RAPGEF5

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: Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RAPGEF5, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1central nervous system myelination (GO:0022010)6.24256275
2axon ensheathment in central nervous system (GO:0032291)6.24256275
3regulation of short-term neuronal synaptic plasticity (GO:0048172)5.23641440
4synaptic vesicle maturation (GO:0016188)4.85776817
5positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.63656895
6positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.49638133
7synaptic vesicle exocytosis (GO:0016079)4.35985432
8synaptic vesicle docking involved in exocytosis (GO:0016081)4.24185902
9locomotory exploration behavior (GO:0035641)4.21556085
10glutamate secretion (GO:0014047)4.21303000
11amino acid import (GO:0043090)4.20519644
12regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.17214838
13cerebellar granule cell differentiation (GO:0021707)4.08559114
14neuronal ion channel clustering (GO:0045161)4.06354250
15positive regulation of synapse maturation (GO:0090129)4.02898926
16regulation of synaptic vesicle exocytosis (GO:2000300)3.97121366
17vocalization behavior (GO:0071625)3.96241910
18regulation of glutamate receptor signaling pathway (GO:1900449)3.86124505
19cellular potassium ion homeostasis (GO:0030007)3.78622464
20regulation of synapse structural plasticity (GO:0051823)3.75810226
21regulation of synaptic vesicle transport (GO:1902803)3.65932495
22synaptic vesicle endocytosis (GO:0048488)3.64986785
23negative regulation of dendrite morphogenesis (GO:0050774)3.63862372
24regulation of neuronal synaptic plasticity (GO:0048168)3.63585142
25cytoskeletal anchoring at plasma membrane (GO:0007016)3.61256739
26ionotropic glutamate receptor signaling pathway (GO:0035235)3.57984911
27cell communication involved in cardiac conduction (GO:0086065)3.55887123
28regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.52839400
29protein localization to synapse (GO:0035418)3.52514761
30regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.48887517
31regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.47852423
32regulation of synapse maturation (GO:0090128)3.47267257
33membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.43905268
34glutamate receptor signaling pathway (GO:0007215)3.41975122
35regulation of long-term neuronal synaptic plasticity (GO:0048169)3.38451212
36sodium ion export (GO:0071436)3.36000834
37presynaptic membrane organization (GO:0097090)3.34572143
38synaptic transmission, glutamatergic (GO:0035249)3.31238122
39myelin maintenance (GO:0043217)3.30812452
40positive regulation of dendritic spine development (GO:0060999)3.26299758
41exploration behavior (GO:0035640)3.26030836
42presynaptic membrane assembly (GO:0097105)3.25413230
43regulation of ARF protein signal transduction (GO:0032012)3.25085831
44layer formation in cerebral cortex (GO:0021819)3.24154803
45neurotransmitter-gated ion channel clustering (GO:0072578)3.24111365
46neuron-neuron synaptic transmission (GO:0007270)3.23802340
47neuron cell-cell adhesion (GO:0007158)3.23000749
48regulation of clathrin-mediated endocytosis (GO:2000369)3.21795285
49negative regulation of synaptic transmission, GABAergic (GO:0032229)3.20371305
50innervation (GO:0060384)3.18577662
51postsynaptic membrane organization (GO:0001941)3.16214555
52regulation of excitatory postsynaptic membrane potential (GO:0060079)3.14954543
53proline transport (GO:0015824)3.13652935
54long-chain fatty acid biosynthetic process (GO:0042759)3.13539434
55neuron recognition (GO:0008038)3.13243653
56regulation of neurotransmitter levels (GO:0001505)3.11312526
57dendrite morphogenesis (GO:0048813)3.11144276
58regulation of postsynaptic membrane potential (GO:0060078)3.08990356
59long-term synaptic potentiation (GO:0060291)3.08250538
60positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.07988157
61gamma-aminobutyric acid signaling pathway (GO:0007214)3.05877431
62myelination (GO:0042552)3.05488731
63neurotransmitter secretion (GO:0007269)3.05017407
64auditory behavior (GO:0031223)3.04606033
65neurotransmitter uptake (GO:0001504)3.04468444
66mating behavior (GO:0007617)3.02533991
67gamma-aminobutyric acid transport (GO:0015812)3.02068037
68long-term memory (GO:0007616)3.01328009
69detection of calcium ion (GO:0005513)2.99597105
70regulation of dendritic spine morphogenesis (GO:0061001)2.99025370
71ensheathment of neurons (GO:0007272)2.98221857
72axon ensheathment (GO:0008366)2.98221857
73regulation of synaptic plasticity (GO:0048167)2.97818001
74long term synaptic depression (GO:0060292)2.97578331
75dendritic spine morphogenesis (GO:0060997)2.97197532
76regulation of synaptic transmission, glutamatergic (GO:0051966)2.96463773
77cerebellar Purkinje cell differentiation (GO:0021702)2.95596302
78negative regulation of inclusion body assembly (GO:0090084)2.94366449
79cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.94195357
80behavioral defense response (GO:0002209)2.94009156
81behavioral fear response (GO:0001662)2.94009156
82axonal fasciculation (GO:0007413)2.93003337
83L-amino acid import (GO:0043092)2.91120305
84acidic amino acid transport (GO:0015800)2.89152291
85nerve growth factor signaling pathway (GO:0038180)2.89071390
86response to histamine (GO:0034776)2.88974281
87astrocyte development (GO:0014002)2.87896179
88G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.86814336
89vesicle transport along microtubule (GO:0047496)2.84670737
90peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)2.82260002
91negative regulation of hormone metabolic process (GO:0032351)2.81028670
92negative regulation of hormone biosynthetic process (GO:0032353)2.81028670
93membrane depolarization during action potential (GO:0086010)2.79943044
94positive regulation of membrane potential (GO:0045838)2.79419329
95neuronal action potential propagation (GO:0019227)2.79091218
96membrane hyperpolarization (GO:0060081)2.78500602
97G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.78370281
98prepulse inhibition (GO:0060134)2.77738340
99cell migration in hindbrain (GO:0021535)2.77412616
100regulation of neurotransmitter secretion (GO:0046928)2.75765231
101regulation of catecholamine uptake involved in synaptic transmission (GO:0051940)2.75557137
102regulation of dopamine uptake involved in synaptic transmission (GO:0051584)2.75557137
103chemosensory behavior (GO:0007635)2.75538297
104fear response (GO:0042596)2.75391826
105membrane assembly (GO:0071709)2.74608557
106sodium ion homeostasis (GO:0055078)2.74008332
107positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.73222708
108potassium ion import (GO:0010107)2.73054904
109membrane depolarization (GO:0051899)2.72827892
110cell communication by electrical coupling (GO:0010644)2.72113619
111positive regulation of dendritic spine morphogenesis (GO:0061003)2.71265053
112regulation of neurotransmitter transport (GO:0051588)2.69808871
113positive regulation of dendrite development (GO:1900006)2.68342938
114striatum development (GO:0021756)2.67672843
115neuromuscular process controlling balance (GO:0050885)2.67498067
116cell differentiation in hindbrain (GO:0021533)2.67114296
117positive regulation of potassium ion transmembrane transport (GO:1901381)2.65435991
118serotonin metabolic process (GO:0042428)2.65335400
119regulation of dendritic spine development (GO:0060998)2.65009820
120positive regulation of potassium ion transport (GO:0043268)2.64972919
121regulation of neurotransmitter uptake (GO:0051580)2.64239472
122regulation of sodium ion transmembrane transporter activity (GO:2000649)2.64050473
123potassium ion homeostasis (GO:0055075)2.63397450
124behavioral response to cocaine (GO:0048148)2.62903609
125regulation of vesicle fusion (GO:0031338)2.61552861
126cellular sodium ion homeostasis (GO:0006883)2.61246620
127response to auditory stimulus (GO:0010996)2.61035465
128positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.60803336
129positive regulation of neurotransmitter transport (GO:0051590)2.60276954
130neurotransmitter transport (GO:0006836)2.59294354
131* regulation of Rap GTPase activity (GO:0032317)2.58936979
132positive regulation of sodium ion transmembrane transporter activity (GO:2000651)2.58742374
133clathrin coat assembly (GO:0048268)2.58336806
134positive regulation of neurotransmitter secretion (GO:0001956)2.56738107
135transmission of nerve impulse (GO:0019226)2.56316366
136activation of protein kinase A activity (GO:0034199)2.56187447
137regulation of voltage-gated calcium channel activity (GO:1901385)2.55536903
138neuromuscular process controlling posture (GO:0050884)2.53045374
139organelle transport along microtubule (GO:0072384)2.51622408

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human4.62967590
2GBX2_23144817_ChIP-Seq_PC3_Human3.60039813
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.45499584
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.44712074
5JARID2_20064375_ChIP-Seq_MESCs_Mouse2.29557034
6DROSHA_22980978_ChIP-Seq_HELA_Human2.15098802
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.14594533
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.14594533
9MTF2_20144788_ChIP-Seq_MESCs_Mouse2.13269359
10ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.12052364
11SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.09917293
12SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.08349683
13MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.02562910
14SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.99885070
15REST_21632747_ChIP-Seq_MESCs_Mouse1.99308851
16SMAD_19615063_ChIP-ChIP_OVARY_Human1.97164532
17SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.96801299
18RARB_27405468_Chip-Seq_BRAIN_Mouse1.92605356
19JARID2_20075857_ChIP-Seq_MESCs_Mouse1.87482804
20SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.85864633
21TAF15_26573619_Chip-Seq_HEK293_Human1.85605571
22EZH2_27304074_Chip-Seq_ESCs_Mouse1.82140146
23AR_21572438_ChIP-Seq_LNCaP_Human1.76947166
24RNF2_27304074_Chip-Seq_ESCs_Mouse1.76573776
25SUZ12_27294783_Chip-Seq_ESCs_Mouse1.76053863
26EZH2_27294783_Chip-Seq_ESCs_Mouse1.74537233
27SMAD4_21799915_ChIP-Seq_A2780_Human1.70806370
28* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.63587608
29EED_16625203_ChIP-ChIP_MESCs_Mouse1.61678645
30GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.60062082
31PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.57577227
32* CTNNB1_20460455_ChIP-Seq_HCT116_Human1.54630552
33REST_18959480_ChIP-ChIP_MESCs_Mouse1.51345211
34* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.50191793
35THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.49458117
36CTBP2_25329375_ChIP-Seq_LNCAP_Human1.49092409
37SMAD3_21741376_ChIP-Seq_EPCs_Human1.47536017
38SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.45914002
39CTBP1_25329375_ChIP-Seq_LNCAP_Human1.45545741
40ZFP57_27257070_Chip-Seq_ESCs_Mouse1.44216221
41STAT3_23295773_ChIP-Seq_U87_Human1.44115486
42ESR2_21235772_ChIP-Seq_MCF-7_Human1.43422407
43P300_19829295_ChIP-Seq_ESCs_Human1.42002980
44CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.38741844
45RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.38522361
46CDX2_19796622_ChIP-Seq_MESCs_Mouse1.37875004
47PIAS1_25552417_ChIP-Seq_VCAP_Human1.37487213
48AR_25329375_ChIP-Seq_VCAP_Human1.37033177
49AHR_22903824_ChIP-Seq_MCF-7_Human1.36437111
50* SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.36170836
51EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.34821845
52MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.33912234
53ARNT_22903824_ChIP-Seq_MCF-7_Human1.33546939
54SOX2_21211035_ChIP-Seq_LN229_Gbm1.33465351
55NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.33373493
56* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.33289850
57* NR3C1_23031785_ChIP-Seq_PC12_Mouse1.33194644
58* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.32875348
59IGF1R_20145208_ChIP-Seq_DFB_Human1.31206260
60TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.30238527
61TP53_16413492_ChIP-PET_HCT116_Human1.29259132
62* EP300_21415370_ChIP-Seq_HL-1_Mouse1.26615299
63IKZF1_21737484_ChIP-ChIP_HCT116_Human1.25409669
64POU3F2_20337985_ChIP-ChIP_501MEL_Human1.24646640
65* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.24305829
66TOP2B_26459242_ChIP-Seq_MCF-7_Human1.22581866
67P53_22127205_ChIP-Seq_FIBROBLAST_Human1.22129347
68TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.20981958
69PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.20919424
70SMAD3_21741376_ChIP-Seq_HESCs_Human1.20191606
71* TCF4_23295773_ChIP-Seq_U87_Human1.16775998
72TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.16724176
73PRDM14_20953172_ChIP-Seq_ESCs_Human1.14366517
74ESR1_20079471_ChIP-ChIP_T-47D_Human1.13479306
75WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.13182431
76* FOXA2_19822575_ChIP-Seq_HepG2_Human1.13031295
77BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.12910952
78AR_19668381_ChIP-Seq_PC3_Human1.12787143
79BCAT_22108803_ChIP-Seq_LS180_Human1.11887431
80FUS_26573619_Chip-Seq_HEK293_Human1.11788616
81GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.11022139
82ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.10653500
83TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.10035566
84RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.09749615
85NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.09405162
86UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.07760360
87VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.07607026
88* RING1B_27294783_Chip-Seq_NPCs_Mouse1.07461231
89NR3C1_21868756_ChIP-Seq_MCF10A_Human1.06563175
90MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.06202647
91YAP1_20516196_ChIP-Seq_MESCs_Mouse1.05554971
92TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.05349864
93SMAD4_21741376_ChIP-Seq_HESCs_Human1.04931478
94ERG_21242973_ChIP-ChIP_JURKAT_Human1.03897300
95POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.02512347
96TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.02512347
97EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.01974755
98RING1B_27294783_Chip-Seq_ESCs_Mouse1.01901290
99NANOG_18555785_Chip-Seq_ESCs_Mouse1.01570863
100KDM2B_26808549_Chip-Seq_K562_Human1.00435368
101GATA2_21666600_ChIP-Seq_HMVEC_Human1.00286889
102LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.00222070
103TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.98607216
104PHC1_16625203_ChIP-ChIP_MESCs_Mouse0.98173162
105ZFP281_27345836_Chip-Seq_ESCs_Mouse0.97912237
106CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons0.97423158
107RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.97074220
108SMAD4_21741376_ChIP-Seq_EPCs_Human0.95464747
109* RUNX2_22187159_ChIP-Seq_PCA_Human0.95290283
110SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.95185176
111SMAD3_21741376_ChIP-Seq_ESCs_Human0.94515060
112DNAJC2_21179169_ChIP-ChIP_NT2_Human0.94082608
113* STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.94039942
114RXR_22108803_ChIP-Seq_LS180_Human0.93727177
115RNF2_27304074_Chip-Seq_NSC_Mouse0.93691522
116CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.93415789
117TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.93092346
118ESR1_21235772_ChIP-Seq_MCF-7_Human0.89492902
119* DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.88833273
120CBX2_27304074_Chip-Seq_ESCs_Mouse0.87717060
121ZFP281_18757296_ChIP-ChIP_E14_Mouse0.86661498

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.38693361
2MP0003880_abnormal_central_pattern4.71725788
3MP0003635_abnormal_synaptic_transmissio3.64387523
4MP0004270_analgesia3.50193951
5MP0002063_abnormal_learning/memory/cond3.02557398
6MP0009745_abnormal_behavioral_response2.77309791
7MP0002064_seizures2.67205260
8MP0002822_catalepsy2.56421181
9MP0001968_abnormal_touch/_nociception2.39261556
10MP0002572_abnormal_emotion/affect_behav2.37144002
11MP0001486_abnormal_startle_reflex2.29968277
12MP0005423_abnormal_somatic_nervous2.29060489
13MP0000569_abnormal_digit_pigmentation2.27793893
14MP0002734_abnormal_mechanical_nocicepti2.19515784
15MP0005551_abnormal_eye_electrophysiolog2.18940495
16MP0005167_abnormal_blood-brain_barrier2.16553568
17MP0010368_abnormal_lymphatic_system2.08235767
18MP0002272_abnormal_nervous_system2.07295626
19MP0009046_muscle_twitch1.94407565
20MP0001501_abnormal_sleep_pattern1.88564172
21MP0002736_abnormal_nociception_after1.88042972
22MP0000778_abnormal_nervous_system1.87731010
23MP0003329_amyloid_beta_deposits1.86103038
24MP0001440_abnormal_grooming_behavior1.82123054
25MP0009780_abnormal_chondrocyte_physiolo1.72959705
26MP0001905_abnormal_dopamine_level1.70525460
27MP0004924_abnormal_behavior1.64460738
28MP0005386_behavior/neurological_phenoty1.64460738
29MP0003787_abnormal_imprinting1.63682092
30MP0002067_abnormal_sensory_capabilities1.62866213
31MP0001970_abnormal_pain_threshold1.52125837
32MP0002735_abnormal_chemical_nociception1.50975529
33MP0010234_abnormal_vibrissa_follicle1.50305797
34MP0003633_abnormal_nervous_system1.46933998
35MP0004215_abnormal_myocardial_fiber1.46837387
36MP0002733_abnormal_thermal_nociception1.46672416
37MP0004811_abnormal_neuron_physiology1.46451384
38MP0001502_abnormal_circadian_rhythm1.46328908
39MP0001529_abnormal_vocalization1.44688493
40MP0002184_abnormal_innervation1.37120851
41MP0004484_altered_response_of1.36909021
42MP0003646_muscle_fatigue1.36185509
43MP0002882_abnormal_neuron_morphology1.35829693
44MP0005409_darkened_coat_color1.35075657
45MP0002090_abnormal_vision1.32963374
46MP0003631_nervous_system_phenotype1.31267460
47MP0003075_altered_response_to1.30015037
48MP0005646_abnormal_pituitary_gland1.29331386
49MP0000678_abnormal_parathyroid_gland1.29035928
50MP0008569_lethality_at_weaning1.28671279
51MP0002557_abnormal_social/conspecific_i1.28579046
52MP0006072_abnormal_retinal_apoptosis1.26526922
53MP0002229_neurodegeneration1.24601540
54MP0006276_abnormal_autonomic_nervous1.21865747
55MP0004742_abnormal_vestibular_system1.21085052
56MP0004510_myositis1.19756350
57MP0004885_abnormal_endolymph1.19719773
58MP0004858_abnormal_nervous_system1.19685785
59MP0003690_abnormal_glial_cell1.19360073
60MP0004085_abnormal_heartbeat1.19077391
61MP0000566_synostosis1.19061463
62MP0003879_abnormal_hair_cell1.18902512
63MP0001879_abnormal_lymphatic_vessel1.18271708
64MP0000751_myopathy1.17774344
65MP0005187_abnormal_penis_morphology1.17446432
66MP0003950_abnormal_plasma_membrane1.17189033
67MP0010386_abnormal_urinary_bladder1.16771146
68MP0003122_maternal_imprinting1.15091121
69MP0000955_abnormal_spinal_cord1.13042993
70MP0002066_abnormal_motor_capabilities/c1.12828121
71MP0002909_abnormal_adrenal_gland1.08709455
72MP0002332_abnormal_exercise_endurance1.08554092
73MP0000604_amyloidosis1.07799907
74MP0003123_paternal_imprinting1.06050310
75MP0004036_abnormal_muscle_relaxation1.03490912
76MP0004147_increased_porphyrin_level1.03288985
77MP0003632_abnormal_nervous_system1.03267558
78MP0005253_abnormal_eye_physiology1.02392057
79MP0001299_abnormal_eye_distance/1.01237033
80MP0002152_abnormal_brain_morphology0.99859081
81MP0005595_abnormal_vascular_smooth0.99660155
82MP0005195_abnormal_posterior_eye0.97544633
83MP0004084_abnormal_cardiac_muscle0.97136236
84MP0008874_decreased_physiological_sensi0.96574075
85MP0002638_abnormal_pupillary_reflex0.95778446
86MP0001485_abnormal_pinna_reflex0.95498137
87MP0004233_abnormal_muscle_weight0.91969355
88MP0001346_abnormal_lacrimal_gland0.88704284
89MP0001851_eye_inflammation0.88533798
90MP0004145_abnormal_muscle_electrophysio0.88009567
91MP0001963_abnormal_hearing_physiology0.87375412
92MP0002102_abnormal_ear_morphology0.84415308
93MP0001177_atelectasis0.83736236
94MP0003868_abnormal_feces_composition0.83582898
95MP0002752_abnormal_somatic_nervous0.83204882
96MP0003303_peritoneal_inflammation0.81580157
97MP0005645_abnormal_hypothalamus_physiol0.81355047
98MP0003634_abnormal_glial_cell0.81297757
99MP0002653_abnormal_ependyma_morphology0.79822760
100MP0001984_abnormal_olfaction0.77934333
101MP0000920_abnormal_myelination0.77217493
102MP0003045_fibrosis0.76759624
103MP0004782_abnormal_surfactant_physiolog0.75310031
104MP0005620_abnormal_muscle_contractility0.73180788
105MP0004130_abnormal_muscle_cell0.72000561
106MP0005394_taste/olfaction_phenotype0.71491628
107MP0005499_abnormal_olfactory_system0.71491628
108MP0002837_dystrophic_cardiac_calcinosis0.70386649
109MP0003172_abnormal_lysosome_physiology0.68626826
110MP0006138_congestive_heart_failure0.67181212
111MP0004883_abnormal_blood_vessel0.62945558
112MP0008872_abnormal_physiological_respon0.62489108
113MP0004185_abnormal_adipocyte_glucose0.62311825
114MP0010769_abnormal_survival0.62272172
115MP0010770_preweaning_lethality0.60092353
116MP0002082_postnatal_lethality0.60092353
117MP0002069_abnormal_eating/drinking_beha0.59704642
118MP0005388_respiratory_system_phenotype0.59607325
119MP0002133_abnormal_respiratory_system0.59607325
120MP0005535_abnormal_body_temperature0.57895997
121MP0010768_mortality/aging0.57582251
122MP0001943_abnormal_respiration0.57550250
123MP0001986_abnormal_taste_sensitivity0.57022019
124MP0000747_muscle_weakness0.55094695
125MP0000579_abnormal_nail_morphology0.54607974
126MP0005623_abnormal_meninges_morphology0.50808863
127MP0005670_abnormal_white_adipose0.50324291
128MP0003137_abnormal_impulse_conducting0.47817765
129MP0001765_abnormal_ion_homeostasis0.47434948
130MP0003861_abnormal_nervous_system0.47427835

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)5.67591916
2Myokymia (HP:0002411)5.40121761
3Focal seizures (HP:0007359)4.31700873
4Congenital stationary night blindness (HP:0007642)3.99874318
5Epileptic encephalopathy (HP:0200134)3.81741035
6Mutism (HP:0002300)3.75965449
7Supranuclear gaze palsy (HP:0000605)3.68863096
8Alacrima (HP:0000522)3.58870062
9Arterial tortuosity (HP:0005116)3.56789464
10Central scotoma (HP:0000603)3.52222457
11Neurofibrillary tangles (HP:0002185)3.47693023
12Abnormality of macular pigmentation (HP:0008002)3.40103765
13Febrile seizures (HP:0002373)3.39105903
14Visual hallucinations (HP:0002367)3.35130266
15Vascular tortuosity (HP:0004948)3.34231595
16Atonic seizures (HP:0010819)3.30903653
17Progressive cerebellar ataxia (HP:0002073)3.27178375
18Cerebral inclusion bodies (HP:0100314)3.22907137
19Action tremor (HP:0002345)3.21475727
20Absence seizures (HP:0002121)3.09904284
21Dysmetria (HP:0001310)2.98715827
22Termporal pattern (HP:0011008)2.97321687
23Insidious onset (HP:0003587)2.97321687
24Generalized tonic-clonic seizures (HP:0002069)2.96812828
25Dialeptic seizures (HP:0011146)2.96323588
26Increased circulating renin level (HP:0000848)2.96134688
27Urinary bladder sphincter dysfunction (HP:0002839)2.93852023
28Impaired vibration sensation in the lower limbs (HP:0002166)2.92996964
29Drooling (HP:0002307)2.82701318
30Excessive salivation (HP:0003781)2.82701318
31Decreased lacrimation (HP:0000633)2.79058067
32Postural instability (HP:0002172)2.78632500
33Obstructive sleep apnea (HP:0002870)2.77124644
34Ankle clonus (HP:0011448)2.76325604
35Abnormality of the corticospinal tract (HP:0002492)2.69957225
36Amblyopia (HP:0000646)2.64651315
37Hemiparesis (HP:0001269)2.63975429
38Abnormal eating behavior (HP:0100738)2.59257825
39Scotoma (HP:0000575)2.58043697
40Limb dystonia (HP:0002451)2.56597792
41Broad-based gait (HP:0002136)2.53899601
42Dysdiadochokinesis (HP:0002075)2.49708943
43Aplasia involving bones of the upper limbs (HP:0009823)2.49199260
44Aplasia of the phalanges of the hand (HP:0009802)2.49199260
45Aplasia involving bones of the extremities (HP:0009825)2.49199260
46Abnormality of the lower motor neuron (HP:0002366)2.47022730
47Akinesia (HP:0002304)2.43428888
48Depression (HP:0000716)2.43053213
49Neuronal loss in central nervous system (HP:0002529)2.42415049
50Hyperphosphatemia (HP:0002905)2.42010217
51Spastic gait (HP:0002064)2.41867281
52Status epilepticus (HP:0002133)2.41754920
53Genetic anticipation (HP:0003743)2.40371198
54Bony spicule pigmentary retinopathy (HP:0007737)2.39397487
55Truncal ataxia (HP:0002078)2.39052419
56Annular pancreas (HP:0001734)2.37376215
57Urinary urgency (HP:0000012)2.35694300
58Syncope (HP:0001279)2.33320777
59Poor eye contact (HP:0000817)2.32899099
60Bronchomalacia (HP:0002780)2.32615465
61Bundle branch block (HP:0011710)2.32407176
62Degeneration of the lateral corticospinal tracts (HP:0002314)2.32294359
63Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.32294359
64Ventricular fibrillation (HP:0001663)2.31852178
65Papilledema (HP:0001085)2.29234253
66Hemiplegia (HP:0002301)2.28802371
67Rapidly progressive (HP:0003678)2.26804649
68Clonus (HP:0002169)2.26318188
69Lower limb muscle weakness (HP:0007340)2.26181100
70Gaze-evoked nystagmus (HP:0000640)2.25461223
71Cerebral hypomyelination (HP:0006808)2.25003479
72Intention tremor (HP:0002080)2.23849195
73Scanning speech (HP:0002168)2.19170821
74Polyphagia (HP:0002591)2.19068034
75Peripheral hypomyelination (HP:0007182)2.18967203
76Incomplete penetrance (HP:0003829)2.14258873
77Onion bulb formation (HP:0003383)2.14000766
78Morphological abnormality of the pyramidal tract (HP:0002062)2.13324349
79Absent speech (HP:0001344)2.11350887
80Spastic tetraparesis (HP:0001285)2.11337414
81Apathy (HP:0000741)2.11110949
82Abnormal rod and cone electroretinograms (HP:0008323)2.09609379
83Decreased number of peripheral myelinated nerve fibers (HP:0003380)2.09275395
84Tetraplegia (HP:0002445)2.07663866
85Inappropriate behavior (HP:0000719)2.07387761
86Impaired social interactions (HP:0000735)2.07129140
87Abnormal social behavior (HP:0012433)2.07129140
88Megalencephaly (HP:0001355)2.06903772
89Diplopia (HP:0000651)2.04638206
90Abnormality of binocular vision (HP:0011514)2.04638206
91Abnormality of salivation (HP:0100755)2.04505028
92Exotropia (HP:0000577)2.02763745
93Anxiety (HP:0000739)2.00315840
94Anterior segment dysgenesis (HP:0007700)1.99799416
95Decreased motor nerve conduction velocity (HP:0003431)1.99080606
96Urethral obstruction (HP:0000796)1.98413929
97Torticollis (HP:0000473)1.98292088
98Abnormality of the periventricular white matter (HP:0002518)1.97409728
99Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.97026446
100Sleep apnea (HP:0010535)1.96905447
101Stereotypic behavior (HP:0000733)1.93487091
102Generalized myoclonic seizures (HP:0002123)1.93131559
103Insomnia (HP:0100785)1.91904902
104Impaired vibratory sensation (HP:0002495)1.91067743
105Choroideremia (HP:0001139)1.90626856
106Rigidity (HP:0002063)1.90275495
107Cerebral hemorrhage (HP:0001342)1.90205085
108Focal dystonia (HP:0004373)1.89449863
109Pheochromocytoma (HP:0002666)1.87914673
110Primary atrial arrhythmia (HP:0001692)1.87894737
111Choreoathetosis (HP:0001266)1.87086129
112Atrial fibrillation (HP:0005110)1.87049496
113Thickened helices (HP:0000391)1.86557738
114Heart block (HP:0012722)1.85404361
115Hyperventilation (HP:0002883)1.84251039
116Epileptiform EEG discharges (HP:0011182)1.84238347
117Hypsarrhythmia (HP:0002521)1.83958451
118Progressive inability to walk (HP:0002505)1.83584102
119Hematochezia (HP:0002573)1.83409031
120Prolonged QT interval (HP:0001657)1.82863357
121Craniofacial dystonia (HP:0012179)1.81640019
122Spastic paraplegia (HP:0001258)1.79863208
123Retinal atrophy (HP:0001105)1.77511295
124Bradykinesia (HP:0002067)1.76755863
125Diminished motivation (HP:0000745)1.76556394
126Hammertoe (HP:0001765)1.76484631
127Impaired smooth pursuit (HP:0007772)1.76004563
128Turricephaly (HP:0000262)1.75968974
129Hyporeflexia of lower limbs (HP:0002600)1.75660512
130Abnormality of ocular smooth pursuit (HP:0000617)1.75077742
131Gait imbalance (HP:0002141)1.74814647
132Dysmetric saccades (HP:0000641)1.74566013
133Specific learning disability (HP:0001328)1.73877230
134Supraventricular arrhythmia (HP:0005115)1.73476755
135EEG with generalized epileptiform discharges (HP:0011198)1.71534171
136Pointed chin (HP:0000307)1.71288669
137Papillary thyroid carcinoma (HP:0002895)1.71143721
138Lower limb asymmetry (HP:0100559)1.70865214

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP3K95.02133642
2EPHA43.75901649
3NTRK33.36522540
4MAP3K43.23605096
5KSR23.04229087
6UHMK12.93219772
7TIE12.61178458
8PAK62.52676423
9MARK12.27029627
10DAPK22.04552004
11PRKD32.01908493
12MAP3K131.94521098
13MAP2K71.83793620
14MINK11.80410763
15MAP3K61.80070130
16NTRK21.72730232
17MAP2K41.70896944
18KSR11.65873859
19RIPK41.64734280
20LATS21.55671907
21STK381.49473390
22PTK2B1.44502645
23TGFBR21.36812777
24NTRK11.35974447
25ARAF1.30858577
26FES1.28377661
27MAPK131.27302345
28PLK21.26496253
29CDK51.26010981
30RAF11.21404382
31TYRO31.21339446
32SGK2231.18213655
33SGK4941.18213655
34CAMK1G1.18097205
35DMPK1.15220699
36RET1.11950317
37WNK11.07066412
38TAOK11.04803039
39NEK61.04201592
40FGFR21.03859231
41MAPKAPK51.03780082
42MARK21.03149789
43GRK51.02569610
44CAMKK11.00695266
45FER0.99757625
46FGR0.97726791
47CAMK2A0.96041895
48BMPR20.95882282
49MAP3K20.93082638
50SIK20.92623804
51PKN10.92504820
52PDGFRA0.91624626
53MAPK120.89634640
54PINK10.89002761
55MET0.88913112
56MOS0.87106877
57CSNK1G20.84003194
58CAMKK20.83938827
59PNCK0.83203574
60CAMK2G0.83077700
61MAP3K120.82758319
62SGK20.82547796
63LMTK20.81887444
64CAMK1D0.77877295
65CAMK10.76599007
66AKT30.76343990
67STK110.76325678
68DAPK10.73798892
69STK390.72482648
70ERBB40.72027372
71ICK0.71497340
72ALK0.71241419
73PDK10.70544484
74OXSR10.68484175
75BRAF0.68180978
76PDPK10.66380038
77RIPK10.65119927
78SGK10.64724193
79GRK70.64419550
80DYRK1A0.63778640
81SGK30.61709842
82PRKCH0.60769170
83PHKG10.59862877
84PHKG20.59862877
85ROCK20.58984111
86TNIK0.58967280
87CAMK2D0.58248904
88FGFR30.57657279
89LATS10.55743873
90MAP3K10.51322199
91CDK180.50934418
92CAMK2B0.50335113
93BCR0.50264171
94PDK20.50258882
95CDK150.49856949
96MUSK0.49174365
97PRKCG0.48718158
98MAPK100.48441940
99MAP2K10.47313639
100CDK140.45870954
101PRKCZ0.45811884
102KDR0.45415052
103DAPK30.44925007
104PRKG10.43908221
105ERBB20.43258158
106PRKD10.42812505
107RPS6KA30.41988356
108ROCK10.41056121
109CASK0.39299681
110FGFR40.39288536
111MAPK70.39007895
112PAK30.38284340
113PRKAA10.37968039
114PTK20.37959462
115CDK11A0.37765139
116PRPF4B0.37584360
117PDGFRB0.37444601
118GRK10.37327298
119MAP3K70.36243873
120CAMK40.35723010
121CDK80.35109725
122FYN0.34680036

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050332.82548460
2Synaptic vesicle cycle_Homo sapiens_hsa047212.53082232
3Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.36052464
4Circadian entrainment_Homo sapiens_hsa047132.35110349
5Glutamatergic synapse_Homo sapiens_hsa047242.28368023
6GABAergic synapse_Homo sapiens_hsa047272.20459403
7Long-term potentiation_Homo sapiens_hsa047202.19422251
8Olfactory transduction_Homo sapiens_hsa047402.18160096
9Morphine addiction_Homo sapiens_hsa050322.12912429
10Amphetamine addiction_Homo sapiens_hsa050312.02909812
11Salivary secretion_Homo sapiens_hsa049701.99404773
12Phototransduction_Homo sapiens_hsa047441.92216107
13Dopaminergic synapse_Homo sapiens_hsa047281.90147911
14Renin secretion_Homo sapiens_hsa049241.87555399
15Cholinergic synapse_Homo sapiens_hsa047251.85529465
16Aldosterone synthesis and secretion_Homo sapiens_hsa049251.76916867
17GnRH signaling pathway_Homo sapiens_hsa049121.71598291
18Oxytocin signaling pathway_Homo sapiens_hsa049211.69805779
19Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.67151567
20Gastric acid secretion_Homo sapiens_hsa049711.64863260
21Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.61327255
22Insulin secretion_Homo sapiens_hsa049111.61231180
23Serotonergic synapse_Homo sapiens_hsa047261.58574692
24Long-term depression_Homo sapiens_hsa047301.53869169
25Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.51912613
26Histidine metabolism_Homo sapiens_hsa003401.47835151
27Cocaine addiction_Homo sapiens_hsa050301.43544496
28Calcium signaling pathway_Homo sapiens_hsa040201.39398447
29Dorso-ventral axis formation_Homo sapiens_hsa043201.37778266
30Phosphatidylinositol signaling system_Homo sapiens_hsa040701.36352188
31cAMP signaling pathway_Homo sapiens_hsa040241.33874883
32Gap junction_Homo sapiens_hsa045401.31751510
33cGMP-PKG signaling pathway_Homo sapiens_hsa040221.24432626
34Estrogen signaling pathway_Homo sapiens_hsa049151.24394094
35Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.21078227
36Glioma_Homo sapiens_hsa052141.17229287
37Axon guidance_Homo sapiens_hsa043601.15529126
38VEGF signaling pathway_Homo sapiens_hsa043701.13689865
39Taste transduction_Homo sapiens_hsa047421.13616633
40Vascular smooth muscle contraction_Homo sapiens_hsa042701.11790902
41Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.11768259
42Choline metabolism in cancer_Homo sapiens_hsa052311.10809350
43Phospholipase D signaling pathway_Homo sapiens_hsa040721.10234900
44Type II diabetes mellitus_Homo sapiens_hsa049301.08118170
45Dilated cardiomyopathy_Homo sapiens_hsa054141.04143412
46Vitamin B6 metabolism_Homo sapiens_hsa007501.03714017
47ErbB signaling pathway_Homo sapiens_hsa040121.03087876
48Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050141.01456644
49Arginine biosynthesis_Homo sapiens_hsa002200.99997108
50Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.99596686
51Renal cell carcinoma_Homo sapiens_hsa052110.99315802
52Collecting duct acid secretion_Homo sapiens_hsa049660.97929986
53Pancreatic secretion_Homo sapiens_hsa049720.96828216
54Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.94427920
55Circadian rhythm_Homo sapiens_hsa047100.91622867
56Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.88364396
57Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.86540868
58Melanogenesis_Homo sapiens_hsa049160.84464024
59Oocyte meiosis_Homo sapiens_hsa041140.84256505
60Ovarian steroidogenesis_Homo sapiens_hsa049130.83116745
61* Ras signaling pathway_Homo sapiens_hsa040140.82850621
62MAPK signaling pathway_Homo sapiens_hsa040100.81350631
63Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.79730740
64Thyroid hormone signaling pathway_Homo sapiens_hsa049190.79466517
65Arginine and proline metabolism_Homo sapiens_hsa003300.78059834
66* Rap1 signaling pathway_Homo sapiens_hsa040150.77909200
67Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.77710067
68Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.76615182
69Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.76230033
70ABC transporters_Homo sapiens_hsa020100.75439461
71Sphingolipid signaling pathway_Homo sapiens_hsa040710.74173503
72Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.73742434
73Inositol phosphate metabolism_Homo sapiens_hsa005620.73495269
74Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.71624489
75mTOR signaling pathway_Homo sapiens_hsa041500.68611146
76Ether lipid metabolism_Homo sapiens_hsa005650.67983406
77Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.67006080
78Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.65224549
79Endocytosis_Homo sapiens_hsa041440.64564341
80Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.62333248
81Colorectal cancer_Homo sapiens_hsa052100.61554175
82Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.61279302
83Neurotrophin signaling pathway_Homo sapiens_hsa047220.59753265
84Nitrogen metabolism_Homo sapiens_hsa009100.59276999
85Pancreatic cancer_Homo sapiens_hsa052120.57634364
86Alcoholism_Homo sapiens_hsa050340.56963061
87beta-Alanine metabolism_Homo sapiens_hsa004100.56696789
88Endometrial cancer_Homo sapiens_hsa052130.56298864
89African trypanosomiasis_Homo sapiens_hsa051430.55045496
90Cardiac muscle contraction_Homo sapiens_hsa042600.55004501
91Protein digestion and absorption_Homo sapiens_hsa049740.52961127
92Thyroid hormone synthesis_Homo sapiens_hsa049180.52645192
93Glucagon signaling pathway_Homo sapiens_hsa049220.52159093
94Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.51636202
95Carbohydrate digestion and absorption_Homo sapiens_hsa049730.51596065
96ECM-receptor interaction_Homo sapiens_hsa045120.50939976
97Complement and coagulation cascades_Homo sapiens_hsa046100.50850919
98Non-small cell lung cancer_Homo sapiens_hsa052230.49580439
99Glycerophospholipid metabolism_Homo sapiens_hsa005640.49185294
100Vibrio cholerae infection_Homo sapiens_hsa051100.48063828
101Bile secretion_Homo sapiens_hsa049760.48007754
102Adherens junction_Homo sapiens_hsa045200.47770784
103Platelet activation_Homo sapiens_hsa046110.47710655
104Chemokine signaling pathway_Homo sapiens_hsa040620.45626808
105Longevity regulating pathway - mammal_Homo sapiens_hsa042110.45071807
106Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.44199260
107Mineral absorption_Homo sapiens_hsa049780.42074335
108Regulation of actin cytoskeleton_Homo sapiens_hsa048100.41871585
109Tight junction_Homo sapiens_hsa045300.41672899
110Focal adhesion_Homo sapiens_hsa045100.41019358
111Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.39021846
112PPAR signaling pathway_Homo sapiens_hsa033200.38189375
113Fatty acid biosynthesis_Homo sapiens_hsa000610.36954817
114Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.36826903
115Insulin signaling pathway_Homo sapiens_hsa049100.36768835
116Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.36427963
117Prion diseases_Homo sapiens_hsa050200.36058680
118Hippo signaling pathway_Homo sapiens_hsa043900.35090670
119Wnt signaling pathway_Homo sapiens_hsa043100.34478655
120AMPK signaling pathway_Homo sapiens_hsa041520.33035281
121HIF-1 signaling pathway_Homo sapiens_hsa040660.32215635

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