KCNIP4

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 family of voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belong to the recoverin branch of the EF-hand superfamily. Members of the KCNIP family are small calcium binding proteins. They all have EF-hand-like domains, and differ from each other in the N-terminus. They are integral subunit components of native Kv4 channel complexes. They may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. This protein member also interacts with presenilin. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified 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)5.57665076
2synaptic vesicle exocytosis (GO:0016079)5.36397062
3sodium ion export (GO:0071436)5.30500959
4vocalization behavior (GO:0071625)5.23480607
5neuron cell-cell adhesion (GO:0007158)5.04293911
6short-term memory (GO:0007614)5.01664588
7glutamate secretion (GO:0014047)4.97888084
8positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.85000388
9neuronal action potential propagation (GO:0019227)4.84219258
10regulation of synaptic vesicle exocytosis (GO:2000300)4.70178626
11regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.62132738
12locomotory exploration behavior (GO:0035641)4.60022208
13regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.58268202
14synaptic vesicle maturation (GO:0016188)4.51999967
15positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.47302153
16ionotropic glutamate receptor signaling pathway (GO:0035235)4.42972039
17cellular sodium ion homeostasis (GO:0006883)4.41047246
18regulation of glutamate receptor signaling pathway (GO:1900449)4.36860839
19protein localization to synapse (GO:0035418)4.36832855
20cerebellar Purkinje cell layer development (GO:0021680)4.36397251
21cell communication by electrical coupling involved in cardiac conduction (GO:0086064)4.34448943
22neuron-neuron synaptic transmission (GO:0007270)4.25546523
23neurotransmitter secretion (GO:0007269)4.20863974
24glutamate receptor signaling pathway (GO:0007215)4.12780464
25regulation of synaptic vesicle transport (GO:1902803)4.11909730
26positive regulation of dendritic spine morphogenesis (GO:0061003)4.06472421
27C4-dicarboxylate transport (GO:0015740)4.05811439
28synaptic transmission, glutamatergic (GO:0035249)4.04495269
29gamma-aminobutyric acid signaling pathway (GO:0007214)4.01871514
30regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)4.01679502
31cell differentiation in hindbrain (GO:0021533)4.00851686
32negative regulation of dendrite morphogenesis (GO:0050774)3.98870860
33neurofilament cytoskeleton organization (GO:0060052)3.88869293
34synaptic vesicle docking involved in exocytosis (GO:0016081)3.88614010
35positive regulation of phosphoprotein phosphatase activity (GO:0032516)3.86441217
36regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.78944407
37exploration behavior (GO:0035640)3.78721890
38positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.77854548
39cell communication by electrical coupling (GO:0010644)3.74933297
40proline transport (GO:0015824)3.69901462
41negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.68157443
42gamma-aminobutyric acid transport (GO:0015812)3.65908805
43presynaptic membrane assembly (GO:0097105)3.64167905
44regulation of excitatory postsynaptic membrane potential (GO:0060079)3.62622106
45negative regulation of synaptic transmission, GABAergic (GO:0032229)3.61290420
46regulation of neuronal synaptic plasticity (GO:0048168)3.59783854
47regulation of long-term neuronal synaptic plasticity (GO:0048169)3.59350056
48acidic amino acid transport (GO:0015800)3.58752858
49neurotransmitter transport (GO:0006836)3.57847041
50potassium ion homeostasis (GO:0055075)3.57784508
51membrane depolarization during action potential (GO:0086010)3.53955293
52regulation of dendritic spine morphogenesis (GO:0061001)3.52257434
53serotonin metabolic process (GO:0042428)3.51132612
54synaptic vesicle endocytosis (GO:0048488)3.50451895
55regulation of postsynaptic membrane potential (GO:0060078)3.49189842
56cellular potassium ion homeostasis (GO:0030007)3.48715356
57cerebellar Purkinje cell differentiation (GO:0021702)3.48440066
58positive regulation of synapse maturation (GO:0090129)3.47963250
59membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.46732095
60long-term synaptic potentiation (GO:0060291)3.44326268
61response to histamine (GO:0034776)3.43273138
62neuronal ion channel clustering (GO:0045161)3.43088234
63presynaptic membrane organization (GO:0097090)3.41347231
64adult walking behavior (GO:0007628)3.40982731
65mating behavior (GO:0007617)3.38316338
66positive regulation of synaptic transmission, GABAergic (GO:0032230)3.37903154
67neuron recognition (GO:0008038)3.37786630
68neurotransmitter-gated ion channel clustering (GO:0072578)3.37776078
69regulation of neurotransmitter secretion (GO:0046928)3.36939972
70regulation of synaptic transmission, glutamatergic (GO:0051966)3.35798157
71positive regulation of dendritic spine development (GO:0060999)3.35501053
72regulation of neurotransmitter levels (GO:0001505)3.32581733
73transmission of nerve impulse (GO:0019226)3.30477998
74membrane depolarization (GO:0051899)3.29986461
75long-term memory (GO:0007616)3.29231317
76detection of calcium ion (GO:0005513)3.27316904
77G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.26456592
78L-amino acid import (GO:0043092)3.26126586
79L-glutamate transport (GO:0015813)3.25853896
80potassium ion import (GO:0010107)3.25776241
81negative regulation of dendrite development (GO:2000171)3.25473576
82neuromuscular synaptic transmission (GO:0007274)3.23737623
83regulation of vesicle fusion (GO:0031338)3.22630414
84regulation of synaptic plasticity (GO:0048167)3.22215943
85regulation of glutamate secretion (GO:0014048)3.21735165
86innervation (GO:0060384)3.18525028
87cerebellar granule cell differentiation (GO:0021707)3.18098410
88synaptic transmission, dopaminergic (GO:0001963)3.18013971
89regulation of synapse structural plasticity (GO:0051823)3.14993713
90postsynaptic membrane organization (GO:0001941)3.14878817
91primary amino compound metabolic process (GO:1901160)3.13028450
92regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.13009196
93membrane hyperpolarization (GO:0060081)3.12913128
94behavioral response to cocaine (GO:0048148)3.12202149
95cell communication involved in cardiac conduction (GO:0086065)3.10988146
96positive regulation of membrane potential (GO:0045838)3.10856963
97energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)3.10751742
98ATP hydrolysis coupled proton transport (GO:0015991)3.10751742
99neuronal action potential (GO:0019228)3.10211692
100synaptic transmission (GO:0007268)3.10090403
101regulation of neurotransmitter transport (GO:0051588)3.09440490
102amino acid import (GO:0043090)3.07799728
103synapse assembly (GO:0007416)3.06485995
104auditory behavior (GO:0031223)3.05743307
105chemosensory behavior (GO:0007635)3.04283075
106positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)3.03979347
107regulation of protein kinase A signaling (GO:0010738)2.98447071
108prepulse inhibition (GO:0060134)2.98301883
109calcium ion-dependent exocytosis (GO:0017156)2.97712174
110activation of protein kinase A activity (GO:0034199)2.97575463
111neuromuscular process controlling posture (GO:0050884)2.97522681
112establishment of synaptic vesicle localization (GO:0097480)2.95122112
113synaptic vesicle transport (GO:0048489)2.95122112
114layer formation in cerebral cortex (GO:0021819)2.94309827
115transferrin transport (GO:0033572)2.93071609
116positive regulation of synapse assembly (GO:0051965)2.92606032
117intraspecies interaction between organisms (GO:0051703)2.91665914
118social behavior (GO:0035176)2.91665914
119axonal fasciculation (GO:0007413)2.91530367
120vesicle transport along microtubule (GO:0047496)2.91218385
121striatum development (GO:0021756)2.88772603
122regulation of synapse maturation (GO:0090128)2.88582494
123positive regulation of potassium ion transmembrane transport (GO:1901381)2.87652454
124cell migration in hindbrain (GO:0021535)2.87362128
125regulation of synaptic transmission (GO:0050804)2.86392483
126learning (GO:0007612)2.86358317
127regulation of voltage-gated calcium channel activity (GO:1901385)2.84102764
128behavioral fear response (GO:0001662)2.84032807
129behavioral defense response (GO:0002209)2.84032807

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.98938891
2GBX2_23144817_ChIP-Seq_PC3_Human4.10731853
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.16937653
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.10243910
5JARID2_20064375_ChIP-Seq_MESCs_Mouse2.97039159
6TAF15_26573619_Chip-Seq_HEK293_Human2.83818479
7REST_21632747_ChIP-Seq_MESCs_Mouse2.69746821
8SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.65865785
9EZH2_18974828_ChIP-Seq_MESCs_Mouse2.57148851
10RNF2_18974828_ChIP-Seq_MESCs_Mouse2.57148851
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.56358983
12SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.47405878
13* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.45799883
14MTF2_20144788_ChIP-Seq_MESCs_Mouse2.44071858
15SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.41409903
16EZH2_27304074_Chip-Seq_ESCs_Mouse2.38543053
17* EED_16625203_ChIP-ChIP_MESCs_Mouse2.24419123
18REST_18959480_ChIP-ChIP_MESCs_Mouse2.19942536
19CTBP2_25329375_ChIP-Seq_LNCAP_Human2.16946542
20IKZF1_21737484_ChIP-ChIP_HCT116_Human2.12365709
21RARB_27405468_Chip-Seq_BRAIN_Mouse2.11109959
22SUZ12_27294783_Chip-Seq_ESCs_Mouse2.07615101
23CTBP1_25329375_ChIP-Seq_LNCAP_Human2.04444417
24NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.04099498
25EZH2_27294783_Chip-Seq_ESCs_Mouse2.03186795
26RNF2_27304074_Chip-Seq_ESCs_Mouse1.98179604
27DROSHA_22980978_ChIP-Seq_HELA_Human1.97670588
28ZFP57_27257070_Chip-Seq_ESCs_Mouse1.95313235
29* SMAD4_21799915_ChIP-Seq_A2780_Human1.94954073
30ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.90199211
31GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.86996033
32CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.82248990
33TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.81818733
34BMI1_23680149_ChIP-Seq_NPCS_Mouse1.79115658
35* P300_19829295_ChIP-Seq_ESCs_Human1.76471534
36* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.66593780
37AR_21572438_ChIP-Seq_LNCaP_Human1.66272319
38IGF1R_20145208_ChIP-Seq_DFB_Human1.61744470
39* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.60236414
40NR3C1_23031785_ChIP-Seq_PC12_Mouse1.57364275
41POU3F2_20337985_ChIP-ChIP_501MEL_Human1.52539785
42TOP2B_26459242_ChIP-Seq_MCF-7_Human1.51261989
43GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.47663172
44SMAD_19615063_ChIP-ChIP_OVARY_Human1.45737698
45AR_25329375_ChIP-Seq_VCAP_Human1.45315547
46ZNF274_21170338_ChIP-Seq_K562_Hela1.44121938
47* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.43374610
48SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.41484483
49SMAD3_21741376_ChIP-Seq_EPCs_Human1.39861074
50MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.39566953
51PIAS1_25552417_ChIP-Seq_VCAP_Human1.38352435
52CBX2_27304074_Chip-Seq_ESCs_Mouse1.37143951
53* SOX2_21211035_ChIP-Seq_LN229_Gbm1.34880671
54PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.34514319
55SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.34498937
56ERG_21242973_ChIP-ChIP_JURKAT_Human1.34488435
57RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.33190621
58ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.32369841
59FUS_26573619_Chip-Seq_HEK293_Human1.31468406
60RNF2_27304074_Chip-Seq_NSC_Mouse1.30453690
61* STAT3_23295773_ChIP-Seq_U87_Human1.28980597
62* VDR_22108803_ChIP-Seq_LS180_Human1.28264489
63* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.27916737
64GATA1_26923725_Chip-Seq_HPCs_Mouse1.21997791
65TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.20857187
66RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.19951817
67AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.19085128
68P53_22127205_ChIP-Seq_FIBROBLAST_Human1.17017771
69LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.16180564
70PRDM14_20953172_ChIP-Seq_ESCs_Human1.14825679
71* TCF4_23295773_ChIP-Seq_U87_Human1.14622987
72* JUN_21703547_ChIP-Seq_K562_Human1.13947522
73CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.13399481
74CDX2_19796622_ChIP-Seq_MESCs_Mouse1.12899703
75ER_23166858_ChIP-Seq_MCF-7_Human1.11827377
76* RUNX2_22187159_ChIP-Seq_PCA_Human1.10997091
77RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.08733174
78CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.08049597
79ARNT_22903824_ChIP-Seq_MCF-7_Human1.07936511
80* BCAT_22108803_ChIP-Seq_LS180_Human1.07923280
81* AR_19668381_ChIP-Seq_PC3_Human1.07842299
82RING1B_27294783_Chip-Seq_ESCs_Mouse1.07703240
83SOX9_26525672_Chip-Seq_HEART_Mouse1.06765192
84AHR_22903824_ChIP-Seq_MCF-7_Human1.06718385
85EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.06640123
86NANOG_18555785_Chip-Seq_ESCs_Mouse1.03217304
87MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.02824371
88TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.01575014
89TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.01263331
90POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.01263331
91TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.01140227
92RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.99373558
93RBPJ_22232070_ChIP-Seq_NCS_Mouse0.96924077
94TAL1_26923725_Chip-Seq_HPCs_Mouse0.96803534
95* YAP1_20516196_ChIP-Seq_MESCs_Mouse0.95891556
96KDM2B_26808549_Chip-Seq_REH_Human0.95618864
97PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.94686811
98TP53_18474530_ChIP-ChIP_U2OS_Human0.94626532
99ZNF217_24962896_ChIP-Seq_MCF-7_Human0.93317823
100SMAD3_21741376_ChIP-Seq_ESCs_Human0.93097654
101FLI1_21867929_ChIP-Seq_TH2_Mouse0.92622969
102NR3C1_21868756_ChIP-Seq_MCF10A_Human0.92606347
103* CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.91722262
104KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.91483018
105TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.90229851
106MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.89858161
107TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse0.89536285
108* FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.89314745
109MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.86686007
110SMAD4_21741376_ChIP-Seq_EPCs_Human0.86437285
111E2F1_18555785_Chip-Seq_ESCs_Mouse0.86408191
112WT1_25993318_ChIP-Seq_PODOCYTE_Human0.85814928
113BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.85258273

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.13467871
2MP0003880_abnormal_central_pattern5.05002829
3MP0001968_abnormal_touch/_nociception4.30693935
4MP0003635_abnormal_synaptic_transmissio3.79619210
5MP0002736_abnormal_nociception_after3.76451982
6MP0002735_abnormal_chemical_nociception3.62037590
7MP0004270_analgesia3.57330380
8MP0009046_muscle_twitch3.28274996
9MP0009745_abnormal_behavioral_response3.28199922
10MP0002064_seizures3.10606863
11MP0002734_abnormal_mechanical_nocicepti3.09337048
12MP0002063_abnormal_learning/memory/cond2.99461306
13MP0002272_abnormal_nervous_system2.84563391
14MP0002733_abnormal_thermal_nociception2.73535141
15MP0002572_abnormal_emotion/affect_behav2.71302619
16MP0006276_abnormal_autonomic_nervous2.68012631
17MP0001970_abnormal_pain_threshold2.51923365
18MP0005423_abnormal_somatic_nervous2.50165189
19MP0001501_abnormal_sleep_pattern2.39847541
20MP0002067_abnormal_sensory_capabilities2.32754228
21MP0001440_abnormal_grooming_behavior2.25480777
22MP0001486_abnormal_startle_reflex2.14271792
23MP0001984_abnormal_olfaction2.11590547
24MP0002822_catalepsy2.11070580
25MP0002184_abnormal_innervation2.04325077
26MP0001905_abnormal_dopamine_level1.79189567
27MP0005386_behavior/neurological_phenoty1.72348446
28MP0004924_abnormal_behavior1.72348446
29MP0001529_abnormal_vocalization1.71134459
30MP0008569_lethality_at_weaning1.70777823
31MP0001986_abnormal_taste_sensitivity1.68890484
32MP0004858_abnormal_nervous_system1.68845662
33MP0002557_abnormal_social/conspecific_i1.65969381
34MP0003329_amyloid_beta_deposits1.62054964
35MP0000778_abnormal_nervous_system1.56487840
36MP0003122_maternal_imprinting1.55278264
37MP0004142_abnormal_muscle_tone1.53763729
38MP0004811_abnormal_neuron_physiology1.53472324
39MP0002837_dystrophic_cardiac_calcinosis1.53037826
40MP0001188_hyperpigmentation1.51809382
41MP0005646_abnormal_pituitary_gland1.50239829
42MP0000955_abnormal_spinal_cord1.42584189
43MP0002909_abnormal_adrenal_gland1.36436302
44MP0002066_abnormal_motor_capabilities/c1.35310860
45MP0002882_abnormal_neuron_morphology1.32431676
46MP0003879_abnormal_hair_cell1.30356288
47MP0005645_abnormal_hypothalamus_physiol1.28942238
48MP0008877_abnormal_DNA_methylation1.26744297
49MP0003633_abnormal_nervous_system1.20539024
50MP0010386_abnormal_urinary_bladder1.18151969
51MP0009780_abnormal_chondrocyte_physiolo1.15254767
52MP0001502_abnormal_circadian_rhythm1.14395534
53MP0002876_abnormal_thyroid_physiology1.14332945
54MP0008872_abnormal_physiological_respon1.13721223
55MP0003787_abnormal_imprinting1.11287236
56MP0004145_abnormal_muscle_electrophysio1.06481371
57MP0003631_nervous_system_phenotype1.06427267
58MP0001485_abnormal_pinna_reflex1.06205780
59MP0002229_neurodegeneration0.99029389
60MP0004742_abnormal_vestibular_system0.96717130
61MP0000751_myopathy0.96519834
62MP0003123_paternal_imprinting0.96152837
63MP0005551_abnormal_eye_electrophysiolog0.94858393
64MP0008874_decreased_physiological_sensi0.93105118
65MP0004147_increased_porphyrin_level0.92478016
66MP0002152_abnormal_brain_morphology0.90339563
67MP0005535_abnormal_body_temperature0.85348234
68MP0002069_abnormal_eating/drinking_beha0.84845145
69MP0003121_genomic_imprinting0.83471660
70MP0005499_abnormal_olfactory_system0.83457993
71MP0005394_taste/olfaction_phenotype0.83457993
72MP0005187_abnormal_penis_morphology0.83187325
73MP0000013_abnormal_adipose_tissue0.82272155
74MP0001963_abnormal_hearing_physiology0.81519073
75MP0004085_abnormal_heartbeat0.80575756
76MP0002752_abnormal_somatic_nervous0.79597902
77MP0002751_abnormal_autonomic_nervous0.77691718
78MP0004484_altered_response_of0.77488006
79MP0004215_abnormal_myocardial_fiber0.76377903
80MP0003632_abnormal_nervous_system0.75269735
81MP0004043_abnormal_pH_regulation0.74955325
82MP0001664_abnormal_digestion0.74089205
83MP0008875_abnormal_xenobiotic_pharmacok0.73373393
84MP0000604_amyloidosis0.73347817
85MP0005409_darkened_coat_color0.72247084
86MP0004885_abnormal_endolymph0.72101123
87MP0003634_abnormal_glial_cell0.71781115
88MP0005623_abnormal_meninges_morphology0.66985622
89MP0002090_abnormal_vision0.64392887
90MP0000566_synostosis0.62964436
91MP0002638_abnormal_pupillary_reflex0.62840653
92MP0000631_abnormal_neuroendocrine_gland0.58618089
93MP0001177_atelectasis0.57107152
94MP0001943_abnormal_respiration0.56544824
95MP0006072_abnormal_retinal_apoptosis0.55544405
96MP0001299_abnormal_eye_distance/0.55328109
97MP0005171_absent_coat_pigmentation0.55068129
98MP0010768_mortality/aging0.54435763
99MP0003861_abnormal_nervous_system0.54222830
100MP0000920_abnormal_myelination0.54156811
101MP0000026_abnormal_inner_ear0.53391297
102MP0003183_abnormal_peptide_metabolism0.52782988
103MP0004133_heterotaxia0.52477378
104MP0002102_abnormal_ear_morphology0.50960629
105MP0003137_abnormal_impulse_conducting0.49808077
106MP0006035_abnormal_mitochondrial_morpho0.49419461
107MP0003956_abnormal_body_size0.47153538
108MP0004036_abnormal_muscle_relaxation0.46465126
109MP0000538_abnormal_urinary_bladder0.44039917
110MP0010770_preweaning_lethality0.43943112
111MP0002082_postnatal_lethality0.43943112
112MP0005410_abnormal_fertilization0.43382515
113MP0000569_abnormal_digit_pigmentation0.43002030
114MP0010769_abnormal_survival0.42482839
115MP0005379_endocrine/exocrine_gland_phen0.42270026
116MP0003690_abnormal_glial_cell0.41289013

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.91882527
2Myokymia (HP:0002411)6.05561026
3Atonic seizures (HP:0010819)5.81863713
4Focal seizures (HP:0007359)5.81177554
5Febrile seizures (HP:0002373)5.23289134
6Visual hallucinations (HP:0002367)5.15132902
7Epileptic encephalopathy (HP:0200134)5.03328912
8Absence seizures (HP:0002121)4.59367036
9Progressive cerebellar ataxia (HP:0002073)4.55390444
10Dialeptic seizures (HP:0011146)4.25981682
11Action tremor (HP:0002345)3.93234179
12Intention tremor (HP:0002080)3.84593733
13Hyperventilation (HP:0002883)3.82133188
14Generalized tonic-clonic seizures (HP:0002069)3.81931715
15Limb dystonia (HP:0002451)3.68674057
16Pheochromocytoma (HP:0002666)3.62216773
17Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)3.38969936
18Degeneration of the lateral corticospinal tracts (HP:0002314)3.38969936
19Broad-based gait (HP:0002136)3.36451589
20Neuroendocrine neoplasm (HP:0100634)3.36063426
21Gaze-evoked nystagmus (HP:0000640)3.21442257
22Truncal ataxia (HP:0002078)3.16419327
23Amblyopia (HP:0000646)3.10503792
24Insidious onset (HP:0003587)2.95747382
25Termporal pattern (HP:0011008)2.95747382
26Poor eye contact (HP:0000817)2.94301524
27Failure to thrive in infancy (HP:0001531)2.85643703
28Abnormal eating behavior (HP:0100738)2.82032154
29Progressive inability to walk (HP:0002505)2.81637274
30Dysdiadochokinesis (HP:0002075)2.79763688
31Impaired social interactions (HP:0000735)2.79486293
32Abnormal social behavior (HP:0012433)2.79486293
33Impaired vibration sensation in the lower limbs (HP:0002166)2.75980685
34Abnormality of saccadic eye movements (HP:0000570)2.73297837
35Anxiety (HP:0000739)2.72883537
36Supranuclear gaze palsy (HP:0000605)2.71937181
37Dysmetria (HP:0001310)2.68956751
38Depression (HP:0000716)2.63373878
39Hypothermia (HP:0002045)2.63347979
40Hemiplegia (HP:0002301)2.59047420
41Ankle clonus (HP:0011448)2.58599012
42Inability to walk (HP:0002540)2.58297672
43Abnormal hair whorl (HP:0010721)2.54643384
44Epileptiform EEG discharges (HP:0011182)2.50060479
45Scanning speech (HP:0002168)2.48693476
46Gait imbalance (HP:0002141)2.46466281
47Diplopia (HP:0000651)2.45089996
48Abnormality of binocular vision (HP:0011514)2.45089996
49Urinary bladder sphincter dysfunction (HP:0002839)2.39969496
50Acute necrotizing encephalopathy (HP:0006965)2.38900586
51Polyphagia (HP:0002591)2.37081613
52Drooling (HP:0002307)2.36135205
53Excessive salivation (HP:0003781)2.36135205
54EEG with generalized epileptiform discharges (HP:0011198)2.34853565
55Neurofibrillary tangles (HP:0002185)2.34564868
56Abnormality of pain sensation (HP:0010832)2.32282531
57Impaired pain sensation (HP:0007328)2.32282531
58Progressive macrocephaly (HP:0004481)2.31352767
59Lower limb muscle weakness (HP:0007340)2.31313368
60Hypoventilation (HP:0002791)2.26442567
61Abnormal mitochondria in muscle tissue (HP:0008316)2.24085480
62Ulnar claw (HP:0001178)2.23777605
63Congenital primary aphakia (HP:0007707)2.23459896
64Morphological abnormality of the pyramidal tract (HP:0002062)2.22018954
65Fetal akinesia sequence (HP:0001989)2.20753689
66Medial flaring of the eyebrow (HP:0010747)2.20687040
67Impaired smooth pursuit (HP:0007772)2.20494064
68Abnormality of the corticospinal tract (HP:0002492)2.16611992
69Hypsarrhythmia (HP:0002521)2.16196578
70Hemiparesis (HP:0001269)2.15845396
71Cerebral inclusion bodies (HP:0100314)2.13884633
72Absent speech (HP:0001344)2.13680003
73Postural tremor (HP:0002174)2.13422955
74Mutism (HP:0002300)2.12110663
75Bradykinesia (HP:0002067)2.10870215
76Genital tract atresia (HP:0001827)2.10083358
77Nephrogenic diabetes insipidus (HP:0009806)2.08793137
78Spastic gait (HP:0002064)2.08783512
79Urinary urgency (HP:0000012)2.08477082
80Status epilepticus (HP:0002133)2.07980002
81Dysautonomia (HP:0002459)2.07281249
82Abnormality of ocular smooth pursuit (HP:0000617)2.06347411
83Gait ataxia (HP:0002066)2.05246404
84Limb ataxia (HP:0002070)2.04694178
85Abnormality of the lower motor neuron (HP:0002366)2.04283179
86Vaginal atresia (HP:0000148)2.04170505
87Agitation (HP:0000713)2.02564380
88Cerebral hypomyelination (HP:0006808)2.02479652
89Hyperthyroidism (HP:0000836)2.02421597
90Psychosis (HP:0000709)2.02042604
91Delusions (HP:0000746)2.02009190
92Specific learning disability (HP:0001328)2.01429663
93Esotropia (HP:0000565)1.99301887
94Neoplasm of the peripheral nervous system (HP:0100007)1.98812650
95Retinal dysplasia (HP:0007973)1.96719498
96Myotonia (HP:0002486)1.94437091
97Akinesia (HP:0002304)1.94233347
98Blue irides (HP:0000635)1.92259315
99Exotropia (HP:0000577)1.91593893
100Mitochondrial inheritance (HP:0001427)1.91030954
101Torticollis (HP:0000473)1.88851683
102Horizontal nystagmus (HP:0000666)1.88807644
103Dysmetric saccades (HP:0000641)1.88458887
104Postural instability (HP:0002172)1.88394125
105Focal dystonia (HP:0004373)1.87987373
106Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.87458860
107Neuronal loss in central nervous system (HP:0002529)1.86161960
108Incomplete penetrance (HP:0003829)1.85150945
109Impaired vibratory sensation (HP:0002495)1.82250455
110Protruding tongue (HP:0010808)1.81345341
111Genetic anticipation (HP:0003743)1.80565311
112Generalized myoclonic seizures (HP:0002123)1.80531834
113Craniofacial dystonia (HP:0012179)1.80139261
114Papilledema (HP:0001085)1.78595841
115Aplasia of the phalanges of the hand (HP:0009802)1.78521854
116Aplasia involving bones of the extremities (HP:0009825)1.78521854
117Aplasia involving bones of the upper limbs (HP:0009823)1.78521854
118Tetraplegia (HP:0002445)1.76384610
119Sleep apnea (HP:0010535)1.75848211
120Spastic tetraplegia (HP:0002510)1.73316938
121Rigidity (HP:0002063)1.71819496
122Dysarthria (HP:0001260)1.71752219
123Syncope (HP:0001279)1.69152667
124Slow progression (HP:0003677)1.68326152
125Peripheral hypomyelination (HP:0007182)1.63382506
126Amyotrophic lateral sclerosis (HP:0007354)1.61026969
127Choreoathetosis (HP:0001266)1.60497845
128Prolonged QT interval (HP:0001657)1.60088130
129Heterochromia iridis (HP:0001100)1.59119870
130Annular pancreas (HP:0001734)1.58763900
131Apathy (HP:0000741)1.58453477
132CNS hypomyelination (HP:0003429)1.56373109

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.27805093
2CASK3.48169562
3MAP3K93.40128918
4MAP3K123.30924353
5MAP3K43.30042911
6EPHA43.12575951
7MAP2K72.98676180
8MINK12.72529320
9RIPK42.71310170
10GRK52.48334457
11DAPK22.27961393
12MAP2K42.27339666
13ARAF2.06058722
14NTRK12.05149790
15KSR21.98456436
16PLK21.87107504
17PNCK1.82590825
18MARK11.78284564
19MAP4K21.73748150
20DAPK11.60643241
21PAK61.55687326
22MAP3K111.50429492
23CAMKK21.47243340
24NTRK21.46567675
25KSR11.32424614
26CDK51.30730489
27CDK191.30468380
28PRPF4B1.26950633
29MAPK131.25653576
30PRKCG1.24183388
31PTK2B1.16960690
32CAMK2A1.16168465
33CAMKK11.15617360
34TNIK1.14708417
35SIK31.14702092
36FES1.11555014
37MAP3K21.09399556
38CSNK1G31.08577458
39SGK2231.08397167
40SGK4941.08397167
41CSNK1A1L1.08144290
42CAMK2B1.05623743
43SGK21.05027211
44NME11.00133800
45MAPKAPK50.96506142
46BMPR20.95965636
47UHMK10.91177489
48CDK140.91070728
49SIK20.90405621
50MAP3K130.89994333
51FER0.89151082
52RET0.88850261
53OXSR10.88701212
54CDK180.87194261
55CCNB10.87053268
56AKT30.85968220
57PRKD30.84419340
58CSNK1G10.82669347
59ADRBK20.81941859
60GRK70.81486974
61CDK150.80529020
62STK380.78021349
63CAMK2D0.77787224
64WNK30.77199216
65LATS20.76591947
66PRKCE0.73510914
67BRAF0.70601023
68LIMK10.69438620
69PRKG10.69411457
70CDK11A0.69103719
71SGK30.67544749
72TNK20.67227972
73TYRO30.66675957
74CSNK1G20.66557827
75LMTK20.66433266
76PHKG20.65743683
77PHKG10.65743683
78RAF10.65646046
79CAMK2G0.65272473
80MAP2K10.62397573
81MAP3K50.62347650
82ADRBK10.61713748
83CAMK10.61197222
84PINK10.60908507
85MAP3K10.60086424
86CAMK40.59801875
87DYRK1A0.58222339
88BCR0.57375424
89PAK30.57149774
90FGR0.56980497
91WNK10.55384833
92PRKCH0.53758405
93MAPK100.53719055
94FYN0.52719930
95TSSK60.52479013
96MARK20.51138952
97SGK10.50736539
98PRKCA0.49244516
99STK110.48938794
100MAPK120.48810151
101PKN10.45892055
102FRK0.44841794
103NEK60.44652035
104STK390.44405415
105PDK10.42740812
106RPS6KA20.41871118
107PDK40.41377661
108PDK30.41377661
109PDPK10.40929455
110PRKACA0.40701488
111CSNK1E0.40636858
112GRK60.40197649
113CSNK1D0.39422959
114MAP3K60.38299809
115PRKCZ0.38058827
116PRKCB0.36987943
117CSNK1A10.36935208
118MUSK0.36794451
119RPS6KA30.35525746
120WNK40.35189277
121ROCK20.34851967
122ALK0.34285375
123DAPK30.32653460
124PRKDC0.32230371
125TESK10.27658358
126DYRK20.24920062
127SRC0.24904713

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.01958969
2Synaptic vesicle cycle_Homo sapiens_hsa047213.75088447
3Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.84478514
4Long-term potentiation_Homo sapiens_hsa047202.64759373
5GABAergic synapse_Homo sapiens_hsa047272.60965095
6Collecting duct acid secretion_Homo sapiens_hsa049662.58006183
7Olfactory transduction_Homo sapiens_hsa047402.57499331
8Circadian entrainment_Homo sapiens_hsa047132.51895482
9Amphetamine addiction_Homo sapiens_hsa050312.45649384
10Glutamatergic synapse_Homo sapiens_hsa047242.43019610
11Morphine addiction_Homo sapiens_hsa050322.41135704
12Taste transduction_Homo sapiens_hsa047422.24422157
13Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.23571791
14Dopaminergic synapse_Homo sapiens_hsa047282.21757970
15Salivary secretion_Homo sapiens_hsa049702.07001805
16Nitrogen metabolism_Homo sapiens_hsa009101.99738140
17Insulin secretion_Homo sapiens_hsa049111.97564527
18Oxidative phosphorylation_Homo sapiens_hsa001901.94203769
19Long-term depression_Homo sapiens_hsa047301.91490878
20Serotonergic synapse_Homo sapiens_hsa047261.88744462
21Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.73515214
22Cholinergic synapse_Homo sapiens_hsa047251.72344006
23Renin secretion_Homo sapiens_hsa049241.65642942
24Gastric acid secretion_Homo sapiens_hsa049711.61850679
25Cocaine addiction_Homo sapiens_hsa050301.56249240
26Aldosterone synthesis and secretion_Homo sapiens_hsa049251.55285819
27Calcium signaling pathway_Homo sapiens_hsa040201.55071259
28Vibrio cholerae infection_Homo sapiens_hsa051101.52557749
29Parkinsons disease_Homo sapiens_hsa050121.49124681
30Alzheimers disease_Homo sapiens_hsa050101.47508521
31Cardiac muscle contraction_Homo sapiens_hsa042601.47275038
32Oxytocin signaling pathway_Homo sapiens_hsa049211.44194238
33Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.43189201
34Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.42984322
35Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.42676035
36GnRH signaling pathway_Homo sapiens_hsa049121.32990740
37Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.32679542
38Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.31971375
39Gap junction_Homo sapiens_hsa045401.21941810
40Phosphatidylinositol signaling system_Homo sapiens_hsa040701.18528110
41Phototransduction_Homo sapiens_hsa047441.11718583
42Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.07657750
43Estrogen signaling pathway_Homo sapiens_hsa049151.06253703
44cAMP signaling pathway_Homo sapiens_hsa040241.01201219
45Huntingtons disease_Homo sapiens_hsa050160.99468677
46Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.92778903
47cGMP-PKG signaling pathway_Homo sapiens_hsa040220.90024309
48Vascular smooth muscle contraction_Homo sapiens_hsa042700.87614007
49Melanogenesis_Homo sapiens_hsa049160.86279578
50Pancreatic secretion_Homo sapiens_hsa049720.85406321
51Glioma_Homo sapiens_hsa052140.83796123
52Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.83167123
53Type II diabetes mellitus_Homo sapiens_hsa049300.82556031
54Thyroid hormone synthesis_Homo sapiens_hsa049180.79433225
55Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.78936897
56Oocyte meiosis_Homo sapiens_hsa041140.78847225
57ErbB signaling pathway_Homo sapiens_hsa040120.76744530
58Axon guidance_Homo sapiens_hsa043600.75094223
59Dorso-ventral axis formation_Homo sapiens_hsa043200.71429867
60Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.69374308
61Rheumatoid arthritis_Homo sapiens_hsa053230.69173471
62Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.62509020
63Phospholipase D signaling pathway_Homo sapiens_hsa040720.61376230
64MAPK signaling pathway_Homo sapiens_hsa040100.55327743
65Glucagon signaling pathway_Homo sapiens_hsa049220.54876183
66Choline metabolism in cancer_Homo sapiens_hsa052310.54770800
67Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.52251121
68Inositol phosphate metabolism_Homo sapiens_hsa005620.51178492
69African trypanosomiasis_Homo sapiens_hsa051430.50104055
70Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.49250178
71Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.49004409
72Alcoholism_Homo sapiens_hsa050340.48895916
73Phagosome_Homo sapiens_hsa041450.47196306
74Carbohydrate digestion and absorption_Homo sapiens_hsa049730.45885221
75Vitamin B6 metabolism_Homo sapiens_hsa007500.43792827
76Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.43773137
77Dilated cardiomyopathy_Homo sapiens_hsa054140.43585596
78Neurotrophin signaling pathway_Homo sapiens_hsa047220.42972494
79Ras signaling pathway_Homo sapiens_hsa040140.42319459
80SNARE interactions in vesicular transport_Homo sapiens_hsa041300.41738201
81Circadian rhythm_Homo sapiens_hsa047100.41314276
82Type I diabetes mellitus_Homo sapiens_hsa049400.41231813
83VEGF signaling pathway_Homo sapiens_hsa043700.38179450
84Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.37503606
85Rap1 signaling pathway_Homo sapiens_hsa040150.35132942
86Sphingolipid signaling pathway_Homo sapiens_hsa040710.33066963
87Bile secretion_Homo sapiens_hsa049760.32238880
88Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.31723180
89Insulin signaling pathway_Homo sapiens_hsa049100.30253800
90Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.29897027
91Regulation of autophagy_Homo sapiens_hsa041400.29250047
92Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.26048371
93Endocytosis_Homo sapiens_hsa041440.25766158
94Prion diseases_Homo sapiens_hsa050200.24918011
95Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.24858034
96Thyroid hormone signaling pathway_Homo sapiens_hsa049190.24436986
97Glycerophospholipid metabolism_Homo sapiens_hsa005640.24341458
98Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.24150946
99Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.23730207
100Fatty acid biosynthesis_Homo sapiens_hsa000610.23214932
101Mineral absorption_Homo sapiens_hsa049780.22684297
102Arginine biosynthesis_Homo sapiens_hsa002200.22660956
103Pyruvate metabolism_Homo sapiens_hsa006200.21306957
104Melanoma_Homo sapiens_hsa052180.20942750
105mTOR signaling pathway_Homo sapiens_hsa041500.20340061
106Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.20306817
107Wnt signaling pathway_Homo sapiens_hsa043100.18853519
108Ovarian steroidogenesis_Homo sapiens_hsa049130.18275778
109Glycerolipid metabolism_Homo sapiens_hsa005610.16114833
110Tight junction_Homo sapiens_hsa045300.15757629
111Hippo signaling pathway_Homo sapiens_hsa043900.10457712
112Arginine and proline metabolism_Homo sapiens_hsa003300.09754641
113Phenylalanine metabolism_Homo sapiens_hsa003600.08979379

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