TUBB3

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 class III member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is primarily expressed in neurons and may be involved in neurogenesis and axon guidance and maintenance. Mutations in this gene are the cause of congenital fibrosis of the extraocular muscles type 3. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1pyrimidine nucleobase catabolic process (GO:0006208)8.56841994
2nucleobase catabolic process (GO:0046113)6.79669781
3cell migration in hindbrain (GO:0021535)6.23968334
4negative regulation of microtubule polymerization (GO:0031115)5.93388642
5neuron cell-cell adhesion (GO:0007158)5.56532252
6neuron recognition (GO:0008038)4.89438171
7axonal fasciculation (GO:0007413)4.82761781
8vocalization behavior (GO:0071625)4.79165954
9regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.68922704
10central nervous system projection neuron axonogenesis (GO:0021952)4.46753128
11protein localization to synapse (GO:0035418)4.46469129
12layer formation in cerebral cortex (GO:0021819)4.40857035
13regulation of short-term neuronal synaptic plasticity (GO:0048172)4.40027582
14response to pheromone (GO:0019236)4.29401760
15synaptic vesicle exocytosis (GO:0016079)4.21836868
16dendrite morphogenesis (GO:0048813)4.18847855
17positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.06809094
18regulation of synapse structural plasticity (GO:0051823)4.04706383
19dendritic spine morphogenesis (GO:0060997)4.04047066
20neurofilament cytoskeleton organization (GO:0060052)4.03987180
21regulation of glutamate receptor signaling pathway (GO:1900449)3.97431886
22axon extension (GO:0048675)3.95645344
23regulation of synaptic vesicle exocytosis (GO:2000300)3.95199110
24establishment of mitochondrion localization (GO:0051654)3.94737578
25establishment of mitochondrion localization, microtubule-mediated (GO:0034643)3.85040327
26mitochondrion transport along microtubule (GO:0047497)3.85040327
27postsynaptic membrane organization (GO:0001941)3.82899029
28synaptic vesicle maturation (GO:0016188)3.82420942
29negative regulation of dendrite development (GO:2000171)3.80125800
30glutamate secretion (GO:0014047)3.72458488
31positive regulation of mitochondrial fission (GO:0090141)3.69396586
32behavioral response to nicotine (GO:0035095)3.59026738
33neuronal ion channel clustering (GO:0045161)3.58509392
34central nervous system neuron axonogenesis (GO:0021955)3.57787059
35positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.57330464
36regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.57101693
37positive regulation of dendritic spine morphogenesis (GO:0061003)3.54596466
38hippocampus development (GO:0021766)3.52496832
39calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)3.49253599
40exploration behavior (GO:0035640)3.49021716
41positive regulation of synapse assembly (GO:0051965)3.49018925
42substrate-independent telencephalic tangential migration (GO:0021826)3.48375014
43substrate-independent telencephalic tangential interneuron migration (GO:0021843)3.48375014
44presynaptic membrane organization (GO:0097090)3.45731248
45neuron projection extension (GO:1990138)3.44469775
46presynaptic membrane assembly (GO:0097105)3.43068343
47regulation of synaptic vesicle transport (GO:1902803)3.41003386
48neurotransmitter secretion (GO:0007269)3.40904468
49sympathetic nervous system development (GO:0048485)3.40703063
50regulation of NFAT protein import into nucleus (GO:0051532)3.40382623
51proline transport (GO:0015824)3.36458955
52negative regulation of axon guidance (GO:1902668)3.35817744
53regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.34673570
54auditory behavior (GO:0031223)3.33872750
55synaptic vesicle docking involved in exocytosis (GO:0016081)3.33824975
56regulation of microtubule polymerization (GO:0031113)3.31531075
57transmission of nerve impulse (GO:0019226)3.28100321
58dendrite development (GO:0016358)3.27176100
59synapse assembly (GO:0007416)3.26972617
60regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.26103926
61cerebellar Purkinje cell differentiation (GO:0021702)3.25764434
62olfactory bulb development (GO:0021772)3.23765101
63regulation of respiratory system process (GO:0044065)3.23624126
64ganglion development (GO:0061548)3.22920086
65neuron projection extension involved in neuron projection guidance (GO:1902284)3.13867687
66axon extension involved in axon guidance (GO:0048846)3.13867687
67locomotory exploration behavior (GO:0035641)3.13667205
68positive regulation of synapse maturation (GO:0090129)3.13485500
69cerebellum development (GO:0021549)3.13477851
70neuromuscular synaptic transmission (GO:0007274)3.09642267
71sequestering of actin monomers (GO:0042989)3.09292236
72dendritic spine organization (GO:0097061)3.07607866
73regulation of neuronal synaptic plasticity (GO:0048168)3.07420669
74positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.06586799
75synapse organization (GO:0050808)3.06063940
76ionotropic glutamate receptor signaling pathway (GO:0035235)3.05252279
77dopamine receptor signaling pathway (GO:0007212)3.04603578
78neurotransmitter-gated ion channel clustering (GO:0072578)3.04432523
79axon cargo transport (GO:0008088)3.03977329
80neuron migration (GO:0001764)3.03232985
81negative regulation of dendrite morphogenesis (GO:0050774)3.02970536
82regulation of axon extension (GO:0030516)3.02921242
83response to auditory stimulus (GO:0010996)3.02556315
84cerebral cortex radially oriented cell migration (GO:0021799)2.99884713
85regulation of axon guidance (GO:1902667)2.98225086
86regulation of respiratory gaseous exchange (GO:0043576)2.97844784
87synaptic vesicle endocytosis (GO:0048488)2.97323704
88regulation of synapse assembly (GO:0051963)2.97218730
89organelle transport along microtubule (GO:0072384)2.96514344
90negative regulation of synaptic transmission, GABAergic (GO:0032229)2.94698975
91regulation of extent of cell growth (GO:0061387)2.93457897
92adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)2.93035889
93negative regulation of axonogenesis (GO:0050771)2.93015957
94positive regulation of synaptic transmission, GABAergic (GO:0032230)2.92659871
95innervation (GO:0060384)2.90925793
96positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.90601520
97retinal ganglion cell axon guidance (GO:0031290)2.89995332
98regulation of cAMP-dependent protein kinase activity (GO:2000479)2.89021937
99detection of temperature stimulus involved in sensory perception (GO:0050961)2.88994534
100detection of temperature stimulus involved in sensory perception of pain (GO:0050965)2.88994534
101synaptic transmission, glutamatergic (GO:0035249)2.88679460
102spinal cord development (GO:0021510)2.86741130
103nervous system development (GO:0007399)2.84892831
104positive regulation of axon extension (GO:0045773)2.84850953
105regulation of dendritic spine morphogenesis (GO:0061001)2.84567891
106gamma-aminobutyric acid transport (GO:0015812)2.84178002
107regulation of neurotransmitter secretion (GO:0046928)2.83592220
108detection of temperature stimulus (GO:0016048)2.83487746
109glutamate receptor signaling pathway (GO:0007215)2.83246328
110regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.82572883
111neuronal action potential (GO:0019228)2.81125002
112adult walking behavior (GO:0007628)2.80840294
113glycosphingolipid biosynthetic process (GO:0006688)2.80389747
114axonogenesis (GO:0007409)2.80188088
115negative regulation of oligodendrocyte differentiation (GO:0048715)2.80124799
116membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.79673182
117negative regulation of axon extension (GO:0030517)2.79487994
118ephrin receptor signaling pathway (GO:0048013)2.79250942
119neuron-neuron synaptic transmission (GO:0007270)2.78515102
120negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.78095495
121forebrain neuron differentiation (GO:0021879)2.78090684
122mechanosensory behavior (GO:0007638)2.77876767
123regulation of synapse organization (GO:0050807)2.77771259
124regulation of collateral sprouting (GO:0048670)2.75530672
125cytoskeleton-dependent intracellular transport (GO:0030705)2.73835734
126cerebral cortex cell migration (GO:0021795)2.68918866
127regulation of synaptic transmission, glutamatergic (GO:0051966)2.66022066
128ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162.60477530
129negative regulation of axon extension involved in axon guidance (GO:0048843)2.58677526
130regulation of axonogenesis (GO:0050770)2.58498396

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.31299703
2GBX2_23144817_ChIP-Seq_PC3_Human3.41270569
3NR4A2_19515692_ChIP-ChIP_MN9D_Mouse3.29963397
4JARID2_20064375_ChIP-Seq_MESCs_Mouse2.94241510
5SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.93664224
6EZH2_27304074_Chip-Seq_ESCs_Mouse2.92287860
7TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.80093985
8* REST_21632747_ChIP-Seq_MESCs_Mouse2.73830236
9SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.69773422
10JARID2_20075857_ChIP-Seq_MESCs_Mouse2.60720220
11RNF2_18974828_ChIP-Seq_MESCs_Mouse2.57806247
12EZH2_18974828_ChIP-Seq_MESCs_Mouse2.57806247
13SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.47205123
14CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.42401192
15SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.37680559
16EZH2_27294783_Chip-Seq_ESCs_Mouse2.36051778
17HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.35245868
18SUZ12_27294783_Chip-Seq_ESCs_Mouse2.32962451
19SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.31631450
20EED_16625203_ChIP-ChIP_MESCs_Mouse2.26939762
21GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.26794978
22* REST_18959480_ChIP-ChIP_MESCs_Mouse2.24827562
23BMI1_23680149_ChIP-Seq_NPCS_Mouse2.21778451
24* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.20768726
25RNF2_27304074_Chip-Seq_ESCs_Mouse2.20034865
26TAF15_26573619_Chip-Seq_HEK293_Human2.18807582
27* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.08012709
28CBX2_27304074_Chip-Seq_ESCs_Mouse2.03184825
29IGF1R_20145208_ChIP-Seq_DFB_Human1.98636452
30CTBP2_25329375_ChIP-Seq_LNCAP_Human1.92751135
31RBPJ_22232070_ChIP-Seq_NCS_Mouse1.91133679
32RNF2_27304074_Chip-Seq_NSC_Mouse1.88244049
33ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.87091304
34PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.83115436
35DROSHA_22980978_ChIP-Seq_HELA_Human1.74639307
36* RARB_27405468_Chip-Seq_BRAIN_Mouse1.74206588
37AR_21572438_ChIP-Seq_LNCaP_Human1.73888523
38PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.72470732
39ZFP57_27257070_Chip-Seq_ESCs_Mouse1.72130497
40EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.69743517
41CTBP1_25329375_ChIP-Seq_LNCAP_Human1.64030868
42ZNF274_21170338_ChIP-Seq_K562_Hela1.62330851
43MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.59833012
44RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.54123108
45RING1B_27294783_Chip-Seq_ESCs_Mouse1.42589429
46P300_19829295_ChIP-Seq_ESCs_Human1.40390517
47* OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.39340333
48RING1B_27294783_Chip-Seq_NPCs_Mouse1.38909648
49TOP2B_26459242_ChIP-Seq_MCF-7_Human1.38368010
50ERG_21242973_ChIP-ChIP_JURKAT_Human1.38120706
51NR3C1_23031785_ChIP-Seq_PC12_Mouse1.33531920
52SMAD4_21799915_ChIP-Seq_A2780_Human1.32382102
53SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.30272461
54* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.30037119
55GATA1_26923725_Chip-Seq_HPCs_Mouse1.26101524
56IKZF1_21737484_ChIP-ChIP_HCT116_Human1.25244866
57* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.24021022
58SOX2_21211035_ChIP-Seq_LN229_Gbm1.22721039
59SMAD3_21741376_ChIP-Seq_EPCs_Human1.21994359
60POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.20811976
61TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.20811976
62TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.20166531
63* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.19587319
64SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.19137910
65CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.16722416
66SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.15232422
67P53_22127205_ChIP-Seq_FIBROBLAST_Human1.13664696
68AR_25329375_ChIP-Seq_VCAP_Human1.13348355
69IRF1_19129219_ChIP-ChIP_H3396_Human1.11193358
70SOX2_16153702_ChIP-ChIP_HESCs_Human1.10605617
71RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.10182126
72CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse1.07912722
73AHR_22903824_ChIP-Seq_MCF-7_Human1.06349788
74POU3F2_20337985_ChIP-ChIP_501MEL_Human1.06028224
75CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.05581452
76TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.04788677
77WT1_19549856_ChIP-ChIP_CCG9911_Human1.04090699
78VDR_22108803_ChIP-Seq_LS180_Human1.03289871
79KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.02891846
80TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.02026907
81ARNT_22903824_ChIP-Seq_MCF-7_Human1.01281033
82POU5F1_16153702_ChIP-ChIP_HESCs_Human1.00900638
83TP53_20018659_ChIP-ChIP_R1E_Mouse1.00312448
84POU5F1_18347094_ChIP-ChIP_MESCs_Mouse1.00175766
85DNAJC2_21179169_ChIP-ChIP_NT2_Human0.98808828
86AR_19668381_ChIP-Seq_PC3_Human0.98652661
87FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.97877685
88CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.97159887
89* SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.96634002
90TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.96071808
91PRDM14_20953172_ChIP-Seq_ESCs_Human0.96064222
92RUNX2_22187159_ChIP-Seq_PCA_Human0.95878896
93* YAP1_20516196_ChIP-Seq_MESCs_Mouse0.95353438
94BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.94708942
95JUN_21703547_ChIP-Seq_K562_Human0.94393341
96* SOX2_18358816_ChIP-ChIP_MESCs_Mouse0.93947468
97FUS_26573619_Chip-Seq_HEK293_Human0.92728470
98MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.92478167
99UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.92191149
100MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.91996213
101* EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.91983249
102PIAS1_25552417_ChIP-Seq_VCAP_Human0.91652208
103SALL1_21062744_ChIP-ChIP_HESCs_Human0.91389433
104STAT3_23295773_ChIP-Seq_U87_Human0.91309998
105SMAD3_21741376_ChIP-Seq_ESCs_Human0.89258550
106STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.88523014
107SOX2_18555785_ChIP-Seq_MESCs_Mouse0.87563297
108CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.87242811
109REST_19997604_ChIP-ChIP_NEURONS_Mouse0.86677857
110WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.86477280
111SOX9_26525672_Chip-Seq_HEART_Mouse0.86350795
112SMAD4_21741376_ChIP-Seq_HESCs_Human0.86349751
113ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.85388862
114ER_23166858_ChIP-Seq_MCF-7_Human0.85311523
115POU3F1_26484290_ChIP-Seq_ESCss_Mouse0.84927687
116ISL1_27105846_Chip-Seq_CPCs_Mouse0.84569569
117ELK4_26923725_Chip-Seq_MESODERM_Mouse0.84488537
118TET1_21490601_ChIP-Seq_MESCs_Mouse0.83951838
119* KDM2B_26808549_Chip-Seq_K562_Human0.83747292
120HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.82339486
121* CTCF_27219007_Chip-Seq_Bcells_Human0.81783234
122MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.81161958

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity4.20527830
2MP0003880_abnormal_central_pattern3.97493798
3MP0006276_abnormal_autonomic_nervous3.97067946
4MP0004270_analgesia3.77146360
5MP0005423_abnormal_somatic_nervous3.65483693
6MP0002735_abnormal_chemical_nociception3.16191746
7* MP0000778_abnormal_nervous_system3.04871116
8MP0001968_abnormal_touch/_nociception3.00315260
9MP0003635_abnormal_synaptic_transmissio2.99568317
10MP0002734_abnormal_mechanical_nocicepti2.89996227
11MP0002063_abnormal_learning/memory/cond2.73180921
12MP0002184_abnormal_innervation2.67312642
13MP0004858_abnormal_nervous_system2.49113616
14MP0002733_abnormal_thermal_nociception2.47303037
15MP0002736_abnormal_nociception_after2.37496206
16MP0009745_abnormal_behavioral_response2.28134845
17MP0001529_abnormal_vocalization2.26179221
18MP0002572_abnormal_emotion/affect_behav2.21651554
19MP0001970_abnormal_pain_threshold2.10356676
20MP0005394_taste/olfaction_phenotype2.09039055
21MP0005499_abnormal_olfactory_system2.09039055
22MP0002064_seizures2.05646305
23MP0005645_abnormal_hypothalamus_physiol2.05217121
24MP0004811_abnormal_neuron_physiology2.04508502
25MP0001984_abnormal_olfaction2.01218238
26MP0008789_abnormal_olfactory_epithelium1.97300304
27MP0002751_abnormal_autonomic_nervous1.90420401
28MP0002557_abnormal_social/conspecific_i1.90293306
29MP0009046_muscle_twitch1.87801286
30MP0001440_abnormal_grooming_behavior1.85227028
31MP0001486_abnormal_startle_reflex1.84370467
32MP0000955_abnormal_spinal_cord1.83408199
33MP0002272_abnormal_nervous_system1.81681064
34MP0002067_abnormal_sensory_capabilities1.80321126
35MP0003122_maternal_imprinting1.80320058
36MP0002653_abnormal_ependyma_morphology1.75133991
37MP0002822_catalepsy1.73645326
38MP0005386_behavior/neurological_phenoty1.72052866
39MP0004924_abnormal_behavior1.72052866
40MP0005646_abnormal_pituitary_gland1.66404119
41MP0000569_abnormal_digit_pigmentation1.59317354
42* MP0002882_abnormal_neuron_morphology1.58514603
43MP0001905_abnormal_dopamine_level1.49964020
44MP0010386_abnormal_urinary_bladder1.49681146
45MP0003787_abnormal_imprinting1.49272802
46MP0002638_abnormal_pupillary_reflex1.43674582
47MP0001986_abnormal_taste_sensitivity1.42752468
48* MP0002152_abnormal_brain_morphology1.33500363
49MP0001188_hyperpigmentation1.30094615
50MP0002066_abnormal_motor_capabilities/c1.26467055
51MP0004133_heterotaxia1.25663996
52MP0002102_abnormal_ear_morphology1.25276513
53MP0000631_abnormal_neuroendocrine_gland1.22550587
54* MP0003861_abnormal_nervous_system1.21961055
55MP0002909_abnormal_adrenal_gland1.17364185
56MP0000751_myopathy1.16770603
57* MP0002752_abnormal_somatic_nervous1.15334015
58MP0008569_lethality_at_weaning1.14502392
59MP0003329_amyloid_beta_deposits1.11146091
60MP0001501_abnormal_sleep_pattern1.09983671
61MP0000538_abnormal_urinary_bladder1.08268865
62MP0004742_abnormal_vestibular_system1.04336136
63MP0003121_genomic_imprinting1.00101312
64MP0004142_abnormal_muscle_tone0.99364527
65MP0003221_abnormal_cardiomyocyte_apopto0.96240551
66MP0002234_abnormal_pharynx_morphology0.96216672
67MP0000537_abnormal_urethra_morphology0.95677186
68MP0001502_abnormal_circadian_rhythm0.94571556
69MP0002069_abnormal_eating/drinking_beha0.93359313
70MP0005187_abnormal_penis_morphology0.92444112
71MP0005253_abnormal_eye_physiology0.89908884
72MP0006292_abnormal_olfactory_placode0.89294289
73MP0003890_abnormal_embryonic-extraembry0.88843406
74MP0003938_abnormal_ear_development0.87039297
75MP0004885_abnormal_endolymph0.84393882
76MP0005623_abnormal_meninges_morphology0.84011683
77MP0009780_abnormal_chondrocyte_physiolo0.80547510
78MP0003755_abnormal_palate_morphology0.80468291
79MP0000026_abnormal_inner_ear0.80007575
80MP0005257_abnormal_intraocular_pressure0.77652759
81MP0001963_abnormal_hearing_physiology0.75934396
82MP0003879_abnormal_hair_cell0.75530988
83MP0003315_abnormal_perineum_morphology0.74319433
84MP0005195_abnormal_posterior_eye0.74135670
85MP0006072_abnormal_retinal_apoptosis0.73408727
86MP0002229_neurodegeneration0.73034443
87MP0004085_abnormal_heartbeat0.72670262
88MP0003634_abnormal_glial_cell0.72194241
89MP0001177_atelectasis0.70406179
90* MP0002081_perinatal_lethality0.70349491
91MP0005551_abnormal_eye_electrophysiolog0.70230505
92MP0003937_abnormal_limbs/digits/tail_de0.70134552
93MP0000647_abnormal_sebaceous_gland0.70089203
94MP0009379_abnormal_foot_pigmentation0.69378445
95MP0000534_abnormal_ureter_morphology0.69259133
96MP0003631_nervous_system_phenotype0.68574973
97MP0003137_abnormal_impulse_conducting0.68466761
98MP0005391_vision/eye_phenotype0.68317375
99MP0001299_abnormal_eye_distance/0.68286526
100MP0003183_abnormal_peptide_metabolism0.67058912
101MP0000049_abnormal_middle_ear0.67022118
102MP0003942_abnormal_urinary_system0.65599564
103MP0000579_abnormal_nail_morphology0.65451062
104MP0008995_early_reproductive_senescence0.64231580
105MP0010770_preweaning_lethality0.63975961
106MP0002082_postnatal_lethality0.63975961
107MP0003633_abnormal_nervous_system0.62172888
108MP0001348_abnormal_lacrimal_gland0.61882861
109MP0010769_abnormal_survival0.61657526
110* MP0001943_abnormal_respiration0.61550112
111MP0002233_abnormal_nose_morphology0.61020863
112MP0003119_abnormal_digestive_system0.60403970
113MP0003385_abnormal_body_wall0.59509624
114MP0010768_mortality/aging0.58650766
115MP0000015_abnormal_ear_pigmentation0.56807796

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)5.51747180
2Limb dystonia (HP:0002451)4.42492300
3Focal motor seizures (HP:0011153)4.08844293
4Focal seizures (HP:0007359)3.98655750
5Failure to thrive in infancy (HP:0001531)3.97685363
6Polyphagia (HP:0002591)3.83864705
7Ankle clonus (HP:0011448)3.42325987
8Retinal dysplasia (HP:0007973)3.41345112
9Febrile seizures (HP:0002373)3.36031060
10Epileptic encephalopathy (HP:0200134)3.31767649
11Supranuclear gaze palsy (HP:0000605)3.31567916
12Lissencephaly (HP:0001339)3.30990114
13Hypothermia (HP:0002045)3.21717426
14Progressive cerebellar ataxia (HP:0002073)3.19189998
15Insidious onset (HP:0003587)3.15129953
16Termporal pattern (HP:0011008)3.15129953
17Abnormality of the corticospinal tract (HP:0002492)3.14364959
18Ulnar claw (HP:0001178)3.08021017
19Atonic seizures (HP:0010819)3.02702138
20Amyotrophic lateral sclerosis (HP:0007354)3.01528086
21Pheochromocytoma (HP:0002666)3.00228730
22Abnormal eating behavior (HP:0100738)2.97823684
23Visual hallucinations (HP:0002367)2.96522968
24Mutism (HP:0002300)2.86368914
25* Hypoplasia of the brainstem (HP:0002365)2.85341676
26* Aplasia/Hypoplasia of the brainstem (HP:0007362)2.85341676
27Abnormal hair whorl (HP:0010721)2.76971459
28Drooling (HP:0002307)2.76873587
29Excessive salivation (HP:0003781)2.76873587
30Urinary urgency (HP:0000012)2.76364497
31Neuroendocrine neoplasm (HP:0100634)2.70817503
32Pachygyria (HP:0001302)2.70493422
33Broad-based gait (HP:0002136)2.68614229
34Shoulder girdle muscle weakness (HP:0003547)2.52490396
35Action tremor (HP:0002345)2.52338785
36Hand muscle atrophy (HP:0009130)2.51626422
37Progressive inability to walk (HP:0002505)2.49642643
38Sleep apnea (HP:0010535)2.49321248
39Hyperventilation (HP:0002883)2.47961168
40Spastic gait (HP:0002064)2.46588509
41Esotropia (HP:0000565)2.45437721
42Gait imbalance (HP:0002141)2.45339680
43Abnormality of the labia minora (HP:0012880)2.45329686
44Akinesia (HP:0002304)2.44118632
45Congenital primary aphakia (HP:0007707)2.41727172
46Impaired vibration sensation in the lower limbs (HP:0002166)2.41284088
47Absence seizures (HP:0002121)2.38671911
48Nephrogenic diabetes insipidus (HP:0009806)2.36968815
49Abnormality of the hip-girdle musculature (HP:0001445)2.35038294
50Abnormality of the musculature of the pelvis (HP:0001469)2.35038294
51Urinary bladder sphincter dysfunction (HP:0002839)2.33243571
52EEG with generalized epileptiform discharges (HP:0011198)2.31462927
53Hypoventilation (HP:0002791)2.31216405
54Generalized tonic-clonic seizures (HP:0002069)2.30552370
55Cortical dysplasia (HP:0002539)2.30411182
56Agitation (HP:0000713)2.29940062
57Hypsarrhythmia (HP:0002521)2.29901352
58Morphological abnormality of the pyramidal tract (HP:0002062)2.29075385
59Epileptiform EEG discharges (HP:0011182)2.28379836
60Poor suck (HP:0002033)2.26786859
61Protruding tongue (HP:0010808)2.26211474
62Abnormality of pain sensation (HP:0010832)2.24481977
63Impaired pain sensation (HP:0007328)2.24481977
64Poor eye contact (HP:0000817)2.22416703
65Truncal ataxia (HP:0002078)2.20317964
66Medial flaring of the eyebrow (HP:0010747)2.18559501
67Dialeptic seizures (HP:0011146)2.16609793
68Inability to walk (HP:0002540)2.15969759
69Fetal akinesia sequence (HP:0001989)2.14701267
70Lower limb muscle weakness (HP:0007340)2.14585786
71Vaginal atresia (HP:0000148)2.14319678
72Peripheral hypomyelination (HP:0007182)2.14185719
73Torticollis (HP:0000473)2.12781360
74Genital tract atresia (HP:0001827)2.08932577
75* Polymicrogyria (HP:0002126)2.08597682
76Hyperthyroidism (HP:0000836)1.98549748
77Nasal speech (HP:0001611)1.96746092
78Megalencephaly (HP:0001355)1.96620272
79Focal dystonia (HP:0004373)1.95673427
80Narrow nasal bridge (HP:0000446)1.94790358
81Impaired social interactions (HP:0000735)1.94262335
82Abnormal social behavior (HP:0012433)1.94262335
83Paraplegia (HP:0010550)1.93241122
84Abnormality of the lower motor neuron (HP:0002366)1.92608714
85Depression (HP:0000716)1.92564989
86Morphological abnormality of the middle ear (HP:0008609)1.91672471
87Generalized hypotonia (HP:0001290)1.91242438
88Distal upper limb amyotrophy (HP:0007149)1.89317105
89Upper limb amyotrophy (HP:0009129)1.89317105
90Hemiparesis (HP:0001269)1.89150580
91Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.88190727
92Partial agenesis of the corpus callosum (HP:0001338)1.87512313
93Atrophy/Degeneration involving motor neurons (HP:0007373)1.87483762
94* Specific learning disability (HP:0001328)1.87100251
95Hepatoblastoma (HP:0002884)1.87084838
96Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.86851953
97Degeneration of the lateral corticospinal tracts (HP:0002314)1.86851953
98Craniofacial dystonia (HP:0012179)1.85889063
99Abnormality of salivation (HP:0100755)1.85445537
100Stereotypic behavior (HP:0000733)1.84314131
101Fibular aplasia (HP:0002990)1.84045207
102* Hypoplasia of the corpus callosum (HP:0002079)1.84017445
103Spastic tetraplegia (HP:0002510)1.82787053
104Hammertoe (HP:0001765)1.82189977
105High anterior hairline (HP:0009890)1.81929355
106Heterochromia iridis (HP:0001100)1.81039187
107Pelvic girdle muscle weakness (HP:0003749)1.80060207
108Rimmed vacuoles (HP:0003805)1.79707725
109* Amblyopia (HP:0000646)1.78986474
110Anxiety (HP:0000739)1.78564804
111Sacral dimple (HP:0000960)1.78461543
112Autism (HP:0000717)1.78036902
113Abnormality of the intervertebral disk (HP:0005108)1.77283152
114Anosmia (HP:0000458)1.77165742
115Micropenis (HP:0000054)1.77035978
116Absent speech (HP:0001344)1.76197455
117Renal hypoplasia (HP:0000089)1.75663477
118Sporadic (HP:0003745)1.73146342
119Thyroid carcinoma (HP:0002890)1.72013251
120Spastic paraplegia (HP:0001258)1.71328216
121Intestinal atresia (HP:0011100)1.71126643
122Meningocele (HP:0002435)1.70944231
123Split foot (HP:0001839)1.70466372
124Abnormality of the metopic suture (HP:0005556)1.70448340
125Broad foot (HP:0001769)1.70193384
126Incomplete penetrance (HP:0003829)1.66602075
127Limb-girdle muscle weakness (HP:0003325)1.66582860
128Narrow forehead (HP:0000341)1.66559312
129Occipital encephalocele (HP:0002085)1.63663631
130Poor coordination (HP:0002370)1.62979795
131Abnormal neuron morphology (HP:0012757)1.62097029
132Abnormality of the motor neurons (HP:0002450)1.62097029
133Intellectual disability, severe (HP:0010864)1.61753246

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MARK16.62773332
2DYRK23.15963316
3MINK12.99165638
4CASK2.85756568
5MAPK132.82484134
6NTRK32.69390493
7MAP3K92.63218338
8TRIM282.61155393
9MAP3K42.60198549
10NTRK22.58466663
11MAP2K72.44430445
12MAP4K22.32584286
13MAP3K122.28396205
14ERBB31.90954541
15KSR11.90271229
16SIK31.87283054
17UHMK11.83822469
18LIMK11.83288663
19PHKG21.75264678
20PHKG11.75264678
21DAPK21.64873893
22DYRK31.58750721
23PAK61.55861308
24MAP2K41.49830499
25BCR1.45839600
26WNK31.45743112
27EPHB21.44421174
28LATS21.40820985
29SIK21.39042422
30CDK51.31583027
31CDK191.30312255
32BMPR1B1.30113628
33CSNK1G21.26570859
34NTRK11.25654549
35EPHA41.24468814
36SGK4941.24028113
37SGK2231.24028113
38GRK51.14138740
39CSNK1G31.13209964
40FGFR21.12603533
41TYRO31.11040674
42PINK11.03700045
43DYRK1A1.03613531
44DAPK11.03298044
45CDK181.00879889
46CCNB11.00168125
47RPS6KA20.99213302
48PLK20.97678524
49SGK20.94927470
50PNCK0.93532528
51PRKCG0.93276007
52CDK140.91288015
53CDK150.89432599
54EPHA30.86978937
55RPS6KA40.83805433
56TNIK0.83077614
57MARK20.82942275
58PRKD30.82590803
59KSR20.79164724
60CSNK1A1L0.79095889
61CDK11A0.79014107
62LMTK20.77615346
63TESK20.76597275
64EPHB10.74993896
65RET0.74834002
66PRPF4B0.72870776
67PAK30.71126887
68YES10.71062891
69BCKDK0.69943578
70PRKCZ0.67368525
71ICK0.67023927
72CSNK1G10.64543963
73CAMK2A0.59482370
74PKN20.57573068
75ROCK10.55173589
76CAMK2B0.53803429
77MAP2K10.50774140
78GRK70.49852543
79CAMKK20.49396235
80SGK30.48955032
81CAMKK10.48671813
82MAPK40.48301999
83MAPK90.47751968
84PRKCE0.47376352
85NME10.46188125
86PKN10.45498063
87ROCK20.45228842
88PRKAA10.44308167
89CAMK40.41997465
90SRPK10.41223721
91OXSR10.41037474
92CSNK1D0.40470515
93TESK10.39770475
94ERBB20.39741670
95IRAK20.39406850
96FER0.38362624
97NEK10.38202521
98STK110.37893890
99MAPK80.36488427
100CAMK2G0.36019825
101MAP3K60.33995918
102PIM20.33441947
103ADRBK20.32997185
104MATK0.32754500
105DYRK1B0.32080668
106AURKA0.29136108
107SGK10.27936912
108ARAF0.27770320
109MAP3K50.27531198
110DDR20.27513448
111MAP3K20.27359648
112CSNK1E0.27109467
113CSNK1A10.27055962
114PRKCB0.26324565
115CAMK1G0.26015564
116MAP2K60.24000603
117PRKACA0.23783126
118FYN0.23456196
119BRD40.23378688
120BRAF0.23371584
121MAPK150.23139324
122PRKACB0.22620923
123CAMK2D0.20752121
124CAMK10.20618027
125GSK3B0.20587192
126PTK20.18800909
127PRKDC0.18583502
128MAPK100.18025097

Predicted pathways (KEGG)

RankGene SetZ-score
1Synaptic vesicle cycle_Homo sapiens_hsa047213.52164981
2Nicotine addiction_Homo sapiens_hsa050333.28316519
3Axon guidance_Homo sapiens_hsa043602.55644818
4Olfactory transduction_Homo sapiens_hsa047402.40816456
5Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.32232156
6Dopaminergic synapse_Homo sapiens_hsa047282.28575080
7Vasopressin-regulated water reabsorption_Homo sapiens_hsa049622.27463571
8Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.18607311
9Circadian entrainment_Homo sapiens_hsa047132.11315555
10GABAergic synapse_Homo sapiens_hsa047272.10928985
11Glutamatergic synapse_Homo sapiens_hsa047242.05664109
12Cholinergic synapse_Homo sapiens_hsa047252.02460373
13Taste transduction_Homo sapiens_hsa047421.93996197
14Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.88230848
15Morphine addiction_Homo sapiens_hsa050321.87902461
16Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.85144339
17Serotonergic synapse_Homo sapiens_hsa047261.82521427
18Cocaine addiction_Homo sapiens_hsa050301.76624800
19Long-term potentiation_Homo sapiens_hsa047201.75207437
20Amphetamine addiction_Homo sapiens_hsa050311.69857339
21Collecting duct acid secretion_Homo sapiens_hsa049661.67607123
22Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.58306926
23Insulin secretion_Homo sapiens_hsa049111.49415664
24ErbB signaling pathway_Homo sapiens_hsa040121.46759184
25* Gap junction_Homo sapiens_hsa045401.45609598
26Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.43754467
27Long-term depression_Homo sapiens_hsa047301.43705138
28Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.42931208
29Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.40737652
30Endometrial cancer_Homo sapiens_hsa052131.36478901
31Colorectal cancer_Homo sapiens_hsa052101.35773139
32Parkinsons disease_Homo sapiens_hsa050121.28608366
33Vibrio cholerae infection_Homo sapiens_hsa051101.26715849
34Oxytocin signaling pathway_Homo sapiens_hsa049211.25870355
35Oxidative phosphorylation_Homo sapiens_hsa001901.23601971
36Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.21560138
37GnRH signaling pathway_Homo sapiens_hsa049121.20529515
38Renin secretion_Homo sapiens_hsa049241.20018593
39Salivary secretion_Homo sapiens_hsa049701.17478687
40Aldosterone synthesis and secretion_Homo sapiens_hsa049251.14073593
41Glioma_Homo sapiens_hsa052141.12858522
42Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.12403446
43Cardiac muscle contraction_Homo sapiens_hsa042601.10177813
44Gastric acid secretion_Homo sapiens_hsa049711.09793412
45Neurotrophin signaling pathway_Homo sapiens_hsa047221.09510154
46Alzheimers disease_Homo sapiens_hsa050101.07969997
47Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.06795512
48Phototransduction_Homo sapiens_hsa047441.04042121
49Melanogenesis_Homo sapiens_hsa049161.02370713
50Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.99389071
51Estrogen signaling pathway_Homo sapiens_hsa049150.96974536
52Calcium signaling pathway_Homo sapiens_hsa040200.96825153
53Oocyte meiosis_Homo sapiens_hsa041140.95736674
54Alcoholism_Homo sapiens_hsa050340.94338416
55Type II diabetes mellitus_Homo sapiens_hsa049300.94001308
56Huntingtons disease_Homo sapiens_hsa050160.92778756
57Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.87829477
58Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.87266012
59Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.86007366
60Renal cell carcinoma_Homo sapiens_hsa052110.85813843
61Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.84980571
62Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.84346916
63Wnt signaling pathway_Homo sapiens_hsa043100.84009063
64Phosphatidylinositol signaling system_Homo sapiens_hsa040700.81754425
65MAPK signaling pathway_Homo sapiens_hsa040100.79724985
66Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.78199344
67* Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.77049356
68Tight junction_Homo sapiens_hsa045300.76244429
69Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.75435863
70Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.73767670
71Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.73586052
72AMPK signaling pathway_Homo sapiens_hsa041520.72661246
73VEGF signaling pathway_Homo sapiens_hsa043700.72152281
74cAMP signaling pathway_Homo sapiens_hsa040240.71106476
75Salmonella infection_Homo sapiens_hsa051320.70546554
76Hedgehog signaling pathway_Homo sapiens_hsa043400.70345412
77Ras signaling pathway_Homo sapiens_hsa040140.69126991
78Insulin signaling pathway_Homo sapiens_hsa049100.68147229
79Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.66879291
80* Phagosome_Homo sapiens_hsa041450.66735120
81Choline metabolism in cancer_Homo sapiens_hsa052310.65069620
82Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.62300686
83Hippo signaling pathway_Homo sapiens_hsa043900.60709449
84Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.59930142
85Regulation of autophagy_Homo sapiens_hsa041400.59731205
86Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.59410041
872-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.59356521
88Prolactin signaling pathway_Homo sapiens_hsa049170.58883482
89SNARE interactions in vesicular transport_Homo sapiens_hsa041300.57427024
90Endocytosis_Homo sapiens_hsa041440.57097322
91Thyroid hormone signaling pathway_Homo sapiens_hsa049190.56864270
92Dorso-ventral axis formation_Homo sapiens_hsa043200.56187677
93cGMP-PKG signaling pathway_Homo sapiens_hsa040220.55824497
94Central carbon metabolism in cancer_Homo sapiens_hsa052300.55718939
95Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.55405770
96Phospholipase D signaling pathway_Homo sapiens_hsa040720.55372456
97Sphingolipid signaling pathway_Homo sapiens_hsa040710.54586563
98Biosynthesis of amino acids_Homo sapiens_hsa012300.54531807
99Rap1 signaling pathway_Homo sapiens_hsa040150.54345817
100Butanoate metabolism_Homo sapiens_hsa006500.53180291
101Basal cell carcinoma_Homo sapiens_hsa052170.52774471
102Non-small cell lung cancer_Homo sapiens_hsa052230.52669280
103Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.52333721
104Melanoma_Homo sapiens_hsa052180.51833868
105Protein export_Homo sapiens_hsa030600.49104717
106mTOR signaling pathway_Homo sapiens_hsa041500.48978998
107Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.46349268
108Adherens junction_Homo sapiens_hsa045200.43608299
109Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.41738658
110Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.40696729
111Vascular smooth muscle contraction_Homo sapiens_hsa042700.38862938
112Notch signaling pathway_Homo sapiens_hsa043300.38761105
113Dilated cardiomyopathy_Homo sapiens_hsa054140.36158569
114Viral myocarditis_Homo sapiens_hsa054160.35253309
115Steroid biosynthesis_Homo sapiens_hsa001000.35199125
116Prion diseases_Homo sapiens_hsa050200.34945553
117Fatty acid elongation_Homo sapiens_hsa000620.34625593
118Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.34214505
119mRNA surveillance pathway_Homo sapiens_hsa030150.33703006
120Shigellosis_Homo sapiens_hsa051310.33615308
121Basal transcription factors_Homo sapiens_hsa030220.30746897
122Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.30275115

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