FBXO44

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 F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. It is also a member of the NFB42 (neural F Box 42 kDa) family, similar to F-box only protein 2 and F-box only protein 6. Several alternatively spliced transcript variants encoding two distinct 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)5.07372412
2synaptic vesicle exocytosis (GO:0016079)4.93733108
3neuron cell-cell adhesion (GO:0007158)4.90488506
4neuronal action potential propagation (GO:0019227)4.81970655
5vocalization behavior (GO:0071625)4.80755593
6positive regulation of synapse maturation (GO:0090129)4.72647258
7synaptic vesicle maturation (GO:0016188)4.57961588
8positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.57480545
9central nervous system myelination (GO:0022010)4.56460942
10axon ensheathment in central nervous system (GO:0032291)4.56460942
11glutamate secretion (GO:0014047)4.53969709
12regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.53061251
13positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.42408922
14regulation of synaptic vesicle exocytosis (GO:2000300)4.40467883
15locomotory exploration behavior (GO:0035641)4.24581916
16protein localization to synapse (GO:0035418)4.19947876
17ionotropic glutamate receptor signaling pathway (GO:0035235)4.18530489
18regulation of glutamate receptor signaling pathway (GO:1900449)4.14320561
19regulation of voltage-gated calcium channel activity (GO:1901385)3.89295209
20regulation of synaptic vesicle transport (GO:1902803)3.86684007
21positive regulation of dendritic spine development (GO:0060999)3.86298797
22neuron recognition (GO:0008038)3.86008964
23regulation of synapse maturation (GO:0090128)3.85270520
24neurotransmitter secretion (GO:0007269)3.84540083
25presynaptic membrane organization (GO:0097090)3.82520725
26glutamate receptor signaling pathway (GO:0007215)3.82184194
27regulation of neuronal synaptic plasticity (GO:0048168)3.81708244
28synaptic transmission, glutamatergic (GO:0035249)3.79393816
29negative regulation of synaptic transmission, GABAergic (GO:0032229)3.78545999
30neuron-neuron synaptic transmission (GO:0007270)3.75900880
31regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.72651896
32membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.69580773
33potassium ion import (GO:0010107)3.69273175
34positive regulation of neurotransmitter transport (GO:0051590)3.65658206
35layer formation in cerebral cortex (GO:0021819)3.64759551
36positive regulation of neurotransmitter secretion (GO:0001956)3.59230256
37regulation of long-term neuronal synaptic plasticity (GO:0048169)3.58189280
38neurotransmitter-gated ion channel clustering (GO:0072578)3.54992653
39presynaptic membrane assembly (GO:0097105)3.53273543
40synaptic vesicle docking involved in exocytosis (GO:0016081)3.52699071
41exploration behavior (GO:0035640)3.48576348
42positive regulation of dendritic spine morphogenesis (GO:0061003)3.48356086
43dendritic spine organization (GO:0097061)3.47955945
44transmission of nerve impulse (GO:0019226)3.45468687
45establishment of mitochondrion localization (GO:0051654)3.44343154
46gamma-aminobutyric acid signaling pathway (GO:0007214)3.43017675
47axonal fasciculation (GO:0007413)3.42871181
48neuromuscular process controlling balance (GO:0050885)3.42182871
49gamma-aminobutyric acid transport (GO:0015812)3.40270643
50cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.40189814
51neurotransmitter transport (GO:0006836)3.40069561
52dendritic spine morphogenesis (GO:0060997)3.38823655
53long-term memory (GO:0007616)3.38502372
54neuromuscular process controlling posture (GO:0050884)3.33466925
55regulation of ARF protein signal transduction (GO:0032012)3.31577640
56long-term synaptic potentiation (GO:0060291)3.30500870
57cellular potassium ion homeostasis (GO:0030007)3.30128743
58amino acid import (GO:0043090)3.27905667
59regulation of excitatory postsynaptic membrane potential (GO:0060079)3.27015359
60potassium ion homeostasis (GO:0055075)3.26633677
61positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.25755488
62postsynaptic membrane organization (GO:0001941)3.23294764
63establishment of synaptic vesicle localization (GO:0097480)3.23009427
64synaptic vesicle transport (GO:0048489)3.23009427
65neuronal ion channel clustering (GO:0045161)3.22396463
66auditory behavior (GO:0031223)3.22132610
67regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.21563876
68response to auditory stimulus (GO:0010996)3.21266084
69regulation of postsynaptic membrane potential (GO:0060078)3.17138158
70regulation of synaptic transmission, glutamatergic (GO:0051966)3.16013970
71regulation of dendritic spine development (GO:0060998)3.15085106
72neuromuscular synaptic transmission (GO:0007274)3.14285726
73adult walking behavior (GO:0007628)3.14177428
74regulation of synaptic plasticity (GO:0048167)3.13734208
75regulation of synapse structural plasticity (GO:0051823)3.13434643
76positive regulation of synaptic transmission, GABAergic (GO:0032230)3.12799872
77regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.12042209
78synaptic vesicle endocytosis (GO:0048488)3.11135685
79positive regulation of membrane potential (GO:0045838)3.10862472
80regulation of neurotransmitter levels (GO:0001505)3.09973532
81negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.09461238
82regulation of vesicle fusion (GO:0031338)3.09155654
83cerebellar Purkinje cell differentiation (GO:0021702)3.08432594
84mechanosensory behavior (GO:0007638)3.06667105
85mating behavior (GO:0007617)3.06453560
86positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.06376190
87proline transport (GO:0015824)3.05506547
88regulation of neurotransmitter secretion (GO:0046928)3.03334582
89positive regulation of synapse assembly (GO:0051965)3.02051334
90membrane hyperpolarization (GO:0060081)2.99541277
91G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.97832306
92negative regulation of neurotransmitter transport (GO:0051589)2.96666154
93positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.96053981
94cell communication by electrical coupling (GO:0010644)2.95023042
95cellular sodium ion homeostasis (GO:0006883)2.94894300
96L-amino acid import (GO:0043092)2.93954891
97regulation of neurotransmitter transport (GO:0051588)2.93823300
98intraspecies interaction between organisms (GO:0051703)2.92773487
99social behavior (GO:0035176)2.92773487
100regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.92152577
101regulation of calcium ion-dependent exocytosis (GO:0017158)2.91972378
102neuromuscular process (GO:0050905)2.88411588
103neurotransmitter uptake (GO:0001504)2.88400981
104behavioral response to cocaine (GO:0048148)2.87428931
105regulation of synaptic transmission, GABAergic (GO:0032228)2.86301730
106synapse assembly (GO:0007416)2.85438419
107startle response (GO:0001964)2.85378853
108sodium ion export (GO:0071436)2.84897844
109membrane depolarization (GO:0051899)2.84698921
110cerebellar granule cell differentiation (GO:0021707)2.84159863
111glycine transport (GO:0015816)2.83321526
112learning (GO:0007612)2.83206302
113calcium ion-dependent exocytosis (GO:0017156)2.82221874
114regulation of glutamate secretion (GO:0014048)2.81841506
115regulation of dendritic spine morphogenesis (GO:0061001)2.80897532
116membrane depolarization during action potential (GO:0086010)2.80820941
117regulation of synaptic transmission (GO:0050804)2.80298885
118regulation of respiratory system process (GO:0044065)2.79579286
119synaptic transmission (GO:0007268)2.78067921
120positive regulation of synaptic transmission (GO:0050806)2.77638189
121energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)2.76307262
122ATP hydrolysis coupled proton transport (GO:0015991)2.76307262
123long-chain fatty acid biosynthetic process (GO:0042759)2.75611322
124activation of protein kinase A activity (GO:0034199)2.72592159
125cell migration in hindbrain (GO:0021535)2.71226138

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.88751905
2GBX2_23144817_ChIP-Seq_PC3_Human3.65333915
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.15341782
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.07659709
5JARID2_20064375_ChIP-Seq_MESCs_Mouse3.01738545
6EZH2_18974828_ChIP-Seq_MESCs_Mouse2.63848117
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.63848117
8EZH2_27304074_Chip-Seq_ESCs_Mouse2.63096711
9REST_21632747_ChIP-Seq_MESCs_Mouse2.63094699
10JARID2_20075857_ChIP-Seq_MESCs_Mouse2.62013998
11SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.59740910
12SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.58858821
13SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.55258070
14* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.48704638
15* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.46761679
16EED_16625203_ChIP-ChIP_MESCs_Mouse2.41425237
17SUZ12_27294783_Chip-Seq_ESCs_Mouse2.33647471
18EZH2_27294783_Chip-Seq_ESCs_Mouse2.28092114
19TAF15_26573619_Chip-Seq_HEK293_Human2.23096280
20RNF2_27304074_Chip-Seq_ESCs_Mouse2.17809646
21RARB_27405468_Chip-Seq_BRAIN_Mouse2.17386167
22THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.14361299
23NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.12408207
24REST_18959480_ChIP-ChIP_MESCs_Mouse2.12055949
25DROSHA_22980978_ChIP-Seq_HELA_Human2.10096905
26CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.98329720
27CTBP2_25329375_ChIP-Seq_LNCAP_Human1.95463572
28AR_21572438_ChIP-Seq_LNCaP_Human1.90969189
29GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.89481847
30IKZF1_21737484_ChIP-ChIP_HCT116_Human1.89159763
31RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.84573061
32CTBP1_25329375_ChIP-Seq_LNCAP_Human1.82089855
33ZFP57_27257070_Chip-Seq_ESCs_Mouse1.76816585
34ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.74741783
35CBX2_27304074_Chip-Seq_ESCs_Mouse1.66284235
36MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.64925509
37TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.63921301
38BMI1_23680149_ChIP-Seq_NPCS_Mouse1.61729402
39* CTCF_27219007_Chip-Seq_Bcells_Human1.61014638
40TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.59697973
41PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.58091506
42SMAD4_21799915_ChIP-Seq_A2780_Human1.57428798
43P300_19829295_ChIP-Seq_ESCs_Human1.51797334
44GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.49644169
45KDM2B_26808549_Chip-Seq_K562_Human1.46672550
46PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.44855596
47* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.43553770
48EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.43328886
49SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.43040453
50RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.42161428
51SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.41168585
52IGF1R_20145208_ChIP-Seq_DFB_Human1.37899328
53ERG_21242973_ChIP-ChIP_JURKAT_Human1.36226049
54SMAD3_21741376_ChIP-Seq_EPCs_Human1.35898162
55OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.34710805
56LXR_22292898_ChIP-Seq_THP-1_Human1.34435886
57RNF2_27304074_Chip-Seq_NSC_Mouse1.32137926
58SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.29387260
59RING1B_27294783_Chip-Seq_ESCs_Mouse1.27943813
60SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.26629221
61ZNF274_21170338_ChIP-Seq_K562_Hela1.25794766
62PIAS1_25552417_ChIP-Seq_VCAP_Human1.25167967
63NR3C1_23031785_ChIP-Seq_PC12_Mouse1.24960092
64VDR_22108803_ChIP-Seq_LS180_Human1.23904635
65TOP2B_26459242_ChIP-Seq_MCF-7_Human1.23696737
66POU3F2_20337985_ChIP-ChIP_501MEL_Human1.20780552
67EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.20599210
68SOX2_21211035_ChIP-Seq_LN229_Gbm1.18916056
69AR_25329375_ChIP-Seq_VCAP_Human1.18442242
70* TET1_21490601_ChIP-Seq_MESCs_Mouse1.16221232
71OCT4_19829295_ChIP-Seq_ESCs_Human1.14398237
72SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.14208177
73STAT3_23295773_ChIP-Seq_U87_Human1.14083186
74TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.11302589
75SMC4_20622854_ChIP-Seq_HELA_Human1.11218505
76RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.10759096
77* P68_20966046_ChIP-Seq_HELA_Human1.10004481
78ER_23166858_ChIP-Seq_MCF-7_Human1.08272032
79UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.07339918
80MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.06974620
81P53_22127205_ChIP-Seq_FIBROBLAST_Human1.06426668
82KDM2B_26808549_Chip-Seq_SUP-B15_Human1.06424527
83* ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.05524800
84* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.04421211
85PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.04386647
86TP53_20018659_ChIP-ChIP_R1E_Mouse1.04217028
87* ZFP281_27345836_Chip-Seq_ESCs_Mouse1.03631702
88TCF4_23295773_ChIP-Seq_U87_Human1.03505612
89TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.03206194
90FUS_26573619_Chip-Seq_HEK293_Human1.02146025
91GATA1_26923725_Chip-Seq_HPCs_Mouse1.01903392
92CDX2_19796622_ChIP-Seq_MESCs_Mouse1.00721747
93RUNX2_22187159_ChIP-Seq_PCA_Human1.00250823
94GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.99968271
95ARNT_22903824_ChIP-Seq_MCF-7_Human0.99503393
96AR_19668381_ChIP-Seq_PC3_Human0.99494885
97RING1B_27294783_Chip-Seq_NPCs_Mouse0.98584730
98WT1_25993318_ChIP-Seq_PODOCYTE_Human0.97194318
99NR3C1_21868756_ChIP-Seq_MCF10A_Human0.96880000
100PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.96803757
101* DNAJC2_21179169_ChIP-ChIP_NT2_Human0.95759897
102TET1_21451524_ChIP-Seq_MESCs_Mouse0.95509533
103TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.94520143
104PRDM14_20953172_ChIP-Seq_ESCs_Human0.93799769
105NANOG_18555785_Chip-Seq_ESCs_Mouse0.93564949
106KLF4_19829295_ChIP-Seq_ESCs_Human0.93390567
107SMAD3_21741376_ChIP-Seq_ESCs_Human0.93288079
108AHR_22903824_ChIP-Seq_MCF-7_Human0.90998772
109CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.90136225
110AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.89554031
111JUN_21703547_ChIP-Seq_K562_Human0.88969152
112TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.88852026
113CTCF_20526341_ChIP-Seq_ESCs_Human0.88443003
114SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.87877896
115TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.87123478
116POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.87123478
117VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.86053956
118SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.85987591
119YAP1_20516196_ChIP-Seq_MESCs_Mouse0.84731417
120MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.84552674
121TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.84524344
122CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.83322676
123SRY_22984422_ChIP-ChIP_TESTIS_Rat0.83307718
124SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.81880136
125OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.81695323
126SMAD_19615063_ChIP-ChIP_OVARY_Human0.81683162
127SA1_27219007_Chip-Seq_Bcells_Human0.81308206
128KDM2B_26808549_Chip-Seq_REH_Human0.80826369
129CREB1_26743006_Chip-Seq_LNCaP_Human0.80756407
130SMAD4_21741376_ChIP-Seq_HESCs_Human0.80144329
131SOX9_26525672_Chip-Seq_HEART_Mouse0.79800942
132NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.79640270
133EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.79621623
134CMYC_18555785_Chip-Seq_ESCs_Mouse0.79457751
135* SA1_27219007_Chip-Seq_ERYTHROID_Human0.79411634
136EGR1_19032775_ChIP-ChIP_M12_Human0.78184753
137ELF1_20517297_ChIP-Seq_JURKAT_Human0.77249242
138DPY_21335234_ChIP-Seq_ESCs_Mouse0.76585985
139KDM2B_26808549_Chip-Seq_DND41_Human0.73668363
140WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.73155268
141SMAD4_21741376_ChIP-Seq_ESCs_Human0.72945392
142OCT4_20526341_ChIP-Seq_ESCs_Human0.69847358
143* BCL6_27268052_Chip-Seq_Bcells_Human0.69825780

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.06228622
2MP0003880_abnormal_central_pattern5.03944980
3MP0003635_abnormal_synaptic_transmissio3.64456536
4MP0004270_analgesia3.33498117
5MP0009745_abnormal_behavioral_response3.17670763
6MP0002064_seizures3.08122540
7MP0009046_muscle_twitch3.08008382
8MP0002063_abnormal_learning/memory/cond2.94251486
9MP0005423_abnormal_somatic_nervous2.76645444
10MP0001968_abnormal_touch/_nociception2.74636853
11MP0002272_abnormal_nervous_system2.71111226
12MP0002572_abnormal_emotion/affect_behav2.66576912
13MP0001486_abnormal_startle_reflex2.61245915
14MP0002734_abnormal_mechanical_nocicepti2.44093150
15MP0001529_abnormal_vocalization2.39489971
16MP0002822_catalepsy2.38006546
17MP0002736_abnormal_nociception_after2.32957615
18MP0001440_abnormal_grooming_behavior2.26788674
19MP0001501_abnormal_sleep_pattern2.25393140
20MP0006276_abnormal_autonomic_nervous2.21513051
21MP0002735_abnormal_chemical_nociception2.14406939
22MP0002733_abnormal_thermal_nociception1.99847094
23MP0000778_abnormal_nervous_system1.99551698
24MP0003329_amyloid_beta_deposits1.98267330
25MP0002067_abnormal_sensory_capabilities1.97658900
26MP0001970_abnormal_pain_threshold1.96904211
27MP0005646_abnormal_pituitary_gland1.89246145
28MP0001905_abnormal_dopamine_level1.78959534
29MP0008569_lethality_at_weaning1.75937007
30MP0004924_abnormal_behavior1.74364542
31MP0005386_behavior/neurological_phenoty1.74364542
32MP0005645_abnormal_hypothalamus_physiol1.73547608
33MP0004142_abnormal_muscle_tone1.72876116
34MP0002557_abnormal_social/conspecific_i1.72263399
35MP0002184_abnormal_innervation1.69376761
36MP0009780_abnormal_chondrocyte_physiolo1.60798288
37MP0003122_maternal_imprinting1.58808866
38MP0000955_abnormal_spinal_cord1.56666333
39MP0001984_abnormal_olfaction1.53620411
40MP0004885_abnormal_endolymph1.50564025
41MP0004811_abnormal_neuron_physiology1.49726879
42MP0002882_abnormal_neuron_morphology1.46245595
43MP0001502_abnormal_circadian_rhythm1.43810721
44MP0004858_abnormal_nervous_system1.42665309
45MP0002066_abnormal_motor_capabilities/c1.42449946
46MP0002909_abnormal_adrenal_gland1.40195884
47MP0000920_abnormal_myelination1.39567799
48MP0003123_paternal_imprinting1.38443358
49MP0004742_abnormal_vestibular_system1.32879997
50MP0003879_abnormal_hair_cell1.25438543
51MP0003633_abnormal_nervous_system1.24205164
52MP0002229_neurodegeneration1.16601969
53MP0003631_nervous_system_phenotype1.16405225
54MP0003690_abnormal_glial_cell1.13907552
55MP0003634_abnormal_glial_cell1.13888034
56MP0003787_abnormal_imprinting1.10447562
57MP0005551_abnormal_eye_electrophysiolog1.09576762
58MP0001188_hyperpigmentation1.07528875
59MP0002152_abnormal_brain_morphology1.07395856
60MP0005410_abnormal_fertilization1.06813811
61MP0004043_abnormal_pH_regulation1.05696923
62MP0001963_abnormal_hearing_physiology1.03745791
63MP0004145_abnormal_muscle_electrophysio1.03276873
64MP0002837_dystrophic_cardiac_calcinosis1.02599572
65MP0001485_abnormal_pinna_reflex1.02339017
66MP0000751_myopathy1.01546417
67MP0002638_abnormal_pupillary_reflex1.00196109
68MP0003632_abnormal_nervous_system0.97429120
69MP0000631_abnormal_neuroendocrine_gland0.95892777
70MP0002752_abnormal_somatic_nervous0.95072427
71MP0010386_abnormal_urinary_bladder0.94476061
72MP0000013_abnormal_adipose_tissue0.93077553
73MP0002069_abnormal_eating/drinking_beha0.92647160
74MP0008872_abnormal_physiological_respon0.90225305
75MP0005171_absent_coat_pigmentation0.89934700
76MP0001664_abnormal_digestion0.86204948
77MP0002653_abnormal_ependyma_morphology0.84645997
78MP0003172_abnormal_lysosome_physiology0.84302998
79MP0005535_abnormal_body_temperature0.83502185
80MP0004085_abnormal_heartbeat0.83176852
81MP0005167_abnormal_blood-brain_barrier0.82533006
82MP0001348_abnormal_lacrimal_gland0.80594488
83MP0008877_abnormal_DNA_methylation0.79829800
84MP0000604_amyloidosis0.79597095
85MP0006072_abnormal_retinal_apoptosis0.79419379
86MP0005409_darkened_coat_color0.79279075
87MP0000026_abnormal_inner_ear0.77552333
88MP0003121_genomic_imprinting0.77453716
89MP0002249_abnormal_larynx_morphology0.77216846
90MP0004130_abnormal_muscle_cell0.76867986
91MP0002234_abnormal_pharynx_morphology0.75907343
92MP0003137_abnormal_impulse_conducting0.75280735
93MP0001299_abnormal_eye_distance/0.74805065
94MP0003183_abnormal_peptide_metabolism0.74469983
95MP0005394_taste/olfaction_phenotype0.74183745
96MP0005499_abnormal_olfactory_system0.74183745
97MP0005623_abnormal_meninges_morphology0.74154646
98MP0003136_yellow_coat_color0.72956252
99MP0002876_abnormal_thyroid_physiology0.72189080
100MP0004133_heterotaxia0.70339511
101MP0001177_atelectasis0.70184681
102MP0001346_abnormal_lacrimal_gland0.69465079
103MP0003938_abnormal_ear_development0.66405560
104MP0002090_abnormal_vision0.66150760
105MP0001943_abnormal_respiration0.64484708
106MP0004215_abnormal_myocardial_fiber0.63638126
107MP0008874_decreased_physiological_sensi0.63528733
108MP0005253_abnormal_eye_physiology0.61571194
109MP0001986_abnormal_taste_sensitivity0.61138686
110MP0004147_increased_porphyrin_level0.58926077
111MP0003283_abnormal_digestive_organ0.56621345
112MP0005377_hearing/vestibular/ear_phenot0.53393082
113MP0003878_abnormal_ear_physiology0.53393082
114MP0003075_altered_response_to0.53195090
115MP0003861_abnormal_nervous_system0.53150136
116MP0005379_endocrine/exocrine_gland_phen0.52248140
117MP0010769_abnormal_survival0.51027388
118MP0002751_abnormal_autonomic_nervous0.50465358
119MP0000639_abnormal_adrenal_gland0.49546356
120MP0000566_synostosis0.49095912

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)6.67763192
2Myokymia (HP:0002411)6.03712661
3Focal seizures (HP:0007359)4.75551786
4Epileptic encephalopathy (HP:0200134)4.59901721
5Atonic seizures (HP:0010819)4.31734575
6Febrile seizures (HP:0002373)3.89998209
7Visual hallucinations (HP:0002367)3.89159779
8Progressive cerebellar ataxia (HP:0002073)3.64633166
9Annular pancreas (HP:0001734)3.58354246
10Absence seizures (HP:0002121)3.50006764
11Supranuclear gaze palsy (HP:0000605)3.44983317
12Generalized tonic-clonic seizures (HP:0002069)3.39346238
13Neurofibrillary tangles (HP:0002185)3.35821827
14Pheochromocytoma (HP:0002666)3.31685483
15Dialeptic seizures (HP:0011146)3.26566148
16Ankle clonus (HP:0011448)3.24098764
17Abnormal eating behavior (HP:0100738)3.21924767
18Papilledema (HP:0001085)3.19929364
19Broad-based gait (HP:0002136)3.16485749
20Hyperventilation (HP:0002883)3.14630424
21Limb dystonia (HP:0002451)3.11488768
22Obstructive sleep apnea (HP:0002870)3.09726762
23Neuroendocrine neoplasm (HP:0100634)2.99347895
24Action tremor (HP:0002345)2.95766983
25Cerebral hypomyelination (HP:0006808)2.93928116
26Anxiety (HP:0000739)2.92504117
27Cerebral inclusion bodies (HP:0100314)2.89772017
28Dysmetria (HP:0001310)2.87192500
29Truncal ataxia (HP:0002078)2.84865905
30Degeneration of the lateral corticospinal tracts (HP:0002314)2.79399943
31Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.79399943
32Spastic gait (HP:0002064)2.79040933
33Polyphagia (HP:0002591)2.78611516
34Impaired vibration sensation in the lower limbs (HP:0002166)2.67766344
35Dysdiadochokinesis (HP:0002075)2.66966884
36Hemiparesis (HP:0001269)2.65685199
37Abnormality of the corticospinal tract (HP:0002492)2.64581224
38Akinesia (HP:0002304)2.61901483
39Tetraplegia (HP:0002445)2.61873307
40Megalencephaly (HP:0001355)2.56854883
41Gaze-evoked nystagmus (HP:0000640)2.54699406
42Depression (HP:0000716)2.54377651
43Amblyopia (HP:0000646)2.46890222
44Diplopia (HP:0000651)2.45709274
45Abnormality of binocular vision (HP:0011514)2.45709274
46Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.45621554
47Progressive inability to walk (HP:0002505)2.45123069
48Impaired smooth pursuit (HP:0007772)2.43740022
49Termporal pattern (HP:0011008)2.41329476
50Insidious onset (HP:0003587)2.41329476
51Poor eye contact (HP:0000817)2.40202983
52Urinary urgency (HP:0000012)2.39847558
53Clonus (HP:0002169)2.39761354
54Epileptiform EEG discharges (HP:0011182)2.38207910
55Peripheral hypomyelination (HP:0007182)2.38080021
56Scanning speech (HP:0002168)2.37946009
57Gait imbalance (HP:0002141)2.37907872
58Acute necrotizing encephalopathy (HP:0006965)2.36326331
59Urinary bladder sphincter dysfunction (HP:0002839)2.34466842
60Stereotypic behavior (HP:0000733)2.33827172
61Genetic anticipation (HP:0003743)2.33328586
62EEG with generalized epileptiform discharges (HP:0011198)2.30620971
63Failure to thrive in infancy (HP:0001531)2.24339143
64Absent/shortened dynein arms (HP:0200106)2.21699998
65Dynein arm defect of respiratory motile cilia (HP:0012255)2.21699998
66Excessive salivation (HP:0003781)2.20827215
67Drooling (HP:0002307)2.20827215
68Abnormal mitochondria in muscle tissue (HP:0008316)2.20441935
69Abnormal hair whorl (HP:0010721)2.20381267
70Hypsarrhythmia (HP:0002521)2.20166310
71Postural instability (HP:0002172)2.19231877
72Lower limb muscle weakness (HP:0007340)2.17385203
73Aplasia involving bones of the upper limbs (HP:0009823)2.15952113
74Aplasia of the phalanges of the hand (HP:0009802)2.15952113
75Aplasia involving bones of the extremities (HP:0009825)2.15952113
76Intention tremor (HP:0002080)2.15777862
77Abnormal EKG (HP:0003115)2.14597254
78Impaired social interactions (HP:0000735)2.13513890
79Abnormal social behavior (HP:0012433)2.13513890
80Prolonged QT interval (HP:0001657)2.13247133
81Specific learning disability (HP:0001328)2.12665277
82Congenital primary aphakia (HP:0007707)2.08310783
83Morphological abnormality of the pyramidal tract (HP:0002062)2.08272550
84Progressive macrocephaly (HP:0004481)2.07597854
85Medial flaring of the eyebrow (HP:0010747)2.07586497
86Congenital malformation of the right heart (HP:0011723)2.07536306
87Double outlet right ventricle (HP:0001719)2.07536306
88Abnormality of the lower motor neuron (HP:0002366)2.07302514
89Esotropia (HP:0000565)2.06835007
90Abnormality of ocular smooth pursuit (HP:0000617)2.05153217
91Spastic tetraparesis (HP:0001285)2.04823080
92CNS hypomyelination (HP:0003429)2.04287969
93Retinal dysplasia (HP:0007973)2.04187497
94Torticollis (HP:0000473)2.03967913
95Choreoathetosis (HP:0001266)2.01196619
96Delusions (HP:0000746)1.99197265
97Genital tract atresia (HP:0001827)1.99187446
98Vaginal atresia (HP:0000148)1.99105838
99Bradykinesia (HP:0002067)1.98360871
100Nephrogenic diabetes insipidus (HP:0009806)1.97795570
101Focal dystonia (HP:0004373)1.97598436
102Sleep apnea (HP:0010535)1.96573586
103Ventricular fibrillation (HP:0001663)1.96280450
104Abnormal ciliary motility (HP:0012262)1.96278520
105Poor suck (HP:0002033)1.95188778
106Bronchomalacia (HP:0002780)1.94974362
107Truncus arteriosus (HP:0001660)1.94875463
108Blue irides (HP:0000635)1.93664375
109Absent speech (HP:0001344)1.91390335
110Hemiplegia (HP:0002301)1.91333736
111Leukodystrophy (HP:0002415)1.91068305
112Impaired vibratory sensation (HP:0002495)1.90171164
113Mutism (HP:0002300)1.90076189
114Spastic tetraplegia (HP:0002510)1.87738094
115Gait ataxia (HP:0002066)1.86108232
116Agitation (HP:0000713)1.86068072
117Psychosis (HP:0000709)1.85741758
118Inability to walk (HP:0002540)1.85652931
119Iris hypopigmentation (HP:0007730)1.85187466
120Spinal canal stenosis (HP:0003416)1.85102438
121Hyperthyroidism (HP:0000836)1.85020022
122Generalized myoclonic seizures (HP:0002123)1.84964887
123Fetal akinesia sequence (HP:0001989)1.84378031
124Abnormal respiratory motile cilium physiology (HP:0012261)1.81399010
125Neuronal loss in central nervous system (HP:0002529)1.79060616
126Sensory axonal neuropathy (HP:0003390)1.78638693
127Rapidly progressive (HP:0003678)1.78077402
128Intellectual disability, severe (HP:0010864)1.77731418
129Rigidity (HP:0002063)1.77697700
130Ocular albinism (HP:0001107)1.76086487
131Status epilepticus (HP:0002133)1.76033393
132Craniofacial dystonia (HP:0012179)1.75284488
133Incomplete penetrance (HP:0003829)1.71698439
134Abnormality of the aortic arch (HP:0012303)1.71396105
135Increased circulating renin level (HP:0000848)1.69445940
136Apathy (HP:0000741)1.68044372
137Split foot (HP:0001839)1.67971923

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK33.78354696
2EPHA43.58838286
3CASK3.25746560
4MAP3K92.95272745
5MAP3K42.85059522
6MAP2K72.51252935
7MARK12.46718247
8MINK12.38458464
9NTRK22.36108176
10MAP3K122.33183282
11PNCK1.99921294
12PRKD31.98076040
13CDK191.92695153
14OXSR11.90108191
15NTRK11.81858446
16PAK61.70142085
17DAPK21.70029244
18MAPK131.64039481
19MAP2K41.61753225
20STK391.60223277
21UHMK11.58913561
22TNIK1.58327976
23ARAF1.56043470
24CDK51.48429666
25MAP3K111.47154533
26KSR21.43330024
27SGK4941.38182718
28SGK2231.38182718
29GRK51.36109871
30RIPK41.33162127
31PLK21.32585958
32PHKG21.31453318
33PHKG11.31453318
34PRPF4B1.29927446
35KSR11.28899285
36MUSK1.28251617
37PRKCG1.18253882
38BCR1.16882293
39CAMK2B1.14030649
40CAMK2A1.13421550
41FRK1.03857322
42LMTK21.03203958
43MAPKAPK51.03154598
44NME11.01412780
45MAP3K130.98462291
46DAPK10.97514245
47CDK180.96373063
48TYRO30.95027009
49MAPK120.93951138
50CAMKK10.93446914
51CDK140.91940586
52CDK150.91461917
53FES0.90567571
54SIK30.89123267
55CSNK1G20.87922908
56WNK40.87916833
57PKN10.85087213
58PAK30.84596733
59SIK20.82128253
60PRKCE0.80994565
61CAMK2D0.79644378
62ROCK20.79480662
63WNK10.79462690
64CDK11A0.79104459
65DYRK20.74085190
66PTK2B0.72595851
67STK380.71342347
68GRK70.71219306
69MAP2K60.70794159
70CAMK2G0.68674607
71PINK10.68559136
72BMPR20.68131744
73NEK60.68056175
74CAMKK20.67654296
75FGR0.67420324
76SGK20.67358681
77LIMK10.66279326
78PRKCH0.65796560
79STK110.65477651
80CAMK10.64639609
81DYRK1A0.62500484
82WNK30.62454907
83RIPK10.62139328
84CSNK1G30.61416358
85FGFR20.60565545
86BRSK10.59393640
87MARK20.59118491
88TNK20.56604028
89SGK10.56560059
90MAP3K20.56346319
91CAMK40.56215318
92LATS20.54493064
93CDC42BPA0.51045501
94PRKCZ0.49928394
95PDK40.49573975
96PDK30.49573975
97IRAK20.49435633
98ALK0.47130794
99RET0.47112763
100BMPR1B0.46896525
101INSRR0.46464604
102PDPK10.46218172
103DAPK30.45722174
104BRAF0.43742837
105ADRBK20.43574587
106PRKACA0.42521495
107ADRBK10.42114849
108SGK30.41464725
109CSNK1A1L0.41357005
110FYN0.40982531
111RPS6KA30.40411114
112MAPK100.39968667
113PDK10.39342543
114PRKG20.36955480
115PRKCA0.35835726
116MAPK80.34763771
117PRKD20.34169533
118CSNK1A10.33222905
119ICK0.31669933
120ERBB20.31493029
121MAP3K70.30135061
122MAPK40.29800845
123MAP3K10.29530580
124TRIB30.27711187

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.78461741
2Synaptic vesicle cycle_Homo sapiens_hsa047213.48702757
3GABAergic synapse_Homo sapiens_hsa047272.69042486
4Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.62084439
5Circadian entrainment_Homo sapiens_hsa047132.46779172
6Glutamatergic synapse_Homo sapiens_hsa047242.45461677
7Collecting duct acid secretion_Homo sapiens_hsa049662.44570620
8Morphine addiction_Homo sapiens_hsa050322.40031501
9Olfactory transduction_Homo sapiens_hsa047402.37830491
10Amphetamine addiction_Homo sapiens_hsa050312.36486685
11Long-term potentiation_Homo sapiens_hsa047202.23228769
12Dopaminergic synapse_Homo sapiens_hsa047282.06956169
13Oxidative phosphorylation_Homo sapiens_hsa001902.04649640
14Salivary secretion_Homo sapiens_hsa049702.01814860
15Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.97018717
16Insulin secretion_Homo sapiens_hsa049111.94767315
17Cocaine addiction_Homo sapiens_hsa050301.92972588
18Taste transduction_Homo sapiens_hsa047421.90015450
19Gastric acid secretion_Homo sapiens_hsa049711.84306390
20Serotonergic synapse_Homo sapiens_hsa047261.79737560
21Cholinergic synapse_Homo sapiens_hsa047251.65708091
22Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.64475837
23Vibrio cholerae infection_Homo sapiens_hsa051101.63456306
24Long-term depression_Homo sapiens_hsa047301.63131396
25Parkinsons disease_Homo sapiens_hsa050121.62033945
26Renin secretion_Homo sapiens_hsa049241.59257740
27Cardiac muscle contraction_Homo sapiens_hsa042601.54589559
28Alzheimers disease_Homo sapiens_hsa050101.49549262
29Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.48430203
30Calcium signaling pathway_Homo sapiens_hsa040201.45833473
31Aldosterone synthesis and secretion_Homo sapiens_hsa049251.42699151
32Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.33215700
33Oxytocin signaling pathway_Homo sapiens_hsa049211.32319495
34Gap junction_Homo sapiens_hsa045401.28492968
35Axon guidance_Homo sapiens_hsa043601.24968433
36Vitamin B6 metabolism_Homo sapiens_hsa007501.20447577
37GnRH signaling pathway_Homo sapiens_hsa049121.12751564
38Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.12486150
39Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.12330003
40Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.11858738
41cAMP signaling pathway_Homo sapiens_hsa040241.09781789
42Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.09254474
43Huntingtons disease_Homo sapiens_hsa050161.02394776
44Phototransduction_Homo sapiens_hsa047441.00771864
45Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.98178618
46Cyanoamino acid metabolism_Homo sapiens_hsa004600.94676917
47Phosphatidylinositol signaling system_Homo sapiens_hsa040700.92037324
48Melanogenesis_Homo sapiens_hsa049160.89220043
49Estrogen signaling pathway_Homo sapiens_hsa049150.86718941
50Vascular smooth muscle contraction_Homo sapiens_hsa042700.85486397
51Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.85131208
52cGMP-PKG signaling pathway_Homo sapiens_hsa040220.83625387
53ErbB signaling pathway_Homo sapiens_hsa040120.81119771
54Pancreatic secretion_Homo sapiens_hsa049720.79850501
55Type II diabetes mellitus_Homo sapiens_hsa049300.79200265
56VEGF signaling pathway_Homo sapiens_hsa043700.74905449
57Bile secretion_Homo sapiens_hsa049760.72995042
58Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.71680552
59Dorso-ventral axis formation_Homo sapiens_hsa043200.70085524
60Thyroid hormone synthesis_Homo sapiens_hsa049180.69529801
61Fatty acid elongation_Homo sapiens_hsa000620.67988106
62Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.67028170
63Glioma_Homo sapiens_hsa052140.66628162
64Neurotrophin signaling pathway_Homo sapiens_hsa047220.65364943
65Phospholipase D signaling pathway_Homo sapiens_hsa040720.64231512
66Rheumatoid arthritis_Homo sapiens_hsa053230.63526700
67Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.62835598
68Sulfur relay system_Homo sapiens_hsa041220.59548028
69SNARE interactions in vesicular transport_Homo sapiens_hsa041300.59362790
70Type I diabetes mellitus_Homo sapiens_hsa049400.58422156
71Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.57851185
72Alcoholism_Homo sapiens_hsa050340.57251637
73Oocyte meiosis_Homo sapiens_hsa041140.55666644
74Dilated cardiomyopathy_Homo sapiens_hsa054140.55149061
75MAPK signaling pathway_Homo sapiens_hsa040100.55018310
76Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.54897573
77Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.54254518
78Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.53604925
79Ether lipid metabolism_Homo sapiens_hsa005650.52901366
80Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.52867061
81Ras signaling pathway_Homo sapiens_hsa040140.51994166
82Choline metabolism in cancer_Homo sapiens_hsa052310.51333155
83Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.49760252
84Sphingolipid signaling pathway_Homo sapiens_hsa040710.48128663
85Circadian rhythm_Homo sapiens_hsa047100.47701191
86Fatty acid biosynthesis_Homo sapiens_hsa000610.47333259
87Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.47235647
88ABC transporters_Homo sapiens_hsa020100.45919081
89Nitrogen metabolism_Homo sapiens_hsa009100.45759177
90Arginine and proline metabolism_Homo sapiens_hsa003300.45669281
91Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.45430455
92Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.43213146
93Glucagon signaling pathway_Homo sapiens_hsa049220.42961434
94Inositol phosphate metabolism_Homo sapiens_hsa005620.42782197
95Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.42105426
96Prion diseases_Homo sapiens_hsa050200.40081405
97Carbohydrate digestion and absorption_Homo sapiens_hsa049730.39485311
98Endocytosis_Homo sapiens_hsa041440.36923448
99Regulation of autophagy_Homo sapiens_hsa041400.36861667
100Phagosome_Homo sapiens_hsa041450.36718630
101Butanoate metabolism_Homo sapiens_hsa006500.36164408
102Glycerophospholipid metabolism_Homo sapiens_hsa005640.35807813
103Renal cell carcinoma_Homo sapiens_hsa052110.35801750
104mTOR signaling pathway_Homo sapiens_hsa041500.35479613
105Rap1 signaling pathway_Homo sapiens_hsa040150.34998351
106Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.34831756
107Thyroid hormone signaling pathway_Homo sapiens_hsa049190.34167203
108Wnt signaling pathway_Homo sapiens_hsa043100.33618969
109Ovarian steroidogenesis_Homo sapiens_hsa049130.31557064
110Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.31122860
111Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.29331988
112Histidine metabolism_Homo sapiens_hsa003400.29134344
113Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.28674482
114Caffeine metabolism_Homo sapiens_hsa002320.28629047
115Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.26516263
116Longevity regulating pathway - mammal_Homo sapiens_hsa042110.25111223
117Linoleic acid metabolism_Homo sapiens_hsa005910.22328969
118beta-Alanine metabolism_Homo sapiens_hsa004100.22050805

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