CACNB4

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 beta subunit family of voltage-dependent calcium channel complex proteins. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. The protein encoded by this locus plays an important role in calcium channel function by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Certain mutations in this gene have been associated with idiopathic generalized epilepsy (IGE), juvenile myoclonic epilepsy (JME), and episodic ataxia, type 5. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle exocytosis (GO:0016079)5.31012506
2regulation of short-term neuronal synaptic plasticity (GO:0048172)5.29496946
3positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.26693320
4vocalization behavior (GO:0071625)5.08700599
5neuron cell-cell adhesion (GO:0007158)5.06313968
6glutamate secretion (GO:0014047)5.04405463
7regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.95436105
8synaptic vesicle maturation (GO:0016188)4.85337578
9regulation of synaptic vesicle exocytosis (GO:2000300)4.81421978
10locomotory exploration behavior (GO:0035641)4.81077270
11ionotropic glutamate receptor signaling pathway (GO:0035235)4.69957639
12positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.64619790
13* neuronal action potential propagation (GO:0019227)4.63021107
14protein localization to synapse (GO:0035418)4.51032708
15presynaptic membrane assembly (GO:0097105)4.48188549
16regulation of glutamate receptor signaling pathway (GO:1900449)4.42761434
17glutamate receptor signaling pathway (GO:0007215)4.39872073
18presynaptic membrane organization (GO:0097090)4.35036834
19synaptic vesicle docking involved in exocytosis (GO:0016081)4.34576557
20cerebellar granule cell differentiation (GO:0021707)4.31438654
21negative regulation of synaptic transmission, GABAergic (GO:0032229)4.26535940
22serotonin metabolic process (GO:0042428)4.23674104
23* neuron-neuron synaptic transmission (GO:0007270)4.23197895
24neurotransmitter secretion (GO:0007269)4.20513486
25regulation of synaptic vesicle transport (GO:1902803)4.16154301
26* synaptic transmission, glutamatergic (GO:0035249)4.12621668
27regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.07525304
28neurotransmitter-gated ion channel clustering (GO:0072578)4.01410985
29regulation of long-term neuronal synaptic plasticity (GO:0048169)3.92810981
30primary amino compound metabolic process (GO:1901160)3.92507490
31* gamma-aminobutyric acid signaling pathway (GO:0007214)3.87925734
32regulation of excitatory postsynaptic membrane potential (GO:0060079)3.87395498
33behavioral response to nicotine (GO:0035095)3.85235591
34regulation of neuronal synaptic plasticity (GO:0048168)3.82452283
35transmission of nerve impulse (GO:0019226)3.78503340
36positive regulation of membrane potential (GO:0045838)3.74037824
37G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.70233125
38membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.70216041
39exploration behavior (GO:0035640)3.69588857
40regulation of postsynaptic membrane potential (GO:0060078)3.67336392
41cerebellar Purkinje cell differentiation (GO:0021702)3.66289547
42regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.64304785
43long-term memory (GO:0007616)3.62764325
44long-term synaptic potentiation (GO:0060291)3.61109100
45C4-dicarboxylate transport (GO:0015740)3.55784684
46neurotransmitter transport (GO:0006836)3.52813270
47neuron recognition (GO:0008038)3.52261476
48proline transport (GO:0015824)3.48801918
49regulation of synaptic transmission, glutamatergic (GO:0051966)3.48546139
50central nervous system myelination (GO:0022010)3.47070754
51axon ensheathment in central nervous system (GO:0032291)3.47070754
52cellular potassium ion homeostasis (GO:0030007)3.45842606
53neuronal action potential (GO:0019228)3.45360611
54negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.44853252
55postsynaptic membrane organization (GO:0001941)3.41419728
56regulation of synaptic plasticity (GO:0048167)3.40976114
57regulation of neurotransmitter secretion (GO:0046928)3.38309471
58dendritic spine morphogenesis (GO:0060997)3.37809319
59layer formation in cerebral cortex (GO:0021819)3.35383564
60regulation of synapse structural plasticity (GO:0051823)3.35302413
61* gamma-aminobutyric acid transport (GO:0015812)3.34061535
62regulation of dendritic spine morphogenesis (GO:0061001)3.32055800
63positive regulation of dendritic spine morphogenesis (GO:0061003)3.31724079
64positive regulation of synapse maturation (GO:0090129)3.31562590
65behavioral response to cocaine (GO:0048148)3.31111420
66mechanosensory behavior (GO:0007638)3.28965871
67auditory behavior (GO:0031223)3.28155779
68negative regulation of neurotransmitter transport (GO:0051589)3.28139753
69regulation of neurotransmitter levels (GO:0001505)3.27418386
70neuromuscular process controlling posture (GO:0050884)3.27253538
71negative regulation of cytosolic calcium ion concentration (GO:0051481)3.27065265
72L-amino acid import (GO:0043092)3.24968715
73positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.24577140
74membrane hyperpolarization (GO:0060081)3.22836369
75positive regulation of phosphoprotein phosphatase activity (GO:0032516)3.22508214
76axonal fasciculation (GO:0007413)3.19053549
77* adult walking behavior (GO:0007628)3.18471906
78response to histamine (GO:0034776)3.16304543
79regulation of neurotransmitter transport (GO:0051588)3.14970485
80* membrane depolarization (GO:0051899)3.13978719
81synaptic vesicle endocytosis (GO:0048488)3.13287122
82regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.12993593
83regulation of synapse maturation (GO:0090128)3.11081188
84positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.10186960
85synapse assembly (GO:0007416)3.09990379
86startle response (GO:0001964)3.08295217
87neuromuscular synaptic transmission (GO:0007274)3.07817893
88regulation of vesicle fusion (GO:0031338)3.07709548
89neuromuscular process controlling balance (GO:0050885)3.05498074
90positive regulation of dendritic spine development (GO:0060999)3.05050617
91potassium ion import (GO:0010107)3.04324081
92membrane depolarization during action potential (GO:0086010)3.03622669
93neuronal ion channel clustering (GO:0045161)3.02252537
94regulation of dendritic spine development (GO:0060998)3.02218301
95behavioral response to ethanol (GO:0048149)3.01591786
96retinal cone cell development (GO:0046549)3.00830066
97learning (GO:0007612)2.98929603
98cell differentiation in hindbrain (GO:0021533)2.98243785
99response to auditory stimulus (GO:0010996)2.94983290
100* synaptic transmission (GO:0007268)2.94925543
101sodium ion export (GO:0071436)2.94508379
102positive regulation of synapse assembly (GO:0051965)2.94169278
103regulation of synaptic transmission, GABAergic (GO:0032228)2.93229222
104regulation of synaptic transmission (GO:0050804)2.92369111
105behavioral fear response (GO:0001662)2.91889653
106behavioral defense response (GO:0002209)2.91889653
107long term synaptic depression (GO:0060292)2.91747078
108regulation of glutamate secretion (GO:0014048)2.90131602
109positive regulation of synaptic transmission (GO:0050806)2.89450202
110cellular potassium ion transport (GO:0071804)2.89357751
111potassium ion transmembrane transport (GO:0071805)2.89357751
112neuromuscular process (GO:0050905)2.88668094
113negative regulation of neurotransmitter secretion (GO:0046929)2.88103774
114positive regulation of synaptic transmission, GABAergic (GO:0032230)2.86010303
115positive regulation of neurotransmitter secretion (GO:0001956)2.85788254
116* adult behavior (GO:0030534)2.85003827
117long-chain fatty acid biosynthetic process (GO:0042759)2.84436337
118pyrimidine nucleobase catabolic process (GO:0006208)2.84422286
119calcium ion-dependent exocytosis (GO:0017156)2.83896703
120neurotransmitter uptake (GO:0001504)2.82867526
121glycine transport (GO:0015816)2.82444445
122action potential (GO:0001508)2.81565760
123positive regulation of neurotransmitter transport (GO:0051590)2.81408399
124regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.81331765
125glycosphingolipid biosynthetic process (GO:0006688)2.79825886
126central nervous system projection neuron axonogenesis (GO:0021952)2.79565428
127indole-containing compound metabolic process (GO:0042430)2.78320348
128auditory receptor cell stereocilium organization (GO:0060088)2.77570657
129positive regulation of potassium ion transmembrane transport (GO:1901381)2.76979004

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.32887309
2GBX2_23144817_ChIP-Seq_PC3_Human4.13942672
3* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.11219725
4* SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.05159723
5* JARID2_20064375_ChIP-Seq_MESCs_Mouse2.97372359
6* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.61376266
7* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.61376266
8* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.54546036
9* REST_21632747_ChIP-Seq_MESCs_Mouse2.47184680
10TAF15_26573619_Chip-Seq_HEK293_Human2.47041742
11* JARID2_20075857_ChIP-Seq_MESCs_Mouse2.44973811
12* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.44775484
13SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.44477946
14* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.43483281
15EZH2_27304074_Chip-Seq_ESCs_Mouse2.42372453
16* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.37228334
17EED_16625203_ChIP-ChIP_MESCs_Mouse2.30995973
18RARB_27405468_Chip-Seq_BRAIN_Mouse2.30842151
19DROSHA_22980978_ChIP-Seq_HELA_Human2.27782624
20SUZ12_27294783_Chip-Seq_ESCs_Mouse2.11828918
21EZH2_27294783_Chip-Seq_ESCs_Mouse2.11729842
22RNF2_27304074_Chip-Seq_ESCs_Mouse2.05446056
23CTBP2_25329375_ChIP-Seq_LNCAP_Human2.04468456
24REST_18959480_ChIP-ChIP_MESCs_Mouse2.00294055
25AR_21572438_ChIP-Seq_LNCaP_Human1.95838807
26ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.95170194
27GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.91660539
28ZFP57_27257070_Chip-Seq_ESCs_Mouse1.88975654
29CTBP1_25329375_ChIP-Seq_LNCAP_Human1.86726517
30* SMAD4_21799915_ChIP-Seq_A2780_Human1.74886194
31* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.73518742
32IKZF1_21737484_ChIP-ChIP_HCT116_Human1.71232056
33NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.69390356
34P300_19829295_ChIP-Seq_ESCs_Human1.62845818
35SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.60201388
36PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.60106025
37TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.59854409
38OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.53410102
39FLI1_27457419_Chip-Seq_LIVER_Mouse1.53309293
40MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.52519645
41POU3F2_20337985_ChIP-ChIP_501MEL_Human1.50270668
42SMAD3_21741376_ChIP-Seq_EPCs_Human1.49984625
43CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.48631195
44SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.45532834
45* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.45503724
46PIAS1_25552417_ChIP-Seq_VCAP_Human1.43974436
47SMAD_19615063_ChIP-ChIP_OVARY_Human1.42651682
48CBX2_27304074_Chip-Seq_ESCs_Mouse1.41387792
49PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.40928316
50BMI1_23680149_ChIP-Seq_NPCS_Mouse1.40099867
51GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.39345340
52BCAT_22108803_ChIP-Seq_LS180_Human1.38782746
53* STAT3_23295773_ChIP-Seq_U87_Human1.34752143
54* EWS_26573619_Chip-Seq_HEK293_Human1.32994312
55TOP2B_26459242_ChIP-Seq_MCF-7_Human1.32341269
56FUS_26573619_Chip-Seq_HEK293_Human1.32214043
57RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.31140839
58ERG_21242973_ChIP-ChIP_JURKAT_Human1.30969923
59* SOX2_21211035_ChIP-Seq_LN229_Gbm1.30610062
60VDR_22108803_ChIP-Seq_LS180_Human1.30049347
61AR_25329375_ChIP-Seq_VCAP_Human1.27844923
62CBP_20019798_ChIP-Seq_JUKART_Human1.27644048
63IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.27644048
64HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.26209944
65NR3C1_23031785_ChIP-Seq_PC12_Mouse1.23522324
66ZNF274_21170338_ChIP-Seq_K562_Hela1.23291254
67TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.21539132
68CDX2_19796622_ChIP-Seq_MESCs_Mouse1.21521562
69EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.21026062
70ER_23166858_ChIP-Seq_MCF-7_Human1.20996329
71RNF2_27304074_Chip-Seq_NSC_Mouse1.20902445
72* TCF4_23295773_ChIP-Seq_U87_Human1.20635299
73AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.19980047
74PCGF2_27294783_Chip-Seq_ESCs_Mouse1.19668989
75BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.19045134
76CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.17733763
77P53_22127205_ChIP-Seq_FIBROBLAST_Human1.16839503
78ARNT_22903824_ChIP-Seq_MCF-7_Human1.16461398
79* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.15279956
80FLI1_21867929_ChIP-Seq_TH2_Mouse1.15167197
81MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.14913223
82AR_19668381_ChIP-Seq_PC3_Human1.12189565
83UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.11431074
84AHR_22903824_ChIP-Seq_MCF-7_Human1.11226812
85RING1B_27294783_Chip-Seq_ESCs_Mouse1.10662046
86ZNF217_24962896_ChIP-Seq_MCF-7_Human1.10582224
87VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.09581811
88TCF4_22108803_ChIP-Seq_LS180_Human1.08198894
89TP53_16413492_ChIP-PET_HCT116_Human1.07659573
90RUNX2_22187159_ChIP-Seq_PCA_Human1.06294861
91PRDM14_20953172_ChIP-Seq_ESCs_Human1.05524893
92TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.05120729
93* KLF5_20875108_ChIP-Seq_MESCs_Mouse1.04971175
94MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.04630548
95RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.04330377
96RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.04124444
97* NANOG_18555785_Chip-Seq_ESCs_Mouse1.03779432
98SUZ12_27294783_Chip-Seq_NPCs_Mouse1.03219972
99* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.03000453
100TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.02834189
101* TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.02742568
102RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.02012848
103LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.99930397
104BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.99642718
105* EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.99227649
106RING1B_27294783_Chip-Seq_NPCs_Mouse0.98129046
107YAP1_20516196_ChIP-Seq_MESCs_Mouse0.98024440
108NR3C1_21868756_ChIP-Seq_MCF10A_Human0.97323279
109IGF1R_20145208_ChIP-Seq_DFB_Human0.97099249
110POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.95139159
111TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.95139159
112JUN_21703547_ChIP-Seq_K562_Human0.94146088
113TP53_18474530_ChIP-ChIP_U2OS_Human0.91488113
114SMAD3_21741376_ChIP-Seq_ESCs_Human0.90339398
115DNAJC2_21179169_ChIP-ChIP_NT2_Human0.90208011
116* PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.89991531
117* E2F1_18555785_Chip-Seq_ESCs_Mouse0.89513048
118SMAD4_21741376_ChIP-Seq_EPCs_Human0.88859364
119KDM2B_26808549_Chip-Seq_REH_Human0.88367592
120* CMYC_18555785_Chip-Seq_ESCs_Mouse0.87773033
121CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.87761767

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.69509080
2MP0003880_abnormal_central_pattern5.29324334
3* MP0003635_abnormal_synaptic_transmissio4.00139502
4MP0004270_analgesia3.88729472
5* MP0009046_muscle_twitch3.53300349
6* MP0009745_abnormal_behavioral_response3.46837786
7* MP0002064_seizures3.38239997
8MP0002063_abnormal_learning/memory/cond3.13687759
9MP0001968_abnormal_touch/_nociception3.09765194
10* MP0002272_abnormal_nervous_system2.97820358
11MP0001486_abnormal_startle_reflex2.83608254
12* MP0002572_abnormal_emotion/affect_behav2.80725122
13MP0002734_abnormal_mechanical_nocicepti2.75581572
14MP0000569_abnormal_digit_pigmentation2.59160479
15MP0002822_catalepsy2.59001021
16MP0005423_abnormal_somatic_nervous2.47024781
17MP0002736_abnormal_nociception_after2.46772207
18MP0002735_abnormal_chemical_nociception2.33845677
19MP0001501_abnormal_sleep_pattern2.29524725
20MP0001440_abnormal_grooming_behavior2.24330803
21* MP0002067_abnormal_sensory_capabilities2.19011023
22MP0008569_lethality_at_weaning2.13488520
23MP0008877_abnormal_DNA_methylation2.01944734
24MP0002733_abnormal_thermal_nociception1.99483925
25MP0001970_abnormal_pain_threshold1.99004771
26MP0003329_amyloid_beta_deposits1.96693180
27MP0000778_abnormal_nervous_system1.84511378
28MP0001529_abnormal_vocalization1.76496659
29* MP0005386_behavior/neurological_phenoty1.76097197
30* MP0004924_abnormal_behavior1.76097197
31MP0002184_abnormal_innervation1.75127791
32MP0000920_abnormal_myelination1.72685274
33MP0004142_abnormal_muscle_tone1.68582389
34MP0002557_abnormal_social/conspecific_i1.65434917
35MP0009780_abnormal_chondrocyte_physiolo1.59609689
36MP0004885_abnormal_endolymph1.58701958
37MP0001905_abnormal_dopamine_level1.54865301
38MP0001984_abnormal_olfaction1.54778050
39MP0005646_abnormal_pituitary_gland1.54105123
40MP0003879_abnormal_hair_cell1.52721196
41* MP0002066_abnormal_motor_capabilities/c1.51540105
42MP0004811_abnormal_neuron_physiology1.51364995
43MP0004742_abnormal_vestibular_system1.50012032
44* MP0000955_abnormal_spinal_cord1.49512303
45* MP0002882_abnormal_neuron_morphology1.43505186
46MP0006276_abnormal_autonomic_nervous1.41891435
47MP0003633_abnormal_nervous_system1.39158271
48MP0004145_abnormal_muscle_electrophysio1.32536277
49MP0001188_hyperpigmentation1.31390304
50MP0003631_nervous_system_phenotype1.27937090
51MP0002102_abnormal_ear_morphology1.27207645
52MP0003787_abnormal_imprinting1.26125194
53MP0003690_abnormal_glial_cell1.26078526
54MP0002638_abnormal_pupillary_reflex1.25611466
55MP0002229_neurodegeneration1.23039043
56MP0001502_abnormal_circadian_rhythm1.15607946
57MP0001485_abnormal_pinna_reflex1.13268959
58MP0002909_abnormal_adrenal_gland1.11611488
59MP0003632_abnormal_nervous_system1.11591069
60MP0005171_absent_coat_pigmentation1.10617967
61MP0003646_muscle_fatigue1.09304591
62MP0004858_abnormal_nervous_system1.07343137
63* MP0002152_abnormal_brain_morphology1.06266223
64MP0001963_abnormal_hearing_physiology1.03938560
65MP0003634_abnormal_glial_cell1.03518805
66* MP0005551_abnormal_eye_electrophysiolog1.00348851
67MP0008872_abnormal_physiological_respon0.99459724
68MP0003121_genomic_imprinting0.98324579
69MP0005253_abnormal_eye_physiology0.97343972
70MP0003195_calcinosis0.96986100
71MP0005187_abnormal_penis_morphology0.94204334
72MP0005645_abnormal_hypothalamus_physiol0.93690440
73MP0005409_darkened_coat_color0.93622945
74MP0008874_decreased_physiological_sensi0.93245069
75MP0004043_abnormal_pH_regulation0.90936384
76MP0001177_atelectasis0.90412090
77MP0003122_maternal_imprinting0.90207982
78MP0002837_dystrophic_cardiac_calcinosis0.86488091
79MP0000604_amyloidosis0.86234333
80MP0000751_myopathy0.85421067
81MP0002069_abnormal_eating/drinking_beha0.84963850
82MP0008875_abnormal_xenobiotic_pharmacok0.84023094
83* MP0002752_abnormal_somatic_nervous0.82938338
84MP0005167_abnormal_blood-brain_barrier0.82556770
85MP0004085_abnormal_heartbeat0.80492559
86MP0004147_increased_porphyrin_level0.80213768
87MP0006072_abnormal_retinal_apoptosis0.80113628
88MP0000013_abnormal_adipose_tissue0.78893342
89MP0005174_abnormal_tail_pigmentation0.76713995
90MP0002160_abnormal_reproductive_system0.76657248
91MP0004215_abnormal_myocardial_fiber0.73308865
92MP0005535_abnormal_body_temperature0.72643631
93MP0010386_abnormal_urinary_bladder0.68951231
94MP0004484_altered_response_of0.68722872
95MP0006292_abnormal_olfactory_placode0.67512920
96MP0000427_abnormal_hair_cycle0.66974990
97MP0002928_abnormal_bile_duct0.63293055
98MP0004130_abnormal_muscle_cell0.63203951
99MP0008057_abnormal_DNA_replication0.63118347
100MP0003137_abnormal_impulse_conducting0.62899997
101MP0002876_abnormal_thyroid_physiology0.62822517
102MP0002090_abnormal_vision0.62128710
103MP0005623_abnormal_meninges_morphology0.62061712
104MP0001664_abnormal_digestion0.61584834
105MP0001943_abnormal_respiration0.60048075
106MP0005410_abnormal_fertilization0.59949064
107MP0001299_abnormal_eye_distance/0.58550941
108* MP0003698_abnormal_male_reproductive0.58316236
109MP0000026_abnormal_inner_ear0.58109468
110MP0005195_abnormal_posterior_eye0.57286182
111MP0005394_taste/olfaction_phenotype0.56727868
112MP0005499_abnormal_olfactory_system0.56727868
113MP0002234_abnormal_pharynx_morphology0.55262883
114MP0010769_abnormal_survival0.54660514
115MP0005389_reproductive_system_phenotype0.54136739
116MP0002082_postnatal_lethality0.54058766
117MP0010770_preweaning_lethality0.54058766
118MP0010768_mortality/aging0.51521030
119* MP0000631_abnormal_neuroendocrine_gland0.51296104
120MP0001986_abnormal_taste_sensitivity0.49369357
121MP0004233_abnormal_muscle_weight0.48616931
122MP0003075_altered_response_to0.48430317
123* MP0003956_abnormal_body_size0.47833405

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)8.25608130
2Myokymia (HP:0002411)6.01768260
3Focal seizures (HP:0007359)5.73778562
4Atonic seizures (HP:0010819)5.70115593
5Epileptic encephalopathy (HP:0200134)5.34066518
6Febrile seizures (HP:0002373)4.72836661
7Progressive cerebellar ataxia (HP:0002073)4.48746719
8Hyperventilation (HP:0002883)4.41862415
9Absence seizures (HP:0002121)4.38557407
10Visual hallucinations (HP:0002367)4.34037700
11Broad-based gait (HP:0002136)4.18593887
12Dialeptic seizures (HP:0011146)4.14288080
13Action tremor (HP:0002345)3.95998236
14Generalized tonic-clonic seizures (HP:0002069)3.79912687
15Scanning speech (HP:0002168)3.75873258
16Dysmetria (HP:0001310)3.56787123
17* Gaze-evoked nystagmus (HP:0000640)3.56171015
18Dysdiadochokinesis (HP:0002075)3.49530187
19Truncal ataxia (HP:0002078)3.29303812
20Poor eye contact (HP:0000817)3.28009021
21Supranuclear gaze palsy (HP:0000605)3.21026341
22Abnormality of the corticospinal tract (HP:0002492)3.19484487
23Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)3.18914334
24Degeneration of the lateral corticospinal tracts (HP:0002314)3.18914334
25Neurofibrillary tangles (HP:0002185)3.02441546
26Intention tremor (HP:0002080)3.01193535
27Ankle clonus (HP:0011448)3.00247152
28Spastic gait (HP:0002064)2.99153789
29Abnormal social behavior (HP:0012433)2.93413992
30Impaired social interactions (HP:0000735)2.93413992
31Impaired vibration sensation in the lower limbs (HP:0002166)2.92045359
32Termporal pattern (HP:0011008)2.80606329
33Insidious onset (HP:0003587)2.80606329
34Urinary bladder sphincter dysfunction (HP:0002839)2.75299451
35Pancreatic cysts (HP:0001737)2.74836019
36Abnormal eating behavior (HP:0100738)2.73702764
37Anxiety (HP:0000739)2.72354771
38Sensory axonal neuropathy (HP:0003390)2.71203200
39Absent speech (HP:0001344)2.67891086
40Progressive inability to walk (HP:0002505)2.67612295
41Cerebral inclusion bodies (HP:0100314)2.65265394
42Depression (HP:0000716)2.63915149
43Amblyopia (HP:0000646)2.63463336
44Hemiparesis (HP:0001269)2.62391523
45Impaired smooth pursuit (HP:0007772)2.61763287
46Drooling (HP:0002307)2.59002121
47Excessive salivation (HP:0003781)2.59002121
48Nephronophthisis (HP:0000090)2.58408727
49Pheochromocytoma (HP:0002666)2.57950225
50Dysmetric saccades (HP:0000641)2.56652275
51Pancreatic fibrosis (HP:0100732)2.54947235
52Abnormality of binocular vision (HP:0011514)2.53653546
53Diplopia (HP:0000651)2.53653546
54Postural instability (HP:0002172)2.50450179
55Congenital stationary night blindness (HP:0007642)2.50419952
56Abnormality of midbrain morphology (HP:0002418)2.49674131
57Molar tooth sign on MRI (HP:0002419)2.49674131
58Epileptiform EEG discharges (HP:0011182)2.48313587
59Type II lissencephaly (HP:0007260)2.46367141
60Fetal akinesia sequence (HP:0001989)2.46340699
61Generalized myoclonic seizures (HP:0002123)2.39814624
62Genetic anticipation (HP:0003743)2.38834330
63True hermaphroditism (HP:0010459)2.38133033
64Urinary urgency (HP:0000012)2.37917714
65Inability to walk (HP:0002540)2.37775639
66Status epilepticus (HP:0002133)2.33434969
67Hemiplegia (HP:0002301)2.30427099
68Blue irides (HP:0000635)2.29176932
69Neuroendocrine neoplasm (HP:0100634)2.28668441
70EEG with generalized epileptiform discharges (HP:0011198)2.28472584
71Abnormality of ocular smooth pursuit (HP:0000617)2.27735616
72Abnormality of the renal medulla (HP:0100957)2.27715105
73Stereotypic behavior (HP:0000733)2.24822892
74Dyskinesia (HP:0100660)2.21023946
75Akinesia (HP:0002304)2.19960194
76Peripheral hypomyelination (HP:0007182)2.19255203
77Abnormality of saccadic eye movements (HP:0000570)2.14225478
78Abnormality of the renal cortex (HP:0011035)2.13346739
79Clumsiness (HP:0002312)2.12825881
80Hypsarrhythmia (HP:0002521)2.11888901
81Gait ataxia (HP:0002066)2.11756015
82Thickened helices (HP:0000391)2.11402416
83Lower limb muscle weakness (HP:0007340)2.10673287
84Impaired vibratory sensation (HP:0002495)2.10023017
85Protruding tongue (HP:0010808)2.09931211
86Bradykinesia (HP:0002067)2.06766739
87Polydipsia (HP:0001959)2.06469137
88Abnormal drinking behavior (HP:0030082)2.06469137
89Limb dystonia (HP:0002451)2.05400165
90Decreased central vision (HP:0007663)2.05120989
91Lissencephaly (HP:0001339)2.05111992
92Gait imbalance (HP:0002141)2.04630705
93Attenuation of retinal blood vessels (HP:0007843)2.03180229
94Mutism (HP:0002300)2.01503464
95Torticollis (HP:0000473)2.01348254
96Nephrogenic diabetes insipidus (HP:0009806)1.95257940
97Focal dystonia (HP:0004373)1.94914543
98Specific learning disability (HP:0001328)1.94572871
99Morphological abnormality of the pyramidal tract (HP:0002062)1.93671649
100Cystic liver disease (HP:0006706)1.92828366
101Abnormal hair whorl (HP:0010721)1.92747672
102Generalized hypopigmentation of hair (HP:0011358)1.92019587
103Polyphagia (HP:0002591)1.91915278
104Retinal dysplasia (HP:0007973)1.89178248
105Megalencephaly (HP:0001355)1.88602775
106Inappropriate behavior (HP:0000719)1.88601525
107Incomplete penetrance (HP:0003829)1.87214166
108Genital tract atresia (HP:0001827)1.86236760
109Postural tremor (HP:0002174)1.83910437
110Neuronal loss in central nervous system (HP:0002529)1.83676351
111Psychosis (HP:0000709)1.82763938
112Clonus (HP:0002169)1.82721193
113Cerebral hypomyelination (HP:0006808)1.82246838
114Amyotrophic lateral sclerosis (HP:0007354)1.81330328
115Agitation (HP:0000713)1.81041017
116Abnormality of salivation (HP:0100755)1.80456584
117Vaginal atresia (HP:0000148)1.79526356
118Widely spaced teeth (HP:0000687)1.77584623
119Congenital primary aphakia (HP:0007707)1.77349763
120Prolonged QT interval (HP:0001657)1.76618231
121Medial flaring of the eyebrow (HP:0010747)1.76582763
122Abnormality of the lower motor neuron (HP:0002366)1.75610623
123Chronic hepatic failure (HP:0100626)1.75585327
124Abolished electroretinogram (ERG) (HP:0000550)1.75447480
125Aplasia/Hypoplasia of the tibia (HP:0005772)1.73272422
126Dynein arm defect of respiratory motile cilia (HP:0012255)1.73102645
127Absent/shortened dynein arms (HP:0200106)1.73102645
128Fair hair (HP:0002286)1.72813638
129Spastic tetraplegia (HP:0002510)1.71022895
130Papilledema (HP:0001085)1.70271409
131Craniofacial dystonia (HP:0012179)1.69610384
132Abnormality of the labia minora (HP:0012880)1.68162976

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK4.53523712
2EPHA44.06709126
3NTRK33.81959887
4CASK3.50938699
5MAP3K92.90193454
6CDK192.83208097
7MAP3K42.80721938
8OXSR12.59327921
9MAP2K72.53182588
10DAPK22.39305007
11TNIK2.12557306
12MINK12.10466796
13MAP3K122.07875456
14PAK62.07586348
15PRPF4B2.05363238
16STK392.03194686
17MARK11.98959606
18RIPK41.86831770
19CAMKK21.83286786
20PNCK1.79733396
21MAP2K41.78317556
22NTRK21.64242998
23NTRK11.62151947
24PLK21.58369411
25MAP4K21.54234481
26ADRBK21.52970964
27KSR21.47854907
28CDK51.47482812
29CAMKK11.42957153
30DAPK11.35781626
31BMPR1B1.32536855
32GRK51.26657623
33SGK4941.22918938
34SGK2231.22918938
35ARAF1.20577429
36GRK11.19810878
37KSR11.18926057
38WNK11.18248843
39CAMK2B1.17384070
40MAPK131.17094416
41UHMK11.16969621
42BCR1.14934801
43PRKCG1.14562962
44CAMK2A1.13899204
45MAP3K131.09268319
46AKT31.04438941
47INSRR0.99798633
48CDK180.99206843
49CCNB10.98541653
50FES0.97479178
51SIK20.96664829
52BMPR20.96614523
53CDK150.96592769
54CDK140.96267543
55TYRO30.92229941
56MKNK20.89489188
57PRKD30.88909687
58NEK60.88895440
59SGK20.87552689
60STK110.86603107
61CSNK1A1L0.86212722
62CDK11A0.83614372
63ACVR1B0.83575692
64CAMK10.80564255
65CAMK2D0.80485142
66WNK40.80376015
67MAP3K20.79745027
68PTK2B0.79060419
69FGFR20.78524929
70CSNK1G20.77954304
71MAPKAPK50.74700102
72PKN10.74541646
73SGK10.72932593
74ROCK20.72145738
75TAOK30.71763852
76CAMK2G0.71352945
77MUSK0.71333882
78STK380.71265686
79PDPK10.70158526
80PRKCH0.69399001
81DYRK20.68573113
82PRKCE0.68518811
83PAK30.67287192
84ADRBK10.66446920
85CSNK1G10.65988223
86FGR0.64481644
87PDK10.63954508
88SGK30.62673925
89DYRK1A0.61272970
90NUAK10.60909481
91MARK20.59995997
92PINK10.59255582
93ZAK0.58392377
94PHKG20.56307776
95PHKG10.56307776
96SIK30.53635291
97PIK3CA0.52812895
98RET0.52221828
99RAF10.51861310
100TRIM280.51341046
101TNK20.50573095
102CAMK1D0.50283263
103FYN0.47808084
104PRKCA0.42270755
105RPS6KA30.41833699
106BRAF0.41832219
107DAPK30.41715222
108CAMK1G0.40527875
109CAMK40.40326954
110ERBB20.39928019
111PRKCB0.39192882
112MAP3K10.39099336
113WNK30.38607598
114PRKAA10.38332117
115PRKG10.37554600
116CSNK1G30.37016710
117PRKACA0.36910350
118MAPK70.36905625
119PRKCQ0.36260717
120MAPK100.35444023
121PRKCZ0.34640907
122MAPK120.33335607
123TXK0.32743475
124CSNK1A10.32387265

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.01145210
2Synaptic vesicle cycle_Homo sapiens_hsa047213.40003164
3Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.92008339
4GABAergic synapse_Homo sapiens_hsa047272.83674041
5Glutamatergic synapse_Homo sapiens_hsa047242.78479320
6Long-term potentiation_Homo sapiens_hsa047202.66670584
7Circadian entrainment_Homo sapiens_hsa047132.65515106
8Morphine addiction_Homo sapiens_hsa050322.65071366
9Amphetamine addiction_Homo sapiens_hsa050312.42950906
10Olfactory transduction_Homo sapiens_hsa047402.42076458
11Salivary secretion_Homo sapiens_hsa049702.20329561
12Dopaminergic synapse_Homo sapiens_hsa047282.13292931
13Collecting duct acid secretion_Homo sapiens_hsa049662.09509811
14Long-term depression_Homo sapiens_hsa047301.98099598
15Taste transduction_Homo sapiens_hsa047421.97253363
16Serotonergic synapse_Homo sapiens_hsa047261.86778713
17Insulin secretion_Homo sapiens_hsa049111.81498993
18Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.80578099
19Gastric acid secretion_Homo sapiens_hsa049711.80260395
20Cholinergic synapse_Homo sapiens_hsa047251.76296832
21Renin secretion_Homo sapiens_hsa049241.69396918
22Aldosterone synthesis and secretion_Homo sapiens_hsa049251.62444548
23Cocaine addiction_Homo sapiens_hsa050301.57358512
24Calcium signaling pathway_Homo sapiens_hsa040201.57121004
25* Oxytocin signaling pathway_Homo sapiens_hsa049211.50848448
26Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.44894551
27* Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.43589132
28Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.27436535
29Vibrio cholerae infection_Homo sapiens_hsa051101.27144850
30Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.24934375
31GnRH signaling pathway_Homo sapiens_hsa049121.23590981
32Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.23322012
33Axon guidance_Homo sapiens_hsa043601.22907362
34cAMP signaling pathway_Homo sapiens_hsa040241.22546664
35Gap junction_Homo sapiens_hsa045401.22127917
36Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.17356033
37Phosphatidylinositol signaling system_Homo sapiens_hsa040701.16733209
38Linoleic acid metabolism_Homo sapiens_hsa005911.12942254
39alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.11065751
40Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.07345046
41Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.05226621
42* Cardiac muscle contraction_Homo sapiens_hsa042601.00635021
43ErbB signaling pathway_Homo sapiens_hsa040120.98533937
44Oxidative phosphorylation_Homo sapiens_hsa001900.97772802
45Vascular smooth muscle contraction_Homo sapiens_hsa042700.97037001
46Pancreatic secretion_Homo sapiens_hsa049720.95042947
47Estrogen signaling pathway_Homo sapiens_hsa049150.94753305
48cGMP-PKG signaling pathway_Homo sapiens_hsa040220.93982762
49Type II diabetes mellitus_Homo sapiens_hsa049300.92489606
50Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.90353691
51Alzheimers disease_Homo sapiens_hsa050100.89619313
52Phototransduction_Homo sapiens_hsa047440.88956692
53ABC transporters_Homo sapiens_hsa020100.87906638
54Melanogenesis_Homo sapiens_hsa049160.85571261
55Phospholipase D signaling pathway_Homo sapiens_hsa040720.79089378
56Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.75411999
57Glioma_Homo sapiens_hsa052140.74929456
58Dorso-ventral axis formation_Homo sapiens_hsa043200.72175234
59Fatty acid biosynthesis_Homo sapiens_hsa000610.70857991
60Thyroid hormone synthesis_Homo sapiens_hsa049180.70091870
61Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.69171252
62Regulation of autophagy_Homo sapiens_hsa041400.68157812
63Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.67878190
64Oocyte meiosis_Homo sapiens_hsa041140.67421015
65Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.67400387
66Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.66570431
67* MAPK signaling pathway_Homo sapiens_hsa040100.65884106
68Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.64083615
69Choline metabolism in cancer_Homo sapiens_hsa052310.63737164
70Histidine metabolism_Homo sapiens_hsa003400.62911926
71Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.61653487
72Ras signaling pathway_Homo sapiens_hsa040140.61243723
73Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.60118108
74Parkinsons disease_Homo sapiens_hsa050120.60105547
75Ether lipid metabolism_Homo sapiens_hsa005650.58398466
76Rheumatoid arthritis_Homo sapiens_hsa053230.55372321
77Sphingolipid signaling pathway_Homo sapiens_hsa040710.54727363
78Inositol phosphate metabolism_Homo sapiens_hsa005620.54724461
79Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.52969933
80Tryptophan metabolism_Homo sapiens_hsa003800.52706024
81beta-Alanine metabolism_Homo sapiens_hsa004100.50749455
82Butanoate metabolism_Homo sapiens_hsa006500.50658378
83SNARE interactions in vesicular transport_Homo sapiens_hsa041300.49940200
84* Dilated cardiomyopathy_Homo sapiens_hsa054140.49817071
85Type I diabetes mellitus_Homo sapiens_hsa049400.48881305
86Nitrogen metabolism_Homo sapiens_hsa009100.48760228
87Glycerolipid metabolism_Homo sapiens_hsa005610.48017197
88Rap1 signaling pathway_Homo sapiens_hsa040150.47057259
89Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.46871530
90Endocytosis_Homo sapiens_hsa041440.45315533
91Alcoholism_Homo sapiens_hsa050340.45057210
92Circadian rhythm_Homo sapiens_hsa047100.44295744
93Renal cell carcinoma_Homo sapiens_hsa052110.43166310
94Ovarian steroidogenesis_Homo sapiens_hsa049130.41383800
95African trypanosomiasis_Homo sapiens_hsa051430.40867512
96VEGF signaling pathway_Homo sapiens_hsa043700.37673781
97Primary bile acid biosynthesis_Homo sapiens_hsa001200.37056715
98Mineral absorption_Homo sapiens_hsa049780.35882491
99Fatty acid elongation_Homo sapiens_hsa000620.35496051
100Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.35315779
101Glycerophospholipid metabolism_Homo sapiens_hsa005640.35001338
102Bile secretion_Homo sapiens_hsa049760.32764731
103Wnt signaling pathway_Homo sapiens_hsa043100.32687506
104Carbohydrate digestion and absorption_Homo sapiens_hsa049730.32081027
105Huntingtons disease_Homo sapiens_hsa050160.31754746
106Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.31425893
107Neurotrophin signaling pathway_Homo sapiens_hsa047220.30984394
108Glucagon signaling pathway_Homo sapiens_hsa049220.30564956
109Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.29466801
110Chemokine signaling pathway_Homo sapiens_hsa040620.26826256
111Steroid hormone biosynthesis_Homo sapiens_hsa001400.26136510
112Tight junction_Homo sapiens_hsa045300.25284623
113Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.24617786
114Phagosome_Homo sapiens_hsa041450.24343648
115Propanoate metabolism_Homo sapiens_hsa006400.24304741
116Maturity onset diabetes of the young_Homo sapiens_hsa049500.24121502
117Prion diseases_Homo sapiens_hsa050200.23684728
118Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.23487205
119Caffeine metabolism_Homo sapiens_hsa002320.23467389
120Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.20183430
121Peroxisome_Homo sapiens_hsa041460.17267690

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