NOVA1

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 neuron-specific RNA-binding protein, a member of the Nova family of paraneoplastic disease antigens, that is recognized and inhibited by paraneoplastic antibodies. These antibodies are found in the sera of patients with paraneoplastic opsoclonus-ataxia, breast cancer, and small cell lung cancer. Alternatively spliced transcripts encoding distinct isoforms have been described. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1neuron cell-cell adhesion (GO:0007158)6.08176601
2vocalization behavior (GO:0071625)5.37799022
3regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.31901278
4dendritic spine morphogenesis (GO:0060997)4.90239005
5regulation of short-term neuronal synaptic plasticity (GO:0048172)4.81662371
6positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.81483423
7regulation of glutamate receptor signaling pathway (GO:1900449)4.65900948
8protein localization to synapse (GO:0035418)4.63961873
9ionotropic glutamate receptor signaling pathway (GO:0035235)4.61665378
10neuron recognition (GO:0008038)4.59661603
11presynaptic membrane assembly (GO:0097105)4.57559640
12locomotory exploration behavior (GO:0035641)4.51043634
13postsynaptic membrane organization (GO:0001941)4.34776928
14synaptic vesicle exocytosis (GO:0016079)4.33488202
15axonal fasciculation (GO:0007413)4.29582762
16positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.26460404
17presynaptic membrane organization (GO:0097090)4.26428962
18pyrimidine nucleobase catabolic process (GO:0006208)4.24400420
19layer formation in cerebral cortex (GO:0021819)4.22485321
20positive regulation of synapse assembly (GO:0051965)4.20887293
21glutamate receptor signaling pathway (GO:0007215)4.14827050
22regulation of respiratory gaseous exchange by neurological system process (GO:0002087)4.12910397
23auditory behavior (GO:0031223)4.12428707
24regulation of inhibitory postsynaptic membrane potential (GO:0060080)4.12161264
25regulation of synaptic vesicle exocytosis (GO:2000300)4.08812966
26neurotransmitter-gated ion channel clustering (GO:0072578)4.08445585
27neurotransmitter secretion (GO:0007269)4.00283473
28synaptic vesicle maturation (GO:0016188)3.98425837
29regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.94829923
30exploration behavior (GO:0035640)3.94534078
31synaptic transmission, glutamatergic (GO:0035249)3.92822102
32dendrite morphogenesis (GO:0048813)3.89825621
33neuronal action potential propagation (GO:0019227)3.87211884
34cell migration in hindbrain (GO:0021535)3.85694732
35establishment of mitochondrion localization (GO:0051654)3.79348149
36neuron-neuron synaptic transmission (GO:0007270)3.70053112
37behavioral response to nicotine (GO:0035095)3.66730924
38regulation of synapse structural plasticity (GO:0051823)3.66106779
39regulation of respiratory system process (GO:0044065)3.65545641
40righting reflex (GO:0060013)3.62857826
41startle response (GO:0001964)3.61856643
42glutamate secretion (GO:0014047)3.60569923
43mechanosensory behavior (GO:0007638)3.60229242
44regulation of synaptic vesicle transport (GO:1902803)3.56525022
45transmission of nerve impulse (GO:0019226)3.56416393
46cerebellar Purkinje cell differentiation (GO:0021702)3.54628130
47response to pheromone (GO:0019236)3.51416954
48positive regulation of synaptic transmission, GABAergic (GO:0032230)3.49842444
49response to auditory stimulus (GO:0010996)3.49204257
50prepulse inhibition (GO:0060134)3.49061998
51synaptic vesicle docking involved in exocytosis (GO:0016081)3.48394953
52regulation of synapse assembly (GO:0051963)3.47433426
53central nervous system projection neuron axonogenesis (GO:0021952)3.46138471
54gamma-aminobutyric acid transport (GO:0015812)3.45036669
55retinal ganglion cell axon guidance (GO:0031290)3.43276479
56negative regulation of microtubule polymerization (GO:0031115)3.43010286
57synapse assembly (GO:0007416)3.39030292
58cerebellar granule cell differentiation (GO:0021707)3.38473033
59regulation of long-term neuronal synaptic plasticity (GO:0048169)3.37608649
60regulation of neuronal synaptic plasticity (GO:0048168)3.36720377
61neurotransmitter transport (GO:0006836)3.34247868
62membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.32963385
63positive regulation of membrane potential (GO:0045838)3.32285319
64regulation of respiratory gaseous exchange (GO:0043576)3.32217484
65gamma-aminobutyric acid signaling pathway (GO:0007214)3.29952721
66nucleobase catabolic process (GO:0046113)3.28452611
67regulation of excitatory postsynaptic membrane potential (GO:0060079)3.27976067
68regulation of postsynaptic membrane potential (GO:0060078)3.25517355
69membrane hyperpolarization (GO:0060081)3.22618288
70dendrite development (GO:0016358)3.21377939
71regulation of synaptic transmission, glutamatergic (GO:0051966)3.20673893
72regulation of dendritic spine morphogenesis (GO:0061001)3.19057373
73long-term memory (GO:0007616)3.18119048
74positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.16579685
75synapse organization (GO:0050808)3.16084702
76G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.13129194
77neurofilament cytoskeleton organization (GO:0060052)3.11652134
78nonmotile primary cilium assembly (GO:0035058)3.10943654
79regulation of synapse organization (GO:0050807)3.09838112
80regulation of neurotransmitter levels (GO:0001505)3.04385073
81negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.02334236
82neuromuscular synaptic transmission (GO:0007274)3.01594097
83negative regulation of synaptic transmission, GABAergic (GO:0032229)3.01037033
84proline transport (GO:0015824)2.99971068
85membrane depolarization (GO:0051899)2.99225298
86positive regulation of dendritic spine development (GO:0060999)2.97448511
87establishment of mitochondrion localization, microtubule-mediated (GO:0034643)2.95530207
88mitochondrion transport along microtubule (GO:0047497)2.95530207
89response to histamine (GO:0034776)2.95500815
90cerebellum development (GO:0021549)2.95274601
91cell differentiation in hindbrain (GO:0021533)2.95059813
92neuronal ion channel clustering (GO:0045161)2.93634359
93neuronal action potential (GO:0019228)2.93168660
94dendritic spine organization (GO:0097061)2.91750460
95learning (GO:0007612)2.91247437
96axon ensheathment in central nervous system (GO:0032291)2.90911671
97central nervous system myelination (GO:0022010)2.90911671
98long-term synaptic potentiation (GO:0060291)2.90397163
99establishment of nucleus localization (GO:0040023)2.89959599
100positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.89750687
101positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.89640720
102innervation (GO:0060384)2.89142335
103positive regulation of synapse maturation (GO:0090129)2.89073870
104membrane depolarization during action potential (GO:0086010)2.89031001
105axon extension (GO:0048675)2.85901439
106regulation of cAMP-dependent protein kinase activity (GO:2000479)2.84635540
107glycosphingolipid biosynthetic process (GO:0006688)2.84634974
108regulation of neurotransmitter secretion (GO:0046928)2.84610292
109adult walking behavior (GO:0007628)2.81158641
110cerebral cortex radially oriented cell migration (GO:0021799)2.80936663
111social behavior (GO:0035176)2.80738825
112intraspecies interaction between organisms (GO:0051703)2.80738825
113positive regulation of dendritic spine morphogenesis (GO:0061003)2.80691471
114negative regulation of cytosolic calcium ion concentration (GO:0051481)2.79944042
115calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)2.78989783
116spinal cord development (GO:0021510)2.76012906
117positive regulation of action potential (GO:0045760)2.73969768
118regulation of action potential (GO:0098900)2.73867127
119negative regulation of axon extension (GO:0030517)2.72556550
120cellular potassium ion homeostasis (GO:0030007)2.70019389
121negative regulation of axonogenesis (GO:0050771)2.66890159
122regulation of synaptic transmission, GABAergic (GO:0032228)2.66334870
123adult behavior (GO:0030534)2.65775084
124central nervous system neuron axonogenesis (GO:0021955)2.64992997
125hippocampus development (GO:0021766)2.63277340
126protein polyglutamylation (GO:0018095)2.61359600
127regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.59221799

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.29608015
2GBX2_23144817_ChIP-Seq_PC3_Human3.91758490
3JARID2_20064375_ChIP-Seq_MESCs_Mouse3.10254820
4SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.96688830
5EZH2_27304074_Chip-Seq_ESCs_Mouse2.92920778
6SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.89713717
7GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.72746219
8NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.70608473
9RNF2_18974828_ChIP-Seq_MESCs_Mouse2.64756130
10EZH2_18974828_ChIP-Seq_MESCs_Mouse2.64756130
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.63984830
12SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.57378504
13EED_16625203_ChIP-ChIP_MESCs_Mouse2.54059984
14* REST_21632747_ChIP-Seq_MESCs_Mouse2.50718078
15SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.45214990
16SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.41952761
17TAF15_26573619_Chip-Seq_HEK293_Human2.32056499
18EZH2_27294783_Chip-Seq_ESCs_Mouse2.30653680
19MTF2_20144788_ChIP-Seq_MESCs_Mouse2.27326296
20SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.26420852
21* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.25396562
22RNF2_27304074_Chip-Seq_ESCs_Mouse2.19200709
23CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.18457115
24* CTBP2_25329375_ChIP-Seq_LNCAP_Human2.17575316
25* CBX2_27304074_Chip-Seq_ESCs_Mouse2.09901294
26ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.99190289
27AR_21572438_ChIP-Seq_LNCaP_Human1.98712906
28REST_18959480_ChIP-ChIP_MESCs_Mouse1.95706307
29* CTBP1_25329375_ChIP-Seq_LNCAP_Human1.90920536
30DROSHA_22980978_ChIP-Seq_HELA_Human1.90671045
31ZFP57_27257070_Chip-Seq_ESCs_Mouse1.90346463
32BMI1_23680149_ChIP-Seq_NPCS_Mouse1.84735736
33RBPJ_22232070_ChIP-Seq_NCS_Mouse1.80771272
34PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.80463272
35RARB_27405468_Chip-Seq_BRAIN_Mouse1.77100349
36ZNF274_21170338_ChIP-Seq_K562_Hela1.71166911
37PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.70338386
38RNF2_27304074_Chip-Seq_NSC_Mouse1.68887293
39RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.68859188
40P300_19829295_ChIP-Seq_ESCs_Human1.56910066
41* SMAD4_21799915_ChIP-Seq_A2780_Human1.54179950
42SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.53534928
43IKZF1_21737484_ChIP-ChIP_HCT116_Human1.52197551
44* RING1B_27294783_Chip-Seq_ESCs_Mouse1.48044310
45SMAD3_21741376_ChIP-Seq_EPCs_Human1.46097423
46* POU3F2_20337985_ChIP-ChIP_501MEL_Human1.44835392
47IGF1R_20145208_ChIP-Seq_DFB_Human1.44243356
48SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.41297929
49OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.39745978
50ERG_21242973_ChIP-ChIP_JURKAT_Human1.36242159
51PIAS1_25552417_ChIP-Seq_VCAP_Human1.35566957
52SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.35504502
53RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.34458194
54* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.34076865
55FUS_26573619_Chip-Seq_HEK293_Human1.31409168
56MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.30729893
57EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.29978338
58* SOX2_21211035_ChIP-Seq_LN229_Gbm1.29615029
59* RING1B_27294783_Chip-Seq_NPCs_Mouse1.27791004
60CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.26949805
61GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.24425054
62CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.23985078
63AR_25329375_ChIP-Seq_VCAP_Human1.22918889
64TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.22199212
65POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.20884807
66TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.20884807
67ER_23166858_ChIP-Seq_MCF-7_Human1.18486031
68TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.17514759
69STAT3_23295773_ChIP-Seq_U87_Human1.16482528
70MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.16242027
71FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.14423996
72P53_22127205_ChIP-Seq_FIBROBLAST_Human1.14166437
73NR3C1_23031785_ChIP-Seq_PC12_Mouse1.14163097
74UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.13550316
75MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.13238303
76RUNX2_22187159_ChIP-Seq_PCA_Human1.12265480
77* ARNT_22903824_ChIP-Seq_MCF-7_Human1.11575751
78AR_19668381_ChIP-Seq_PC3_Human1.08587182
79TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.07811147
80YAP1_20516196_ChIP-Seq_MESCs_Mouse1.07044579
81CDX2_19796622_ChIP-Seq_MESCs_Mouse1.06123346
82CBP_20019798_ChIP-Seq_JUKART_Human1.05969331
83IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.05969331
84VDR_22108803_ChIP-Seq_LS180_Human1.05778809
85* AHR_22903824_ChIP-Seq_MCF-7_Human1.05010451
86* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.04043271
87MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.03493259
88TCF4_23295773_ChIP-Seq_U87_Human1.03422523
89STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.01762898
90* TAL1_26923725_Chip-Seq_HPCs_Mouse1.01203294
91RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.01140647
92POU5F1_16153702_ChIP-ChIP_HESCs_Human1.00615417
93TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.00348552
94* NR3C1_21868756_ChIP-Seq_MCF10A_Human0.98626129
95* KDM2B_26808549_Chip-Seq_REH_Human0.98192268
96BCAT_22108803_ChIP-Seq_LS180_Human0.98083988
97EWS_26573619_Chip-Seq_HEK293_Human0.96106321
98SMAD3_21741376_ChIP-Seq_ESCs_Human0.95797654
99OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.94239852
100KLF5_20875108_ChIP-Seq_MESCs_Mouse0.93963552
101TP53_20018659_ChIP-ChIP_R1E_Mouse0.93852505
102NANOG_18555785_Chip-Seq_ESCs_Mouse0.93547351
103EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.92623100
104* ZNF217_24962896_ChIP-Seq_MCF-7_Human0.91837309
105WT1_25993318_ChIP-Seq_PODOCYTE_Human0.91815435
106PRDM14_20953172_ChIP-Seq_ESCs_Human0.91160755
107TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.90687705
108JUN_21703547_ChIP-Seq_K562_Human0.90434477
109HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.89793707
110CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.89062678
111* KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.87313411
112LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.85155079
113* SOX9_26525672_Chip-Seq_HEART_Mouse0.84802539

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003880_abnormal_central_pattern5.07735681
2MP0004859_abnormal_synaptic_plasticity4.69025302
3MP0003635_abnormal_synaptic_transmissio3.59680164
4MP0005423_abnormal_somatic_nervous3.47989656
5MP0004270_analgesia3.21476092
6MP0002063_abnormal_learning/memory/cond2.93094203
7MP0009745_abnormal_behavioral_response2.88070621
8MP0002064_seizures2.73275455
9MP0001486_abnormal_startle_reflex2.71818334
10MP0006276_abnormal_autonomic_nervous2.68648213
11MP0001968_abnormal_touch/_nociception2.67401170
12MP0009046_muscle_twitch2.64980538
13MP0000778_abnormal_nervous_system2.64962987
14MP0002572_abnormal_emotion/affect_behav2.63830261
15MP0002734_abnormal_mechanical_nocicepti2.47830318
16MP0001529_abnormal_vocalization2.44405836
17MP0002272_abnormal_nervous_system2.33335251
18MP0003122_maternal_imprinting2.28191610
19MP0002184_abnormal_innervation2.18639814
20MP0005645_abnormal_hypothalamus_physiol2.11635270
21MP0002067_abnormal_sensory_capabilities2.09258488
22MP0002736_abnormal_nociception_after2.06022957
23MP0001440_abnormal_grooming_behavior2.00028081
24MP0002557_abnormal_social/conspecific_i1.98996550
25MP0002733_abnormal_thermal_nociception1.82427874
26MP0005386_behavior/neurological_phenoty1.81462120
27MP0004924_abnormal_behavior1.81462120
28MP0001970_abnormal_pain_threshold1.72723619
29MP0002735_abnormal_chemical_nociception1.72059023
30MP0004142_abnormal_muscle_tone1.69072622
31MP0001984_abnormal_olfaction1.68245682
32MP0001501_abnormal_sleep_pattern1.64323914
33MP0000569_abnormal_digit_pigmentation1.60888482
34MP0008569_lethality_at_weaning1.60012285
35MP0005646_abnormal_pituitary_gland1.59688222
36* MP0000955_abnormal_spinal_cord1.59676284
37MP0008877_abnormal_DNA_methylation1.56498104
38MP0004885_abnormal_endolymph1.55874125
39* MP0004811_abnormal_neuron_physiology1.55686598
40MP0004742_abnormal_vestibular_system1.55539119
41MP0002882_abnormal_neuron_morphology1.54997341
42MP0001188_hyperpigmentation1.51368091
43MP0003787_abnormal_imprinting1.45375538
44MP0002653_abnormal_ependyma_morphology1.43516014
45* MP0002066_abnormal_motor_capabilities/c1.41277769
46MP0002152_abnormal_brain_morphology1.37294271
47MP0001905_abnormal_dopamine_level1.33323378
48MP0001502_abnormal_circadian_rhythm1.31717383
49MP0004858_abnormal_nervous_system1.29447254
50MP0002909_abnormal_adrenal_gland1.29311266
51MP0003136_yellow_coat_color1.28182073
52MP0000631_abnormal_neuroendocrine_gland1.26704011
53MP0002638_abnormal_pupillary_reflex1.25969742
54MP0003329_amyloid_beta_deposits1.23607310
55MP0003121_genomic_imprinting1.22076097
56MP0000751_myopathy1.16403557
57MP0002822_catalepsy1.11766121
58MP0002102_abnormal_ear_morphology1.09695398
59MP0003123_paternal_imprinting1.07286400
60MP0005551_abnormal_eye_electrophysiolog1.07194563
61MP0003861_abnormal_nervous_system1.06912613
62MP0002752_abnormal_somatic_nervous1.05048621
63MP0003634_abnormal_glial_cell1.04098576
64MP0010386_abnormal_urinary_bladder1.02419828
65MP0009780_abnormal_chondrocyte_physiolo1.01962672
66MP0001963_abnormal_hearing_physiology0.98171840
67MP0000049_abnormal_middle_ear0.97644906
68MP0003137_abnormal_impulse_conducting0.96851888
69MP0006072_abnormal_retinal_apoptosis0.96199081
70MP0001485_abnormal_pinna_reflex0.95718951
71MP0002069_abnormal_eating/drinking_beha0.94692893
72MP0005499_abnormal_olfactory_system0.92512074
73MP0005394_taste/olfaction_phenotype0.92512074
74MP0001299_abnormal_eye_distance/0.92374280
75MP0003890_abnormal_embryonic-extraembry0.91315609
76MP0005409_darkened_coat_color0.90448360
77MP0004145_abnormal_muscle_electrophysio0.90158949
78MP0002229_neurodegeneration0.88836081
79MP0005187_abnormal_penis_morphology0.88506944
80MP0002751_abnormal_autonomic_nervous0.87011637
81MP0003119_abnormal_digestive_system0.87003604
82MP0003938_abnormal_ear_development0.86543347
83MP0000026_abnormal_inner_ear0.86129202
84MP0002234_abnormal_pharynx_morphology0.84905679
85MP0003633_abnormal_nervous_system0.82129270
86MP0003631_nervous_system_phenotype0.81831492
87MP0003385_abnormal_body_wall0.81797456
88MP0001943_abnormal_respiration0.81256191
89MP0000920_abnormal_myelination0.80774987
90MP0004085_abnormal_heartbeat0.80690522
91MP0003879_abnormal_hair_cell0.80252157
92MP0005195_abnormal_posterior_eye0.80234723
93MP0000566_synostosis0.76187098
94MP0003632_abnormal_nervous_system0.75830561
95MP0005253_abnormal_eye_physiology0.75097953
96MP0003690_abnormal_glial_cell0.74936598
97MP0001986_abnormal_taste_sensitivity0.72332331
98* MP0010770_preweaning_lethality0.68061768
99* MP0002082_postnatal_lethality0.68061768
100MP0001177_atelectasis0.67378174
101* MP0010769_abnormal_survival0.65964990
102MP0006292_abnormal_olfactory_placode0.64767857
103MP0002081_perinatal_lethality0.64453955
104MP0000534_abnormal_ureter_morphology0.64110698
105MP0003011_delayed_dark_adaptation0.63237540
106MP0003283_abnormal_digestive_organ0.63089770
107* MP0010768_mortality/aging0.62730619
108MP0008872_abnormal_physiological_respon0.61392994
109MP0009379_abnormal_foot_pigmentation0.61247793
110MP0002938_white_spotting0.61098283
111MP0002928_abnormal_bile_duct0.60745261
112MP0008961_abnormal_basal_metabolism0.60587754
113MP0004215_abnormal_myocardial_fiber0.59585416
114MP0002837_dystrophic_cardiac_calcinosis0.58879473
115MP0008789_abnormal_olfactory_epithelium0.58625933
116MP0004133_heterotaxia0.57899108

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)5.79399795
2Myokymia (HP:0002411)4.75975677
3Focal seizures (HP:0007359)4.75830027
4Atonic seizures (HP:0010819)4.45698861
5Epileptic encephalopathy (HP:0200134)4.11300230
6Progressive cerebellar ataxia (HP:0002073)3.98212441
7Febrile seizures (HP:0002373)3.87811738
8Absence seizures (HP:0002121)3.75362049
9Broad-based gait (HP:0002136)3.66366193
10Visual hallucinations (HP:0002367)3.62072613
11Excessive salivation (HP:0003781)3.45574326
12Drooling (HP:0002307)3.45574326
13Hyperventilation (HP:0002883)3.40977682
14Dialeptic seizures (HP:0011146)3.36750121
15Polyphagia (HP:0002591)3.30199479
16Generalized tonic-clonic seizures (HP:0002069)3.24594638
17Progressive inability to walk (HP:0002505)3.16631400
18Ankle clonus (HP:0011448)3.01287007
19Supranuclear gaze palsy (HP:0000605)3.00474453
20Medial flaring of the eyebrow (HP:0010747)2.98940858
21Mutism (HP:0002300)2.97961110
22True hermaphroditism (HP:0010459)2.90947092
23Abnormality of the corticospinal tract (HP:0002492)2.87885422
24Congenital primary aphakia (HP:0007707)2.87080338
25Abnormal eating behavior (HP:0100738)2.86790284
26Protruding tongue (HP:0010808)2.86737573
27Limb dystonia (HP:0002451)2.82458977
28Action tremor (HP:0002345)2.79032507
29Truncal ataxia (HP:0002078)2.75930242
30Hemiparesis (HP:0001269)2.74696032
31Amblyopia (HP:0000646)2.68246930
32Nephrogenic diabetes insipidus (HP:0009806)2.67440260
33Nephronophthisis (HP:0000090)2.65099480
34Abnormality of midbrain morphology (HP:0002418)2.60790911
35Molar tooth sign on MRI (HP:0002419)2.60790911
36Pancreatic fibrosis (HP:0100732)2.60171703
37Urinary urgency (HP:0000012)2.57778813
38Impaired vibration sensation in the lower limbs (HP:0002166)2.57137754
39Agitation (HP:0000713)2.55490983
40Poor eye contact (HP:0000817)2.55285064
41Failure to thrive in infancy (HP:0001531)2.54448576
42Pancreatic cysts (HP:0001737)2.54268871
43Spastic gait (HP:0002064)2.52725391
44Vaginal atresia (HP:0000148)2.51817585
45Genital tract atresia (HP:0001827)2.50278820
46Pachygyria (HP:0001302)2.42851374
47Dysdiadochokinesis (HP:0002075)2.40690992
48Amyotrophic lateral sclerosis (HP:0007354)2.40084314
49Depression (HP:0000716)2.35517305
50Anxiety (HP:0000739)2.34106512
51Absent speech (HP:0001344)2.30149805
52Degeneration of the lateral corticospinal tracts (HP:0002314)2.29795930
53Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.29795930
54Aplasia/Hypoplasia of the brainstem (HP:0007362)2.28154397
55Hypoplasia of the brainstem (HP:0002365)2.28154397
56Abnormality of salivation (HP:0100755)2.27145753
57Esotropia (HP:0000565)2.26310873
58Gaze-evoked nystagmus (HP:0000640)2.25073925
59Type II lissencephaly (HP:0007260)2.23149448
60Abnormality of the labia minora (HP:0012880)2.22945826
61Urinary bladder sphincter dysfunction (HP:0002839)2.21734988
62Impaired social interactions (HP:0000735)2.20398684
63Abnormal social behavior (HP:0012433)2.20398684
64Status epilepticus (HP:0002133)2.20055487
65Retinal dysplasia (HP:0007973)2.19431613
66Narrow nasal bridge (HP:0000446)2.19212379
67Blue irides (HP:0000635)2.19010074
68Specific learning disability (HP:0001328)2.18996973
69Insidious onset (HP:0003587)2.17872696
70Termporal pattern (HP:0011008)2.17872696
71Gait imbalance (HP:0002141)2.17050104
72Exotropia (HP:0000577)2.16183836
73Dysmetria (HP:0001310)2.15321164
74Fetal akinesia sequence (HP:0001989)2.14400646
75Pheochromocytoma (HP:0002666)2.13558809
76Lissencephaly (HP:0001339)2.13445961
77Poor coordination (HP:0002370)2.13108450
78Epileptiform EEG discharges (HP:0011182)2.12511462
79Optic nerve hypoplasia (HP:0000609)2.11854136
80Abnormality of the renal medulla (HP:0100957)2.11683036
81Genetic anticipation (HP:0003743)2.11483441
82Pendular nystagmus (HP:0012043)2.11387752
83EEG with generalized epileptiform discharges (HP:0011198)2.09802200
84Neurofibrillary tangles (HP:0002185)2.08734542
85Megalencephaly (HP:0001355)2.08506987
86Spastic tetraplegia (HP:0002510)2.06495131
87Inability to walk (HP:0002540)2.04814775
88Hypsarrhythmia (HP:0002521)1.99559408
89Lower limb muscle weakness (HP:0007340)1.98559056
90Aqueductal stenosis (HP:0002410)1.98009105
91Abnormality of the lower motor neuron (HP:0002366)1.97834712
92Sporadic (HP:0003745)1.96950729
93Hyperthyroidism (HP:0000836)1.94177649
94Hypoventilation (HP:0002791)1.93229653
95Autism (HP:0000717)1.92597287
96Stereotypic behavior (HP:0000733)1.92458209
97Narrow forehead (HP:0000341)1.91116534
98Abnormal hair whorl (HP:0010721)1.90981739
99Septo-optic dysplasia (HP:0100842)1.90652445
100Diplopia (HP:0000651)1.90314948
101Abnormality of binocular vision (HP:0011514)1.90314948
102Scanning speech (HP:0002168)1.89848483
103Torticollis (HP:0000473)1.89728935
104Inappropriate behavior (HP:0000719)1.87528007
105Morphological abnormality of the pyramidal tract (HP:0002062)1.85972019
106Shoulder girdle muscle weakness (HP:0003547)1.84690025
107Hypoplasia of the corpus callosum (HP:0002079)1.84289895
108Postaxial hand polydactyly (HP:0001162)1.82960145
109Cortical dysplasia (HP:0002539)1.81635191
110Cerebral inclusion bodies (HP:0100314)1.80695577
111Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.80252610
112Sleep apnea (HP:0010535)1.79024643
113Neoplasm of the heart (HP:0100544)1.79003441
114Neuroendocrine neoplasm (HP:0100634)1.78575648
115Hemiplegia (HP:0002301)1.76101127
116Sclerocornea (HP:0000647)1.75397553
117Cystic liver disease (HP:0006706)1.75082632
118Postural instability (HP:0002172)1.74961305
119Akinesia (HP:0002304)1.74838110
120Hepatoblastoma (HP:0002884)1.74225588
121Generalized hypotonia (HP:0001290)1.74061083
122Shawl scrotum (HP:0000049)1.71747339
123Oligodactyly (hands) (HP:0001180)1.71335087
124Psychosis (HP:0000709)1.70308987
125Poor suck (HP:0002033)1.68669344
126Ulnar claw (HP:0001178)1.68183856
127Open mouth (HP:0000194)1.68037284
128Absent/shortened dynein arms (HP:0200106)1.68031476
129Dynein arm defect of respiratory motile cilia (HP:0012255)1.68031476
130Broad foot (HP:0001769)1.68007912
131Neuronal loss in central nervous system (HP:0002529)1.66757302
132Intention tremor (HP:0002080)1.66571508
133Abolished electroretinogram (ERG) (HP:0000550)1.66497034
134Anencephaly (HP:0002323)1.64955143
135Anophthalmia (HP:0000528)1.63451724
136Cerebellar dysplasia (HP:0007033)1.62034512
137Volvulus (HP:0002580)1.61965999
138Congenital stationary night blindness (HP:0007642)1.61229254
139Aplasia/Hypoplasia of the lens (HP:0008063)1.61209718
140Split foot (HP:0001839)1.60762540
141Short foot (HP:0001773)1.59962023

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MARK15.11893973
2CASK4.15764140
3NTRK33.45879567
4MAP3K42.99166325
5NTRK22.87770062
6MAPK132.65247983
7MAP2K72.59372893
8MAP3K92.40342892
9EPHA42.34106165
10MINK12.33786387
11PNCK2.16089131
12TNIK2.06102114
13KSR11.97045169
14MAP3K121.96331988
15UHMK11.89511830
16PAK61.84911324
17SIK21.77173088
18MAP2K41.73606660
19DYRK21.73272613
20ERBB31.59423552
21DAPK21.57318205
22FRK1.57109708
23PINK11.54862026
24CDK191.52363200
25MAP4K21.47811711
26CDK51.39724445
27PHKG21.39245547
28PHKG11.39245547
29BCR1.36012268
30WNK31.25777596
31SGK2231.17756884
32SGK4941.17756884
33OXSR11.15248473
34TYRO31.12237664
35PRKCG1.06648954
36PLK21.03276536
37ADRBK21.02301055
38PAK30.98103924
39CSNK1G10.97948204
40CAMK1G0.96443213
41TRIM280.94434056
42LIMK10.94276029
43BMPR1B0.91860675
44FES0.91173876
45CDK180.91130322
46CAMK2A0.90858182
47EPHA30.89516641
48DYRK1A0.88222950
49PKN10.87672058
50NTRK10.86885506
51CSNK1G20.86591588
52SIK30.86094769
53CDK150.85370039
54CDK140.84958721
55KSR20.84017133
56CAMK2B0.83038410
57GRK10.82828194
58SGK20.81332481
59GRK50.79927998
60DAPK10.76231964
61MUSK0.75665421
62DYRK30.75384041
63GRK70.74780546
64CDK11A0.74167595
65PRKD30.72957970
66INSRR0.71691917
67STK110.69461588
68WNK40.68902531
69FGR0.66087285
70CSNK1G30.66014058
71CAMKK10.64329869
72STK160.63691516
73STK390.62927261
74ADRBK10.62086494
75PRKCE0.61970229
76MAPK150.61178563
77ROCK20.60396623
78DYRK1B0.60379813
79MKNK20.58880634
80SGK10.58824963
81CSNK1A1L0.58533026
82EPHB20.58503674
83AKT30.58042908
84CDC42BPA0.56918935
85PRKCZ0.55474905
86WNK10.53985286
87FGFR20.53306875
88MARK20.53102022
89CAMK2G0.53020130
90BCKDK0.50293412
91YES10.49625848
92ICK0.49584312
93ERBB20.49266830
94PRKCH0.49244531
95RET0.48868384
96ROCK10.48760628
97NME10.48494756
98PRPF4B0.48089803
99LATS20.47628630
100RPS6KA30.45246552
101SGK30.45154181
102PRKG10.45081520
103CSNK1D0.43617870
104RIPK40.43465417
105CSNK1A10.41614035
106NEK60.41395019
107IRAK20.40968370
108STK380.40511798
109RPS6KA20.40474832
110FYN0.40383854
111CAMKK20.39804617
112PDGFRA0.39557842
113PRKCB0.38883183
114MAP3K60.38445825
115CAMK2D0.38373676
116CAMK40.37657237
117CAMK10.37606905
118CDK30.37582167
119PRKACB0.37508295
120CSNK1E0.37424809
121ERBB40.37359271
122MAPK100.36660209
123PRKACA0.36632738
124PIK3CA0.33647304
125PRKAA10.33612509
126PRKDC0.31458490
127PRKCA0.30438573
128GSK3B0.29208461

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.58757820
2Synaptic vesicle cycle_Homo sapiens_hsa047212.96961179
3GABAergic synapse_Homo sapiens_hsa047272.85902745
4Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.72123335
5Glutamatergic synapse_Homo sapiens_hsa047242.60558625
6Morphine addiction_Homo sapiens_hsa050322.42842551
7Circadian entrainment_Homo sapiens_hsa047132.34534379
8Olfactory transduction_Homo sapiens_hsa047402.20024837
9Long-term potentiation_Homo sapiens_hsa047202.18183253
10Amphetamine addiction_Homo sapiens_hsa050312.10135360
11Dopaminergic synapse_Homo sapiens_hsa047282.06835048
12Taste transduction_Homo sapiens_hsa047421.94868730
13Axon guidance_Homo sapiens_hsa043601.93274625
14Serotonergic synapse_Homo sapiens_hsa047261.85382744
15Long-term depression_Homo sapiens_hsa047301.82984168
16Cocaine addiction_Homo sapiens_hsa050301.82562615
17Cholinergic synapse_Homo sapiens_hsa047251.80263535
18Insulin secretion_Homo sapiens_hsa049111.77305773
19Salivary secretion_Homo sapiens_hsa049701.70637844
20Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.68923471
21Renin secretion_Homo sapiens_hsa049241.58171762
22Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.57330832
23Cardiac muscle contraction_Homo sapiens_hsa042601.55756909
24Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.54339581
25Gap junction_Homo sapiens_hsa045401.53300474
26Gastric acid secretion_Homo sapiens_hsa049711.52659232
27Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.52622254
28Aldosterone synthesis and secretion_Homo sapiens_hsa049251.46215146
29Oxytocin signaling pathway_Homo sapiens_hsa049211.44645801
30Collecting duct acid secretion_Homo sapiens_hsa049661.41147426
31Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.38104827
32Calcium signaling pathway_Homo sapiens_hsa040201.36465231
33GnRH signaling pathway_Homo sapiens_hsa049121.26956125
34Oxidative phosphorylation_Homo sapiens_hsa001901.22777568
35Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.19815486
36ErbB signaling pathway_Homo sapiens_hsa040121.18325527
37cAMP signaling pathway_Homo sapiens_hsa040241.08069602
38Alzheimers disease_Homo sapiens_hsa050101.07682950
39Type II diabetes mellitus_Homo sapiens_hsa049301.06027739
40Melanogenesis_Homo sapiens_hsa049161.05995172
41Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.05055696
42Parkinsons disease_Homo sapiens_hsa050121.04511641
43Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.03183304
44Phototransduction_Homo sapiens_hsa047441.03097962
45Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.00769677
46Steroid biosynthesis_Homo sapiens_hsa001000.99370352
47Estrogen signaling pathway_Homo sapiens_hsa049150.98893712
48Vibrio cholerae infection_Homo sapiens_hsa051100.98557080
49Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.97321740
50Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.96010175
51Glioma_Homo sapiens_hsa052140.95371993
52Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.94531944
53Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.88570614
54Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.87177556
55Protein export_Homo sapiens_hsa030600.86475922
56Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.83957690
57Dilated cardiomyopathy_Homo sapiens_hsa054140.82518978
58Oocyte meiosis_Homo sapiens_hsa041140.82300780
59cGMP-PKG signaling pathway_Homo sapiens_hsa040220.81104659
60Alcoholism_Homo sapiens_hsa050340.81017295
61Renal cell carcinoma_Homo sapiens_hsa052110.77916946
62alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.77259185
63Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.76858135
64Huntingtons disease_Homo sapiens_hsa050160.76724336
65MAPK signaling pathway_Homo sapiens_hsa040100.75392796
66Phosphatidylinositol signaling system_Homo sapiens_hsa040700.72613631
67Wnt signaling pathway_Homo sapiens_hsa043100.71869840
68Phospholipase D signaling pathway_Homo sapiens_hsa040720.71655724
69Butanoate metabolism_Homo sapiens_hsa006500.71369368
70Linoleic acid metabolism_Homo sapiens_hsa005910.69418522
71Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.68966064
72Vascular smooth muscle contraction_Homo sapiens_hsa042700.68881081
73Dorso-ventral axis formation_Homo sapiens_hsa043200.67412134
74Choline metabolism in cancer_Homo sapiens_hsa052310.67230777
75Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.66686092
76Hedgehog signaling pathway_Homo sapiens_hsa043400.66128697
77Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.63930158
78Hippo signaling pathway_Homo sapiens_hsa043900.62530481
79Regulation of autophagy_Homo sapiens_hsa041400.62415658
80Ras signaling pathway_Homo sapiens_hsa040140.60985062
81Propanoate metabolism_Homo sapiens_hsa006400.58162334
82Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.56701596
83Endometrial cancer_Homo sapiens_hsa052130.56432496
84Colorectal cancer_Homo sapiens_hsa052100.55268812
85Pancreatic secretion_Homo sapiens_hsa049720.54406594
86Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.52695580
87Maturity onset diabetes of the young_Homo sapiens_hsa049500.51598858
88Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.51206850
89Rap1 signaling pathway_Homo sapiens_hsa040150.51190518
90Prion diseases_Homo sapiens_hsa050200.51009832
91Fatty acid biosynthesis_Homo sapiens_hsa000610.50222013
92Neurotrophin signaling pathway_Homo sapiens_hsa047220.48908050
93Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.48827023
94Sphingolipid signaling pathway_Homo sapiens_hsa040710.48332765
95Thyroid hormone synthesis_Homo sapiens_hsa049180.47992063
96Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.46217955
97Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.45951376
98Bile secretion_Homo sapiens_hsa049760.44128183
99Basal transcription factors_Homo sapiens_hsa030220.43573460
100Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.43409728
101Ovarian steroidogenesis_Homo sapiens_hsa049130.42896840
102beta-Alanine metabolism_Homo sapiens_hsa004100.41959534
103Nitrogen metabolism_Homo sapiens_hsa009100.40698157
104Basal cell carcinoma_Homo sapiens_hsa052170.38267773
105VEGF signaling pathway_Homo sapiens_hsa043700.37804703
106Phagosome_Homo sapiens_hsa041450.37438607
107Thyroid hormone signaling pathway_Homo sapiens_hsa049190.37389810
108Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.37141098
109Type I diabetes mellitus_Homo sapiens_hsa049400.36813418
110Insulin signaling pathway_Homo sapiens_hsa049100.36163836
111Glucagon signaling pathway_Homo sapiens_hsa049220.35928621
112Peroxisome_Homo sapiens_hsa041460.35712092
113Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.35080523
114Ether lipid metabolism_Homo sapiens_hsa005650.34345427
115Carbohydrate digestion and absorption_Homo sapiens_hsa049730.33591955
116Tryptophan metabolism_Homo sapiens_hsa003800.32529044
117Melanoma_Homo sapiens_hsa052180.32124982
118Circadian rhythm_Homo sapiens_hsa047100.31995576
119Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.29928443

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