AKAP6

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 A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is highly expressed in various brain regions and cardiac and skeletal muscle. It is specifically localized to the sarcoplasmic reticulum and nuclear membrane, and is involved in anchoring PKA to the nuclear membrane or sarcoplasmic reticulum. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)5.44561867
2synaptic vesicle maturation (GO:0016188)5.03455990
3locomotory exploration behavior (GO:0035641)4.87713925
4vocalization behavior (GO:0071625)4.85958334
5positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.77422507
6positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.72478386
7synaptic vesicle exocytosis (GO:0016079)4.69257414
8regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.55803321
9glutamate secretion (GO:0014047)4.44541717
10membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.38680940
11regulation of synaptic vesicle exocytosis (GO:2000300)4.35976420
12regulation of glutamate receptor signaling pathway (GO:1900449)4.31959861
13neuron cell-cell adhesion (GO:0007158)4.26257206
14protein localization to synapse (GO:0035418)4.24946137
15synaptic vesicle docking involved in exocytosis (GO:0016081)4.21773615
16regulation of synapse structural plasticity (GO:0051823)4.21065274
17neuronal action potential propagation (GO:0019227)4.19048598
18cell communication by electrical coupling involved in cardiac conduction (GO:0086064)4.14618020
19sarcoplasmic reticulum calcium ion transport (GO:0070296)4.13381500
20presynaptic membrane organization (GO:0097090)4.09730734
21ionotropic glutamate receptor signaling pathway (GO:0035235)4.06257743
22regulation of synaptic vesicle transport (GO:1902803)3.93844193
23regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.92250142
24exploration behavior (GO:0035640)3.92142684
25neurotransmitter secretion (GO:0007269)3.90429110
26cell communication by electrical coupling (GO:0010644)3.87547458
27layer formation in cerebral cortex (GO:0021819)3.82362743
28regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.76121736
29regulation of neuronal synaptic plasticity (GO:0048168)3.75745019
30regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.75495574
31regulation of long-term neuronal synaptic plasticity (GO:0048169)3.69793169
32synaptic transmission, glutamatergic (GO:0035249)3.68740667
33glutamate receptor signaling pathway (GO:0007215)3.67879033
34neurotransmitter-gated ion channel clustering (GO:0072578)3.66722251
35proline transport (GO:0015824)3.61947131
36neuron-neuron synaptic transmission (GO:0007270)3.60807739
37pyrimidine nucleobase catabolic process (GO:0006208)3.58388270
38membrane depolarization during action potential (GO:0086010)3.57960098
39cellular potassium ion homeostasis (GO:0030007)3.56313443
40activation of protein kinase A activity (GO:0034199)3.53048352
41gamma-aminobutyric acid transport (GO:0015812)3.51255456
42cerebellar Purkinje cell differentiation (GO:0021702)3.48857109
43regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.47801290
44regulation of relaxation of muscle (GO:1901077)3.45235465
45regulation of actin filament-based movement (GO:1903115)3.44238127
46cell communication involved in cardiac conduction (GO:0086065)3.43529773
47dendritic spine morphogenesis (GO:0060997)3.43510331
48regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.42589402
49establishment of mitochondrion localization (GO:0051654)3.41206332
50sodium ion export (GO:0071436)3.40505449
51neuronal ion channel clustering (GO:0045161)3.40191861
52neuromuscular synaptic transmission (GO:0007274)3.39360857
53neuron recognition (GO:0008038)3.38045920
54regulation of excitatory postsynaptic membrane potential (GO:0060079)3.37021365
55central nervous system myelination (GO:0022010)3.35741366
56axon ensheathment in central nervous system (GO:0032291)3.35741366
57long-term memory (GO:0007616)3.34496345
58actin-myosin filament sliding (GO:0033275)3.26589164
59muscle filament sliding (GO:0030049)3.26589164
60regulation of postsynaptic membrane potential (GO:0060078)3.26561359
61cell migration in hindbrain (GO:0021535)3.22635128
62* positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)3.20069333
63neurotransmitter transport (GO:0006836)3.19946123
64cerebellar granule cell differentiation (GO:0021707)3.19740987
65cardiac muscle contraction (GO:0060048)3.18730881
66axonal fasciculation (GO:0007413)3.17744554
67positive regulation of membrane potential (GO:0045838)3.16872954
68detection of calcium ion (GO:0005513)3.14656802
69positive regulation of synapse maturation (GO:0090129)3.13911229
70* regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)3.13748594
71* regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)3.13645807
72dendrite morphogenesis (GO:0048813)3.11953285
73* positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.11753862
74response to inactivity (GO:0014854)3.10072157
75regulation of synaptic transmission, glutamatergic (GO:0051966)3.09204131
76transmission of nerve impulse (GO:0019226)3.08588858
77regulation of dendritic spine morphogenesis (GO:0061001)3.08197023
78regulation of cell communication by electrical coupling (GO:0010649)3.06919655
79neuromuscular process controlling balance (GO:0050885)3.06883110
80regulation of cardiac muscle cell contraction (GO:0086004)3.06741470
81membrane depolarization (GO:0051899)3.06122743
82regulation of synaptic plasticity (GO:0048167)3.05216798
83neuromuscular process controlling posture (GO:0050884)3.04237033
84startle response (GO:0001964)3.03681452
85nucleobase catabolic process (GO:0046113)3.03388860
86regulation of neurotransmitter secretion (GO:0046928)3.01904471
87positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.00469656
88postsynaptic membrane organization (GO:0001941)2.99201143
89innervation (GO:0060384)2.99166831
90prepulse inhibition (GO:0060134)2.98674398
91striated muscle contraction (GO:0006941)2.97438865
92myofibril assembly (GO:0030239)2.96774429
93striatum development (GO:0021756)2.96725480
94vesicle transport along microtubule (GO:0047496)2.95795861
95positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.95371162
96membrane hyperpolarization (GO:0060081)2.95236969
97regulation of neurotransmitter levels (GO:0001505)2.94906261
98synaptic vesicle endocytosis (GO:0048488)2.94687207
99gamma-aminobutyric acid signaling pathway (GO:0007214)2.94503667
100cardiac myofibril assembly (GO:0055003)2.94008289
101cellular sodium ion homeostasis (GO:0006883)2.93290847
102regulation of voltage-gated calcium channel activity (GO:1901385)2.92624560
103response to auditory stimulus (GO:0010996)2.91838036
104auditory behavior (GO:0031223)2.91370423
105G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.91263711
106positive regulation of synaptic transmission, GABAergic (GO:0032230)2.91054381
107negative regulation of potassium ion transmembrane transporter activity (GO:1901017)2.90370339
108regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)2.88014224
109sarcomere organization (GO:0045214)2.87746445
110* positive regulation of potassium ion transmembrane transport (GO:1901381)2.87430495
111establishment of mitochondrion localization, microtubule-mediated (GO:0034643)2.87335381
112mitochondrion transport along microtubule (GO:0047497)2.87335381
113potassium ion import (GO:0010107)2.87022678
114organelle transport along microtubule (GO:0072384)2.86680060
115negative regulation of synaptic transmission, GABAergic (GO:0032229)2.86396862
116long-term synaptic potentiation (GO:0060291)2.85580872
117central nervous system projection neuron axonogenesis (GO:0021952)2.85454157
118* regulation of calcium ion transmembrane transporter activity (GO:1901019)2.84980339
119* regulation of calcium ion transmembrane transport (GO:1903169)2.84980339
120synapse assembly (GO:0007416)2.84743716
121regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.84100925
122negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.83933016
123neuronal action potential (GO:0019228)2.83415175
124presynaptic membrane assembly (GO:0097105)2.83223280
125negative regulation of potassium ion transmembrane transport (GO:1901380)2.82758672
126* regulation of membrane repolarization (GO:0060306)2.82025688
127negative regulation of cytosolic calcium ion concentration (GO:0051481)2.81413906
128G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.81380109
129response to stimulus involved in regulation of muscle adaptation (GO:0014874)2.79275082
130adult walking behavior (GO:0007628)2.78861822
131C4-dicarboxylate transport (GO:0015740)2.74014957
132cardiac muscle hypertrophy (GO:0003300)2.70660895

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.00026941
2GBX2_23144817_ChIP-Seq_PC3_Human3.58656617
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.01462446
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.96768428
5JARID2_20064375_ChIP-Seq_MESCs_Mouse2.88585836
6EZH2_18974828_ChIP-Seq_MESCs_Mouse2.58582976
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.58582976
8REST_21632747_ChIP-Seq_MESCs_Mouse2.52389912
9JARID2_20075857_ChIP-Seq_MESCs_Mouse2.48203804
10DROSHA_22980978_ChIP-Seq_HELA_Human2.47920225
11SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.43076437
12EZH2_27304074_Chip-Seq_ESCs_Mouse2.42389719
13MTF2_20144788_ChIP-Seq_MESCs_Mouse2.41978156
14SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.38999672
15SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.37212356
16RARB_27405468_Chip-Seq_BRAIN_Mouse2.37173876
17SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.33911272
18EZH2_27294783_Chip-Seq_ESCs_Mouse2.14484951
19EED_16625203_ChIP-ChIP_MESCs_Mouse2.12707352
20SUZ12_27294783_Chip-Seq_ESCs_Mouse2.09244031
21REST_18959480_ChIP-ChIP_MESCs_Mouse2.08358210
22RNF2_27304074_Chip-Seq_ESCs_Mouse2.05672474
23ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.94785727
24CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.88077116
25AR_21572438_ChIP-Seq_LNCaP_Human1.79892200
26GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.78450098
27MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.77797849
28TAF15_26573619_Chip-Seq_HEK293_Human1.76298472
29CTBP2_25329375_ChIP-Seq_LNCAP_Human1.73544950
30* SMAD4_21799915_ChIP-Seq_A2780_Human1.71923401
31NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.71207287
32EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.64054781
33* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.62958766
34CTBP1_25329375_ChIP-Seq_LNCAP_Human1.61793740
35IKZF1_21737484_ChIP-ChIP_HCT116_Human1.56356197
36PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.54529775
37RBPJ_22232070_ChIP-Seq_NCS_Mouse1.53839425
38VDR_22108803_ChIP-Seq_LS180_Human1.51091840
39NR3C1_23031785_ChIP-Seq_PC12_Mouse1.44961310
40ZNF274_21170338_ChIP-Seq_K562_Hela1.44881765
41ZFP57_27257070_Chip-Seq_ESCs_Mouse1.43695755
42* SOX2_21211035_ChIP-Seq_LN229_Gbm1.40032936
43* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.37419990
44SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.36405878
45ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.34731329
46* P300_19829295_ChIP-Seq_ESCs_Human1.32861811
47RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.31706338
48ERG_21242973_ChIP-ChIP_JURKAT_Human1.30798236
49FUS_26573619_Chip-Seq_HEK293_Human1.29723863
50SMAD3_21741376_ChIP-Seq_EPCs_Human1.29225473
51PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.28267842
52* CDX2_19796622_ChIP-Seq_MESCs_Mouse1.27747979
53* STAT3_23295773_ChIP-Seq_U87_Human1.26353508
54RING1B_27294783_Chip-Seq_ESCs_Mouse1.25573056
55AR_25329375_ChIP-Seq_VCAP_Human1.25151305
56AR_19668381_ChIP-Seq_PC3_Human1.24265804
57GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.23872376
58* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.22520584
59* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.20944551
60CBX2_27304074_Chip-Seq_ESCs_Mouse1.20597546
61SMAD_19615063_ChIP-ChIP_OVARY_Human1.20080741
62RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.20021828
63* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.19864048
64TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.18929192
65* EP300_21415370_ChIP-Seq_HL-1_Mouse1.17940964
66AHR_22903824_ChIP-Seq_MCF-7_Human1.17766184
67TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.17223437
68ARNT_22903824_ChIP-Seq_MCF-7_Human1.16391569
69RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.15438987
70* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.15062653
71* LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.14156916
72* PIAS1_25552417_ChIP-Seq_VCAP_Human1.13502546
73TCF4_23295773_ChIP-Seq_U87_Human1.13213156
74PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.13083364
75TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.11918827
76IGF1R_20145208_ChIP-Seq_DFB_Human1.11834711
77BMI1_23680149_ChIP-Seq_NPCS_Mouse1.10086150
78NANOG_18555785_Chip-Seq_ESCs_Mouse1.09605304
79* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.08931095
80YAP1_20516196_ChIP-Seq_MESCs_Mouse1.07535589
81DNAJC2_21179169_ChIP-ChIP_NT2_Human1.06847333
82POU3F2_20337985_ChIP-ChIP_501MEL_Human1.06365244
83* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.06257456
84P53_22127205_ChIP-Seq_FIBROBLAST_Human1.04996849
85* CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.03495854
86TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.03101442
87ER_23166858_ChIP-Seq_MCF-7_Human1.02329952
88MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.02117813
89RING1B_27294783_Chip-Seq_NPCs_Mouse1.00531502
90SMAD4_21741376_ChIP-Seq_HESCs_Human0.99446389
91NR3C1_21868756_ChIP-Seq_MCF10A_Human0.98748755
92FLI1_27457419_Chip-Seq_LIVER_Mouse0.98124269
93CBP_20019798_ChIP-Seq_JUKART_Human0.98036182
94IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.98036182
95KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.97956269
96UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.97162038
97KDM2B_26808549_Chip-Seq_K562_Human0.96808733
98RUNX2_22187159_ChIP-Seq_PCA_Human0.96693211
99* KDM2B_26808549_Chip-Seq_REH_Human0.96659906
100P53_22387025_ChIP-Seq_ESCs_Mouse0.95968704
101TP53_16413492_ChIP-PET_HCT116_Human0.95561580
102PRDM14_20953172_ChIP-Seq_ESCs_Human0.95009761
103* SOX9_26525672_Chip-Seq_HEART_Mouse0.94927776
104EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.94863564
105SMAD3_21741376_ChIP-Seq_ESCs_Human0.93255940
106WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.93232985
107* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.92849903
108* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.92512673
109BCAT_22108803_ChIP-Seq_LS180_Human0.92456655
110RNF2_27304074_Chip-Seq_NSC_Mouse0.92011647
111* TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.91556491
112SMAD3_21741376_ChIP-Seq_HESCs_Human0.91134159
113CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.91075703
114ZFP281_18757296_ChIP-ChIP_E14_Mouse0.90406074
115VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.89649679
116TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.88661072
117POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.88661072
118RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.88009708

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.55693123
2MP0003880_abnormal_central_pattern4.18754575
3MP0004270_analgesia3.73273731
4MP0003635_abnormal_synaptic_transmissio3.69167583
5MP0009745_abnormal_behavioral_response3.05998809
6MP0002063_abnormal_learning/memory/cond2.93945178
7MP0009046_muscle_twitch2.93437145
8MP0001968_abnormal_touch/_nociception2.90086856
9MP0002822_catalepsy2.87996501
10MP0002064_seizures2.82462721
11MP0002734_abnormal_mechanical_nocicepti2.62202258
12MP0002837_dystrophic_cardiac_calcinosis2.59855929
13MP0005423_abnormal_somatic_nervous2.57275771
14MP0002735_abnormal_chemical_nociception2.53154505
15MP0002572_abnormal_emotion/affect_behav2.49383107
16MP0000751_myopathy2.46350544
17MP0002272_abnormal_nervous_system2.44015848
18MP0001486_abnormal_startle_reflex2.30365786
19MP0002736_abnormal_nociception_after2.15140332
20MP0004215_abnormal_myocardial_fiber2.04460862
21MP0002733_abnormal_thermal_nociception1.99564840
22MP0004858_abnormal_nervous_system1.96659082
23MP0001440_abnormal_grooming_behavior1.92530303
24MP0001501_abnormal_sleep_pattern1.92294865
25MP0002067_abnormal_sensory_capabilities1.92233514
26MP0001970_abnormal_pain_threshold1.91922874
27MP0006276_abnormal_autonomic_nervous1.86421458
28MP0003646_muscle_fatigue1.85648604
29MP0002184_abnormal_innervation1.80754629
30MP0005386_behavior/neurological_phenoty1.79419778
31MP0004924_abnormal_behavior1.79419778
32MP0008569_lethality_at_weaning1.77093680
33MP0009780_abnormal_chondrocyte_physiolo1.75191910
34MP0002909_abnormal_adrenal_gland1.73796345
35MP0000778_abnormal_nervous_system1.71373657
36MP0004145_abnormal_muscle_electrophysio1.69387731
37MP0004811_abnormal_neuron_physiology1.65534131
38MP0003329_amyloid_beta_deposits1.62417687
39MP0002557_abnormal_social/conspecific_i1.54377033
40MP0004084_abnormal_cardiac_muscle1.52833256
41MP0001984_abnormal_olfaction1.50855550
42MP0000955_abnormal_spinal_cord1.45995709
43MP0003137_abnormal_impulse_conducting1.45012752
44MP0005646_abnormal_pituitary_gland1.44706147
45MP0002638_abnormal_pupillary_reflex1.44458133
46MP0001529_abnormal_vocalization1.43464429
47MP0004036_abnormal_muscle_relaxation1.42935589
48MP0004085_abnormal_heartbeat1.40954338
49MP0002882_abnormal_neuron_morphology1.34415945
50MP0002066_abnormal_motor_capabilities/c1.32745157
51MP0003633_abnormal_nervous_system1.27628413
52MP0003879_abnormal_hair_cell1.27476663
53MP0000749_muscle_degeneration1.25769572
54MP0004484_altered_response_of1.25740914
55MP0004142_abnormal_muscle_tone1.20556094
56MP0005645_abnormal_hypothalamus_physiol1.19649822
57MP0003122_maternal_imprinting1.12800055
58MP0004885_abnormal_endolymph1.12290817
59MP0005620_abnormal_muscle_contractility1.11554872
60MP0004233_abnormal_muscle_weight1.09979848
61MP0003787_abnormal_imprinting1.09069776
62MP0001905_abnormal_dopamine_level1.07973614
63MP0002972_abnormal_cardiac_muscle1.07243269
64MP0003631_nervous_system_phenotype1.04703198
65MP0001502_abnormal_circadian_rhythm1.03252265
66MP0004510_myositis0.99607421
67MP0005330_cardiomyopathy0.99413718
68MP0002229_neurodegeneration0.98384775
69MP0000747_muscle_weakness0.98200494
70MP0004130_abnormal_muscle_cell0.98116772
71MP0002152_abnormal_brain_morphology0.96836967
72MP0002332_abnormal_exercise_endurance0.92574610
73MP0000569_abnormal_digit_pigmentation0.91602143
74MP0004087_abnormal_muscle_fiber0.90454468
75MP0005551_abnormal_eye_electrophysiolog0.90371621
76MP0008775_abnormal_heart_ventricle0.87066948
77MP0004043_abnormal_pH_regulation0.85897808
78MP0005253_abnormal_eye_physiology0.85080435
79MP0001188_hyperpigmentation0.84992027
80MP0003634_abnormal_glial_cell0.83926857
81MP0008874_decreased_physiological_sensi0.83416162
82MP0000013_abnormal_adipose_tissue0.82733979
83MP0002106_abnormal_muscle_physiology0.80109292
84MP0000631_abnormal_neuroendocrine_gland0.79822086
85MP0005535_abnormal_body_temperature0.79766792
86MP0002069_abnormal_eating/drinking_beha0.78900920
87MP0003121_genomic_imprinting0.77857957
88MP0008872_abnormal_physiological_respon0.76675030
89MP0000750_abnormal_muscle_regeneration0.76249583
90MP0001986_abnormal_taste_sensitivity0.75945647
91MP0002752_abnormal_somatic_nervous0.75420493
92MP0002269_muscular_atrophy0.74658758
93MP0002234_abnormal_pharynx_morphology0.74346492
94MP0000759_abnormal_skeletal_muscle0.73253004
95MP0000920_abnormal_myelination0.71991517
96MP0001299_abnormal_eye_distance/0.71332052
97MP0004742_abnormal_vestibular_system0.70559089
98MP0005369_muscle_phenotype0.70402412
99MP0005623_abnormal_meninges_morphology0.68825643
100MP0008961_abnormal_basal_metabolism0.68465374
101MP0001177_atelectasis0.68343437
102MP0003632_abnormal_nervous_system0.68211444
103MP0010386_abnormal_urinary_bladder0.68146611
104MP0004133_heterotaxia0.66298178
105MP0000026_abnormal_inner_ear0.65837603
106MP0001963_abnormal_hearing_physiology0.64433668
107MP0006138_congestive_heart_failure0.64422629
108MP0003690_abnormal_glial_cell0.60764156
109MP0001485_abnormal_pinna_reflex0.60644116
110MP0002090_abnormal_vision0.60410990
111MP0005187_abnormal_penis_morphology0.59518847

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)6.71179824
2Myokymia (HP:0002411)6.05664064
3Focal seizures (HP:0007359)5.11528400
4Visual hallucinations (HP:0002367)4.36335464
5Epileptic encephalopathy (HP:0200134)4.05786716
6Muscle fiber inclusion bodies (HP:0100299)4.03697768
7Nemaline bodies (HP:0003798)4.02639107
8Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)4.00134098
9Atonic seizures (HP:0010819)3.99246553
10Febrile seizures (HP:0002373)3.98966238
11Progressive cerebellar ataxia (HP:0002073)3.91298640
12Action tremor (HP:0002345)3.87182865
13Sudden death (HP:0001699)3.77863868
14Absence seizures (HP:0002121)3.62881440
15Generalized tonic-clonic seizures (HP:0002069)3.44100868
16Dialeptic seizures (HP:0011146)3.32538897
17Pheochromocytoma (HP:0002666)3.29644319
18Broad-based gait (HP:0002136)3.20467592
19Ankle clonus (HP:0011448)3.19549427
20Type 1 muscle fiber predominance (HP:0003803)3.17786194
21Muscle fiber splitting (HP:0003555)3.08679507
22Ventricular fibrillation (HP:0001663)3.07734795
23Supranuclear gaze palsy (HP:0000605)3.06299485
24Gaze-evoked nystagmus (HP:0000640)3.05124537
25Exercise-induced muscle cramps (HP:0003710)3.02936820
26Impaired vibration sensation in the lower limbs (HP:0002166)3.00577214
27Poor eye contact (HP:0000817)3.00148620
28Truncal ataxia (HP:0002078)2.98614927
29Dysdiadochokinesis (HP:0002075)2.98352186
30Prolonged QT interval (HP:0001657)2.97289148
31Depression (HP:0000716)2.96624884
32Syncope (HP:0001279)2.96623053
33Urinary bladder sphincter dysfunction (HP:0002839)2.96153973
34Insidious onset (HP:0003587)2.92316681
35Termporal pattern (HP:0011008)2.92316681
36Hyperventilation (HP:0002883)2.89178693
37Atrial fibrillation (HP:0005110)2.87785284
38Neuroendocrine neoplasm (HP:0100634)2.85676562
39Primary atrial arrhythmia (HP:0001692)2.85564569
40Bundle branch block (HP:0011710)2.84718357
41Dysmetric saccades (HP:0000641)2.82537844
42Exercise-induced myalgia (HP:0003738)2.82363377
43Abnormal social behavior (HP:0012433)2.80179602
44Impaired social interactions (HP:0000735)2.80179602
45Urinary urgency (HP:0000012)2.75303374
46Anxiety (HP:0000739)2.74193548
47Dysmetria (HP:0001310)2.69641556
48Supraventricular tachycardia (HP:0004755)2.68676618
49Abnormal EKG (HP:0003115)2.65616426
50Calf muscle hypertrophy (HP:0008981)2.62394845
51Postural instability (HP:0002172)2.61431973
52Supraventricular arrhythmia (HP:0005115)2.60255449
53Fetal akinesia sequence (HP:0001989)2.58628579
54Genetic anticipation (HP:0003743)2.55480726
55Amblyopia (HP:0000646)2.54991962
56Muscle hypertrophy of the lower extremities (HP:0008968)2.52969637
57Progressive inability to walk (HP:0002505)2.52669607
58Abnormality of the calf musculature (HP:0001430)2.48453945
59Scanning speech (HP:0002168)2.46754884
60Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.44637745
61Degeneration of the lateral corticospinal tracts (HP:0002314)2.44637745
62EMG: neuropathic changes (HP:0003445)2.43350011
63Abnormal eating behavior (HP:0100738)2.42729533
64Mutism (HP:0002300)2.42061104
65Rimmed vacuoles (HP:0003805)2.39070625
66Spastic gait (HP:0002064)2.36742782
67Abnormality of the corticospinal tract (HP:0002492)2.33650351
68Excessive salivation (HP:0003781)2.32853890
69Drooling (HP:0002307)2.32853890
70Abnormality of the left ventricular outflow tract (HP:0011103)2.32830176
71Subaortic stenosis (HP:0001682)2.32830176
72Frequent falls (HP:0002359)2.31724087
73Distal arthrogryposis (HP:0005684)2.31365611
74Myotonia (HP:0002486)2.29227092
75Abnormality of the lower motor neuron (HP:0002366)2.25141417
76Impaired smooth pursuit (HP:0007772)2.23663628
77Lower limb muscle weakness (HP:0007340)2.22008035
78Papilledema (HP:0001085)2.20550035
79Epileptiform EEG discharges (HP:0011182)2.20286259
80Lower limb amyotrophy (HP:0007210)2.15523345
81Torticollis (HP:0000473)2.14617878
82Polyphagia (HP:0002591)2.13573602
83Limb dystonia (HP:0002451)2.13525754
84Hemiparesis (HP:0001269)2.12148261
85Bradykinesia (HP:0002067)2.12060968
86EEG with generalized epileptiform discharges (HP:0011198)2.10974490
87Ventricular arrhythmia (HP:0004308)2.10567275
88Steppage gait (HP:0003376)2.09923207
89Decreased number of large peripheral myelinated nerve fibers (HP:0003387)2.09682746
90Abnormality of the foot musculature (HP:0001436)2.08980626
91Central scotoma (HP:0000603)2.06473377
92Hyporeflexia of lower limbs (HP:0002600)2.04224829
93Hemiplegia (HP:0002301)2.03093518
94Neoplasm of the peripheral nervous system (HP:0100007)2.02362004
95Hypsarrhythmia (HP:0002521)2.01197615
96Impaired vibratory sensation (HP:0002495)2.00071091
97Akinesia (HP:0002304)1.99738357
98Intention tremor (HP:0002080)1.96031953
99Abnormal atrioventricular conduction (HP:0005150)1.95796607
100Status epilepticus (HP:0002133)1.95630038
101Inability to walk (HP:0002540)1.94397678
102Focal dystonia (HP:0004373)1.93500614
103Difficulty running (HP:0009046)1.93427924
104Bradycardia (HP:0001662)1.92825101
105Rapidly progressive (HP:0003678)1.92816438
106Abnormality of ocular smooth pursuit (HP:0000617)1.92673769
107Heart block (HP:0012722)1.91066343
108Agitation (HP:0000713)1.90633729
109Foot dorsiflexor weakness (HP:0009027)1.89649347
110Morphological abnormality of the pyramidal tract (HP:0002062)1.89545606
111Stereotypic behavior (HP:0000733)1.88870381
112Diplopia (HP:0000651)1.87519071
113Abnormality of binocular vision (HP:0011514)1.87519071
114Hypoplasia of the brainstem (HP:0002365)1.86991127
115Aplasia/Hypoplasia of the brainstem (HP:0007362)1.86991127
116Cerebral inclusion bodies (HP:0100314)1.85704153
117Incomplete penetrance (HP:0003829)1.84750470
118Absent speech (HP:0001344)1.84411567
119Neurofibrillary tangles (HP:0002185)1.83939106
120EMG: myopathic abnormalities (HP:0003458)1.82682368
121Left ventricular hypertrophy (HP:0001712)1.81732165
122Megalencephaly (HP:0001355)1.79843199
123Gait imbalance (HP:0002141)1.77417228
124Ventricular tachycardia (HP:0004756)1.73583145
125Nonprogressive disorder (HP:0003680)1.73232322
126Protruding tongue (HP:0010808)1.72826578
127Spastic tetraplegia (HP:0002510)1.71811497

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.29287910
2MARK13.47785556
3EPHA43.47625272
4MAP3K93.41277815
5MAP3K43.24249998
6MINK12.67628299
7MAP2K72.56055244
8PAK62.14538420
9PHKG12.13254581
10PHKG22.13254581
11DAPK21.99549318
12MAP2K41.95984160
13NTRK21.95778525
14CASK1.92829476
15NTRK11.89432058
16KSR21.86400387
17LMTK21.85827612
18CAMKK11.73558576
19MAP3K121.69819223
20PRKD31.56761313
21KSR11.51716374
22MAPK131.47020354
23CDK51.45780194
24TNIK1.36658120
25STK381.28604243
26RIPK41.28526774
27CAMKK21.16914305
28PLK21.16871135
29DAPK11.16612913
30GRK51.16451264
31EPHA31.16350802
32LATS21.13453501
33UHMK11.12030508
34PINK11.11584730
35SGK2231.10668298
36SGK4941.10668298
37CAMK2A1.10073860
38FRK1.08773726
39PRKCG1.07562357
40PNCK1.04192490
41SGK21.03194841
42BCR1.01196733
43MAP3K21.01028781
44PAK31.00972199
45SIK21.00715050
46RET0.99244454
47WNK30.96701470
48PRPF4B0.95586490
49CDK190.95037838
50OBSCN0.94079601
51DYRK20.88040452
52DMPK0.87952313
53MAP4K20.87318412
54CAMK10.87213032
55SGK30.86558349
56TTN0.86082652
57CCNB10.85564090
58PRKCH0.84238204
59PDK30.84125859
60PDK40.84125859
61WNK10.83916119
62LIMK10.83694215
63FES0.81843334
64CAMK2D0.81115459
65STK110.80246401
66ARAF0.79578254
67MUSK0.78751079
68NEK10.78423618
69CAMK2B0.77686929
70TAOK10.76967728
71CDK180.76427576
72ERBB30.75552186
73PTK2B0.74799933
74CDC42BPA0.73271298
75CDK150.72973303
76CDK140.72152358
77TYRO30.71534574
78SGK10.70891612
79PRKG10.70500086
80CSNK1A1L0.65918910
81PRKAA10.63932478
82MARK20.63781888
83PRKCE0.62844444
84PIK3CA0.61557302
85CSNK1G20.60608314
86CDK11A0.60455997
87CAMK1G0.59773471
88PDK10.57505191
89PDPK10.57241720
90GRK70.56554990
91CAMK40.56528212
92FGFR20.55978635
93FER0.55277512
94CSNK1G30.54910788
95PRKACA0.53785782
96OXSR10.53579904
97CAMK2G0.52203945
98RPS6KA30.52202568
99DYRK1A0.50388863
100ROCK10.50115685
101MAPK150.49932452
102MAP3K70.49754076
103CSNK1G10.49017329
104ALK0.48623259
105WNK40.48291815
106MAP3K10.48278591
107ROCK20.47973031
108MAP3K130.47421463
109RAF10.47111021
110AKT30.45166748
111PRKCZ0.45138144
112MAP2K10.44886270
113RIPK10.44425555
114STK390.43791444
115RPS6KA20.43528268
116SIK30.42291995
117MAPK120.41400337
118PRKD10.41197497
119MAPK100.41037411
120INSRR0.40373307
121PKN10.40347415
122PRKACB0.40274379
123MAPK40.36290596
124CSNK1D0.34794911
125CSNK1E0.33273530
126PRKCA0.30676231

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.33945048
2Synaptic vesicle cycle_Homo sapiens_hsa047212.97823978
3Olfactory transduction_Homo sapiens_hsa047402.62265336
4Circadian entrainment_Homo sapiens_hsa047132.57016280
5GABAergic synapse_Homo sapiens_hsa047272.50861171
6Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.46636895
7Long-term potentiation_Homo sapiens_hsa047202.39455353
8Glutamatergic synapse_Homo sapiens_hsa047242.33087354
9Morphine addiction_Homo sapiens_hsa050322.32895700
10Amphetamine addiction_Homo sapiens_hsa050312.21227903
11Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.14220138
12Dopaminergic synapse_Homo sapiens_hsa047282.08102043
13Insulin secretion_Homo sapiens_hsa049111.99495307
14Salivary secretion_Homo sapiens_hsa049701.99441143
15Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.95738485
16Cholinergic synapse_Homo sapiens_hsa047251.87557192
17Taste transduction_Homo sapiens_hsa047421.82828978
18Cardiac muscle contraction_Homo sapiens_hsa042601.81404668
19Gastric acid secretion_Homo sapiens_hsa049711.78785351
20Aldosterone synthesis and secretion_Homo sapiens_hsa049251.71389522
21Renin secretion_Homo sapiens_hsa049241.67796893
22Oxytocin signaling pathway_Homo sapiens_hsa049211.65316665
23Calcium signaling pathway_Homo sapiens_hsa040201.63322523
24Serotonergic synapse_Homo sapiens_hsa047261.58610030
25Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.57397517
26Cocaine addiction_Homo sapiens_hsa050301.53085669
27Dilated cardiomyopathy_Homo sapiens_hsa054141.51765609
28Long-term depression_Homo sapiens_hsa047301.50323008
29GnRH signaling pathway_Homo sapiens_hsa049121.35889728
30Gap junction_Homo sapiens_hsa045401.32942035
31Type II diabetes mellitus_Homo sapiens_hsa049301.32216268
32Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.30522598
33cAMP signaling pathway_Homo sapiens_hsa040241.28208295
34Collecting duct acid secretion_Homo sapiens_hsa049661.27317813
35Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.20658206
36cGMP-PKG signaling pathway_Homo sapiens_hsa040221.16742538
37Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.13554509
38Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.11836599
39Axon guidance_Homo sapiens_hsa043601.09718761
40Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.08871199
41Estrogen signaling pathway_Homo sapiens_hsa049151.07197463
42Phosphatidylinositol signaling system_Homo sapiens_hsa040701.06680621
43Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.04661322
44Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.02131279
45Glioma_Homo sapiens_hsa052141.01894005
46ErbB signaling pathway_Homo sapiens_hsa040120.96681210
47Vascular smooth muscle contraction_Homo sapiens_hsa042700.96331637
48Dorso-ventral axis formation_Homo sapiens_hsa043200.94978348
49Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.92842722
50Melanogenesis_Homo sapiens_hsa049160.91835371
51Phototransduction_Homo sapiens_hsa047440.89517882
52Pancreatic secretion_Homo sapiens_hsa049720.80646282
53Alzheimers disease_Homo sapiens_hsa050100.80021749
54Oocyte meiosis_Homo sapiens_hsa041140.76451006
55Vibrio cholerae infection_Homo sapiens_hsa051100.76397239
56Phospholipase D signaling pathway_Homo sapiens_hsa040720.75814023
57Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.75276436
58Glucagon signaling pathway_Homo sapiens_hsa049220.74528510
59Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.73175425
60Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.70006477
61MAPK signaling pathway_Homo sapiens_hsa040100.69598420
62Parkinsons disease_Homo sapiens_hsa050120.68452802
63Oxidative phosphorylation_Homo sapiens_hsa001900.67173828
64Insulin signaling pathway_Homo sapiens_hsa049100.66281883
65Regulation of autophagy_Homo sapiens_hsa041400.65766724
66Thyroid hormone synthesis_Homo sapiens_hsa049180.64265664
67Neurotrophin signaling pathway_Homo sapiens_hsa047220.63551850
68Choline metabolism in cancer_Homo sapiens_hsa052310.62748950
69Thyroid hormone signaling pathway_Homo sapiens_hsa049190.62457025
70Carbohydrate digestion and absorption_Homo sapiens_hsa049730.59410315
71mTOR signaling pathway_Homo sapiens_hsa041500.56428027
72Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.56289282
73ABC transporters_Homo sapiens_hsa020100.55745312
74Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.55661203
752-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.55349230
76VEGF signaling pathway_Homo sapiens_hsa043700.54971324
77Circadian rhythm_Homo sapiens_hsa047100.53541794
78Fatty acid biosynthesis_Homo sapiens_hsa000610.53335181
79Ras signaling pathway_Homo sapiens_hsa040140.53230124
80Rap1 signaling pathway_Homo sapiens_hsa040150.51572061
81Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.50893366
82Histidine metabolism_Homo sapiens_hsa003400.49007585
83Endometrial cancer_Homo sapiens_hsa052130.48736129
84beta-Alanine metabolism_Homo sapiens_hsa004100.48053070
85Longevity regulating pathway - mammal_Homo sapiens_hsa042110.46982889
86Propanoate metabolism_Homo sapiens_hsa006400.46221103
87Arginine and proline metabolism_Homo sapiens_hsa003300.45785916
88Nitrogen metabolism_Homo sapiens_hsa009100.45600335
89AMPK signaling pathway_Homo sapiens_hsa041520.45181732
90Sphingolipid signaling pathway_Homo sapiens_hsa040710.44958746
91Inositol phosphate metabolism_Homo sapiens_hsa005620.43997223
92Bile secretion_Homo sapiens_hsa049760.43749238
93Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.43323118
94Renal cell carcinoma_Homo sapiens_hsa052110.42699299
95Alcoholism_Homo sapiens_hsa050340.41876838
96Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.41705072
97Hippo signaling pathway_Homo sapiens_hsa043900.41097201
98Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.40972449
99Endocytosis_Homo sapiens_hsa041440.39862211
100Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.39326509
101Butanoate metabolism_Homo sapiens_hsa006500.38723314
102Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.38258590
103Huntingtons disease_Homo sapiens_hsa050160.37688400
104Ovarian steroidogenesis_Homo sapiens_hsa049130.35509827
105Wnt signaling pathway_Homo sapiens_hsa043100.33570438
106Central carbon metabolism in cancer_Homo sapiens_hsa052300.33115004
107Non-small cell lung cancer_Homo sapiens_hsa052230.32817661
108Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.32019574
109Hedgehog signaling pathway_Homo sapiens_hsa043400.31572886
110Ether lipid metabolism_Homo sapiens_hsa005650.30808065
111Arginine biosynthesis_Homo sapiens_hsa002200.29659759
112Tight junction_Homo sapiens_hsa045300.29518618
113Prion diseases_Homo sapiens_hsa050200.29156750

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