NTRK3

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. Signalling through this kinase leads to cell differentiation and may play a role in the development of proprioceptive neurons that sense body position. Mutations in this gene have been associated with medulloblastomas, secretory breast carcinomas and other cancers. Several transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1vocalization behavior (GO:0071625)5.59361623
2regulation of short-term neuronal synaptic plasticity (GO:0048172)5.59304435
3regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.51276263
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.38995401
5ionotropic glutamate receptor signaling pathway (GO:0035235)5.37752977
6locomotory exploration behavior (GO:0035641)5.31961084
7neuron cell-cell adhesion (GO:0007158)5.14688888
8regulation of glutamate receptor signaling pathway (GO:1900449)4.97806566
9glutamate receptor signaling pathway (GO:0007215)4.93900018
10neuronal action potential propagation (GO:0019227)4.93028563
11protein localization to synapse (GO:0035418)4.82039398
12synaptic vesicle exocytosis (GO:0016079)4.79266788
13synaptic transmission, glutamatergic (GO:0035249)4.71941379
14positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.59395351
15synaptic vesicle maturation (GO:0016188)4.59038209
16exploration behavior (GO:0035640)4.50638628
17regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.45290686
18glutamate secretion (GO:0014047)4.41158775
19neuron-neuron synaptic transmission (GO:0007270)4.38924491
20regulation of synaptic vesicle exocytosis (GO:2000300)4.30215395
21neurotransmitter-gated ion channel clustering (GO:0072578)4.16785576
22regulation of long-term neuronal synaptic plasticity (GO:0048169)4.11664603
23auditory behavior (GO:0031223)4.06373915
24neuron recognition (GO:0008038)4.04816195
25regulation of neuronal synaptic plasticity (GO:0048168)4.04039129
26G-protein coupled glutamate receptor signaling pathway (GO:0007216)4.00385763
27presynaptic membrane assembly (GO:0097105)3.99504276
28pyrimidine nucleobase catabolic process (GO:0006208)3.96549649
29postsynaptic membrane organization (GO:0001941)3.96153684
30regulation of synaptic vesicle transport (GO:1902803)3.94587748
31gamma-aminobutyric acid signaling pathway (GO:0007214)3.94246123
32regulation of excitatory postsynaptic membrane potential (GO:0060079)3.93958553
33negative regulation of synaptic transmission, GABAergic (GO:0032229)3.92332505
34synaptic vesicle docking involved in exocytosis (GO:0016081)3.89229614
35neurotransmitter secretion (GO:0007269)3.89143014
36long-term memory (GO:0007616)3.87862249
37transmission of nerve impulse (GO:0019226)3.86856750
38gamma-aminobutyric acid transport (GO:0015812)3.83933044
39regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.81309809
40membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.80427073
41regulation of postsynaptic membrane potential (GO:0060078)3.76063096
42presynaptic membrane organization (GO:0097090)3.73470140
43proline transport (GO:0015824)3.70847213
44cerebellar Purkinje cell differentiation (GO:0021702)3.70126876
45positive regulation of membrane potential (GO:0045838)3.64264560
46positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.63024297
47positive regulation of synapse maturation (GO:0090129)3.62944655
48axonal fasciculation (GO:0007413)3.62030848
49regulation of synaptic transmission, glutamatergic (GO:0051966)3.61100603
50dendritic spine morphogenesis (GO:0060997)3.58620028
51regulation of synapse structural plasticity (GO:0051823)3.55240600
52cellular potassium ion homeostasis (GO:0030007)3.54636265
53membrane depolarization during action potential (GO:0086010)3.53589282
54central nervous system myelination (GO:0022010)3.49661598
55axon ensheathment in central nervous system (GO:0032291)3.49661598
56mechanosensory behavior (GO:0007638)3.49049470
57regulation of dendritic spine morphogenesis (GO:0061001)3.48089953
58regulation of synaptic plasticity (GO:0048167)3.47666486
59startle response (GO:0001964)3.45052639
60behavioral defense response (GO:0002209)3.44986927
61behavioral fear response (GO:0001662)3.44986927
62cerebellar granule cell differentiation (GO:0021707)3.44559938
63synaptic vesicle endocytosis (GO:0048488)3.43431652
64long-term synaptic potentiation (GO:0060291)3.42231327
65membrane depolarization (GO:0051899)3.38760558
66behavioral response to nicotine (GO:0035095)3.36800291
67innervation (GO:0060384)3.36191013
68regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.35949043
69response to histamine (GO:0034776)3.34044843
70L-amino acid import (GO:0043092)3.33861771
71layer formation in cerebral cortex (GO:0021819)3.33631974
72nucleobase catabolic process (GO:0046113)3.32242674
73regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.32105509
74neurotransmitter transport (GO:0006836)3.31450312
75negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.30163046
76positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.24519571
77fear response (GO:0042596)3.22856083
78C4-dicarboxylate transport (GO:0015740)3.22077178
79cell migration in hindbrain (GO:0021535)3.21602988
80synapse assembly (GO:0007416)3.20164022
81regulation of neurotransmitter secretion (GO:0046928)3.18840369
82neuromuscular process controlling balance (GO:0050885)3.18139195
83membrane hyperpolarization (GO:0060081)3.18045771
84central nervous system neuron axonogenesis (GO:0021955)3.17909784
85positive regulation of synaptic transmission, GABAergic (GO:0032230)3.17803285
86dendrite morphogenesis (GO:0048813)3.16896811
87learning (GO:0007612)3.14538880
88regulation of vesicle fusion (GO:0031338)3.14436063
89cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.13528901
90serotonin metabolic process (GO:0042428)3.11614554
91primary amino compound metabolic process (GO:1901160)3.10278162
92establishment of mitochondrion localization (GO:0051654)3.10168849
93neuronal action potential (GO:0019228)3.09860701
94neuromuscular process controlling posture (GO:0050884)3.08340255
95regulation of synapse maturation (GO:0090128)3.07262170
96neuromuscular synaptic transmission (GO:0007274)3.07059607
97positive regulation of synapse assembly (GO:0051965)3.06051426
98positive regulation of dendritic spine morphogenesis (GO:0061003)3.02862493
99regulation of neurotransmitter levels (GO:0001505)3.02824509
100synaptic transmission (GO:0007268)3.02204759
101regulation of dendritic spine development (GO:0060998)3.01312286
102negative regulation of dendrite development (GO:2000171)3.01008799
103urinary tract smooth muscle contraction (GO:0014848)2.98521198
104neuromuscular process (GO:0050905)2.98180148
105regulation of synaptic transmission (GO:0050804)2.98008060
106positive regulation of dendritic spine development (GO:0060999)2.97745710
107adult walking behavior (GO:0007628)2.96093777
108negative regulation of cytosolic calcium ion concentration (GO:0051481)2.94196049
109neuronal ion channel clustering (GO:0045161)2.94188682
110cell communication by electrical coupling (GO:0010644)2.94091890
111regulation of respiratory system process (GO:0044065)2.93455257
112response to auditory stimulus (GO:0010996)2.92333955
113positive regulation of neurotransmitter secretion (GO:0001956)2.91881557
114activation of protein kinase A activity (GO:0034199)2.91398998
115central nervous system projection neuron axonogenesis (GO:0021952)2.91338269
116regulation of neurotransmitter transport (GO:0051588)2.91223383
117long term synaptic depression (GO:0060292)2.89932991
118regulation of synaptic transmission, GABAergic (GO:0032228)2.88175272
119regulation of glutamate secretion (GO:0014048)2.87408635
120sodium ion export (GO:0071436)2.87230335
121adult behavior (GO:0030534)2.82924208
122neurotransmitter uptake (GO:0001504)2.82679453
123potassium ion import (GO:0010107)2.78181130
124cerebral cortex radially oriented cell migration (GO:0021799)2.76454387
125synapse organization (GO:0050808)2.71408582
126positive regulation of phosphoprotein phosphatase activity (GO:0032516)2.70562934

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.16293148
2GBX2_23144817_ChIP-Seq_PC3_Human4.09324973
3JARID2_20064375_ChIP-Seq_MESCs_Mouse3.13453852
4* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.12031272
5* SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.04625706
6* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.68944199
7* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.68944199
8* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.63637810
9* JARID2_20075857_ChIP-Seq_MESCs_Mouse2.63490203
10* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.52949111
11EZH2_27304074_Chip-Seq_ESCs_Mouse2.51677182
12* REST_21632747_ChIP-Seq_MESCs_Mouse2.51154518
13* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.46958807
14* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.40866599
15* EED_16625203_ChIP-ChIP_MESCs_Mouse2.39156451
16* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.34882024
17DROSHA_22980978_ChIP-Seq_HELA_Human2.25360687
18RNF2_27304074_Chip-Seq_ESCs_Mouse2.17644614
19EZH2_27294783_Chip-Seq_ESCs_Mouse2.16202979
20SUZ12_27294783_Chip-Seq_ESCs_Mouse2.10978042
21GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.05246476
22RARB_27405468_Chip-Seq_BRAIN_Mouse2.04069680
23TAF15_26573619_Chip-Seq_HEK293_Human2.02540027
24IKZF1_21737484_ChIP-ChIP_HCT116_Human1.99437373
25ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.98422807
26AR_21572438_ChIP-Seq_LNCaP_Human1.97148546
27CTBP2_25329375_ChIP-Seq_LNCAP_Human1.95847891
28* REST_18959480_ChIP-ChIP_MESCs_Mouse1.90634930
29CTBP1_25329375_ChIP-Seq_LNCAP_Human1.85518854
30* ZFP57_27257070_Chip-Seq_ESCs_Mouse1.84891978
31SMAD4_21799915_ChIP-Seq_A2780_Human1.83338590
32CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.81235573
33* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.80899791
34PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.71264419
35P300_19829295_ChIP-Seq_ESCs_Human1.65035656
36BMI1_23680149_ChIP-Seq_NPCS_Mouse1.59674360
37* CBX2_27304074_Chip-Seq_ESCs_Mouse1.52077587
38GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.51887768
39NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.51790434
40* PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.51241807
41TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.50983614
42IGF1R_20145208_ChIP-Seq_DFB_Human1.48742067
43MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.45909306
44* RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.43418539
45SMAD3_21741376_ChIP-Seq_EPCs_Human1.42971967
46MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.41539987
47TOP2B_26459242_ChIP-Seq_MCF-7_Human1.39557761
48* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.39337680
49PIAS1_25552417_ChIP-Seq_VCAP_Human1.38221409
50AR_25329375_ChIP-Seq_VCAP_Human1.38189514
51POU3F2_20337985_ChIP-ChIP_501MEL_Human1.36826346
52EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.35745103
53* STAT3_23295773_ChIP-Seq_U87_Human1.35086921
54ERG_21242973_ChIP-ChIP_JURKAT_Human1.33351017
55RNF2_27304074_Chip-Seq_NSC_Mouse1.30907751
56* SOX2_21211035_ChIP-Seq_LN229_Gbm1.29674821
57NR3C1_23031785_ChIP-Seq_PC12_Mouse1.29506330
58* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.29377940
59* ZNF274_21170338_ChIP-Seq_K562_Hela1.29303009
60EWS_26573619_Chip-Seq_HEK293_Human1.23626683
61* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.22925691
62SMAD_19615063_ChIP-ChIP_OVARY_Human1.22737852
63* RING1B_27294783_Chip-Seq_ESCs_Mouse1.20973724
64FUS_26573619_Chip-Seq_HEK293_Human1.20185472
65CDX2_19796622_ChIP-Seq_MESCs_Mouse1.19633184
66HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.19230655
67* ARNT_22903824_ChIP-Seq_MCF-7_Human1.18542217
68CBP_20019798_ChIP-Seq_JUKART_Human1.17778967
69IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.17778967
70* TCF4_23295773_ChIP-Seq_U87_Human1.17606303
71AHR_22903824_ChIP-Seq_MCF-7_Human1.16831825
72VDR_22108803_ChIP-Seq_LS180_Human1.16733358
73* AR_19668381_ChIP-Seq_PC3_Human1.16435825
74AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.14718907
75CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.14016516
76TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.13855682
77SALL1_21062744_ChIP-ChIP_HESCs_Human1.13064545
78RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.12520819
79RUNX2_22187159_ChIP-Seq_PCA_Human1.11607766
80KDM2B_26808549_Chip-Seq_REH_Human1.10803164
81* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.10017428
82CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.09785559
83TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.09526922
84* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.09344505
85* LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.08664971
86FLI1_27457419_Chip-Seq_LIVER_Mouse1.07679049
87* RING1B_27294783_Chip-Seq_NPCs_Mouse1.07600592
88BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.07541891
89CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.07180454
90NANOG_18555785_Chip-Seq_ESCs_Mouse1.06782341
91MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.05940183
92* PRDM14_20953172_ChIP-Seq_ESCs_Human1.05916855
93* YAP1_20516196_ChIP-Seq_MESCs_Mouse1.05108396
94TP53_18474530_ChIP-ChIP_U2OS_Human1.04982278
95RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.04069185
96WT1_25993318_ChIP-Seq_PODOCYTE_Human1.03455887
97TP53_16413492_ChIP-PET_HCT116_Human1.03194592
98* TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.03075671
99* POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.03075671
100TCF4_22108803_ChIP-Seq_LS180_Human1.02957204
101* KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.02422721
102NR3C1_21868756_ChIP-Seq_MCF10A_Human1.02362826
103MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.02308924
104P53_22127205_ChIP-Seq_FIBROBLAST_Human1.01779950
105FLI1_21867929_ChIP-Seq_TH2_Mouse1.01469027
106ER_23166858_ChIP-Seq_MCF-7_Human1.00011993
107E2F1_18555785_Chip-Seq_ESCs_Mouse0.96794463
108* JUN_21703547_ChIP-Seq_K562_Human0.95922305
109BCAT_22108803_ChIP-Seq_LS180_Human0.95860693
110TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.93992250
111SMAD3_21741376_ChIP-Seq_HESCs_Human0.93977749
112TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.93924943
113SMAD4_21741376_ChIP-Seq_HESCs_Human0.92476096
114VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.90708657
115EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.89831419
116* SMAD3_21741376_ChIP-Seq_ESCs_Human0.89569289

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.04334664
2MP0003880_abnormal_central_pattern5.23791604
3MP0003635_abnormal_synaptic_transmissio3.99736277
4MP0004270_analgesia3.55624829
5MP0009745_abnormal_behavioral_response3.42882231
6MP0001968_abnormal_touch/_nociception3.37661318
7MP0009046_muscle_twitch3.33036977
8MP0002063_abnormal_learning/memory/cond3.22146055
9MP0002735_abnormal_chemical_nociception3.05278237
10MP0002064_seizures3.04103256
11MP0002572_abnormal_emotion/affect_behav2.87657154
12MP0002736_abnormal_nociception_after2.83794967
13MP0002272_abnormal_nervous_system2.75614835
14MP0005423_abnormal_somatic_nervous2.67855597
15MP0002734_abnormal_mechanical_nocicepti2.67677226
16MP0001486_abnormal_startle_reflex2.64265245
17MP0001501_abnormal_sleep_pattern2.32240722
18MP0001440_abnormal_grooming_behavior2.30009846
19* MP0002067_abnormal_sensory_capabilities2.18277187
20MP0002733_abnormal_thermal_nociception2.10386427
21MP0002822_catalepsy2.08963326
22MP0006276_abnormal_autonomic_nervous2.07820600
23MP0001970_abnormal_pain_threshold2.00966887
24* MP0002184_abnormal_innervation1.98751399
25MP0000778_abnormal_nervous_system1.96972081
26MP0004858_abnormal_nervous_system1.91087327
27MP0008569_lethality_at_weaning1.82790221
28MP0002557_abnormal_social/conspecific_i1.79519395
29MP0001188_hyperpigmentation1.70094477
30MP0005386_behavior/neurological_phenoty1.69377551
31MP0004924_abnormal_behavior1.69377551
32MP0005646_abnormal_pituitary_gland1.62733456
33MP0003787_abnormal_imprinting1.58649689
34MP0004811_abnormal_neuron_physiology1.57531952
35MP0003329_amyloid_beta_deposits1.54307210
36MP0001984_abnormal_olfaction1.54178372
37MP0000955_abnormal_spinal_cord1.53947646
38MP0003879_abnormal_hair_cell1.53187011
39MP0005645_abnormal_hypothalamus_physiol1.49693860
40MP0004142_abnormal_muscle_tone1.42581565
41MP0001529_abnormal_vocalization1.41955590
42* MP0002882_abnormal_neuron_morphology1.40535946
43* MP0002066_abnormal_motor_capabilities/c1.39065045
44MP0009780_abnormal_chondrocyte_physiolo1.37858138
45MP0000566_synostosis1.33221629
46MP0004742_abnormal_vestibular_system1.27636187
47MP0004885_abnormal_endolymph1.27176259
48MP0004145_abnormal_muscle_electrophysio1.26161727
49MP0001502_abnormal_circadian_rhythm1.19953648
50MP0003633_abnormal_nervous_system1.18178075
51MP0008877_abnormal_DNA_methylation1.18060302
52MP0002909_abnormal_adrenal_gland1.17390528
53MP0003122_maternal_imprinting1.16052467
54MP0001905_abnormal_dopamine_level1.15125496
55MP0002234_abnormal_pharynx_morphology1.06939503
56MP0002152_abnormal_brain_morphology1.06311697
57MP0003631_nervous_system_phenotype1.04470727
58MP0005409_darkened_coat_color1.01969264
59MP0001963_abnormal_hearing_physiology1.01284193
60MP0003283_abnormal_digestive_organ1.00377037
61MP0004043_abnormal_pH_regulation1.00343192
62MP0002229_neurodegeneration0.98220746
63MP0005253_abnormal_eye_physiology0.97633057
64MP0008872_abnormal_physiological_respon0.93818989
65MP0002876_abnormal_thyroid_physiology0.90808711
66MP0002938_white_spotting0.90781412
67MP0005551_abnormal_eye_electrophysiolog0.90234343
68MP0004133_heterotaxia0.89900473
69MP0005171_absent_coat_pigmentation0.89602372
70MP0004085_abnormal_heartbeat0.88714596
71* MP0002752_abnormal_somatic_nervous0.88475971
72MP0002069_abnormal_eating/drinking_beha0.88329078
73MP0003121_genomic_imprinting0.87577270
74MP0001485_abnormal_pinna_reflex0.87360349
75MP0005187_abnormal_penis_morphology0.85521026
76MP0002837_dystrophic_cardiac_calcinosis0.84921403
77MP0008874_decreased_physiological_sensi0.83470389
78MP0010386_abnormal_urinary_bladder0.82761370
79MP0003136_yellow_coat_color0.82574800
80MP0000751_myopathy0.82272922
81MP0006292_abnormal_olfactory_placode0.82016867
82MP0005499_abnormal_olfactory_system0.81973322
83MP0005394_taste/olfaction_phenotype0.81973322
84MP0003632_abnormal_nervous_system0.80789138
85MP0001177_atelectasis0.79849170
86MP0005535_abnormal_body_temperature0.79252987
87MP0004215_abnormal_myocardial_fiber0.77690760
88MP0006072_abnormal_retinal_apoptosis0.75961513
89MP0000631_abnormal_neuroendocrine_gland0.74638377
90MP0003119_abnormal_digestive_system0.73636655
91MP0002638_abnormal_pupillary_reflex0.73496424
92MP0003634_abnormal_glial_cell0.73121950
93MP0004484_altered_response_of0.70774780
94MP0000569_abnormal_digit_pigmentation0.70384034
95MP0005174_abnormal_tail_pigmentation0.69825407
96MP0005195_abnormal_posterior_eye0.69706248
97MP0000920_abnormal_myelination0.69690100
98MP0003137_abnormal_impulse_conducting0.68740567
99* MP0000026_abnormal_inner_ear0.67076287
100MP0001986_abnormal_taste_sensitivity0.63625454
101MP0005167_abnormal_blood-brain_barrier0.61947481
102MP0002653_abnormal_ependyma_morphology0.61007273
103MP0003698_abnormal_male_reproductive0.59987672
104MP0001664_abnormal_digestion0.58485254
105MP0000427_abnormal_hair_cycle0.58352616
106MP0003861_abnormal_nervous_system0.57441632
107MP0002102_abnormal_ear_morphology0.56630526
108MP0000604_amyloidosis0.56617765
109MP0003183_abnormal_peptide_metabolism0.55808337
110MP0001299_abnormal_eye_distance/0.55620428
111MP0004510_myositis0.55507523
112MP0003690_abnormal_glial_cell0.55494202
113MP0001943_abnormal_respiration0.54963013
114MP0002751_abnormal_autonomic_nervous0.54898853
115* MP0010769_abnormal_survival0.52090760
116MP0003938_abnormal_ear_development0.51783076
117* MP0002082_postnatal_lethality0.51200334
118* MP0010770_preweaning_lethality0.51200334
119MP0004147_increased_porphyrin_level0.50552888

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)8.89892775
2Myokymia (HP:0002411)6.55381977
3Focal seizures (HP:0007359)6.15064831
4Febrile seizures (HP:0002373)5.67962867
5Atonic seizures (HP:0010819)5.19505817
6Epileptic encephalopathy (HP:0200134)5.17499640
7Progressive cerebellar ataxia (HP:0002073)4.93940750
8Visual hallucinations (HP:0002367)4.83691865
9Action tremor (HP:0002345)4.50447104
10Absence seizures (HP:0002121)4.41250317
11Dialeptic seizures (HP:0011146)4.19291382
12Hyperventilation (HP:0002883)4.11623929
13Generalized tonic-clonic seizures (HP:0002069)4.07962808
14Broad-based gait (HP:0002136)3.98496204
15Gaze-evoked nystagmus (HP:0000640)3.87181896
16Amblyopia (HP:0000646)3.33463297
17Poor eye contact (HP:0000817)3.26417740
18Supranuclear gaze palsy (HP:0000605)3.25530936
19Dysdiadochokinesis (HP:0002075)3.15594044
20Truncal ataxia (HP:0002078)3.12000103
21Excessive salivation (HP:0003781)3.00300830
22Drooling (HP:0002307)3.00300830
23Dysmetria (HP:0001310)2.95529052
24Impaired social interactions (HP:0000735)2.95176902
25Abnormal social behavior (HP:0012433)2.95176902
26Hemiparesis (HP:0001269)2.91535408
27Scanning speech (HP:0002168)2.85299825
28Absent speech (HP:0001344)2.84284609
29Anxiety (HP:0000739)2.79680309
30Impaired vibration sensation in the lower limbs (HP:0002166)2.79539562
31Genetic anticipation (HP:0003743)2.78480254
32Abnormal eating behavior (HP:0100738)2.70509260
33Diplopia (HP:0000651)2.67810908
34Abnormality of binocular vision (HP:0011514)2.67810908
35Impaired smooth pursuit (HP:0007772)2.66284683
36Fetal akinesia sequence (HP:0001989)2.64550505
37Progressive inability to walk (HP:0002505)2.64449974
38True hermaphroditism (HP:0010459)2.63260030
39Nephronophthisis (HP:0000090)2.60069001
40Urinary bladder sphincter dysfunction (HP:0002839)2.59566783
41Depression (HP:0000716)2.56203267
42Pancreatic fibrosis (HP:0100732)2.55458488
43Epileptiform EEG discharges (HP:0011182)2.51550911
44Inability to walk (HP:0002540)2.49389289
45Megalencephaly (HP:0001355)2.49065067
46Ankle clonus (HP:0011448)2.48315584
47Pancreatic cysts (HP:0001737)2.44218372
48Lissencephaly (HP:0001339)2.39256225
49Ulnar claw (HP:0001178)2.35184039
50Abnormality of ocular smooth pursuit (HP:0000617)2.34981708
51Mutism (HP:0002300)2.34710970
52Abnormality of midbrain morphology (HP:0002418)2.33092582
53Molar tooth sign on MRI (HP:0002419)2.33092582
54Status epilepticus (HP:0002133)2.32933132
55Chronic hepatic failure (HP:0100626)2.29927368
56EEG with generalized epileptiform discharges (HP:0011198)2.28772894
57Spastic gait (HP:0002064)2.28561716
58Postural instability (HP:0002172)2.27848800
59Abnormality of the lower motor neuron (HP:0002366)2.27331327
60Hemiplegia (HP:0002301)2.25396825
61Stereotypic behavior (HP:0000733)2.24729804
62Protruding tongue (HP:0010808)2.20647260
63Abnormality of the renal medulla (HP:0100957)2.17814688
64Decreased number of large peripheral myelinated nerve fibers (HP:0003387)2.16708422
65Abnormality of the corticospinal tract (HP:0002492)2.16665604
66Termporal pattern (HP:0011008)2.15656148
67Insidious onset (HP:0003587)2.15656148
68Intention tremor (HP:0002080)2.15145110
69Dysmetric saccades (HP:0000641)2.13839299
70Type II lissencephaly (HP:0007260)2.12704252
71Blue irides (HP:0000635)2.12068093
72Optic nerve hypoplasia (HP:0000609)2.11246841
73Abnormality of salivation (HP:0100755)2.10237832
74Hypsarrhythmia (HP:0002521)2.10143036
75Congenital stationary night blindness (HP:0007642)2.09416562
76Urinary urgency (HP:0000012)2.09284635
77Bradykinesia (HP:0002067)2.05872065
78Prolonged QT interval (HP:0001657)2.05309227
79Agitation (HP:0000713)2.02538611
80Pachygyria (HP:0001302)2.02246385
81Polyphagia (HP:0002591)2.01170398
82Pheochromocytoma (HP:0002666)1.98947396
83Stomach cancer (HP:0012126)1.97822013
84Cerebral inclusion bodies (HP:0100314)1.96730586
85Abnormality of the labia minora (HP:0012880)1.96064537
86Increased corneal curvature (HP:0100692)1.95543920
87Keratoconus (HP:0000563)1.95543920
88Neurofibrillary tangles (HP:0002185)1.94114023
89Impaired vibratory sensation (HP:0002495)1.93830550
90Generalized myoclonic seizures (HP:0002123)1.92127499
91Incomplete penetrance (HP:0003829)1.91296911
92Intellectual disability, severe (HP:0010864)1.90520545
93Gait ataxia (HP:0002066)1.87766654
94Limb dystonia (HP:0002451)1.85092950
95Cystic liver disease (HP:0006706)1.84968018
96Lower limb muscle weakness (HP:0007340)1.84220851
97Gait imbalance (HP:0002141)1.83430972
98Horizontal nystagmus (HP:0000666)1.82688996
99Cutaneous finger syndactyly (HP:0010554)1.81380125
100Torticollis (HP:0000473)1.80775413
101Aqueductal stenosis (HP:0002410)1.80265256
102Tented upper lip vermilion (HP:0010804)1.79702287
103Aplasia/Hypoplasia of the tibia (HP:0005772)1.79246529
104Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.79240153
105Psychosis (HP:0000709)1.77768771
106Amyotrophic lateral sclerosis (HP:0007354)1.76804474
107Bradycardia (HP:0001662)1.74333478
108Deeply set eye (HP:0000490)1.73841186
109Akinesia (HP:0002304)1.73726335
110Morphological abnormality of the pyramidal tract (HP:0002062)1.73369115
111Exotropia (HP:0000577)1.73362249
112Specific learning disability (HP:0001328)1.72903003
113Spastic tetraplegia (HP:0002510)1.71840280
114Generalized hypopigmentation of hair (HP:0011358)1.71808532
115Autism (HP:0000717)1.71657357
116Papilledema (HP:0001085)1.71526893
117Inappropriate behavior (HP:0000719)1.71524625
118Focal dystonia (HP:0004373)1.71499215
119Neuroendocrine neoplasm (HP:0100634)1.71220354
120Attenuation of retinal blood vessels (HP:0007843)1.69897185
121Syncope (HP:0001279)1.69827931
122Absent/shortened dynein arms (HP:0200106)1.69077358
123Dynein arm defect of respiratory motile cilia (HP:0012255)1.69077358
124Abnormal EKG (HP:0003115)1.68449350
125Medial flaring of the eyebrow (HP:0010747)1.66700170
126Fair hair (HP:0002286)1.66179098
127Obstructive sleep apnea (HP:0002870)1.66128334
128Widely spaced teeth (HP:0000687)1.65593987
129Ventricular fibrillation (HP:0001663)1.65462796
130Clumsiness (HP:0002312)1.64850400
131Intestinal atresia (HP:0011100)1.64815616
132Abnormal drinking behavior (HP:0030082)1.63239048
133Polydipsia (HP:0001959)1.63239048
134Oligodactyly (hands) (HP:0001180)1.63103890
135Retinal dysplasia (HP:0007973)1.62993926

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA44.59097417
2* NTRK34.52344522
3FRK3.38811855
4CASK3.19969739
5MAP3K43.07450434
6MAP3K93.02504670
7MARK12.90335253
8MAP2K72.79067540
9MINK12.68275241
10RIPK42.41489204
11TNIK2.27673461
12NTRK22.07647311
13MAP3K121.99052247
14MAP2K41.96277618
15MAPK131.85634750
16DAPK21.81867586
17PAK61.77984575
18PRPF4B1.69642745
19PNCK1.61127312
20GRK51.60070877
21SIK21.57108451
22NTRK11.55117539
23PLK21.51916162
24KSR11.48757771
25DYRK21.47171081
26CDK51.43312050
27KSR21.41379889
28DAPK11.39505480
29FES1.37470703
30PRKCG1.36382840
31BMPR1B1.35636284
32CAMKK11.35424526
33STK381.24992417
34BMPR21.20729178
35CAMK2A1.19798897
36CAMKK21.17837438
37CAMK2B1.10902764
38PKN11.09588724
39PHKG11.08329087
40PHKG21.08329087
41CDK191.06450084
42FGFR21.00971856
43MAP4K21.00612307
44SGK21.00287684
45SIK31.00047123
46INSRR0.99765766
47MAP3K130.98875153
48ARAF0.98768599
49SGK2230.94290413
50SGK4940.94290413
51WNK10.93682435
52PRKD30.89321731
53LATS20.88727740
54CAMK10.87676426
55UHMK10.86690979
56GRK70.86099418
57LMTK20.81985258
58PTK2B0.80243055
59OXSR10.77708185
60SGK10.75936400
61STK390.75409457
62AKT30.75253235
63MARK20.75241225
64MAP3K20.75188822
65DYRK1A0.75144168
66CDK180.74778985
67TYRO30.72790145
68NME10.72311069
69ERBB30.71651998
70CDK150.70664333
71CDK140.68413327
72NEK60.68348404
73ACVR1B0.67658686
74GRK10.66929420
75CAMK1G0.66366649
76MKNK20.66096128
77STK110.65358876
78PRKCE0.64871220
79SGK30.64113566
80CCNB10.64066026
81PAK30.63004257
82PIK3CA0.62857719
83CAMK2D0.62052038
84MUSK0.61699593
85FER0.60782805
86RET0.60597084
87CDK11A0.60175362
88PINK10.59873252
89CSNK1G20.59642795
90FGR0.58475742
91WNK40.58063261
92CAMK2G0.57730714
93RAF10.56120728
94ADRBK20.55624726
95TNK20.55330966
96PRKCH0.54355398
97MAP3K60.54060157
98EPHB20.53130191
99CDC42BPA0.51133881
100CSNK1G10.50657830
101PDK10.48988315
102CSNK1A1L0.48688312
103RPS6KA30.48105260
104TRIM280.47720837
105CSNK1G30.47485528
106PDPK10.47170901
107CSNK1D0.47139106
108CAMK40.47061938
109ERBB20.46390166
110PRKCZ0.44520814
111TAOK10.44415642
112BCR0.42669906
113ADRBK10.42661656
114MAPK100.42106580
115PRKG10.41152736
116PRKACA0.40761202
117FYN0.40587053
118ROCK10.40510806
119CSNK1A10.40342281
120WNK30.39581697
121CDK30.38911258
122MAPK150.37554703
123PRKCB0.35689268
124MAP2K10.34441768
125TAF10.34382185
126PRKACB0.34067466
127PRKCA0.33678543
128GSK3B0.33503543
129ROCK20.33388033

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.37193498
2Synaptic vesicle cycle_Homo sapiens_hsa047212.95216619
3Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.90166922
4Long-term potentiation_Homo sapiens_hsa047202.82276183
5Glutamatergic synapse_Homo sapiens_hsa047242.78983985
6Circadian entrainment_Homo sapiens_hsa047132.78029307
7GABAergic synapse_Homo sapiens_hsa047272.64938644
8Morphine addiction_Homo sapiens_hsa050322.56906669
9Amphetamine addiction_Homo sapiens_hsa050312.50052383
10Olfactory transduction_Homo sapiens_hsa047402.49609851
11Taste transduction_Homo sapiens_hsa047422.29042468
12Salivary secretion_Homo sapiens_hsa049702.25805518
13Dopaminergic synapse_Homo sapiens_hsa047282.16882848
14Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.02570198
15Long-term depression_Homo sapiens_hsa047301.91688832
16Serotonergic synapse_Homo sapiens_hsa047261.89642891
17Insulin secretion_Homo sapiens_hsa049111.89000561
18Cholinergic synapse_Homo sapiens_hsa047251.83863082
19Gastric acid secretion_Homo sapiens_hsa049711.81001145
20Calcium signaling pathway_Homo sapiens_hsa040201.80892296
21Aldosterone synthesis and secretion_Homo sapiens_hsa049251.78767059
22Renin secretion_Homo sapiens_hsa049241.72695766
23Oxytocin signaling pathway_Homo sapiens_hsa049211.63645620
24Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.57871318
25Cocaine addiction_Homo sapiens_hsa050301.56261655
26Collecting duct acid secretion_Homo sapiens_hsa049661.52233488
27Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.43289371
28GnRH signaling pathway_Homo sapiens_hsa049121.41015719
29cAMP signaling pathway_Homo sapiens_hsa040241.38412351
30Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.34235840
31Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.32312748
32Axon guidance_Homo sapiens_hsa043601.27736948
33Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.24916910
34Gap junction_Homo sapiens_hsa045401.24875217
35Phosphatidylinositol signaling system_Homo sapiens_hsa040701.24128574
36Butanoate metabolism_Homo sapiens_hsa006501.22194077
37Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050141.14882862
38Type II diabetes mellitus_Homo sapiens_hsa049301.14261149
39Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.13571501
40Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.11055476
41Cardiac muscle contraction_Homo sapiens_hsa042601.10632635
42Nitrogen metabolism_Homo sapiens_hsa009101.05700084
43Estrogen signaling pathway_Homo sapiens_hsa049151.04082517
44Phototransduction_Homo sapiens_hsa047441.03978689
45cGMP-PKG signaling pathway_Homo sapiens_hsa040221.02730087
46ErbB signaling pathway_Homo sapiens_hsa040120.99641778
47Melanogenesis_Homo sapiens_hsa049160.98742755
48Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.98480909
49Vascular smooth muscle contraction_Homo sapiens_hsa042700.95714025
50Glioma_Homo sapiens_hsa052140.95391620
51Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.94347838
52Pancreatic secretion_Homo sapiens_hsa049720.90303750
53Vibrio cholerae infection_Homo sapiens_hsa051100.86287633
54Phospholipase D signaling pathway_Homo sapiens_hsa040720.85346051
55Choline metabolism in cancer_Homo sapiens_hsa052310.82202136
56Dorso-ventral axis formation_Homo sapiens_hsa043200.81409786
57Ether lipid metabolism_Homo sapiens_hsa005650.77402388
58Fatty acid biosynthesis_Homo sapiens_hsa000610.77380115
59alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.74189632
60Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.73045540
61MAPK signaling pathway_Homo sapiens_hsa040100.72771478
62Alzheimers disease_Homo sapiens_hsa050100.71776136
63Dilated cardiomyopathy_Homo sapiens_hsa054140.71664865
64Oocyte meiosis_Homo sapiens_hsa041140.71619720
65Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.71349188
66Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.70688969
67Thyroid hormone synthesis_Homo sapiens_hsa049180.70322493
68Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.70141933
69Linoleic acid metabolism_Homo sapiens_hsa005910.69517797
70ABC transporters_Homo sapiens_hsa020100.67321658
71Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.66477659
72Histidine metabolism_Homo sapiens_hsa003400.66311751
73Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.65549792
74Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.64603386
75Ras signaling pathway_Homo sapiens_hsa040140.63068567
76Rap1 signaling pathway_Homo sapiens_hsa040150.57920421
77Inositol phosphate metabolism_Homo sapiens_hsa005620.56039083
78Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.55235493
79Hedgehog signaling pathway_Homo sapiens_hsa043400.54900202
80Oxidative phosphorylation_Homo sapiens_hsa001900.54810919
81Glucagon signaling pathway_Homo sapiens_hsa049220.53123922
82African trypanosomiasis_Homo sapiens_hsa051430.51696846
83Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.50223906
84VEGF signaling pathway_Homo sapiens_hsa043700.50171472
85Sphingolipid signaling pathway_Homo sapiens_hsa040710.49032844
86Glycerolipid metabolism_Homo sapiens_hsa005610.48226048
87Carbohydrate digestion and absorption_Homo sapiens_hsa049730.47770037
88Wnt signaling pathway_Homo sapiens_hsa043100.46325257
89beta-Alanine metabolism_Homo sapiens_hsa004100.45506548
90Hippo signaling pathway_Homo sapiens_hsa043900.43632544
91* Neurotrophin signaling pathway_Homo sapiens_hsa047220.43436402
92Vitamin B6 metabolism_Homo sapiens_hsa007500.43407084
93Circadian rhythm_Homo sapiens_hsa047100.42815303
94Tryptophan metabolism_Homo sapiens_hsa003800.42440000
95Ovarian steroidogenesis_Homo sapiens_hsa049130.41870075
96Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.41218686
97Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.41034431
98Type I diabetes mellitus_Homo sapiens_hsa049400.40170568
99Thyroid hormone signaling pathway_Homo sapiens_hsa049190.39612092
100Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.37371653
101Alcoholism_Homo sapiens_hsa050340.36574705
102Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.36568083
103Basal cell carcinoma_Homo sapiens_hsa052170.30941818
104mTOR signaling pathway_Homo sapiens_hsa041500.30729521
105Parkinsons disease_Homo sapiens_hsa050120.30206239
106Rheumatoid arthritis_Homo sapiens_hsa053230.29593448
107Longevity regulating pathway - mammal_Homo sapiens_hsa042110.29582665
108Steroid biosynthesis_Homo sapiens_hsa001000.29198871
109Glycerophospholipid metabolism_Homo sapiens_hsa005640.28671526
110SNARE interactions in vesicular transport_Homo sapiens_hsa041300.28245994
111Bile secretion_Homo sapiens_hsa049760.28149886
112Primary bile acid biosynthesis_Homo sapiens_hsa001200.27981495
113Huntingtons disease_Homo sapiens_hsa050160.27939998
114Mineral absorption_Homo sapiens_hsa049780.27702340
115Maturity onset diabetes of the young_Homo sapiens_hsa049500.27692524
116Endometrial cancer_Homo sapiens_hsa052130.27354825
117Insulin signaling pathway_Homo sapiens_hsa049100.27167707
118Melanoma_Homo sapiens_hsa052180.26031214
119Steroid hormone biosynthesis_Homo sapiens_hsa001400.25473596
120Non-small cell lung cancer_Homo sapiens_hsa052230.25434328
121Endocytosis_Homo sapiens_hsa041440.24766299
122Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.24183076
123Chemokine signaling pathway_Homo sapiens_hsa040620.23845731
124Renal cell carcinoma_Homo sapiens_hsa052110.23829650

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