CNTN1

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: The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Multiple alternatively spliced 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
1neuron cell-cell adhesion (GO:0007158)5.74025095
2regulation of short-term neuronal synaptic plasticity (GO:0048172)5.47768745
3locomotory exploration behavior (GO:0035641)5.27326466
4vocalization behavior (GO:0071625)5.18147095
5positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.11429492
6synaptic vesicle exocytosis (GO:0016079)5.06127509
7synaptic vesicle maturation (GO:0016188)4.95951047
8regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.95126308
9glutamate secretion (GO:0014047)4.75878248
10regulation of synaptic vesicle exocytosis (GO:2000300)4.72657530
11neuronal action potential propagation (GO:0019227)4.69135927
12positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.62105502
13presynaptic membrane assembly (GO:0097105)4.61310507
14protein localization to synapse (GO:0035418)4.58110682
15regulation of glutamate receptor signaling pathway (GO:1900449)4.47298565
16ionotropic glutamate receptor signaling pathway (GO:0035235)4.44652722
17sodium ion export (GO:0071436)4.35482728
18exploration behavior (GO:0035640)4.33808166
19presynaptic membrane organization (GO:0097090)4.16084898
20neurotransmitter-gated ion channel clustering (GO:0072578)4.15278564
21regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.13844931
22regulation of synaptic vesicle transport (GO:1902803)4.11996075
23glutamate receptor signaling pathway (GO:0007215)4.10990770
24synaptic transmission, glutamatergic (GO:0035249)4.07392239
25neurotransmitter secretion (GO:0007269)4.06590036
26transmission of nerve impulse (GO:0019226)4.03953845
27neuron-neuron synaptic transmission (GO:0007270)4.00921539
28postsynaptic membrane organization (GO:0001941)3.98824981
29synaptic vesicle docking involved in exocytosis (GO:0016081)3.93370494
30gamma-aminobutyric acid transport (GO:0015812)3.90669944
31regulation of long-term neuronal synaptic plasticity (GO:0048169)3.84147347
32regulation of neuronal synaptic plasticity (GO:0048168)3.76864250
33gamma-aminobutyric acid signaling pathway (GO:0007214)3.75437612
34neuron recognition (GO:0008038)3.73989955
35potassium ion homeostasis (GO:0055075)3.70212128
36cerebellar granule cell differentiation (GO:0021707)3.65194565
37regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.62996850
38cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.60886447
39positive regulation of membrane potential (GO:0045838)3.58427659
40regulation of excitatory postsynaptic membrane potential (GO:0060079)3.54583393
41proline transport (GO:0015824)3.52405518
42long-term synaptic potentiation (GO:0060291)3.52040265
43layer formation in cerebral cortex (GO:0021819)3.51988645
44negative regulation of synaptic transmission, GABAergic (GO:0032229)3.50908168
45axon ensheathment in central nervous system (GO:0032291)3.50240727
46central nervous system myelination (GO:0022010)3.50240727
47potassium ion import (GO:0010107)3.49744381
48neurotransmitter transport (GO:0006836)3.44476753
49regulation of synapse structural plasticity (GO:0051823)3.42617084
50detection of calcium ion (GO:0005513)3.41673609
51regulation of synaptic transmission, glutamatergic (GO:0051966)3.41448668
52membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.41316575
53regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.40686452
54regulation of postsynaptic membrane potential (GO:0060078)3.40342642
55long-term memory (GO:0007616)3.38615552
56dendritic spine morphogenesis (GO:0060997)3.36959919
57neurotransmitter uptake (GO:0001504)3.33374550
58negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.31923434
59positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.31362415
60synapse assembly (GO:0007416)3.28875743
61G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.28179286
62axonal fasciculation (GO:0007413)3.28079497
63amino acid import (GO:0043090)3.25506611
64regulation of synaptic plasticity (GO:0048167)3.25133608
65synaptic vesicle endocytosis (GO:0048488)3.24954539
66cellular sodium ion homeostasis (GO:0006883)3.24940430
67regulation of neurotransmitter secretion (GO:0046928)3.21177654
68regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.20539461
69cell communication by electrical coupling (GO:0010644)3.20490597
70negative regulation of neurotransmitter transport (GO:0051589)3.19262943
71cerebellar Purkinje cell differentiation (GO:0021702)3.18141512
72regulation of neurotransmitter levels (GO:0001505)3.17136967
73innervation (GO:0060384)3.17004307
74positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.16759747
75serotonin metabolic process (GO:0042428)3.16574085
76cellular potassium ion homeostasis (GO:0030007)3.16162301
77positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.15827363
78positive regulation of neurotransmitter transport (GO:0051590)3.12730844
79mechanosensory behavior (GO:0007638)3.11225787
80dendrite morphogenesis (GO:0048813)3.11181049
81positive regulation of dendritic spine development (GO:0060999)3.10296908
82positive regulation of synapse maturation (GO:0090129)3.10195573
83neuronal ion channel clustering (GO:0045161)3.09624710
84neuromuscular process controlling posture (GO:0050884)3.08987126
85regulation of synapse maturation (GO:0090128)3.07855538
86regulation of dendritic spine morphogenesis (GO:0061001)3.07186416
87startle response (GO:0001964)3.06906404
88membrane hyperpolarization (GO:0060081)3.06892045
89positive regulation of synaptic transmission, GABAergic (GO:0032230)3.05148194
90positive regulation of synapse assembly (GO:0051965)3.04697920
91adult walking behavior (GO:0007628)3.04512822
92response to histamine (GO:0034776)3.04287028
93cerebellar Purkinje cell layer development (GO:0021680)3.04053773
94membrane depolarization (GO:0051899)3.03057841
95regulation of vesicle fusion (GO:0031338)3.02618853
96auditory behavior (GO:0031223)3.01507317
97negative regulation of dendrite morphogenesis (GO:0050774)3.00726994
98negative regulation of cytosolic calcium ion concentration (GO:0051481)2.98763373
99synapse organization (GO:0050808)2.98101380
100regulation of neurotransmitter transport (GO:0051588)2.98005072
101cell migration in hindbrain (GO:0021535)2.97636184
102learning (GO:0007612)2.96772370
103positive regulation of neurotransmitter secretion (GO:0001956)2.96436554
104activation of protein kinase A activity (GO:0034199)2.95623387
105regulation of voltage-gated calcium channel activity (GO:1901385)2.94847947
106vesicle transport along microtubule (GO:0047496)2.94126566
107cell communication involved in cardiac conduction (GO:0086065)2.93945910
108neuromuscular process controlling balance (GO:0050885)2.92328768
109response to auditory stimulus (GO:0010996)2.92293154
110membrane depolarization during action potential (GO:0086010)2.91980997
111synaptic transmission (GO:0007268)2.88970409
112mating behavior (GO:0007617)2.88151988
113acidic amino acid transport (GO:0015800)2.87844190
114signal release (GO:0023061)2.86295560
115establishment of mitochondrion localization (GO:0051654)2.84428487
116regulation of synaptic transmission (GO:0050804)2.83225515
117regulation of synaptic transmission, GABAergic (GO:0032228)2.82876473
118positive regulation of synaptic transmission (GO:0050806)2.82074166
119dendrite development (GO:0016358)2.79833811
120organelle transport along microtubule (GO:0072384)2.79268296
121negative regulation of neurotransmitter secretion (GO:0046929)2.78270838
122L-amino acid import (GO:0043092)2.77642116
123regulation of respiratory system process (GO:0044065)2.75851454
124regulation of dendritic spine development (GO:0060998)2.75556344
125neuromuscular process (GO:0050905)2.75315799
126behavioral fear response (GO:0001662)2.75241022
127behavioral defense response (GO:0002209)2.75241022

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.25513884
2* GBX2_23144817_ChIP-Seq_PC3_Human4.07412438
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.09323466
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.01718934
5JARID2_20064375_ChIP-Seq_MESCs_Mouse3.01239950
6EZH2_18974828_ChIP-Seq_MESCs_Mouse2.56263801
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.56263801
8REST_21632747_ChIP-Seq_MESCs_Mouse2.55337407
9SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.53428817
10EZH2_27304074_Chip-Seq_ESCs_Mouse2.49550746
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.47526758
12SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.45252411
13SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.41295858
14MTF2_20144788_ChIP-Seq_MESCs_Mouse2.40112426
15TAF15_26573619_Chip-Seq_HEK293_Human2.37294823
16* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.36942972
17EED_16625203_ChIP-ChIP_MESCs_Mouse2.25918410
18DROSHA_22980978_ChIP-Seq_HELA_Human2.21155155
19AR_21572438_ChIP-Seq_LNCaP_Human2.20547865
20EZH2_27294783_Chip-Seq_ESCs_Mouse2.12188388
21SUZ12_27294783_Chip-Seq_ESCs_Mouse2.10175174
22CTBP2_25329375_ChIP-Seq_LNCAP_Human2.09477513
23RARB_27405468_Chip-Seq_BRAIN_Mouse2.08444289
24RNF2_27304074_Chip-Seq_ESCs_Mouse2.06632665
25REST_18959480_ChIP-ChIP_MESCs_Mouse2.04940297
26NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.03218858
27GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.94558863
28CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.94150587
29ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.93216353
30ZFP57_27257070_Chip-Seq_ESCs_Mouse1.93025789
31* CTBP1_25329375_ChIP-Seq_LNCAP_Human1.92501375
32* SMAD4_21799915_ChIP-Seq_A2780_Human1.79786776
33PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.72838119
34SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.70443443
35* P300_19829295_ChIP-Seq_ESCs_Human1.64206659
36IKZF1_21737484_ChIP-ChIP_HCT116_Human1.62721260
37* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.61480062
38TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.61234270
39OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.52533486
40SMAD3_21741376_ChIP-Seq_EPCs_Human1.49274987
41SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.48826524
42CBX2_27304074_Chip-Seq_ESCs_Mouse1.48211180
43ZNF274_21170338_ChIP-Seq_K562_Hela1.47823555
44* POU3F2_20337985_ChIP-ChIP_501MEL_Human1.47055259
45PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.44105840
46PIAS1_25552417_ChIP-Seq_VCAP_Human1.43933455
47GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.43534857
48TOP2B_26459242_ChIP-Seq_MCF-7_Human1.42800578
49BMI1_23680149_ChIP-Seq_NPCS_Mouse1.41301590
50RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.40914128
51RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.40813470
52* STAT3_23295773_ChIP-Seq_U87_Human1.40174672
53NR3C1_23031785_ChIP-Seq_PC12_Mouse1.38719478
54SOX2_21211035_ChIP-Seq_LN229_Gbm1.38700961
55AR_25329375_ChIP-Seq_VCAP_Human1.35474502
56FUS_26573619_Chip-Seq_HEK293_Human1.32303588
57MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.31755478
58IGF1R_20145208_ChIP-Seq_DFB_Human1.31739746
59RNF2_27304074_Chip-Seq_NSC_Mouse1.27717006
60FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.26372456
61CDX2_19796622_ChIP-Seq_MESCs_Mouse1.24718819
62EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.24596443
63ER_23166858_ChIP-Seq_MCF-7_Human1.23802529
64SMAD_19615063_ChIP-ChIP_OVARY_Human1.22102005
65AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.22028386
66TCF4_23295773_ChIP-Seq_U87_Human1.21850169
67TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.19801739
68CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.19044797
69ERG_21242973_ChIP-ChIP_JURKAT_Human1.18659872
70VDR_22108803_ChIP-Seq_LS180_Human1.18010257
71P53_22127205_ChIP-Seq_FIBROBLAST_Human1.15049640
72ARNT_22903824_ChIP-Seq_MCF-7_Human1.14572482
73* RING1B_27294783_Chip-Seq_ESCs_Mouse1.14506540
74* AR_19668381_ChIP-Seq_PC3_Human1.14073415
75ZNF217_24962896_ChIP-Seq_MCF-7_Human1.12861570
76RUNX2_22187159_ChIP-Seq_PCA_Human1.09906491
77AHR_22903824_ChIP-Seq_MCF-7_Human1.09652216
78UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.08726736
79PRDM14_20953172_ChIP-Seq_ESCs_Human1.08336404
80MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.07781019
81TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.07419510
82LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.04984937
83RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.04291962
84TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.03932975
85YAP1_20516196_ChIP-Seq_MESCs_Mouse1.03738533
86VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.02836576
87JUN_21703547_ChIP-Seq_K562_Human1.02608689
88NANOG_18555785_Chip-Seq_ESCs_Mouse1.02322839
89POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.01214638
90TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.01214638
91* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.01115580
92NR3C1_21868756_ChIP-Seq_MCF10A_Human0.99470702
93RING1B_27294783_Chip-Seq_NPCs_Mouse0.99130056
94CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.97345072
95P53_22387025_ChIP-Seq_ESCs_Mouse0.96700126
96EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.96270729
97SMAD3_21741376_ChIP-Seq_HESCs_Human0.95887753
98CMYC_18555785_Chip-Seq_ESCs_Mouse0.95266944
99* SMAD3_21741376_ChIP-Seq_ESCs_Human0.95075242
100PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.93099517
101BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.92722536
102CTNNB1_20460455_ChIP-Seq_HCT116_Human0.91775073
103KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.91729142
104* TAL1_26923725_Chip-Seq_HPCs_Mouse0.91301455
105IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.90422151
106CBP_20019798_ChIP-Seq_JUKART_Human0.90422151
107SMAD4_21741376_ChIP-Seq_HESCs_Human0.90354789
108TP53_18474530_ChIP-ChIP_U2OS_Human0.89823943
109TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.89139332
110TP53_16413492_ChIP-PET_HCT116_Human0.89121031
111E2F1_18555785_Chip-Seq_ESCs_Mouse0.88537211
112* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.88491249
113BCAT_22108803_ChIP-Seq_LS180_Human0.88270863
114KDM2B_26808549_Chip-Seq_REH_Human0.87611290

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.47826639
2MP0003880_abnormal_central_pattern5.20337768
3MP0003635_abnormal_synaptic_transmissio3.92820442
4MP0004270_analgesia3.83012377
5MP0009745_abnormal_behavioral_response3.35196541
6MP0009046_muscle_twitch3.31568363
7MP0002064_seizures3.22460539
8MP0002063_abnormal_learning/memory/cond3.11638390
9MP0001968_abnormal_touch/_nociception2.98062367
10MP0002272_abnormal_nervous_system2.79718252
11MP0002572_abnormal_emotion/affect_behav2.78495683
12MP0002734_abnormal_mechanical_nocicepti2.72799781
13MP0005423_abnormal_somatic_nervous2.72777134
14MP0001486_abnormal_startle_reflex2.65646641
15MP0002735_abnormal_chemical_nociception2.51293554
16MP0002736_abnormal_nociception_after2.47121806
17MP0001501_abnormal_sleep_pattern2.29900557
18MP0001440_abnormal_grooming_behavior2.23350485
19MP0002067_abnormal_sensory_capabilities2.17869448
20MP0002733_abnormal_thermal_nociception2.12544958
21MP0000778_abnormal_nervous_system2.06164045
22MP0006276_abnormal_autonomic_nervous2.04782162
23MP0002822_catalepsy2.04158118
24MP0001970_abnormal_pain_threshold1.96436606
25MP0003329_amyloid_beta_deposits1.94281201
26MP0002184_abnormal_innervation1.88370444
27MP0001529_abnormal_vocalization1.86886464
28MP0005386_behavior/neurological_phenoty1.84966179
29MP0004924_abnormal_behavior1.84966179
30MP0008569_lethality_at_weaning1.83222254
31MP0004858_abnormal_nervous_system1.81554678
32MP0004142_abnormal_muscle_tone1.72399719
33MP0002557_abnormal_social/conspecific_i1.70772239
34MP0009780_abnormal_chondrocyte_physiolo1.70285221
35MP0001905_abnormal_dopamine_level1.69669407
36MP0005646_abnormal_pituitary_gland1.67271169
37MP0001984_abnormal_olfaction1.66953762
38MP0000955_abnormal_spinal_cord1.66345464
39MP0004811_abnormal_neuron_physiology1.61949004
40MP0004885_abnormal_endolymph1.57872985
41MP0005645_abnormal_hypothalamus_physiol1.54425220
42* MP0002882_abnormal_neuron_morphology1.51701548
43MP0000920_abnormal_myelination1.48670820
44* MP0002066_abnormal_motor_capabilities/c1.48164112
45MP0003879_abnormal_hair_cell1.42414598
46MP0004742_abnormal_vestibular_system1.41879896
47MP0003283_abnormal_digestive_organ1.37470130
48MP0003787_abnormal_imprinting1.33240971
49MP0002638_abnormal_pupillary_reflex1.29651936
50MP0002909_abnormal_adrenal_gland1.29493358
51MP0001502_abnormal_circadian_rhythm1.26989724
52MP0003123_paternal_imprinting1.25821380
53MP0003633_abnormal_nervous_system1.23148158
54MP0002229_neurodegeneration1.23054084
55MP0001188_hyperpigmentation1.22690086
56MP0003122_maternal_imprinting1.20824022
57MP0003634_abnormal_glial_cell1.19800839
58MP0003690_abnormal_glial_cell1.18479361
59MP0003631_nervous_system_phenotype1.15603547
60MP0005551_abnormal_eye_electrophysiolog1.11960742
61* MP0002152_abnormal_brain_morphology1.10438658
62MP0008877_abnormal_DNA_methylation1.09254040
63MP0003632_abnormal_nervous_system1.04783929
64MP0005171_absent_coat_pigmentation1.01833220
65MP0001963_abnormal_hearing_physiology1.00800548
66MP0004145_abnormal_muscle_electrophysio1.00682466
67MP0003121_genomic_imprinting0.99619108
68MP0001485_abnormal_pinna_reflex0.95554346
69MP0002752_abnormal_somatic_nervous0.94345674
70MP0004147_increased_porphyrin_level0.92528771
71MP0002069_abnormal_eating/drinking_beha0.87634774
72MP0000631_abnormal_neuroendocrine_gland0.85786000
73MP0000604_amyloidosis0.85349977
74MP0001177_atelectasis0.83857331
75MP0005409_darkened_coat_color0.83514280
76MP0000751_myopathy0.83017838
77MP0008874_decreased_physiological_sensi0.81245297
78MP0008872_abnormal_physiological_respon0.81062706
79MP0002876_abnormal_thyroid_physiology0.79422536
80MP0010386_abnormal_urinary_bladder0.78927515
81MP0005535_abnormal_body_temperature0.78883681
82MP0001299_abnormal_eye_distance/0.78035147
83MP0004085_abnormal_heartbeat0.77203149
84MP0002837_dystrophic_cardiac_calcinosis0.77120192
85MP0001944_abnormal_pancreas_morphology0.72141994
86MP0005379_endocrine/exocrine_gland_phen0.71164635
87MP0001986_abnormal_taste_sensitivity0.71075252
88MP0000579_abnormal_nail_morphology0.69324751
89MP0002090_abnormal_vision0.69054178
90MP0005253_abnormal_eye_physiology0.68555729
91MP0003183_abnormal_peptide_metabolism0.66947169
92MP0000026_abnormal_inner_ear0.65972578
93MP0005167_abnormal_blood-brain_barrier0.65557443
94MP0001664_abnormal_digestion0.63590242
95MP0000013_abnormal_adipose_tissue0.63544636
96MP0005187_abnormal_penis_morphology0.63379592
97MP0004215_abnormal_myocardial_fiber0.63237126
98MP0000569_abnormal_digit_pigmentation0.62635506
99MP0005623_abnormal_meninges_morphology0.62396408
100MP0001943_abnormal_respiration0.60907067
101MP0000639_abnormal_adrenal_gland0.60467675
102MP0005394_taste/olfaction_phenotype0.59944170
103MP0005499_abnormal_olfactory_system0.59944170
104MP0003172_abnormal_lysosome_physiology0.59264155
105MP0010234_abnormal_vibrissa_follicle0.56226501
106MP0003137_abnormal_impulse_conducting0.55553766
107MP0005248_abnormal_Harderian_gland0.55417527
108MP0002751_abnormal_autonomic_nervous0.54880151
109* MP0003861_abnormal_nervous_system0.54526387
110MP0006072_abnormal_retinal_apoptosis0.54086781
111MP0004043_abnormal_pH_regulation0.53653884
112* MP0010769_abnormal_survival0.53489289
113* MP0010770_preweaning_lethality0.53125857
114* MP0002082_postnatal_lethality0.53125857
115MP0004484_altered_response_of0.51161124
116* MP0010768_mortality/aging0.49810060

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.35551835
2Myokymia (HP:0002411)5.82332011
3Focal seizures (HP:0007359)5.39011280
4Atonic seizures (HP:0010819)5.37577238
5Epileptic encephalopathy (HP:0200134)4.93509840
6Visual hallucinations (HP:0002367)4.59649918
7Febrile seizures (HP:0002373)4.51569417
8Absence seizures (HP:0002121)4.25559639
9Progressive cerebellar ataxia (HP:0002073)4.21810463
10Dialeptic seizures (HP:0011146)3.95145491
11Hyperventilation (HP:0002883)3.81852148
12Generalized tonic-clonic seizures (HP:0002069)3.76101513
13Action tremor (HP:0002345)3.66508478
14Supranuclear gaze palsy (HP:0000605)3.62379407
15Broad-based gait (HP:0002136)3.49869683
16Pheochromocytoma (HP:0002666)3.41713701
17Gaze-evoked nystagmus (HP:0000640)3.36704037
18Abnormality of the corticospinal tract (HP:0002492)3.33842288
19Ankle clonus (HP:0011448)3.14203756
20Dysmetria (HP:0001310)3.11034766
21Neurofibrillary tangles (HP:0002185)3.06481244
22Dysdiadochokinesis (HP:0002075)3.04785374
23Spastic gait (HP:0002064)3.04569077
24Neuroendocrine neoplasm (HP:0100634)3.04217715
25Truncal ataxia (HP:0002078)2.98445811
26Impaired vibration sensation in the lower limbs (HP:0002166)2.98188556
27Degeneration of the lateral corticospinal tracts (HP:0002314)2.95263818
28Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.95263818
29Progressive inability to walk (HP:0002505)2.90577111
30Abnormal eating behavior (HP:0100738)2.89957482
31Urinary bladder sphincter dysfunction (HP:0002839)2.89236012
32Limb dystonia (HP:0002451)2.87110912
33Termporal pattern (HP:0011008)2.85744595
34Insidious onset (HP:0003587)2.85744595
35Scanning speech (HP:0002168)2.85146773
36Mutism (HP:0002300)2.78834126
37Cerebral inclusion bodies (HP:0100314)2.78324119
38Drooling (HP:0002307)2.75477637
39Excessive salivation (HP:0003781)2.75477637
40Poor eye contact (HP:0000817)2.68852417
41Anxiety (HP:0000739)2.68432221
42Depression (HP:0000716)2.67593592
43Intention tremor (HP:0002080)2.65421711
44Amblyopia (HP:0000646)2.61361586
45Epileptiform EEG discharges (HP:0011182)2.60437849
46Postural instability (HP:0002172)2.56869249
47Absent speech (HP:0001344)2.53982498
48Impaired social interactions (HP:0000735)2.52653167
49Abnormal social behavior (HP:0012433)2.52653167
50Urinary urgency (HP:0000012)2.49527961
51Polyphagia (HP:0002591)2.49495565
52Diplopia (HP:0000651)2.48022482
53Abnormality of binocular vision (HP:0011514)2.48022482
54EEG with generalized epileptiform discharges (HP:0011198)2.47714638
55Generalized myoclonic seizures (HP:0002123)2.39247490
56Sleep apnea (HP:0010535)2.38449567
57Hemiparesis (HP:0001269)2.37861718
58Blue irides (HP:0000635)2.34947872
59Lower limb muscle weakness (HP:0007340)2.34577618
60Hypsarrhythmia (HP:0002521)2.32950298
61Increased circulating renin level (HP:0000848)2.32311613
62Tetraplegia (HP:0002445)2.29613482
63Inability to walk (HP:0002540)2.29419270
64Sensory axonal neuropathy (HP:0003390)2.25089345
65Gait imbalance (HP:0002141)2.24439300
66Genetic anticipation (HP:0003743)2.18269300
67Bradykinesia (HP:0002067)2.17404477
68Cerebral hypomyelination (HP:0006808)2.13267398
69Obstructive sleep apnea (HP:0002870)2.13266745
70Torticollis (HP:0000473)2.12615101
71Hypoglycemic seizures (HP:0002173)2.12509817
72Muscular hypotonia of the trunk (HP:0008936)2.12101640
73Neoplasm of the peripheral nervous system (HP:0100007)2.11577247
74Postural tremor (HP:0002174)2.11281307
75Spastic tetraplegia (HP:0002510)2.11082035
76Papilledema (HP:0001085)2.09692390
77Hyperinsulinemic hypoglycemia (HP:0000825)2.09444157
78Peripheral hypomyelination (HP:0007182)2.09311452
79Impaired smooth pursuit (HP:0007772)2.08615574
80Retinal dysplasia (HP:0007973)2.08538335
81Abnormality of the lower motor neuron (HP:0002366)2.08289520
82Spastic tetraparesis (HP:0001285)2.08082585
83Stereotypic behavior (HP:0000733)2.02623623
84Paraplegia (HP:0010550)2.01416021
85Specific learning disability (HP:0001328)1.99907556
86Impaired vibratory sensation (HP:0002495)1.97228245
87Failure to thrive in infancy (HP:0001531)1.96342153
88Focal dystonia (HP:0004373)1.94966267
89Apathy (HP:0000741)1.93843383
90Amyotrophic lateral sclerosis (HP:0007354)1.93463871
91Abnormality of salivation (HP:0100755)1.93383761
92Status epilepticus (HP:0002133)1.93363021
93Gait ataxia (HP:0002066)1.90966849
94Abnormality of ocular smooth pursuit (HP:0000617)1.88503282
95Aqueductal stenosis (HP:0002410)1.88254239
96Agitation (HP:0000713)1.86368177
97Abnormal hair whorl (HP:0010721)1.85694871
98Clonus (HP:0002169)1.85618330
99Protruding tongue (HP:0010808)1.85199341
100Megalencephaly (HP:0001355)1.84673936
101Choreoathetosis (HP:0001266)1.83399513
102Hemiplegia (HP:0002301)1.83168027
103Diminished motivation (HP:0000745)1.82514766
104Delusions (HP:0000746)1.82216680
105Hypothermia (HP:0002045)1.81550134
106Psychosis (HP:0000709)1.81127676
107Syncope (HP:0001279)1.80935953
108Morphological abnormality of the pyramidal tract (HP:0002062)1.80318571
109Incomplete penetrance (HP:0003829)1.79462264
110Hypoglycemic coma (HP:0001325)1.79295108
111Genital tract atresia (HP:0001827)1.78523889
112Aplasia/Hypoplasia of the brainstem (HP:0007362)1.78281534
113Hypoplasia of the brainstem (HP:0002365)1.78281534
114Congenital primary aphakia (HP:0007707)1.77551894
115Ventricular fibrillation (HP:0001663)1.77199645
116Craniofacial dystonia (HP:0012179)1.76998010
117Abnormality of saccadic eye movements (HP:0000570)1.76744518
118Esotropia (HP:0000565)1.76229285
119Vaginal atresia (HP:0000148)1.76089147
120Neuronal loss in central nervous system (HP:0002529)1.75612023
121Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.74722781
122Rigidity (HP:0002063)1.73605163
123Rapidly progressive (HP:0003678)1.71409042
124Intestinal atresia (HP:0011100)1.69533375
125Annular pancreas (HP:0001734)1.69102200

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.28268863
2CASK3.75399571
3MARK13.35618388
4EPHA43.21151041
5MAP3K93.18297631
6MAP3K42.90767783
7TNIK2.65931210
8MINK12.64350799
9MAP2K72.57673495
10PRPF4B2.42748682
11MAP3K122.19174561
12NTRK21.99065392
13PAK61.96639848
14NTRK11.88597405
15FRK1.84081169
16CDK191.79004290
17OXSR11.78771832
18MAP2K41.76677093
19MAPK131.74304895
20DAPK21.67443941
21STK391.64495444
22PLK21.62068661
23PNCK1.56105556
24KSR21.50100445
25CDK51.45073715
26KSR11.40645980
27RIPK41.38014278
28CAMKK11.27235172
29GRK51.27103258
30UHMK11.22454250
31ARAF1.21446807
32PRKCG1.19374163
33PHKG11.16848893
34PHKG21.16848893
35CAMKK21.15379203
36CAMK2A1.11692529
37FES1.10674631
38BCR1.08938155
39CSNK1G21.05977737
40SGK4941.01444608
41SGK2231.01444608
42DAPK11.00128688
43TYRO30.95757423
44CAMK2B0.93691797
45CDK180.93537857
46MAP3K20.93106253
47CDK140.92903552
48NEK60.90362370
49PRKD30.89443223
50CDK150.88743272
51WNK10.86841111
52MAP3K130.84760408
53PAK30.83240195
54SIK20.82442104
55CAMK1G0.78822967
56PKN10.77351078
57CDK11A0.76027409
58SGK20.75742497
59BMPR20.75023385
60LATS20.73742378
61CSNK1G30.72933880
62STK110.70983109
63RET0.69601984
64AKT30.69544591
65STK380.68847601
66MAP4K20.68507293
67CAMK2D0.67554490
68PRKCH0.67418934
69WNK40.66523907
70GRK70.64753779
71DYRK1A0.63904120
72ROCK20.63674322
73FGR0.63106218
74PRKCE0.62928925
75SGK10.61823970
76SIK30.61716743
77LMTK20.61316651
78PTK2B0.60527058
79ALK0.60351269
80RIPK10.59878892
81CAMK10.58449531
82TESK10.57295562
83CAMK2G0.56430373
84MAPK120.55602752
85TNK20.55569949
86DYRK20.54823668
87MAP2K60.53786425
88MARK20.52173071
89PDPK10.51357930
90CAMK40.51201939
91CSNK1D0.50065867
92SGK30.48909592
93RAF10.48777300
94PDK10.48744676
95WNK30.47033762
96FYN0.46243940
97TAOK10.45635100
98PRKG10.44301992
99PRKCZ0.43915967
100FGFR20.43678288
101CSNK1A1L0.42536085
102RPS6KA30.42077212
103PINK10.41746023
104MUSK0.41667575
105LIMK10.40898384
106CSNK1G10.39864432
107MAPK100.39584535
108ERBB30.39192330
109PRKACA0.39059807
110MAP3K10.38488357
111MAPKAPK50.38166948
112CCNB10.38151411
113CSNK1A10.37896712
114NME10.36827010
115CSNK1E0.36502328
116EPHA30.36043167
117ADRBK20.35991261
118PRKCA0.35551028
119PRKCB0.33575340

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.89905715
2Synaptic vesicle cycle_Homo sapiens_hsa047213.44374708
3Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.76258050
4GABAergic synapse_Homo sapiens_hsa047272.73746163
5Glutamatergic synapse_Homo sapiens_hsa047242.55819919
6Circadian entrainment_Homo sapiens_hsa047132.55342188
7Morphine addiction_Homo sapiens_hsa050322.50627356
8Olfactory transduction_Homo sapiens_hsa047402.49401795
9Long-term potentiation_Homo sapiens_hsa047202.46527713
10Amphetamine addiction_Homo sapiens_hsa050312.32543329
11Dopaminergic synapse_Homo sapiens_hsa047282.17360751
12Salivary secretion_Homo sapiens_hsa049702.07189487
13Collecting duct acid secretion_Homo sapiens_hsa049662.03655840
14Serotonergic synapse_Homo sapiens_hsa047262.00397681
15Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.99047264
16Taste transduction_Homo sapiens_hsa047421.96140446
17Cholinergic synapse_Homo sapiens_hsa047251.86185318
18Insulin secretion_Homo sapiens_hsa049111.82030896
19Long-term depression_Homo sapiens_hsa047301.81255220
20Gastric acid secretion_Homo sapiens_hsa049711.70669782
21Cocaine addiction_Homo sapiens_hsa050301.62360508
22Renin secretion_Homo sapiens_hsa049241.61931789
23Aldosterone synthesis and secretion_Homo sapiens_hsa049251.54389688
24Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.51756614
25Calcium signaling pathway_Homo sapiens_hsa040201.50664471
26Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.48980148
27Oxytocin signaling pathway_Homo sapiens_hsa049211.47919084
28Axon guidance_Homo sapiens_hsa043601.44653397
29Vibrio cholerae infection_Homo sapiens_hsa051101.37175737
30Gap junction_Homo sapiens_hsa045401.33636474
31GnRH signaling pathway_Homo sapiens_hsa049121.30094443
32Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.29364584
33Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.28650509
34Maturity onset diabetes of the young_Homo sapiens_hsa049501.25705500
35Vitamin B6 metabolism_Homo sapiens_hsa007501.22249852
36cAMP signaling pathway_Homo sapiens_hsa040241.15844307
37Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.14992208
38Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.14612652
39Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.06786813
40Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.06774781
41ErbB signaling pathway_Homo sapiens_hsa040121.06656132
42Phosphatidylinositol signaling system_Homo sapiens_hsa040701.04878237
43Cardiac muscle contraction_Homo sapiens_hsa042601.04202245
44Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.03668900
45Estrogen signaling pathway_Homo sapiens_hsa049151.03599926
46Type II diabetes mellitus_Homo sapiens_hsa049301.01384824
47Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.99874442
48Glioma_Homo sapiens_hsa052140.94927629
49Phototransduction_Homo sapiens_hsa047440.92733577
50Vascular smooth muscle contraction_Homo sapiens_hsa042700.90274783
51Melanogenesis_Homo sapiens_hsa049160.88006226
52Oxidative phosphorylation_Homo sapiens_hsa001900.87065093
53cGMP-PKG signaling pathway_Homo sapiens_hsa040220.86063063
54Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.85497782
55Phospholipase D signaling pathway_Homo sapiens_hsa040720.83498247
56* Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.83230579
57Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.83175345
58Dorso-ventral axis formation_Homo sapiens_hsa043200.82891857
59Pancreatic secretion_Homo sapiens_hsa049720.80278754
60Alzheimers disease_Homo sapiens_hsa050100.78682963
61Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.73016690
62Oocyte meiosis_Homo sapiens_hsa041140.72314539
63Choline metabolism in cancer_Homo sapiens_hsa052310.70113961
64MAPK signaling pathway_Homo sapiens_hsa040100.69615827
65Thyroid hormone synthesis_Homo sapiens_hsa049180.68411311
66Ras signaling pathway_Homo sapiens_hsa040140.65174319
67Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.64712887
68Dilated cardiomyopathy_Homo sapiens_hsa054140.59789406
69Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.57342844
70Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.56591769
71Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.56127398
72Sphingolipid signaling pathway_Homo sapiens_hsa040710.56041617
73Rheumatoid arthritis_Homo sapiens_hsa053230.55404366
74Parkinsons disease_Homo sapiens_hsa050120.54757573
75Alcoholism_Homo sapiens_hsa050340.51637798
76Renal cell carcinoma_Homo sapiens_hsa052110.51230368
77Endocytosis_Homo sapiens_hsa041440.50521444
78Neurotrophin signaling pathway_Homo sapiens_hsa047220.48479989
79Histidine metabolism_Homo sapiens_hsa003400.47909988
80Inositol phosphate metabolism_Homo sapiens_hsa005620.46671765
81SNARE interactions in vesicular transport_Homo sapiens_hsa041300.46207601
82Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.45572074
83Type I diabetes mellitus_Homo sapiens_hsa049400.44721402
84Mineral absorption_Homo sapiens_hsa049780.44472477
85Butanoate metabolism_Homo sapiens_hsa006500.43987906
86Ovarian steroidogenesis_Homo sapiens_hsa049130.43663929
87beta-Alanine metabolism_Homo sapiens_hsa004100.43055228
88Rap1 signaling pathway_Homo sapiens_hsa040150.43047728
89Ether lipid metabolism_Homo sapiens_hsa005650.42517516
90Carbohydrate digestion and absorption_Homo sapiens_hsa049730.40760941
91Fatty acid biosynthesis_Homo sapiens_hsa000610.38913890
92VEGF signaling pathway_Homo sapiens_hsa043700.38802599
93Prion diseases_Homo sapiens_hsa050200.37997715
94Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.36409820
95Glucagon signaling pathway_Homo sapiens_hsa049220.35699870
96Wnt signaling pathway_Homo sapiens_hsa043100.35478703
97Steroid biosynthesis_Homo sapiens_hsa001000.34930142
98Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.34530313
99Phagosome_Homo sapiens_hsa041450.34488520
100Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.34465501
101Nitrogen metabolism_Homo sapiens_hsa009100.34324910
102Arginine biosynthesis_Homo sapiens_hsa002200.32984493
103mTOR signaling pathway_Homo sapiens_hsa041500.31316357
104Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.31310270
105Huntingtons disease_Homo sapiens_hsa050160.30421306
106Endometrial cancer_Homo sapiens_hsa052130.30356944
107Arginine and proline metabolism_Homo sapiens_hsa003300.29891569
108Tight junction_Homo sapiens_hsa045300.29849075
109Bile secretion_Homo sapiens_hsa049760.28228362
110Folate biosynthesis_Homo sapiens_hsa007900.28154331
111Chemokine signaling pathway_Homo sapiens_hsa040620.27650500
112Circadian rhythm_Homo sapiens_hsa047100.27605658
113Regulation of autophagy_Homo sapiens_hsa041400.27585035
114Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.27538731
115ABC transporters_Homo sapiens_hsa020100.27483815
116Thyroid hormone signaling pathway_Homo sapiens_hsa049190.25408484
117AMPK signaling pathway_Homo sapiens_hsa041520.25297616
118Insulin signaling pathway_Homo sapiens_hsa049100.25174585
119Sphingolipid metabolism_Homo sapiens_hsa006000.23641937
120Longevity regulating pathway - mammal_Homo sapiens_hsa042110.23518562

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