KIF5C

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 protein encoded by this gene is a kinesin heavy chain subunit involved in the transport of cargo within the central nervous system. The encoded protein, which acts as a tetramer by associating with another heavy chain and two light chains, interacts with protein kinase CK2. Mutations in this gene have been associated with complex cortical dysplasia with other brain malformations-2. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)6.22045775
2synaptic vesicle maturation (GO:0016188)6.10513352
3locomotory exploration behavior (GO:0035641)5.96407622
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.69444009
5positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.61027045
6vocalization behavior (GO:0071625)5.49228192
7synaptic vesicle exocytosis (GO:0016079)5.39066081
8regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.27314723
9glutamate secretion (GO:0014047)5.24215063
10pyrimidine nucleobase catabolic process (GO:0006208)5.08824728
11regulation of synaptic vesicle exocytosis (GO:2000300)5.05425868
12regulation of glutamate receptor signaling pathway (GO:1900449)4.91417788
13layer formation in cerebral cortex (GO:0021819)4.89643139
14synaptic vesicle docking involved in exocytosis (GO:0016081)4.87939013
15protein localization to synapse (GO:0035418)4.78701062
16presynaptic membrane organization (GO:0097090)4.77304132
17exploration behavior (GO:0035640)4.74395477
18ionotropic glutamate receptor signaling pathway (GO:0035235)4.67712799
19establishment of mitochondrion localization (GO:0051654)4.64575320
20neuronal action potential propagation (GO:0019227)4.62841959
21regulation of synapse structural plasticity (GO:0051823)4.57722947
22neurotransmitter secretion (GO:0007269)4.57501994
23neuron cell-cell adhesion (GO:0007158)4.56030852
24regulation of long-term neuronal synaptic plasticity (GO:0048169)4.51852090
25regulation of synaptic vesicle transport (GO:1902803)4.47809497
26regulation of neuronal synaptic plasticity (GO:0048168)4.46806917
27presynaptic membrane assembly (GO:0097105)4.40625274
28dendritic spine morphogenesis (GO:0060997)4.39173644
29mitochondrion transport along microtubule (GO:0047497)4.24683606
30establishment of mitochondrion localization, microtubule-mediated (GO:0034643)4.24683606
31synaptic transmission, glutamatergic (GO:0035249)4.20420101
32glutamate receptor signaling pathway (GO:0007215)4.18622327
33gamma-aminobutyric acid transport (GO:0015812)4.16424517
34nucleobase catabolic process (GO:0046113)4.12883295
35proline transport (GO:0015824)4.07689168
36neurotransmitter-gated ion channel clustering (GO:0072578)4.04014675
37neuron-neuron synaptic transmission (GO:0007270)3.99322352
38regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.94474962
39long-term memory (GO:0007616)3.90177598
40membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.86936957
41cellular potassium ion homeostasis (GO:0030007)3.82588294
42positive regulation of membrane potential (GO:0045838)3.79124244
43regulation of excitatory postsynaptic membrane potential (GO:0060079)3.77629554
44neuron recognition (GO:0008038)3.77226920
45positive regulation of synapse maturation (GO:0090129)3.74745031
46activation of protein kinase A activity (GO:0034199)3.73047282
47axon ensheathment in central nervous system (GO:0032291)3.72023524
48central nervous system myelination (GO:0022010)3.72023524
49neuromuscular process controlling balance (GO:0050885)3.70204799
50regulation of dendritic spine morphogenesis (GO:0061001)3.69358782
51dendrite morphogenesis (GO:0048813)3.67882661
52sodium ion export (GO:0071436)3.66128207
53neurotransmitter transport (GO:0006836)3.66012171
54regulation of postsynaptic membrane potential (GO:0060078)3.59080801
55cerebellar Purkinje cell differentiation (GO:0021702)3.57609542
56axonal fasciculation (GO:0007413)3.56750848
57mechanosensory behavior (GO:0007638)3.55236694
58transmission of nerve impulse (GO:0019226)3.51826106
59regulation of synaptic plasticity (GO:0048167)3.51637719
60regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.50577814
61adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)3.50528049
62adult walking behavior (GO:0007628)3.46857361
63neurofilament cytoskeleton organization (GO:0060052)3.45826018
64cell migration in hindbrain (GO:0021535)3.45182803
65prepulse inhibition (GO:0060134)3.43656769
66regulation of neurotransmitter levels (GO:0001505)3.40384535
67synaptic vesicle endocytosis (GO:0048488)3.40377837
68regulation of neurotransmitter secretion (GO:0046928)3.40029074
69positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.38927792
70auditory behavior (GO:0031223)3.38841372
71positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.36102993
72neuromuscular synaptic transmission (GO:0007274)3.34023050
73gamma-aminobutyric acid signaling pathway (GO:0007214)3.33926547
74regulation of synaptic transmission, glutamatergic (GO:0051966)3.31641718
75postsynaptic membrane organization (GO:0001941)3.28516611
76behavioral response to nicotine (GO:0035095)3.28069065
77axon extension (GO:0048675)3.27757518
78positive regulation of synaptic transmission, GABAergic (GO:0032230)3.26826066
79response to auditory stimulus (GO:0010996)3.24853663
80cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.24672846
81glycine transport (GO:0015816)3.22217078
82long-term synaptic potentiation (GO:0060291)3.22204625
83membrane depolarization during action potential (GO:0086010)3.22131787
84vesicle transport along microtubule (GO:0047496)3.21104014
85cell communication by electrical coupling (GO:0010644)3.20170937
86cell differentiation in hindbrain (GO:0021533)3.19483170
87G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.19412479
88G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.18749480
89regulation of vesicle fusion (GO:0031338)3.16444261
90membrane depolarization (GO:0051899)3.16051259
91regulation of neurotransmitter transport (GO:0051588)3.14706097
92innervation (GO:0060384)3.13860409
93neuromuscular process controlling posture (GO:0050884)3.13794914
94positive regulation of neurotransmitter secretion (GO:0001956)3.12655393
95synapse assembly (GO:0007416)3.12426267
96regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.11614078
97negative regulation of synaptic transmission, GABAergic (GO:0032229)3.11429147
98positive regulation of synapse assembly (GO:0051965)3.11361423
99neuronal ion channel clustering (GO:0045161)3.10521808
100dendritic spine organization (GO:0097061)3.09803039
101regulation of dendritic spine development (GO:0060998)3.09671622
102cerebellar granule cell differentiation (GO:0021707)3.08485332
103positive regulation of dendritic spine development (GO:0060999)3.07281272
104membrane hyperpolarization (GO:0060081)3.07130803
105positive regulation of neurotransmitter transport (GO:0051590)3.06981865
106regulation of ARF protein signal transduction (GO:0032012)3.06242133
107positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.06109256
108neuromuscular process (GO:0050905)3.05479614
109potassium ion homeostasis (GO:0055075)3.05001024
110organelle transport along microtubule (GO:0072384)3.04567212
111learning (GO:0007612)3.03255906
112positive regulation of dendritic spine morphogenesis (GO:0061003)3.01707536
113social behavior (GO:0035176)3.01370623
114intraspecies interaction between organisms (GO:0051703)3.01370623
115regulation of synapse maturation (GO:0090128)3.00799176
116regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.00020399
117behavioral defense response (GO:0002209)2.98923006
118behavioral fear response (GO:0001662)2.98923006
119central nervous system projection neuron axonogenesis (GO:0021952)2.97867240
120synapse organization (GO:0050808)2.95038592
121mating behavior (GO:0007617)2.94492909
122startle response (GO:0001964)2.92542972
123regulation of voltage-gated calcium channel activity (GO:1901385)2.87956605
124dopamine receptor signaling pathway (GO:0007212)2.87712839
125axon cargo transport (GO:0008088)2.85958193
126neuron projection extension (GO:1990138)2.83161735

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.21852244
2GBX2_23144817_ChIP-Seq_PC3_Human3.27780616
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.12993686
4JARID2_20064375_ChIP-Seq_MESCs_Mouse3.11181078
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.05082163
6* REST_21632747_ChIP-Seq_MESCs_Mouse2.81300410
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.78630812
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.78630812
9RARB_27405468_Chip-Seq_BRAIN_Mouse2.68212707
10JARID2_20075857_ChIP-Seq_MESCs_Mouse2.67859101
11DROSHA_22980978_ChIP-Seq_HELA_Human2.61167139
12SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.56702584
13MTF2_20144788_ChIP-Seq_MESCs_Mouse2.54584370
14* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.52446667
15EZH2_27304074_Chip-Seq_ESCs_Mouse2.51849848
16SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.47970787
17SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.47351198
18EZH2_27294783_Chip-Seq_ESCs_Mouse2.31395286
19REST_18959480_ChIP-ChIP_MESCs_Mouse2.31241161
20SUZ12_27294783_Chip-Seq_ESCs_Mouse2.28803394
21RNF2_27304074_Chip-Seq_ESCs_Mouse2.24234843
22EED_16625203_ChIP-ChIP_MESCs_Mouse2.19356860
23NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.15190031
24ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.14157849
25EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.10703748
26MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.10377420
27IKZF1_21737484_ChIP-ChIP_HCT116_Human2.06938103
28CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.04479653
29AR_21572438_ChIP-Seq_LNCaP_Human1.89196877
30GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.86368644
31CTBP2_25329375_ChIP-Seq_LNCAP_Human1.71194310
32TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.69986715
33ERG_21242973_ChIP-ChIP_JURKAT_Human1.66492087
34TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.64942292
35SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.60924379
36* SMAD4_21799915_ChIP-Seq_A2780_Human1.55897123
37TAF15_26573619_Chip-Seq_HEK293_Human1.53154541
38CTBP1_25329375_ChIP-Seq_LNCAP_Human1.50986457
39RBPJ_22232070_ChIP-Seq_NCS_Mouse1.48950319
40ZNF274_21170338_ChIP-Seq_K562_Hela1.44539982
41PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.37989170
42* RING1B_27294783_Chip-Seq_ESCs_Mouse1.37497707
43RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.37135531
44* OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.35619032
45SOX2_21211035_ChIP-Seq_LN229_Gbm1.32710722
46SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.30725799
47NR3C1_23031785_ChIP-Seq_PC12_Mouse1.30630758
48PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.28422604
49HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.28211069
50DNAJC2_21179169_ChIP-ChIP_NT2_Human1.26596770
51KDM2B_26808549_Chip-Seq_K562_Human1.24792154
52AR_19668381_ChIP-Seq_PC3_Human1.24595679
53RING1B_27294783_Chip-Seq_NPCs_Mouse1.21158627
54* RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.20187396
55ZFP281_18757296_ChIP-ChIP_E14_Mouse1.19832262
56SMAD3_21741376_ChIP-Seq_EPCs_Human1.19232629
57* P300_19829295_ChIP-Seq_ESCs_Human1.19075323
58STAT3_23295773_ChIP-Seq_U87_Human1.19010430
59ZFP57_27257070_Chip-Seq_ESCs_Mouse1.18980194
60AR_25329375_ChIP-Seq_VCAP_Human1.18724519
61* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.18235669
62* WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.18057222
63SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.16881322
64SMAD_19615063_ChIP-ChIP_OVARY_Human1.15976885
65CBX2_27304074_Chip-Seq_ESCs_Mouse1.15468143
66TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.14827380
67GATA1_26923725_Chip-Seq_HPCs_Mouse1.12588193
68TP53_20018659_ChIP-ChIP_R1E_Mouse1.11528364
69* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.11498704
70* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.10842405
71P53_22127205_ChIP-Seq_FIBROBLAST_Human1.09689384
72* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.09050035
73TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.08164206
74CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.08044535
75EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.07537825
76CDX2_19796622_ChIP-Seq_MESCs_Mouse1.07428481
77YAP1_20516196_ChIP-Seq_MESCs_Mouse1.07427421
78* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.06915163
79TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.06863974
80SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.06472014
81IGF1R_20145208_ChIP-Seq_DFB_Human1.06376670
82BMI1_23680149_ChIP-Seq_NPCS_Mouse1.03478819
83TCF4_23295773_ChIP-Seq_U87_Human1.02898316
84* ARNT_22903824_ChIP-Seq_MCF-7_Human1.01484016
85PIAS1_25552417_ChIP-Seq_VCAP_Human1.01456535
86KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.00227457
87* RNF2_27304074_Chip-Seq_NSC_Mouse0.99780171
88* ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.99245232
89MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.98273981
90SMAD3_21741376_ChIP-Seq_ESCs_Human0.97848918
91AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.97268049
92MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.96899673
93* AHR_22903824_ChIP-Seq_MCF-7_Human0.96529636
94RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.95707021
95GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.95140289
96SMAD4_21741376_ChIP-Seq_HESCs_Human0.93827321
97STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.93745858
98CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.93245491
99ZFP281_27345836_Chip-Seq_ESCs_Mouse0.92955728
100LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.92260921
101TP53_16413492_ChIP-PET_HCT116_Human0.91905453
102* RUNX2_22187159_ChIP-Seq_PCA_Human0.91093137
103PRDM14_20953172_ChIP-Seq_ESCs_Human0.90723794
104NR3C1_21868756_ChIP-Seq_MCF10A_Human0.89979172
105THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.88363917
106FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.87648484
107TET1_21490601_ChIP-Seq_MESCs_Mouse0.87093457
108SMAD3_21741376_ChIP-Seq_HESCs_Human0.87039727
109TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.86893996
110POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.86893996
111SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.86428049
112CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.85282501
113GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.85026445
114TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.84741593
115VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.81943985
116* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.81917688
117* TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.81439157
118RXR_22108803_ChIP-Seq_LS180_Human0.80937758
119CTCF_27219007_Chip-Seq_Bcells_Human0.80828870

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.74313908
2MP0003880_abnormal_central_pattern4.73357947
3MP0003635_abnormal_synaptic_transmissio4.26217134
4MP0004270_analgesia4.05419722
5MP0002063_abnormal_learning/memory/cond3.40482654
6MP0009745_abnormal_behavioral_response3.39542848
7MP0009046_muscle_twitch3.21803719
8MP0002064_seizures3.11945659
9MP0005423_abnormal_somatic_nervous3.09890459
10MP0001968_abnormal_touch/_nociception3.04781731
11MP0002734_abnormal_mechanical_nocicepti2.85993940
12MP0002572_abnormal_emotion/affect_behav2.76726542
13MP0002822_catalepsy2.70530045
14MP0001486_abnormal_startle_reflex2.58375851
15MP0002272_abnormal_nervous_system2.56047020
16MP0002735_abnormal_chemical_nociception2.34830346
17MP0003123_paternal_imprinting2.27391376
18MP0002736_abnormal_nociception_after2.23951431
19MP0002733_abnormal_thermal_nociception2.18808437
20MP0001501_abnormal_sleep_pattern2.16885175
21MP0001440_abnormal_grooming_behavior2.11560561
22MP0001970_abnormal_pain_threshold2.04360357
23MP0000778_abnormal_nervous_system2.03175444
24MP0002184_abnormal_innervation2.02615474
25MP0008569_lethality_at_weaning2.02375501
26MP0002067_abnormal_sensory_capabilities2.00825409
27MP0009780_abnormal_chondrocyte_physiolo1.98838561
28MP0003121_genomic_imprinting1.98389054
29MP0004858_abnormal_nervous_system1.98255141
30MP0004811_abnormal_neuron_physiology1.94510930
31MP0003329_amyloid_beta_deposits1.93108047
32MP0002909_abnormal_adrenal_gland1.83071454
33MP0002557_abnormal_social/conspecific_i1.81484737
34MP0004924_abnormal_behavior1.80762238
35MP0005386_behavior/neurological_phenoty1.80762238
36* MP0000955_abnormal_spinal_cord1.68751727
37MP0006276_abnormal_autonomic_nervous1.66915679
38MP0004885_abnormal_endolymph1.55990956
39MP0003879_abnormal_hair_cell1.50297509
40* MP0002882_abnormal_neuron_morphology1.48079538
41MP0002066_abnormal_motor_capabilities/c1.46409866
42MP0001984_abnormal_olfaction1.46055686
43MP0000569_abnormal_digit_pigmentation1.45815505
44MP0005646_abnormal_pituitary_gland1.41762053
45MP0003633_abnormal_nervous_system1.35367012
46MP0003787_abnormal_imprinting1.31657163
47MP0005645_abnormal_hypothalamus_physiol1.26452212
48MP0008877_abnormal_DNA_methylation1.25611055
49* MP0002152_abnormal_brain_morphology1.18508818
50MP0003631_nervous_system_phenotype1.16615721
51MP0004142_abnormal_muscle_tone1.16183756
52MP0001502_abnormal_circadian_rhythm1.14776878
53MP0001529_abnormal_vocalization1.11865662
54MP0002653_abnormal_ependyma_morphology1.05009800
55MP0001905_abnormal_dopamine_level1.04319371
56MP0004133_heterotaxia0.99515522
57MP0004145_abnormal_muscle_electrophysio0.97178102
58MP0001188_hyperpigmentation0.95763279
59MP0008872_abnormal_physiological_respon0.95643935
60MP0002229_neurodegeneration0.95508522
61MP0003122_maternal_imprinting0.94022152
62MP0004742_abnormal_vestibular_system0.93799721
63MP0001177_atelectasis0.93794563
64MP0003283_abnormal_digestive_organ0.93186974
65MP0000751_myopathy0.93096726
66MP0002069_abnormal_eating/drinking_beha0.92539739
67MP0005394_taste/olfaction_phenotype0.88807878
68MP0005499_abnormal_olfactory_system0.88807878
69MP0003632_abnormal_nervous_system0.88445445
70MP0003634_abnormal_glial_cell0.87634506
71MP0008961_abnormal_basal_metabolism0.87433659
72MP0008874_decreased_physiological_sensi0.87359457
73MP0003890_abnormal_embryonic-extraembry0.86023554
74MP0000604_amyloidosis0.84637971
75MP0000026_abnormal_inner_ear0.82875642
76MP0000013_abnormal_adipose_tissue0.82395894
77MP0006292_abnormal_olfactory_placode0.81669482
78MP0004085_abnormal_heartbeat0.80854388
79MP0003690_abnormal_glial_cell0.79964310
80MP0000920_abnormal_myelination0.77576015
81MP0000631_abnormal_neuroendocrine_gland0.76139647
82MP0005551_abnormal_eye_electrophysiolog0.76080303
83* MP0002752_abnormal_somatic_nervous0.75580300
84MP0005535_abnormal_body_temperature0.75553663
85MP0001963_abnormal_hearing_physiology0.74716920
86MP0003075_altered_response_to0.73305422
87MP0005187_abnormal_penis_morphology0.72712648
88MP0003938_abnormal_ear_development0.71696038
89MP0003861_abnormal_nervous_system0.69196968
90MP0010386_abnormal_urinary_bladder0.67993308
91MP0001299_abnormal_eye_distance/0.67490990
92MP0002090_abnormal_vision0.66515916
93MP0003137_abnormal_impulse_conducting0.66477460
94MP0002751_abnormal_autonomic_nervous0.66352166
95MP0004130_abnormal_muscle_cell0.66026566
96MP0002081_perinatal_lethality0.65456180
97MP0003119_abnormal_digestive_system0.65448964
98MP0004233_abnormal_muscle_weight0.65237141
99MP0004215_abnormal_myocardial_fiber0.64056999
100MP0010234_abnormal_vibrissa_follicle0.63149580
101MP0000534_abnormal_ureter_morphology0.63082680
102MP0005623_abnormal_meninges_morphology0.62273560
103MP0003942_abnormal_urinary_system0.62143386
104MP0005195_abnormal_posterior_eye0.61999483
105MP0001485_abnormal_pinna_reflex0.61469131
106MP0000566_synostosis0.60108010
107MP0010768_mortality/aging0.60013105
108MP0002638_abnormal_pupillary_reflex0.58002922
109MP0004484_altered_response_of0.57802398
110MP0010769_abnormal_survival0.57494348
111MP0001986_abnormal_taste_sensitivity0.56940520
112MP0001943_abnormal_respiration0.56937588
113MP0005409_darkened_coat_color0.56658836
114MP0005167_abnormal_blood-brain_barrier0.56134642
115MP0001348_abnormal_lacrimal_gland0.55991267
116MP0002082_postnatal_lethality0.55165100
117MP0010770_preweaning_lethality0.55165100
118MP0004510_myositis0.54751180
119MP0001664_abnormal_digestion0.54126301

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.10506602
2Myokymia (HP:0002411)7.02433445
3Focal seizures (HP:0007359)5.63610880
4Visual hallucinations (HP:0002367)5.18897940
5Action tremor (HP:0002345)4.46472049
6Progressive cerebellar ataxia (HP:0002073)4.44272992
7Epileptic encephalopathy (HP:0200134)4.43275614
8Atonic seizures (HP:0010819)4.32968169
9Febrile seizures (HP:0002373)4.21803043
10Absence seizures (HP:0002121)3.96001129
11Supranuclear gaze palsy (HP:0000605)3.87270861
12Ankle clonus (HP:0011448)3.76622441
13Generalized tonic-clonic seizures (HP:0002069)3.67399852
14Dialeptic seizures (HP:0011146)3.57834425
15Broad-based gait (HP:0002136)3.57537485
16Poor eye contact (HP:0000817)3.46985861
17Mutism (HP:0002300)3.40679518
18Gaze-evoked nystagmus (HP:0000640)3.40317950
19Papilledema (HP:0001085)3.38167658
20Impaired vibration sensation in the lower limbs (HP:0002166)3.33993649
21Urinary bladder sphincter dysfunction (HP:0002839)3.29848030
22Depression (HP:0000716)3.25149150
23Dysdiadochokinesis (HP:0002075)3.22082517
24Truncal ataxia (HP:0002078)3.14589274
25Abnormal social behavior (HP:0012433)3.14220563
26Impaired social interactions (HP:0000735)3.14220563
27Urinary urgency (HP:0000012)3.00031885
28Dysmetria (HP:0001310)2.99322340
29Abnormality of the lower motor neuron (HP:0002366)2.94915854
30Genetic anticipation (HP:0003743)2.94080363
31Anxiety (HP:0000739)2.88545151
32Abnormal eating behavior (HP:0100738)2.86657821
33Impaired smooth pursuit (HP:0007772)2.85138112
34Postural instability (HP:0002172)2.84709102
35Amblyopia (HP:0000646)2.82704329
36Insidious onset (HP:0003587)2.82381892
37Termporal pattern (HP:0011008)2.82381892
38Scanning speech (HP:0002168)2.77253811
39Hyperventilation (HP:0002883)2.76396968
40Excessive salivation (HP:0003781)2.75047965
41Drooling (HP:0002307)2.75047965
42Spastic gait (HP:0002064)2.74844586
43Hemiparesis (HP:0001269)2.70908931
44Progressive inability to walk (HP:0002505)2.68556040
45Intention tremor (HP:0002080)2.67997226
46Abnormality of the corticospinal tract (HP:0002492)2.66329190
47Torticollis (HP:0000473)2.64629791
48Sleep apnea (HP:0010535)2.62631767
49Megalencephaly (HP:0001355)2.62190959
50Diplopia (HP:0000651)2.57913600
51Abnormality of binocular vision (HP:0011514)2.57913600
52Amyotrophic lateral sclerosis (HP:0007354)2.57599065
53Hepatoblastoma (HP:0002884)2.57257798
54Neurofibrillary tangles (HP:0002185)2.53305441
55Cerebral inclusion bodies (HP:0100314)2.52426251
56Abnormality of ocular smooth pursuit (HP:0000617)2.49901999
57Limb dystonia (HP:0002451)2.49469441
58Stereotypic behavior (HP:0000733)2.48619190
59Dysmetric saccades (HP:0000641)2.45956995
60Hemiplegia (HP:0002301)2.45099562
61Focal dystonia (HP:0004373)2.43746466
62Bradykinesia (HP:0002067)2.41418425
63Gait imbalance (HP:0002141)2.39843969
64Pheochromocytoma (HP:0002666)2.38003938
65Epileptiform EEG discharges (HP:0011182)2.37501749
66EEG with generalized epileptiform discharges (HP:0011198)2.32590759
67Ventricular fibrillation (HP:0001663)2.31531966
68Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.31353492
69Degeneration of the lateral corticospinal tracts (HP:0002314)2.31353492
70Annular pancreas (HP:0001734)2.29778120
71Lower limb muscle weakness (HP:0007340)2.26920387
72Pointed chin (HP:0000307)2.26801069
73Agitation (HP:0000713)2.25475520
74Hypsarrhythmia (HP:0002521)2.24963768
75Pachygyria (HP:0001302)2.24926468
76Insomnia (HP:0100785)2.23893066
77Abnormality of the labia minora (HP:0012880)2.23092933
78Impaired vibratory sensation (HP:0002495)2.22220143
79Failure to thrive in infancy (HP:0001531)2.20878145
80Craniofacial dystonia (HP:0012179)2.18726109
81Inappropriate behavior (HP:0000719)2.18209273
82Status epilepticus (HP:0002133)2.17986288
83Absent speech (HP:0001344)2.15747274
84Inability to walk (HP:0002540)2.08967860
85Clonus (HP:0002169)2.06514136
86Lower limb asymmetry (HP:0100559)2.04557636
87Polyphagia (HP:0002591)2.03862688
88Lissencephaly (HP:0001339)2.02480614
89Apathy (HP:0000741)2.01972781
90Neuroendocrine neoplasm (HP:0100634)1.99194387
91Obstructive sleep apnea (HP:0002870)1.98467890
92Poor suck (HP:0002033)1.97226764
93Specific learning disability (HP:0001328)1.96339040
94* Spastic tetraplegia (HP:0002510)1.96223404
95Neuronal loss in central nervous system (HP:0002529)1.95491611
96Gait ataxia (HP:0002066)1.94964951
97Generalized myoclonic seizures (HP:0002123)1.92488339
98Lower limb amyotrophy (HP:0007210)1.91715642
99Akinesia (HP:0002304)1.90912481
100Aqueductal stenosis (HP:0002410)1.90469750
101Incomplete penetrance (HP:0003829)1.89251724
102Peripheral hypomyelination (HP:0007182)1.84748121
103Neoplasm of the peripheral nervous system (HP:0100007)1.83775705
104Bundle branch block (HP:0011710)1.83133092
105Abnormality of saccadic eye movements (HP:0000570)1.82627146
106Ankyloglossia (HP:0010296)1.82559269
107Abnormality of salivation (HP:0100755)1.81657804
108Morphological abnormality of the pyramidal tract (HP:0002062)1.80730914
109* Hypoplasia of the corpus callosum (HP:0002079)1.80430923
110Hypoplasia of the brainstem (HP:0002365)1.79567229
111Aplasia/Hypoplasia of the brainstem (HP:0007362)1.79567229
112Anosmia (HP:0000458)1.79275617
113Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.77593942
114Blue irides (HP:0000635)1.77507139
115Esotropia (HP:0000565)1.76974604
116Resting tremor (HP:0002322)1.76432883
117Spastic tetraparesis (HP:0001285)1.75832627
118Protruding tongue (HP:0010808)1.75570742
119Prolonged QT interval (HP:0001657)1.74313128
120Abnormal pancreas size (HP:0012094)1.73875768
121Restlessness (HP:0000711)1.72247543
122Intellectual disability, severe (HP:0010864)1.69492502
123Turricephaly (HP:0000262)1.69170449
124Medial flaring of the eyebrow (HP:0010747)1.68363589
125Vaginal atresia (HP:0000148)1.66889780
126Cerebral hypomyelination (HP:0006808)1.66675865

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MARK14.27992803
2NTRK34.20483612
3MAP3K94.14895193
4EPHA44.04150877
5MAP3K42.96950955
6MINK12.88639981
7DAPK22.56474238
8MAP2K72.37647112
9PAK62.34209416
10NTRK22.28870732
11KSR22.21349921
12CAMKK12.06097603
13NTRK11.99148020
14PRKD31.95749629
15MAP2K41.85460912
16KSR11.71826669
17RIPK41.64547658
18MAP3K121.58806679
19CDK51.57844469
20SIK21.51793415
21MAPK131.49469438
22DAPK11.43914137
23TNIK1.35664150
24STK381.31072245
25PNCK1.29987893
26PHKG21.29768721
27PHKG11.29768721
28CASK1.28070725
29MAP3K21.27964540
30CAMKK21.27681237
31LATS21.21902471
32CDK191.21789648
33TYRO31.21312655
34PLK21.20756411
35GRK51.19950769
36PRKCG1.15882404
37UHMK11.15599232
38PRPF4B1.13335236
39TAOK11.12884151
40BCR1.11799367
41RET1.02333420
42FES1.01329735
43ARAF0.99761367
44STK110.95934753
45CDK180.92995919
46CDK150.92617849
47PKN10.91198337
48CDK140.90016265
49SGK4940.89067022
50SGK2230.89067022
51LMTK20.86498026
52CAMK2A0.86169468
53CSNK1G20.86165489
54ALK0.84679865
55CAMK10.81912345
56CDK11A0.80449391
57PRKCH0.78550797
58WNK40.78539746
59SCYL20.77701401
60PAK30.77401343
61RIPK10.76917093
62MAP3K130.75021161
63RAF10.74516055
64SGK20.72033187
65MARK20.71784804
66PINK10.68795810
67EPHB20.68041305
68DYRK1A0.67740310
69CAMK1D0.66825833
70CAMK2B0.66806322
71SGK30.65775236
72SGK10.65156897
73DYRK1B0.62854784
74PDK10.60451232
75PRKCZ0.59241186
76PTK2B0.58566234
77ERBB30.57453276
78WNK10.57316515
79BRAF0.57261609
80CSNK1E0.56859417
81PDPK10.54933312
82OXSR10.54833265
83CSNK1G30.52901843
84CAMK1G0.51167394
85BMPR20.51069011
86CSNK1A1L0.50085241
87FYN0.49384673
88RPS6KA30.49281354
89MAP3K10.47664673
90CDC42BPA0.47340635
91ERBB20.46052335
92NEK10.46005739
93MAPK100.45222200
94MAPK120.44107407
95MAP3K60.42288927
96RPS6KA20.41628888
97CAMK40.41403552
98BRSK10.41097002
99PRKCE0.40988460
100CSNK1G10.40064283
101WNK30.39431879
102CSNK1D0.39216217
103MAP2K10.39044951
104PRKG10.38974430
105FGFR20.38944698
106TNK20.38629105
107CAMK2G0.37900026
108STK390.37856346
109PRKACA0.37436508
110ICK0.35987782
111PRKAA10.34964641
112CAMK2D0.34676980
113MAPK80.34288244
114CSNK1A10.34157916
115ROCK20.33999301
116PRKDC0.33941367
117GSK3B0.33690347
118LIMK10.33349392
119CCNB10.32889295
120FER0.32680834
121DAPK30.31363488
122MAP3K70.31146104
123PRKCB0.30723290
124DYRK20.30423143
125PRKCA0.28957977
126DMPK0.28751520
127RPS6KB10.27437419

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.56490477
2Synaptic vesicle cycle_Homo sapiens_hsa047213.18311005
3Olfactory transduction_Homo sapiens_hsa047402.70891337
4Long-term potentiation_Homo sapiens_hsa047202.67524360
5Circadian entrainment_Homo sapiens_hsa047132.65486436
6GABAergic synapse_Homo sapiens_hsa047272.64940763
7Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.58692748
8Glutamatergic synapse_Homo sapiens_hsa047242.57929478
9Morphine addiction_Homo sapiens_hsa050322.42767755
10Amphetamine addiction_Homo sapiens_hsa050312.35298102
11Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.29760324
12* Dopaminergic synapse_Homo sapiens_hsa047282.12900761
13Salivary secretion_Homo sapiens_hsa049702.12145495
14Cholinergic synapse_Homo sapiens_hsa047251.97699607
15Insulin secretion_Homo sapiens_hsa049111.93731491
16Gastric acid secretion_Homo sapiens_hsa049711.88702321
17Aldosterone synthesis and secretion_Homo sapiens_hsa049251.83191293
18Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.73411671
19Long-term depression_Homo sapiens_hsa047301.73335783
20Taste transduction_Homo sapiens_hsa047421.70148203
21Oxytocin signaling pathway_Homo sapiens_hsa049211.65085237
22Renin secretion_Homo sapiens_hsa049241.63748592
23Cocaine addiction_Homo sapiens_hsa050301.61898155
24Serotonergic synapse_Homo sapiens_hsa047261.54297676
25Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.53231036
26GnRH signaling pathway_Homo sapiens_hsa049121.48638052
27Calcium signaling pathway_Homo sapiens_hsa040201.47230251
28Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.44526205
29Gap junction_Homo sapiens_hsa045401.44172605
30Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.33549403
31Type II diabetes mellitus_Homo sapiens_hsa049301.30695869
32Estrogen signaling pathway_Homo sapiens_hsa049151.26568048
33cAMP signaling pathway_Homo sapiens_hsa040241.25387373
34Glioma_Homo sapiens_hsa052141.24143393
35Axon guidance_Homo sapiens_hsa043601.24008858
36Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.18641380
37Phosphatidylinositol signaling system_Homo sapiens_hsa040701.17176393
38Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.13302767
39Nitrogen metabolism_Homo sapiens_hsa009101.12469698
40ErbB signaling pathway_Homo sapiens_hsa040121.11245465
41Collecting duct acid secretion_Homo sapiens_hsa049661.06359107
42Melanogenesis_Homo sapiens_hsa049161.04844062
43cGMP-PKG signaling pathway_Homo sapiens_hsa040221.01959643
44Oocyte meiosis_Homo sapiens_hsa041140.99160964
45Dorso-ventral axis formation_Homo sapiens_hsa043200.93503187
46Phospholipase D signaling pathway_Homo sapiens_hsa040720.91791660
47Vascular smooth muscle contraction_Homo sapiens_hsa042700.86402211
48Cardiac muscle contraction_Homo sapiens_hsa042600.85298330
49Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.84902030
50Pancreatic secretion_Homo sapiens_hsa049720.83034263
51Neurotrophin signaling pathway_Homo sapiens_hsa047220.79679601
52Thyroid hormone synthesis_Homo sapiens_hsa049180.79301259
53Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.78416738
54Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.78276963
55Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.78053746
56Choline metabolism in cancer_Homo sapiens_hsa052310.76583775
57Carbohydrate digestion and absorption_Homo sapiens_hsa049730.75366288
58VEGF signaling pathway_Homo sapiens_hsa043700.73629931
59MAPK signaling pathway_Homo sapiens_hsa040100.72807869
60Alzheimers disease_Homo sapiens_hsa050100.71881913
61Endometrial cancer_Homo sapiens_hsa052130.70170240
62Phototransduction_Homo sapiens_hsa047440.68632566
63mTOR signaling pathway_Homo sapiens_hsa041500.68596301
64Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.68418601
65Dilated cardiomyopathy_Homo sapiens_hsa054140.68303053
66Vibrio cholerae infection_Homo sapiens_hsa051100.67797655
67Hippo signaling pathway_Homo sapiens_hsa043900.65388730
68Thyroid hormone signaling pathway_Homo sapiens_hsa049190.62827265
69Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.62628424
70Sphingolipid signaling pathway_Homo sapiens_hsa040710.60747267
71Rap1 signaling pathway_Homo sapiens_hsa040150.59838418
72Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.58853983
73Alcoholism_Homo sapiens_hsa050340.58536161
74Ras signaling pathway_Homo sapiens_hsa040140.57942286
75Glucagon signaling pathway_Homo sapiens_hsa049220.56324714
76Hedgehog signaling pathway_Homo sapiens_hsa043400.55876398
77Non-small cell lung cancer_Homo sapiens_hsa052230.55835823
78Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.54552413
79Renal cell carcinoma_Homo sapiens_hsa052110.53822293
80Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.53443224
81Bile secretion_Homo sapiens_hsa049760.52181490
82Parkinsons disease_Homo sapiens_hsa050120.51660174
83Oxidative phosphorylation_Homo sapiens_hsa001900.51603967
84* Endocytosis_Homo sapiens_hsa041440.50615554
85Insulin signaling pathway_Homo sapiens_hsa049100.50380442
86Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.49307004
87Inositol phosphate metabolism_Homo sapiens_hsa005620.49303565
88Longevity regulating pathway - mammal_Homo sapiens_hsa042110.49302395
89Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.48702015
90Vitamin B6 metabolism_Homo sapiens_hsa007500.47177292
91Type I diabetes mellitus_Homo sapiens_hsa049400.45807359
92Colorectal cancer_Homo sapiens_hsa052100.45475276
93Wnt signaling pathway_Homo sapiens_hsa043100.44440074
94Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.43938512
95Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.43770249
96Prion diseases_Homo sapiens_hsa050200.43030520
97Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.42187409
98Fatty acid biosynthesis_Homo sapiens_hsa000610.41763720
99Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.41269695
100Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.41207794
101Butanoate metabolism_Homo sapiens_hsa006500.40712024
102Tight junction_Homo sapiens_hsa045300.40517907
103Circadian rhythm_Homo sapiens_hsa047100.40147623
104Basal cell carcinoma_Homo sapiens_hsa052170.38169700
105Chemokine signaling pathway_Homo sapiens_hsa040620.37275752
106Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.34670062
107Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.34397621
108Steroid biosynthesis_Homo sapiens_hsa001000.33379194
109Central carbon metabolism in cancer_Homo sapiens_hsa052300.32676703
110Ovarian steroidogenesis_Homo sapiens_hsa049130.31884775
111Prolactin signaling pathway_Homo sapiens_hsa049170.31878721
112Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.31724338
113Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.31692322
114Ether lipid metabolism_Homo sapiens_hsa005650.31379528
115Regulation of autophagy_Homo sapiens_hsa041400.31160970
116AMPK signaling pathway_Homo sapiens_hsa041520.31064523
117Platelet activation_Homo sapiens_hsa046110.27772750
118African trypanosomiasis_Homo sapiens_hsa051430.27204787

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