RBFOX1

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 Fox-1 family of RNA-binding proteins is evolutionarily conserved, and regulates tissue-specific alternative splicing in metazoa. Fox-1 recognizes a (U)GCAUG stretch in regulated exons or in flanking introns. The protein binds to the C-terminus of ataxin-2 and may contribute to the restricted pathology of spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is the product of the SCA2 gene which causes familial neurodegenerative diseases. Fox-1 and ataxin-2 are both localized in the trans-Golgi network. Several 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
1regulation of short-term neuronal synaptic plasticity (GO:0048172)5.77972399
2positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.54932828
3vocalization behavior (GO:0071625)5.36294254
4synaptic vesicle maturation (GO:0016188)5.35100268
5locomotory exploration behavior (GO:0035641)5.32663670
6regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.29438139
7synaptic vesicle exocytosis (GO:0016079)5.27262449
8neuronal action potential propagation (GO:0019227)5.20504483
9positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.09621997
10ionotropic glutamate receptor signaling pathway (GO:0035235)5.03919186
11glutamate secretion (GO:0014047)4.97344715
12regulation of glutamate receptor signaling pathway (GO:1900449)4.95172048
13regulation of synaptic vesicle exocytosis (GO:2000300)4.78330911
14synaptic vesicle docking involved in exocytosis (GO:0016081)4.78298013
15protein localization to synapse (GO:0035418)4.71502583
16glutamate receptor signaling pathway (GO:0007215)4.50475237
17synaptic transmission, glutamatergic (GO:0035249)4.41170257
18neuron cell-cell adhesion (GO:0007158)4.38472345
19regulation of long-term neuronal synaptic plasticity (GO:0048169)4.38177931
20regulation of synaptic vesicle transport (GO:1902803)4.36185758
21regulation of neuronal synaptic plasticity (GO:0048168)4.35678317
22regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.35480713
23exploration behavior (GO:0035640)4.32118984
24regulation of synapse structural plasticity (GO:0051823)4.30219956
25neuron-neuron synaptic transmission (GO:0007270)4.24923722
26membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.22937653
27neurotransmitter secretion (GO:0007269)4.22243416
28neurotransmitter-gated ion channel clustering (GO:0072578)4.17971514
29L-amino acid import (GO:0043092)4.17053065
30regulation of excitatory postsynaptic membrane potential (GO:0060079)4.03913321
31regulation of cell communication by electrical coupling (GO:0010649)3.90262841
32long-term memory (GO:0007616)3.87005254
33potassium ion import (GO:0010107)3.84038314
34regulation of postsynaptic membrane potential (GO:0060078)3.80311477
35potassium ion homeostasis (GO:0055075)3.77071706
36positive regulation of synapse maturation (GO:0090129)3.75812076
37regulation of dendritic spine morphogenesis (GO:0061001)3.72854716
38positive regulation of membrane potential (GO:0045838)3.72788565
39regulation of synaptic plasticity (GO:0048167)3.68612620
40layer formation in cerebral cortex (GO:0021819)3.65820550
41gamma-aminobutyric acid transport (GO:0015812)3.65757249
42amino acid import (GO:0043090)3.64284385
43dendritic spine morphogenesis (GO:0060997)3.62778485
44neuromuscular synaptic transmission (GO:0007274)3.62089230
45sarcoplasmic reticulum calcium ion transport (GO:0070296)3.58743717
46neuron recognition (GO:0008038)3.57637937
47cellular potassium ion homeostasis (GO:0030007)3.55688513
48gamma-aminobutyric acid signaling pathway (GO:0007214)3.54928963
49positive regulation of dendritic spine morphogenesis (GO:0061003)3.52170770
50long-term synaptic potentiation (GO:0060291)3.51799901
51positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)3.49733080
52negative regulation of synaptic transmission, GABAergic (GO:0032229)3.49232507
53central nervous system myelination (GO:0022010)3.48941521
54axon ensheathment in central nervous system (GO:0032291)3.48941521
55regulation of synaptic transmission, glutamatergic (GO:0051966)3.46787798
56cellular sodium ion homeostasis (GO:0006883)3.45746597
57transmission of nerve impulse (GO:0019226)3.43797973
58membrane depolarization during action potential (GO:0086010)3.43551594
59positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.41731944
60regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.41484985
61regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)3.39055385
62neurotransmitter transport (GO:0006836)3.38894859
63detection of calcium ion (GO:0005513)3.38706338
64activation of protein kinase A activity (GO:0034199)3.37513388
65cell communication involved in cardiac conduction (GO:0086065)3.36962584
66membrane depolarization (GO:0051899)3.36376434
67behavioral defense response (GO:0002209)3.36172946
68behavioral fear response (GO:0001662)3.36172946
69regulation of neurotransmitter secretion (GO:0046928)3.36010846
70positive regulation of synaptic transmission, GABAergic (GO:0032230)3.35986411
71G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.35797593
72positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.33321741
73synaptic vesicle endocytosis (GO:0048488)3.33089470
74cerebellar Purkinje cell differentiation (GO:0021702)3.32904792
75positive regulation of neurotransmitter secretion (GO:0001956)3.29603771
76G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.27896276
77regulation of vesicle fusion (GO:0031338)3.26983299
78positive regulation of neurotransmitter transport (GO:0051590)3.25552394
79presynaptic membrane assembly (GO:0097105)3.25078760
80regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.24475813
81regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)3.24119331
82postsynaptic membrane organization (GO:0001941)3.23858433
83proline transport (GO:0015824)3.23388891
84cell migration in hindbrain (GO:0021535)3.20814086
85axonal fasciculation (GO:0007413)3.20636206
86regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.19968597
87negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.19278129
88regulation of neurotransmitter levels (GO:0001505)3.18358695
89cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.18009623
90regulation of dendritic spine development (GO:0060998)3.16654169
91* neuromuscular process controlling balance (GO:0050885)3.16558057
92response to histamine (GO:0034776)3.15921414
93fear response (GO:0042596)3.15495022
94regulation of neurotransmitter transport (GO:0051588)3.13737001
95regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.13690860
96cerebellar granule cell differentiation (GO:0021707)3.13628497
97presynaptic membrane organization (GO:0097090)3.12146018
98learning (GO:0007612)3.09855802
99auditory behavior (GO:0031223)3.08967441
100prepulse inhibition (GO:0060134)3.08633372
101regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)3.08326459
102neuromuscular process controlling posture (GO:0050884)3.08179698
103positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.05946558
104membrane hyperpolarization (GO:0060081)3.04909144
105neurotransmitter uptake (GO:0001504)3.04650709
106synaptic transmission (GO:0007268)3.03624864
107cell communication by electrical coupling (GO:0010644)3.01988861
108regulation of synaptic transmission (GO:0050804)3.01568569
109sodium ion export (GO:0071436)3.01390864
110positive regulation of synaptic transmission (GO:0050806)3.00810826
111neuronal ion channel clustering (GO:0045161)2.99689236
112innervation (GO:0060384)2.98323320
113vesicle transport along microtubule (GO:0047496)2.98302110
114regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.98301628
115behavioral response to cocaine (GO:0048148)2.98154456
116negative regulation of dendrite morphogenesis (GO:0050774)2.96488274
117regulation of voltage-gated calcium channel activity (GO:1901385)2.96320456
118long term synaptic depression (GO:0060292)2.94057703
119regulation of synapse maturation (GO:0090128)2.94034356
120positive regulation of dendritic spine development (GO:0060999)2.92911926
121striatum development (GO:0021756)2.90447274
122regulation of sodium ion transmembrane transporter activity (GO:2000649)2.89459081

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.39793925
2GBX2_23144817_ChIP-Seq_PC3_Human3.70932125
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.20419231
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.10235389
5JARID2_20064375_ChIP-Seq_MESCs_Mouse3.10093943
6EZH2_18974828_ChIP-Seq_MESCs_Mouse2.76731731
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.76731731
8RARB_27405468_Chip-Seq_BRAIN_Mouse2.74603599
9* REST_21632747_ChIP-Seq_MESCs_Mouse2.68649849
10SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.67220644
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.66797364
12MTF2_20144788_ChIP-Seq_MESCs_Mouse2.53808107
13SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.52382803
14EZH2_27304074_Chip-Seq_ESCs_Mouse2.50628715
15SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.49404873
16SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.48178655
17DROSHA_22980978_ChIP-Seq_HELA_Human2.45989490
18EED_16625203_ChIP-ChIP_MESCs_Mouse2.26720655
19EZH2_27294783_Chip-Seq_ESCs_Mouse2.23564904
20REST_18959480_ChIP-ChIP_MESCs_Mouse2.21825416
21SUZ12_27294783_Chip-Seq_ESCs_Mouse2.21666937
22RNF2_27304074_Chip-Seq_ESCs_Mouse2.16863702
23MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.00577580
24AR_21572438_ChIP-Seq_LNCaP_Human1.93170154
25IKZF1_21737484_ChIP-ChIP_HCT116_Human1.91911498
26TAF15_26573619_Chip-Seq_HEK293_Human1.84801683
27ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.83027880
28CTBP2_25329375_ChIP-Seq_LNCAP_Human1.81161009
29NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.80847078
30CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.77876052
31THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.75069495
32CTBP1_25329375_ChIP-Seq_LNCAP_Human1.73675923
33SMAD4_21799915_ChIP-Seq_A2780_Human1.71338747
34GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.70639332
35EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.66658837
36* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.65730739
37ERG_21242973_ChIP-ChIP_JURKAT_Human1.51331942
38ZFP57_27257070_Chip-Seq_ESCs_Mouse1.48695966
39PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.45915804
40P300_19829295_ChIP-Seq_ESCs_Human1.43316595
41ZNF274_21170338_ChIP-Seq_K562_Hela1.41115656
42NR3C1_23031785_ChIP-Seq_PC12_Mouse1.37633999
43TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.36849560
44SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.36097109
45PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.34576799
46SOX2_21211035_ChIP-Seq_LN229_Gbm1.33246713
47GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.31535192
48SMAD3_21741376_ChIP-Seq_EPCs_Human1.31070658
49AR_25329375_ChIP-Seq_VCAP_Human1.30335265
50RING1B_27294783_Chip-Seq_ESCs_Mouse1.25888216
51CBX2_27304074_Chip-Seq_ESCs_Mouse1.25127853
52TOP2B_26459242_ChIP-Seq_MCF-7_Human1.23849990
53ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.23225960
54STAT3_23295773_ChIP-Seq_U87_Human1.22481916
55RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.22323410
56SMAD_19615063_ChIP-ChIP_OVARY_Human1.22113876
57BMI1_23680149_ChIP-Seq_NPCS_Mouse1.20775459
58OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.20674883
59RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.19335713
60AR_19668381_ChIP-Seq_PC3_Human1.18346360
61PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.14918698
62DNAJC2_21179169_ChIP-ChIP_NT2_Human1.14842879
63PIAS1_25552417_ChIP-Seq_VCAP_Human1.13979626
64TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.13732922
65* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.13329074
66P53_22127205_ChIP-Seq_FIBROBLAST_Human1.11159229
67CDX2_19796622_ChIP-Seq_MESCs_Mouse1.09797364
68* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.09615748
69ARNT_22903824_ChIP-Seq_MCF-7_Human1.08304054
70TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.08141561
71TCF4_23295773_ChIP-Seq_U87_Human1.07865185
72RING1B_27294783_Chip-Seq_NPCs_Mouse1.06498592
73POU3F2_20337985_ChIP-ChIP_501MEL_Human1.06443660
74ZNF217_24962896_ChIP-Seq_MCF-7_Human1.05105460
75SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.05004803
76CTCF_27219007_Chip-Seq_Bcells_Human1.04710487
77YAP1_20516196_ChIP-Seq_MESCs_Mouse1.03710423
78RNF2_27304074_Chip-Seq_NSC_Mouse1.02802523
79AHR_22903824_ChIP-Seq_MCF-7_Human1.02650008
80MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.00971375
81PRDM14_20953172_ChIP-Seq_ESCs_Human1.00902697
82ZFP281_27345836_Chip-Seq_ESCs_Mouse1.00508441
83IGF1R_20145208_ChIP-Seq_DFB_Human1.00400737
84UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.99525746
85POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.99383663
86WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.99059146
87AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.97917462
88OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.97908166
89TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.97807138
90FUS_26573619_Chip-Seq_HEK293_Human0.97066515
91EP300_21415370_ChIP-Seq_HL-1_Mouse0.95805798
92TP53_16413492_ChIP-PET_HCT116_Human0.95562136
93RUNX2_22187159_ChIP-Seq_PCA_Human0.95557934
94LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.94518624
95NR3C1_21868756_ChIP-Seq_MCF10A_Human0.93169996
96VDR_22108803_ChIP-Seq_LS180_Human0.93075133
97EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.92922793
98KDM2B_26808549_Chip-Seq_K562_Human0.92880732
99SMAD3_21741376_ChIP-Seq_HESCs_Human0.92637317
100TP53_20018659_ChIP-ChIP_R1E_Mouse0.92352411
101SMAD3_21741376_ChIP-Seq_ESCs_Human0.92300125
102SMAD4_21741376_ChIP-Seq_HESCs_Human0.92071530
103GATA1_26923725_Chip-Seq_HPCs_Mouse0.91399271
104RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.91231066
105CTNNB1_20460455_ChIP-Seq_HCT116_Human0.90995973
106TET1_21490601_ChIP-Seq_MESCs_Mouse0.90986117
107JUN_21703547_ChIP-Seq_K562_Human0.90186310
108BCAT_22108803_ChIP-Seq_LS180_Human0.89916554
109ZFP281_18757296_ChIP-ChIP_E14_Mouse0.88865876
110PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.88150106
111RXR_22108803_ChIP-Seq_LS180_Human0.87686249
112EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.87639943
113TP53_18474530_ChIP-ChIP_U2OS_Human0.86998988
114VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.85960907
115TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.84609510
116* SOX9_26525672_Chip-Seq_HEART_Mouse0.82086841
117BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.80412827
118FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.79990004
119KDM2B_26808549_Chip-Seq_REH_Human0.79379548
120DPY_21335234_ChIP-Seq_ESCs_Mouse0.78996966

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.67629774
2MP0003880_abnormal_central_pattern5.03872043
3MP0003635_abnormal_synaptic_transmissio4.17900708
4MP0004270_analgesia3.93492387
5MP0009745_abnormal_behavioral_response3.51256920
6MP0002063_abnormal_learning/memory/cond3.37877256
7MP0002822_catalepsy3.32120905
8MP0001968_abnormal_touch/_nociception3.18349127
9MP0002064_seizures3.17843334
10MP0009046_muscle_twitch3.11328397
11MP0002572_abnormal_emotion/affect_behav2.82655949
12MP0002272_abnormal_nervous_system2.68493023
13MP0002734_abnormal_mechanical_nocicepti2.65460285
14MP0002735_abnormal_chemical_nociception2.58340198
15MP0002736_abnormal_nociception_after2.57673013
16MP0001486_abnormal_startle_reflex2.49803681
17MP0001501_abnormal_sleep_pattern2.32508377
18MP0005423_abnormal_somatic_nervous2.32160518
19MP0001440_abnormal_grooming_behavior2.21560388
20MP0002733_abnormal_thermal_nociception2.05774694
21MP0002067_abnormal_sensory_capabilities2.02685885
22MP0001970_abnormal_pain_threshold2.00539313
23MP0008569_lethality_at_weaning1.90334820
24MP0002184_abnormal_innervation1.81015685
25MP0004145_abnormal_muscle_electrophysio1.76388973
26MP0004924_abnormal_behavior1.75223534
27MP0005386_behavior/neurological_phenoty1.75223534
28MP0003329_amyloid_beta_deposits1.72199538
29MP0004811_abnormal_neuron_physiology1.70154141
30MP0000778_abnormal_nervous_system1.68693149
31MP0009780_abnormal_chondrocyte_physiolo1.67318722
32MP0002557_abnormal_social/conspecific_i1.65089874
33MP0000751_myopathy1.63308959
34MP0004858_abnormal_nervous_system1.62233526
35MP0006276_abnormal_autonomic_nervous1.61049761
36MP0003879_abnormal_hair_cell1.58196180
37MP0002909_abnormal_adrenal_gland1.58032416
38MP0005646_abnormal_pituitary_gland1.49934666
39MP0000955_abnormal_spinal_cord1.48073557
40MP0001984_abnormal_olfaction1.45411922
41MP0001529_abnormal_vocalization1.45195268
42MP0002066_abnormal_motor_capabilities/c1.41705430
43MP0002882_abnormal_neuron_morphology1.34671872
44MP0002837_dystrophic_cardiac_calcinosis1.33854621
45MP0003633_abnormal_nervous_system1.32981615
46MP0003787_abnormal_imprinting1.30271272
47MP0004142_abnormal_muscle_tone1.24809217
48MP0004885_abnormal_endolymph1.23981199
49MP0003123_paternal_imprinting1.21235818
50MP0001905_abnormal_dopamine_level1.20161992
51MP0001188_hyperpigmentation1.20083498
52MP0003646_muscle_fatigue1.10243622
53MP0003631_nervous_system_phenotype1.10083548
54MP0001502_abnormal_circadian_rhythm1.07538161
55MP0008874_decreased_physiological_sensi1.02960714
56MP0002152_abnormal_brain_morphology1.00945831
57MP0008872_abnormal_physiological_respon1.00064959
58MP0004215_abnormal_myocardial_fiber0.99406675
59MP0004147_increased_porphyrin_level0.98263078
60MP0004085_abnormal_heartbeat0.96225092
61MP0005645_abnormal_hypothalamus_physiol0.95812628
62MP0004484_altered_response_of0.92734543
63MP0002069_abnormal_eating/drinking_beha0.90161644
64MP0002229_neurodegeneration0.89584471
65MP0000013_abnormal_adipose_tissue0.83774486
66MP0003122_maternal_imprinting0.83557839
67MP0005535_abnormal_body_temperature0.82732153
68MP0002638_abnormal_pupillary_reflex0.81488078
69MP0001986_abnormal_taste_sensitivity0.81065459
70MP0004087_abnormal_muscle_fiber0.80945277
71MP0004742_abnormal_vestibular_system0.80617428
72MP0010386_abnormal_urinary_bladder0.80178523
73MP0003075_altered_response_to0.79502944
74MP0004233_abnormal_muscle_weight0.79471661
75MP0000749_muscle_degeneration0.79172020
76MP0001177_atelectasis0.77715367
77MP0001963_abnormal_hearing_physiology0.77385284
78MP0005409_darkened_coat_color0.77191447
79MP0003137_abnormal_impulse_conducting0.77032619
80MP0004084_abnormal_cardiac_muscle0.75173721
81MP0004510_myositis0.74675505
82MP0001346_abnormal_lacrimal_gland0.74650738
83MP0004036_abnormal_muscle_relaxation0.74026592
84MP0000747_muscle_weakness0.73951451
85MP0005551_abnormal_eye_electrophysiolog0.72112711
86MP0000604_amyloidosis0.71836164
87MP0005620_abnormal_muscle_contractility0.70607073
88MP0002752_abnormal_somatic_nervous0.70329974
89MP0005369_muscle_phenotype0.70186086
90MP0008877_abnormal_DNA_methylation0.69497581
91MP0003634_abnormal_glial_cell0.69177771
92MP0000920_abnormal_myelination0.68850399
93MP0003632_abnormal_nervous_system0.68820271
94MP0001485_abnormal_pinna_reflex0.67409940
95MP0005394_taste/olfaction_phenotype0.65202839
96MP0005499_abnormal_olfactory_system0.65202839
97MP0004130_abnormal_muscle_cell0.64650087
98MP0008961_abnormal_basal_metabolism0.63492148
99MP0000569_abnormal_digit_pigmentation0.62641289
100MP0002876_abnormal_thyroid_physiology0.61649147
101MP0002269_muscular_atrophy0.59781799
102MP0004043_abnormal_pH_regulation0.58538397
103MP0010769_abnormal_survival0.58450829
104MP0002972_abnormal_cardiac_muscle0.58412169
105MP0001664_abnormal_digestion0.58387730
106MP0003690_abnormal_glial_cell0.58116430
107MP0010768_mortality/aging0.54958466
108MP0000631_abnormal_neuroendocrine_gland0.54313374
109MP0001943_abnormal_respiration0.52316574
110MP0000759_abnormal_skeletal_muscle0.51779427
111MP0002090_abnormal_vision0.51579590
112MP0002106_abnormal_muscle_physiology0.50651355
113MP0001299_abnormal_eye_distance/0.50000501

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)8.64161640
2Myokymia (HP:0002411)7.27544206
3Focal seizures (HP:0007359)6.05271578
4Visual hallucinations (HP:0002367)5.07504521
5Epileptic encephalopathy (HP:0200134)4.99846567
6Atonic seizures (HP:0010819)4.93142326
7Febrile seizures (HP:0002373)4.72903801
8Progressive cerebellar ataxia (HP:0002073)4.41725258
9Absence seizures (HP:0002121)4.36755466
10Dialeptic seizures (HP:0011146)4.05866555
11Action tremor (HP:0002345)4.00973602
12Generalized tonic-clonic seizures (HP:0002069)3.97704294
13Broad-based gait (HP:0002136)3.94181390
14Muscle fiber inclusion bodies (HP:0100299)3.70931020
15Hyperventilation (HP:0002883)3.68892503
16Nemaline bodies (HP:0003798)3.64719483
17Gaze-evoked nystagmus (HP:0000640)3.59977833
18Poor eye contact (HP:0000817)3.56579667
19Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)3.56096177
20Impaired vibration sensation in the lower limbs (HP:0002166)3.44830311
21Dysdiadochokinesis (HP:0002075)3.26107935
22Amblyopia (HP:0000646)3.25545470
23Impaired social interactions (HP:0000735)3.21637623
24Abnormal social behavior (HP:0012433)3.21637623
25Depression (HP:0000716)3.12356865
26Dysmetria (HP:0001310)3.11783249
27Supranuclear gaze palsy (HP:0000605)3.10674712
28Ankle clonus (HP:0011448)3.09320206
29Anxiety (HP:0000739)3.07226275
30Urinary bladder sphincter dysfunction (HP:0002839)3.01462724
31Truncal ataxia (HP:0002078)3.01106398
32Akinesia (HP:0002304)2.92474171
33Cerebral hypomyelination (HP:0006808)2.91532659
34Type 1 muscle fiber predominance (HP:0003803)2.87140941
35Scanning speech (HP:0002168)2.81423168
36Exercise-induced muscle cramps (HP:0003710)2.80817860
37Dysmetric saccades (HP:0000641)2.78609958
38Abnormal eating behavior (HP:0100738)2.75073532
39Hyporeflexia of lower limbs (HP:0002600)2.74162972
40Urinary urgency (HP:0000012)2.72472378
41Genetic anticipation (HP:0003743)2.69651373
42Impaired smooth pursuit (HP:0007772)2.65514875
43Postural instability (HP:0002172)2.65383660
44Abnormality of the lower motor neuron (HP:0002366)2.63529190
45Excessive salivation (HP:0003781)2.62622219
46Drooling (HP:0002307)2.62622219
47Tetraplegia (HP:0002445)2.61076805
48Muscle fiber splitting (HP:0003555)2.59430795
49Fetal akinesia sequence (HP:0001989)2.54290638
50Epileptiform EEG discharges (HP:0011182)2.54027788
51Torticollis (HP:0000473)2.49232810
52Exercise-induced myalgia (HP:0003738)2.47883469
53Insidious onset (HP:0003587)2.45624848
54Termporal pattern (HP:0011008)2.45624848
55Mutism (HP:0002300)2.44132642
56Stereotypic behavior (HP:0000733)2.44128299
57Progressive inability to walk (HP:0002505)2.42801146
58Spastic gait (HP:0002064)2.40958118
59Focal dystonia (HP:0004373)2.39132610
60Absent speech (HP:0001344)2.38030125
61Impaired vibratory sensation (HP:0002495)2.37357035
62Heart block (HP:0012722)2.35054440
63EMG: myopathic abnormalities (HP:0003458)2.34884095
64Hemiparesis (HP:0001269)2.34611574
65Pheochromocytoma (HP:0002666)2.34073737
66EEG with generalized epileptiform discharges (HP:0011198)2.33109193
67Annular pancreas (HP:0001734)2.31666390
68Ventricular fibrillation (HP:0001663)2.30569617
69Bradykinesia (HP:0002067)2.29515196
70Distal arthrogryposis (HP:0005684)2.27819172
71Papilledema (HP:0001085)2.27416046
72Abnormality of binocular vision (HP:0011514)2.27014319
73Diplopia (HP:0000651)2.27014319
74Difficulty running (HP:0009046)2.26829662
75Abnormality of ocular smooth pursuit (HP:0000617)2.25277685
76Status epilepticus (HP:0002133)2.24969671
77Intention tremor (HP:0002080)2.20283712
78Cerebral inclusion bodies (HP:0100314)2.19993052
79Hypsarrhythmia (HP:0002521)2.19667091
80Inability to walk (HP:0002540)2.18885466
81EMG: neuropathic changes (HP:0003445)2.15565425
82Neuronal loss in central nervous system (HP:0002529)2.13410156
83Incomplete penetrance (HP:0003829)2.12137926
84Clonus (HP:0002169)2.11636371
85Hemiplegia (HP:0002301)2.11623911
86Craniofacial dystonia (HP:0012179)2.10615426
87Abnormal atrioventricular conduction (HP:0005150)2.10439083
88Muscle hypertrophy of the lower extremities (HP:0008968)2.08898100
89Abnormality of the corticospinal tract (HP:0002492)2.08556744
90Myotonia (HP:0002486)2.06185734
91Neurofibrillary tangles (HP:0002185)2.05761480
92Neuroendocrine neoplasm (HP:0100634)2.04576991
93Frequent falls (HP:0002359)2.04164544
94Sleep apnea (HP:0010535)2.04153892
95Abnormality of the calf musculature (HP:0001430)2.03796460
96Spastic tetraparesis (HP:0001285)2.00849336
97Lower limb muscle weakness (HP:0007340)2.00435213
98Bundle branch block (HP:0011710)1.99404751
99Gait ataxia (HP:0002066)1.98703961
100Abnormality of the foot musculature (HP:0001436)1.98208109
101Resting tremor (HP:0002322)1.98178875
102Lower limb amyotrophy (HP:0007210)1.97071141
103Sudden death (HP:0001699)1.95479149
104Abnormal EKG (HP:0003115)1.94839617
105Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.94399978
106Degeneration of the lateral corticospinal tracts (HP:0002314)1.94399978
107Generalized myoclonic seizures (HP:0002123)1.94390936
108Blue irides (HP:0000635)1.92312527
109Foot dorsiflexor weakness (HP:0009027)1.92055156
110Megalencephaly (HP:0001355)1.91207051
111Pointed chin (HP:0000307)1.86775453
112Protruding tongue (HP:0010808)1.86293339
113Lower limb asymmetry (HP:0100559)1.85805582
114Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.85200550
115Calf muscle hypertrophy (HP:0008981)1.84421883
116Psychosis (HP:0000709)1.83938956
117Rapidly progressive (HP:0003678)1.81711252
118Prolonged QT interval (HP:0001657)1.81035963
119Delusions (HP:0000746)1.80679387
120Polyphagia (HP:0002591)1.78405608
121Abnormality of saccadic eye movements (HP:0000570)1.76966342
122Abnormality of salivation (HP:0100755)1.75465262
123Obstructive sleep apnea (HP:0002870)1.75315495
124Limb dystonia (HP:0002451)1.74568949
125Syncope (HP:0001279)1.71842095
126Rigidity (HP:0002063)1.70185363

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA44.88337681
2NTRK34.66185059
3MAP3K93.54952802
4MAP3K43.00371137
5MINK12.63909212
6DAPK22.56996609
7MAP2K72.54436723
8OBSCN2.44673822
9RIPK42.43608968
10MARK12.39962886
11KSR22.25628670
12CASK2.22403749
13MAP3K122.16934365
14PAK62.06096086
15MAP2K42.04277265
16DAPK11.78328047
17CAMKK11.76449601
18KSR11.73191998
19NTRK11.70897994
20NTRK21.66685352
21ARAF1.64676987
22PRKD31.61344361
23PRPF4B1.56900698
24CDK191.54978258
25PLK21.52160538
26CDK51.50045857
27TNIK1.50039289
28GRK51.46101213
29PNCK1.37291185
30SIK21.28146620
31CAMKK21.28044433
32MAPK131.26348412
33PRKCG1.25475842
34PHKG11.25016712
35PHKG21.25016712
36FES1.24224935
37MAP3K131.22819721
38STK381.19870586
39MAP3K21.13408873
40PTK2B1.11221595
41NME11.07322349
42CAMK2A1.06834835
43RIPK11.01342546
44PINK11.00953306
45BMPR20.99648768
46CAMK2B0.96659379
47SGK2230.95087504
48SGK4940.95087504
49RAF10.93979834
50UHMK10.92887670
51PKN10.91206838
52CAMK10.89081631
53SGK20.89004877
54CDK180.87920126
55CDK140.85108303
56CDK150.83965049
57TYRO30.83044735
58OXSR10.81484874
59RET0.78532537
60TAOK10.77405513
61LIMK10.75303018
62STK110.74096795
63SGK10.73866767
64CDK11A0.72902968
65PDK10.69997474
66SGK30.69959652
67LATS20.67660169
68LMTK20.67462660
69PRKCH0.66956843
70PDPK10.66907951
71TTN0.62831616
72MAP3K10.60542427
73SIK30.60231634
74PAK30.59337962
75CAMK2D0.58015379
76DYRK1A0.57223678
77NEK10.55932032
78MAP2K10.55134861
79MARK20.54544536
80WNK10.54000045
81CAMK2G0.52670703
82MAP3K70.52575642
83CCNB10.51953171
84FER0.51893520
85PRKCE0.51395895
86NEK60.50581123
87FGR0.47625092
88CAMK40.46506840
89TNK20.46374806
90RPS6KA30.46345682
91BRAF0.45855889
92PRKCZ0.44499841
93PRKG10.44263771
94AKT30.43986050
95CSNK1G20.43450964
96MAPK120.43433895
97DMPK0.42245075
98DAPK30.41486219
99ALK0.40776066
100MUSK0.40092977
101MAP3K60.39314915
102PRKACA0.38960456
103FYN0.38094691
104ROCK10.36843780
105MAPK100.36663625
106MAPK40.35327177
107FGFR20.34564337
108PDK40.34503664
109PDK30.34503664
110MAP3K110.33883228
111PRKCA0.33850432
112CDC42BPA0.32840572
113ROCK20.32453285
114DYRK20.31972577
115CAMK1G0.29376970
116MAPK80.27887507
117MOS0.27667892
118PRKCB0.26337006

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.74934222
2Synaptic vesicle cycle_Homo sapiens_hsa047213.16051713
3Long-term potentiation_Homo sapiens_hsa047202.91472353
4Olfactory transduction_Homo sapiens_hsa047402.77666043
5Circadian entrainment_Homo sapiens_hsa047132.77157851
6Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.72933386
7Glutamatergic synapse_Homo sapiens_hsa047242.63660488
8Amphetamine addiction_Homo sapiens_hsa050312.60598398
9GABAergic synapse_Homo sapiens_hsa047272.58343315
10Morphine addiction_Homo sapiens_hsa050322.47909950
11Dopaminergic synapse_Homo sapiens_hsa047282.23039277
12Salivary secretion_Homo sapiens_hsa049702.19274612
13Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.13522700
14Insulin secretion_Homo sapiens_hsa049111.94811253
15Cholinergic synapse_Homo sapiens_hsa047251.91258982
16Gastric acid secretion_Homo sapiens_hsa049711.90867465
17Aldosterone synthesis and secretion_Homo sapiens_hsa049251.83796992
18Long-term depression_Homo sapiens_hsa047301.82867493
19Taste transduction_Homo sapiens_hsa047421.82482832
20Oxytocin signaling pathway_Homo sapiens_hsa049211.80006681
21Renin secretion_Homo sapiens_hsa049241.78437437
22Calcium signaling pathway_Homo sapiens_hsa040201.75801641
23Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.74321910
24Serotonergic synapse_Homo sapiens_hsa047261.65757776
25Cocaine addiction_Homo sapiens_hsa050301.56889687
26Collecting duct acid secretion_Homo sapiens_hsa049661.55493931
27GnRH signaling pathway_Homo sapiens_hsa049121.51338552
28Gap junction_Homo sapiens_hsa045401.36008129
29Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.34343193
30Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.33055138
31Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.32310541
32cAMP signaling pathway_Homo sapiens_hsa040241.29685411
33Cardiac muscle contraction_Homo sapiens_hsa042601.25960937
34Phosphatidylinositol signaling system_Homo sapiens_hsa040701.15979304
35cGMP-PKG signaling pathway_Homo sapiens_hsa040221.10836484
36Type II diabetes mellitus_Homo sapiens_hsa049301.09534141
37Glioma_Homo sapiens_hsa052141.09405969
38Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.07899215
39Estrogen signaling pathway_Homo sapiens_hsa049151.06342726
40Axon guidance_Homo sapiens_hsa043601.03230493
41Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.02237132
42Melanogenesis_Homo sapiens_hsa049161.00477801
43ErbB signaling pathway_Homo sapiens_hsa040121.00044962
44Vascular smooth muscle contraction_Homo sapiens_hsa042700.98926719
45Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.98070684
46Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.95988328
47Vibrio cholerae infection_Homo sapiens_hsa051100.91234014
48Oocyte meiosis_Homo sapiens_hsa041140.89968470
49Dilated cardiomyopathy_Homo sapiens_hsa054140.88451127
50Pancreatic secretion_Homo sapiens_hsa049720.86877624
51Vitamin B6 metabolism_Homo sapiens_hsa007500.81155118
52Dorso-ventral axis formation_Homo sapiens_hsa043200.80683141
53Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.80024261
54Phospholipase D signaling pathway_Homo sapiens_hsa040720.78862739
55Phototransduction_Homo sapiens_hsa047440.76846941
56VEGF signaling pathway_Homo sapiens_hsa043700.72307804
57Choline metabolism in cancer_Homo sapiens_hsa052310.71785661
58MAPK signaling pathway_Homo sapiens_hsa040100.71271209
59Alzheimers disease_Homo sapiens_hsa050100.71061914
60Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.70649031
61Thyroid hormone synthesis_Homo sapiens_hsa049180.69736975
62Glucagon signaling pathway_Homo sapiens_hsa049220.68896016
63Neurotrophin signaling pathway_Homo sapiens_hsa047220.61651123
642-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.58974062
65Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.58706732
66Nitrogen metabolism_Homo sapiens_hsa009100.58147488
67Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.58144207
68Arginine and proline metabolism_Homo sapiens_hsa003300.57039210
69Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.56337632
70Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.55631773
71Ras signaling pathway_Homo sapiens_hsa040140.54749420
72Rap1 signaling pathway_Homo sapiens_hsa040150.53901620
73Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.53367449
74Circadian rhythm_Homo sapiens_hsa047100.53307711
75Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.52615091
76Oxidative phosphorylation_Homo sapiens_hsa001900.49590173
77Sphingolipid signaling pathway_Homo sapiens_hsa040710.49567118
78Arginine biosynthesis_Homo sapiens_hsa002200.48526399
79Carbohydrate digestion and absorption_Homo sapiens_hsa049730.48059452
80Thyroid hormone signaling pathway_Homo sapiens_hsa049190.47791637
81Inositol phosphate metabolism_Homo sapiens_hsa005620.46466184
82mTOR signaling pathway_Homo sapiens_hsa041500.46094125
83Insulin signaling pathway_Homo sapiens_hsa049100.45003081
84African trypanosomiasis_Homo sapiens_hsa051430.44565512
85Alcoholism_Homo sapiens_hsa050340.43057296
86Tight junction_Homo sapiens_hsa045300.42522671
87Parkinsons disease_Homo sapiens_hsa050120.42141023
88Non-small cell lung cancer_Homo sapiens_hsa052230.41738937
89Endocytosis_Homo sapiens_hsa041440.37708015
90Bile secretion_Homo sapiens_hsa049760.37678981
91AMPK signaling pathway_Homo sapiens_hsa041520.37232634
92Wnt signaling pathway_Homo sapiens_hsa043100.36788002
93Longevity regulating pathway - mammal_Homo sapiens_hsa042110.36324184
94Type I diabetes mellitus_Homo sapiens_hsa049400.36204561
95Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.36129003
96Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.35828016
97Endometrial cancer_Homo sapiens_hsa052130.33699284
98Renal cell carcinoma_Homo sapiens_hsa052110.33411497
99Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.32646580
100Prion diseases_Homo sapiens_hsa050200.32159411
101Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.32157484
102Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.31864079
103Chemokine signaling pathway_Homo sapiens_hsa040620.26807465
104Histidine metabolism_Homo sapiens_hsa003400.25937113
105Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.25615375
106Ovarian steroidogenesis_Homo sapiens_hsa049130.25549875
107Mineral absorption_Homo sapiens_hsa049780.25377311
108Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.23716700
109SNARE interactions in vesicular transport_Homo sapiens_hsa041300.19960614
110beta-Alanine metabolism_Homo sapiens_hsa004100.19877952
111Hippo signaling pathway_Homo sapiens_hsa043900.16782946

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