TTBK2

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 serine-threonine kinase that putatively phosphorylates tau and tubulin proteins. Mutations in this gene cause spinocerebellar ataxia type 11 (SCA11); a neurodegenerative disease characterized by progressive ataxia and atrophy of the cerebellum and brainstem. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)5.26025048
2synaptic vesicle maturation (GO:0016188)4.85739675
3positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.79317820
4locomotory exploration behavior (GO:0035641)4.56776711
5vocalization behavior (GO:0071625)4.56262641
6synaptic vesicle exocytosis (GO:0016079)4.52383917
7neuron cell-cell adhesion (GO:0007158)4.50852196
8regulation of synaptic vesicle exocytosis (GO:2000300)4.43008967
9positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.41803925
10glutamate secretion (GO:0014047)4.37869893
11neuronal action potential propagation (GO:0019227)4.31637544
12regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.27670852
13protein localization to synapse (GO:0035418)4.11098742
14ionotropic glutamate receptor signaling pathway (GO:0035235)4.10619660
15gamma-aminobutyric acid transport (GO:0015812)4.00289102
16neurotransmitter secretion (GO:0007269)4.00286037
17regulation of glutamate receptor signaling pathway (GO:1900449)3.95958601
18regulation of synaptic vesicle transport (GO:1902803)3.85309659
19cerebellar Purkinje cell differentiation (GO:0021702)3.84759507
20layer formation in cerebral cortex (GO:0021819)3.81026189
21synaptic vesicle docking involved in exocytosis (GO:0016081)3.72663096
22exploration behavior (GO:0035640)3.71921075
23glutamate receptor signaling pathway (GO:0007215)3.69107708
24synaptic transmission, glutamatergic (GO:0035249)3.67322062
25membrane depolarization during action potential (GO:0086010)3.61426448
26neuron recognition (GO:0008038)3.61047022
27neuron-neuron synaptic transmission (GO:0007270)3.58938120
28membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.58853371
29regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.55655433
30negative regulation of cytosolic calcium ion concentration (GO:0051481)3.54127882
31proline transport (GO:0015824)3.53771446
32calcium ion-dependent exocytosis (GO:0017156)3.52857859
33positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.50859723
34regulation of neuronal synaptic plasticity (GO:0048168)3.47532540
35dendritic spine morphogenesis (GO:0060997)3.46704419
36regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.44703421
37cellular potassium ion homeostasis (GO:0030007)3.44649948
38axonal fasciculation (GO:0007413)3.42502950
39regulation of long-term neuronal synaptic plasticity (GO:0048169)3.41637691
40neurotransmitter transport (GO:0006836)3.40921479
41acrosome reaction (GO:0007340)3.39867557
42transmission of nerve impulse (GO:0019226)3.36962601
43dendrite morphogenesis (GO:0048813)3.35095289
44negative regulation of synaptic transmission, GABAergic (GO:0032229)3.32789750
45cell migration in hindbrain (GO:0021535)3.24319099
46regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.23699186
47presynaptic membrane assembly (GO:0097105)3.23520125
48long-term memory (GO:0007616)3.20183180
49gamma-aminobutyric acid signaling pathway (GO:0007214)3.19759675
50cilium or flagellum-dependent cell motility (GO:0001539)3.17863699
51neurotransmitter-gated ion channel clustering (GO:0072578)3.15262039
52establishment of nucleus localization (GO:0040023)3.14064444
53presynaptic membrane organization (GO:0097090)3.13176743
54regulation of excitatory postsynaptic membrane potential (GO:0060079)3.10487339
55regulation of synapse structural plasticity (GO:0051823)3.09830947
56regulation of neurotransmitter secretion (GO:0046928)3.08426881
57activation of protein kinase A activity (GO:0034199)3.07417307
58regulation of postsynaptic membrane potential (GO:0060078)3.05722167
59synaptic vesicle endocytosis (GO:0048488)3.04963953
60neuromuscular process controlling posture (GO:0050884)3.02798276
61regulation of neurotransmitter levels (GO:0001505)3.01265309
62membrane depolarization (GO:0051899)2.99374721
63neuronal ion channel clustering (GO:0045161)2.98011554
64glycine transport (GO:0015816)2.97368095
65postsynaptic membrane organization (GO:0001941)2.97354651
66vesicle transport along microtubule (GO:0047496)2.96828396
67negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.95336456
68startle response (GO:0001964)2.94749433
69synapse assembly (GO:0007416)2.94388139
70positive regulation of potassium ion transmembrane transport (GO:1901381)2.94328492
71regulation of synaptic transmission, glutamatergic (GO:0051966)2.93670750
72positive regulation of synaptic transmission, GABAergic (GO:0032230)2.93533936
73adult walking behavior (GO:0007628)2.92955730
74pyrimidine nucleobase catabolic process (GO:0006208)2.92886343
75positive regulation of membrane potential (GO:0045838)2.92386427
76neuromuscular process controlling balance (GO:0050885)2.90791920
77innervation (GO:0060384)2.90536134
78sodium ion export (GO:0071436)2.89889784
79G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.89311459
80axon ensheathment in central nervous system (GO:0032291)2.88882001
81central nervous system myelination (GO:0022010)2.88882001
82establishment of protein localization to Golgi (GO:0072600)2.88582622
83cerebral cortex radially oriented cell migration (GO:0021799)2.86457034
84regulation of neurotransmitter transport (GO:0051588)2.83968120
85membrane hyperpolarization (GO:0060081)2.82866822
86L-amino acid import (GO:0043092)2.82479018
87limb bud formation (GO:0060174)2.81756577
88acrosome assembly (GO:0001675)2.80926125
89cerebellar granule cell differentiation (GO:0021707)2.79944886
90negative regulation of inclusion body assembly (GO:0090084)2.79279056
91organelle transport along microtubule (GO:0072384)2.79188804
92regulation of synaptic plasticity (GO:0048167)2.79001486
93regulation of vesicle fusion (GO:0031338)2.78748778
94regulation of respiratory system process (GO:0044065)2.77600282
95prepulse inhibition (GO:0060134)2.77059976
96cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.77013897
97positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.76762575
98sperm motility (GO:0030317)2.76647908
99C4-dicarboxylate transport (GO:0015740)2.76145561
100central nervous system neuron axonogenesis (GO:0021955)2.75918013
101response to auditory stimulus (GO:0010996)2.75610163
102regulation of dendritic spine morphogenesis (GO:0061001)2.74703594
103regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)2.73778984
104long-term synaptic potentiation (GO:0060291)2.73647627
105protein targeting to Golgi (GO:0000042)2.73350453
106mating behavior (GO:0007617)2.73009782
107neuromuscular synaptic transmission (GO:0007274)2.72846617
108cell differentiation in hindbrain (GO:0021533)2.72729664
109mechanosensory behavior (GO:0007638)2.72641504
110neuromuscular process (GO:0050905)2.72196608
111renal system development (GO:0072001)2.72192855
112synapse organization (GO:0050808)2.71208381
113central nervous system projection neuron axonogenesis (GO:0021952)2.70920190
114regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.70814507
115synaptic transmission (GO:0007268)2.70314609
116regulation of synaptic transmission, GABAergic (GO:0032228)2.70222825
117auditory behavior (GO:0031223)2.70187006
118negative regulation of dendrite development (GO:2000171)2.66829686
119retrograde transport, vesicle recycling within Golgi (GO:0000301)2.65987447
120cellular sodium ion homeostasis (GO:0006883)2.65742453
121regulation of voltage-gated calcium channel activity (GO:1901385)2.63886948
122establishment of mitochondrion localization (GO:0051654)2.63277040
123detection of calcium ion (GO:0005513)2.61502409
124nucleobase catabolic process (GO:0046113)2.60702707
125epithelial cilium movement (GO:0003351)2.58570310
126nucleus localization (GO:0051647)2.58524626
127cell communication by electrical coupling (GO:0010644)2.55749172
128negative regulation of neurotransmitter transport (GO:0051589)2.55301476
129potassium ion import (GO:0010107)2.54653073
130cilium movement (GO:0003341)2.54633629
131regulation of membrane repolarization (GO:0060306)2.53184513
132regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO2.52618060
133serotonin metabolic process (GO:0042428)2.49297927
134epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.49197572
135regulation of neurotransmitter uptake (GO:0051580)2.48913331

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.93489298
2GBX2_23144817_ChIP-Seq_PC3_Human3.55979377
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.62110671
4JARID2_20064375_ChIP-Seq_MESCs_Mouse2.52339388
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.51366527
6GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.43267204
7REST_21632747_ChIP-Seq_MESCs_Mouse2.41966831
8ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.26714401
9RNF2_18974828_ChIP-Seq_MESCs_Mouse2.21706376
10EZH2_18974828_ChIP-Seq_MESCs_Mouse2.21706376
11FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.19199035
12DROSHA_22980978_ChIP-Seq_HELA_Human2.17290194
13EZH2_27304074_Chip-Seq_ESCs_Mouse2.17065990
14SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.15154241
15MTF2_20144788_ChIP-Seq_MESCs_Mouse2.13475543
16SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.12571320
17JARID2_20075857_ChIP-Seq_MESCs_Mouse2.10251562
18SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.06690974
19SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.06422932
20TAF15_26573619_Chip-Seq_HEK293_Human2.03671057
21EZH2_27294783_Chip-Seq_ESCs_Mouse1.94948638
22CTBP2_25329375_ChIP-Seq_LNCAP_Human1.94216384
23EED_16625203_ChIP-ChIP_MESCs_Mouse1.94125755
24SUZ12_27294783_Chip-Seq_ESCs_Mouse1.93554520
25RNF2_27304074_Chip-Seq_ESCs_Mouse1.92840092
26RARB_27405468_Chip-Seq_BRAIN_Mouse1.81513896
27* SMAD4_21799915_ChIP-Seq_A2780_Human1.79164689
28SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.78806370
29REST_18959480_ChIP-ChIP_MESCs_Mouse1.78766035
30ZFP57_27257070_Chip-Seq_ESCs_Mouse1.78646636
31NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.76727979
32SALL1_21062744_ChIP-ChIP_HESCs_Human1.72761609
33CTBP1_25329375_ChIP-Seq_LNCAP_Human1.71856303
34PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.63069081
35TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.61539310
36CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.61390660
37ZNF274_21170338_ChIP-Seq_K562_Hela1.59884318
38BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.59843044
39GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.58830419
40CBX2_27304074_Chip-Seq_ESCs_Mouse1.55658458
41P300_19829295_ChIP-Seq_ESCs_Human1.51026880
42SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.49510823
43IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.44906725
44CBP_20019798_ChIP-Seq_JUKART_Human1.44906725
45* POU3F2_20337985_ChIP-ChIP_501MEL_Human1.43516168
46* AR_21572438_ChIP-Seq_LNCaP_Human1.43026043
47STAT3_23295773_ChIP-Seq_U87_Human1.42409283
48SMAD3_21741376_ChIP-Seq_EPCs_Human1.41441157
49BMI1_23680149_ChIP-Seq_NPCS_Mouse1.41071416
50RBPJ_22232070_ChIP-Seq_NCS_Mouse1.40443069
51CDX2_19796622_ChIP-Seq_MESCs_Mouse1.38090319
52IKZF1_21737484_ChIP-ChIP_HCT116_Human1.36191643
53OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.34817098
54PIAS1_25552417_ChIP-Seq_VCAP_Human1.33549445
55RNF2_27304074_Chip-Seq_NSC_Mouse1.33449110
56AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.33245523
57* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.33086191
58TOP2B_26459242_ChIP-Seq_MCF-7_Human1.32954720
59RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.32726190
60AR_25329375_ChIP-Seq_VCAP_Human1.30037083
61SOX2_21211035_ChIP-Seq_LN229_Gbm1.28701253
62* TCF4_23295773_ChIP-Seq_U87_Human1.28622343
63EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.28220557
64HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.27197266
65CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.26789725
66ARNT_22903824_ChIP-Seq_MCF-7_Human1.20763866
67FUS_26573619_Chip-Seq_HEK293_Human1.20567415
68* TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.20554873
69SMAD_19615063_ChIP-ChIP_OVARY_Human1.20428331
70PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.18954223
71TP53_16413492_ChIP-PET_HCT116_Human1.17953026
72AHR_22903824_ChIP-Seq_MCF-7_Human1.17333374
73IGF1R_20145208_ChIP-Seq_DFB_Human1.17233256
74POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.16410215
75TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.16410215
76TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.16263833
77TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.16042625
78MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.15783105
79EWS_26573619_Chip-Seq_HEK293_Human1.15446618
80NR3C1_23031785_ChIP-Seq_PC12_Mouse1.15200011
81FLI1_21867929_ChIP-Seq_TH2_Mouse1.15159402
82RING1B_27294783_Chip-Seq_ESCs_Mouse1.14582914
83AR_19668381_ChIP-Seq_PC3_Human1.13656178
84* NANOG_18555785_Chip-Seq_ESCs_Mouse1.13311201
85PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.13215986
86ZNF217_24962896_ChIP-Seq_MCF-7_Human1.12899738
87ER_23166858_ChIP-Seq_MCF-7_Human1.11221297
88PCGF2_27294783_Chip-Seq_ESCs_Mouse1.10589465
89RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.10032054
90VDR_22108803_ChIP-Seq_LS180_Human1.09814066
91TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.09712207
92RUNX2_22187159_ChIP-Seq_PCA_Human1.09269079
93SMAD4_21741376_ChIP-Seq_EPCs_Human1.08583063
94LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.08115833
95YAP1_20516196_ChIP-Seq_MESCs_Mouse1.08083594
96UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.07854082
97MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.07195116
98KLF5_20875108_ChIP-Seq_MESCs_Mouse1.05511429
99TP53_18474530_ChIP-ChIP_U2OS_Human1.05310300
100NR3C1_21868756_ChIP-Seq_MCF10A_Human1.05205378
101SMAD3_21741376_ChIP-Seq_ESCs_Human1.05020734
102TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.04954767
103CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.04057096
104MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.03958824
105WT1_25993318_ChIP-Seq_PODOCYTE_Human1.03309415
106KDM2B_26808549_Chip-Seq_REH_Human0.98569950
107* E2F1_18555785_Chip-Seq_ESCs_Mouse0.98518600
108RING1B_27294783_Chip-Seq_NPCs_Mouse0.97720006
109P53_22127205_ChIP-Seq_FIBROBLAST_Human0.95954217
110BCAT_22108803_ChIP-Seq_LS180_Human0.94686342
111FLI1_27457419_Chip-Seq_LIVER_Mouse0.94141552
112* EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.93950356
113* CMYC_18555785_Chip-Seq_ESCs_Mouse0.93949781
114KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.92750094
115PRDM14_20953172_ChIP-Seq_ESCs_Human0.92713818

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.01619471
2MP0003880_abnormal_central_pattern4.27275763
3MP0004270_analgesia3.67043237
4MP0003635_abnormal_synaptic_transmissio3.60230294
5MP0009046_muscle_twitch3.37382392
6MP0005423_abnormal_somatic_nervous3.11818685
7MP0001968_abnormal_touch/_nociception2.99097260
8MP0009745_abnormal_behavioral_response2.96646561
9MP0002064_seizures2.83743405
10MP0002063_abnormal_learning/memory/cond2.83565923
11MP0002734_abnormal_mechanical_nocicepti2.74725740
12MP0005410_abnormal_fertilization2.62500300
13MP0002272_abnormal_nervous_system2.55976269
14MP0002572_abnormal_emotion/affect_behav2.51583032
15MP0001486_abnormal_startle_reflex2.51090217
16MP0002735_abnormal_chemical_nociception2.40803189
17MP0002736_abnormal_nociception_after2.17794411
18MP0006276_abnormal_autonomic_nervous2.08696338
19MP0002067_abnormal_sensory_capabilities2.07964161
20MP0000778_abnormal_nervous_system2.02444628
21MP0002733_abnormal_thermal_nociception2.02286765
22MP0001440_abnormal_grooming_behavior2.00116460
23MP0001501_abnormal_sleep_pattern1.97170941
24MP0002184_abnormal_innervation1.93275404
25MP0001970_abnormal_pain_threshold1.91685537
26MP0009780_abnormal_chondrocyte_physiolo1.88272907
27MP0000566_synostosis1.82476157
28MP0008569_lethality_at_weaning1.81424063
29MP0003787_abnormal_imprinting1.75813404
30MP0005646_abnormal_pituitary_gland1.70883555
31MP0002557_abnormal_social/conspecific_i1.70638715
32MP0001984_abnormal_olfaction1.69892721
33MP0004811_abnormal_neuron_physiology1.67764722
34MP0004924_abnormal_behavior1.66928636
35MP0005386_behavior/neurological_phenoty1.66928636
36MP0000955_abnormal_spinal_cord1.63274991
37MP0002822_catalepsy1.57772966
38MP0000569_abnormal_digit_pigmentation1.56244376
39MP0004858_abnormal_nervous_system1.54735033
40MP0003122_maternal_imprinting1.53120988
41MP0002882_abnormal_neuron_morphology1.49219160
42MP0004885_abnormal_endolymph1.47391053
43MP0005645_abnormal_hypothalamus_physiol1.44423926
44MP0002909_abnormal_adrenal_gland1.40364933
45MP0001188_hyperpigmentation1.38760990
46MP0003329_amyloid_beta_deposits1.36571358
47MP0004142_abnormal_muscle_tone1.35547461
48MP0002066_abnormal_motor_capabilities/c1.34879251
49MP0005551_abnormal_eye_electrophysiolog1.32354935
50MP0005248_abnormal_Harderian_gland1.31776616
51MP0001502_abnormal_circadian_rhythm1.25131302
52MP0003633_abnormal_nervous_system1.24578618
53MP0004742_abnormal_vestibular_system1.23684530
54MP0006292_abnormal_olfactory_placode1.23107861
55MP0003698_abnormal_male_reproductive1.22705064
56MP0003879_abnormal_hair_cell1.22206313
57MP0004145_abnormal_muscle_electrophysio1.21817628
58MP0002152_abnormal_brain_morphology1.14801938
59MP0001529_abnormal_vocalization1.14450155
60MP0002229_neurodegeneration1.13813840
61MP0008877_abnormal_DNA_methylation1.10024064
62MP0003631_nervous_system_phenotype1.08661538
63MP0010386_abnormal_urinary_bladder1.08090213
64MP0001299_abnormal_eye_distance/1.07718221
65MP0005623_abnormal_meninges_morphology1.01230860
66MP0001905_abnormal_dopamine_level1.00233094
67MP0000631_abnormal_neuroendocrine_gland0.99190803
68MP0001986_abnormal_taste_sensitivity0.96494454
69MP0002752_abnormal_somatic_nervous0.95877691
70MP0001963_abnormal_hearing_physiology0.95439725
71MP0003634_abnormal_glial_cell0.94900165
72MP0008057_abnormal_DNA_replication0.94785514
73MP0000920_abnormal_myelination0.93797174
74MP0006072_abnormal_retinal_apoptosis0.91477428
75MP0000751_myopathy0.91295358
76MP0001485_abnormal_pinna_reflex0.88765270
77MP0003632_abnormal_nervous_system0.86649366
78MP0003283_abnormal_digestive_organ0.85689917
79MP0001177_atelectasis0.85092785
80MP0004484_altered_response_of0.84454564
81MP0002638_abnormal_pupillary_reflex0.83160495
82MP0005409_darkened_coat_color0.81093512
83MP0002102_abnormal_ear_morphology0.81066342
84MP0005253_abnormal_eye_physiology0.80237715
85MP0004085_abnormal_heartbeat0.79154299
86MP0002234_abnormal_pharynx_morphology0.77893938
87MP0004084_abnormal_cardiac_muscle0.77482263
88MP0003121_genomic_imprinting0.76584648
89MP0002069_abnormal_eating/drinking_beha0.75457599
90MP0005171_absent_coat_pigmentation0.74123406
91MP0003938_abnormal_ear_development0.74070163
92MP0005499_abnormal_olfactory_system0.74005743
93MP0005394_taste/olfaction_phenotype0.74005743
94MP0000013_abnormal_adipose_tissue0.73599877
95MP0000026_abnormal_inner_ear0.73574702
96MP0003861_abnormal_nervous_system0.71372776
97MP0003690_abnormal_glial_cell0.70697545
98MP0004043_abnormal_pH_regulation0.70586817
99MP0005187_abnormal_penis_morphology0.69347437
100MP0002938_white_spotting0.68895293
101MP0004130_abnormal_muscle_cell0.68490635
102MP0001929_abnormal_gametogenesis0.67888924
103MP0008789_abnormal_olfactory_epithelium0.67651264
104MP0005620_abnormal_muscle_contractility0.65973165
105MP0001943_abnormal_respiration0.65466331
106MP0004133_heterotaxia0.65017984
107MP0002876_abnormal_thyroid_physiology0.64713619
108MP0008872_abnormal_physiological_respon0.63164166
109MP0002751_abnormal_autonomic_nervous0.62841862
110MP0003385_abnormal_body_wall0.62136343
111MP0004215_abnormal_myocardial_fiber0.62002766
112MP0002161_abnormal_fertility/fecundity0.61902285
113MP0002837_dystrophic_cardiac_calcinosis0.61790040
114MP0004233_abnormal_muscle_weight0.61318582
115MP0002653_abnormal_ependyma_morphology0.61147029
116MP0003137_abnormal_impulse_conducting0.60398058
117MP0005535_abnormal_body_temperature0.60234914

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)6.02382783
2Myokymia (HP:0002411)5.12196938
3Focal seizures (HP:0007359)4.82825340
4Febrile seizures (HP:0002373)4.41715309
5Absent/shortened dynein arms (HP:0200106)4.26189938
6Dynein arm defect of respiratory motile cilia (HP:0012255)4.26189938
7Abnormality of the labia minora (HP:0012880)4.21453865
8Atonic seizures (HP:0010819)4.17969795
9Epileptic encephalopathy (HP:0200134)4.05026612
10Visual hallucinations (HP:0002367)3.82814763
11Respiratory insufficiency due to defective ciliary clearance (HP:0200073)3.72226820
12Action tremor (HP:0002345)3.70440038
13* Progressive cerebellar ataxia (HP:0002073)3.66905037
14Absence seizures (HP:0002121)3.50557543
15Gaze-evoked nystagmus (HP:0000640)3.33798385
16Supranuclear gaze palsy (HP:0000605)3.22837479
17Broad-based gait (HP:0002136)3.21372201
18Generalized tonic-clonic seizures (HP:0002069)3.17015517
19Dialeptic seizures (HP:0011146)3.11169160
20Cystic liver disease (HP:0006706)3.07535812
21Ankle clonus (HP:0011448)3.04822386
22Truncal ataxia (HP:0002078)3.01207347
23Abnormal respiratory motile cilium physiology (HP:0012261)2.97897678
24Hyperventilation (HP:0002883)2.96826104
25Impaired vibration sensation in the lower limbs (HP:0002166)2.76226809
26Hypoplastic labia majora (HP:0000059)2.74855663
27Urinary bladder sphincter dysfunction (HP:0002839)2.72520845
28Abnormality of the corticospinal tract (HP:0002492)2.70556855
29Chronic hepatic failure (HP:0100626)2.68449794
30Dysdiadochokinesis (HP:0002075)2.66349202
31Abnormal respiratory epithelium morphology (HP:0012253)2.65812149
32Abnormal respiratory motile cilium morphology (HP:0005938)2.65812149
33Termporal pattern (HP:0011008)2.64713298
34Insidious onset (HP:0003587)2.64713298
35Genetic anticipation (HP:0003743)2.64083066
36Abnormal ciliary motility (HP:0012262)2.62231898
37Pheochromocytoma (HP:0002666)2.58234472
38Hepatoblastoma (HP:0002884)2.55995637
39Spastic gait (HP:0002064)2.55262098
40Progressive inability to walk (HP:0002505)2.54319232
41Dysmetria (HP:0001310)2.53346055
42Excessive salivation (HP:0003781)2.52611177
43Drooling (HP:0002307)2.52611177
44Hemiparesis (HP:0001269)2.51383720
45Abnormality of the labia majora (HP:0012881)2.51287440
46Absent speech (HP:0001344)2.49289269
47Abnormality of the lower motor neuron (HP:0002366)2.46596718
48Urinary urgency (HP:0000012)2.45767253
49Depression (HP:0000716)2.45370293
50Scanning speech (HP:0002168)2.44408994
51Aplasia/Hypoplasia of the sternum (HP:0006714)2.43764002
52Abnormal eating behavior (HP:0100738)2.42385083
53Impaired smooth pursuit (HP:0007772)2.36374166
54Pancreatic fibrosis (HP:0100732)2.36135305
55Poor eye contact (HP:0000817)2.36106045
56Postural instability (HP:0002172)2.35506379
57Mutism (HP:0002300)2.32680153
58Abnormality of ocular smooth pursuit (HP:0000617)2.28954136
59Amblyopia (HP:0000646)2.22834402
60Limb dystonia (HP:0002451)2.21484797
61True hermaphroditism (HP:0010459)2.20507872
62Truncal obesity (HP:0001956)2.20407175
63Intention tremor (HP:0002080)2.19556030
64Cutaneous finger syndactyly (HP:0010554)2.17894312
65Labial hypoplasia (HP:0000066)2.17537552
66Agitation (HP:0000713)2.17265804
67Lower limb muscle weakness (HP:0007340)2.16563196
68Papilledema (HP:0001085)2.16040670
69Pancreatic cysts (HP:0001737)2.14671180
70Volvulus (HP:0002580)2.14491246
71Impaired social interactions (HP:0000735)2.14162483
72Abnormal social behavior (HP:0012433)2.14162483
73Rhinitis (HP:0012384)2.11938505
74Anxiety (HP:0000739)2.10628945
75Tubulointerstitial nephritis (HP:0001970)2.10538011
76Aqueductal stenosis (HP:0002410)2.10349405
77Abnormality of the renal medulla (HP:0100957)2.09646591
78Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.08971384
79Degeneration of the lateral corticospinal tracts (HP:0002314)2.08971384
80Neurofibrillary tangles (HP:0002185)2.08915969
81Neuroendocrine neoplasm (HP:0100634)2.08271966
82Exotropia (HP:0000577)2.07982767
83Gait imbalance (HP:0002141)2.07551274
84Fetal akinesia sequence (HP:0001989)2.05486902
85Blue irides (HP:0000635)2.05421628
86Infertility (HP:0000789)2.03956498
87Epileptiform EEG discharges (HP:0011182)2.02509636
88Inability to walk (HP:0002540)2.02185714
89Back pain (HP:0003418)2.01429902
90Amyotrophic lateral sclerosis (HP:0007354)2.01128449
91Polyphagia (HP:0002591)1.99633769
92EEG with generalized epileptiform discharges (HP:0011198)1.96174441
93Status epilepticus (HP:0002133)1.95597794
94Abnormality of cochlea (HP:0000375)1.95031813
95Diplopia (HP:0000651)1.93243094
96Abnormality of binocular vision (HP:0011514)1.93243094
97Intestinal atresia (HP:0011100)1.92418551
98Impaired vibratory sensation (HP:0002495)1.91643655
99Shawl scrotum (HP:0000049)1.91479434
100Medial flaring of the eyebrow (HP:0010747)1.88527052
101Hypoplasia of the brainstem (HP:0002365)1.86499452
102Aplasia/Hypoplasia of the brainstem (HP:0007362)1.86499452
103Gait ataxia (HP:0002066)1.86440616
104Hypsarrhythmia (HP:0002521)1.86328182
105Fair hair (HP:0002286)1.86263291
106Hypoplastic female external genitalia (HP:0012815)1.85477630
107Abnormality of midbrain morphology (HP:0002418)1.84688001
108Molar tooth sign on MRI (HP:0002419)1.84688001
109Bradykinesia (HP:0002067)1.84539681
110Short 4th metacarpal (HP:0010044)1.83694956
111Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)1.83694956
112Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.83474988
113Specific learning disability (HP:0001328)1.83093633
114Gastrointestinal atresia (HP:0002589)1.82884360
115Megalencephaly (HP:0001355)1.82573787
116Protruding tongue (HP:0010808)1.81555429
117Inappropriate behavior (HP:0000719)1.81005016
118Abnormality of the ischium (HP:0003174)1.80292733
119Widely spaced teeth (HP:0000687)1.80020430
120Dysmetric saccades (HP:0000641)1.79794220
121Hemiplegia (HP:0002301)1.78506570
122Ulnar claw (HP:0001178)1.78419040
123Genital tract atresia (HP:0001827)1.78190015
124Cerebral inclusion bodies (HP:0100314)1.77790704
125Abnormality of the aortic arch (HP:0012303)1.77664405
126Central scotoma (HP:0000603)1.77200514
127Abnormality of saccadic eye movements (HP:0000570)1.77192141
128Abnormality of salivation (HP:0100755)1.77181509
129Nephronophthisis (HP:0000090)1.76345847
130Failure to thrive in infancy (HP:0001531)1.75434006
131Oligodactyly (hands) (HP:0001180)1.75433885
132Facial hemangioma (HP:0000329)1.74891964
133Neoplasm of the oral cavity (HP:0100649)1.74704889
134Generalized myoclonic seizures (HP:0002123)1.74689204
135Morphological abnormality of the inner ear (HP:0011390)1.74289555
136Poor coordination (HP:0002370)1.73602729
137Clonus (HP:0002169)1.73078146
138Ventricular fibrillation (HP:0001663)1.72511007
139Cutaneous syndactyly (HP:0012725)1.72426534
140Papillary thyroid carcinoma (HP:0002895)1.70273345
141Bundle branch block (HP:0011710)1.69097574
142Macroorchidism (HP:0000053)1.67590905

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.21205059
2MARK13.62073207
3FRK3.40869353
4MAP3K43.20065384
5MAP3K92.94925657
6MAP2K72.83776922
7EPHA42.60867733
8MINK12.44736756
9CASK2.35487719
10NTRK22.24728747
11PNCK2.20606653
12PRKD32.18304459
13MAP4K22.18082003
14PAK62.07808285
15MAP2K41.81308115
16NTRK11.80298122
17PDK41.71754887
18PDK31.71754887
19MAPK131.63529367
20DAPK21.58768747
21WNK11.58187019
22STK38L1.51518095
23STK391.50158332
24MAP3K121.48257312
25TNIK1.47277646
26CAMKK11.46294648
27STK381.44402897
28OBSCN1.37042193
29CDK51.36993942
30UHMK11.30899916
31SIK21.28311934
32SGK4941.27039876
33SGK2231.27039876
34PLK21.21085899
35PHKG21.19362390
36PHKG11.19362390
37ICK1.18904387
38GRK51.17709273
39RIPK41.15955872
40CAMKK21.15319407
41SGK21.14898159
42PRKCG1.12283898
43CAMK1D1.10050438
44KSR21.08914479
45CAMK1G1.07463534
46AKT31.06990811
47WNK41.06278296
48TRIM281.04983504
49KSR11.03369152
50OXSR11.03311850
51BRD41.02884191
52MAP3K21.01156692
53PDK20.97393212
54CAMK2A0.93688610
55LMTK20.93071059
56TYRO30.91908692
57RET0.90788741
58PRPF4B0.90774741
59SGK30.87266935
60CAMK40.86492569
61CDK190.86123826
62CSNK1G20.85911035
63FGFR20.84884136
64PTK2B0.84495941
65INSRR0.84014348
66LATS20.81826855
67WNK30.81559414
68PAK30.81344634
69STK110.79370972
70CDK180.76751719
71DAPK10.76492386
72CDK150.75531705
73CDK140.75219791
74PINK10.74450467
75MARK20.73526484
76SGK10.72538777
77CAMK2B0.70941288
78FES0.69771347
79CAMK10.68738035
80PRKCH0.67470661
81NEK60.65683299
82PRKCE0.65173764
83PKN10.63504478
84CDK11A0.62895512
85DYRK1A0.61760268
86PDK10.60829599
87LATS10.59413131
88CDC42BPA0.58832832
89PRKAA10.55230305
90CSNK1D0.55186378
91CSNK1G10.54843759
92PRKCZ0.54417958
93FGFR30.53953810
94MKNK20.53886098
95CDK30.53756314
96FER0.53640535
97BCR0.53337902
98CAMK2D0.53193248
99ERBB30.53006623
100RAF10.51566856
101PDPK10.50435673
102PLK40.48568395
103MAPK100.47897510
104RPS6KA30.47726020
105SCYL20.47160230
106CSNK1G30.46869482
107TESK10.45081729
108TNK20.44722807
109MAP3K60.43939772
110CAMK2G0.43888508
111MAPK150.43553619
112CCNB10.43410490
113PRKAA20.42706623
114BRSK20.42530917
115MAP3K70.40778548
116PRKG10.40258062
117DYRK20.40233509
118ADRBK20.39995095
119BMPR1B0.39990995
120GSK3B0.39543996
121ALK0.38452050
122CSNK1A1L0.38372170
123FYN0.37130294
124RPS6KA20.36263667
125CSNK1E0.36032492
126PRKCB0.35901457
127BMPR20.35808853
128NLK0.35478460
129PRKDC0.34996656

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.62021156
2Synaptic vesicle cycle_Homo sapiens_hsa047213.08241709
3GABAergic synapse_Homo sapiens_hsa047272.58473935
4Circadian entrainment_Homo sapiens_hsa047132.51122966
5Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.49541199
6Glutamatergic synapse_Homo sapiens_hsa047242.45500364
7Long-term potentiation_Homo sapiens_hsa047202.40210757
8Olfactory transduction_Homo sapiens_hsa047402.39052610
9Morphine addiction_Homo sapiens_hsa050322.38653003
10Amphetamine addiction_Homo sapiens_hsa050312.30502576
11Taste transduction_Homo sapiens_hsa047422.14211752
12Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.13826032
13Dopaminergic synapse_Homo sapiens_hsa047282.08367101
14Insulin secretion_Homo sapiens_hsa049112.04276250
15Salivary secretion_Homo sapiens_hsa049702.01183467
16Cholinergic synapse_Homo sapiens_hsa047251.80067232
17Gastric acid secretion_Homo sapiens_hsa049711.75946805
18Renin secretion_Homo sapiens_hsa049241.72620981
19Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.71143457
20Serotonergic synapse_Homo sapiens_hsa047261.70809425
21Long-term depression_Homo sapiens_hsa047301.64065114
22Cocaine addiction_Homo sapiens_hsa050301.62103734
23Aldosterone synthesis and secretion_Homo sapiens_hsa049251.60403609
24Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.58902901
25Phototransduction_Homo sapiens_hsa047441.46934573
26Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.46776297
27Calcium signaling pathway_Homo sapiens_hsa040201.45493933
28Oxytocin signaling pathway_Homo sapiens_hsa049211.44812750
29Collecting duct acid secretion_Homo sapiens_hsa049661.36644386
30Type II diabetes mellitus_Homo sapiens_hsa049301.33953368
31Dorso-ventral axis formation_Homo sapiens_hsa043201.30660461
32Axon guidance_Homo sapiens_hsa043601.28134960
33GnRH signaling pathway_Homo sapiens_hsa049121.27296346
34cAMP signaling pathway_Homo sapiens_hsa040241.26994824
35Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.26130136
36Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.25487108
37Phosphatidylinositol signaling system_Homo sapiens_hsa040701.23158235
38Gap junction_Homo sapiens_hsa045401.23033974
39Estrogen signaling pathway_Homo sapiens_hsa049151.19136772
40Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.15026750
41cGMP-PKG signaling pathway_Homo sapiens_hsa040221.06431133
42ErbB signaling pathway_Homo sapiens_hsa040121.06311498
43Cardiac muscle contraction_Homo sapiens_hsa042601.04294252
44Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.04290344
45Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.03545714
46Protein export_Homo sapiens_hsa030601.03532206
47Oocyte meiosis_Homo sapiens_hsa041140.97171040
48Melanogenesis_Homo sapiens_hsa049160.96956575
49Vascular smooth muscle contraction_Homo sapiens_hsa042700.96192524
50Glioma_Homo sapiens_hsa052140.94131125
51Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.87847195
52Pancreatic secretion_Homo sapiens_hsa049720.86443238
53Butanoate metabolism_Homo sapiens_hsa006500.86305180
54Vibrio cholerae infection_Homo sapiens_hsa051100.85928626
55Carbohydrate digestion and absorption_Homo sapiens_hsa049730.84878582
56Thyroid hormone synthesis_Homo sapiens_hsa049180.84518274
57Maturity onset diabetes of the young_Homo sapiens_hsa049500.82106989
58Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.79757350
59Phospholipase D signaling pathway_Homo sapiens_hsa040720.79483526
60MAPK signaling pathway_Homo sapiens_hsa040100.77098906
61ABC transporters_Homo sapiens_hsa020100.76047231
62Glucagon signaling pathway_Homo sapiens_hsa049220.75067227
63Dilated cardiomyopathy_Homo sapiens_hsa054140.73678953
64Choline metabolism in cancer_Homo sapiens_hsa052310.72148184
65Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.69268949
66Alcoholism_Homo sapiens_hsa050340.69079135
67Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.68301777
68Propanoate metabolism_Homo sapiens_hsa006400.67677043
69Nitrogen metabolism_Homo sapiens_hsa009100.66841644
70Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.65073998
71FoxO signaling pathway_Homo sapiens_hsa040680.64032320
72Ras signaling pathway_Homo sapiens_hsa040140.63244535
73Inositol phosphate metabolism_Homo sapiens_hsa005620.63183870
74Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.62655217
75Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.59874448
76Wnt signaling pathway_Homo sapiens_hsa043100.59041543
77Ovarian steroidogenesis_Homo sapiens_hsa049130.58125158
78Thyroid hormone signaling pathway_Homo sapiens_hsa049190.57511928
79Hedgehog signaling pathway_Homo sapiens_hsa043400.55580199
80Neurotrophin signaling pathway_Homo sapiens_hsa047220.55296755
81Endocytosis_Homo sapiens_hsa041440.54694531
82Circadian rhythm_Homo sapiens_hsa047100.53409124
83Fatty acid biosynthesis_Homo sapiens_hsa000610.53401479
84Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.53019398
85Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.52020945
86SNARE interactions in vesicular transport_Homo sapiens_hsa041300.50232799
87Endometrial cancer_Homo sapiens_hsa052130.49896096
88Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.49879752
89Rap1 signaling pathway_Homo sapiens_hsa040150.49068955
90Sphingolipid signaling pathway_Homo sapiens_hsa040710.49060498
91Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.48294264
92Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.48193623
93Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.47715827
94Renal cell carcinoma_Homo sapiens_hsa052110.47033492
95mTOR signaling pathway_Homo sapiens_hsa041500.46690961
96Vitamin B6 metabolism_Homo sapiens_hsa007500.46637426
97Insulin signaling pathway_Homo sapiens_hsa049100.46501466
98Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.45726984
99Prolactin signaling pathway_Homo sapiens_hsa049170.45003158
100VEGF signaling pathway_Homo sapiens_hsa043700.43468608
101Longevity regulating pathway - mammal_Homo sapiens_hsa042110.42310021
102Regulation of autophagy_Homo sapiens_hsa041400.41914555
103Hippo signaling pathway_Homo sapiens_hsa043900.41859050
104Glycerophospholipid metabolism_Homo sapiens_hsa005640.39960371
105Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.39686479
106Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.38723397
107Type I diabetes mellitus_Homo sapiens_hsa049400.36956590
108Basal cell carcinoma_Homo sapiens_hsa052170.36640334
109Linoleic acid metabolism_Homo sapiens_hsa005910.35806149
110Ether lipid metabolism_Homo sapiens_hsa005650.35070665
111Bile secretion_Homo sapiens_hsa049760.34372555
112Mineral absorption_Homo sapiens_hsa049780.32520044
113Alzheimers disease_Homo sapiens_hsa050100.30382740
114Melanoma_Homo sapiens_hsa052180.28273454
115Colorectal cancer_Homo sapiens_hsa052100.28236628
116Tight junction_Homo sapiens_hsa045300.28020608
117Non-small cell lung cancer_Homo sapiens_hsa052230.25002748

Most similar genes based on co-expression Upload to Enrichr

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