KCNC3

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 Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. Alternate splicing results in several transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1locomotory exploration behavior (GO:0035641)6.49395290
2cerebellar granule cell differentiation (GO:0021707)6.46864361
3response to pheromone (GO:0019236)6.27848754
4synaptic vesicle maturation (GO:0016188)6.07152740
5neuronal action potential propagation (GO:0019227)5.97614817
6positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.92177640
7cellular potassium ion homeostasis (GO:0030007)5.82610856
8sodium ion export (GO:0071436)5.79057369
9regulation of short-term neuronal synaptic plasticity (GO:0048172)5.70361826
10gamma-aminobutyric acid transport (GO:0015812)5.65580311
11cerebellar Purkinje cell differentiation (GO:0021702)5.65402596
12vocalization behavior (GO:0071625)5.57177125
13positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.53534597
14ionotropic glutamate receptor signaling pathway (GO:0035235)5.24931501
15neurotransmitter secretion (GO:0007269)5.17126867
16G-protein coupled glutamate receptor signaling pathway (GO:0007216)5.07271185
17glutamate receptor signaling pathway (GO:0007215)5.00151683
18regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.97798839
19neuromuscular process controlling posture (GO:0050884)4.93608136
20synaptic vesicle exocytosis (GO:0016079)4.89124202
21glutamate secretion (GO:0014047)4.85914712
22cell differentiation in hindbrain (GO:0021533)4.84947691
23regulation of synaptic vesicle exocytosis (GO:2000300)4.84641769
24synaptic transmission, glutamatergic (GO:0035249)4.73654079
25cell communication by electrical coupling involved in cardiac conduction (GO:0086064)4.62875712
26glycine transport (GO:0015816)4.58578731
27positive regulation of synapse maturation (GO:0090129)4.48786866
28synaptic vesicle docking involved in exocytosis (GO:0016081)4.41883032
29long-term memory (GO:0007616)4.36600621
30exploration behavior (GO:0035640)4.33530042
31potassium ion import (GO:0010107)4.33318553
32regulation of synaptic vesicle transport (GO:1902803)4.27752299
33regulation of glutamate receptor signaling pathway (GO:1900449)4.27163352
34neuron-neuron synaptic transmission (GO:0007270)4.20449353
35positive regulation of potassium ion transmembrane transporter activity (GO:1901018)4.14871587
36membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.14626536
37regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)4.13907314
38cell communication by electrical coupling (GO:0010644)4.12627237
39neurotransmitter transport (GO:0006836)4.10933233
40layer formation in cerebral cortex (GO:0021819)4.07471409
41neuromuscular process controlling balance (GO:0050885)4.05266962
42regulation of long-term neuronal synaptic plasticity (GO:0048169)3.97165785
43regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.96682582
44gamma-aminobutyric acid signaling pathway (GO:0007214)3.91355618
45potassium ion homeostasis (GO:0055075)3.89286103
46cellular sodium ion homeostasis (GO:0006883)3.87165065
47regulation of neurotransmitter levels (GO:0001505)3.83316235
48regulation of neuronal synaptic plasticity (GO:0048168)3.82637926
49regulation of excitatory postsynaptic membrane potential (GO:0060079)3.78373417
50transmission of nerve impulse (GO:0019226)3.77888486
51protein localization to synapse (GO:0035418)3.71979564
52L-amino acid import (GO:0043092)3.71024345
53dendritic spine morphogenesis (GO:0060997)3.70805320
54positive regulation of membrane potential (GO:0045838)3.68980348
55neuronal ion channel clustering (GO:0045161)3.66611550
56membrane depolarization during action potential (GO:0086010)3.66557982
57neurotransmitter-gated ion channel clustering (GO:0072578)3.63028947
58adult walking behavior (GO:0007628)3.62999969
59positive regulation of dendritic spine development (GO:0060999)3.61238212
60regulation of postsynaptic membrane potential (GO:0060078)3.60206877
61synaptic vesicle endocytosis (GO:0048488)3.58702494
62regulation of synapse structural plasticity (GO:0051823)3.54271140
63G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.53195981
64positive regulation of neurotransmitter secretion (GO:0001956)3.48601221
65long term synaptic depression (GO:0060292)3.43816123
66negative regulation of amyloid precursor protein catabolic process (GO:1902992)3.42247830
67negative regulation of dendrite morphogenesis (GO:0050774)3.41900939
68regulation of ARF protein signal transduction (GO:0032012)3.40825054
69positive regulation of dendritic spine morphogenesis (GO:0061003)3.39501130
70positive regulation of potassium ion transmembrane transport (GO:1901381)3.39286481
71C4-dicarboxylate transport (GO:0015740)3.38914767
72dendrite morphogenesis (GO:0048813)3.38105442
73regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.36916956
74establishment of nucleus localization (GO:0040023)3.33140213
75regulation of synapse maturation (GO:0090128)3.32347329
76negative regulation of hormone biosynthetic process (GO:0032353)3.32202062
77negative regulation of hormone metabolic process (GO:0032351)3.32202062
78negative regulation of synaptic transmission, GABAergic (GO:0032229)3.31982535
79membrane depolarization (GO:0051899)3.31877217
80activation of protein kinase A activity (GO:0034199)3.31198985
81membrane hyperpolarization (GO:0060081)3.31140504
82auditory behavior (GO:0031223)3.29356667
83positive regulation of neurotransmitter transport (GO:0051590)3.28476843
84neuromuscular process (GO:0050905)3.27405745
85chemosensory behavior (GO:0007635)3.26438340
86positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.25816662
87proline transport (GO:0015824)3.25641699
88neuron cell-cell adhesion (GO:0007158)3.21583014
89regulation of synaptic plasticity (GO:0048167)3.16393185
90regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.15991932
91membrane repolarization (GO:0086009)3.15452596
92regulation of calcium ion-dependent exocytosis (GO:0017158)3.11313603
93prepulse inhibition (GO:0060134)3.10084177
94regulation of voltage-gated calcium channel activity (GO:1901385)3.09898489
95dendritic spine organization (GO:0097061)3.09068336
96regulation of synaptic transmission, glutamatergic (GO:0051966)3.08043008
97regulation of dendritic spine morphogenesis (GO:0061001)3.05839016
98* regulation of neurotransmitter secretion (GO:0046928)3.04836293
99regulation of vesicle fusion (GO:0031338)3.04594488
100cytoskeletal anchoring at plasma membrane (GO:0007016)3.04491444
101neuromuscular synaptic transmission (GO:0007274)3.04130898
102central nervous system myelination (GO:0022010)3.03511899
103axon ensheathment in central nervous system (GO:0032291)3.03511899
104acidic amino acid transport (GO:0015800)3.03101839
105negative regulation of microtubule polymerization (GO:0031115)3.00441064
106amino acid import (GO:0043090)3.00224183
107cerebellar Purkinje cell layer development (GO:0021680)3.00220417
108long-term synaptic potentiation (GO:0060291)2.98492284
109cell communication involved in cardiac conduction (GO:0086065)2.98027205
110regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)2.96074252
111L-glutamate transport (GO:0015813)2.95748758
112mechanosensory behavior (GO:0007638)2.94796518
113* regulation of neurotransmitter transport (GO:0051588)2.94493457
114positive regulation of potassium ion transport (GO:0043268)2.93575559
115mating behavior (GO:0007617)2.92897130
116postsynaptic membrane organization (GO:0001941)2.92139749
117regulation of exocytosis (GO:0017157)2.91455484
118positive regulation of dendrite development (GO:1900006)2.89153852
119* regulation of synaptic transmission (GO:0050804)2.89018185
120cell migration in hindbrain (GO:0021535)2.88075312
121positive regulation of exocytosis (GO:0045921)2.81795944
122synaptic vesicle transport (GO:0048489)2.81270394
123establishment of synaptic vesicle localization (GO:0097480)2.81270394
124regulation of dendritic spine development (GO:0060998)2.80508101
125peptidyl-tyrosine autophosphorylation (GO:0038083)2.80107600
126signal release (GO:0023061)2.74123564

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.60682906
2SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.25779384
3DROSHA_22980978_ChIP-Seq_HELA_Human3.11260749
4SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.95941879
5RNF2_18974828_ChIP-Seq_MESCs_Mouse2.92633011
6EZH2_18974828_ChIP-Seq_MESCs_Mouse2.92633011
7JARID2_20064375_ChIP-Seq_MESCs_Mouse2.90313929
8EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.83409878
9* REST_21632747_ChIP-Seq_MESCs_Mouse2.78740566
10MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.71990036
11MTF2_20144788_ChIP-Seq_MESCs_Mouse2.66019643
12JARID2_20075857_ChIP-Seq_MESCs_Mouse2.62897775
13* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.52876523
14* IKZF1_21737484_ChIP-ChIP_HCT116_Human2.52705967
15SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.47635165
16* RARB_27405468_Chip-Seq_BRAIN_Mouse2.46982769
17EZH2_27294783_Chip-Seq_ESCs_Mouse2.44856888
18SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.44158033
19SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.40327607
20REST_18959480_ChIP-ChIP_MESCs_Mouse2.35581195
21GBX2_23144817_ChIP-Seq_PC3_Human2.25572100
22RNF2_27304074_Chip-Seq_ESCs_Mouse2.25125969
23EED_16625203_ChIP-ChIP_MESCs_Mouse2.20825742
24* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.20672435
25EZH2_27304074_Chip-Seq_ESCs_Mouse2.14492568
26ERG_21242973_ChIP-ChIP_JURKAT_Human2.01950168
27CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.81010701
28GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.73213497
29ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.72881099
30TCF7_22412390_ChIP-Seq_EML_Mouse1.72297803
31KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.71262371
32NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.70271921
33* KDM2B_26808549_Chip-Seq_K562_Human1.68234590
34THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.66720866
35RACK7_27058665_Chip-Seq_MCF-7_Human1.60485681
36DNAJC2_21179169_ChIP-ChIP_NT2_Human1.58516492
37ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.57150880
38* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.53769519
39* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.50668814
40NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.49473861
41VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.48131080
42ZNF274_21170338_ChIP-Seq_K562_Hela1.47676591
43* CREB1_26743006_Chip-Seq_LNCaP_Human1.42425542
44SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.42387457
45TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.41849049
46AR_21572438_ChIP-Seq_LNCaP_Human1.38067783
47* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.36746349
48* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.36706830
49AR_19668381_ChIP-Seq_PC3_Human1.35363609
50GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.33902322
51* RING1B_27294783_Chip-Seq_ESCs_Mouse1.32877415
52* P68_20966046_ChIP-Seq_HELA_Human1.32250974
53MYC_22102868_ChIP-Seq_BL_Human1.31937289
54* SMAD4_21799915_ChIP-Seq_A2780_Human1.30164664
55WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.29840174
56VDR_21846776_ChIP-Seq_THP-1_Human1.27694364
57ZFP281_27345836_Chip-Seq_ESCs_Mouse1.27132705
58ESR1_21235772_ChIP-Seq_MCF-7_Human1.25793686
59WT1_25993318_ChIP-Seq_PODOCYTE_Human1.24636231
60KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.21377735
61RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.20808773
62RING1B_27294783_Chip-Seq_NPCs_Mouse1.20062070
63SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.19918474
64PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.19145531
65SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.19138538
66* CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.18312938
67UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.15832782
68KDM2B_26808549_Chip-Seq_SUP-B15_Human1.15462946
69CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.15447657
70ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.14764124
71CTCF_27219007_Chip-Seq_ERYTHROID_Human1.14682345
72ELK3_25401928_ChIP-Seq_HUVEC_Human1.12947235
73RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.12068493
74GATA1_19941827_ChIP-Seq_MEL_Mouse1.12047778
75SA1_27219007_Chip-Seq_ERYTHROID_Human1.11650429
76SOX2_21211035_ChIP-Seq_LN229_Gbm1.11345332
77TET1_21490601_ChIP-Seq_MESCs_Mouse1.11295217
78RUNX1_27514584_Chip-Seq_MCF-7_Human1.10656837
79TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.09691393
80PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.09215033
81CTBP2_25329375_ChIP-Seq_LNCAP_Human1.08393370
82TET1_21451524_ChIP-Seq_MESCs_Mouse1.07190316
83E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.06032210
84NR3C1_23031785_ChIP-Seq_PC12_Mouse1.03962331
85* STAT3_23295773_ChIP-Seq_U87_Human1.03079570
86ESR1_20079471_ChIP-ChIP_T-47D_Human1.02860426
87SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.01392087
88DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.00761498
89RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.00541166
90ZNF217_24962896_ChIP-Seq_MCF-7_Human0.96498758
91SMAD4_21741376_ChIP-Seq_HESCs_Human0.96441741
92TP53_16413492_ChIP-PET_HCT116_Human0.96412296
93LXR_22292898_ChIP-Seq_THP-1_Human0.94556705
94CTNNB1_20460455_ChIP-Seq_HCT116_Human0.94401973
95RARG_19884340_ChIP-ChIP_MEFs_Mouse0.94312806
96SMAD3_21741376_ChIP-Seq_ESCs_Human0.93679693
97PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.93542520
98NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.93350592
99TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse0.93318139
100SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.93243766
101MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.92519444
102GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.92236158
103YAP1_20516196_ChIP-Seq_MESCs_Mouse0.91803174
104* SRY_22984422_ChIP-ChIP_TESTIS_Rat0.91146718
105GATA1_19941826_ChIP-Seq_K562_Human0.90867004
106* KDM2B_26808549_Chip-Seq_JURKAT_Human0.90797939
107MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.90282222
108TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.90083033
109NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.90037447
110SPI1_23127762_ChIP-Seq_K562_Human0.89770764
111* SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.89437951
112KLF4_19829295_ChIP-Seq_ESCs_Human0.89397223
113CDX2_19796622_ChIP-Seq_MESCs_Mouse0.89255885
114* AR_25329375_ChIP-Seq_VCAP_Human0.89194589
115TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.88735530
116CTBP1_25329375_ChIP-Seq_LNCAP_Human0.88300244
117P300_27058665_Chip-Seq_ZR-75-30cells_Human0.88209975
118TCF4_23295773_ChIP-Seq_U87_Human0.88124072
119CTCF_27219007_Chip-Seq_Bcells_Human0.87469217
120OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.87128269
121RXR_22108803_ChIP-Seq_LS180_Human0.87044881
122ESR2_21235772_ChIP-Seq_MCF-7_Human0.86481339
123TP53_20018659_ChIP-ChIP_R1E_Mouse0.86148875
124DPY_21335234_ChIP-Seq_ESCs_Mouse0.86006302
125JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse0.85973390
126SMAD3_21741376_ChIP-Seq_HESCs_Human0.85963926
127ARNT_22903824_ChIP-Seq_MCF-7_Human0.85394828
128* KDM2B_26808549_Chip-Seq_DND41_Human0.85196199
129P53_22127205_ChIP-Seq_FIBROBLAST_Human0.83926003
130AHR_22903824_ChIP-Seq_MCF-7_Human0.83429894
131SMAD4_21741376_ChIP-Seq_EPCs_Human0.82400180
132BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.82328737
133* SMC4_20622854_ChIP-Seq_HELA_Human0.81987338
134ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.77940728
135OCT4_19829295_ChIP-Seq_ESCs_Human0.76614875
136TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.76587174
137* EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.76584516
138CBX2_27304074_Chip-Seq_ESCs_Mouse0.75247459

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.41935659
2MP0009046_muscle_twitch4.74250042
3MP0003635_abnormal_synaptic_transmissio4.33354586
4MP0003880_abnormal_central_pattern3.53330894
5MP0008569_lethality_at_weaning3.39979580
6MP0009745_abnormal_behavioral_response3.35279731
7MP0002064_seizures3.34043614
8MP0004270_analgesia3.26315594
9MP0002272_abnormal_nervous_system3.13466771
10MP0002063_abnormal_learning/memory/cond3.03852906
11MP0005423_abnormal_somatic_nervous2.92767707
12MP0001968_abnormal_touch/_nociception2.71854992
13MP0002734_abnormal_mechanical_nocicepti2.69395407
14MP0002572_abnormal_emotion/affect_behav2.63174450
15MP0004145_abnormal_muscle_electrophysio2.58979160
16MP0001486_abnormal_startle_reflex2.50337121
17MP0002067_abnormal_sensory_capabilities2.49932155
18MP0001440_abnormal_grooming_behavior2.47800178
19MP0001501_abnormal_sleep_pattern2.42307190
20MP0002184_abnormal_innervation2.17267802
21MP0002735_abnormal_chemical_nociception2.11806279
22MP0004885_abnormal_endolymph2.11707396
23MP0002736_abnormal_nociception_after2.11448479
24MP0003123_paternal_imprinting2.10853646
25MP0004142_abnormal_muscle_tone2.04799897
26MP0003329_amyloid_beta_deposits2.04536715
27MP0002733_abnormal_thermal_nociception2.01275281
28MP0001970_abnormal_pain_threshold1.91321006
29MP0004858_abnormal_nervous_system1.79534059
30MP0000955_abnormal_spinal_cord1.75846038
31MP0001348_abnormal_lacrimal_gland1.74395151
32MP0002557_abnormal_social/conspecific_i1.73716388
33MP0002909_abnormal_adrenal_gland1.71244266
34MP0005386_behavior/neurological_phenoty1.64119224
35MP0004924_abnormal_behavior1.64119224
36MP0004811_abnormal_neuron_physiology1.62607162
37MP0002066_abnormal_motor_capabilities/c1.60982339
38MP0003633_abnormal_nervous_system1.57518991
39MP0003879_abnormal_hair_cell1.56335308
40MP0003632_abnormal_nervous_system1.53093137
41MP0000778_abnormal_nervous_system1.45276504
42MP0003631_nervous_system_phenotype1.43938268
43MP0002882_abnormal_neuron_morphology1.42023127
44MP0003690_abnormal_glial_cell1.39433894
45MP0004147_increased_porphyrin_level1.38657306
46MP0004742_abnormal_vestibular_system1.37900084
47MP0009780_abnormal_chondrocyte_physiolo1.36238996
48MP0000920_abnormal_myelination1.28558670
49MP0001346_abnormal_lacrimal_gland1.24851194
50MP0005409_darkened_coat_color1.23916921
51MP0003283_abnormal_digestive_organ1.22622276
52MP0004043_abnormal_pH_regulation1.22143714
53MP0001502_abnormal_circadian_rhythm1.21271462
54MP0008872_abnormal_physiological_respon1.17945389
55MP0002229_neurodegeneration1.17696123
56MP0002152_abnormal_brain_morphology1.16965274
57MP0003705_abnormal_hypodermis_morpholog1.13023138
58MP0005058_abnormal_lysosome_morphology1.12519424
59MP0002249_abnormal_larynx_morphology1.11296831
60MP0005083_abnormal_biliary_tract1.01243703
61MP0002822_catalepsy0.99300808
62MP0005551_abnormal_eye_electrophysiolog0.98005080
63MP0001984_abnormal_olfaction0.97777700
64MP0005076_abnormal_cell_differentiation0.96571385
65MP0003787_abnormal_imprinting0.95111500
66MP0000013_abnormal_adipose_tissue0.94800890
67MP0008961_abnormal_basal_metabolism0.94742282
68MP0000566_synostosis0.92593247
69MP0000604_amyloidosis0.92334261
70MP0002089_abnormal_postnatal_growth/wei0.92022481
71MP0004215_abnormal_myocardial_fiber0.91919915
72MP0003634_abnormal_glial_cell0.91618595
73MP0010234_abnormal_vibrissa_follicle0.91444781
74MP0003137_abnormal_impulse_conducting0.91289476
75MP0001177_atelectasis0.90265491
76MP0002069_abnormal_eating/drinking_beha0.86353256
77MP0008874_decreased_physiological_sensi0.85823561
78MP0001485_abnormal_pinna_reflex0.84616134
79MP0004233_abnormal_muscle_weight0.84384911
80MP0000751_myopathy0.82323214
81MP0005167_abnormal_blood-brain_barrier0.81544856
82MP0003045_fibrosis0.79766586
83MP0001963_abnormal_hearing_physiology0.79622135
84MP0005646_abnormal_pituitary_gland0.77170422
85MP0001299_abnormal_eye_distance/0.76543645
86MP0006072_abnormal_retinal_apoptosis0.75907850
87MP0006276_abnormal_autonomic_nervous0.75446741
88MP0003303_peritoneal_inflammation0.75000375
89MP0004085_abnormal_heartbeat0.73992541
90MP0004484_altered_response_of0.73813357
91MP0003075_altered_response_to0.72923547
92MP0002752_abnormal_somatic_nervous0.72405456
93MP0008260_abnormal_autophagy0.71687458
94MP0005645_abnormal_hypothalamus_physiol0.71412383
95MP0004510_myositis0.70920561
96MP0005535_abnormal_body_temperature0.68841185
97MP0010769_abnormal_survival0.68634091
98MP0000747_muscle_weakness0.68610628
99MP0005623_abnormal_meninges_morphology0.66739574
100MP0004130_abnormal_muscle_cell0.65934920
101MP0010768_mortality/aging0.65240542
102MP0005166_decreased_susceptibility_to0.64878351
103MP0000569_abnormal_digit_pigmentation0.64842483
104MP0000681_abnormal_thyroid_gland0.63470332
105MP0009278_abnormal_bone_marrow0.63000403
106MP0002082_postnatal_lethality0.62185941
107MP0010770_preweaning_lethality0.62185941
108MP0000678_abnormal_parathyroid_gland0.62152511
109MP0005187_abnormal_penis_morphology0.61825536
110MP0003938_abnormal_ear_development0.61621456
111MP0009672_abnormal_birth_weight0.61617730
112MP0003183_abnormal_peptide_metabolism0.60479062
113MP0003122_maternal_imprinting0.59127340
114MP0001765_abnormal_ion_homeostasis0.58834386
115MP0005499_abnormal_olfactory_system0.58558909
116MP0005394_taste/olfaction_phenotype0.58558909
117MP0000579_abnormal_nail_morphology0.58360702
118MP0003172_abnormal_lysosome_physiology0.58044592
119MP0001731_abnormal_postnatal_growth0.57515065
120MP0001943_abnormal_respiration0.56760535
121MP0003861_abnormal_nervous_system0.54364124
122MP0003956_abnormal_body_size0.53877191
123MP0002638_abnormal_pupillary_reflex0.53602757
124MP0001905_abnormal_dopamine_level0.53577012
125MP0004264_abnormal_extraembryonic_tissu0.51470680
126MP0001849_ear_inflammation0.50099562
127MP0003191_abnormal_cellular_cholesterol0.49184435
128* MP0002873_normal_phenotype0.45329630

Predicted human phenotypes

RankGene SetZ-score
1Action tremor (HP:0002345)6.92738022
2Visual hallucinations (HP:0002367)6.34215847
3Myokymia (HP:0002411)6.17910854
4Focal motor seizures (HP:0011153)6.12040659
5Focal seizures (HP:0007359)5.42772530
6* Progressive cerebellar ataxia (HP:0002073)5.07924640
7Gaze-evoked nystagmus (HP:0000640)5.05631026
8Atonic seizures (HP:0010819)4.71349203
9Dysdiadochokinesis (HP:0002075)4.55612093
10Hemiplegia (HP:0002301)4.48846904
11Scanning speech (HP:0002168)4.43695546
12Genetic anticipation (HP:0003743)4.43335782
13Febrile seizures (HP:0002373)4.41904848
14Impaired smooth pursuit (HP:0007772)4.34224143
15Dysmetric saccades (HP:0000641)4.32261796
16Intention tremor (HP:0002080)4.17956405
17Epileptic encephalopathy (HP:0200134)4.03589337
18Absence seizures (HP:0002121)3.96657463
19Abnormality of ocular smooth pursuit (HP:0000617)3.95708382
20Supranuclear gaze palsy (HP:0000605)3.85832737
21Abnormality of the lower motor neuron (HP:0002366)3.85058949
22Broad-based gait (HP:0002136)3.71935128
23Abnormality of binocular vision (HP:0011514)3.66949820
24Diplopia (HP:0000651)3.66949820
25Hemiparesis (HP:0001269)3.57260862
26Truncal ataxia (HP:0002078)3.52281772
27Dialeptic seizures (HP:0011146)3.47809539
28* Dysmetria (HP:0001310)3.44058249
29Generalized tonic-clonic seizures (HP:0002069)3.41933064
30Poor eye contact (HP:0000817)3.38681369
31Ventricular fibrillation (HP:0001663)3.38020923
32Tetraplegia (HP:0002445)3.27413488
33Annular pancreas (HP:0001734)3.25635954
34Depression (HP:0000716)3.22353720
35Abnormal social behavior (HP:0012433)3.17499998
36Impaired social interactions (HP:0000735)3.17499998
37Status epilepticus (HP:0002133)3.14633810
38Postural tremor (HP:0002174)3.03535705
39Anxiety (HP:0000739)3.01018737
40Postural instability (HP:0002172)2.95479865
41Abnormality of saccadic eye movements (HP:0000570)2.95039204
42Apathy (HP:0000741)2.93253059
43Abnormal eating behavior (HP:0100738)2.80441716
44Horizontal nystagmus (HP:0000666)2.71390406
45Agitation (HP:0000713)2.70965225
46Impaired vibration sensation in the lower limbs (HP:0002166)2.68798863
47Bundle branch block (HP:0011710)2.68792000
48Diminished motivation (HP:0000745)2.67182082
49Mutism (HP:0002300)2.64793316
50Ankle clonus (HP:0011448)2.61142735
51Peripheral hypomyelination (HP:0007182)2.59033224
52Akinesia (HP:0002304)2.51512889
53Hyperacusis (HP:0010780)2.49618739
54Spastic gait (HP:0002064)2.44942693
55Cerebral hypomyelination (HP:0006808)2.42446695
56Stereotypic behavior (HP:0000733)2.40062596
57Pointed chin (HP:0000307)2.37785481
58Lower limb asymmetry (HP:0100559)2.35161643
59Urinary bladder sphincter dysfunction (HP:0002839)2.34727579
60Abnormality of the corticospinal tract (HP:0002492)2.32216962
61Sleep apnea (HP:0010535)2.29276611
62Amyotrophic lateral sclerosis (HP:0007354)2.26654852
63Rapidly progressive (HP:0003678)2.25088445
64Craniofacial dystonia (HP:0012179)2.20310508
65Insomnia (HP:0100785)2.19259532
66Neuronal loss in central nervous system (HP:0002529)2.18583518
67Slow saccadic eye movements (HP:0000514)2.18406796
68Bronchomalacia (HP:0002780)2.17660167
69Megalencephaly (HP:0001355)2.16473524
70Myotonia (HP:0002486)2.13320870
71Neurofibrillary tangles (HP:0002185)2.10260769
72Delusions (HP:0000746)2.08626327
73Bradykinesia (HP:0002067)2.07820559
74Urinary urgency (HP:0000012)2.04652735
75Lower limb muscle weakness (HP:0007340)2.03662016
76Psychosis (HP:0000709)2.03041433
77Incomplete penetrance (HP:0003829)2.02315237
78Cerebral aneurysm (HP:0004944)2.02083741
79Spinal canal stenosis (HP:0003416)2.02042221
80Lower limb amyotrophy (HP:0007210)2.01778676
81Drooling (HP:0002307)2.01491909
82Excessive salivation (HP:0003781)2.01491909
83Amblyopia (HP:0000646)2.00610399
84Torticollis (HP:0000473)2.00320407
85Bowel incontinence (HP:0002607)1.99491504
86Increased cerebral lipofuscin (HP:0011813)1.97738001
87Confusion (HP:0001289)1.97718922
88Clonus (HP:0002169)1.97649953
89Focal dystonia (HP:0004373)1.96905336
90* Gait ataxia (HP:0002066)1.95889620
91Impaired vibratory sensation (HP:0002495)1.95654023
92Cholecystitis (HP:0001082)1.95512126
93Abnormal gallbladder physiology (HP:0012438)1.95512126
94Macroorchidism (HP:0000053)1.94109251
95Dementia (HP:0000726)1.91445220
96Cerebral inclusion bodies (HP:0100314)1.90053709
97Obstructive sleep apnea (HP:0002870)1.88043410
98Hand muscle atrophy (HP:0009130)1.87569379
99Oligodactyly (hands) (HP:0001180)1.86880401
100Epileptiform EEG discharges (HP:0011182)1.86545023
101EEG with generalized epileptiform discharges (HP:0011198)1.85240409
102Neoplasm of the heart (HP:0100544)1.84337937
103Abnormal large intestine physiology (HP:0012700)1.83514802
104Papilledema (HP:0001085)1.82684641
105Memory impairment (HP:0002354)1.82537331
106Limb dystonia (HP:0002451)1.81563249
107Spastic tetraparesis (HP:0001285)1.79819104
108Hypsarrhythmia (HP:0002521)1.78466504
109Aqueductal stenosis (HP:0002410)1.78318012
110Aplasia involving bones of the upper limbs (HP:0009823)1.78036640
111Aplasia of the phalanges of the hand (HP:0009802)1.78036640
112Aplasia involving bones of the extremities (HP:0009825)1.78036640
113Fetal akinesia sequence (HP:0001989)1.76448963
114Hyperventilation (HP:0002883)1.76411096
115Hyperthyroidism (HP:0000836)1.75513737
116* Limb ataxia (HP:0002070)1.74386994
117Distal upper limb amyotrophy (HP:0007149)1.72521441
118Upper limb amyotrophy (HP:0009129)1.72521441
119* Slow progression (HP:0003677)1.71607696
120Pheochromocytoma (HP:0002666)1.71575667
121Absent speech (HP:0001344)1.71575466
122Choreoathetosis (HP:0001266)1.70788113
123Distal sensory impairment (HP:0002936)1.70202518
124Rigidity (HP:0002063)1.68800783
125Abnormality of the periventricular white matter (HP:0002518)1.68463563
126Split foot (HP:0001839)1.67255873
127Decreased motor nerve conduction velocity (HP:0003431)1.67094416
128Hypoplastic nipples (HP:0002557)1.64239170
129Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.62855017
130Generalized myoclonic seizures (HP:0002123)1.61159002

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.11813752
2MAP3K93.48360257
3CAMKK23.13902532
4RIPK13.00778890
5CAMKK12.75057466
6MAP3K42.74191057
7MINK12.71617334
8PAK62.65628612
9STK382.51732722
10WNK12.51064707
11DAPK22.16671391
12NTRK22.12031053
13CDK192.07452706
14MAP2K42.00016054
15MARK11.98738563
16MAP2K71.89370360
17CDK121.86870581
18EPHA41.73807390
19PRKD31.71050174
20SIK11.60309683
21PRPF4B1.60069222
22KSR21.55072670
23UHMK11.51267001
24TYRO31.49009943
25PINK11.44057399
26PNCK1.41057529
27NTRK11.40656532
28GRK51.38923551
29PRKCG1.37481122
30ALK1.35411281
31RIPK41.33730330
32CDK51.33361274
33CAMK11.25610905
34STK111.22257870
35PRKCH1.20288790
36SGK2231.19051865
37SGK4941.19051865
38SIK21.17485071
39EEF2K1.15742043
40SGK31.09474855
41PHKG21.05386144
42PHKG11.05386144
43OXSR11.05373294
44TNIK1.03137372
45SGK21.02551350
46CDC42BPA1.01750293
47MAPK121.01633513
48LMTK21.01457160
49CAMK1G0.98563583
50KSR10.98552828
51CDK150.97852695
52CAMK40.94514815
53CDK180.94162665
54DAPK10.92858380
55SMG10.91801257
56CAMK1D0.90375918
57PLK20.90135071
58TAOK10.89081815
59CDK11A0.87166778
60RET0.86848155
61MAPK130.86512452
62ERN10.85059791
63CAMK2G0.84379914
64FES0.84234031
65CDK140.82524322
66ICK0.82178195
67MAP3K20.81845536
68MARK20.80795777
69MAP3K120.80708010
70PDK10.79222316
71CAMK2B0.78814778
72DYRK1A0.75194528
73CAMK2A0.74655466
74FGFR40.74386496
75MAP3K130.71626949
76MAP3K110.71408057
77SGK10.70631140
78PDPK10.70069992
79TNK20.69168428
80BMPR20.68442570
81ROCK20.63798138
82RPS6KA30.63701350
83IRAK20.62286202
84NEK60.62142660
85PAK30.59826776
86PKN20.59286319
87MAPKAPK50.59039447
88PTK60.58918614
89CAMK2D0.58481141
90PTK20.58135715
91TAOK20.56551053
92LATS20.55891799
93BMX0.52659702
94MAP3K70.52632347
95RPS6KA20.51931854
96HIPK20.51849092
97SCYL20.51340031
98MAPK100.51085240
99FYN0.50817730
100TESK10.48605237
101BRAF0.46004996
102MTOR0.45791724
103SIK30.45209140
104JAK20.44264610
105MAP3K10.44154319
106EPHB10.43811947
107PRKG10.42527926
108ARAF0.41678887
109PRKD20.41622137
110TRIB30.40997974
111PRKCZ0.39949657
112NEK10.39569669
113JAK10.37434086
114BLK0.37034516
115PRKG20.36765871
116RAF10.36736181
117ERBB20.36371364
118FGFR20.36308390
119BRSK10.36244819
120FER0.36131446
121MAPK80.34130003
122PRKAA10.34123510
123CSNK1E0.33826211
124SRC0.33782275
125PTK2B0.33440435

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.99297945
2Synaptic vesicle cycle_Homo sapiens_hsa047213.01673028
3Glutamatergic synapse_Homo sapiens_hsa047242.95813623
4Long-term potentiation_Homo sapiens_hsa047202.87208032
5Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.67064568
6Circadian entrainment_Homo sapiens_hsa047132.65189473
7GABAergic synapse_Homo sapiens_hsa047272.63384241
8Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.44345757
9Salivary secretion_Homo sapiens_hsa049702.32434186
10Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049642.27967397
11Long-term depression_Homo sapiens_hsa047302.25496611
12Morphine addiction_Homo sapiens_hsa050322.25001285
13Amphetamine addiction_Homo sapiens_hsa050312.15565705
14Taste transduction_Homo sapiens_hsa047422.14869443
15Gastric acid secretion_Homo sapiens_hsa049712.05719411
16Olfactory transduction_Homo sapiens_hsa047401.98769947
17Aldosterone synthesis and secretion_Homo sapiens_hsa049251.94638679
18Nitrogen metabolism_Homo sapiens_hsa009101.92627189
19Insulin secretion_Homo sapiens_hsa049111.91605128
20Dopaminergic synapse_Homo sapiens_hsa047281.83444413
21Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.74971077
22Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.70996481
23Cholinergic synapse_Homo sapiens_hsa047251.68181081
24Type II diabetes mellitus_Homo sapiens_hsa049301.56378870
25Oxytocin signaling pathway_Homo sapiens_hsa049211.52171493
26Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.51185961
27Phosphatidylinositol signaling system_Homo sapiens_hsa040701.50844860
28Calcium signaling pathway_Homo sapiens_hsa040201.49863242
29GnRH signaling pathway_Homo sapiens_hsa049121.34710914
30cAMP signaling pathway_Homo sapiens_hsa040241.32617786
31Renin secretion_Homo sapiens_hsa049241.30679072
32Pancreatic secretion_Homo sapiens_hsa049721.27689339
33Estrogen signaling pathway_Homo sapiens_hsa049151.21844544
34Gap junction_Homo sapiens_hsa045401.21695231
35Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.20982723
36Serotonergic synapse_Homo sapiens_hsa047261.20949895
37Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.16871098
38Cocaine addiction_Homo sapiens_hsa050301.15951948
39Thyroid hormone synthesis_Homo sapiens_hsa049181.14322391
40Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.13714011
41Prion diseases_Homo sapiens_hsa050201.12875306
42Vitamin B6 metabolism_Homo sapiens_hsa007501.04749562
43Carbohydrate digestion and absorption_Homo sapiens_hsa049731.04468190
44Bile secretion_Homo sapiens_hsa049761.04428757
45cGMP-PKG signaling pathway_Homo sapiens_hsa040221.03877607
46Phospholipase D signaling pathway_Homo sapiens_hsa040720.96317580
47Cardiac muscle contraction_Homo sapiens_hsa042600.93795448
48Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.92401907
49Inositol phosphate metabolism_Homo sapiens_hsa005620.86001704
50Glioma_Homo sapiens_hsa052140.85709760
51Melanogenesis_Homo sapiens_hsa049160.85338489
52B cell receptor signaling pathway_Homo sapiens_hsa046620.82953756
53ErbB signaling pathway_Homo sapiens_hsa040120.81721883
54Vascular smooth muscle contraction_Homo sapiens_hsa042700.78131530
55Dorso-ventral axis formation_Homo sapiens_hsa043200.77770352
56Oocyte meiosis_Homo sapiens_hsa041140.77668878
57Dilated cardiomyopathy_Homo sapiens_hsa054140.75939404
58Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.75891438
59Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.75218325
60Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.73998636
61Choline metabolism in cancer_Homo sapiens_hsa052310.73439771
62Axon guidance_Homo sapiens_hsa043600.67140798
63Collecting duct acid secretion_Homo sapiens_hsa049660.66876275
64MAPK signaling pathway_Homo sapiens_hsa040100.66369065
65mTOR signaling pathway_Homo sapiens_hsa041500.65629780
66Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.65260719
67Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.64708270
68Thyroid hormone signaling pathway_Homo sapiens_hsa049190.62015585
69Acute myeloid leukemia_Homo sapiens_hsa052210.60952414
70HIF-1 signaling pathway_Homo sapiens_hsa040660.60495869
71Neurotrophin signaling pathway_Homo sapiens_hsa047220.59905434
72Longevity regulating pathway - mammal_Homo sapiens_hsa042110.58200089
73Other glycan degradation_Homo sapiens_hsa005110.57358231
74Mineral absorption_Homo sapiens_hsa049780.57221752
75Arginine biosynthesis_Homo sapiens_hsa002200.55772543
76Circadian rhythm_Homo sapiens_hsa047100.55032901
77Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.54624071
78VEGF signaling pathway_Homo sapiens_hsa043700.54062863
79AMPK signaling pathway_Homo sapiens_hsa041520.53632885
80Glucagon signaling pathway_Homo sapiens_hsa049220.52700795
81Prolactin signaling pathway_Homo sapiens_hsa049170.52258111
82Chronic myeloid leukemia_Homo sapiens_hsa052200.51805508
83Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.51592761
84Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.50908999
85Notch signaling pathway_Homo sapiens_hsa043300.48858001
86Endocytosis_Homo sapiens_hsa041440.47926785
87Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.46932835
88Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.46902696
89Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.46688232
90Osteoclast differentiation_Homo sapiens_hsa043800.46649776
91Tuberculosis_Homo sapiens_hsa051520.45446827
92Rap1 signaling pathway_Homo sapiens_hsa040150.44309815
93Sphingolipid signaling pathway_Homo sapiens_hsa040710.43895623
94Fatty acid biosynthesis_Homo sapiens_hsa000610.42738725
95Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.42461918
96Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.42245764
97AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.41156818
98Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.39966090
99Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.39855013
100Lysosome_Homo sapiens_hsa041420.37694632
101SNARE interactions in vesicular transport_Homo sapiens_hsa041300.37604757
102Phototransduction_Homo sapiens_hsa047440.37565362
103Adipocytokine signaling pathway_Homo sapiens_hsa049200.35043673
104Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.34376063
105Toll-like receptor signaling pathway_Homo sapiens_hsa046200.33159217
106Endometrial cancer_Homo sapiens_hsa052130.32645481
107Non-small cell lung cancer_Homo sapiens_hsa052230.32265670
108Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.32109273
109Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.31169570
110Vibrio cholerae infection_Homo sapiens_hsa051100.31160443
111Ras signaling pathway_Homo sapiens_hsa040140.31146904
112Glycerophospholipid metabolism_Homo sapiens_hsa005640.30835855
113Insulin signaling pathway_Homo sapiens_hsa049100.29942192
114Ovarian steroidogenesis_Homo sapiens_hsa049130.28604869
115Chemokine signaling pathway_Homo sapiens_hsa040620.27512849
116Wnt signaling pathway_Homo sapiens_hsa043100.27334189
117Renal cell carcinoma_Homo sapiens_hsa052110.26615421
118Proteoglycans in cancer_Homo sapiens_hsa052050.25676595
119Central carbon metabolism in cancer_Homo sapiens_hsa052300.23656219
120Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.23455396
121Alcoholism_Homo sapiens_hsa050340.22536757
122Platelet activation_Homo sapiens_hsa046110.22025018

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