KIF1B

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 motor protein that transports mitochondria and synaptic vesicle precursors. Mutations in this gene cause Charcot-Marie-Tooth disease, type 2A1. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)4.84085592
2synaptic vesicle maturation (GO:0016188)4.75553515
3locomotory exploration behavior (GO:0035641)4.56508634
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.51855725
5central nervous system myelination (GO:0022010)4.48802388
6axon ensheathment in central nervous system (GO:0032291)4.48802388
7positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.47309916
8neuron cell-cell adhesion (GO:0007158)4.40802235
9vocalization behavior (GO:0071625)4.36511882
10neuronal action potential propagation (GO:0019227)4.29659993
11pyrimidine nucleobase catabolic process (GO:0006208)4.23887953
12synaptic vesicle exocytosis (GO:0016079)4.21297064
13glutamate secretion (GO:0014047)4.14873499
14regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.11433366
15regulation of synaptic vesicle exocytosis (GO:2000300)4.09246128
16ionotropic glutamate receptor signaling pathway (GO:0035235)3.99254594
17protein localization to synapse (GO:0035418)3.94694135
18layer formation in cerebral cortex (GO:0021819)3.82502224
19gamma-aminobutyric acid transport (GO:0015812)3.79770252
20dendritic spine morphogenesis (GO:0060997)3.73566355
21regulation of glutamate receptor signaling pathway (GO:1900449)3.72620203
22glutamate receptor signaling pathway (GO:0007215)3.69341626
23presynaptic membrane organization (GO:0097090)3.60349738
24neuron recognition (GO:0008038)3.58884720
25presynaptic membrane assembly (GO:0097105)3.57437047
26regulation of neuronal synaptic plasticity (GO:0048168)3.57280073
27regulation of synaptic vesicle transport (GO:1902803)3.55531966
28synaptic transmission, glutamatergic (GO:0035249)3.55070505
29exploration behavior (GO:0035640)3.52490542
30neurotransmitter secretion (GO:0007269)3.49419660
31transmission of nerve impulse (GO:0019226)3.45601009
32membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.43954376
33regulation of long-term neuronal synaptic plasticity (GO:0048169)3.42514778
34cellular potassium ion homeostasis (GO:0030007)3.41274321
35L-amino acid import (GO:0043092)3.40155329
36axonal fasciculation (GO:0007413)3.39572344
37nucleobase catabolic process (GO:0046113)3.37008912
38synaptic vesicle docking involved in exocytosis (GO:0016081)3.36728436
39dendrite morphogenesis (GO:0048813)3.35810323
40positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.35464920
41* neuron-neuron synaptic transmission (GO:0007270)3.30001396
42cell communication by electrical coupling (GO:0010644)3.29384063
43cerebellar granule cell differentiation (GO:0021707)3.24036531
44regulation of synapse structural plasticity (GO:0051823)3.23631852
45sarcoplasmic reticulum calcium ion transport (GO:0070296)3.22811401
46regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.20701974
47neurotransmitter-gated ion channel clustering (GO:0072578)3.20480357
48central nervous system projection neuron axonogenesis (GO:0021952)3.19743549
49long-term memory (GO:0007616)3.18753371
50adult walking behavior (GO:0007628)3.16397007
51regulation of excitatory postsynaptic membrane potential (GO:0060079)3.15458371
52negative regulation of synaptic transmission, GABAergic (GO:0032229)3.14245334
53neuronal ion channel clustering (GO:0045161)3.13883596
54gamma-aminobutyric acid signaling pathway (GO:0007214)3.13185552
55glycine transport (GO:0015816)3.10138424
56regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.08565982
57negative regulation of neurotransmitter transport (GO:0051589)3.08092938
58cerebellar Purkinje cell differentiation (GO:0021702)3.07906464
59regulation of dendritic spine morphogenesis (GO:0061001)3.07133725
60positive regulation of membrane potential (GO:0045838)3.06840656
61neurotransmitter transport (GO:0006836)3.06265310
62G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.04201304
63regulation of postsynaptic membrane potential (GO:0060078)3.03479494
64neuromuscular process controlling balance (GO:0050885)3.00198634
65sodium ion export (GO:0071436)2.99882967
66cell migration in hindbrain (GO:0021535)2.95302946
67positive regulation of dendritic spine morphogenesis (GO:0061003)2.94646679
68auditory behavior (GO:0031223)2.91493302
69regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.90682934
70proline transport (GO:0015824)2.90144981
71positive regulation of dendritic spine development (GO:0060999)2.89992786
72postsynaptic membrane organization (GO:0001941)2.89215254
73establishment of nucleus localization (GO:0040023)2.88795259
74membrane hyperpolarization (GO:0060081)2.88731481
75regulation of synaptic plasticity (GO:0048167)2.86768667
76regulation of neurotransmitter secretion (GO:0046928)2.86218812
77regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)2.84718058
78startle response (GO:0001964)2.83806789
79regulation of synaptic transmission, glutamatergic (GO:0051966)2.83236284
80regulation of voltage-gated calcium channel activity (GO:1901385)2.82891690
81membrane depolarization during action potential (GO:0086010)2.82700473
82negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.81662744
83cerebral cortex radially oriented cell migration (GO:0021799)2.81467184
84potassium ion homeostasis (GO:0055075)2.81417597
85myelination (GO:0042552)2.81306582
86regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.80905839
87activation of protein kinase A activity (GO:0034199)2.80744653
88synaptic vesicle endocytosis (GO:0048488)2.80525728
89negative regulation of neurotransmitter secretion (GO:0046929)2.79991662
90synapse assembly (GO:0007416)2.79901798
91cellular sodium ion homeostasis (GO:0006883)2.78775106
92nerve growth factor signaling pathway (GO:0038180)2.78538431
93positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.78335939
94long-term synaptic potentiation (GO:0060291)2.77739711
95axon ensheathment (GO:0008366)2.77524459
96ensheathment of neurons (GO:0007272)2.77524459
97mating behavior (GO:0007617)2.77497271
98positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)2.77296942
99neuromuscular process controlling posture (GO:0050884)2.76927113
100mechanosensory behavior (GO:0007638)2.76886673
101regulation of neurotransmitter levels (GO:0001505)2.76393708
102response to auditory stimulus (GO:0010996)2.75865235
103negative regulation of cytosolic calcium ion concentration (GO:0051481)2.75619748
104long-chain fatty acid biosynthetic process (GO:0042759)2.75424714
105membrane depolarization (GO:0051899)2.75052096
106regulation of synapse maturation (GO:0090128)2.74915829
107membrane assembly (GO:0071709)2.74285236
108regulation of vesicle fusion (GO:0031338)2.73583203
109potassium ion import (GO:0010107)2.72178586
110positive regulation of synapse assembly (GO:0051965)2.72075240
111cell communication involved in cardiac conduction (GO:0086065)2.71807842
112cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.71533059
113regulation of dendritic spine development (GO:0060998)2.70741798
114vesicle transport along microtubule (GO:0047496)2.69604584
115positive regulation of potassium ion transmembrane transport (GO:1901381)2.67927517
116innervation (GO:0060384)2.67494554
117synapse organization (GO:0050808)2.67444632
118regulation of cell communication by electrical coupling (GO:0010649)2.67293157
119amino acid import (GO:0043090)2.66931507
120regulation of neurotransmitter transport (GO:0051588)2.66588238
121positive regulation of synaptic transmission, GABAergic (GO:0032230)2.66001784
122positive regulation of synapse maturation (GO:0090129)2.64963997
123apical protein localization (GO:0045176)2.64957914
124axon extension (GO:0048675)2.61865334
125neuromuscular process (GO:0050905)2.61797482
126* neuromuscular synaptic transmission (GO:0007274)2.59616133
127suckling behavior (GO:0001967)2.58667542

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human4.93252397
2GBX2_23144817_ChIP-Seq_PC3_Human3.53256998
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.86630372
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.82789445
5JARID2_20064375_ChIP-Seq_MESCs_Mouse2.77385082
6EZH2_18974828_ChIP-Seq_MESCs_Mouse2.50513148
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.50513148
8MTF2_20144788_ChIP-Seq_MESCs_Mouse2.37101377
9JARID2_20075857_ChIP-Seq_MESCs_Mouse2.33973288
10SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.33903005
11SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.32214160
12SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.32110763
13EZH2_27304074_Chip-Seq_ESCs_Mouse2.31774713
14SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.30127211
15DROSHA_22980978_ChIP-Seq_HELA_Human2.28454174
16REST_21632747_ChIP-Seq_MESCs_Mouse2.24361774
17EED_16625203_ChIP-ChIP_MESCs_Mouse2.12714796
18EZH2_27294783_Chip-Seq_ESCs_Mouse2.11055150
19SUZ12_27294783_Chip-Seq_ESCs_Mouse2.06027128
20RARB_27405468_Chip-Seq_BRAIN_Mouse2.05266267
21RBPJ_22232070_ChIP-Seq_NCS_Mouse2.03554883
22RNF2_27304074_Chip-Seq_ESCs_Mouse2.02412406
23AR_21572438_ChIP-Seq_LNCaP_Human1.97728238
24ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.85534236
25GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.82924369
26REST_18959480_ChIP-ChIP_MESCs_Mouse1.80155190
27TAF15_26573619_Chip-Seq_HEK293_Human1.79749686
28CTBP2_25329375_ChIP-Seq_LNCAP_Human1.66647290
29SMAD4_21799915_ChIP-Seq_A2780_Human1.58881022
30CTBP1_25329375_ChIP-Seq_LNCAP_Human1.58868253
31* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.57674442
32* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.57254221
33PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.56925015
34ZFP57_27257070_Chip-Seq_ESCs_Mouse1.53162918
35NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.52186992
36CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.51990649
37RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.51562350
38EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.46325540
39MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.46069512
40* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.44419661
41CDX2_19796622_ChIP-Seq_MESCs_Mouse1.43945252
42EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.38024928
43SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.37431695
44SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.37364384
45P300_19829295_ChIP-Seq_ESCs_Human1.36351469
46SMAD3_21741376_ChIP-Seq_EPCs_Human1.36139953
47IKZF1_21737484_ChIP-ChIP_HCT116_Human1.34827746
48RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.32991473
49PIAS1_25552417_ChIP-Seq_VCAP_Human1.32726607
50* STAT3_23295773_ChIP-Seq_U87_Human1.31562798
51PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.30390031
52CBX2_27304074_Chip-Seq_ESCs_Mouse1.29592398
53SOX2_21211035_ChIP-Seq_LN229_Gbm1.28657407
54ERG_21242973_ChIP-ChIP_JURKAT_Human1.27394532
55NR3C1_23031785_ChIP-Seq_PC12_Mouse1.27119638
56ZNF274_21170338_ChIP-Seq_K562_Hela1.24337432
57ZNF217_24962896_ChIP-Seq_MCF-7_Human1.22445481
58MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.21440894
59TOP2B_26459242_ChIP-Seq_MCF-7_Human1.21178458
60POU3F2_20337985_ChIP-ChIP_501MEL_Human1.20563437
61AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.20262041
62WT1_25993318_ChIP-Seq_PODOCYTE_Human1.19591764
63RING1B_27294783_Chip-Seq_ESCs_Mouse1.19485241
64CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.18662138
65TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.18575847
66ARNT_22903824_ChIP-Seq_MCF-7_Human1.17990975
67GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.16703913
68AR_25329375_ChIP-Seq_VCAP_Human1.16062171
69LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.15884701
70AHR_22903824_ChIP-Seq_MCF-7_Human1.15487496
71AR_19668381_ChIP-Seq_PC3_Human1.14190915
72* OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.12018365
73* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.11689514
74* TCF4_23295773_ChIP-Seq_U87_Human1.11657604
75STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.11490093
76BMI1_23680149_ChIP-Seq_NPCS_Mouse1.11405505
77IGF1R_20145208_ChIP-Seq_DFB_Human1.11357809
78P53_22127205_ChIP-Seq_FIBROBLAST_Human1.10080903
79TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.09950859
80SMAD_19615063_ChIP-ChIP_OVARY_Human1.09217885
81ER_23166858_ChIP-Seq_MCF-7_Human1.09208325
82SOX9_26525672_Chip-Seq_HEART_Mouse1.08346201
83VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.08091305
84RING1B_27294783_Chip-Seq_NPCs_Mouse1.07360217
85TP53_16413492_ChIP-PET_HCT116_Human1.06750687
86TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.06693030
87TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.06505361
88* CTNNB1_20460455_ChIP-Seq_HCT116_Human1.06497523
89ISL1_27105846_Chip-Seq_CPCs_Mouse1.05148973
90* KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.03102403
91NR3C1_21868756_ChIP-Seq_MCF10A_Human1.02835785
92MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.01417485
93GATA1_26923725_Chip-Seq_HPCs_Mouse1.00860417
94TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.00802437
95CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.00078634
96RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.99569022
97ZFP281_18757296_ChIP-ChIP_E14_Mouse0.99100751
98RUNX2_22187159_ChIP-Seq_PCA_Human0.99038198
99YAP1_20516196_ChIP-Seq_MESCs_Mouse0.98888288
100EP300_21415370_ChIP-Seq_HL-1_Mouse0.98805264
101PRDM14_20953172_ChIP-Seq_ESCs_Human0.98106179
102SMAD4_21741376_ChIP-Seq_HESCs_Human0.97468594
103ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.97294045
104RNF2_27304074_Chip-Seq_NSC_Mouse0.97264826
105ZFP281_27345836_Chip-Seq_ESCs_Mouse0.96532536
106WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.96452569
107* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.96294014
108VDR_22108803_ChIP-Seq_LS180_Human0.95009454
109* TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.92651539
110DNAJC2_21179169_ChIP-ChIP_NT2_Human0.91153412
111SMAD3_21741376_ChIP-Seq_ESCs_Human0.90114796
112FUS_26573619_Chip-Seq_HEK293_Human0.89862789
113TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.89838379
114POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.89838379
115NANOG_18555785_Chip-Seq_ESCs_Mouse0.89760040
116SMAD3_21741376_ChIP-Seq_HESCs_Human0.89177838
117PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.89116542
118* KDM2B_26808549_Chip-Seq_K562_Human0.88093358

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.41234533
2MP0003880_abnormal_central_pattern4.41755727
3MP0003635_abnormal_synaptic_transmissio3.64858653
4* MP0004270_analgesia3.60634802
5MP0009745_abnormal_behavioral_response3.03956432
6MP0009046_muscle_twitch3.02730732
7MP0002064_seizures2.96670873
8MP0005423_abnormal_somatic_nervous2.96415856
9MP0002063_abnormal_learning/memory/cond2.88043877
10MP0002272_abnormal_nervous_system2.70595303
11MP0001486_abnormal_startle_reflex2.70012170
12MP0001968_abnormal_touch/_nociception2.65342628
13* MP0002734_abnormal_mechanical_nocicepti2.57878920
14MP0002572_abnormal_emotion/affect_behav2.48875995
15MP0002735_abnormal_chemical_nociception2.31693017
16MP0003329_amyloid_beta_deposits2.28684512
17MP0000920_abnormal_myelination2.10175190
18MP0002822_catalepsy2.08865136
19* MP0000778_abnormal_nervous_system2.07382295
20MP0001440_abnormal_grooming_behavior2.05835824
21MP0002733_abnormal_thermal_nociception2.01242540
22MP0002736_abnormal_nociception_after1.98050696
23MP0004885_abnormal_endolymph1.97831269
24MP0002067_abnormal_sensory_capabilities1.97662903
25MP0001970_abnormal_pain_threshold1.92219822
26MP0008569_lethality_at_weaning1.89735762
27MP0001501_abnormal_sleep_pattern1.87816437
28MP0009780_abnormal_chondrocyte_physiolo1.87169759
29MP0000569_abnormal_digit_pigmentation1.80457870
30MP0004924_abnormal_behavior1.75201571
31MP0005386_behavior/neurological_phenoty1.75201571
32MP0002184_abnormal_innervation1.74820583
33MP0004858_abnormal_nervous_system1.69551461
34MP0003690_abnormal_glial_cell1.65835116
35* MP0000955_abnormal_spinal_cord1.63495372
36* MP0002882_abnormal_neuron_morphology1.56174740
37MP0002557_abnormal_social/conspecific_i1.55282110
38MP0004145_abnormal_muscle_electrophysio1.54973156
39MP0004142_abnormal_muscle_tone1.54748636
40MP0004742_abnormal_vestibular_system1.53067746
41MP0005551_abnormal_eye_electrophysiolog1.52563495
42* MP0004811_abnormal_neuron_physiology1.48578181
43MP0006276_abnormal_autonomic_nervous1.48202757
44MP0003633_abnormal_nervous_system1.46044705
45* MP0002066_abnormal_motor_capabilities/c1.45688108
46MP0002229_neurodegeneration1.41987838
47MP0003634_abnormal_glial_cell1.40293323
48MP0002638_abnormal_pupillary_reflex1.39142734
49MP0001529_abnormal_vocalization1.37747045
50MP0003631_nervous_system_phenotype1.33313235
51MP0001905_abnormal_dopamine_level1.31655997
52MP0000749_muscle_degeneration1.27794711
53MP0005646_abnormal_pituitary_gland1.27677735
54MP0001984_abnormal_olfaction1.26570916
55MP0000566_synostosis1.25478231
56MP0001502_abnormal_circadian_rhythm1.25360057
57MP0005409_darkened_coat_color1.24764161
58MP0003121_genomic_imprinting1.21803900
59MP0003632_abnormal_nervous_system1.21623284
60MP0000751_myopathy1.20040647
61MP0002909_abnormal_adrenal_gland1.19243682
62MP0005645_abnormal_hypothalamus_physiol1.18258456
63MP0005187_abnormal_penis_morphology1.16731996
64MP0001485_abnormal_pinna_reflex1.12156247
65* MP0002152_abnormal_brain_morphology1.11042182
66MP0003879_abnormal_hair_cell1.05937211
67MP0000604_amyloidosis1.04693432
68MP0001299_abnormal_eye_distance/1.03618829
69MP0002752_abnormal_somatic_nervous1.01460630
70MP0003646_muscle_fatigue1.01001370
71MP0001963_abnormal_hearing_physiology0.98079434
72MP0001177_atelectasis0.97303968
73MP0004043_abnormal_pH_regulation0.91251125
74MP0002837_dystrophic_cardiac_calcinosis0.88325600
75MP0003787_abnormal_imprinting0.87977927
76MP0004085_abnormal_heartbeat0.87788172
77MP0005171_absent_coat_pigmentation0.87006023
78MP0003137_abnormal_impulse_conducting0.86741930
79MP0000579_abnormal_nail_morphology0.86638618
80MP0003950_abnormal_plasma_membrane0.86256734
81MP0000534_abnormal_ureter_morphology0.85548638
82MP0003123_paternal_imprinting0.85050578
83MP0002069_abnormal_eating/drinking_beha0.84062394
84MP0005248_abnormal_Harderian_gland0.83875708
85MP0001188_hyperpigmentation0.83338324
86MP0004087_abnormal_muscle_fiber0.83330726
87MP0000537_abnormal_urethra_morphology0.82698643
88MP0002090_abnormal_vision0.82530901
89MP0002106_abnormal_muscle_physiology0.82235102
90MP0006072_abnormal_retinal_apoptosis0.82188359
91MP0005253_abnormal_eye_physiology0.79014161
92MP0004215_abnormal_myocardial_fiber0.77959572
93MP0003938_abnormal_ear_development0.76197811
94MP0008874_decreased_physiological_sensi0.74641762
95MP0001346_abnormal_lacrimal_gland0.74603138
96MP0005369_muscle_phenotype0.74378037
97* MP0002081_perinatal_lethality0.74184290
98MP0000631_abnormal_neuroendocrine_gland0.73934469
99MP0000013_abnormal_adipose_tissue0.73781406
100MP0005535_abnormal_body_temperature0.72497135
101MP0000759_abnormal_skeletal_muscle0.72345713
102MP0005623_abnormal_meninges_morphology0.71301324
103MP0010769_abnormal_survival0.69039117
104MP0008872_abnormal_physiological_respon0.69022128
105MP0003122_maternal_imprinting0.68161591
106MP0005394_taste/olfaction_phenotype0.68090443
107MP0005499_abnormal_olfactory_system0.68090443
108MP0005195_abnormal_posterior_eye0.63720880
109MP0003136_yellow_coat_color0.62415975
110MP0004484_altered_response_of0.60192140
111MP0003283_abnormal_digestive_organ0.60150158
112MP0003861_abnormal_nervous_system0.59760055
113MP0004036_abnormal_muscle_relaxation0.59688127
114MP0000026_abnormal_inner_ear0.59114242
115MP0004130_abnormal_muscle_cell0.58853108
116MP0004233_abnormal_muscle_weight0.57381782
117MP0010386_abnormal_urinary_bladder0.56726219
118MP0005620_abnormal_muscle_contractility0.55765952
119* MP0000747_muscle_weakness0.55680178
120MP0001348_abnormal_lacrimal_gland0.55340813
121* MP0001943_abnormal_respiration0.54516209
122MP0005410_abnormal_fertilization0.54278117

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)6.00590402
2Myokymia (HP:0002411)5.81243024
3Focal seizures (HP:0007359)4.70719786
4Supranuclear gaze palsy (HP:0000605)4.20798858
5Neurofibrillary tangles (HP:0002185)4.19321903
6Action tremor (HP:0002345)4.18855491
7Epileptic encephalopathy (HP:0200134)4.07844644
8Abnormality of the corticospinal tract (HP:0002492)3.95115643
9Progressive cerebellar ataxia (HP:0002073)3.84748284
10Atonic seizures (HP:0010819)3.79398249
11Visual hallucinations (HP:0002367)3.77176182
12Ankle clonus (HP:0011448)3.73476687
13Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)3.72499124
14Degeneration of the lateral corticospinal tracts (HP:0002314)3.72499124
15Insidious onset (HP:0003587)3.66162429
16Termporal pattern (HP:0011008)3.66162429
17Cerebral inclusion bodies (HP:0100314)3.55804892
18Dysmetria (HP:0001310)3.47464773
19Febrile seizures (HP:0002373)3.42673298
20Spastic gait (HP:0002064)3.37055510
21Broad-based gait (HP:0002136)3.28607739
22Absence seizures (HP:0002121)3.28460418
23Muscle fiber inclusion bodies (HP:0100299)3.23169013
24Intention tremor (HP:0002080)3.20367670
25Scanning speech (HP:0002168)3.19183251
26Dysdiadochokinesis (HP:0002075)3.18149492
27Generalized tonic-clonic seizures (HP:0002069)3.13206804
28Dialeptic seizures (HP:0011146)3.12609897
29Nemaline bodies (HP:0003798)3.08924210
30Gaze-evoked nystagmus (HP:0000640)3.08830704
31Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)3.08729362
32Urinary bladder sphincter dysfunction (HP:0002839)3.02704701
33Exercise-induced muscle cramps (HP:0003710)3.01628810
34Hyperventilation (HP:0002883)3.01590901
35Truncal ataxia (HP:0002078)2.88881459
36Urinary urgency (HP:0000012)2.85504785
37Difficulty running (HP:0009046)2.79967667
38Impaired vibration sensation in the lower limbs (HP:0002166)2.78450599
39Poor eye contact (HP:0000817)2.70598413
40Lower limb muscle weakness (HP:0007340)2.66370394
41Postural instability (HP:0002172)2.60919773
42Peripheral hypomyelination (HP:0007182)2.60635436
43Drooling (HP:0002307)2.59050373
44Excessive salivation (HP:0003781)2.59050373
45Anxiety (HP:0000739)2.56858810
46Depression (HP:0000716)2.56591296
47Megalencephaly (HP:0001355)2.56552033
48Type 1 muscle fiber predominance (HP:0003803)2.55166415
49Hemiparesis (HP:0001269)2.53390123
50Mutism (HP:0002300)2.53320257
51Abnormal social behavior (HP:0012433)2.52480640
52Impaired social interactions (HP:0000735)2.52480640
53Abnormal eating behavior (HP:0100738)2.51913648
54Genetic anticipation (HP:0003743)2.43554797
55Aplasia involving bones of the extremities (HP:0009825)2.33708225
56Aplasia involving bones of the upper limbs (HP:0009823)2.33708225
57Aplasia of the phalanges of the hand (HP:0009802)2.33708225
58Diplopia (HP:0000651)2.32122685
59Abnormality of binocular vision (HP:0011514)2.32122685
60Progressive inability to walk (HP:0002505)2.31737971
61Akinesia (HP:0002304)2.27960580
62Abnormality of the lower motor neuron (HP:0002366)2.21733852
63Exercise-induced myalgia (HP:0003738)2.20148400
64Absent speech (HP:0001344)2.17837019
65Epileptiform EEG discharges (HP:0011182)2.17526660
66Amblyopia (HP:0000646)2.17259770
67Muscle hypertrophy of the lower extremities (HP:0008968)2.17008156
68Clonus (HP:0002169)2.16554545
69Myotonia (HP:0002486)2.13876673
70Blue irides (HP:0000635)2.13815125
71Fetal akinesia sequence (HP:0001989)2.13442763
72EEG with generalized epileptiform discharges (HP:0011198)2.13343256
73Hepatoblastoma (HP:0002884)2.10929778
74Retinal dysplasia (HP:0007973)2.10886423
75Torticollis (HP:0000473)2.10512843
76Bundle branch block (HP:0011710)2.10450850
77Hyporeflexia of lower limbs (HP:0002600)2.09854064
78Decreased number of large peripheral myelinated nerve fibers (HP:0003387)2.07292193
79Generalized myoclonic seizures (HP:0002123)2.07233039
80Calcaneovalgus deformity (HP:0001848)2.07049568
81Calf muscle hypertrophy (HP:0008981)2.06976420
82Obstructive sleep apnea (HP:0002870)2.06949474
83Distal arthrogryposis (HP:0005684)2.06861285
84Papilledema (HP:0001085)2.06683749
85Morphological abnormality of the pyramidal tract (HP:0002062)2.05522119
86Hypsarrhythmia (HP:0002521)2.05059764
87Abnormality of the ischium (HP:0003174)2.03658776
88Cutaneous finger syndactyly (HP:0010554)2.03311250
89Limb dystonia (HP:0002451)2.02238193
90Bronchomalacia (HP:0002780)2.02134858
91Neuronal loss in central nervous system (HP:0002529)1.99883299
92Sensory axonal neuropathy (HP:0003390)1.99229168
93Abnormality of the left ventricular outflow tract (HP:0011103)1.98570522
94Subaortic stenosis (HP:0001682)1.98570522
95Hemiplegia (HP:0002301)1.98487109
96* Onion bulb formation (HP:0003383)1.98142349
97Thickened helices (HP:0000391)1.97057457
98Frequent falls (HP:0002359)1.94115207
99Postural tremor (HP:0002174)1.92117640
100Impaired vibratory sensation (HP:0002495)1.91987318
101Bradykinesia (HP:0002067)1.91957546
102Sleep apnea (HP:0010535)1.91676847
103Impaired smooth pursuit (HP:0007772)1.90536134
104Abnormality of saccadic eye movements (HP:0000570)1.90243219
105Split foot (HP:0001839)1.88025053
106Agitation (HP:0000713)1.87140702
107Aqueductal stenosis (HP:0002410)1.86710657
108Turricephaly (HP:0000262)1.85958028
109Stereotypic behavior (HP:0000733)1.85751703
110Clumsiness (HP:0002312)1.85736924
111Gait ataxia (HP:0002066)1.85166209
112Central scotoma (HP:0000603)1.83920538
113Abnormality of the calf musculature (HP:0001430)1.83789182
114Vertebral arch anomaly (HP:0008438)1.83048057
115Focal dystonia (HP:0004373)1.82975948
116EMG: neuropathic changes (HP:0003445)1.82941900
117Cutaneous syndactyly (HP:0012725)1.82459895
118Abnormality of salivation (HP:0100755)1.79050947
119Spastic tetraparesis (HP:0001285)1.78061628
120Sudden death (HP:0001699)1.77958713
121Deformed tarsal bones (HP:0008119)1.75971062
122Insomnia (HP:0100785)1.75911456
123Cortical dysplasia (HP:0002539)1.75160101
124Psychosis (HP:0000709)1.72841417
125Papillary thyroid carcinoma (HP:0002895)1.72743148
126Alacrima (HP:0000522)1.72592727
127Prolonged QT interval (HP:0001657)1.72559865
128Polyphagia (HP:0002591)1.72549905
129Slow saccadic eye movements (HP:0000514)1.72518148
130Neonatal short-limb short stature (HP:0008921)1.72077572
131Morphological abnormality of the middle ear (HP:0008609)1.72052258
132Lower limb amyotrophy (HP:0007210)1.71903979
133Rapidly progressive (HP:0003678)1.71283567
134Inability to walk (HP:0002540)1.71017593
135Ulnar claw (HP:0001178)1.70919630
136Dysmetric saccades (HP:0000641)1.70639846
137Rigidity (HP:0002063)1.70490663
138Hypoplasia of the corpus callosum (HP:0002079)1.69589427
139Muscle fiber splitting (HP:0003555)1.68812732
140Rimmed vacuoles (HP:0003805)1.65059190
141Exotropia (HP:0000577)1.64160308
142Status epilepticus (HP:0002133)1.62036039
143EMG: myopathic abnormalities (HP:0003458)1.59496409

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MARK13.54566250
2NTRK33.49460248
3EPHA43.24050109
4MAP3K92.99662515
5TNIK2.64449020
6OBSCN2.56041781
7MAP3K42.55999593
8STK392.41666799
9NTRK12.23259972
10PAK62.22554108
11MINK12.21265300
12OXSR12.01960320
13MAP2K72.00597303
14NTRK21.98043806
15CASK1.96577293
16PNCK1.79744261
17DAPK21.76138321
18KSR21.69756727
19PHKG21.66621329
20PHKG11.66621329
21MAP2K41.55915637
22PRKD31.55728564
23CDK51.49608264
24MAPK131.40742809
25WNK11.40497450
26CDK191.40014675
27PRPF4B1.39734681
28UHMK11.38282151
29SGK4941.31379763
30SGK2231.31379763
31CAMKK11.27405102
32PKN11.26211479
33EPHB21.20126329
34FGFR21.19166869
35KSR11.15825947
36TYRO31.10279631
37CAMK2B1.09904108
38PAK31.07583533
39BCR1.07460360
40MAP3K21.06985232
41CAMK2A1.06090418
42CSNK1G21.03809615
43PRKCG1.02051623
44PLK21.01132803
45CAMK1G1.00743164
46RIPK41.00645166
47WNK40.99521554
48GRK50.98466457
49EPHA30.96396691
50WNK30.96218181
51MARK20.92384936
52CAMK1D0.91260951
53STK110.88686707
54RET0.88530687
55NEK60.88407351
56CDK140.86989110
57CAMK2D0.86784541
58MAPKAPK50.86419829
59PRKCH0.85846658
60CAMKK20.84418937
61CDK150.84220097
62CDK180.83257980
63STK380.83157307
64PINK10.81160250
65ROCK20.80704796
66LMTK20.79833779
67SIK20.78411046
68FES0.76607220
69EPHB10.75687550
70CSNK1A1L0.72765612
71CDK11A0.72007520
72SGK10.71633483
73MAP3K130.71094659
74CAMK2G0.70659159
75PRKCE0.70302485
76LIMK10.69990225
77LATS20.69376626
78TTN0.69151024
79ARAF0.68270474
80PDPK10.67127170
81CSNK1G30.67085009
82CAMK10.66568758
83MAP3K120.65561329
84MOS0.64610227
85CAMK40.63983372
86BRD40.63716378
87DYRK1A0.63625871
88SGK20.62986013
89FGR0.62670048
90SGK30.61841557
91* MAPK100.61057071
92PDGFRA0.59810451
93ICK0.59664342
94ERBB20.57896241
95FYN0.56576523
96MAPK120.56246385
97PDK10.55050326
98RIPK10.54873054
99PRKCZ0.51456855
100ROCK10.50318944
101PTK2B0.49891846
102DMPK0.49585259
103RPS6KA30.49254988
104CDC42BPA0.47096788
105DAPK10.46933695
106CCNB10.46391449
107PRKAA10.44529260
108DYRK20.44368464
109MAP3K70.44040799
110PRKG10.43727119
111ALK0.43504119
112MUSK0.42468367
113FER0.41765204
114CSNK1G10.41554989
115ERBB30.40797755
116DYRK1B0.40707732
117AKT30.40539076
118PRKD10.40224005
119MAP3K10.40051658
120CSNK1D0.38870011
121RPS6KB10.37279230
122PDGFRB0.34613149
123MKNK20.34547435
124MAPK150.33605518
125* GSK3B0.32995630
126PRKACB0.32701109
127FGFR10.32071645
128LATS10.31713271

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.14084639
2Synaptic vesicle cycle_Homo sapiens_hsa047212.61483580
3GABAergic synapse_Homo sapiens_hsa047272.60407520
4Glutamatergic synapse_Homo sapiens_hsa047242.49386007
5Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.45434083
6Circadian entrainment_Homo sapiens_hsa047132.42687035
7Morphine addiction_Homo sapiens_hsa050322.26821604
8Long-term potentiation_Homo sapiens_hsa047202.19409545
9Olfactory transduction_Homo sapiens_hsa047402.17540304
10Salivary secretion_Homo sapiens_hsa049701.98442652
11Amphetamine addiction_Homo sapiens_hsa050311.94732104
12Dopaminergic synapse_Homo sapiens_hsa047281.93772133
13Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.90614709
14Insulin secretion_Homo sapiens_hsa049111.75695038
15Cholinergic synapse_Homo sapiens_hsa047251.74539669
16Gastric acid secretion_Homo sapiens_hsa049711.73568599
17Long-term depression_Homo sapiens_hsa047301.72087135
18Serotonergic synapse_Homo sapiens_hsa047261.68179078
19Nitrogen metabolism_Homo sapiens_hsa009101.65762204
20Taste transduction_Homo sapiens_hsa047421.63176397
21Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.56956943
22Renin secretion_Homo sapiens_hsa049241.56709695
23Phototransduction_Homo sapiens_hsa047441.51949507
24Aldosterone synthesis and secretion_Homo sapiens_hsa049251.50936295
25Cocaine addiction_Homo sapiens_hsa050301.49822010
26Axon guidance_Homo sapiens_hsa043601.47496452
27Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.41947879
28Oxytocin signaling pathway_Homo sapiens_hsa049211.41786392
29Calcium signaling pathway_Homo sapiens_hsa040201.33767462
30Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.28932332
31Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.28318060
32Gap junction_Homo sapiens_hsa045401.25083751
33GnRH signaling pathway_Homo sapiens_hsa049121.22288766
34Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.22111695
35cAMP signaling pathway_Homo sapiens_hsa040241.18209335
36Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.15852966
37Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.12829706
38Type II diabetes mellitus_Homo sapiens_hsa049301.12391805
39Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.05235289
40ErbB signaling pathway_Homo sapiens_hsa040121.04448859
41Phosphatidylinositol signaling system_Homo sapiens_hsa040701.04401099
42Dorso-ventral axis formation_Homo sapiens_hsa043201.04142100
43Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.03414996
44Collecting duct acid secretion_Homo sapiens_hsa049661.02299304
45Cardiac muscle contraction_Homo sapiens_hsa042601.00261857
46Vascular smooth muscle contraction_Homo sapiens_hsa042700.97996618
47Estrogen signaling pathway_Homo sapiens_hsa049150.96463961
48Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.96295763
49cGMP-PKG signaling pathway_Homo sapiens_hsa040220.95695715
50Hippo signaling pathway_Homo sapiens_hsa043900.93350132
51Pancreatic secretion_Homo sapiens_hsa049720.92031433
52Melanogenesis_Homo sapiens_hsa049160.91219608
53Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.90293180
54Phospholipase D signaling pathway_Homo sapiens_hsa040720.89142311
55Glioma_Homo sapiens_hsa052140.85942312
56Dilated cardiomyopathy_Homo sapiens_hsa054140.85806266
57Hedgehog signaling pathway_Homo sapiens_hsa043400.82548495
58Butanoate metabolism_Homo sapiens_hsa006500.81842415
59Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.79695070
60Steroid biosynthesis_Homo sapiens_hsa001000.76048237
61Endometrial cancer_Homo sapiens_hsa052130.75570323
62Adherens junction_Homo sapiens_hsa045200.75460768
63Fatty acid elongation_Homo sapiens_hsa000620.75457050
64Ether lipid metabolism_Homo sapiens_hsa005650.72502580
65Choline metabolism in cancer_Homo sapiens_hsa052310.72389489
66Basal cell carcinoma_Homo sapiens_hsa052170.71450484
67Thyroid hormone synthesis_Homo sapiens_hsa049180.71432623
68Vibrio cholerae infection_Homo sapiens_hsa051100.71381037
69AMPK signaling pathway_Homo sapiens_hsa041520.68792998
70Renal cell carcinoma_Homo sapiens_hsa052110.67686520
71Bile secretion_Homo sapiens_hsa049760.66904149
72Ras signaling pathway_Homo sapiens_hsa040140.66414536
73MAPK signaling pathway_Homo sapiens_hsa040100.65303082
74Sphingolipid signaling pathway_Homo sapiens_hsa040710.64951814
75Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.64166284
76Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.63622699
77Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.60806315
78Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.59226586
79Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.58585474
80Longevity regulating pathway - mammal_Homo sapiens_hsa042110.56587846
81Fatty acid biosynthesis_Homo sapiens_hsa000610.56167973
82Ovarian steroidogenesis_Homo sapiens_hsa049130.55802831
83Carbohydrate digestion and absorption_Homo sapiens_hsa049730.54163462
84Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.54103269
85Endocytosis_Homo sapiens_hsa041440.53074387
86Colorectal cancer_Homo sapiens_hsa052100.52082152
87Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.51929428
88Glycerophospholipid metabolism_Homo sapiens_hsa005640.51001231
89Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.50013494
90Rap1 signaling pathway_Homo sapiens_hsa040150.49878766
91Inositol phosphate metabolism_Homo sapiens_hsa005620.48513251
92Oocyte meiosis_Homo sapiens_hsa041140.48178146
93Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.48029067
94Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.47011236
95Tight junction_Homo sapiens_hsa045300.46485491
96Arginine and proline metabolism_Homo sapiens_hsa003300.44577841
97Focal adhesion_Homo sapiens_hsa045100.43479761
98VEGF signaling pathway_Homo sapiens_hsa043700.42774529
99Circadian rhythm_Homo sapiens_hsa047100.42442662
100Prion diseases_Homo sapiens_hsa050200.41993547
101SNARE interactions in vesicular transport_Homo sapiens_hsa041300.41179426
102Protein digestion and absorption_Homo sapiens_hsa049740.41133460
103Wnt signaling pathway_Homo sapiens_hsa043100.39916850
104Alzheimers disease_Homo sapiens_hsa050100.39892257
105Notch signaling pathway_Homo sapiens_hsa043300.39468826
106Neurotrophin signaling pathway_Homo sapiens_hsa047220.39124686
107Glucagon signaling pathway_Homo sapiens_hsa049220.38048136
108Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.37789423
109Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.37554010
110Vitamin B6 metabolism_Homo sapiens_hsa007500.35987682
111Prolactin signaling pathway_Homo sapiens_hsa049170.35831632
112Alcoholism_Homo sapiens_hsa050340.35022924
113Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.34643930
114Thyroid hormone signaling pathway_Homo sapiens_hsa049190.34335608
115Insulin signaling pathway_Homo sapiens_hsa049100.33449095
116mTOR signaling pathway_Homo sapiens_hsa041500.33214284
117Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.32621857

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