_Human1.55462628
34KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.52647626
35TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.52178346
36NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.48970689
37DNAJC2_21179169_ChIP-ChIP_NT2_Human1.48714973
38UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.48051905
39CREB1_26743006_Chip-Seq_LNCaP_Human1.47020891
40ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.46461103
41TCF7_22412390_ChIP-Seq_EML_Mouse1.45071036
42PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.44731318
43AR_21572438_ChIP-Seq_LNCaP_Human1.44612692
44P68_20966046_ChIP-Seq_HELA_Human1.43037496
45* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.38411644
46ELK3_25401928_ChIP-Seq_HUVEC_Human1.37554357
47WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.36980390
48CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.35710959
49ZFP281_18757296_ChIP-ChIP_E14_Mouse1.35692872
50WT1_25993318_ChIP-Seq_PODOCYTE_Human1.35114308
51GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.33984700
52NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.33938020
53KDM2B_26808549_Chip-Seq_SUP-B15_Human1.30551501
54SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.30507771
55NR3C1_23031785_ChIP-Seq_PC12_Mouse1.29329244
56TET1_21451524_ChIP-Seq_MESCs_Mouse1.29274511
57ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.28360013
58CDX2_19796622_ChIP-Seq_MESCs_Mouse1.27719246
59RING1B_27294783_Chip-Seq_ESCs_Mouse1.26727928
60SA1_27219007_Chip-Seq_ERYTHROID_Human1.25745047
61CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.24531788
62RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.23995788
63SMAD4_21799915_ChIP-Seq_A2780_Human1.23199236
64NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.22575926
65CTCF_27219007_Chip-Seq_ERYTHROID_Human1.21861874
66RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.16142901
67SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.16023462
68SOX2_21211035_ChIP-Seq_LN229_Gbm1.12963513
69P300_27058665_Chip-Seq_ZR-75-30cells_Human1.11464046
70LXR_22292898_ChIP-Seq_THP-1_Human1.11053665
71AR_19668381_ChIP-Seq_PC3_Human1.10658576
72ZNF217_24962896_ChIP-Seq_MCF-7_Human1.09653065
73SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.09639108
74ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.08716254
75EP300_21415370_ChIP-Seq_HL-1_Mouse1.08673677
76ESR2_21235772_ChIP-Seq_MCF-7_Human1.07965991
77OCT4_19829295_ChIP-Seq_ESCs_Human1.06375047
78NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.05087582
79SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.04275729
80SMAD_19615063_ChIP-ChIP_OVARY_Human1.03736539
81SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.02901671
82CTCF_27219007_Chip-Seq_Bcells_Human1.02645052
83PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.02370582
84ZFP281_27345836_Chip-Seq_ESCs_Mouse1.00775316
85VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.00702653
86SMAD3_21741376_ChIP-Seq_HESCs_Human1.00427834
87PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.00369122
88AHR_22903824_ChIP-Seq_MCF-7_Human1.00287049
89RING1B_27294783_Chip-Seq_NPCs_Mouse1.00127183
90ESR1_20079471_ChIP-ChIP_T-47D_Human0.99832061
91ESR1_21235772_ChIP-Seq_MCF-7_Human0.99601324
92TP53_23651856_ChIP-Seq_MEFs_Mouse0.99108655
93TET1_21490601_ChIP-Seq_MESCs_Mouse0.98486375
94TRIM28_21343339_ChIP-Seq_HEK293_Human0.97691694
95SETDB1_19884255_ChIP-Seq_MESCs_Mouse0.97253291
96GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.97141511
97CTBP2_25329375_ChIP-Seq_LNCAP_Human0.96926831
98ZNF263_19887448_ChIP-Seq_K562_Human0.96916053
99PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.96587737
100SMAD4_21741376_ChIP-Seq_HESCs_Human0.96123676
101VDR_21846776_ChIP-Seq_THP-1_Human0.95616564
102CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.95461244
103P53_22127205_ChIP-Seq_FIBROBLAST_Human0.95220964
104ZNF274_21170338_ChIP-Seq_K562_Hela0.94984671
105BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.94502036
106GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.94239349
107AR_25329375_ChIP-Seq_VCAP_Human0.93826422
108MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.93473249
109* ARNT_22903824_ChIP-Seq_MCF-7_Human0.93385816
110GATA1_19941827_ChIP-Seq_MEL_Mouse0.93384516
111SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.93142684
112RXR_22108803_ChIP-Seq_LS180_Human0.92988183
113SA1_27219007_Chip-Seq_Bcells_Human0.92203542
114KDM2B_26808549_Chip-Seq_DND41_Human0.91030858
115TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.90821616
116TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.90507712
117EGR1_19032775_ChIP-ChIP_M12_Human0.90139025
118RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.90080379
119TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.89770525
120KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.89505525
121CLOCK_20551151_ChIP-Seq_293T_Human0.89450971
122CTBP1_25329375_ChIP-Seq_LNCAP_Human0.88876208
123DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.88693011
124STAT3_23295773_ChIP-Seq_U87_Human0.87124202
125TP63_22573176_ChIP-Seq_HFKS_Human0.86572470
126KLF4_19829295_ChIP-Seq_ESCs_Human0.85891038
127CTNNB1_20460455_ChIP-Seq_HCT116_Human0.84227367
128MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.84097131
129SMC4_20622854_ChIP-Seq_HELA_Human0.83462298
130KDM2B_26808549_Chip-Seq_JURKAT_Human0.83452718
131TP53_16413492_ChIP-PET_HCT116_Human0.83161514
132SMAD3_21741376_ChIP-Seq_EPCs_Human0.83045970
133YAP1_20516196_ChIP-Seq_MESCs_Mouse0.82618362
134RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.81219851
135SMAD3_21741376_ChIP-Seq_ESCs_Human0.80670171
136PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.79871469
137SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.78869987
138EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.73937117
139OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.73921852

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity7.44676959
2MP0003635_abnormal_synaptic_transmissio4.02419493
3MP0004270_analgesia3.85646136
4MP0003880_abnormal_central_pattern3.72998654
5MP0009745_abnormal_behavioral_response3.15448732
6MP0002063_abnormal_learning/memory/cond3.12899124
7MP0002064_seizures3.00740667
8MP0002822_catalepsy2.97294722
9MP0009046_muscle_twitch2.74427362
10MP0004858_abnormal_nervous_system2.61492288
11MP0001968_abnormal_touch/_nociception2.60436554
12MP0002572_abnormal_emotion/affect_behav2.45122338
13MP0002734_abnormal_mechanical_nocicepti2.41504432
14MP0002272_abnormal_nervous_system2.29926677
15MP0009780_abnormal_chondrocyte_physiolo2.23022527
16MP0001486_abnormal_startle_reflex2.20502598
17MP0001501_abnormal_sleep_pattern2.18852320
18MP0002735_abnormal_chemical_nociception2.12259928
19MP0005423_abnormal_somatic_nervous2.11602617
20MP0000751_myopathy2.08614938
21MP0003705_abnormal_hypodermis_morpholog2.05422244
22MP0003329_amyloid_beta_deposits2.03797869
23MP0008569_lethality_at_weaning2.02887101
24MP0002909_abnormal_adrenal_gland1.96002395
25MP0002736_abnormal_nociception_after1.94918993
26MP0001440_abnormal_grooming_behavior1.92382000
27MP0002733_abnormal_thermal_nociception1.86571128
28MP0001970_abnormal_pain_threshold1.85719706
29MP0002837_dystrophic_cardiac_calcinosis1.83238463
30MP0004510_myositis1.72889023
31MP0004811_abnormal_neuron_physiology1.72146072
32MP0003075_altered_response_to1.64787726
33MP0002067_abnormal_sensory_capabilities1.61504662
34MP0003879_abnormal_hair_cell1.60630439
35MP0003123_paternal_imprinting1.49848635
36MP0003633_abnormal_nervous_system1.47172043
37MP0008961_abnormal_basal_metabolism1.45571951
38MP0004924_abnormal_behavior1.42803773
39MP0005386_behavior/neurological_phenoty1.42803773
40MP0004215_abnormal_myocardial_fiber1.42166328
41MP0003646_muscle_fatigue1.41271986
42MP0002184_abnormal_innervation1.41211391
43MP0002557_abnormal_social/conspecific_i1.38666541
44MP0000955_abnormal_spinal_cord1.34596823
45MP0001348_abnormal_lacrimal_gland1.32761434
46MP0004885_abnormal_endolymph1.31222880
47MP0002066_abnormal_motor_capabilities/c1.28211044
48MP0004130_abnormal_muscle_cell1.28004052
49MP0005167_abnormal_blood-brain_barrier1.25072722
50MP0000778_abnormal_nervous_system1.23157054
51MP0005409_darkened_coat_color1.22858988
52MP0008874_decreased_physiological_sensi1.19878835
53MP0003690_abnormal_glial_cell1.18432403
54MP0000569_abnormal_digit_pigmentation1.17725004
55MP0004085_abnormal_heartbeat1.17328953
56MP0005058_abnormal_lysosome_morphology1.16970437
57MP0003631_nervous_system_phenotype1.16360352
58MP0002882_abnormal_neuron_morphology1.15308691
59MP0000604_amyloidosis1.14876699
60MP0004145_abnormal_muscle_electrophysio1.14834088
61MP0003137_abnormal_impulse_conducting1.12907288
62MP0004484_altered_response_of1.09956910
63MP0005535_abnormal_body_temperature1.07524297
64MP0001346_abnormal_lacrimal_gland1.07407802
65MP0000678_abnormal_parathyroid_gland1.06331808
66MP0008260_abnormal_autophagy1.05933949
67MP0003283_abnormal_digestive_organ1.05844152
68MP0004084_abnormal_cardiac_muscle1.05160108
69MP0004036_abnormal_muscle_relaxation1.03546894
70MP0001502_abnormal_circadian_rhythm1.01113288
71MP0003172_abnormal_lysosome_physiology1.01109032
72MP0005646_abnormal_pituitary_gland0.97137828
73MP0002249_abnormal_larynx_morphology0.97000176
74MP0000920_abnormal_myelination0.93990087
75MP0001984_abnormal_olfaction0.89682400
76MP0000749_muscle_degeneration0.88600002
77MP0002090_abnormal_vision0.88391160
78MP0001849_ear_inflammation0.88318765
79MP0008872_abnormal_physiological_respon0.87429935
80MP0003634_abnormal_glial_cell0.87196707
81MP0002972_abnormal_cardiac_muscle0.86695464
82MP0004087_abnormal_muscle_fiber0.86479364
83MP0005623_abnormal_meninges_morphology0.86207996
84MP0000747_muscle_weakness0.85732130
85MP0005620_abnormal_muscle_contractility0.85165378
86MP0002069_abnormal_eating/drinking_beha0.84386492
87MP0002152_abnormal_brain_morphology0.82816029
88MP0001177_atelectasis0.79920292
89MP0005166_decreased_susceptibility_to0.79760793
90MP0004742_abnormal_vestibular_system0.79383349
91MP0005330_cardiomyopathy0.79209037
92MP0001905_abnormal_dopamine_level0.78756900
93MP0002229_neurodegeneration0.78042588
94MP0003045_fibrosis0.77434626
95MP0001963_abnormal_hearing_physiology0.75907204
96MP0000013_abnormal_adipose_tissue0.74973672
97MP0003632_abnormal_nervous_system0.74840749
98MP0004233_abnormal_muscle_weight0.74746324
99MP0004142_abnormal_muscle_tone0.74668670
100MP0004043_abnormal_pH_regulation0.72726140
101MP0006276_abnormal_autonomic_nervous0.72578339
102MP0009278_abnormal_bone_marrow0.72221655
103MP0010234_abnormal_vibrissa_follicle0.71580072
104MP0000681_abnormal_thyroid_gland0.70376857
105MP0001958_emphysema0.68977351
106MP0000579_abnormal_nail_morphology0.68218406
107MP0003303_peritoneal_inflammation0.68125491
108MP0002089_abnormal_postnatal_growth/wei0.60582941
109MP0001765_abnormal_ion_homeostasis0.60540375
110MP0003566_abnormal_cell_adhesion0.60272362
111MP0002106_abnormal_muscle_physiology0.60174438
112MP0003191_abnormal_cellular_cholesterol0.59432723
113MP0005388_respiratory_system_phenotype0.59330940
114MP0002133_abnormal_respiratory_system0.59330940
115MP0008775_abnormal_heart_ventricle0.58401128
116MP0002269_muscular_atrophy0.58229659
117MP0006138_congestive_heart_failure0.58050905
118MP0003787_abnormal_imprinting0.57776206
119MP0005165_increased_susceptibility_to0.57119874
120MP0001299_abnormal_eye_distance/0.56371643
121MP0010386_abnormal_urinary_bladder0.55172517
122MP0004147_increased_porphyrin_level0.54316713
123MP0000759_abnormal_skeletal_muscle0.53018978
124MP0005385_cardiovascular_system_phenoty0.52065585
125MP0001544_abnormal_cardiovascular_syste0.52065585
126MP0005451_abnormal_body_composition0.51593998
127MP0003279_aneurysm0.51198982
128MP0010769_abnormal_survival0.49669068
129MP0001943_abnormal_respiration0.48940269
130MP0005670_abnormal_white_adipose0.48399913
131MP0005666_abnormal_adipose_tissue0.48012057
132MP0002896_abnormal_bone_mineralization0.47817209

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)7.83280405
2Focal motor seizures (HP:0011153)6.28856291
3Focal seizures (HP:0007359)5.10313372
4Visual hallucinations (HP:0002367)4.90706876
5Action tremor (HP:0002345)4.35469737
6Progressive cerebellar ataxia (HP:0002073)3.80631984
7Atonic seizures (HP:0010819)3.71126602
8Febrile seizures (HP:0002373)3.61883264
9Epileptic encephalopathy (HP:0200134)3.61770437
10Ventricular fibrillation (HP:0001663)3.55767004
11Supranuclear gaze palsy (HP:0000605)3.51545589
12Bundle branch block (HP:0011710)3.50971674
13Generalized tonic-clonic seizures (HP:0002069)3.46167309
14Absence seizures (HP:0002121)3.38806554
15Abnormality of the lower motor neuron (HP:0002366)3.31906517
16Poor eye contact (HP:0000817)3.20935718
17Tetraplegia (HP:0002445)3.19367278
18Ankle clonus (HP:0011448)3.17546476
19Sudden death (HP:0001699)3.17237361
20Depression (HP:0000716)3.16878399
21Impaired vibration sensation in the lower limbs (HP:0002166)3.16487048
22Postural instability (HP:0002172)3.06610050
23Abnormal social behavior (HP:0012433)3.06055090
24Impaired social interactions (HP:0000735)3.06055090
25Dialeptic seizures (HP:0011146)3.05529938
26Gaze-evoked nystagmus (HP:0000640)3.04640211
27Dysmetria (HP:0001310)3.03593197
28Urinary bladder sphincter dysfunction (HP:0002839)2.97042512
29Dysdiadochokinesis (HP:0002075)2.95323902
30Anxiety (HP:0000739)2.94230950
31Papilledema (HP:0001085)2.93581392
32Dysmetric saccades (HP:0000641)2.83644793
33Broad-based gait (HP:0002136)2.81952754
34Hemiplegia (HP:0002301)2.79414439
35Mutism (HP:0002300)2.78692953
36Torticollis (HP:0000473)2.77621919
37Apathy (HP:0000741)2.75971130
38Cholecystitis (HP:0001082)2.72436510
39Abnormal gallbladder physiology (HP:0012438)2.72436510
40Annular pancreas (HP:0001734)2.68008422
41Genetic anticipation (HP:0003743)2.62014212
42Hand muscle atrophy (HP:0009130)2.61027870
43Abnormal eating behavior (HP:0100738)2.60824880
44Delusions (HP:0000746)2.58277857
45Intention tremor (HP:0002080)2.58218651
46Myotonia (HP:0002486)2.55520865
47Focal dystonia (HP:0004373)2.55110162
48Truncal ataxia (HP:0002078)2.54566703
49Urinary urgency (HP:0000012)2.54183983
50Peripheral hypomyelination (HP:0007182)2.49640955
51Diminished motivation (HP:0000745)2.48377956
52Syncope (HP:0001279)2.46592124
53Akinesia (HP:0002304)2.43993850
54Prolonged QT interval (HP:0001657)2.43014741
55Abnormal EKG (HP:0003115)2.40032990
56Obstructive sleep apnea (HP:0002870)2.39339450
57Neurofibrillary tangles (HP:0002185)2.38158188
58Exercise-induced myalgia (HP:0003738)2.37196843
59Cerebral hypomyelination (HP:0006808)2.37176202
60Heart block (HP:0012722)2.36470884
61Cerebral inclusion bodies (HP:0100314)2.35370656
62Amblyopia (HP:0000646)2.34535772
63Abnormality of binocular vision (HP:0011514)2.32627963
64Diplopia (HP:0000651)2.32627963
65Rapidly progressive (HP:0003678)2.32138608
66Hyperacusis (HP:0010780)2.30597525
67Impaired smooth pursuit (HP:0007772)2.29258471
68Primary atrial arrhythmia (HP:0001692)2.28747560
69Clonus (HP:0002169)2.28632099
70Stereotypic behavior (HP:0000733)2.28111218
71Cerebral aneurysm (HP:0004944)2.25694394
72Craniofacial dystonia (HP:0012179)2.25693783
73Insidious onset (HP:0003587)2.25687721
74Termporal pattern (HP:0011008)2.25687721
75Megalencephaly (HP:0001355)2.24314796
76Atrial fibrillation (HP:0005110)2.24085095
77Lower limb amyotrophy (HP:0007210)2.20983295
78Pheochromocytoma (HP:0002666)2.20918838
79Shallow orbits (HP:0000586)2.20406021
80Bradykinesia (HP:0002067)2.20296053
81Limb dystonia (HP:0002451)2.19711003
82Impaired vibratory sensation (HP:0002495)2.19120889
83Abnormal atrioventricular conduction (HP:0005150)2.18117870
84Pointed chin (HP:0000307)2.17919052
85Sleep apnea (HP:0010535)2.16680913
86Spastic gait (HP:0002064)2.14950543
87Hemiparesis (HP:0001269)2.13258329
88Supraventricular tachycardia (HP:0004755)2.12534617
89Abnormality of ocular smooth pursuit (HP:0000617)2.11200119
90Axonal loss (HP:0003447)2.10198677
91Status epilepticus (HP:0002133)2.09539458
92Ventricular arrhythmia (HP:0004308)2.09062426
93Supraventricular arrhythmia (HP:0005115)2.08253615
94Achilles tendon contracture (HP:0001771)2.07864345
95Scanning speech (HP:0002168)2.04892736
96Turricephaly (HP:0000262)2.04752234
97Hyperventilation (HP:0002883)2.04600119
98Atrioventricular block (HP:0001678)2.03336634
99Lower limb asymmetry (HP:0100559)2.03261778
100Abnormality of the periventricular white matter (HP:0002518)2.03191544
101Progressive inability to walk (HP:0002505)2.01589994
102Bronchomalacia (HP:0002780)2.00843700
103Insomnia (HP:0100785)2.00283559
104Hammertoe (HP:0001765)2.00264929
105Lower limb muscle weakness (HP:0007340)1.99350421
106Bowel incontinence (HP:0002607)1.99326101
107Distal lower limb amyotrophy (HP:0008944)1.98219946
108Spastic tetraparesis (HP:0001285)1.94655890
109Distal sensory impairment (HP:0002936)1.94149549
110Resting tremor (HP:0002322)1.94052079
111Dementia (HP:0000726)1.93413436
112Abnormality of the Achilles tendon (HP:0005109)1.92867556
113Neuronal loss in central nervous system (HP:0002529)1.91246309
114Slow saccadic eye movements (HP:0000514)1.91076181
115Aplasia involving bones of the upper limbs (HP:0009823)1.91033783
116Aplasia of the phalanges of the hand (HP:0009802)1.91033783
117Aplasia involving bones of the extremities (HP:0009825)1.91033783
118Distal lower limb muscle weakness (HP:0009053)1.89652967
119Foot dorsiflexor weakness (HP:0009027)1.87841888
120Rigidity (HP:0002063)1.86476699
121Abnormal large intestine physiology (HP:0012700)1.84854814
122Abnormality of saccadic eye movements (HP:0000570)1.83976543
123Nuclear cataract (HP:0100018)1.82538494
124Incomplete penetrance (HP:0003829)1.82261175
125Hypercortisolism (HP:0001578)1.81911306
126Distal upper limb amyotrophy (HP:0007149)1.81011753
127Upper limb amyotrophy (HP:0009129)1.81011753
128Neuroendocrine neoplasm (HP:0100634)1.79470866
129Excessive salivation (HP:0003781)1.78944482
130Drooling (HP:0002307)1.78944482
131Decreased motor nerve conduction velocity (HP:0003431)1.78882529
132Centrally nucleated skeletal muscle fibers (HP:0003687)1.78305585
133Gait ataxia (HP:0002066)1.78239231
134Difficulty running (HP:0009046)1.78156074
135Postural tremor (HP:0002174)1.77611388
136Spinal canal stenosis (HP:0003416)1.77121954
137Hyperparathyroidism (HP:0000843)1.76135630
138Slow progression (HP:0003677)1.73590043
139Stridor (HP:0010307)1.73499149

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA44.13546310
2NTRK33.82281793
3MAP3K93.80278390
4DAPK23.19117039
5PRKD32.88926519
6KSR22.64504923
7MINK12.39748874
8PAK62.38110668
9CAMKK12.25176721
10MAP3K42.22973056
11MARK11.97279981
12NTRK11.85867904
13RIPK41.85103201
14GRK51.76023683
15STK381.74115146
16MAP2K41.64122769
17LMTK21.63894538
18ARAF1.56696705
19TAOK11.56438626
20RIPK11.54714287
21NTRK21.54565459
22MAP2K71.54549039
23MAP3K21.46327498
24TRIB31.46253898
25DAPK11.46125770
26CDK51.45823249
27PHKG21.38867442
28PHKG11.38867442
29TESK11.35545621
30MAP3K131.29538204
31PRPF4B1.25837727
32SIK21.23014609
33EEF2K1.22371387
34FES1.20758606
35KSR11.20383905
36PRKCH1.17878738
37RET1.14935334
38PINK11.14201165
39TYRO31.13310051
40PTK2B1.13094284
41CAMK11.12695804
42MAP3K121.10935821
43LATS21.09251593
44CAMKK21.07548872
45DMPK0.99382562
46NEK60.98660917
47MAP3K110.97982770
48STK110.95856008
49PRKCG0.94894511
50ERN10.91054786
51PAK30.90601723
52PDK10.90366307
53PDPK10.90023638
54PLK20.87279407
55MAP3K70.86978238
56SMG10.86945470
57MAP3K10.86742805
58SGK30.86559268
59ALK0.86065829
60TAOK20.84539881
61PRKG20.84411729
62BMPR20.83246132
63BRAF0.82105753
64SGK4940.80384035
65SGK2230.80384035
66UHMK10.80268935
67RAF10.79772837
68CAMK2A0.79103653
69SIK10.79059646
70CDK190.78538952
71CAMK40.77726040
72LIMK10.76461251
73CAMK1G0.75842463
74MAPK130.75391885
75PKN20.74955675
76CDK150.73423430
77DAPK30.72197158
78CDK180.71949930
79SGK20.69392872
80CDK140.69111174
81DYRK1A0.68609182
82TNIK0.67811390
83SGK10.66950510
84MARK20.66771672
85NEK10.66561897
86BRSK10.65566879
87CAMK1D0.64330108
88CDK11A0.62296779
89CDC42BPA0.61265373
90MOS0.58296199
91CAMK2B0.57743845
92CDK120.57117591
93WNK10.55520148
94PTK20.52694361
95ROCK20.51851750
96PDGFRA0.51245165
97RPS6KA30.49448490
98IRAK20.49440572
99MAPK120.48814392
100MAP2K10.48774433
101CAMK2D0.48083414
102FYN0.48082106
103FER0.47866231
104RPS6KA20.47588114
105OXSR10.47570986
106DDR20.46971053
107PRKCZ0.44869535
108BMX0.44380325
109PNCK0.44116151
110CAMK2G0.41633460
111PRKD10.40345214
112TTN0.39825276
113PRKD20.39523707
114TNK20.39179620
115PRKCE0.37315957
116MAPKAPK50.37267197
117ICK0.33340017
118MAPK100.33023264
119IRAK30.32576293
120PRKACG0.30463446
121ROCK10.29964758

Predicted pathways (KEGG)

RankGene SetZ-score
1Synaptic vesicle cycle_Homo sapiens_hsa047212.84732843
2Olfactory transduction_Homo sapiens_hsa047402.60094883
3Nicotine addiction_Homo sapiens_hsa050332.56495054
4Circadian entrainment_Homo sapiens_hsa047132.41003849
5Long-term potentiation_Homo sapiens_hsa047202.38225599
6Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.29433572
7Glutamatergic synapse_Homo sapiens_hsa047242.26409763
8GABAergic synapse_Homo sapiens_hsa047272.14776503
9Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.09446484
10Salivary secretion_Homo sapiens_hsa049702.04643342
11Amphetamine addiction_Homo sapiens_hsa050312.03454282
12Morphine addiction_Homo sapiens_hsa050322.02434116
13Nitrogen metabolism_Homo sapiens_hsa009101.99181637
14Gastric acid secretion_Homo sapiens_hsa049711.91065562
15Aldosterone synthesis and secretion_Homo sapiens_hsa049251.88327173
16Insulin secretion_Homo sapiens_hsa049111.86163535
17Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.82492551
18Cholinergic synapse_Homo sapiens_hsa047251.78165436
19Dopaminergic synapse_Homo sapiens_hsa047281.76332033
20Oxytocin signaling pathway_Homo sapiens_hsa049211.58702008
21Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.55403592
22Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.54723242
23Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.51914091
24Vitamin B6 metabolism_Homo sapiens_hsa007501.50258046
25Renin secretion_Homo sapiens_hsa049241.47339820
26Calcium signaling pathway_Homo sapiens_hsa040201.46647464
27GnRH signaling pathway_Homo sapiens_hsa049121.46096795
28Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.37744780
29Type II diabetes mellitus_Homo sapiens_hsa049301.35287654
30Long-term depression_Homo sapiens_hsa047301.31657287
31Taste transduction_Homo sapiens_hsa047421.28388999
32Cocaine addiction_Homo sapiens_hsa050301.27319324
33cAMP signaling pathway_Homo sapiens_hsa040241.23834452
34Cardiac muscle contraction_Homo sapiens_hsa042601.23176534
35Glioma_Homo sapiens_hsa052141.22791945
36Dilated cardiomyopathy_Homo sapiens_hsa054141.20163912
37Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.20064027
38Gap junction_Homo sapiens_hsa045401.15014081
39Serotonergic synapse_Homo sapiens_hsa047261.11035725
40Phosphatidylinositol signaling system_Homo sapiens_hsa040701.10719164
41Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.10112498
42Estrogen signaling pathway_Homo sapiens_hsa049151.08823247
43cGMP-PKG signaling pathway_Homo sapiens_hsa040221.07945060
44Collecting duct acid secretion_Homo sapiens_hsa049660.99546432
45Dorso-ventral axis formation_Homo sapiens_hsa043200.99106030
46Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.96354869
47ErbB signaling pathway_Homo sapiens_hsa040120.92783119
48Phospholipase D signaling pathway_Homo sapiens_hsa040720.92340504
49Melanogenesis_Homo sapiens_hsa049160.92002639
50Vascular smooth muscle contraction_Homo sapiens_hsa042700.90706571
51Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.90572409
52Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.89144708
53Pancreatic secretion_Homo sapiens_hsa049720.86186201
54Bile secretion_Homo sapiens_hsa049760.85899265
55Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.84089119
56VEGF signaling pathway_Homo sapiens_hsa043700.83310044
57Carbohydrate digestion and absorption_Homo sapiens_hsa049730.80875055
58Cyanoamino acid metabolism_Homo sapiens_hsa004600.78104619
59Thyroid hormone synthesis_Homo sapiens_hsa049180.76997092
60Neurotrophin signaling pathway_Homo sapiens_hsa047220.76426173
61Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.76103205
62Pentose phosphate pathway_Homo sapiens_hsa000300.75977945
63Axon guidance_Homo sapiens_hsa043600.75730475
64Choline metabolism in cancer_Homo sapiens_hsa052310.69027737
65Thyroid hormone signaling pathway_Homo sapiens_hsa049190.67681617
66Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.67006541
67Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.66177863
68Arginine biosynthesis_Homo sapiens_hsa002200.66150480
69Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.65325475
70Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.64979243
71Glucagon signaling pathway_Homo sapiens_hsa049220.64322173
72MAPK signaling pathway_Homo sapiens_hsa040100.63314240
73mTOR signaling pathway_Homo sapiens_hsa041500.61643435
74Rap1 signaling pathway_Homo sapiens_hsa040150.59832029
75* Endocytosis_Homo sapiens_hsa041440.57936078
76Insulin signaling pathway_Homo sapiens_hsa049100.57070599
77Arginine and proline metabolism_Homo sapiens_hsa003300.55304115
78Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.55165499
79Sphingolipid signaling pathway_Homo sapiens_hsa040710.54065580
80Prion diseases_Homo sapiens_hsa050200.52959406
81Oocyte meiosis_Homo sapiens_hsa041140.51962584
82Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.51489691
83Non-small cell lung cancer_Homo sapiens_hsa052230.51237498
84AMPK signaling pathway_Homo sapiens_hsa041520.50850553
85Vibrio cholerae infection_Homo sapiens_hsa051100.50285448
86Biosynthesis of amino acids_Homo sapiens_hsa012300.50170768
87Longevity regulating pathway - mammal_Homo sapiens_hsa042110.49563150
88Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.49344742
89AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.49211683
90Chronic myeloid leukemia_Homo sapiens_hsa052200.48801376
91Ras signaling pathway_Homo sapiens_hsa040140.48711328
922-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.48690109
93Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.48370073
94Other glycan degradation_Homo sapiens_hsa005110.47104318
95Inositol phosphate metabolism_Homo sapiens_hsa005620.46736789
96Fructose and mannose metabolism_Homo sapiens_hsa000510.45828522
97SNARE interactions in vesicular transport_Homo sapiens_hsa041300.45360979
98Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.44166235
99Renal cell carcinoma_Homo sapiens_hsa052110.44064663
100Endometrial cancer_Homo sapiens_hsa052130.43984898
101Chemokine signaling pathway_Homo sapiens_hsa040620.43424967
102Adipocytokine signaling pathway_Homo sapiens_hsa049200.43315262
103Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.42132135
104Glycosaminoglycan degradation_Homo sapiens_hsa005310.41827009
105Tight junction_Homo sapiens_hsa045300.41321334
106Proteoglycans in cancer_Homo sapiens_hsa052050.41004761
107African trypanosomiasis_Homo sapiens_hsa051430.40991159
108Platelet activation_Homo sapiens_hsa046110.38208637
109Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.37798443
110Ovarian steroidogenesis_Homo sapiens_hsa049130.36952616
111Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.35751601
112HIF-1 signaling pathway_Homo sapiens_hsa040660.33793776
113Amoebiasis_Homo sapiens_hsa051460.33778010
114Insulin resistance_Homo sapiens_hsa049310.32901466
115Prolactin signaling pathway_Homo sapiens_hsa049170.31168384
116Regulation of actin cytoskeleton_Homo sapiens_hsa048100.30712890
117Central carbon metabolism in cancer_Homo sapiens_hsa052300.29880357

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