CNTNAP4

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 neurexin protein family. Members of this family function in the vertebrate nervous system as cell adhesion molecules and receptors. This protein contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, and thrombospondin N-terminal-like domains. This protein may also play a role in proper neurotransmission in the dopaminergic and GABAergic systems and mutations in this gene may be associated with certain psychiatric illnesses. A polymorphism in an intron of this gene may be associated with longevity. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1central nervous system myelination (GO:0022010)8.12190425
2axon ensheathment in central nervous system (GO:0032291)8.12190425
3regulation of short-term neuronal synaptic plasticity (GO:0048172)5.97634589
4vocalization behavior (GO:0071625)5.74920418
5neuron cell-cell adhesion (GO:0007158)5.46390031
6synaptic vesicle exocytosis (GO:0016079)5.31558736
7regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.31340628
8locomotory exploration behavior (GO:0035641)5.15965959
9L-amino acid import (GO:0043092)5.09254371
10positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.98657174
11regulation of glutamate receptor signaling pathway (GO:1900449)4.94940574
12neuronal action potential propagation (GO:0019227)4.94869338
13regulation of synaptic vesicle exocytosis (GO:2000300)4.88700334
14glutamate secretion (GO:0014047)4.87981061
15ionotropic glutamate receptor signaling pathway (GO:0035235)4.86716187
16gamma-aminobutyric acid transport (GO:0015812)4.85384820
17neurotransmitter secretion (GO:0007269)4.76253059
18positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.74835835
19sodium ion export (GO:0071436)4.74513166
20synaptic vesicle maturation (GO:0016188)4.74398569
21proline transport (GO:0015824)4.58298279
22synaptic transmission, glutamatergic (GO:0035249)4.48038591
23amino acid import (GO:0043090)4.47611333
24regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.45013467
25regulation of synaptic vesicle transport (GO:1902803)4.44208936
26protein localization to synapse (GO:0035418)4.43473647
27glutamate receptor signaling pathway (GO:0007215)4.39132317
28negative regulation of synaptic transmission, GABAergic (GO:0032229)4.37279672
29long-chain fatty acid biosynthetic process (GO:0042759)4.35056322
30neuron-neuron synaptic transmission (GO:0007270)4.33448050
31gamma-aminobutyric acid signaling pathway (GO:0007214)4.27187555
32exploration behavior (GO:0035640)4.23558540
33synaptic vesicle docking involved in exocytosis (GO:0016081)4.15802823
34neuron recognition (GO:0008038)4.05207233
35neurotransmitter transport (GO:0006836)3.98254216
36neurotransmitter-gated ion channel clustering (GO:0072578)3.97863914
37synaptic vesicle endocytosis (GO:0048488)3.97235799
38layer formation in cerebral cortex (GO:0021819)3.91083452
39regulation of long-term neuronal synaptic plasticity (GO:0048169)3.86947757
40regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.85687006
41membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.82754785
42potassium ion homeostasis (GO:0055075)3.77233498
43regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.77033840
44cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.76418399
45postsynaptic membrane organization (GO:0001941)3.73532538
46potassium ion import (GO:0010107)3.71765578
47regulation of neuronal synaptic plasticity (GO:0048168)3.69532348
48cerebellar Purkinje cell differentiation (GO:0021702)3.68590939
49positive regulation of synapse maturation (GO:0090129)3.67919422
50myelination (GO:0042552)3.67837322
51regulation of neurotransmitter levels (GO:0001505)3.67591420
52establishment of mitochondrion localization (GO:0051654)3.66552283
53long-term memory (GO:0007616)3.64366711
54neuromuscular process controlling posture (GO:0050884)3.63596907
55astrocyte development (GO:0014002)3.62748304
56regulation of synapse structural plasticity (GO:0051823)3.59444125
57neurotransmitter uptake (GO:0001504)3.59135066
58positive regulation of dendritic spine development (GO:0060999)3.58876921
59regulation of synaptic transmission, glutamatergic (GO:0051966)3.58816060
60acidic amino acid transport (GO:0015800)3.58732361
61cerebellar granule cell differentiation (GO:0021707)3.58449468
62transmission of nerve impulse (GO:0019226)3.58408686
63positive regulation of synaptic transmission, GABAergic (GO:0032230)3.58300631
64presynaptic membrane assembly (GO:0097105)3.58038019
65axon ensheathment (GO:0008366)3.57106817
66ensheathment of neurons (GO:0007272)3.57106817
67negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.55396076
68G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.54523574
69regulation of excitatory postsynaptic membrane potential (GO:0060079)3.53695192
70positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.50573900
71regulation of postsynaptic membrane potential (GO:0060078)3.41482778
72positive regulation of membrane potential (GO:0045838)3.41244865
73response to histamine (GO:0034776)3.41078960
74membrane depolarization during action potential (GO:0086010)3.39200075
75axonal fasciculation (GO:0007413)3.39167840
76presynaptic membrane organization (GO:0097090)3.37765096
77activation of protein kinase A activity (GO:0034199)3.37199871
78cellular potassium ion homeostasis (GO:0030007)3.36858959
79regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.36618355
80positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.36563409
81regulation of neurotransmitter secretion (GO:0046928)3.36126900
82synapse assembly (GO:0007416)3.33653924
83neuromuscular process controlling balance (GO:0050885)3.32852039
84myelin maintenance (GO:0043217)3.28652789
85* regulation of synaptic transmission, GABAergic (GO:0032228)3.27710915
86cell communication by electrical coupling (GO:0010644)3.25308483
87dendritic spine morphogenesis (GO:0060997)3.25299090
88cellular sodium ion homeostasis (GO:0006883)3.24940952
89regulation of voltage-gated calcium channel activity (GO:1901385)3.24087383
90dendrite morphogenesis (GO:0048813)3.22276322
91membrane depolarization (GO:0051899)3.21810559
92long-term synaptic potentiation (GO:0060291)3.21006330
93L-glutamate transport (GO:0015813)3.20887339
94positive regulation of synapse assembly (GO:0051965)3.19724363
95substantia nigra development (GO:0021762)3.17978230
96regulation of synapse maturation (GO:0090128)3.17564646
97membrane hyperpolarization (GO:0060081)3.16600883
98response to pheromone (GO:0019236)3.15635532
99synaptic transmission (GO:0007268)3.14180431
100regulation of neurotransmitter transport (GO:0051588)3.12537932
101response to auditory stimulus (GO:0010996)3.12044784
102regulation of ARF protein signal transduction (GO:0032012)3.11567165
103regulation of glutamate secretion (GO:0014048)3.09889151
104membrane assembly (GO:0071709)3.09126574
105glycine transport (GO:0015816)3.07719089
106social behavior (GO:0035176)3.07513556
107intraspecies interaction between organisms (GO:0051703)3.07513556
108cell migration in hindbrain (GO:0021535)3.06525108
109regulation of synaptic plasticity (GO:0048167)3.06174891
110adult walking behavior (GO:0007628)3.04672453
111learning (GO:0007612)3.04232952
112regulation of dendritic spine development (GO:0060998)3.04174714
113regulation of dendritic spine morphogenesis (GO:0061001)3.03839475
114auditory behavior (GO:0031223)3.02705408
115startle response (GO:0001964)3.01523332
116prepulse inhibition (GO:0060134)3.01239097
117behavioral defense response (GO:0002209)3.00730907
118behavioral fear response (GO:0001662)3.00730907
119positive regulation of dendritic spine morphogenesis (GO:0061003)3.00624099
120regulation of vesicle fusion (GO:0031338)2.99914963
121negative regulation of inclusion body assembly (GO:0090084)2.99698978
122mechanosensory behavior (GO:0007638)2.98436886
123neuronal ion channel clustering (GO:0045161)2.98074770
124establishment of synaptic vesicle localization (GO:0097480)2.97446303
125synaptic vesicle transport (GO:0048489)2.97446303
126nerve growth factor signaling pathway (GO:0038180)2.96511765
127* regulation of synaptic transmission (GO:0050804)2.94158637
128positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.91498493
129positive regulation of synaptic transmission (GO:0050806)2.90934613
130synapse organization (GO:0050808)2.90424286
131regulation of respiratory system process (GO:0044065)2.89899527

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.89336895
2GBX2_23144817_ChIP-Seq_PC3_Human4.12186057
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.13928396
4JARID2_20064375_ChIP-Seq_MESCs_Mouse3.05619417
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.03811953
6GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.73533921
7* REST_21632747_ChIP-Seq_MESCs_Mouse2.71143223
8SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.59148167
9SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.58701191
10RNF2_18974828_ChIP-Seq_MESCs_Mouse2.57441801
11EZH2_18974828_ChIP-Seq_MESCs_Mouse2.57441801
12EZH2_27304074_Chip-Seq_ESCs_Mouse2.56946217
13JARID2_20075857_ChIP-Seq_MESCs_Mouse2.55836303
14SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.48207936
15MTF2_20144788_ChIP-Seq_MESCs_Mouse2.42632106
16SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.40374397
17TAF15_26573619_Chip-Seq_HEK293_Human2.39119560
18EED_16625203_ChIP-ChIP_MESCs_Mouse2.34893187
19CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.30066827
20DROSHA_22980978_ChIP-Seq_HELA_Human2.21067378
21* REST_18959480_ChIP-ChIP_MESCs_Mouse2.16785603
22NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.15216458
23EZH2_27294783_Chip-Seq_ESCs_Mouse2.14964656
24CTBP2_25329375_ChIP-Seq_LNCAP_Human2.14821528
25SUZ12_27294783_Chip-Seq_ESCs_Mouse2.11071362
26RNF2_27304074_Chip-Seq_ESCs_Mouse2.04145111
27AR_21572438_ChIP-Seq_LNCaP_Human2.02051748
28* ZFP57_27257070_Chip-Seq_ESCs_Mouse1.94052700
29CTBP1_25329375_ChIP-Seq_LNCAP_Human1.93757226
30ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.93094493
31IKZF1_21737484_ChIP-ChIP_HCT116_Human1.90030102
32RARB_27405468_Chip-Seq_BRAIN_Mouse1.88042983
33SMAD4_21799915_ChIP-Seq_A2780_Human1.81974312
34* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.77287267
35IGF1R_20145208_ChIP-Seq_DFB_Human1.72766483
36PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.69116084
37BMI1_23680149_ChIP-Seq_NPCS_Mouse1.65847668
38ZNF274_21170338_ChIP-Seq_K562_Hela1.65595189
39* P300_19829295_ChIP-Seq_ESCs_Human1.63226340
40CBX2_27304074_Chip-Seq_ESCs_Mouse1.57833837
41GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.56338356
42ERG_21242973_ChIP-ChIP_JURKAT_Human1.48823161
43POU3F2_20337985_ChIP-ChIP_501MEL_Human1.45542270
44MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.44636584
45PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.42774162
46SOX2_21211035_ChIP-Seq_LN229_Gbm1.42465305
47* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.40111541
48* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.39886245
49RNF2_27304074_Chip-Seq_NSC_Mouse1.39352176
50SMAD3_21741376_ChIP-Seq_EPCs_Human1.37419443
51* AR_25329375_ChIP-Seq_VCAP_Human1.37315139
52RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.35309990
53PIAS1_25552417_ChIP-Seq_VCAP_Human1.34853797
54EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.33901289
55* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.33769320
56TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.30880187
57* STAT3_23295773_ChIP-Seq_U87_Human1.30755648
58SMAD_19615063_ChIP-ChIP_OVARY_Human1.28157564
59CTNNB1_20460455_ChIP-Seq_HCT116_Human1.25354536
60* TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.21885390
61NR3C1_23031785_ChIP-Seq_PC12_Mouse1.21811125
62* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.21774816
63GATA1_26923725_Chip-Seq_HPCs_Mouse1.20807987
64RING1B_27294783_Chip-Seq_ESCs_Mouse1.20393070
65CDX2_19796622_ChIP-Seq_MESCs_Mouse1.19734990
66TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.18752781
67TCF4_23295773_ChIP-Seq_U87_Human1.18394758
68* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.16751755
69AR_19668381_ChIP-Seq_PC3_Human1.16319013
70* ARNT_22903824_ChIP-Seq_MCF-7_Human1.15671149
71SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.14365546
72PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.14357278
73MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.13865769
74* ER_23166858_ChIP-Seq_MCF-7_Human1.13360532
75* RUNX2_22187159_ChIP-Seq_PCA_Human1.13217871
76RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.13104428
77* CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.11049250
78* FUS_26573619_Chip-Seq_HEK293_Human1.10018042
79* LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.09153103
80* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.08476441
81THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.07424769
82TP53_16413492_ChIP-PET_HCT116_Human1.06897970
83ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.05763894
84TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.04920391
85* AHR_22903824_ChIP-Seq_MCF-7_Human1.04805959
86* JUN_21703547_ChIP-Seq_K562_Human1.04757252
87* YAP1_20516196_ChIP-Seq_MESCs_Mouse1.04331563
88NANOG_18555785_Chip-Seq_ESCs_Mouse1.03477542
89* MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.03273786
90PRDM14_20953172_ChIP-Seq_ESCs_Human0.99423468
91SOX9_26525672_Chip-Seq_HEART_Mouse0.99048431
92* TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.98869663
93RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.98683527
94ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.98591277
95P53_22127205_ChIP-Seq_FIBROBLAST_Human0.97308332
96OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.96872314
97* POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.96847716
98* TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.96847716
99ZNF217_24962896_ChIP-Seq_MCF-7_Human0.95297055
100NR3C1_21868756_ChIP-Seq_MCF10A_Human0.95209917
101* SMAD3_21741376_ChIP-Seq_ESCs_Human0.94856718
102SMAD3_21741376_ChIP-Seq_HESCs_Human0.94808219
103STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.94033445
104KDM2B_26808549_Chip-Seq_K562_Human0.93948203
105RING1B_27294783_Chip-Seq_NPCs_Mouse0.93902385
106VDR_22108803_ChIP-Seq_LS180_Human0.93892487
107TP53_18474530_ChIP-ChIP_U2OS_Human0.93312656
108KDM2B_26808549_Chip-Seq_REH_Human0.91302417
109DNAJC2_21179169_ChIP-ChIP_NT2_Human0.91084108
110E2F1_18555785_Chip-Seq_ESCs_Mouse0.91070558
111TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.89964378
112P53_22387025_ChIP-Seq_ESCs_Mouse0.89822246
113BCAT_22108803_ChIP-Seq_LS180_Human0.88054509
114* SMAD4_21741376_ChIP-Seq_HESCs_Human0.87564236
115CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.87272997
116WT1_25993318_ChIP-Seq_PODOCYTE_Human0.86946977
117EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.86411793
118CMYC_18555785_Chip-Seq_ESCs_Mouse0.86136594

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.39372360
2MP0003880_abnormal_central_pattern4.69482479
3MP0003635_abnormal_synaptic_transmissio3.98072676
4MP0009046_muscle_twitch3.84254234
5MP0009745_abnormal_behavioral_response3.36274092
6MP0002064_seizures3.28742893
7MP0001968_abnormal_touch/_nociception3.28116208
8MP0004270_analgesia3.18561701
9MP0002063_abnormal_learning/memory/cond3.11377998
10MP0005423_abnormal_somatic_nervous3.02231356
11MP0002572_abnormal_emotion/affect_behav2.89598570
12MP0002736_abnormal_nociception_after2.81521771
13MP0002735_abnormal_chemical_nociception2.80906344
14MP0002272_abnormal_nervous_system2.73517514
15MP0002734_abnormal_mechanical_nocicepti2.69103138
16MP0001486_abnormal_startle_reflex2.47759159
17MP0001501_abnormal_sleep_pattern2.47684237
18MP0001440_abnormal_grooming_behavior2.38598998
19MP0006276_abnormal_autonomic_nervous2.35711623
20MP0002067_abnormal_sensory_capabilities2.29528676
21MP0002733_abnormal_thermal_nociception2.15210808
22MP0002184_abnormal_innervation2.10750639
23MP0003122_maternal_imprinting2.02930741
24MP0001970_abnormal_pain_threshold2.02708387
25MP0002822_catalepsy2.01087910
26MP0008569_lethality_at_weaning1.95329599
27MP0005386_behavior/neurological_phenoty1.95144406
28MP0004924_abnormal_behavior1.95144406
29MP0004142_abnormal_muscle_tone1.89268961
30MP0000778_abnormal_nervous_system1.86314478
31MP0002557_abnormal_social/conspecific_i1.84927759
32MP0003787_abnormal_imprinting1.78679712
33MP0005645_abnormal_hypothalamus_physiol1.73032224
34MP0004811_abnormal_neuron_physiology1.64700875
35MP0001984_abnormal_olfaction1.62766708
36MP0001529_abnormal_vocalization1.62517400
37MP0005646_abnormal_pituitary_gland1.62348942
38MP0001188_hyperpigmentation1.62174923
39MP0000955_abnormal_spinal_cord1.48015909
40MP0002066_abnormal_motor_capabilities/c1.47404237
41MP0001905_abnormal_dopamine_level1.44230335
42MP0002909_abnormal_adrenal_gland1.40268459
43MP0003879_abnormal_hair_cell1.39341422
44MP0002882_abnormal_neuron_morphology1.38934122
45MP0004858_abnormal_nervous_system1.37792957
46MP0003329_amyloid_beta_deposits1.34471317
47MP0000569_abnormal_digit_pigmentation1.30749772
48MP0009780_abnormal_chondrocyte_physiolo1.30219114
49MP0002837_dystrophic_cardiac_calcinosis1.24266645
50MP0004885_abnormal_endolymph1.23908361
51MP0001502_abnormal_circadian_rhythm1.16243800
52MP0004742_abnormal_vestibular_system1.11980699
53MP0002152_abnormal_brain_morphology1.09459316
54MP0000751_myopathy1.07135007
55MP0008872_abnormal_physiological_respon1.05667799
56MP0003633_abnormal_nervous_system1.04193023
57MP0001485_abnormal_pinna_reflex0.99163429
58MP0000604_amyloidosis0.98714308
59MP0002876_abnormal_thyroid_physiology0.97161476
60MP0003631_nervous_system_phenotype0.95853950
61MP0010386_abnormal_urinary_bladder0.95205623
62MP0002069_abnormal_eating/drinking_beha0.94498881
63MP0005394_taste/olfaction_phenotype0.94430840
64MP0005499_abnormal_olfactory_system0.94430840
65MP0002229_neurodegeneration0.93938076
66MP0000631_abnormal_neuroendocrine_gland0.91849823
67MP0001963_abnormal_hearing_physiology0.91491829
68MP0000566_synostosis0.90856125
69MP0003121_genomic_imprinting0.90030561
70MP0001177_atelectasis0.87991530
71MP0002638_abnormal_pupillary_reflex0.87218591
72MP0005551_abnormal_eye_electrophysiolog0.87129922
73MP0001986_abnormal_taste_sensitivity0.81668983
74MP0004145_abnormal_muscle_electrophysio0.80895859
75MP0002752_abnormal_somatic_nervous0.80337154
76MP0003632_abnormal_nervous_system0.78991156
77MP0005535_abnormal_body_temperature0.78180072
78MP0004215_abnormal_myocardial_fiber0.77677373
79MP0004484_altered_response_of0.77307208
80MP0004147_increased_porphyrin_level0.76891677
81MP0003634_abnormal_glial_cell0.76218814
82MP0005167_abnormal_blood-brain_barrier0.75870909
83MP0001664_abnormal_digestion0.74951331
84MP0001346_abnormal_lacrimal_gland0.74763234
85MP0008874_decreased_physiological_sensi0.73121295
86MP0004085_abnormal_heartbeat0.72886161
87MP0003283_abnormal_digestive_organ0.72220515
88MP0003646_muscle_fatigue0.69855512
89MP0003123_paternal_imprinting0.69476899
90MP0003137_abnormal_impulse_conducting0.68344271
91MP0000013_abnormal_adipose_tissue0.68138839
92MP0008877_abnormal_DNA_methylation0.64101916
93MP0000026_abnormal_inner_ear0.62581314
94MP0008961_abnormal_basal_metabolism0.60867527
95MP0001943_abnormal_respiration0.59711537
96MP0003690_abnormal_glial_cell0.58893672
97MP0000747_muscle_weakness0.58883315
98MP0002082_postnatal_lethality0.58871712
99MP0010770_preweaning_lethality0.58871712
100MP0001299_abnormal_eye_distance/0.58273289
101MP0000579_abnormal_nail_morphology0.58154853
102MP0010769_abnormal_survival0.57486579
103MP0006035_abnormal_mitochondrial_morpho0.55866930
104MP0000639_abnormal_adrenal_gland0.55290210
105MP0003861_abnormal_nervous_system0.54519673
106MP0010768_mortality/aging0.53834811
107MP0000920_abnormal_myelination0.52628457
108MP0002102_abnormal_ear_morphology0.51557390
109MP0005623_abnormal_meninges_morphology0.50969293
110MP0003956_abnormal_body_size0.47692579
111MP0003075_altered_response_to0.45484057
112MP0003045_fibrosis0.44954493
113MP0005253_abnormal_eye_physiology0.44909586
114MP0002090_abnormal_vision0.40475715

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)8.14516480
2Atonic seizures (HP:0010819)5.77638465
3Degeneration of the lateral corticospinal tracts (HP:0002314)5.77440622
4Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)5.77440622
5Focal seizures (HP:0007359)5.67619497
6Myokymia (HP:0002411)5.59096519
7Febrile seizures (HP:0002373)5.48407784
8Visual hallucinations (HP:0002367)5.20755259
9Epileptic encephalopathy (HP:0200134)5.01053500
10Progressive cerebellar ataxia (HP:0002073)4.80796419
11Absence seizures (HP:0002121)4.77769228
12Neurofibrillary tangles (HP:0002185)4.48335252
13Generalized tonic-clonic seizures (HP:0002069)4.17239716
14Dialeptic seizures (HP:0011146)4.16720895
15Broad-based gait (HP:0002136)3.66763190
16Limb dystonia (HP:0002451)3.58477093
17Hyperventilation (HP:0002883)3.49334017
18Action tremor (HP:0002345)3.48514430
19Progressive inability to walk (HP:0002505)3.38705699
20Gaze-evoked nystagmus (HP:0000640)3.29576062
21Poor eye contact (HP:0000817)3.26123498
22Supranuclear gaze palsy (HP:0000605)3.25985190
23Abnormal eating behavior (HP:0100738)3.24429195
24Pheochromocytoma (HP:0002666)3.19605079
25Polyphagia (HP:0002591)3.16695319
26Diplopia (HP:0000651)3.16545857
27Abnormality of binocular vision (HP:0011514)3.16545857
28Dysdiadochokinesis (HP:0002075)3.11805238
29Impaired social interactions (HP:0000735)3.11552051
30Abnormal social behavior (HP:0012433)3.11552051
31Peripheral hypomyelination (HP:0007182)3.06462323
32Truncal ataxia (HP:0002078)3.03344212
33Cerebral hypomyelination (HP:0006808)2.95712722
34Failure to thrive in infancy (HP:0001531)2.89739333
35Neuroendocrine neoplasm (HP:0100634)2.85510656
36Ankle clonus (HP:0011448)2.84990921
37Drooling (HP:0002307)2.84334783
38Excessive salivation (HP:0003781)2.84334783
39Hemiparesis (HP:0001269)2.82750766
40Mutism (HP:0002300)2.81650327
41Abnormal hair whorl (HP:0010721)2.77226110
42Anxiety (HP:0000739)2.75697497
43Depression (HP:0000716)2.74999713
44Alacrima (HP:0000522)2.71247270
45Fetal akinesia sequence (HP:0001989)2.71094975
46Postural instability (HP:0002172)2.70129950
47Impaired vibration sensation in the lower limbs (HP:0002166)2.68925216
48Scanning speech (HP:0002168)2.63427498
49Status epilepticus (HP:0002133)2.61154254
50Hemiplegia (HP:0002301)2.57972886
51Dysmetria (HP:0001310)2.54430238
52Bradykinesia (HP:0002067)2.46468956
53Genetic anticipation (HP:0003743)2.46119495
54Spastic tetraparesis (HP:0001285)2.44479175
55Epileptiform EEG discharges (HP:0011182)2.42779863
56Inability to walk (HP:0002540)2.41875867
57Impaired smooth pursuit (HP:0007772)2.41693658
58Paraplegia (HP:0010550)2.40865086
59Spastic paraplegia (HP:0001258)2.40772538
60Urinary bladder sphincter dysfunction (HP:0002839)2.39172010
61EEG with generalized epileptiform discharges (HP:0011198)2.38744325
62Amblyopia (HP:0000646)2.36551934
63Papilledema (HP:0001085)2.36085506
64Clonus (HP:0002169)2.34838950
65Choreoathetosis (HP:0001266)2.34600814
66Decreased number of large peripheral myelinated nerve fibers (HP:0003387)2.34144873
67Abnormality of the corticospinal tract (HP:0002492)2.32937855
68Gait imbalance (HP:0002141)2.32143403
69Hypoventilation (HP:0002791)2.31035961
70Megalencephaly (HP:0001355)2.30515060
71Absent speech (HP:0001344)2.29281806
72Decreased number of peripheral myelinated nerve fibers (HP:0003380)2.26661967
73Apathy (HP:0000741)2.26110146
74Hypsarrhythmia (HP:0002521)2.25674007
75Decreased motor nerve conduction velocity (HP:0003431)2.25527686
76Tetraplegia (HP:0002445)2.24895695
77Narrow nasal bridge (HP:0000446)2.24589682
78Increased circulating renin level (HP:0000848)2.23455045
79Agitation (HP:0000713)2.23202444
80Abnormality of ocular smooth pursuit (HP:0000617)2.21492006
81Spastic gait (HP:0002064)2.21429469
82Blue irides (HP:0000635)2.21111310
83Split foot (HP:0001839)2.20058876
84Poor suck (HP:0002033)2.19418271
85Urinary urgency (HP:0000012)2.17174275
86Decreased lacrimation (HP:0000633)2.14988243
87Obstructive sleep apnea (HP:0002870)2.14747461
88Amyotrophic lateral sclerosis (HP:0007354)2.14045680
89Annular pancreas (HP:0001734)2.11964681
90Generalized myoclonic seizures (HP:0002123)2.11471580
91CNS hypomyelination (HP:0003429)2.09755760
92Abnormality of the labia minora (HP:0012880)2.08950997
93Abnormality of the lower motor neuron (HP:0002366)2.08867814
94Psychosis (HP:0000709)2.08674998
95Esotropia (HP:0000565)2.06809547
96Insomnia (HP:0100785)2.06580290
97Akinesia (HP:0002304)2.05878422
98Aplasia involving bones of the extremities (HP:0009825)2.05688441
99Aplasia involving bones of the upper limbs (HP:0009823)2.05688441
100Aplasia of the phalanges of the hand (HP:0009802)2.05688441
101Diminished motivation (HP:0000745)2.04671806
102Specific learning disability (HP:0001328)2.03938132
103Rapidly progressive (HP:0003678)2.03503032
104Bundle branch block (HP:0011710)2.02968073
105Gait ataxia (HP:0002066)2.01157640
106Neuronal loss in central nervous system (HP:0002529)2.00854932
107Protruding tongue (HP:0010808)1.99779124
108Dysmetric saccades (HP:0000641)1.99670583
109Delusions (HP:0000746)1.97512937
110Torticollis (HP:0000473)1.95866423
111Insidious onset (HP:0003587)1.95113126
112Termporal pattern (HP:0011008)1.95113126
113Abnormality of salivation (HP:0100755)1.92860126
114Intention tremor (HP:0002080)1.92789614
115Turricephaly (HP:0000262)1.91044929
116Stereotypic behavior (HP:0000733)1.90960770
117Hyperthyroidism (HP:0000836)1.87291022
118Focal dystonia (HP:0004373)1.86865457
119Sleep apnea (HP:0010535)1.86808615
120Lower limb muscle weakness (HP:0007340)1.85011322
121Cerebral inclusion bodies (HP:0100314)1.84450578
122Morphological abnormality of the pyramidal tract (HP:0002062)1.81643925
123Rigidity (HP:0002063)1.80563602
124Congenital primary aphakia (HP:0007707)1.80474175
125Postural tremor (HP:0002174)1.80047559
126Aplasia/Hypoplasia of the brainstem (HP:0007362)1.79724161
127Hypoplasia of the brainstem (HP:0002365)1.79724161
128Neoplasm of the peripheral nervous system (HP:0100007)1.79630454
129Ventricular fibrillation (HP:0001663)1.78251243
130Horizontal nystagmus (HP:0000666)1.77229224
131Inappropriate behavior (HP:0000719)1.76550414
132Impaired vibratory sensation (HP:0002495)1.76545978

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.59434741
2MARK14.14434456
3MAP3K43.83867145
4MAP2K73.54388444
5MAP3K93.30881952
6MAP3K123.09465131
7CASK2.95328038
8MINK12.67447501
9NTRK22.56641075
10MAP2K42.52397996
11EPHA42.46640476
12FGFR21.82419825
13MAPK131.80937480
14TNIK1.76426484
15PLK21.66925839
16DAPK21.61738158
17GRK51.58861460
18PAK61.57224860
19NTRK11.52304006
20RIPK41.43524899
21CDK51.38619844
22CAMKK11.38455280
23PRKCG1.35261562
24PHKG21.29613902
25PHKG11.29613902
26STK391.29021621
27PNCK1.27016791
28DAPK11.20039877
29AKT31.17724831
30CDK191.17662281
31LATS21.16511168
32UHMK11.14615163
33SIK21.14580920
34KSR11.12003382
35CAMKK21.11214329
36CAMK2A1.08149254
37SGK21.06780488
38PRPF4B1.06746025
39SGK4941.03235161
40SGK2231.03235161
41STK381.01502785
42FES0.99256236
43KSR20.96193733
44CSNK1G20.94194265
45MAPK100.93443924
46NME10.93367005
47NEK60.91674579
48RIPK10.89888870
49CAMK2B0.87456648
50CDK180.85656344
51ARAF0.84680657
52CDK150.82549524
53CDK140.81473879
54MAPKAPK50.80487572
55OXSR10.79739809
56DYRK1A0.77298921
57SGK30.72639865
58RET0.72384505
59PRKCE0.72166901
60PRKCH0.71340502
61PRKD30.71144989
62STK110.70844484
63MAPK120.70250809
64ERBB40.70122512
65ADRBK20.69716200
66CDK11A0.68863415
67MAP4K20.68829928
68MAP3K60.68716026
69TSSK60.67331924
70PAK30.65142759
71SGK10.64464158
72CAMK2G0.64385647
73PINK10.63995457
74CAMK10.63770530
75GRK70.63156893
76WNK10.60522383
77WNK30.58714124
78CAMK2D0.58031657
79MUSK0.57896611
80PDK10.56991567
81PDK40.56149457
82PDK30.56149457
83ERBB30.56113042
84SIK30.55384694
85CSNK1G30.54251898
86BMPR20.54042383
87TNK20.52681226
88BCR0.51600637
89LMTK20.50795946
90ALK0.49947772
91MAP3K20.49010741
92TYRO30.48814252
93RPS6KA30.48064987
94PRKD10.47904852
95RPS6KA20.47716149
96PRKCZ0.47681803
97RAF10.47189772
98CCNB10.46923525
99FGR0.45888540
100ADRBK10.43299194
101PDPK10.42542852
102CSNK1D0.42147995
103PKN10.41165060
104MARK20.40798608
105PRKG10.40583637
106MAP3K110.40128929
107PRKACA0.39910860
108FYN0.39623363
109CAMK1G0.39380209
110ROCK20.38634038
111PRKCB0.36106633
112PDGFRA0.36008597
113MAP3K130.35066819
114CAMK40.34657078
115PBK0.34527856
116GSK3B0.32523652
117RPS6KB10.30753567
118CSNK1A1L0.30350242
119PRKCA0.30280625
120ERBB20.30242027
121LIMK10.29569256

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.57798119
2Synaptic vesicle cycle_Homo sapiens_hsa047213.76604942
3GABAergic synapse_Homo sapiens_hsa047273.00324029
4Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.98790467
5Morphine addiction_Homo sapiens_hsa050322.64078809
6Glutamatergic synapse_Homo sapiens_hsa047242.52794577
7Circadian entrainment_Homo sapiens_hsa047132.50195080
8Olfactory transduction_Homo sapiens_hsa047402.48128126
9Collecting duct acid secretion_Homo sapiens_hsa049662.42043381
10Long-term potentiation_Homo sapiens_hsa047202.36541323
11Amphetamine addiction_Homo sapiens_hsa050312.19983849
12Taste transduction_Homo sapiens_hsa047422.11478832
13Dopaminergic synapse_Homo sapiens_hsa047282.11462240
14Salivary secretion_Homo sapiens_hsa049701.99590193
15Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.93266649
16Long-term depression_Homo sapiens_hsa047301.84526192
17Serotonergic synapse_Homo sapiens_hsa047261.84400829
18Insulin secretion_Homo sapiens_hsa049111.83253141
19Gastric acid secretion_Homo sapiens_hsa049711.68453840
20Cholinergic synapse_Homo sapiens_hsa047251.68387392
21Cocaine addiction_Homo sapiens_hsa050301.60263479
22Aldosterone synthesis and secretion_Homo sapiens_hsa049251.54688216
23Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.53146156
24Calcium signaling pathway_Homo sapiens_hsa040201.52204872
25Vibrio cholerae infection_Homo sapiens_hsa051101.49233555
26Renin secretion_Homo sapiens_hsa049241.45853323
27Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.42956883
28Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.39829437
29Oxidative phosphorylation_Homo sapiens_hsa001901.39512337
30Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.35685959
31Oxytocin signaling pathway_Homo sapiens_hsa049211.34194548
32Histidine metabolism_Homo sapiens_hsa003401.33903998
33Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.31574125
34Gap junction_Homo sapiens_hsa045401.28797438
35Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.27352229
36GnRH signaling pathway_Homo sapiens_hsa049121.25243604
37Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.18997059
38Cardiac muscle contraction_Homo sapiens_hsa042601.18935838
39Axon guidance_Homo sapiens_hsa043601.07413666
40Type II diabetes mellitus_Homo sapiens_hsa049301.06679283
41Parkinsons disease_Homo sapiens_hsa050121.04951577
42Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.03772742
43cAMP signaling pathway_Homo sapiens_hsa040241.02835210
44Estrogen signaling pathway_Homo sapiens_hsa049151.01958016
45Alzheimers disease_Homo sapiens_hsa050101.01912040
46Phosphatidylinositol signaling system_Homo sapiens_hsa040701.01109337
47Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.00114055
48ErbB signaling pathway_Homo sapiens_hsa040120.92125998
49beta-Alanine metabolism_Homo sapiens_hsa004100.87503536
50Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.85448546
51Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.83179565
52Melanogenesis_Homo sapiens_hsa049160.83008301
53Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.80545959
54cGMP-PKG signaling pathway_Homo sapiens_hsa040220.79057291
55Arginine and proline metabolism_Homo sapiens_hsa003300.75254306
56Vascular smooth muscle contraction_Homo sapiens_hsa042700.75014311
57Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.74723194
58Type I diabetes mellitus_Homo sapiens_hsa049400.74105100
59Pancreatic secretion_Homo sapiens_hsa049720.71809858
60Glioma_Homo sapiens_hsa052140.70735025
61Thyroid hormone synthesis_Homo sapiens_hsa049180.67984379
62Phototransduction_Homo sapiens_hsa047440.67652506
63Vitamin B6 metabolism_Homo sapiens_hsa007500.66973341
64Huntingtons disease_Homo sapiens_hsa050160.65577791
65Ether lipid metabolism_Homo sapiens_hsa005650.64448173
66Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.64159781
67MAPK signaling pathway_Homo sapiens_hsa040100.62059030
68Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.61498324
69Rheumatoid arthritis_Homo sapiens_hsa053230.61206210
70Oocyte meiosis_Homo sapiens_hsa041140.61175514
71Endocytosis_Homo sapiens_hsa041440.60480316
72Dilated cardiomyopathy_Homo sapiens_hsa054140.60238562
73Phospholipase D signaling pathway_Homo sapiens_hsa040720.58088331
74Circadian rhythm_Homo sapiens_hsa047100.57479144
75Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.56320868
76Fatty acid biosynthesis_Homo sapiens_hsa000610.56033495
77Dorso-ventral axis formation_Homo sapiens_hsa043200.52960147
78Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.49587581
79Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.48370762
80Tight junction_Homo sapiens_hsa045300.48323120
81Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.48016511
82Butanoate metabolism_Homo sapiens_hsa006500.47461902
83Phagosome_Homo sapiens_hsa041450.47104303
84Choline metabolism in cancer_Homo sapiens_hsa052310.46336133
85Regulation of autophagy_Homo sapiens_hsa041400.46164706
86Inositol phosphate metabolism_Homo sapiens_hsa005620.45471725
87ABC transporters_Homo sapiens_hsa020100.45291929
88VEGF signaling pathway_Homo sapiens_hsa043700.44460066
89Alcoholism_Homo sapiens_hsa050340.43918278
90Ras signaling pathway_Homo sapiens_hsa040140.43265938
91Glucagon signaling pathway_Homo sapiens_hsa049220.43261787
92Ovarian steroidogenesis_Homo sapiens_hsa049130.42068638
93Neurotrophin signaling pathway_Homo sapiens_hsa047220.41813550
94Arginine biosynthesis_Homo sapiens_hsa002200.38303688
95Mineral absorption_Homo sapiens_hsa049780.37546921
96Rap1 signaling pathway_Homo sapiens_hsa040150.37263505
97Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.37001675
98Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.35998275
99Carbohydrate digestion and absorption_Homo sapiens_hsa049730.35968733
100SNARE interactions in vesicular transport_Homo sapiens_hsa041300.35669206
101Nitrogen metabolism_Homo sapiens_hsa009100.35580355
102Bile secretion_Homo sapiens_hsa049760.35564834
103Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.34311099
104mTOR signaling pathway_Homo sapiens_hsa041500.34101147
105Hippo signaling pathway_Homo sapiens_hsa043900.34088215
106Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.33313377
107Longevity regulating pathway - mammal_Homo sapiens_hsa042110.33309775
108Sphingolipid signaling pathway_Homo sapiens_hsa040710.32890311
109Endometrial cancer_Homo sapiens_hsa052130.30948358
110Insulin signaling pathway_Homo sapiens_hsa049100.28504714
111Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.28287412
112Wnt signaling pathway_Homo sapiens_hsa043100.27484369
113Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.25873445
114Thyroid hormone signaling pathway_Homo sapiens_hsa049190.25616943
115Melanoma_Homo sapiens_hsa052180.25060565
116Prion diseases_Homo sapiens_hsa050200.24986238
117African trypanosomiasis_Homo sapiens_hsa051430.24501910
1182-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.23804184
119Colorectal cancer_Homo sapiens_hsa052100.23158508
120Renal cell carcinoma_Homo sapiens_hsa052110.22908779
121Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.22547480

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