CELF5

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 the CELF/BRUNOL protein family, which 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. Alternatively spliced transcript variants 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)6.08495139
2positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.95878615
3vocalization behavior (GO:0071625)5.90530647
4locomotory exploration behavior (GO:0035641)5.79448852
5regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.71902207
6synaptic vesicle maturation (GO:0016188)5.71327171
7positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.44504425
8regulation of glutamate receptor signaling pathway (GO:1900449)5.30497589
9synaptic vesicle exocytosis (GO:0016079)5.23046963
10protein localization to synapse (GO:0035418)5.15345118
11pyrimidine nucleobase catabolic process (GO:0006208)5.15133449
12ionotropic glutamate receptor signaling pathway (GO:0035235)5.06528370
13neuron cell-cell adhesion (GO:0007158)4.90751916
14dendritic spine morphogenesis (GO:0060997)4.87429927
15glutamate secretion (GO:0014047)4.83272359
16regulation of synaptic vesicle exocytosis (GO:2000300)4.78193171
17regulation of long-term neuronal synaptic plasticity (GO:0048169)4.73143346
18synaptic vesicle docking involved in exocytosis (GO:0016081)4.72611341
19behavioral response to nicotine (GO:0035095)4.69896884
20exploration behavior (GO:0035640)4.69846328
21regulation of neuronal synaptic plasticity (GO:0048168)4.66339303
22layer formation in cerebral cortex (GO:0021819)4.61980390
23regulation of synapse structural plasticity (GO:0051823)4.59629890
24glutamate receptor signaling pathway (GO:0007215)4.43652795
25synaptic transmission, glutamatergic (GO:0035249)4.38727892
26regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.29288191
27regulation of synaptic vesicle transport (GO:1902803)4.28999715
28nucleobase catabolic process (GO:0046113)4.23439183
29neurotransmitter secretion (GO:0007269)4.22932914
30neurotransmitter-gated ion channel clustering (GO:0072578)4.20840837
31neuronal action potential propagation (GO:0019227)4.16846906
32neuron-neuron synaptic transmission (GO:0007270)4.14202194
33regulation of dendritic spine morphogenesis (GO:0061001)4.12098143
34neuron recognition (GO:0008038)4.10509510
35regulation of excitatory postsynaptic membrane potential (GO:0060079)4.07491715
36long-term memory (GO:0007616)4.03928473
37positive regulation of membrane potential (GO:0045838)3.99724869
38establishment of mitochondrion localization (GO:0051654)3.91132714
39regulation of postsynaptic membrane potential (GO:0060078)3.87895341
40axonal fasciculation (GO:0007413)3.75190862
41membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.73499469
42regulation of synaptic plasticity (GO:0048167)3.73463183
43regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.71626914
44transmission of nerve impulse (GO:0019226)3.71457592
45gamma-aminobutyric acid transport (GO:0015812)3.70878411
46auditory behavior (GO:0031223)3.69323088
47positive regulation of synaptic transmission, GABAergic (GO:0032230)3.67688079
48positive regulation of synapse maturation (GO:0090129)3.67506431
49proline transport (GO:0015824)3.66656303
50postsynaptic membrane organization (GO:0001941)3.61237544
51G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.59128035
52positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.57596469
53dendritic spine organization (GO:0097061)3.51010471
54neuromuscular process controlling balance (GO:0050885)3.50839485
55positive regulation of neurotransmitter secretion (GO:0001956)3.50750013
56regulation of synaptic transmission, glutamatergic (GO:0051966)3.49938370
57regulation of dendritic spine development (GO:0060998)3.49848526
58positive regulation of dendritic spine development (GO:0060999)3.49751197
59regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.48114545
60neuromuscular synaptic transmission (GO:0007274)3.47775458
61dendrite morphogenesis (GO:0048813)3.47609164
62prepulse inhibition (GO:0060134)3.46341750
63neurotransmitter transport (GO:0006836)3.44614178
64positive regulation of dendritic spine morphogenesis (GO:0061003)3.42037543
65synaptic vesicle endocytosis (GO:0048488)3.41567953
66regulation of synapse maturation (GO:0090128)3.39195009
67long-term synaptic potentiation (GO:0060291)3.38504919
68positive regulation of neurotransmitter transport (GO:0051590)3.37722318
69axon ensheathment in central nervous system (GO:0032291)3.37118444
70central nervous system myelination (GO:0022010)3.37118444
71behavioral fear response (GO:0001662)3.36274151
72behavioral defense response (GO:0002209)3.36274151
73regulation of vesicle fusion (GO:0031338)3.36030992
74neuronal ion channel clustering (GO:0045161)3.35064059
75regulation of neurotransmitter secretion (GO:0046928)3.34620086
76establishment of mitochondrion localization, microtubule-mediated (GO:0034643)3.34413124
77mitochondrion transport along microtubule (GO:0047497)3.34413124
78response to auditory stimulus (GO:0010996)3.33641963
79neurofilament cytoskeleton organization (GO:0060052)3.31662118
80activation of protein kinase A activity (GO:0034199)3.31593660
81gamma-aminobutyric acid signaling pathway (GO:0007214)3.31407411
82response to histamine (GO:0034776)3.29121393
83learning (GO:0007612)3.28260950
84membrane depolarization (GO:0051899)3.27832761
85adult walking behavior (GO:0007628)3.26349424
86negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.24808096
87presynaptic membrane assembly (GO:0097105)3.24114616
88cellular potassium ion homeostasis (GO:0030007)3.22665113
89cell differentiation in hindbrain (GO:0021533)3.21749033
90regulation of neurotransmitter levels (GO:0001505)3.20245291
91positive regulation of synapse assembly (GO:0051965)3.20030703
92membrane hyperpolarization (GO:0060081)3.19993842
93cell migration in hindbrain (GO:0021535)3.19392643
94regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.17450594
95fear response (GO:0042596)3.15086719
96adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)3.14558441
97regulation of female receptivity (GO:0045924)3.13805166
98intraspecies interaction between organisms (GO:0051703)3.13417695
99social behavior (GO:0035176)3.13417695
100regulation of glutamate secretion (GO:0014048)3.13356046
101central nervous system projection neuron axonogenesis (GO:0021952)3.12208847
102synapse assembly (GO:0007416)3.12061419
103G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.11491503
104regulation of neurotransmitter transport (GO:0051588)3.10422420
105negative regulation of synaptic transmission, GABAergic (GO:0032229)3.10388997
106cerebellar granule cell differentiation (GO:0021707)3.09307684
107cerebellar Purkinje cell differentiation (GO:0021702)3.09014819
108dopamine receptor signaling pathway (GO:0007212)3.05811876
109presynaptic membrane organization (GO:0097090)3.03415657
110regulation of synaptic transmission (GO:0050804)3.03216509
111behavioral response to cocaine (GO:0048148)3.02607546
112positive regulation of synaptic transmission (GO:0050806)3.02173239
113membrane depolarization during action potential (GO:0086010)3.01354473
114positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.97515387
115innervation (GO:0060384)2.96799579
116mechanosensory behavior (GO:0007638)2.94527790
117neuromuscular process (GO:0050905)2.94164306
118axon extension (GO:0048675)2.90951631
119potassium ion homeostasis (GO:0055075)2.89846924
120serotonin metabolic process (GO:0042428)2.85629840
121protein polyglutamylation (GO:0018095)2.84414019
122synaptic transmission (GO:0007268)2.84190113
123regulation of calcium ion-dependent exocytosis (GO:0017158)2.83209150
124synapse organization (GO:0050808)2.79408956
125startle response (GO:0001964)2.78051257
126positive regulation of potassium ion transmembrane transport (GO:1901381)2.74980423
127calcium ion-dependent exocytosis (GO:0017156)2.73371454

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.42388325
2GBX2_23144817_ChIP-Seq_PC3_Human3.51805870
3JARID2_20064375_ChIP-Seq_MESCs_Mouse3.19703464
4SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.19337025
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.04233193
6REST_21632747_ChIP-Seq_MESCs_Mouse2.84517948
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.78316298
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.78316298
9* RARB_27405468_Chip-Seq_BRAIN_Mouse2.76918968
10JARID2_20075857_ChIP-Seq_MESCs_Mouse2.72465243
11EZH2_27304074_Chip-Seq_ESCs_Mouse2.69243320
12SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.67457409
13SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.57683265
14SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.54692625
15MTF2_20144788_ChIP-Seq_MESCs_Mouse2.52414796
16SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.51831971
17* DROSHA_22980978_ChIP-Seq_HELA_Human2.43665777
18* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.39063749
19EZH2_27294783_Chip-Seq_ESCs_Mouse2.37311832
20EED_16625203_ChIP-ChIP_MESCs_Mouse2.31162008
21RNF2_27304074_Chip-Seq_ESCs_Mouse2.27950521
22REST_18959480_ChIP-ChIP_MESCs_Mouse2.27946514
23CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.25219176
24NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.22576687
25TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.12159510
26IKZF1_21737484_ChIP-ChIP_HCT116_Human2.11671141
27MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.06645799
28HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.01571134
29GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.97419757
30ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.95408620
31EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.94427479
32AR_21572438_ChIP-Seq_LNCaP_Human1.88267459
33CTBP2_25329375_ChIP-Seq_LNCAP_Human1.78551933
34CTBP1_25329375_ChIP-Seq_LNCAP_Human1.67503564
35TAF15_26573619_Chip-Seq_HEK293_Human1.66515735
36ERG_21242973_ChIP-ChIP_JURKAT_Human1.64841416
37SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.58278603
38SMAD4_21799915_ChIP-Seq_A2780_Human1.51867976
39ZNF274_21170338_ChIP-Seq_K562_Hela1.42316419
40RING1B_27294783_Chip-Seq_ESCs_Mouse1.42051878
41ZFP57_27257070_Chip-Seq_ESCs_Mouse1.41957628
42PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.39663285
43PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.39522474
44CBX2_27304074_Chip-Seq_ESCs_Mouse1.38593285
45RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.33616072
46SMAD3_21741376_ChIP-Seq_EPCs_Human1.32357031
47SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.30774137
48P300_19829295_ChIP-Seq_ESCs_Human1.30295667
49BMI1_23680149_ChIP-Seq_NPCS_Mouse1.28690128
50RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.28616100
51SOX2_21211035_ChIP-Seq_LN229_Gbm1.26634472
52RING1B_27294783_Chip-Seq_NPCs_Mouse1.24050894
53DNAJC2_21179169_ChIP-ChIP_NT2_Human1.23460103
54VDR_22108803_ChIP-Seq_LS180_Human1.22532971
55RNF2_27304074_Chip-Seq_NSC_Mouse1.20866899
56NR3C1_23031785_ChIP-Seq_PC12_Mouse1.20687506
57GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.18774604
58TP53_20018659_ChIP-ChIP_R1E_Mouse1.16787125
59P53_22127205_ChIP-Seq_FIBROBLAST_Human1.16421614
60AR_19668381_ChIP-Seq_PC3_Human1.16312101
61AR_25329375_ChIP-Seq_VCAP_Human1.15952784
62* OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.14666364
63STAT3_23295773_ChIP-Seq_U87_Human1.13856716
64WT1_25993318_ChIP-Seq_PODOCYTE_Human1.13589161
65* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.13492604
66OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.11092461
67TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.10642189
68WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.10618874
69GATA1_26923725_Chip-Seq_HPCs_Mouse1.10061242
70ZFP281_18757296_ChIP-ChIP_E14_Mouse1.09479020
71IGF1R_20145208_ChIP-Seq_DFB_Human1.05336456
72TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.04950900
73KDM2B_26808549_Chip-Seq_K562_Human1.04425825
74RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.03270509
75SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.02659564
76TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.02637092
77EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.00907202
78TCF4_23295773_ChIP-Seq_U87_Human1.00569613
79MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.00234912
80YAP1_20516196_ChIP-Seq_MESCs_Mouse1.00147918
81SMAD_19615063_ChIP-ChIP_OVARY_Human0.99251700
82PIAS1_25552417_ChIP-Seq_VCAP_Human0.98710322
83ARNT_22903824_ChIP-Seq_MCF-7_Human0.98579874
84* SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.97470403
85KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.97073591
86ZNF217_24962896_ChIP-Seq_MCF-7_Human0.96634338
87FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.96561061
88CDX2_19796622_ChIP-Seq_MESCs_Mouse0.96334531
89CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.96312903
90TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.95924986
91RUNX2_22187159_ChIP-Seq_PCA_Human0.95525020
92PRDM14_20953172_ChIP-Seq_ESCs_Human0.94869696
93VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.94792032
94AHR_22903824_ChIP-Seq_MCF-7_Human0.94032111
95TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.93295927
96POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.93295927
97CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.91624190
98SMAD3_21741376_ChIP-Seq_ESCs_Human0.91112612
99CTCF_27219007_Chip-Seq_Bcells_Human0.90539747
100* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.90243875
101FUS_26573619_Chip-Seq_HEK293_Human0.90145490
102* NR3C1_21868756_ChIP-Seq_MCF10A_Human0.89878124
103SMAD3_21741376_ChIP-Seq_HESCs_Human0.89247309
104AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.88700886
105JUN_21703547_ChIP-Seq_K562_Human0.88680104
106SMAD4_21741376_ChIP-Seq_HESCs_Human0.88023835
107TP53_16413492_ChIP-PET_HCT116_Human0.87068751
108SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.86969472
109TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.86824727
110GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.86798624
111ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.86670629
112ETV2_25802403_ChIP-Seq_MESCs_Mouse0.86574529
113MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.84546101
114LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.82708935
115MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.81657270
116GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.80545651
117CBP_20019798_ChIP-Seq_JUKART_Human0.80262115
118IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.80262115
119OCT4_19829295_ChIP-Seq_ESCs_Human0.77614733

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.80501121
2MP0003880_abnormal_central_pattern5.08535050
3MP0003635_abnormal_synaptic_transmissio4.25620338
4MP0004270_analgesia3.77366000
5MP0002822_catalepsy3.55186133
6MP0002063_abnormal_learning/memory/cond3.53025278
7MP0009745_abnormal_behavioral_response3.50165750
8MP0002064_seizures3.11357893
9MP0005423_abnormal_somatic_nervous3.01166595
10MP0002572_abnormal_emotion/affect_behav2.90536943
11MP0001968_abnormal_touch/_nociception2.89043912
12MP0009046_muscle_twitch2.79619931
13MP0001486_abnormal_startle_reflex2.63674655
14MP0002734_abnormal_mechanical_nocicepti2.55107057
15MP0002272_abnormal_nervous_system2.48172601
16MP0001501_abnormal_sleep_pattern2.26200452
17MP0001440_abnormal_grooming_behavior2.18278101
18MP0002736_abnormal_nociception_after2.14302579
19MP0002735_abnormal_chemical_nociception2.11327660
20MP0000778_abnormal_nervous_system2.07667840
21MP0002733_abnormal_thermal_nociception2.02713787
22MP0001970_abnormal_pain_threshold1.93143235
23MP0002184_abnormal_innervation1.85719576
24MP0002557_abnormal_social/conspecific_i1.84599145
25MP0002067_abnormal_sensory_capabilities1.83631938
26MP0003123_paternal_imprinting1.81537737
27MP0004811_abnormal_neuron_physiology1.80230532
28MP0009780_abnormal_chondrocyte_physiolo1.80220169
29MP0006276_abnormal_autonomic_nervous1.78698259
30MP0004924_abnormal_behavior1.78290318
31MP0005386_behavior/neurological_phenoty1.78290318
32MP0003329_amyloid_beta_deposits1.74078817
33MP0001529_abnormal_vocalization1.72980486
34MP0008569_lethality_at_weaning1.66035165
35MP0002909_abnormal_adrenal_gland1.64693082
36MP0008877_abnormal_DNA_methylation1.63458569
37MP0001984_abnormal_olfaction1.62890542
38MP0005646_abnormal_pituitary_gland1.62019772
39MP0003879_abnormal_hair_cell1.54922141
40MP0004858_abnormal_nervous_system1.54290045
41MP0000955_abnormal_spinal_cord1.54096043
42MP0005645_abnormal_hypothalamus_physiol1.51437473
43MP0003787_abnormal_imprinting1.48135930
44MP0002882_abnormal_neuron_morphology1.43632136
45MP0003122_maternal_imprinting1.41784388
46MP0002066_abnormal_motor_capabilities/c1.41762766
47MP0004885_abnormal_endolymph1.40802387
48MP0001905_abnormal_dopamine_level1.37252287
49MP0001188_hyperpigmentation1.34441334
50MP0004133_heterotaxia1.25462454
51MP0001502_abnormal_circadian_rhythm1.23692843
52MP0002653_abnormal_ependyma_morphology1.22371849
53MP0003633_abnormal_nervous_system1.20508839
54MP0002152_abnormal_brain_morphology1.18996248
55MP0000569_abnormal_digit_pigmentation1.15951213
56MP0005409_darkened_coat_color1.15206806
57MP0004142_abnormal_muscle_tone1.12027073
58MP0003631_nervous_system_phenotype1.03235889
59MP0004130_abnormal_muscle_cell1.01615350
60MP0008872_abnormal_physiological_respon1.00339056
61MP0009379_abnormal_foot_pigmentation0.99591031
62MP0002069_abnormal_eating/drinking_beha0.98343222
63MP0001986_abnormal_taste_sensitivity0.96730481
64MP0000751_myopathy0.93849492
65MP0003938_abnormal_ear_development0.92794854
66MP0004742_abnormal_vestibular_system0.91388742
67MP0005394_taste/olfaction_phenotype0.90943976
68MP0005499_abnormal_olfactory_system0.90943976
69MP0010386_abnormal_urinary_bladder0.89970231
70MP0000631_abnormal_neuroendocrine_gland0.89399452
71MP0000049_abnormal_middle_ear0.89085209
72MP0008874_decreased_physiological_sensi0.87918419
73MP0001177_atelectasis0.87823006
74MP0002229_neurodegeneration0.86334571
75MP0004085_abnormal_heartbeat0.85228459
76MP0000566_synostosis0.84810890
77MP0003890_abnormal_embryonic-extraembry0.84659941
78MP0008961_abnormal_basal_metabolism0.84628495
79MP0002876_abnormal_thyroid_physiology0.84599741
80MP0003283_abnormal_digestive_organ0.81623280
81MP0005535_abnormal_body_temperature0.80332251
82MP0005551_abnormal_eye_electrophysiolog0.80208243
83MP0003075_altered_response_to0.79314888
84MP0006292_abnormal_olfactory_placode0.79173722
85MP0004145_abnormal_muscle_electrophysio0.77344611
86MP0001963_abnormal_hearing_physiology0.76617305
87MP0002752_abnormal_somatic_nervous0.76487925
88MP0003634_abnormal_glial_cell0.75678444
89MP0006072_abnormal_retinal_apoptosis0.74371705
90MP0002163_abnormal_gland_morphology0.73863464
91MP0008789_abnormal_olfactory_epithelium0.73789773
92MP0002160_abnormal_reproductive_system0.73596687
93MP0005195_abnormal_posterior_eye0.73594128
94MP0000604_amyloidosis0.70342079
95MP0003632_abnormal_nervous_system0.69637864
96MP0002102_abnormal_ear_morphology0.69512563
97MP0003861_abnormal_nervous_system0.69490903
98MP0000920_abnormal_myelination0.68770517
99MP0002928_abnormal_bile_duct0.68018732
100MP0000013_abnormal_adipose_tissue0.66508799
101MP0003690_abnormal_glial_cell0.65879834
102MP0003137_abnormal_impulse_conducting0.65750634
103MP0002751_abnormal_autonomic_nervous0.64962070
104MP0005253_abnormal_eye_physiology0.64040865
105MP0003119_abnormal_digestive_system0.63955102
106MP0002638_abnormal_pupillary_reflex0.63633861
107MP0001664_abnormal_digestion0.62907338
108MP0003011_delayed_dark_adaptation0.62887613
109MP0001485_abnormal_pinna_reflex0.61084839
110MP0002090_abnormal_vision0.60710651
111MP0001348_abnormal_lacrimal_gland0.59814915
112MP0002837_dystrophic_cardiac_calcinosis0.59581015
113MP0001299_abnormal_eye_distance/0.58047163
114MP0003121_genomic_imprinting0.57921816
115MP0002234_abnormal_pharynx_morphology0.57413157
116MP0005187_abnormal_penis_morphology0.55609550
117MP0004510_myositis0.55168650
118MP0001943_abnormal_respiration0.55024616
119MP0005167_abnormal_blood-brain_barrier0.54303331
120MP0010769_abnormal_survival0.54108156
121MP0005623_abnormal_meninges_morphology0.53032240
122MP0010770_preweaning_lethality0.52995565
123MP0002082_postnatal_lethality0.52995565
124MP0000026_abnormal_inner_ear0.52952646

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.83325917
2Myokymia (HP:0002411)7.43047961
3Focal seizures (HP:0007359)5.97507209
4Visual hallucinations (HP:0002367)5.10589475
5Epileptic encephalopathy (HP:0200134)4.81670072
6Febrile seizures (HP:0002373)4.12847284
7Atonic seizures (HP:0010819)4.12445021
8Progressive cerebellar ataxia (HP:0002073)4.00902967
9Absence seizures (HP:0002121)3.99834819
10Broad-based gait (HP:0002136)3.91870064
11Generalized tonic-clonic seizures (HP:0002069)3.81087568
12Supranuclear gaze palsy (HP:0000605)3.75722443
13Poor eye contact (HP:0000817)3.73370410
14Dialeptic seizures (HP:0011146)3.71073565
15Ankle clonus (HP:0011448)3.47861447
16Action tremor (HP:0002345)3.47408380
17Impaired vibration sensation in the lower limbs (HP:0002166)3.39008269
18Mutism (HP:0002300)3.34814894
19Hyperventilation (HP:0002883)3.30619213
20Amblyopia (HP:0000646)3.29192172
21Impaired social interactions (HP:0000735)3.28519401
22Abnormal social behavior (HP:0012433)3.28519401
23Depression (HP:0000716)3.15477570
24Papilledema (HP:0001085)3.14236115
25Abnormal eating behavior (HP:0100738)3.10578429
26Excessive salivation (HP:0003781)3.09192227
27Drooling (HP:0002307)3.09192227
28Urinary bladder sphincter dysfunction (HP:0002839)3.09139659
29Anxiety (HP:0000739)3.08572810
30Gaze-evoked nystagmus (HP:0000640)3.06723056
31Dysdiadochokinesis (HP:0002075)2.94597826
32Torticollis (HP:0000473)2.92147827
33Dysmetria (HP:0001310)2.91811789
34Hemiparesis (HP:0001269)2.85905874
35Cerebral inclusion bodies (HP:0100314)2.85389531
36Stereotypic behavior (HP:0000733)2.80574802
37Truncal ataxia (HP:0002078)2.80454129
38Neurofibrillary tangles (HP:0002185)2.80095673
39Limb dystonia (HP:0002451)2.79446657
40Progressive inability to walk (HP:0002505)2.76648311
41Focal dystonia (HP:0004373)2.74038388
42Polyphagia (HP:0002591)2.72998237
43Gait imbalance (HP:0002141)2.72640238
44Postural instability (HP:0002172)2.70904725
45Urinary urgency (HP:0000012)2.70164092
46Abnormality of the lower motor neuron (HP:0002366)2.70137424
47Genetic anticipation (HP:0003743)2.67721142
48Nephronophthisis (HP:0000090)2.61525571
49Spastic gait (HP:0002064)2.58920327
50Pancreatic fibrosis (HP:0100732)2.55762051
51Epileptiform EEG discharges (HP:0011182)2.54062297
52Diplopia (HP:0000651)2.50529670
53Abnormality of binocular vision (HP:0011514)2.50529670
54Abnormality of the corticospinal tract (HP:0002492)2.46732307
55Impaired smooth pursuit (HP:0007772)2.46023455
56Craniofacial dystonia (HP:0012179)2.43457342
57EEG with generalized epileptiform discharges (HP:0011198)2.42410571
58Absent speech (HP:0001344)2.42376739
59True hermaphroditism (HP:0010459)2.41491212
60Bradykinesia (HP:0002067)2.39979560
61Amyotrophic lateral sclerosis (HP:0007354)2.36285352
62Insidious onset (HP:0003587)2.34930538
63Termporal pattern (HP:0011008)2.34930538
64Inability to walk (HP:0002540)2.31026786
65Hypsarrhythmia (HP:0002521)2.29521030
66Molar tooth sign on MRI (HP:0002419)2.29340419
67Abnormality of midbrain morphology (HP:0002418)2.29340419
68Megalencephaly (HP:0001355)2.28189148
69Morphological abnormality of the pyramidal tract (HP:0002062)2.26672288
70Type II lissencephaly (HP:0007260)2.24186992
71Spastic tetraplegia (HP:0002510)2.24132983
72Lissencephaly (HP:0001339)2.22735385
73Pachygyria (HP:0001302)2.22590929
74Pancreatic cysts (HP:0001737)2.20843511
75Impaired vibratory sensation (HP:0002495)2.20651451
76Pointed chin (HP:0000307)2.17612258
77Intention tremor (HP:0002080)2.17523080
78Lower limb muscle weakness (HP:0007340)2.16896831
79Scanning speech (HP:0002168)2.14605107
80Fetal akinesia sequence (HP:0001989)2.13244106
81Obstructive sleep apnea (HP:0002870)2.12755166
82Abnormality of ocular smooth pursuit (HP:0000617)2.12591641
83Protruding tongue (HP:0010808)2.11840582
84Inappropriate behavior (HP:0000719)2.11073961
85Annular pancreas (HP:0001734)2.10570942
86Hemiplegia (HP:0002301)2.10284956
87Medial flaring of the eyebrow (HP:0010747)2.09307979
88Lower limb amyotrophy (HP:0007210)2.08610828
89Abnormality of salivation (HP:0100755)2.07652539
90Retinal dysplasia (HP:0007973)2.06976636
91Abnormality of the labia minora (HP:0012880)2.06593047
92Sleep apnea (HP:0010535)2.04726725
93Status epilepticus (HP:0002133)2.04387647
94Generalized myoclonic seizures (HP:0002123)2.03995199
95Insomnia (HP:0100785)2.01903035
96Abnormality of the renal medulla (HP:0100957)2.01422997
97Abnormal rod and cone electroretinograms (HP:0008323)2.01212624
98Incomplete penetrance (HP:0003829)1.99963804
99Congenital stationary night blindness (HP:0007642)1.97301470
100Neuronal loss in central nervous system (HP:0002529)1.93607670
101Pendular nystagmus (HP:0012043)1.93576468
102Agitation (HP:0000713)1.93559610
103Apathy (HP:0000741)1.93100239
104Failure to thrive in infancy (HP:0001531)1.93063422
105Cerebral hypomyelination (HP:0006808)1.91358496
106Oligodactyly (hands) (HP:0001180)1.90604152
107Ankyloglossia (HP:0010296)1.89290857
108Absent rod-and cone-mediated responses on ERG (HP:0007688)1.88464045
109Hyperthyroidism (HP:0000836)1.87393041
110Ventricular fibrillation (HP:0001663)1.87361602
111Optic nerve hypoplasia (HP:0000609)1.84129424
112Hypoplasia of the corpus callosum (HP:0002079)1.84027040
113Delusions (HP:0000746)1.83798139
114Congenital primary aphakia (HP:0007707)1.82931366
115Specific learning disability (HP:0001328)1.82849332
116Abnormal EKG (HP:0003115)1.82264575
117Blue irides (HP:0000635)1.82151859
118Chronic hepatic failure (HP:0100626)1.81149337
119Psychosis (HP:0000709)1.80595882
120Gait ataxia (HP:0002066)1.80570752
121Clonus (HP:0002169)1.80503213
122Nephrogenic diabetes insipidus (HP:0009806)1.79141729
123Poor suck (HP:0002033)1.79064698
124Dysmetric saccades (HP:0000641)1.76859407
125Autism (HP:0000717)1.76788748
126Degeneration of the lateral corticospinal tracts (HP:0002314)1.76169251
127Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.76169251
128Lower limb asymmetry (HP:0100559)1.74701360
129Akinesia (HP:0002304)1.74181348
130Hypoplasia of the brainstem (HP:0002365)1.73886676
131Aplasia/Hypoplasia of the brainstem (HP:0007362)1.73886676
132Restlessness (HP:0000711)1.71976867
133Intellectual disability, severe (HP:0010864)1.70567655
134Vaginal atresia (HP:0000148)1.70426936
135Genital tract atresia (HP:0001827)1.67934150

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA45.04069897
2NTRK34.51022110
3MARK13.88180498
4MAP3K93.73340643
5DAPK22.85564518
6MAP3K42.76336329
7MINK12.59619598
8MAP2K72.34400548
9PAK62.17129499
10NTRK22.16918722
11KSR21.96089693
12RIPK41.93555490
13PRKD31.92810604
14TNIK1.90768837
15SIK21.84725422
16KSR11.83943777
17DAPK11.80848783
18MAP3K121.79822839
19MAP2K41.68823953
20CASK1.65390202
21CDK51.62411412
22CAMKK11.61015121
23PNCK1.58366616
24NTRK11.56109660
25MAPK131.54606921
26PRPF4B1.52993419
27PLK21.36778244
28FES1.29994128
29GRK51.26044017
30TYRO31.24752675
31UHMK11.20767796
32PRKCG1.14625797
33ARAF1.14596078
34CDK191.10319046
35STK381.06122166
36ADRBK21.03747523
37MAP3K20.99399414
38PHKG10.99316417
39PHKG20.99316417
40TAOK10.99075676
41CAMK2A0.99018577
42CDK180.97804426
43WNK40.97686562
44FRK0.97303914
45CDK150.94745890
46LATS20.92395326
47MARK20.91826349
48CDK140.90528471
49STK110.89431695
50CAMK10.88284900
51CAMK2B0.87412462
52MAP3K110.85685391
53MAP3K130.85395595
54GRK10.84361340
55RAF10.83980299
56CDK11A0.83498156
57PINK10.83426256
58EPHB20.81240962
59PTK2B0.81010980
60DYRK1A0.77359635
61CSNK1G20.75429830
62PAK30.74817187
63SGK2230.74278390
64SGK4940.74278390
65BMPR20.73581385
66DYRK1B0.70345142
67CAMKK20.70217110
68SGK10.69386398
69PRKCH0.65026227
70RET0.63268114
71FGR0.62331524
72OXSR10.59919072
73CSNK1G30.59490848
74ALK0.58988982
75PRKCZ0.56487403
76SIK30.55271892
77RPS6KA20.54392144
78SGK20.54223771
79PRKACA0.53929315
80MAP4K20.53337781
81BCR0.52173458
82CSNK1A1L0.52019208
83NME10.51957093
84DYRK30.50892265
85FGFR20.49343415
86CAMK1D0.49033201
87FYN0.48774508
88PDK10.48765153
89BMPR1B0.48678734
90WNK30.48327426
91CAMK1G0.48312497
92DAPK30.47363167
93RPS6KA30.47277252
94PDPK10.47159544
95MAPK150.46423982
96INSRR0.46106169
97PRKCE0.46017222
98CSNK1E0.45437431
99TNK20.44501113
100ERBB20.43033248
101SGK30.42332407
102ADRBK10.41856477
103CSNK1G10.41621893
104CDC42BPA0.40880913
105NEK60.40839478
106MAP3K60.40517289
107MAP3K10.40363542
108CAMK40.40120813
109MAPK100.40119569
110CSNK1A10.39616050
111PRKCI0.38911346
112CAMK2D0.38894815
113PRKG10.38144287
114DYRK20.38057505
115LIMK10.37996572
116CSNK1D0.37226452
117STK390.37089981
118PKN10.36752512
119PRKCA0.36631733
120MAP2K10.36399664
121ERBB30.34559980
122CCNB10.34318201
123CAMK2G0.34047168
124DMPK0.34010384
125MAPK80.33906462
126BRSK10.33422325
127PRKAA10.33012154
128PRKCB0.32304888
129MAPK120.31952993
130MAP3K70.29720985
131FER0.29642068
132LMTK20.29557744

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.87422823
2Synaptic vesicle cycle_Homo sapiens_hsa047213.11550737
3Olfactory transduction_Homo sapiens_hsa047402.93116912
4Circadian entrainment_Homo sapiens_hsa047132.79252533
5Long-term potentiation_Homo sapiens_hsa047202.76690393
6Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.72297270
7GABAergic synapse_Homo sapiens_hsa047272.72084383
8Glutamatergic synapse_Homo sapiens_hsa047242.70892552
9Amphetamine addiction_Homo sapiens_hsa050312.61774647
10Morphine addiction_Homo sapiens_hsa050322.59727281
11Dopaminergic synapse_Homo sapiens_hsa047282.29732163
12Salivary secretion_Homo sapiens_hsa049702.14807485
13Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.08605816
14Cholinergic synapse_Homo sapiens_hsa047252.01142469
15Insulin secretion_Homo sapiens_hsa049111.93381528
16Cocaine addiction_Homo sapiens_hsa050301.90216685
17Aldosterone synthesis and secretion_Homo sapiens_hsa049251.86664216
18Gastric acid secretion_Homo sapiens_hsa049711.84760207
19Oxytocin signaling pathway_Homo sapiens_hsa049211.79950891
20Renin secretion_Homo sapiens_hsa049241.79083165
21Serotonergic synapse_Homo sapiens_hsa047261.76371842
22Long-term depression_Homo sapiens_hsa047301.73710804
23Taste transduction_Homo sapiens_hsa047421.73434367
24Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.68608898
25Calcium signaling pathway_Homo sapiens_hsa040201.64648679
26GnRH signaling pathway_Homo sapiens_hsa049121.51611689
27Gap junction_Homo sapiens_hsa045401.47549879
28Oxidative phosphorylation_Homo sapiens_hsa001901.46620630
29Axon guidance_Homo sapiens_hsa043601.44728416
30Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.34268894
31Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.34044080
32Collecting duct acid secretion_Homo sapiens_hsa049661.33051187
33Parkinsons disease_Homo sapiens_hsa050121.30321914
34cAMP signaling pathway_Homo sapiens_hsa040241.28316303
35Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.24889572
36Glioma_Homo sapiens_hsa052141.17019827
37Estrogen signaling pathway_Homo sapiens_hsa049151.14192844
38Type II diabetes mellitus_Homo sapiens_hsa049301.13327536
39Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.13164852
40Melanogenesis_Homo sapiens_hsa049161.11277901
41ErbB signaling pathway_Homo sapiens_hsa040121.10020078
42cGMP-PKG signaling pathway_Homo sapiens_hsa040221.04876299
43Phosphatidylinositol signaling system_Homo sapiens_hsa040701.03689484
44Cardiac muscle contraction_Homo sapiens_hsa042601.01423916
45Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.98103071
46Phototransduction_Homo sapiens_hsa047440.94537005
47Vascular smooth muscle contraction_Homo sapiens_hsa042700.94045755
48Oocyte meiosis_Homo sapiens_hsa041140.90887924
49Phospholipase D signaling pathway_Homo sapiens_hsa040720.85941413
50Vibrio cholerae infection_Homo sapiens_hsa051100.81487334
51Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.79713276
52Huntingtons disease_Homo sapiens_hsa050160.78819465
53Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.77345213
54Choline metabolism in cancer_Homo sapiens_hsa052310.75732402
55Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.75209872
56Pancreatic secretion_Homo sapiens_hsa049720.75186672
57Dorso-ventral axis formation_Homo sapiens_hsa043200.75057096
58MAPK signaling pathway_Homo sapiens_hsa040100.74185903
59Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.74108649
60VEGF signaling pathway_Homo sapiens_hsa043700.73767934
61Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.71355463
62Dilated cardiomyopathy_Homo sapiens_hsa054140.70710129
63Hedgehog signaling pathway_Homo sapiens_hsa043400.69199225
64Butanoate metabolism_Homo sapiens_hsa006500.67675216
65Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.66901387
66Thyroid hormone synthesis_Homo sapiens_hsa049180.66356261
67Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.64734764
68Ras signaling pathway_Homo sapiens_hsa040140.64466219
69Neurotrophin signaling pathway_Homo sapiens_hsa047220.63885534
70Alcoholism_Homo sapiens_hsa050340.63826822
71Rap1 signaling pathway_Homo sapiens_hsa040150.63274616
72Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.61002160
73Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.57925779
74Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.55788477
75Sphingolipid signaling pathway_Homo sapiens_hsa040710.55477658
76Wnt signaling pathway_Homo sapiens_hsa043100.55073377
77Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.54331392
78Regulation of autophagy_Homo sapiens_hsa041400.54291278
79alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.54139572
80Glucagon signaling pathway_Homo sapiens_hsa049220.52025495
81Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.51103959
82Linoleic acid metabolism_Homo sapiens_hsa005910.51013717
83Type I diabetes mellitus_Homo sapiens_hsa049400.50972510
84Carbohydrate digestion and absorption_Homo sapiens_hsa049730.50344574
85Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.50300946
86Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.50143807
87Renal cell carcinoma_Homo sapiens_hsa052110.50089964
88Nitrogen metabolism_Homo sapiens_hsa009100.49950017
89Alzheimers disease_Homo sapiens_hsa050100.49913518
90Basal cell carcinoma_Homo sapiens_hsa052170.49906814
91Endometrial cancer_Homo sapiens_hsa052130.49867550
92Thyroid hormone signaling pathway_Homo sapiens_hsa049190.49707101
93Hippo signaling pathway_Homo sapiens_hsa043900.49579331
94Non-small cell lung cancer_Homo sapiens_hsa052230.48735836
95Steroid biosynthesis_Homo sapiens_hsa001000.48641243
96Prion diseases_Homo sapiens_hsa050200.48595007
97African trypanosomiasis_Homo sapiens_hsa051430.47983534
98Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.46547332
99Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.46434823
100Ether lipid metabolism_Homo sapiens_hsa005650.46080394
101Endocytosis_Homo sapiens_hsa041440.45441127
102mTOR signaling pathway_Homo sapiens_hsa041500.45422339
103Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.44015641
104Circadian rhythm_Homo sapiens_hsa047100.40426521
105Longevity regulating pathway - mammal_Homo sapiens_hsa042110.38790903
106Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.37856406
107Inositol phosphate metabolism_Homo sapiens_hsa005620.37395806
108Chemokine signaling pathway_Homo sapiens_hsa040620.33900963
109Ovarian steroidogenesis_Homo sapiens_hsa049130.33579017
110Insulin signaling pathway_Homo sapiens_hsa049100.33550882
111Bile secretion_Homo sapiens_hsa049760.32909662
112Colorectal cancer_Homo sapiens_hsa052100.32312458
113Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.31730858
114Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.31065488
115Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.29955348
116Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.29900998
117Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.29458482
118Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.28364561
119Tryptophan metabolism_Homo sapiens_hsa003800.28302314
120Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.28134391
121Fatty acid biosynthesis_Homo sapiens_hsa000610.28118073
122Vitamin B6 metabolism_Homo sapiens_hsa007500.24398257
123beta-Alanine metabolism_Homo sapiens_hsa004100.23939369
124Regulation of actin cytoskeleton_Homo sapiens_hsa048100.23618843
125Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.22696162

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