KIF5A

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: This gene encodes a member of the kinesin family of proteins. Members of this family are part of a multisubunit complex that functions as a microtubule motor in intracellular organelle transport. Mutations in this gene cause autosomal dominant spastic paraplegia 10. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)6.83453707
2regulation of short-term neuronal synaptic plasticity (GO:0048172)6.60442582
3locomotory exploration behavior (GO:0035641)6.40096365
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)6.14022850
5positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.71380969
6synaptic vesicle docking involved in exocytosis (GO:0016081)5.58717236
7vocalization behavior (GO:0071625)5.48995083
8synaptic vesicle exocytosis (GO:0016079)5.40815696
9glutamate secretion (GO:0014047)5.38077283
10regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.29467221
11regulation of synaptic vesicle exocytosis (GO:2000300)5.25639341
12regulation of glutamate receptor signaling pathway (GO:1900449)5.08449595
13regulation of synapse structural plasticity (GO:0051823)5.00559226
14regulation of neuronal synaptic plasticity (GO:0048168)4.99006865
15regulation of long-term neuronal synaptic plasticity (GO:0048169)4.91712069
16neuronal action potential propagation (GO:0019227)4.78058348
17regulation of synaptic vesicle transport (GO:1902803)4.72534597
18neurotransmitter secretion (GO:0007269)4.71520928
19exploration behavior (GO:0035640)4.67663694
20cerebellar granule cell differentiation (GO:0021707)4.60031880
21ionotropic glutamate receptor signaling pathway (GO:0035235)4.58625452
22amino acid import (GO:0043090)4.53993047
23protein localization to synapse (GO:0035418)4.49540391
24dendritic spine morphogenesis (GO:0060997)4.42338680
25layer formation in cerebral cortex (GO:0021819)4.39129277
26membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.36076377
27negative regulation of synaptic transmission, GABAergic (GO:0032229)4.32185525
28central nervous system myelination (GO:0022010)4.29957349
29axon ensheathment in central nervous system (GO:0032291)4.29957349
30potassium ion homeostasis (GO:0055075)4.29599965
31postsynaptic membrane organization (GO:0001941)4.28537611
32gamma-aminobutyric acid transport (GO:0015812)4.22160454
33neurotransmitter-gated ion channel clustering (GO:0072578)4.19341955
34long-term memory (GO:0007616)4.14959542
35synaptic transmission, glutamatergic (GO:0035249)4.14261051
36positive regulation of membrane potential (GO:0045838)4.07257936
37cellular potassium ion homeostasis (GO:0030007)4.03614199
38neuromuscular process controlling balance (GO:0050885)4.01969878
39proline transport (GO:0015824)4.00362362
40sodium ion export (GO:0071436)3.98093359
41regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.96779476
42regulation of dendritic spine morphogenesis (GO:0061001)3.93848132
43neuron-neuron synaptic transmission (GO:0007270)3.91471556
44regulation of excitatory postsynaptic membrane potential (GO:0060079)3.90177661
45activation of protein kinase A activity (GO:0034199)3.89423554
46prepulse inhibition (GO:0060134)3.88595164
47positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.87830802
48glutamate receptor signaling pathway (GO:0007215)3.84895058
49neuron cell-cell adhesion (GO:0007158)3.78994080
50glycine transport (GO:0015816)3.78987862
51regulation of synaptic plasticity (GO:0048167)3.78964659
52gamma-aminobutyric acid signaling pathway (GO:0007214)3.75699886
53cellular sodium ion homeostasis (GO:0006883)3.74911361
54positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.74841096
55neurotransmitter transport (GO:0006836)3.73584845
56negative regulation of dendrite morphogenesis (GO:0050774)3.71676018
57auditory behavior (GO:0031223)3.70823122
58positive regulation of dendritic spine morphogenesis (GO:0061003)3.69142476
59regulation of postsynaptic membrane potential (GO:0060078)3.66042872
60positive regulation of synaptic transmission, GABAergic (GO:0032230)3.65840759
61regulation of synapse maturation (GO:0090128)3.65060685
62neuromuscular process controlling posture (GO:0050884)3.64941804
63positive regulation of neurotransmitter transport (GO:0051590)3.61750453
64G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.58024378
65response to auditory stimulus (GO:0010996)3.56835852
66neurotransmitter uptake (GO:0001504)3.55546189
67transmission of nerve impulse (GO:0019226)3.54297550
68regulation of neurotransmitter levels (GO:0001505)3.52174297
69regulation of neurotransmitter secretion (GO:0046928)3.51025961
70positive regulation of neurotransmitter secretion (GO:0001956)3.49718811
71neuronal ion channel clustering (GO:0045161)3.47902301
72acidic amino acid transport (GO:0015800)3.46255401
73regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.43057191
74regulation of synaptic transmission, glutamatergic (GO:0051966)3.42101069
75L-amino acid import (GO:0043092)3.41610768
76presynaptic membrane organization (GO:0097090)3.40910390
77regulation of ARF protein signal transduction (GO:0032012)3.40887411
78cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.37990301
79long-term synaptic potentiation (GO:0060291)3.37086928
80regulation of neurotransmitter transport (GO:0051588)3.34500444
81presynaptic membrane assembly (GO:0097105)3.33747693
82synaptic vesicle endocytosis (GO:0048488)3.33615523
83neuromuscular synaptic transmission (GO:0007274)3.28460243
84cerebellar Purkinje cell differentiation (GO:0021702)3.28124637
85membrane depolarization during action potential (GO:0086010)3.26477089
86cell communication by electrical coupling (GO:0010644)3.24270467
87dendritic spine organization (GO:0097061)3.23985717
88vesicle transport along microtubule (GO:0047496)3.23817164
89membrane hyperpolarization (GO:0060081)3.23157708
90positive regulation of synapse maturation (GO:0090129)3.21565952
91establishment of synaptic vesicle localization (GO:0097480)3.20704595
92synaptic vesicle transport (GO:0048489)3.20704595
93regulation of dendritic spine development (GO:0060998)3.20653000
94membrane depolarization (GO:0051899)3.20148657
95dendrite morphogenesis (GO:0048813)3.16524809
96neuromuscular process (GO:0050905)3.15630547
97negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.15308841
98regulation of vesicle fusion (GO:0031338)3.14742385
99establishment of mitochondrion localization (GO:0051654)3.14295169
100positive regulation of synaptic transmission (GO:0050806)3.13951758
101vesicle docking involved in exocytosis (GO:0006904)3.13157093
102regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.10080152
103positive regulation of dendritic spine development (GO:0060999)3.08594556
104cell communication involved in cardiac conduction (GO:0086065)3.07241933
105learning (GO:0007612)3.06933938
106cell migration in hindbrain (GO:0021535)3.06928584
107regulation of voltage-gated calcium channel activity (GO:1901385)3.05212489
108L-glutamate transport (GO:0015813)3.05040823
109neuron recognition (GO:0008038)3.04563594
110regulation of synaptic transmission (GO:0050804)3.04440785
111detection of calcium ion (GO:0005513)3.03599258
112regulation of female receptivity (GO:0045924)3.01664611
113potassium ion import (GO:0010107)3.00622535
114striatum development (GO:0021756)2.96423970
115visual learning (GO:0008542)2.95830946
116social behavior (GO:0035176)2.95372743
117intraspecies interaction between organisms (GO:0051703)2.95372743
118mating behavior (GO:0007617)2.94955492
119behavioral response to cocaine (GO:0048148)2.94838574
120dopamine receptor signaling pathway (GO:0007212)2.93176662
121adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)2.93009783
122* synaptic transmission (GO:0007268)2.90967688
123behavioral defense response (GO:0002209)2.89445070
124behavioral fear response (GO:0001662)2.89445070
125positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.89355243

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.82149266
2RARB_27405468_Chip-Seq_BRAIN_Mouse3.24229334
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.09082035
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.02881865
5JARID2_20064375_ChIP-Seq_MESCs_Mouse2.99504355
6DROSHA_22980978_ChIP-Seq_HELA_Human2.94474060
7REST_21632747_ChIP-Seq_MESCs_Mouse2.85147851
8GBX2_23144817_ChIP-Seq_PC3_Human2.82441952
9RNF2_18974828_ChIP-Seq_MESCs_Mouse2.79271343
10EZH2_18974828_ChIP-Seq_MESCs_Mouse2.79271343
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.68388416
12SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.61358766
13MTF2_20144788_ChIP-Seq_MESCs_Mouse2.60562381
14MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.58708044
15SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.54023837
16EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.44521536
17SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.43232675
18SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.40311971
19* REST_18959480_ChIP-ChIP_MESCs_Mouse2.37413694
20EZH2_27304074_Chip-Seq_ESCs_Mouse2.35361732
21SUZ12_27294783_Chip-Seq_ESCs_Mouse2.34306263
22IKZF1_21737484_ChIP-ChIP_HCT116_Human2.31281006
23EZH2_27294783_Chip-Seq_ESCs_Mouse2.28331516
24RNF2_27304074_Chip-Seq_ESCs_Mouse2.20645042
25EED_16625203_ChIP-ChIP_MESCs_Mouse2.05930289
26CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.98822155
27NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.91942999
28ERG_21242973_ChIP-ChIP_JURKAT_Human1.88985502
29ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.88155777
30AR_21572438_ChIP-Seq_LNCaP_Human1.78518001
31DNAJC2_21179169_ChIP-ChIP_NT2_Human1.57071793
32RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.51004152
33SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.48869221
34KDM2B_26808549_Chip-Seq_K562_Human1.47356303
35GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.42739531
36ZFP281_18757296_ChIP-ChIP_E14_Mouse1.39449046
37SMAD4_21799915_ChIP-Seq_A2780_Human1.38170582
38RING1B_27294783_Chip-Seq_ESCs_Mouse1.37890528
39* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.36614075
40TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.34184060
41CTBP2_25329375_ChIP-Seq_LNCAP_Human1.32542447
42WT1_25993318_ChIP-Seq_PODOCYTE_Human1.31493685
43WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.30101253
44RNF2_27304074_Chip-Seq_NSC_Mouse1.26693196
45GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.25522071
46TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.24682985
47CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.23396221
48AR_19668381_ChIP-Seq_PC3_Human1.23309483
49* SOX2_21211035_ChIP-Seq_LN229_Gbm1.23293460
50ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.23195949
51SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.17589457
52NR3C1_23031785_ChIP-Seq_PC12_Mouse1.17246988
53CBX2_27304074_Chip-Seq_ESCs_Mouse1.16530900
54CTBP1_25329375_ChIP-Seq_LNCAP_Human1.15392738
55SMAD_19615063_ChIP-ChIP_OVARY_Human1.14596906
56OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.14404493
57RING1B_27294783_Chip-Seq_NPCs_Mouse1.12367199
58GATA1_26923725_Chip-Seq_HPCs_Mouse1.12140984
59ZFP281_27345836_Chip-Seq_ESCs_Mouse1.11203525
60P53_22127205_ChIP-Seq_FIBROBLAST_Human1.10424748
61ZFP57_27257070_Chip-Seq_ESCs_Mouse1.09810546
62* STAT3_23295773_ChIP-Seq_U87_Human1.06627962
63PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.06627528
64ZNF274_21170338_ChIP-Seq_K562_Hela1.06099111
65RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.05909025
66PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.05383680
67SMAD3_21741376_ChIP-Seq_EPCs_Human1.04179361
68ZNF217_24962896_ChIP-Seq_MCF-7_Human1.03744040
69TAF15_26573619_Chip-Seq_HEK293_Human1.02988234
70AR_25329375_ChIP-Seq_VCAP_Human1.01609244
71TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.00599227
72CTCF_27219007_Chip-Seq_Bcells_Human1.00016034
73RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.99605180
74TET1_21490601_ChIP-Seq_MESCs_Mouse0.99068992
75VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.98843656
76SMAD3_21741376_ChIP-Seq_HESCs_Human0.96870674
77KDM2B_26808549_Chip-Seq_SUP-B15_Human0.96538635
78YAP1_20516196_ChIP-Seq_MESCs_Mouse0.96246030
79TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.94879208
80PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.94719047
81* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.94553219
82SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.94536718
83MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.94246665
84TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.93161720
85TCF4_23295773_ChIP-Seq_U87_Human0.92994099
86THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.92841025
87SMAD4_21741376_ChIP-Seq_HESCs_Human0.91713130
88DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.91613682
89RXR_22108803_ChIP-Seq_LS180_Human0.91248540
90SMAD3_21741376_ChIP-Seq_ESCs_Human0.90686717
91P300_19829295_ChIP-Seq_ESCs_Human0.90661643
92AHR_22903824_ChIP-Seq_MCF-7_Human0.90639055
93ARNT_22903824_ChIP-Seq_MCF-7_Human0.89434489
94KLF4_19829295_ChIP-Seq_ESCs_Human0.88887594
95CDX2_19796622_ChIP-Seq_MESCs_Mouse0.88506861
96SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.87790239
97OCT4_19829295_ChIP-Seq_ESCs_Human0.87468648
98OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.86623863
99* DPY_21335234_ChIP-Seq_ESCs_Mouse0.86034208
100TOP2B_26459242_ChIP-Seq_MCF-7_Human0.84164021
101* SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.83859134
102SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.83154096
103TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.82390756
104NR3C1_21868756_ChIP-Seq_MCF10A_Human0.82291364
105TP53_16413492_ChIP-PET_HCT116_Human0.81865580
106ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.81849010
107SMC4_20622854_ChIP-Seq_HELA_Human0.81240506
108CTNNB1_20460455_ChIP-Seq_HCT116_Human0.80776412
109FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.80626277
110BMI1_23680149_ChIP-Seq_NPCS_Mouse0.80261744
111BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.79704718
112LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.79221209
113SOX9_26525672_Chip-Seq_HEART_Mouse0.78550602
114ESR2_21235772_ChIP-Seq_MCF-7_Human0.78363601
115PRDM14_20953172_ChIP-Seq_ESCs_Human0.78362835
116ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.77329292
117RUNX2_22187159_ChIP-Seq_PCA_Human0.76840932
118EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.76578699
119RUNX1_26923725_Chip-Seq_HPCs_Mouse0.76181152
120POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.76115582
121TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.76115582
122SRY_22984422_ChIP-ChIP_TESTIS_Rat0.74918281

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity7.46223028
2MP0003880_abnormal_central_pattern4.59643485
3MP0002822_catalepsy4.40611836
4MP0003635_abnormal_synaptic_transmissio4.40052866
5MP0004270_analgesia3.92323110
6MP0009745_abnormal_behavioral_response3.60360534
7MP0002063_abnormal_learning/memory/cond3.49250388
8* MP0002064_seizures3.25428164
9MP0009046_muscle_twitch3.17153582
10MP0005423_abnormal_somatic_nervous3.01611489
11MP0001968_abnormal_touch/_nociception2.95354528
12MP0002572_abnormal_emotion/affect_behav2.78621336
13MP0001486_abnormal_startle_reflex2.71323697
14MP0002272_abnormal_nervous_system2.66151679
15MP0002734_abnormal_mechanical_nocicepti2.64327331
16MP0001501_abnormal_sleep_pattern2.29266905
17MP0002736_abnormal_nociception_after2.08748896
18MP0009780_abnormal_chondrocyte_physiolo2.05289011
19MP0002909_abnormal_adrenal_gland2.04315269
20MP0002733_abnormal_thermal_nociception1.97234119
21MP0001970_abnormal_pain_threshold1.96458757
22MP0004858_abnormal_nervous_system1.93319783
23MP0002735_abnormal_chemical_nociception1.91177247
24* MP0008569_lethality_at_weaning1.90498224
25* MP0004811_abnormal_neuron_physiology1.88511308
26MP0003329_amyloid_beta_deposits1.87375268
27MP0001440_abnormal_grooming_behavior1.87278541
28MP0002067_abnormal_sensory_capabilities1.78762534
29MP0005646_abnormal_pituitary_gland1.78506376
30MP0004924_abnormal_behavior1.71127458
31MP0005386_behavior/neurological_phenoty1.71127458
32MP0002557_abnormal_social/conspecific_i1.69349354
33MP0004885_abnormal_endolymph1.60599091
34MP0003879_abnormal_hair_cell1.60370531
35MP0002184_abnormal_innervation1.57376040
36MP0003633_abnormal_nervous_system1.54278601
37* MP0000955_abnormal_spinal_cord1.47724565
38MP0000778_abnormal_nervous_system1.46996895
39* MP0002066_abnormal_motor_capabilities/c1.41222512
40MP0003075_altered_response_to1.34971059
41MP0003123_paternal_imprinting1.34630809
42* MP0002882_abnormal_neuron_morphology1.34333949
43MP0001984_abnormal_olfaction1.33501487
44MP0003787_abnormal_imprinting1.32382255
45MP0003631_nervous_system_phenotype1.25409948
46MP0000569_abnormal_digit_pigmentation1.24023697
47MP0001529_abnormal_vocalization1.22505207
48MP0003690_abnormal_glial_cell1.21187227
49MP0003283_abnormal_digestive_organ1.18237063
50MP0008872_abnormal_physiological_respon1.18058033
51MP0005645_abnormal_hypothalamus_physiol1.16359274
52MP0005167_abnormal_blood-brain_barrier1.16053676
53MP0008961_abnormal_basal_metabolism1.10843590
54MP0001502_abnormal_circadian_rhythm1.10096516
55MP0008874_decreased_physiological_sensi1.09335024
56MP0001905_abnormal_dopamine_level1.07743381
57MP0004142_abnormal_muscle_tone1.07328959
58MP0006276_abnormal_autonomic_nervous1.06188829
59MP0002152_abnormal_brain_morphology1.04465278
60MP0004147_increased_porphyrin_level1.02460497
61MP0000920_abnormal_myelination1.02141997
62MP0000751_myopathy0.99173450
63MP0000013_abnormal_adipose_tissue0.96101466
64MP0002069_abnormal_eating/drinking_beha0.95323374
65MP0002638_abnormal_pupillary_reflex0.91527586
66MP0001986_abnormal_taste_sensitivity0.88986610
67MP0005535_abnormal_body_temperature0.88467405
68MP0000604_amyloidosis0.87799407
69MP0008877_abnormal_DNA_methylation0.87171926
70MP0003634_abnormal_glial_cell0.85947257
71* MP0002229_neurodegeneration0.85676692
72* MP0001177_atelectasis0.85295151
73MP0010234_abnormal_vibrissa_follicle0.84239398
74MP0003122_maternal_imprinting0.83879399
75MP0003632_abnormal_nervous_system0.83748299
76MP0001346_abnormal_lacrimal_gland0.82059508
77MP0004085_abnormal_heartbeat0.81529942
78MP0001348_abnormal_lacrimal_gland0.80263932
79MP0002090_abnormal_vision0.78263431
80MP0003172_abnormal_lysosome_physiology0.77232799
81MP0003121_genomic_imprinting0.75947582
82MP0005394_taste/olfaction_phenotype0.74710683
83MP0005499_abnormal_olfactory_system0.74710683
84MP0005409_darkened_coat_color0.74381902
85MP0004145_abnormal_muscle_electrophysio0.69675370
86MP0004510_myositis0.68065886
87MP0005623_abnormal_meninges_morphology0.67717448
88MP0001188_hyperpigmentation0.67102889
89MP0004742_abnormal_vestibular_system0.65075366
90MP0001963_abnormal_hearing_physiology0.63557470
91MP0003137_abnormal_impulse_conducting0.63410985
92MP0005551_abnormal_eye_electrophysiolog0.62758189
93MP0010386_abnormal_urinary_bladder0.61420064
94MP0001485_abnormal_pinna_reflex0.61092342
95MP0004043_abnormal_pH_regulation0.58288995
96MP0003861_abnormal_nervous_system0.57901510
97MP0005166_decreased_susceptibility_to0.56588854
98MP0000631_abnormal_neuroendocrine_gland0.56128026
99MP0002752_abnormal_somatic_nervous0.56071002
100MP0001664_abnormal_digestion0.55217996
101* MP0010768_mortality/aging0.54207956
102MP0001299_abnormal_eye_distance/0.53029387
103MP0000026_abnormal_inner_ear0.52517672
104MP0000579_abnormal_nail_morphology0.52256363
105MP0004233_abnormal_muscle_weight0.51166352
106MP0004215_abnormal_myocardial_fiber0.51134871
107* MP0010769_abnormal_survival0.50321608
108MP0004130_abnormal_muscle_cell0.50245101
109MP0003938_abnormal_ear_development0.49262345
110* MP0003956_abnormal_body_size0.48754934
111MP0010770_preweaning_lethality0.47861889
112MP0002082_postnatal_lethality0.47861889
113* MP0001943_abnormal_respiration0.47303142

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)8.48086193
2Focal motor seizures (HP:0011153)7.69262723
3Focal seizures (HP:0007359)5.89275800
4Visual hallucinations (HP:0002367)5.32161851
5Action tremor (HP:0002345)4.61591670
6Epileptic encephalopathy (HP:0200134)4.25383165
7Febrile seizures (HP:0002373)4.19262317
8Atonic seizures (HP:0010819)4.14105309
9Progressive cerebellar ataxia (HP:0002073)4.04353006
10Generalized tonic-clonic seizures (HP:0002069)3.89652477
11Absence seizures (HP:0002121)3.87978248
12Supranuclear gaze palsy (HP:0000605)3.85514917
13Poor eye contact (HP:0000817)3.75639312
14Depression (HP:0000716)3.71651578
15Papilledema (HP:0001085)3.71058916
16Postural instability (HP:0002172)3.55254404
17Dialeptic seizures (HP:0011146)3.52251348
18Cerebral hypomyelination (HP:0006808)3.47254533
19Gaze-evoked nystagmus (HP:0000640)3.43212603
20Dysdiadochokinesis (HP:0002075)3.42029315
21Impaired social interactions (HP:0000735)3.41891877
22Abnormal social behavior (HP:0012433)3.41891877
23Broad-based gait (HP:0002136)3.36234859
24Torticollis (HP:0000473)3.35712297
25Anxiety (HP:0000739)3.35299596
26Dysmetria (HP:0001310)3.28917785
27Annular pancreas (HP:0001734)3.20590666
28Abnormality of the lower motor neuron (HP:0002366)3.19504726
29Mutism (HP:0002300)3.14001600
30Abnormal eating behavior (HP:0100738)3.07713358
31Focal dystonia (HP:0004373)3.05310827
32Ventricular fibrillation (HP:0001663)3.05253247
33Intention tremor (HP:0002080)3.01769667
34Delusions (HP:0000746)3.01070043
35Truncal ataxia (HP:0002078)3.00487025
36Hemiplegia (HP:0002301)2.89878251
37Impaired smooth pursuit (HP:0007772)2.88652781
38* Ankle clonus (HP:0011448)2.87752356
39Peripheral hypomyelination (HP:0007182)2.86958191
40Akinesia (HP:0002304)2.80430970
41Craniofacial dystonia (HP:0012179)2.77517511
42Bradykinesia (HP:0002067)2.74637159
43Scanning speech (HP:0002168)2.74197555
44Megalencephaly (HP:0001355)2.69130805
45Pointed chin (HP:0000307)2.68800331
46Amblyopia (HP:0000646)2.67488587
47Stereotypic behavior (HP:0000733)2.66616277
48Genetic anticipation (HP:0003743)2.63857623
49Sleep apnea (HP:0010535)2.63251359
50Resting tremor (HP:0002322)2.62599464
51Dysmetric saccades (HP:0000641)2.61206242
52* Impaired vibration sensation in the lower limbs (HP:0002166)2.60049719
53Bundle branch block (HP:0011710)2.59580523
54Insomnia (HP:0100785)2.56581830
55Abnormality of ocular smooth pursuit (HP:0000617)2.52291426
56Progressive inability to walk (HP:0002505)2.51935063
57Hemiparesis (HP:0001269)2.51245749
58Polyphagia (HP:0002591)2.48581427
59Neurofibrillary tangles (HP:0002185)2.45710410
60Degeneration of the lateral corticospinal tracts (HP:0002314)2.44875265
61Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.44875265
62* Urinary bladder sphincter dysfunction (HP:0002839)2.43102499
63Status epilepticus (HP:0002133)2.39559264
64Abnormality of binocular vision (HP:0011514)2.34265957
65Diplopia (HP:0000651)2.34265957
66Ankyloglossia (HP:0010296)2.32850608
67* Spastic gait (HP:0002064)2.29108175
68Termporal pattern (HP:0011008)2.28414733
69Insidious onset (HP:0003587)2.28414733
70CNS hypomyelination (HP:0003429)2.28267098
71Cerebral inclusion bodies (HP:0100314)2.26284223
72Diminished motivation (HP:0000745)2.26136471
73Lower limb amyotrophy (HP:0007210)2.24246552
74Choreoathetosis (HP:0001266)2.24220357
75Fetal akinesia sequence (HP:0001989)2.24064155
76Hyperventilation (HP:0002883)2.20337813
77Morphological abnormality of the pyramidal tract (HP:0002062)2.19373868
78* Urinary urgency (HP:0000012)2.17916531
79Abnormal EKG (HP:0003115)2.13242064
80Excessive salivation (HP:0003781)2.11643229
81Drooling (HP:0002307)2.11643229
82* Clonus (HP:0002169)2.11226569
83Abnormality of saccadic eye movements (HP:0000570)2.09839018
84Obstructive sleep apnea (HP:0002870)2.08078868
85Incomplete penetrance (HP:0003829)2.07181499
86Neuronal loss in central nervous system (HP:0002529)2.05802426
87Pheochromocytoma (HP:0002666)2.05355992
88Epileptiform EEG discharges (HP:0011182)2.05142811
89Increased circulating renin level (HP:0000848)2.04396429
90EEG with generalized epileptiform discharges (HP:0011198)2.03166403
91Split foot (HP:0001839)2.02414232
92Amyotrophic lateral sclerosis (HP:0007354)2.02190669
93Tetraplegia (HP:0002445)2.01510094
94Rigidity (HP:0002063)2.01447691
95Abnormality of the periventricular white matter (HP:0002518)2.00982715
96Generalized myoclonic seizures (HP:0002123)2.00374362
97Hypsarrhythmia (HP:0002521)1.99573201
98Lower limb asymmetry (HP:0100559)1.98243642
99Limb dystonia (HP:0002451)1.97953194
100* Impaired vibratory sensation (HP:0002495)1.97150195
101Gait ataxia (HP:0002066)1.96905254
102Abnormality of the corticospinal tract (HP:0002492)1.96072847
103Rapidly progressive (HP:0003678)1.88811115
104Prolonged QT interval (HP:0001657)1.87010678
105Apathy (HP:0000741)1.85665497
106* Lower limb muscle weakness (HP:0007340)1.84329564
107Spastic tetraplegia (HP:0002510)1.83687198
108Aplasia involving bones of the extremities (HP:0009825)1.82828160
109Aplasia involving bones of the upper limbs (HP:0009823)1.82828160
110Aplasia of the phalanges of the hand (HP:0009802)1.82828160
111Spinal canal stenosis (HP:0003416)1.82659195
112Absent speech (HP:0001344)1.82341792
113Agitation (HP:0000713)1.81439000
114Neoplasm of the peripheral nervous system (HP:0100007)1.79288954
115Memory impairment (HP:0002354)1.78228295
116Spastic tetraparesis (HP:0001285)1.74831774
117Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.73829640
118Inability to walk (HP:0002540)1.73493210
119Hypoplasia of the corpus callosum (HP:0002079)1.69866908

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA45.12910704
2NTRK34.27256087
3MAP3K94.11689955
4DAPK23.04100910
5PRKD32.96195231
6MINK12.70132555
7MAP3K42.59222378
8MARK12.52363293
9KSR22.50540711
10PAK62.45904456
11CAMKK12.37871939
12NTRK12.19676050
13NTRK22.09310965
14MAP2K71.97552736
15RIPK41.95444307
16STK381.67305528
17MAP2K41.64960098
18CDK51.63379625
19DAPK11.61685027
20KSR11.47209832
21TYRO31.46248425
22TAOK11.46166280
23MAP3K21.40496534
24ARAF1.40251192
25FES1.37636889
26MAP3K121.35635373
27MAP3K131.35448509
28TNIK1.29125575
29PRPF4B1.27444007
30SIK21.25981183
31UHMK11.19820473
32CDK191.17800254
33PINK11.17791686
34GRK51.17298552
35PRKCH1.10000418
36PRKCG1.09360835
37ALK1.08972572
38CAMKK21.06475750
39LMTK21.02178414
40CAMK11.01628844
41STK111.00462864
42SGK4940.97620471
43SGK2230.97620471
44MAPK130.96324849
45PLK20.93441058
46RET0.93115928
47RIPK10.91489371
48RAF10.91358881
49CDK150.89371667
50CDK180.88362739
51LATS20.85109613
52SGK30.84712238
53PHKG10.83123831
54PHKG20.83123831
55CDK140.82395445
56TNK20.81147162
57NEK10.81143354
58PDK10.81051659
59MAPK120.79185684
60SGK20.78584329
61CDK11A0.77935268
62BRSK10.75387521
63CAMK2A0.75034114
64PDPK10.74968613
65PKN10.74835800
66MAP3K10.72205235
67MARK20.69404041
68SGK10.69210861
69PNCK0.67920566
70PTK2B0.63274452
71PAK30.63069373
72CAMK2B0.60861144
73LIMK10.60515327
74SCYL20.60231831
75WNK10.58353584
76BMPR20.57335923
77NEK60.57059604
78CDC42BPA0.55932945
79MAP3K70.55537229
80RPS6KA30.55226919
81CAMK40.53512933
82DAPK30.52858037
83OXSR10.51731557
84MAP3K110.51612491
85MAPK100.50121382
86PRKCZ0.49746706
87BRAF0.49527052
88ROCK20.48472895
89FYN0.48432885
90DYRK1A0.47437221
91CSNK1G20.45904463
92CCNB10.44387636
93MAP2K10.42808190
94DMPK0.42327058
95CAMK2G0.39945762
96CAMK1G0.39471954
97TRIB30.35034226
98DDR20.34987209
99CASK0.34909500
100PRKCA0.34012544
101PDGFRA0.33773666
102ERBB20.32305957
103CAMK2D0.32215655
104BMX0.31843747
105PRKCB0.31279310
106PRKD20.31018486
107ROCK10.30602880
108MAPK80.30212320
109PRKCE0.29565537
110CSNK1E0.29449671
111FGFR20.29096276
112PRKG10.29010541
113RPS6KA20.28718856
114CSNK1D0.28397213
115TESK10.27259967
116MAPKAPK50.26830868

Predicted pathways (KEGG)

RankGene SetZ-score
1Synaptic vesicle cycle_Homo sapiens_hsa047213.23414113
2Nicotine addiction_Homo sapiens_hsa050333.16688372
3Olfactory transduction_Homo sapiens_hsa047403.14051219
4Circadian entrainment_Homo sapiens_hsa047132.68334280
5GABAergic synapse_Homo sapiens_hsa047272.66523452
6Long-term potentiation_Homo sapiens_hsa047202.58667971
7Glutamatergic synapse_Homo sapiens_hsa047242.53732914
8Morphine addiction_Homo sapiens_hsa050322.49005907
9Amphetamine addiction_Homo sapiens_hsa050312.42498026
10Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.41756274
11Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.30799407
12Nitrogen metabolism_Homo sapiens_hsa009102.23681842
13Salivary secretion_Homo sapiens_hsa049702.16886541
14* Dopaminergic synapse_Homo sapiens_hsa047282.05838136
15Insulin secretion_Homo sapiens_hsa049112.03697797
16Gastric acid secretion_Homo sapiens_hsa049712.01007080
17Cholinergic synapse_Homo sapiens_hsa047251.99676561
18Aldosterone synthesis and secretion_Homo sapiens_hsa049251.94193479
19Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.77445570
20Cocaine addiction_Homo sapiens_hsa050301.74790076
21Oxytocin signaling pathway_Homo sapiens_hsa049211.67561944
22Renin secretion_Homo sapiens_hsa049241.61159347
23Vitamin B6 metabolism_Homo sapiens_hsa007501.55700870
24Calcium signaling pathway_Homo sapiens_hsa040201.54553062
25GnRH signaling pathway_Homo sapiens_hsa049121.52479650
26Long-term depression_Homo sapiens_hsa047301.51523352
27Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.47462617
28Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.46990883
29Taste transduction_Homo sapiens_hsa047421.45716406
30Serotonergic synapse_Homo sapiens_hsa047261.38971369
31Gap junction_Homo sapiens_hsa045401.37159175
32Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.35600915
33Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.34999503
34cAMP signaling pathway_Homo sapiens_hsa040241.30225713
35Glioma_Homo sapiens_hsa052141.26463770
36Type II diabetes mellitus_Homo sapiens_hsa049301.25903848
37Phosphatidylinositol signaling system_Homo sapiens_hsa040701.20778666
38Estrogen signaling pathway_Homo sapiens_hsa049151.16911906
39ErbB signaling pathway_Homo sapiens_hsa040121.04401000
40Melanogenesis_Homo sapiens_hsa049161.00949052
41cGMP-PKG signaling pathway_Homo sapiens_hsa040221.00062874
42Phospholipase D signaling pathway_Homo sapiens_hsa040720.98092087
43Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.94844938
44Collecting duct acid secretion_Homo sapiens_hsa049660.92097310
45Oocyte meiosis_Homo sapiens_hsa041140.91641055
46Dorso-ventral axis formation_Homo sapiens_hsa043200.91229844
47Vascular smooth muscle contraction_Homo sapiens_hsa042700.91106510
48Axon guidance_Homo sapiens_hsa043600.89952519
49Pancreatic secretion_Homo sapiens_hsa049720.85675019
50Thyroid hormone synthesis_Homo sapiens_hsa049180.83031898
51Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.82019262
52Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.78747362
53Neurotrophin signaling pathway_Homo sapiens_hsa047220.75407717
54Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.74822497
55Cardiac muscle contraction_Homo sapiens_hsa042600.74217268
56Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.73924438
57Dilated cardiomyopathy_Homo sapiens_hsa054140.73339078
58Carbohydrate digestion and absorption_Homo sapiens_hsa049730.72439473
59Choline metabolism in cancer_Homo sapiens_hsa052310.71651067
60MAPK signaling pathway_Homo sapiens_hsa040100.70416613
61VEGF signaling pathway_Homo sapiens_hsa043700.69570733
62Bile secretion_Homo sapiens_hsa049760.67634948
63Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.67575754
64Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.65184075
65Thyroid hormone signaling pathway_Homo sapiens_hsa049190.64657850
66Rap1 signaling pathway_Homo sapiens_hsa040150.64617320
67mTOR signaling pathway_Homo sapiens_hsa041500.63681609
68Non-small cell lung cancer_Homo sapiens_hsa052230.60516702
69Type I diabetes mellitus_Homo sapiens_hsa049400.59884859
70* Endocytosis_Homo sapiens_hsa041440.59068825
71Vibrio cholerae infection_Homo sapiens_hsa051100.58777874
72Sphingolipid signaling pathway_Homo sapiens_hsa040710.57928472
73Glucagon signaling pathway_Homo sapiens_hsa049220.56201473
74Ras signaling pathway_Homo sapiens_hsa040140.55097724
75Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.53854640
76Alcoholism_Homo sapiens_hsa050340.53510291
77Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.52336293
78Phototransduction_Homo sapiens_hsa047440.52172448
79Inositol phosphate metabolism_Homo sapiens_hsa005620.51578476
80Endometrial cancer_Homo sapiens_hsa052130.50374425
81Longevity regulating pathway - mammal_Homo sapiens_hsa042110.47758911
82Prion diseases_Homo sapiens_hsa050200.47458877
83Chemokine signaling pathway_Homo sapiens_hsa040620.46242141
84Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.45540785
85Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.44744921
86Insulin signaling pathway_Homo sapiens_hsa049100.44355564
87Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.43716823
88Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.42817661
89Arginine and proline metabolism_Homo sapiens_hsa003300.42692402
90Arginine biosynthesis_Homo sapiens_hsa002200.42115756
91Renal cell carcinoma_Homo sapiens_hsa052110.39215598
92Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.38868412
93Circadian rhythm_Homo sapiens_hsa047100.36132622
94Fatty acid biosynthesis_Homo sapiens_hsa000610.35672518
95Mineral absorption_Homo sapiens_hsa049780.34723886
96Ovarian steroidogenesis_Homo sapiens_hsa049130.34622021
97Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.34129048
98Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.32993746
99Histidine metabolism_Homo sapiens_hsa003400.32950889
100SNARE interactions in vesicular transport_Homo sapiens_hsa041300.32590998
101Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.32254444
102Platelet activation_Homo sapiens_hsa046110.32028692
103Wnt signaling pathway_Homo sapiens_hsa043100.31837657
104African trypanosomiasis_Homo sapiens_hsa051430.31721190
105beta-Alanine metabolism_Homo sapiens_hsa004100.29442487
106Alzheimers disease_Homo sapiens_hsa050100.29383079
107Glycerophospholipid metabolism_Homo sapiens_hsa005640.29049343
108AMPK signaling pathway_Homo sapiens_hsa041520.26114522
109Tight junction_Homo sapiens_hsa045300.25838426
110Hippo signaling pathway_Homo sapiens_hsa043900.19867189
111Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.15891921

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