CELF3

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: Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Multiple alternatively spliced transcript variants encoding different isoforms have been identified in 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)6.29404827
2synaptic vesicle maturation (GO:0016188)6.11583681
3positive regulation of calcium ion-dependent exocytosis (GO:0045956)6.04011147
4pyrimidine nucleobase catabolic process (GO:0006208)5.75324551
5locomotory exploration behavior (GO:0035641)5.26542700
6positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.17797183
7synaptic vesicle exocytosis (GO:0016079)5.03478294
8synaptic vesicle docking involved in exocytosis (GO:0016081)4.97626355
9regulation of synaptic vesicle exocytosis (GO:2000300)4.90777618
10nucleobase catabolic process (GO:0046113)4.75074695
11regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.69500573
12vocalization behavior (GO:0071625)4.61903463
13layer formation in cerebral cortex (GO:0021819)4.58216468
14protein localization to synapse (GO:0035418)4.56519616
15glutamate secretion (GO:0014047)4.46465237
16regulation of glutamate receptor signaling pathway (GO:1900449)4.44468305
17regulation of synaptic vesicle transport (GO:1902803)4.30415819
18regulation of synapse structural plasticity (GO:0051823)4.24234980
19establishment of mitochondrion localization (GO:0051654)4.23021853
20regulation of neuronal synaptic plasticity (GO:0048168)4.14619886
21positive regulation of synapse maturation (GO:0090129)4.08113011
22presynaptic membrane organization (GO:0097090)4.05412581
23response to pheromone (GO:0019236)4.00983599
24neurotransmitter secretion (GO:0007269)4.00717908
25neuron cell-cell adhesion (GO:0007158)3.97666171
26exploration behavior (GO:0035640)3.97182467
27dendritic spine morphogenesis (GO:0060997)3.93906669
28cellular potassium ion homeostasis (GO:0030007)3.93735001
29presynaptic membrane assembly (GO:0097105)3.91404897
30neurotransmitter-gated ion channel clustering (GO:0072578)3.89324858
31cerebellar granule cell differentiation (GO:0021707)3.84196475
32regulation of long-term neuronal synaptic plasticity (GO:0048169)3.83151683
33regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.81682842
34ionotropic glutamate receptor signaling pathway (GO:0035235)3.78193827
35regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.75014873
36neuromuscular synaptic transmission (GO:0007274)3.74538051
37mitochondrion transport along microtubule (GO:0047497)3.66334891
38establishment of mitochondrion localization, microtubule-mediated (GO:0034643)3.66334891
39synaptic transmission, glutamatergic (GO:0035249)3.65990356
40positive regulation of synaptic transmission, GABAergic (GO:0032230)3.62281204
41sodium ion export (GO:0071436)3.62253335
42positive regulation of membrane potential (GO:0045838)3.57014619
43innervation (GO:0060384)3.52484742
44positive regulation of dendritic spine morphogenesis (GO:0061003)3.51544626
45neuron recognition (GO:0008038)3.51162695
46cell communication by electrical coupling (GO:0010644)3.51078954
47membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.47745404
48dendrite morphogenesis (GO:0048813)3.46079516
49synaptic vesicle endocytosis (GO:0048488)3.45438385
50long-term memory (GO:0007616)3.44958238
51cerebellar Purkinje cell layer development (GO:0021680)3.43746122
52cerebellar Purkinje cell differentiation (GO:0021702)3.43380049
53glutamate receptor signaling pathway (GO:0007215)3.43299085
54cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.42822645
55neuron-neuron synaptic transmission (GO:0007270)3.39713170
56axonal fasciculation (GO:0007413)3.39514035
57activation of protein kinase A activity (GO:0034199)3.35997054
58positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.34561482
59negative regulation of cytosolic calcium ion concentration (GO:0051481)3.32575883
60proline transport (GO:0015824)3.30551488
61negative regulation of synaptic transmission, GABAergic (GO:0032229)3.28191108
62mechanosensory behavior (GO:0007638)3.26582033
63regulation of excitatory postsynaptic membrane potential (GO:0060079)3.26201515
64prepulse inhibition (GO:0060134)3.25513831
65regulation of ARF protein signal transduction (GO:0032012)3.25254209
66auditory behavior (GO:0031223)3.24824659
67regulation of neurotransmitter secretion (GO:0046928)3.21690784
68neuromuscular process controlling balance (GO:0050885)3.20939169
69regulation of dendritic spine morphogenesis (GO:0061001)3.20151080
70regulation of vesicle fusion (GO:0031338)3.20001126
71cell migration in hindbrain (GO:0021535)3.19589198
72regulation of postsynaptic membrane potential (GO:0060078)3.19544752
73positive regulation of synapse assembly (GO:0051965)3.18888375
74neurotransmitter transport (GO:0006836)3.17396159
75regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.16705012
76regulation of synaptic plasticity (GO:0048167)3.14895018
77regulation of calcium ion-dependent exocytosis (GO:0017158)3.13094769
78potassium ion homeostasis (GO:0055075)3.10922744
79response to auditory stimulus (GO:0010996)3.10912330
80behavioral response to nicotine (GO:0035095)3.10551914
81membrane depolarization during action potential (GO:0086010)3.09794526
82regulation of synapse maturation (GO:0090128)3.09125379
83gamma-aminobutyric acid transport (GO:0015812)3.08863320
84positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.07871679
85neuronal ion channel clustering (GO:0045161)3.07430928
86cell differentiation in hindbrain (GO:0021533)3.06726054
87positive regulation of neurotransmitter secretion (GO:0001956)3.06522805
88membrane hyperpolarization (GO:0060081)3.06375997
89regulation of synaptic transmission, glutamatergic (GO:0051966)3.05173160
90regulation of voltage-gated calcium channel activity (GO:1901385)3.02856011
91positive regulation of neurotransmitter transport (GO:0051590)3.02087646
92mating behavior (GO:0007617)2.99725337
93chemosensory behavior (GO:0007635)2.99035234
94regulation of respiratory system process (GO:0044065)2.98658899
95transmission of nerve impulse (GO:0019226)2.97959302
96adult walking behavior (GO:0007628)2.97638201
97regulation of neurotransmitter transport (GO:0051588)2.97481943
98positive regulation of dendritic spine development (GO:0060999)2.97225389
99G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.96890094
100neuronal action potential propagation (GO:0019227)2.96834904
101long-term synaptic potentiation (GO:0060291)2.95950469
102G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.95851740
103synapse organization (GO:0050808)2.93778049
104neurofilament cytoskeleton organization (GO:0060052)2.92763078
105dopamine receptor signaling pathway (GO:0007212)2.92342426
106regulation of dendritic spine development (GO:0060998)2.91961689
107membrane repolarization (GO:0086009)2.89772990
108central nervous system projection neuron axonogenesis (GO:0021952)2.89005429
109dendritic spine organization (GO:0097061)2.87785524
110synapse assembly (GO:0007416)2.86465973
111vesicle transport along microtubule (GO:0047496)2.85995515
112regulation of neurotransmitter levels (GO:0001505)2.85296161
113gamma-aminobutyric acid signaling pathway (GO:0007214)2.84581336
114postsynaptic membrane organization (GO:0001941)2.82902767
115membrane depolarization (GO:0051899)2.81571555
116regulation of synaptic transmission (GO:0050804)2.81511722
117striatum development (GO:0021756)2.80821522
118adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)2.80352881
119negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.77928067
120axon cargo transport (GO:0008088)2.77104487
121regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.75922968
122detection of calcium ion (GO:0005513)2.75397087

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.59448615
2GBX2_23144817_ChIP-Seq_PC3_Human2.96858111
3* REST_21632747_ChIP-Seq_MESCs_Mouse2.92788997
4SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.86840504
5* RARB_27405468_Chip-Seq_BRAIN_Mouse2.81546170
6JARID2_20064375_ChIP-Seq_MESCs_Mouse2.79386852
7SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.75077631
8DROSHA_22980978_ChIP-Seq_HELA_Human2.73872202
9JARID2_20075857_ChIP-Seq_MESCs_Mouse2.62927694
10EZH2_18974828_ChIP-Seq_MESCs_Mouse2.56662918
11RNF2_18974828_ChIP-Seq_MESCs_Mouse2.56662918
12EZH2_27304074_Chip-Seq_ESCs_Mouse2.55054767
13SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.53703675
14CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.47775302
15EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.45668516
16EZH2_27294783_Chip-Seq_ESCs_Mouse2.44098151
17REST_18959480_ChIP-ChIP_MESCs_Mouse2.41087689
18SUZ12_27294783_Chip-Seq_ESCs_Mouse2.40712914
19MTF2_20144788_ChIP-Seq_MESCs_Mouse2.40270498
20SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.35579924
21SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.28275230
22RNF2_27304074_Chip-Seq_ESCs_Mouse2.27140656
23SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.24045995
24NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.20628049
25ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.15858381
26EED_16625203_ChIP-ChIP_MESCs_Mouse2.07660824
27GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.98256555
28IKZF1_21737484_ChIP-ChIP_HCT116_Human1.93015056
29MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.90675272
30ERG_21242973_ChIP-ChIP_JURKAT_Human1.51340474
31SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.50430032
32TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.49584847
33AR_21572438_ChIP-Seq_LNCaP_Human1.48641565
34KDM2B_26808549_Chip-Seq_K562_Human1.47325486
35RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.46452587
36CTBP2_25329375_ChIP-Seq_LNCAP_Human1.44810291
37RING1B_27294783_Chip-Seq_ESCs_Mouse1.40900974
38THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.40433554
39ZNF274_21170338_ChIP-Seq_K562_Hela1.38772990
40ZFP281_18757296_ChIP-ChIP_E14_Mouse1.38581891
41SMAD4_21799915_ChIP-Seq_A2780_Human1.36031787
42DNAJC2_21179169_ChIP-ChIP_NT2_Human1.32960416
43PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.32059812
44WT1_25993318_ChIP-Seq_PODOCYTE_Human1.30036389
45RING1B_27294783_Chip-Seq_NPCs_Mouse1.28632623
46AR_19668381_ChIP-Seq_PC3_Human1.28391302
47EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.27949383
48TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.27553278
49PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.25734350
50CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.25071440
51SOX2_21211035_ChIP-Seq_LN229_Gbm1.24984344
52NR3C1_23031785_ChIP-Seq_PC12_Mouse1.23988941
53CTBP1_25329375_ChIP-Seq_LNCAP_Human1.23567125
54RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.21554413
55WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.21158075
56* OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.19137041
57TP53_20018659_ChIP-ChIP_R1E_Mouse1.18935579
58RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.17645655
59IGF1R_20145208_ChIP-Seq_DFB_Human1.17177570
60CBX2_27304074_Chip-Seq_ESCs_Mouse1.16635195
61P53_22127205_ChIP-Seq_FIBROBLAST_Human1.15977629
62STAT3_23295773_ChIP-Seq_U87_Human1.15117159
63DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.14445969
64EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.13082574
65SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.12796701
66GATA1_26923725_Chip-Seq_HPCs_Mouse1.11739498
67YAP1_20516196_ChIP-Seq_MESCs_Mouse1.10866085
68GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.10200967
69SMAD3_21741376_ChIP-Seq_EPCs_Human1.09371019
70* CTCF_27219007_Chip-Seq_Bcells_Human1.08289761
71BMI1_23680149_ChIP-Seq_NPCS_Mouse1.08000666
72ZFP281_27345836_Chip-Seq_ESCs_Mouse1.07084018
73VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.06175249
74AR_25329375_ChIP-Seq_VCAP_Human1.03660129
75RNF2_27304074_Chip-Seq_NSC_Mouse1.01825508
76TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.00947083
77TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.00871470
78ZNF217_24962896_ChIP-Seq_MCF-7_Human1.00588024
79TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.00332369
80SMAD3_21741376_ChIP-Seq_ESCs_Human0.99770930
81SMAD4_21741376_ChIP-Seq_HESCs_Human0.98421638
82RBPJ_22232070_ChIP-Seq_NCS_Mouse0.97371887
83TCF4_23295773_ChIP-Seq_U87_Human0.96179570
84TET1_21490601_ChIP-Seq_MESCs_Mouse0.95656764
85MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.95516558
86* SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.94909625
87P300_19829295_ChIP-Seq_ESCs_Human0.94639348
88HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.94510617
89TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.93448494
90SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.93120675
91TOP2B_26459242_ChIP-Seq_MCF-7_Human0.92017504
92AHR_22903824_ChIP-Seq_MCF-7_Human0.91684794
93ARNT_22903824_ChIP-Seq_MCF-7_Human0.91395020
94SMAD3_21741376_ChIP-Seq_HESCs_Human0.91025422
95STAT6_21828071_ChIP-Seq_BEAS2B_Human0.90324440
96TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.89883720
97ZFP57_27257070_Chip-Seq_ESCs_Mouse0.89340013
98GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.88983857
99PIAS1_25552417_ChIP-Seq_VCAP_Human0.87097250
100OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.86848349
101BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.86177306
102ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.83575690
103PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.83068713
104OCT4_19829295_ChIP-Seq_ESCs_Human0.82848935
105SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.82674393
106AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.81750862
107KDM2B_26808549_Chip-Seq_JURKAT_Human0.80594430
108POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.80198840
109TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.80198840
110TAF15_26573619_Chip-Seq_HEK293_Human0.79810595
111CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.79539468
112NR3C1_21868756_ChIP-Seq_MCF10A_Human0.79449233
113RUNX2_22187159_ChIP-Seq_PCA_Human0.79385052
114FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.77952499
115LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.77295164
116DPY_21335234_ChIP-Seq_ESCs_Mouse0.76768467
117STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.75983109
118SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.75274435
119NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.74182128
120CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.73624910
121KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.72692210
122RUNX1_26923725_Chip-Seq_HPCs_Mouse0.71970467
123* PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.70815713

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.95965775
2MP0003880_abnormal_central_pattern3.75383099
3MP0003635_abnormal_synaptic_transmissio3.74805364
4MP0004270_analgesia3.48048486
5MP0002063_abnormal_learning/memory/cond3.04669041
6MP0005423_abnormal_somatic_nervous2.90332934
7MP0002822_catalepsy2.86706856
8MP0009745_abnormal_behavioral_response2.80434244
9MP0002909_abnormal_adrenal_gland2.71588655
10MP0002064_seizures2.61072775
11MP0009780_abnormal_chondrocyte_physiolo2.46545273
12MP0002572_abnormal_emotion/affect_behav2.42811202
13MP0002734_abnormal_mechanical_nocicepti2.38071689
14MP0009046_muscle_twitch2.37113547
15MP0001486_abnormal_startle_reflex2.19382740
16MP0001984_abnormal_olfaction2.15388874
17MP0002272_abnormal_nervous_system2.12798462
18MP0001968_abnormal_touch/_nociception2.12652145
19MP0003283_abnormal_digestive_organ2.11978779
20MP0005551_abnormal_eye_electrophysiolog2.03683614
21MP0000778_abnormal_nervous_system1.90677117
22MP0004811_abnormal_neuron_physiology1.87447359
23MP0002184_abnormal_innervation1.87176679
24MP0005646_abnormal_pituitary_gland1.84649613
25MP0006072_abnormal_retinal_apoptosis1.84232931
26MP0001502_abnormal_circadian_rhythm1.79994699
27MP0005645_abnormal_hypothalamus_physiol1.79196985
28MP0003787_abnormal_imprinting1.76632736
29MP0002733_abnormal_thermal_nociception1.74407259
30MP0002557_abnormal_social/conspecific_i1.72688031
31MP0001501_abnormal_sleep_pattern1.72043141
32MP0004858_abnormal_nervous_system1.71764318
33MP0003123_paternal_imprinting1.70808362
34MP0001970_abnormal_pain_threshold1.67000874
35MP0000955_abnormal_spinal_cord1.66704374
36MP0008569_lethality_at_weaning1.65132400
37MP0003121_genomic_imprinting1.62133467
38MP0002067_abnormal_sensory_capabilities1.61834286
39MP0002882_abnormal_neuron_morphology1.57724763
40MP0001440_abnormal_grooming_behavior1.54255117
41MP0004885_abnormal_endolymph1.53512275
42MP0004924_abnormal_behavior1.53206277
43MP0005386_behavior/neurological_phenoty1.53206277
44MP0003879_abnormal_hair_cell1.51785638
45MP0005499_abnormal_olfactory_system1.51706190
46MP0005394_taste/olfaction_phenotype1.51706190
47MP0002735_abnormal_chemical_nociception1.50587426
48MP0003122_maternal_imprinting1.49566623
49MP0010386_abnormal_urinary_bladder1.48965721
50MP0008961_abnormal_basal_metabolism1.47739868
51MP0006292_abnormal_olfactory_placode1.47362241
52MP0002638_abnormal_pupillary_reflex1.45151823
53MP0000569_abnormal_digit_pigmentation1.41715740
54MP0002234_abnormal_pharynx_morphology1.40445138
55MP0006276_abnormal_autonomic_nervous1.38638422
56MP0003329_amyloid_beta_deposits1.37411650
57MP0002653_abnormal_ependyma_morphology1.33478210
58MP0002736_abnormal_nociception_after1.32632896
59MP0005253_abnormal_eye_physiology1.27594209
60MP0000631_abnormal_neuroendocrine_gland1.27342988
61MP0002066_abnormal_motor_capabilities/c1.26256327
62MP0000013_abnormal_adipose_tissue1.25052283
63MP0002090_abnormal_vision1.24660786
64MP0002229_neurodegeneration1.18706494
65MP0004043_abnormal_pH_regulation1.18262119
66MP0002152_abnormal_brain_morphology1.16953964
67MP0003633_abnormal_nervous_system1.13243318
68MP0001529_abnormal_vocalization1.10250829
69MP0003183_abnormal_peptide_metabolism1.08456385
70MP0002069_abnormal_eating/drinking_beha1.08167606
71MP0008789_abnormal_olfactory_epithelium0.99150144
72MP0008877_abnormal_DNA_methylation0.98572598
73MP0002752_abnormal_somatic_nervous0.97501392
74MP0001944_abnormal_pancreas_morphology0.95537274
75MP0003172_abnormal_lysosome_physiology0.94585873
76MP0003690_abnormal_glial_cell0.93784180
77MP0005187_abnormal_penis_morphology0.90658378
78MP0002693_abnormal_pancreas_physiology0.90430746
79MP0004085_abnormal_heartbeat0.89184345
80MP0004233_abnormal_muscle_weight0.88540731
81MP0004145_abnormal_muscle_electrophysio0.87920853
82MP0003631_nervous_system_phenotype0.87117420
83MP0003634_abnormal_glial_cell0.85341244
84MP0003632_abnormal_nervous_system0.83855424
85MP0005195_abnormal_posterior_eye0.81993775
86MP0000920_abnormal_myelination0.80536367
87MP0001188_hyperpigmentation0.79847247
88MP0003938_abnormal_ear_development0.78233218
89MP0001348_abnormal_lacrimal_gland0.76143788
90MP0001177_atelectasis0.75688050
91MP0000026_abnormal_inner_ear0.75481341
92MP0001485_abnormal_pinna_reflex0.75169176
93MP0003861_abnormal_nervous_system0.74781387
94MP0001943_abnormal_respiration0.74644928
95MP0000678_abnormal_parathyroid_gland0.74487736
96MP0004133_heterotaxia0.73494867
97MP0000604_amyloidosis0.73360208
98MP0005535_abnormal_body_temperature0.71466468
99MP0004742_abnormal_vestibular_system0.69924937
100MP0002751_abnormal_autonomic_nervous0.68355520
101MP0003075_altered_response_to0.67884754
102MP0010770_preweaning_lethality0.67050150
103MP0002082_postnatal_lethality0.67050150
104MP0002081_perinatal_lethality0.66729313
105MP0005248_abnormal_Harderian_gland0.66531282
106MP0002078_abnormal_glucose_homeostasis0.66310420
107MP0001986_abnormal_taste_sensitivity0.66080904
108MP0010769_abnormal_survival0.65476938
109MP0004142_abnormal_muscle_tone0.65290411
110MP0003890_abnormal_embryonic-extraembry0.64579772
111MP0003137_abnormal_impulse_conducting0.64341460
112MP0000003_abnormal_adipose_tissue0.64152644
113MP0003119_abnormal_digestive_system0.64000583
114MP0000751_myopathy0.63638863
115MP0001299_abnormal_eye_distance/0.63156325
116MP0001905_abnormal_dopamine_level0.62969423
117MP0010768_mortality/aging0.62150750
118MP0002102_abnormal_ear_morphology0.61698825
119MP0001963_abnormal_hearing_physiology0.61239717
120MP0005409_darkened_coat_color0.60990736
121MP0003953_abnormal_hormone_level0.58550381
122MP0002928_abnormal_bile_duct0.57400665
123MP0004130_abnormal_muscle_cell0.56816384
124MP0002249_abnormal_larynx_morphology0.55966451
125MP0000534_abnormal_ureter_morphology0.55288587

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)5.48005690
2Focal motor seizures (HP:0011153)5.07730944
3Visual hallucinations (HP:0002367)4.49368736
4Focal seizures (HP:0007359)4.37347138
5Epileptic encephalopathy (HP:0200134)4.12729802
6Progressive cerebellar ataxia (HP:0002073)3.59593634
7Elevated circulating parathyroid hormone (PTH) level (HP:0003165)3.49384006
8Central scotoma (HP:0000603)3.44487085
9Supranuclear gaze palsy (HP:0000605)3.42386227
10Congenital stationary night blindness (HP:0007642)3.40990285
11Febrile seizures (HP:0002373)3.35491966
12Absence seizures (HP:0002121)3.32710040
13Ankle clonus (HP:0011448)3.30766612
14Depression (HP:0000716)3.22713298
15Action tremor (HP:0002345)3.20947033
16Papilledema (HP:0001085)3.19176775
17Generalized tonic-clonic seizures (HP:0002069)2.97464074
18EEG with generalized epileptiform discharges (HP:0011198)2.95062679
19Dialeptic seizures (HP:0011146)2.94675256
20Epileptiform EEG discharges (HP:0011182)2.93775361
21Atonic seizures (HP:0010819)2.91065553
22Genetic anticipation (HP:0003743)2.85692931
23Akinesia (HP:0002304)2.83638855
24Abnormality of the lower motor neuron (HP:0002366)2.80892695
25Insomnia (HP:0100785)2.80112043
26Hypsarrhythmia (HP:0002521)2.75689902
27Poor eye contact (HP:0000817)2.70470724
28Agitation (HP:0000713)2.69186157
29Impaired vibration sensation in the lower limbs (HP:0002166)2.68082020
30Mutism (HP:0002300)2.67276825
31Hemiparesis (HP:0001269)2.66864338
32Sleep apnea (HP:0010535)2.63574049
33Truncal ataxia (HP:0002078)2.62322724
34Anxiety (HP:0000739)2.61748487
35Urinary bladder sphincter dysfunction (HP:0002839)2.58603681
36Dysdiadochokinesis (HP:0002075)2.55602740
37Abnormality of macular pigmentation (HP:0008002)2.54705622
38Torticollis (HP:0000473)2.52949383
39Impaired social interactions (HP:0000735)2.52601780
40Abnormal social behavior (HP:0012433)2.52601780
41Drooling (HP:0002307)2.52375640
42Excessive salivation (HP:0003781)2.52375640
43Amblyopia (HP:0000646)2.48591579
44Broad-based gait (HP:0002136)2.46708269
45Postural instability (HP:0002172)2.46463561
46Abnormal rod and cone electroretinograms (HP:0008323)2.44689864
47Gaze-evoked nystagmus (HP:0000640)2.42598889
48Severe visual impairment (HP:0001141)2.42120699
49Ventricular fibrillation (HP:0001663)2.39345517
50Impaired smooth pursuit (HP:0007772)2.39229308
51Morphological abnormality of the pyramidal tract (HP:0002062)2.37539166
52Hypoplasia of the brainstem (HP:0002365)2.33469048
53Aplasia/Hypoplasia of the brainstem (HP:0007362)2.33469048
54Megalencephaly (HP:0001355)2.33304843
55Abnormal eating behavior (HP:0100738)2.32135107
56Limb dystonia (HP:0002451)2.28056671
57Focal dystonia (HP:0004373)2.28047305
58Pointed chin (HP:0000307)2.25725613
59Fetal akinesia sequence (HP:0001989)2.25624221
60Spastic gait (HP:0002064)2.25285898
61Decreased central vision (HP:0007663)2.24768144
62Dysmetria (HP:0001310)2.23201200
63Status epilepticus (HP:0002133)2.23080788
64Scotoma (HP:0000575)2.22255944
65Apathy (HP:0000741)2.20923778
66Hyperacusis (HP:0010780)2.18803511
67Spastic tetraplegia (HP:0002510)2.17655427
68Cerebral hypomyelination (HP:0006808)2.16548031
69Hypoplasia of the corpus callosum (HP:0002079)2.15871386
70Neoplasm of the heart (HP:0100544)2.14709104
71Failure to thrive in infancy (HP:0001531)2.13584054
72Abnormality of ocular smooth pursuit (HP:0000617)2.12708330
73Annular pancreas (HP:0001734)2.12162563
74Elfin facies (HP:0004428)2.09389682
75Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.07970835
76Degeneration of the lateral corticospinal tracts (HP:0002314)2.07970835
77Stereotypic behavior (HP:0000733)2.07750106
78Prolonged QT interval (HP:0001657)2.07354636
79Urinary urgency (HP:0000012)2.06939914
80Absent rod-and cone-mediated responses on ERG (HP:0007688)2.06547773
81Peripheral hypomyelination (HP:0007182)2.04628663
82Bradykinesia (HP:0002067)2.03879232
83Abnormality of calcium-phosphate metabolism (HP:0100530)2.03532697
84Bony spicule pigmentary retinopathy (HP:0007737)2.02922031
85Macroorchidism (HP:0000053)2.01998210
86Diminished motivation (HP:0000745)2.01438060
87Abnormal EKG (HP:0003115)2.01340913
88Craniofacial dystonia (HP:0012179)2.00923215
89Hemiplegia (HP:0002301)2.00839705
90Decreased circulating renin level (HP:0003351)1.97252206
91Pheochromocytoma (HP:0002666)1.95235968
92Incomplete penetrance (HP:0003829)1.94972378
93Tetraplegia (HP:0002445)1.94523171
94Lissencephaly (HP:0001339)1.93197376
95Lower limb muscle weakness (HP:0007340)1.91308514
96Clonus (HP:0002169)1.91258614
97Pachygyria (HP:0001302)1.90570466
98Hepatoblastoma (HP:0002884)1.88951925
99Neurofibrillary tangles (HP:0002185)1.88387895
100Neuronal loss in central nervous system (HP:0002529)1.88321298
101Spastic tetraparesis (HP:0001285)1.88038026
102Intention tremor (HP:0002080)1.88005882
103Hypoventilation (HP:0002791)1.87851589
104Cortical dysplasia (HP:0002539)1.87100282
105Cerebral inclusion bodies (HP:0100314)1.86537610
106Exotropia (HP:0000577)1.86082919
107Amyotrophic lateral sclerosis (HP:0007354)1.84861714
108Muscular hypotonia of the trunk (HP:0008936)1.84859494
109Retinal dysplasia (HP:0007973)1.81118728
110Diplopia (HP:0000651)1.80917964
111Abnormality of binocular vision (HP:0011514)1.80917964
112Hypercortisolism (HP:0001578)1.80058831
113Polyphagia (HP:0002591)1.80037895
114Hyperinsulinemic hypoglycemia (HP:0000825)1.79856003
115Type II diabetes mellitus (HP:0005978)1.78687687
116Lower limb amyotrophy (HP:0007210)1.74702624
117Paraplegia (HP:0010550)1.74035614
118Absent speech (HP:0001344)1.73337954
119Dysmetric saccades (HP:0000641)1.72967264
120Abnormality of salivation (HP:0100755)1.72901248
121Insidious onset (HP:0003587)1.72372341
122Termporal pattern (HP:0011008)1.72372341
123Gait imbalance (HP:0002141)1.71486819
124Specific learning disability (HP:0001328)1.71325743
125Poor suck (HP:0002033)1.70200724
126Inappropriate behavior (HP:0000719)1.70169442
127Ankyloglossia (HP:0010296)1.69696898
128Scanning speech (HP:0002168)1.68339308
129Obstructive sleep apnea (HP:0002870)1.67193276
130Hyperventilation (HP:0002883)1.67071796
131Abnormality of the corticospinal tract (HP:0002492)1.66980094
132Impaired vibratory sensation (HP:0002495)1.65704883

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MARK14.26621840
2NTRK34.23175945
3EPHA43.81567972
4MAP3K93.77013186
5PRKD32.81501286
6MAP3K42.50430959
7DAPK22.49913175
8PAK62.44488941
9MINK12.43217168
10KSR22.12870424
11NTRK22.10729999
12CAMKK11.95751446
13MAP2K71.87821813
14DYRK21.86352997
15KSR11.83683043
16INSRR1.83609117
17CDK51.56351960
18MAP3K21.54698376
19NTRK11.54661480
20SIK21.53926065
21TNIK1.52695839
22UHMK11.47797132
23PRPF4B1.46068474
24STK381.39801141
25BCR1.38449279
26MAPK131.37349842
27TAOK11.28981432
28DAPK11.22087535
29MAP2K41.17353134
30PRKCH1.16969708
31MARK21.14074247
32PHKG21.12808754
33PHKG11.12808754
34TYRO31.12579984
35FES1.12031812
36SGK2231.08121318
37SGK4941.08121318
38CAMKK21.06116118
39PRKCG1.05021869
40RIPK10.99006848
41CAMK1G0.98183846
42RET0.97524518
43PKN10.96422163
44MAP3K10.95429586
45PNCK0.94393030
46DYRK1A0.93975688
47GRK50.93208349
48CDC42BPA0.91396765
49ALK0.90482157
50CAMK10.90451911
51HIPK20.88899573
52PAK30.87930424
53STK110.86948181
54WNK30.83443405
55ICK0.83030231
56CDK180.81807626
57DYRK1B0.81753141
58ERBB30.81689192
59CDK150.80322478
60CDK140.79514757
61SGK20.79090307
62EPHA30.78174178
63MAP3K130.77709438
64NEK10.77157010
65CAMK2A0.75777948
66SGK30.74841980
67SCYL20.74155335
68CSNK1G30.74031834
69ARAF0.70359316
70CSNK1A1L0.70129684
71CDK11A0.69019839
72CSNK1G20.68542932
73FGFR20.66404085
74RPS6KA20.65968123
75PLK20.65100474
76SGK10.63795888
77EPHB20.63768165
78PRKCZ0.61340727
79CASK0.60172201
80CAMK2B0.60045523
81CAMK1D0.58470985
82MAP4K20.58268946
83PRKD20.57711459
84TRIM280.57706073
85PINK10.57487355
86PDGFRA0.57372268
87FER0.57116318
88RPS6KA30.55897925
89CAMK40.55754328
90RIPK40.55496583
91TESK10.54587272
92ERBB20.53165911
93LIMK10.53064495
94BRSK10.50760023
95MAPK100.50638865
96PRKAA10.50617737
97IRAK20.50343637
98TRIB30.48854978
99MAPK120.48146017
100TAOK30.48075889
101CSNK1G10.47309957
102CAMK2D0.46837834
103FYN0.44842328
104MAP3K70.43285132
105LMTK20.42353993
106PRKCE0.42176253
107RAF10.41547058
108CSNK1D0.41298057
109MAPK80.41290271
110CSNK1E0.41205588
111LATS20.41137330
112PDK10.41088114
113PASK0.41002178
114CAMK2G0.39092423
115PRKCB0.39075315
116SIK30.38761273
117CDK190.38318638
118MAPK90.37514608
119OXSR10.37262384
120PDPK10.37195028
121GSK3B0.36845044
122NEK60.36257853
123PRKACA0.31653066
124MAP3K60.29127108
125PRKG10.28603583
126WNK10.27264245

Predicted pathways (KEGG)

RankGene SetZ-score
1Synaptic vesicle cycle_Homo sapiens_hsa047213.18013111
2Nicotine addiction_Homo sapiens_hsa050333.04637778
3GABAergic synapse_Homo sapiens_hsa047272.74713170
4Olfactory transduction_Homo sapiens_hsa047402.69147975
5Circadian entrainment_Homo sapiens_hsa047132.66639537
6Insulin secretion_Homo sapiens_hsa049112.58272120
7Morphine addiction_Homo sapiens_hsa050322.48850759
8Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.41148230
9Glutamatergic synapse_Homo sapiens_hsa047242.31027828
10Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.27220432
11Amphetamine addiction_Homo sapiens_hsa050312.22980293
12Long-term potentiation_Homo sapiens_hsa047202.18254991
13Dopaminergic synapse_Homo sapiens_hsa047282.15718247
14Cholinergic synapse_Homo sapiens_hsa047252.06456978
15Cocaine addiction_Homo sapiens_hsa050301.90737899
16Aldosterone synthesis and secretion_Homo sapiens_hsa049251.89711349
17Type II diabetes mellitus_Homo sapiens_hsa049301.87772745
18Salivary secretion_Homo sapiens_hsa049701.80323073
19Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.63130762
20Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.62562380
21Taste transduction_Homo sapiens_hsa047421.60601105
22Renin secretion_Homo sapiens_hsa049241.57618417
23Gastric acid secretion_Homo sapiens_hsa049711.56049271
24Serotonergic synapse_Homo sapiens_hsa047261.54283487
25Oxytocin signaling pathway_Homo sapiens_hsa049211.53574964
26Maturity onset diabetes of the young_Homo sapiens_hsa049501.50959144
27Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.45212680
28Phototransduction_Homo sapiens_hsa047441.39210362
29Long-term depression_Homo sapiens_hsa047301.34972988
30Gap junction_Homo sapiens_hsa045401.34701943
31Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.31628989
32GnRH signaling pathway_Homo sapiens_hsa049121.29097239
33Calcium signaling pathway_Homo sapiens_hsa040201.28275867
34cAMP signaling pathway_Homo sapiens_hsa040241.20111461
35Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050141.18302733
36Axon guidance_Homo sapiens_hsa043601.15519776
37Estrogen signaling pathway_Homo sapiens_hsa049151.15305886
38Carbohydrate digestion and absorption_Homo sapiens_hsa049731.14714971
39Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.11193871
40Glioma_Homo sapiens_hsa052141.10645954
41cGMP-PKG signaling pathway_Homo sapiens_hsa040221.10080822
42Phosphatidylinositol signaling system_Homo sapiens_hsa040701.10026271
43Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.06185191
44Circadian rhythm_Homo sapiens_hsa047101.02004295
45ErbB signaling pathway_Homo sapiens_hsa040120.98633365
46Pancreatic secretion_Homo sapiens_hsa049720.98056639
47Type I diabetes mellitus_Homo sapiens_hsa049400.97675934
48Melanogenesis_Homo sapiens_hsa049160.96036523
49Collecting duct acid secretion_Homo sapiens_hsa049660.95733295
50Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.92639601
51Vibrio cholerae infection_Homo sapiens_hsa051100.90898403
52mTOR signaling pathway_Homo sapiens_hsa041500.90648449
53Vascular smooth muscle contraction_Homo sapiens_hsa042700.88123362
54Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.84887006
55Phospholipase D signaling pathway_Homo sapiens_hsa040720.81936868
56Thyroid hormone signaling pathway_Homo sapiens_hsa049190.81811313
57Endometrial cancer_Homo sapiens_hsa052130.81729082
58Thyroid hormone synthesis_Homo sapiens_hsa049180.81648806
59Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.77690192
60Dorso-ventral axis formation_Homo sapiens_hsa043200.77643159
61Vitamin B6 metabolism_Homo sapiens_hsa007500.75804169
62Dilated cardiomyopathy_Homo sapiens_hsa054140.75089404
63Neurotrophin signaling pathway_Homo sapiens_hsa047220.74629969
64Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.74185401
65Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.73795061
66Oocyte meiosis_Homo sapiens_hsa041140.73242881
67Glucagon signaling pathway_Homo sapiens_hsa049220.72944743
68Alcoholism_Homo sapiens_hsa050340.72678239
69MAPK signaling pathway_Homo sapiens_hsa040100.68928679
70Choline metabolism in cancer_Homo sapiens_hsa052310.68755228
71Longevity regulating pathway - mammal_Homo sapiens_hsa042110.66798561
72VEGF signaling pathway_Homo sapiens_hsa043700.65816054
73Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.64385665
74Renal cell carcinoma_Homo sapiens_hsa052110.61662737
75Cardiac muscle contraction_Homo sapiens_hsa042600.60788819
76Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.59504475
77Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.57139394
78Inositol phosphate metabolism_Homo sapiens_hsa005620.55668880
79Non-small cell lung cancer_Homo sapiens_hsa052230.55569305
80Insulin signaling pathway_Homo sapiens_hsa049100.55519733
81Ras signaling pathway_Homo sapiens_hsa040140.55436873
82Endocytosis_Homo sapiens_hsa041440.53722534
83Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.53710786
84Hippo signaling pathway_Homo sapiens_hsa043900.52383579
85Colorectal cancer_Homo sapiens_hsa052100.51255704
86Prion diseases_Homo sapiens_hsa050200.49970845
87Nitrogen metabolism_Homo sapiens_hsa009100.49702033
88Wnt signaling pathway_Homo sapiens_hsa043100.49255031
89Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.48805324
90Rap1 signaling pathway_Homo sapiens_hsa040150.47216477
91Prolactin signaling pathway_Homo sapiens_hsa049170.45647482
92Central carbon metabolism in cancer_Homo sapiens_hsa052300.45227849
93Butanoate metabolism_Homo sapiens_hsa006500.45040534
94Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.43723884
95Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.42492184
96Sphingolipid signaling pathway_Homo sapiens_hsa040710.41980864
97Bile secretion_Homo sapiens_hsa049760.41173308
98Chemokine signaling pathway_Homo sapiens_hsa040620.39369483
99Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.38812036
100Ovarian steroidogenesis_Homo sapiens_hsa049130.38734270
101Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.38391368
102Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.35491481
103Tight junction_Homo sapiens_hsa045300.35253048
104Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.33604202
105Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.33446475
106Alzheimers disease_Homo sapiens_hsa050100.33359284
107SNARE interactions in vesicular transport_Homo sapiens_hsa041300.33351563
108N-Glycan biosynthesis_Homo sapiens_hsa005100.32721108
109AMPK signaling pathway_Homo sapiens_hsa041520.32281884
110Notch signaling pathway_Homo sapiens_hsa043300.31714373
111Insulin resistance_Homo sapiens_hsa049310.29118340
112Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.26480213
113Hedgehog signaling pathway_Homo sapiens_hsa043400.25383561

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