NUAK1

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: No gene information available for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1plasma membrane repair (GO:0001778)4.36603614
2synaptic vesicle maturation (GO:0016188)3.86338281
3layer formation in cerebral cortex (GO:0021819)3.79168177
4dendritic spine morphogenesis (GO:0060997)3.69358063
5regulation of short-term neuronal synaptic plasticity (GO:0048172)3.51207365
6vocalization behavior (GO:0071625)3.48484246
7locomotory exploration behavior (GO:0035641)3.45836370
8regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act3.45143113
9postsynaptic membrane organization (GO:0001941)3.42447551
10neuronal ion channel clustering (GO:0045161)3.33191242
11synaptic vesicle docking involved in exocytosis (GO:0016081)3.29746260
12glutamate secretion (GO:0014047)3.25914436
13axonal fasciculation (GO:0007413)3.24423161
14positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.23064560
15dendrite morphogenesis (GO:0048813)3.20776693
16positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.15735799
17synaptic vesicle exocytosis (GO:0016079)3.14831311
18cytoskeletal anchoring at plasma membrane (GO:0007016)3.12714981
19cell migration in hindbrain (GO:0021535)3.11193449
20neuron recognition (GO:0008038)3.07050659
21regulation of synapse structural plasticity (GO:0051823)3.04942074
22establishment of nucleus localization (GO:0040023)3.03606149
23cardiac myofibril assembly (GO:0055003)3.03058196
24positive regulation of fibroblast migration (GO:0010763)2.99598302
25positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)2.97773911
26regulation of glutamate receptor signaling pathway (GO:1900449)2.95266699
27presynaptic membrane assembly (GO:0097105)2.90915082
28positive regulation of synapse maturation (GO:0090129)2.89821589
29protein localization to synapse (GO:0035418)2.88280776
30presynaptic membrane organization (GO:0097090)2.87391783
31regulation of synaptic vesicle exocytosis (GO:2000300)2.87379038
32membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.84973899
33negative regulation of dendrite morphogenesis (GO:0050774)2.73526470
34cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.72481167
35cerebellar granule cell differentiation (GO:0021707)2.72440385
36axon extension (GO:0048675)2.71409236
37dendritic spine organization (GO:0097061)2.70412373
38neuronal action potential propagation (GO:0019227)2.70303806
39cell communication by electrical coupling (GO:0010644)2.70300301
40regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO2.69808807
41neuron-neuron synaptic transmission (GO:0007270)2.67300728
42transmission of nerve impulse (GO:0019226)2.66999486
43membrane assembly (GO:0071709)2.65667892
44regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)2.65556781
45neuron cell-cell adhesion (GO:0007158)2.64449570
46chondrocyte proliferation (GO:0035988)2.64303300
47activation of protein kinase A activity (GO:0034199)2.64042466
48regulation of dendritic spine morphogenesis (GO:0061001)2.63970341
49neuromuscular process controlling balance (GO:0050885)2.63748011
50ionotropic glutamate receptor signaling pathway (GO:0035235)2.63702960
51neurotransmitter-gated ion channel clustering (GO:0072578)2.63260895
52exploration behavior (GO:0035640)2.62709807
53positive regulation of dendritic spine morphogenesis (GO:0061003)2.61212301
54neuromuscular synaptic transmission (GO:0007274)2.60843354
55positive regulation of dendritic spine development (GO:0060999)2.60723218
56regulation of neurotransmitter secretion (GO:0046928)2.58716995
57central nervous system myelination (GO:0022010)2.58571669
58axon ensheathment in central nervous system (GO:0032291)2.58571669
59regulation of synapse assembly (GO:0051963)2.57233266
60regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)2.55766072
61regulation of voltage-gated calcium channel activity (GO:1901385)2.55270387
62positive regulation of synapse assembly (GO:0051965)2.54859203
63neurotransmitter transport (GO:0006836)2.54493212
64glutamate receptor signaling pathway (GO:0007215)2.53400120
65cerebellar Purkinje cell layer development (GO:0021680)2.52473006
66myofibril assembly (GO:0030239)2.51296107
67negative regulation of catenin import into nucleus (GO:0035414)2.51116594
68amino acid import (GO:0043090)2.50852926
69central nervous system projection neuron axonogenesis (GO:0021952)2.50482692
70potassium ion homeostasis (GO:0055075)2.50144102
71stress fiber assembly (GO:0043149)2.49961664
72regulation of long-term neuronal synaptic plasticity (GO:0048169)2.49666922
73L-amino acid import (GO:0043092)2.48838150
74regulation of neuronal synaptic plasticity (GO:0048168)2.48801277
75collagen fibril organization (GO:0030199)2.48454062
76membrane depolarization during action potential (GO:0086010)2.47505471
77regulation of synaptic plasticity (GO:0048167)2.44891847
78neuromuscular junction development (GO:0007528)2.43819772
79sarcomere organization (GO:0045214)2.41345721
80regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.41268312
81regulation of axon extension involved in axon guidance (GO:0048841)2.41190183
82gamma-aminobutyric acid transport (GO:0015812)2.39351579
83response to gravity (GO:0009629)2.38696488
84positive regulation of axon extension (GO:0045773)2.38570457
85regulation of cell communication by electrical coupling (GO:0010649)2.38477284
86positive regulation of neurotransmitter transport (GO:0051590)2.38103320
87proline transport (GO:0015824)2.38051298
88neuron projection extension (GO:1990138)2.37644546
89cell communication involved in cardiac conduction (GO:0086065)2.36687986
90regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)2.36038676
91negative regulation of synaptic transmission, GABAergic (GO:0032229)2.35313869
92regulation of synaptic vesicle transport (GO:1902803)2.35221462
93sodium ion export (GO:0071436)2.35037324
94apical protein localization (GO:0045176)2.34710308
95regulation of excitatory postsynaptic membrane potential (GO:0060079)2.34445413
96peripheral nervous system axon ensheathment (GO:0032292)2.34266560
97myelination in peripheral nervous system (GO:0022011)2.34266560
98regulation of synapse organization (GO:0050807)2.33885243
99regulation of synapse maturation (GO:0090128)2.33593310
100regulation of neurotransmitter transport (GO:0051588)2.33551872
101neurotransmitter secretion (GO:0007269)2.32886202
102cerebellar Purkinje cell differentiation (GO:0021702)2.32722871
103regulation of dendritic spine development (GO:0060998)2.32123781
104synapse organization (GO:0050808)2.32097562
105detection of calcium ion (GO:0005513)2.31376910
106membrane depolarization (GO:0051899)2.31320929
107cellular potassium ion homeostasis (GO:0030007)2.31183170
108axon extension involved in axon guidance (GO:0048846)2.31060815
109neuron projection extension involved in neuron projection guidance (GO:1902284)2.31060815
110positive regulation of membrane potential (GO:0045838)2.30741532
111negative regulation of potassium ion transmembrane transporter activity (GO:1901017)2.30639727
112regulation of membrane repolarization (GO:0060306)2.30402985
113negative regulation of hormone biosynthetic process (GO:0032353)2.29988742
114regulation of vesicle fusion (GO:0031338)2.29699008
115positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.29071751
116organelle transport along microtubule (GO:0072384)2.28747447
117ephrin receptor signaling pathway (GO:0048013)2.28640990
118synaptic transmission, glutamatergic (GO:0035249)2.28410149
119lymphangiogenesis (GO:0001946)2.28177302
120vesicle transport along microtubule (GO:0047496)2.26253172
121negative regulation of protein localization to cell surface (GO:2000009)2.26105674
122regulation of neuron migration (GO:2001222)2.26060154
123regulation of axon guidance (GO:1902667)2.24997131
124protein localization to endosome (GO:0036010)2.24576855
125regulation of postsynaptic membrane potential (GO:0060078)2.24430209
126innervation (GO:0060384)2.23670818
127G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.23460591
128synaptic vesicle endocytosis (GO:0048488)2.23137791
129camera-type eye morphogenesis (GO:0048593)2.22729639
130regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)2.22141486
131cell-cell junction maintenance (GO:0045217)2.20176557
132gamma-aminobutyric acid signaling pathway (GO:0007214)2.19429370
133long-term memory (GO:0007616)2.19412771
134regulation of calcium ion transmembrane transporter activity (GO:1901019)2.19332969
135regulation of calcium ion transmembrane transport (GO:1903169)2.19332969
136insulin-like growth factor receptor signaling pathway (GO:0048009)2.18399086
137regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)2.18129692
138myoblast fusion (GO:0007520)2.17073828

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human4.12826377
2SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.82254673
3JARID2_20064375_ChIP-Seq_MESCs_Mouse2.69379730
4EZH2_18974828_ChIP-Seq_MESCs_Mouse2.66470823
5RNF2_18974828_ChIP-Seq_MESCs_Mouse2.66470823
6SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.64248974
7GBX2_23144817_ChIP-Seq_PC3_Human2.49204895
8JARID2_20075857_ChIP-Seq_MESCs_Mouse2.39447154
9EZH2_27304074_Chip-Seq_ESCs_Mouse2.39372770
10SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.37968141
11SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.37739452
12EED_16625203_ChIP-ChIP_MESCs_Mouse2.36113308
13SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.35182092
14* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.25213411
15DROSHA_22980978_ChIP-Seq_HELA_Human2.17813954
16RNF2_27304074_Chip-Seq_ESCs_Mouse2.12868867
17* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.11402477
18TRIM28_21343339_ChIP-Seq_HEK293_Human2.10964887
19EZH2_27294783_Chip-Seq_ESCs_Mouse2.07836100
20SUZ12_27294783_Chip-Seq_ESCs_Mouse1.95806173
21ZFP57_27257070_Chip-Seq_ESCs_Mouse1.83105605
22* WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.69621838
23EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.68153233
24* EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.64588600
25* EP300_21415370_ChIP-Seq_HL-1_Mouse1.63825531
26PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.63389898
27CDX2_19796622_ChIP-Seq_MESCs_Mouse1.62250513
28* RARB_27405468_Chip-Seq_BRAIN_Mouse1.61037227
29RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.53100934
30* ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.52152119
31ZNF217_24962896_ChIP-Seq_MCF-7_Human1.51952278
32AR_21572438_ChIP-Seq_LNCaP_Human1.51578176
33ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.47228414
34WT1_19549856_ChIP-ChIP_CCG9911_Human1.47163097
35SALL1_21062744_ChIP-ChIP_HESCs_Human1.46685952
36SMAD_19615063_ChIP-ChIP_OVARY_Human1.46028242
37REST_21632747_ChIP-Seq_MESCs_Mouse1.45776061
38TP53_16413492_ChIP-PET_HCT116_Human1.42644871
39TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.41462313
40* TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.39070101
41WT1_25993318_ChIP-Seq_PODOCYTE_Human1.38937360
42PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.38919804
43KDM2B_26808549_Chip-Seq_K562_Human1.36884194
44RING1B_27294783_Chip-Seq_ESCs_Mouse1.35129501
45* TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.32912770
46* RING1B_27294783_Chip-Seq_NPCs_Mouse1.30556724
47ZNF274_21170338_ChIP-Seq_K562_Hela1.30016171
48AHR_22903824_ChIP-Seq_MCF-7_Human1.30004828
49IKZF1_21737484_ChIP-ChIP_HCT116_Human1.28617605
50GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.26455523
51* ARNT_22903824_ChIP-Seq_MCF-7_Human1.26182104
52* CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.25846309
53ERG_21242973_ChIP-ChIP_JURKAT_Human1.24961417
54ZFP281_18757296_ChIP-ChIP_E14_Mouse1.24480119
55RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.24406466
56RNF2_27304074_Chip-Seq_NSC_Mouse1.23986483
57TP53_20018659_ChIP-ChIP_R1E_Mouse1.23504546
58MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.22999678
59NR3C1_23031785_ChIP-Seq_PC12_Mouse1.22562599
60* TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.22141200
61SMAD4_21799915_ChIP-Seq_A2780_Human1.21887928
62TAF15_26573619_Chip-Seq_HEK293_Human1.21874959
63CTBP2_25329375_ChIP-Seq_LNCAP_Human1.21401133
64SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.20179412
65SOX2_21211035_ChIP-Seq_LN229_Gbm1.17418412
66CBX2_27304074_Chip-Seq_ESCs_Mouse1.16550464
67REST_18959480_ChIP-ChIP_MESCs_Mouse1.16405654
68RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.15774089
69SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.15766611
70SMAD3_21741376_ChIP-Seq_EPCs_Human1.15040592
71SOX9_26525672_Chip-Seq_HEART_Mouse1.13931215
72PIAS1_25552417_ChIP-Seq_VCAP_Human1.13328018
73TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.12620246
74* TP53_18474530_ChIP-ChIP_U2OS_Human1.12216563
75STAT6_21828071_ChIP-Seq_BEAS2B_Human1.11620504
76STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.10912903
77VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.09824517
78AR_19668381_ChIP-Seq_PC3_Human1.09634223
79NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.09576663
80* SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.09370309
81MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.09357670
82* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.09291657
83CTBP1_25329375_ChIP-Seq_LNCAP_Human1.09196958
84* LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.09158554
85* ZFP281_27345836_Chip-Seq_ESCs_Mouse1.08290794
86CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.07636827
87* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.07630862
88SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.07169403
89KDM2B_26808549_Chip-Seq_SUP-B15_Human1.07003667
90* TBX3_20139965_ChIP-Seq_MESCs_Mouse1.06798363
91RBPJ_22232070_ChIP-Seq_NCS_Mouse1.06534554
92* SMAD4_21741376_ChIP-Seq_HESCs_Human1.05769479
93* TBX3_20139965_ChIP-Seq_ESCs_Mouse1.05515009
94* ESR2_21235772_ChIP-Seq_MCF-7_Human1.05333288
95* SMAD3_21741376_ChIP-Seq_HESCs_Human1.05066651
96* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.04258627
97RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.03949651
98CJUN_26792858_Chip-Seq_BT549_Human1.03419358
99* ISL1_27105846_Chip-Seq_CPCs_Mouse1.02855003
100FUS_26573619_Chip-Seq_HEK293_Human1.00153594
101RARG_19884340_ChIP-ChIP_MEFs_Mouse0.99786872
102DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.99773472
103YAP1_20516196_ChIP-Seq_MESCs_Mouse0.98765662
104ESR1_20079471_ChIP-ChIP_T-47D_Human0.97998810
105* NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.97946248
106* NRF2_20460467_ChIP-Seq_MEFs_Mouse0.97946248
107KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.97539399
108TOP2B_26459242_ChIP-Seq_MCF-7_Human0.96386538
109KDM2B_26808549_Chip-Seq_REH_Human0.96252051
110* OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.95750573
111* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.95494089
112TP63_17297297_ChIP-ChIP_HaCaT_Human0.95455646
113PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.93954958
114P300_19829295_ChIP-Seq_ESCs_Human0.91617221
115TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.91338278
116* TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.90321999
117* SOX9_24532713_ChIP-Seq_HFSC_Mouse0.90237844
118STAT3_23295773_ChIP-Seq_U87_Human0.88875855
119CTNNB1_20460455_ChIP-Seq_HCT116_Human0.88613899
120AR_25329375_ChIP-Seq_VCAP_Human0.86817002
121NR3C1_21868756_ChIP-Seq_MCF10A_Human0.86446783
122* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.86387553

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity4.22933433
2MP0008438_abnormal_cutaneous_collagen3.17943976
3MP0005623_abnormal_meninges_morphology2.98155009
4MP0004270_analgesia2.90086349
5MP0000751_myopathy2.53553766
6MP0003635_abnormal_synaptic_transmissio2.52576340
7MP0002837_dystrophic_cardiac_calcinosis2.17637620
8MP0003880_abnormal_central_pattern2.17578300
9MP0005275_abnormal_skin_tensile2.17547809
10MP0009780_abnormal_chondrocyte_physiolo1.98633927
11MP0002063_abnormal_learning/memory/cond1.89080996
12MP0005503_abnormal_tendon_morphology1.87788739
13MP0004145_abnormal_muscle_electrophysio1.84716589
14MP0002064_seizures1.79390518
15MP0000778_abnormal_nervous_system1.79191560
16MP0009745_abnormal_behavioral_response1.72464391
17MP0003279_aneurysm1.71704775
18MP0003705_abnormal_hypodermis_morpholog1.71059085
19MP0009046_muscle_twitch1.68568083
20MP0004084_abnormal_cardiac_muscle1.67988173
21MP0002734_abnormal_mechanical_nocicepti1.67723835
22MP0001968_abnormal_touch/_nociception1.63294366
23MP0003283_abnormal_digestive_organ1.63223085
24MP0001299_abnormal_eye_distance/1.63007658
25MP0004858_abnormal_nervous_system1.53375777
26MP0010368_abnormal_lymphatic_system1.51204439
27MP0002572_abnormal_emotion/affect_behav1.49228877
28MP0001486_abnormal_startle_reflex1.47894708
29MP0002184_abnormal_innervation1.45376957
30MP0000013_abnormal_adipose_tissue1.39833506
31MP0004215_abnormal_myocardial_fiber1.39351589
32MP0002272_abnormal_nervous_system1.39316434
33MP0003329_amyloid_beta_deposits1.37193273
34MP0001348_abnormal_lacrimal_gland1.36320822
35MP0000749_muscle_degeneration1.36017296
36MP0004233_abnormal_muscle_weight1.35737970
37MP0002736_abnormal_nociception_after1.33724746
38MP0004272_abnormal_basement_membrane1.33565658
39MP0000747_muscle_weakness1.32392559
40MP0003137_abnormal_impulse_conducting1.29993366
41MP0004087_abnormal_muscle_fiber1.29676566
42MP0004036_abnormal_muscle_relaxation1.28832677
43MP0005423_abnormal_somatic_nervous1.27377906
44MP0001440_abnormal_grooming_behavior1.26867231
45MP0009384_cardiac_valve_regurgitation1.24053892
46MP0004484_altered_response_of1.23851051
47MP0004811_abnormal_neuron_physiology1.22626567
48MP0002234_abnormal_pharynx_morphology1.22523510
49MP0002108_abnormal_muscle_morphology1.20924411
50MP0001958_emphysema1.20397775
51MP0003091_abnormal_cell_migration1.18925492
52MP0008569_lethality_at_weaning1.18721929
53MP0000955_abnormal_spinal_cord1.18079824
54* MP0003385_abnormal_body_wall1.17341153
55MP0005620_abnormal_muscle_contractility1.17117512
56MP0006276_abnormal_autonomic_nervous1.16887886
57MP0002735_abnormal_chemical_nociception1.16525023
58MP0005330_cardiomyopathy1.15540332
59MP0002972_abnormal_cardiac_muscle1.14433490
60MP0004085_abnormal_heartbeat1.13233468
61MP0002067_abnormal_sensory_capabilities1.12526780
62MP0003566_abnormal_cell_adhesion1.10066193
63MP0002295_abnormal_pulmonary_circulatio1.09501917
64MP0003941_abnormal_skin_development1.09448994
65MP0009250_abnormal_appendicular_skeleto1.09262782
66MP0003890_abnormal_embryonic-extraembry1.08954087
67MP0003787_abnormal_imprinting1.07425227
68MP0000733_abnormal_muscle_development1.06152001
69MP0000759_abnormal_skeletal_muscle1.05950919
70MP0003123_paternal_imprinting1.05919766
71MP0006138_congestive_heart_failure1.05189545
72MP0000579_abnormal_nail_morphology1.04427726
73MP0002896_abnormal_bone_mineralization1.04417125
74MP0003045_fibrosis1.04299092
75MP0002882_abnormal_neuron_morphology1.03384849
76MP0002557_abnormal_social/conspecific_i0.99556884
77MP0001970_abnormal_pain_threshold0.99287833
78MP0000537_abnormal_urethra_morphology0.99012240
79MP0003119_abnormal_digestive_system0.97562671
80MP0000566_synostosis0.97240816
81MP0002733_abnormal_thermal_nociception0.96875145
82MP0003634_abnormal_glial_cell0.96342686
83MP0004885_abnormal_endolymph0.95380903
84MP0001984_abnormal_olfaction0.94877038
85MP0000534_abnormal_ureter_morphology0.94626872
86MP0000750_abnormal_muscle_regeneration0.93471008
87MP0001501_abnormal_sleep_pattern0.92801666
88MP0005369_muscle_phenotype0.92117944
89MP0002066_abnormal_motor_capabilities/c0.91863841
90MP0001879_abnormal_lymphatic_vessel0.91693217
91MP0002152_abnormal_brain_morphology0.91262980
92MP0000920_abnormal_myelination0.90964262
93MP0005508_abnormal_skeleton_morphology0.89972215
94MP0003861_abnormal_nervous_system0.89665118
95MP0002909_abnormal_adrenal_gland0.87902910
96MP0000762_abnormal_tongue_morphology0.87248660
97MP0001346_abnormal_lacrimal_gland0.86734939
98MP0003950_abnormal_plasma_membrane0.86704634
99MP0003937_abnormal_limbs/digits/tail_de0.84763159
100MP0001529_abnormal_vocalization0.84674280
101MP0003879_abnormal_hair_cell0.84519558
102MP0001177_atelectasis0.84332525
103MP0005386_behavior/neurological_phenoty0.84237860
104MP0004924_abnormal_behavior0.84237860
105MP0002106_abnormal_muscle_physiology0.84158427
106MP0003755_abnormal_palate_morphology0.84101512
107MP0004133_heterotaxia0.83113610
108MP0003122_maternal_imprinting0.82878855
109MP0003633_abnormal_nervous_system0.82868394
110MP0000003_abnormal_adipose_tissue0.82241330
111MP0005187_abnormal_penis_morphology0.80991376
112MP0000462_abnormal_digestive_system0.80887343
113MP0010030_abnormal_orbit_morphology0.80777464
114MP0003942_abnormal_urinary_system0.80668617
115MP0002233_abnormal_nose_morphology0.80484051
116MP0010630_abnormal_cardiac_muscle0.80168324
117MP0008775_abnormal_heart_ventricle0.78966418
118MP0004185_abnormal_adipocyte_glucose0.76496083
119MP0003631_nervous_system_phenotype0.75996666
120MP0001502_abnormal_circadian_rhythm0.75782728
121MP0003935_abnormal_craniofacial_develop0.74769664
122MP0002269_muscular_atrophy0.74291609
123MP0009053_abnormal_anal_canal0.74258598
124MP0004134_abnormal_chest_morphology0.73589869
125MP0000767_abnormal_smooth_muscle0.73270561
126MP0010386_abnormal_urinary_bladder0.73163598
127MP0000428_abnormal_craniofacial_morphol0.71981260

Predicted human phenotypes

RankGene SetZ-score
1Premature rupture of membranes (HP:0001788)4.36067450
2Shallow orbits (HP:0000586)3.83036031
3Protrusio acetabuli (HP:0003179)3.69806107
4Cerebral aneurysm (HP:0004944)3.02337297
5Hyporeflexia of lower limbs (HP:0002600)3.00069676
6Focal motor seizures (HP:0011153)2.94025069
7Sudden death (HP:0001699)2.85666178
8Myokymia (HP:0002411)2.84612165
9Muscle fiber splitting (HP:0003555)2.80362094
10Atrophic scars (HP:0001075)2.77843242
11Focal seizures (HP:0007359)2.77378130
12Aortic dissection (HP:0002647)2.75305604
13Broad metatarsal (HP:0001783)2.67444920
14Difficulty running (HP:0009046)2.65036897
15Bladder diverticulum (HP:0000015)2.60548458
16Vascular tortuosity (HP:0004948)2.60539852
17Increased variability in muscle fiber diameter (HP:0003557)2.59532899
18Lower limb amyotrophy (HP:0007210)2.55636088
19Abnormality of the calf musculature (HP:0001430)2.53782105
20Action tremor (HP:0002345)2.47672805
21Arterial tortuosity (HP:0005116)2.42655880
22Buphthalmos (HP:0000557)2.40736238
23Type 1 muscle fiber predominance (HP:0003803)2.39382733
24Scapular winging (HP:0003691)2.35293122
25Fragile skin (HP:0001030)2.34344555
26Round ear (HP:0100830)2.32255000
27Mitral valve prolapse (HP:0001634)2.31179663
28Visual hallucinations (HP:0002367)2.30828548
29Dilatation of the ascending aorta (HP:0005111)2.29774345
30Atonic seizures (HP:0010819)2.28052443
31Distal lower limb amyotrophy (HP:0008944)2.26282630
32Abnormality of the lower motor neuron (HP:0002366)2.23985593
33Supranuclear gaze palsy (HP:0000605)2.23063824
34Epileptic encephalopathy (HP:0200134)2.22809703
35Difficulty climbing stairs (HP:0003551)2.20609907
36Termporal pattern (HP:0011008)2.18695841
37Insidious onset (HP:0003587)2.18695841
38Limb dystonia (HP:0002451)2.18623147
39Abnormality of skeletal muscle fiber size (HP:0012084)2.16653457
40Aortic aneurysm (HP:0004942)2.16084488
41Overgrowth (HP:0001548)2.14981114
42Genu recurvatum (HP:0002816)2.14507118
43Cerebral inclusion bodies (HP:0100314)2.14334546
44EMG: myopathic abnormalities (HP:0003458)2.13848893
45Soft skin (HP:0000977)2.11692743
46Exercise-induced myalgia (HP:0003738)2.10538845
47Calf muscle hypertrophy (HP:0008981)2.07883124
48Atrial fibrillation (HP:0005110)2.07738206
49Mutism (HP:0002300)2.05717900
50Drooling (HP:0002307)2.04670578
51Bowel diverticulosis (HP:0005222)2.04357047
52Primary atrial arrhythmia (HP:0001692)2.03299125
53Akinesia (HP:0002304)2.02692318
54Increased connective tissue (HP:0009025)2.02585331
55Abnormality of dentin (HP:0010299)2.02291242
56Muscle hypertrophy of the lower extremities (HP:0008968)2.01526279
57Progressive cerebellar ataxia (HP:0002073)2.00913727
58Hyperextensible skin (HP:0000974)2.00821704
59Achilles tendon contracture (HP:0001771)2.00297616
60Aplasia involving bones of the upper limbs (HP:0009823)1.99578683
61Aplasia of the phalanges of the hand (HP:0009802)1.99578683
62Aplasia involving bones of the extremities (HP:0009825)1.99578683
63Right ventricular cardiomyopathy (HP:0011663)1.98677416
64Rapidly progressive (HP:0003678)1.98587060
65Obstructive sleep apnea (HP:0002870)1.98294742
66Peritonitis (HP:0002586)1.97665957
67Spinal rigidity (HP:0003306)1.96707963
68Neurofibrillary tangles (HP:0002185)1.94523769
69Mildly elevated creatine phosphokinase (HP:0008180)1.94159300
70Bronchomalacia (HP:0002780)1.92964471
71Epileptiform EEG discharges (HP:0011182)1.92282483
72Bundle branch block (HP:0011710)1.90525631
73Torticollis (HP:0000473)1.90422106
74Limited hip movement (HP:0008800)1.89996098
75Myotonia (HP:0002486)1.88488074
76Popliteal pterygium (HP:0009756)1.88338112
77Supraventricular arrhythmia (HP:0005115)1.87983337
78Absence seizures (HP:0002121)1.87969073
79Wrist flexion contracture (HP:0001239)1.87556367
80Prolonged QT interval (HP:0001657)1.86629240
81Ankle clonus (HP:0011448)1.85774840
82Abnormality of the ischium (HP:0003174)1.85521191
83Upper limb amyotrophy (HP:0009129)1.85185770
84Distal upper limb amyotrophy (HP:0007149)1.85185770
85Supraventricular tachycardia (HP:0004755)1.84671443
86Dysdiadochokinesis (HP:0002075)1.83443961
87Congenital glaucoma (HP:0001087)1.82358058
88Megalencephaly (HP:0001355)1.81055062
89Cutaneous finger syndactyly (HP:0010554)1.79921295
90Generalized tonic-clonic seizures (HP:0002069)1.77284611
91Spastic gait (HP:0002064)1.75966999
92Ankle contracture (HP:0006466)1.75408291
93Amblyopia (HP:0000646)1.75333517
94Abnormal eating behavior (HP:0100738)1.74858490
95Infantile muscular hypotonia (HP:0008947)1.74553963
96Excessive salivation (HP:0003781)1.74040553
97Poor eye contact (HP:0000817)1.71724795
98Febrile seizures (HP:0002373)1.71492180
99Abnormality of binocular vision (HP:0011514)1.71379494
100Diplopia (HP:0000651)1.71379494
101Genetic anticipation (HP:0003743)1.70100085
102Hip contracture (HP:0003273)1.69710957
103Broad-based gait (HP:0002136)1.68910287
104Arnold-Chiari malformation (HP:0002308)1.68868175
105Cutaneous syndactyly (HP:0012725)1.68819793
106Nemaline bodies (HP:0003798)1.68744523
107Dialeptic seizures (HP:0011146)1.68371259
108Coronal craniosynostosis (HP:0004440)1.68271819
109Heart block (HP:0012722)1.67969645
110Wormian bones (HP:0002645)1.67758988
111Broad ribs (HP:0000885)1.67503987
112Lower limb muscle weakness (HP:0007340)1.67070594
113Neonatal short-limb short stature (HP:0008921)1.66400709
114Foot dorsiflexor weakness (HP:0009027)1.65995563
115EEG with generalized epileptiform discharges (HP:0011198)1.65704360
116Depression (HP:0000716)1.65642570
117Incomplete penetrance (HP:0003829)1.65461163
118Hyperventilation (HP:0002883)1.64962152
119Fetal akinesia sequence (HP:0001989)1.64898848
120Abnormality of the Achilles tendon (HP:0005109)1.64771060
121Hemiparesis (HP:0001269)1.64527937
122Mild short stature (HP:0003502)1.63999505
123Syncope (HP:0001279)1.63697522
124Truncal ataxia (HP:0002078)1.63241705
125Dysmetria (HP:0001310)1.63035938
126Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)1.61506597
127Hemiplegia (HP:0002301)1.60636359
128Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.60419386
129Atrioventricular block (HP:0001678)1.59191501
130Abnormal atrioventricular conduction (HP:0005150)1.58925710
131Hypoplastic ischia (HP:0003175)1.55959328
132Abnormal social behavior (HP:0012433)1.55450537
133Impaired social interactions (HP:0000735)1.55450537
134Vitreoretinal degeneration (HP:0000655)1.53680428
135Pulmonic stenosis (HP:0001642)1.51928274
136Muscle fiber inclusion bodies (HP:0100299)1.50641440
137Impaired vibration sensation in the lower limbs (HP:0002166)1.50578033
138Insomnia (HP:0100785)1.49006066
139Sleep apnea (HP:0010535)1.48898414
140Thin ribs (HP:0000883)1.48839705
141Anxiety (HP:0000739)1.47388747
142Urinary urgency (HP:0000012)1.47034927
143Hypsarrhythmia (HP:0002521)1.46730561
144Delayed gross motor development (HP:0002194)1.45768739

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MARK12.98831092
2MAP3K92.55611484
3TTN2.54309316
4NTRK32.51459200
5PAK62.26211127
6EPHA42.24985192
7DDR22.16314209
8LATS22.09851243
9MAP3K41.89287334
10MINK11.89194012
11PAK31.88569978
12PDGFRA1.78161182
13NTRK11.73699431
14TRIB31.73655747
15PHKG11.72740190
16PHKG21.72740190
17DMPK1.70016198
18RIPK11.69673525
19PRKD31.69471592
20EPHB21.62874675
21MUSK1.61886781
22SIK21.61630143
23NTRK21.60308149
24DAPK21.54610852
25FGFR21.52707875
26TIE11.42012667
27CAMKK11.38151200
28PLK21.33216129
29KSR21.31855395
30TNIK1.30879802
31MYLK1.29602946
32FER1.23785986
33KSR11.22937609
34PTK2B1.20781895
35MAP3K121.20328346
36TYRO31.20279627
37CDK51.15439209
38RET1.12966479
39CAMK1G1.10760945
40CASK1.09626528
41WNK11.09276431
42TGFBR21.08971463
43PKN11.08221450
44PAK21.03364070
45MARK20.99844541
46STK380.98518200
47MAP2K40.98438514
48ROCK20.98422696
49PKN20.98360601
50UHMK10.97872580
51CDK150.96228471
52CDK140.96206751
53PNCK0.94507145
54PTK20.94247173
55MAPK130.93341165
56ERBB40.93318585
57CDK180.93113042
58STK38L0.92377129
59INSRR0.90600380
60CDC42BPA0.90157348
61ICK0.89941014
62LMTK20.88989783
63DAPK10.88420382
64ROCK10.88207260
65* STK110.87618549
66PINK10.86707397
67SGK4940.86099448
68SGK2230.86099448
69CAMK2A0.86079197
70CAMK2G0.83449431
71CDK11A0.82368969
72PRKCH0.81574047
73PRKD10.81288693
74MAPK150.80388618
75STK390.78967706
76MAP3K20.78910345
77OBSCN0.76737087
78PIK3CA0.76303523
79LATS10.74993104
80SGK20.74492294
81MOS0.73974936
82GRK50.73567517
83PDGFRB0.72716510
84ARAF0.72248343
85PRPF4B0.71830807
86LIMK10.71135385
87MAPKAPK50.71118769
88DYRK1A0.70919966
89MAPK120.70574125
90CDK190.69395343
91OXSR10.67494647
92PRKCE0.67051215
93CAMKK20.66858756
94WNK30.66568604
95MAP2K10.66193223
96CAMK10.65739050
97EPHB10.64387032
98MKNK20.63983193
99CAMK2D0.63213654
100MAP2K70.62627571
101SGK30.61208200
102ALK0.60820358
103DAPK30.60340998
104SIK10.60308693
105PRKCG0.60125124
106TAOK10.59828675
107BCR0.59792553
108FGR0.59290088
109BRSK10.58350389
110MET0.56634291
111FYN0.56509958
112FGFR10.56133027
113CSNK1G20.55477364
114PTK60.55254477
115MAP3K70.54381261
116ERBB30.54077976
117CAMK2B0.54052709
118GRK70.53486867
119PAK40.53069410
120CAMK40.51675357
121MAPK100.49914396
122SGK10.49575705
123RPS6KA20.48788646
124PLK30.46254258
125RPS6KA30.44278560
126TESK10.40043470
127ILK0.38484482
128CSNK1E0.34790423
129DYRK20.33795207

Predicted pathways (KEGG)

RankGene SetZ-score
1Dilated cardiomyopathy_Homo sapiens_hsa054142.07417565
2Nicotine addiction_Homo sapiens_hsa050331.99120214
3Circadian entrainment_Homo sapiens_hsa047131.92239120
4Synaptic vesicle cycle_Homo sapiens_hsa047211.89172910
5Glutamatergic synapse_Homo sapiens_hsa047241.87000518
6Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.80494669
7Axon guidance_Homo sapiens_hsa043601.78891294
8Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.77874069
9Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.76209909
10Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.76078786
11Long-term potentiation_Homo sapiens_hsa047201.74810376
12GABAergic synapse_Homo sapiens_hsa047271.70285653
13Olfactory transduction_Homo sapiens_hsa047401.67432902
14Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.63975829
15Amphetamine addiction_Homo sapiens_hsa050311.59598229
16Morphine addiction_Homo sapiens_hsa050321.59569510
17Salivary secretion_Homo sapiens_hsa049701.58593627
18Oxytocin signaling pathway_Homo sapiens_hsa049211.57039835
19Dopaminergic synapse_Homo sapiens_hsa047281.52696350
20Cholinergic synapse_Homo sapiens_hsa047251.51305000
21Vitamin B6 metabolism_Homo sapiens_hsa007501.50466158
22Gastric acid secretion_Homo sapiens_hsa049711.48550408
23Insulin secretion_Homo sapiens_hsa049111.46638069
24Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.43920865
25Aldosterone synthesis and secretion_Homo sapiens_hsa049251.43579945
26GnRH signaling pathway_Homo sapiens_hsa049121.42672441
27Renin secretion_Homo sapiens_hsa049241.42116352
28Long-term depression_Homo sapiens_hsa047301.38856655
29Gap junction_Homo sapiens_hsa045401.38620995
30Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.36167566
31Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.34948554
32Focal adhesion_Homo sapiens_hsa045101.32181392
33Estrogen signaling pathway_Homo sapiens_hsa049151.30656717
34Glioma_Homo sapiens_hsa052141.30463601
35ECM-receptor interaction_Homo sapiens_hsa045121.28409400
36Serotonergic synapse_Homo sapiens_hsa047261.25549859
37Cocaine addiction_Homo sapiens_hsa050301.25408795
38Cardiac muscle contraction_Homo sapiens_hsa042601.24020836
39Taste transduction_Homo sapiens_hsa047421.23255360
40Calcium signaling pathway_Homo sapiens_hsa040201.21536154
41cGMP-PKG signaling pathway_Homo sapiens_hsa040221.18804604
42Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.17592895
43ErbB signaling pathway_Homo sapiens_hsa040121.17346150
44Melanogenesis_Homo sapiens_hsa049161.17305187
45Type II diabetes mellitus_Homo sapiens_hsa049301.14301088
46Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.11877937
47Renal cell carcinoma_Homo sapiens_hsa052111.10342468
48cAMP signaling pathway_Homo sapiens_hsa040241.10330528
49Circadian rhythm_Homo sapiens_hsa047101.05255148
50Proteoglycans in cancer_Homo sapiens_hsa052051.03233456
51Vascular smooth muscle contraction_Homo sapiens_hsa042701.02791000
52Tight junction_Homo sapiens_hsa045301.02466332
53Hippo signaling pathway_Homo sapiens_hsa043901.01003274
54Rap1 signaling pathway_Homo sapiens_hsa040151.00575475
55Phospholipase D signaling pathway_Homo sapiens_hsa040721.00130550
56Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.99303719
57Amoebiasis_Homo sapiens_hsa051460.94971759
58MAPK signaling pathway_Homo sapiens_hsa040100.94379203
59Adherens junction_Homo sapiens_hsa045200.94265843
60Regulation of actin cytoskeleton_Homo sapiens_hsa048100.92105132
61Phosphatidylinositol signaling system_Homo sapiens_hsa040700.90845979
62Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.89480637
63Hedgehog signaling pathway_Homo sapiens_hsa043400.89062939
64Dorso-ventral axis formation_Homo sapiens_hsa043200.88835971
65Oocyte meiosis_Homo sapiens_hsa041140.87555957
66VEGF signaling pathway_Homo sapiens_hsa043700.87321506
67AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.86873127
68Ras signaling pathway_Homo sapiens_hsa040140.85213803
69Wnt signaling pathway_Homo sapiens_hsa043100.85026719
70Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.83878703
71Neurotrophin signaling pathway_Homo sapiens_hsa047220.80026442
72Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.79469744
73Basal cell carcinoma_Homo sapiens_hsa052170.77157989
74Endocytosis_Homo sapiens_hsa041440.76453602
75Choline metabolism in cancer_Homo sapiens_hsa052310.74215088
76Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.73357360
77Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.72142157
78Colorectal cancer_Homo sapiens_hsa052100.71849723
79Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.71763178
80mTOR signaling pathway_Homo sapiens_hsa041500.69321976
81Thyroid hormone signaling pathway_Homo sapiens_hsa049190.68719598
82Melanoma_Homo sapiens_hsa052180.68334222
83Endometrial cancer_Homo sapiens_hsa052130.68079616
84Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.67751093
85Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.67287063
86Sphingolipid signaling pathway_Homo sapiens_hsa040710.66946421
87Pancreatic secretion_Homo sapiens_hsa049720.65013665
88Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.64120962
89Chronic myeloid leukemia_Homo sapiens_hsa052200.63036261
90Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.62392553
91Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.62361060
92Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.61654609
93Platelet activation_Homo sapiens_hsa046110.61416835
94Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.60416894
95Collecting duct acid secretion_Homo sapiens_hsa049660.60203577
96Vibrio cholerae infection_Homo sapiens_hsa051100.59362532
97MicroRNAs in cancer_Homo sapiens_hsa052060.58724127
98Prion diseases_Homo sapiens_hsa050200.58365348
99Protein digestion and absorption_Homo sapiens_hsa049740.57403185
100Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.56916376
101Phototransduction_Homo sapiens_hsa047440.56053629
102Longevity regulating pathway - mammal_Homo sapiens_hsa042110.55852028
103Bile secretion_Homo sapiens_hsa049760.55359169
104TGF-beta signaling pathway_Homo sapiens_hsa043500.55156471
105Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.54813428
106Ovarian steroidogenesis_Homo sapiens_hsa049130.54657172
107Viral myocarditis_Homo sapiens_hsa054160.54344072
108Insulin signaling pathway_Homo sapiens_hsa049100.54314487
109Thyroid hormone synthesis_Homo sapiens_hsa049180.53869773
110Glucagon signaling pathway_Homo sapiens_hsa049220.52492935
111Inositol phosphate metabolism_Homo sapiens_hsa005620.52318464
1122-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.52222332
113Bladder cancer_Homo sapiens_hsa052190.52018287
114PI3K-Akt signaling pathway_Homo sapiens_hsa041510.47458523
115AMPK signaling pathway_Homo sapiens_hsa041520.46332293
116Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.46105196
117Arginine and proline metabolism_Homo sapiens_hsa003300.45654414

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