CACNA1B

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: The protein encoded by this gene is the pore-forming subunit of an N-type voltage-dependent calcium channel, which controls neurotransmitter release from neurons. The encoded protein forms a complex with alpha-2, beta, and delta subunits to form the high-voltage activated channel. This channel is sensitive to omega-conotoxin-GVIA and omega-agatoxin-IIIA but insensitive to dihydropyridines. Two transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)6.09676103
2vocalization behavior (GO:0071625)5.87698759
3positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.48574973
4synaptic vesicle maturation (GO:0016188)5.43109844
5locomotory exploration behavior (GO:0035641)5.38631381
6regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.38541776
7positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.35971524
8neuron cell-cell adhesion (GO:0007158)5.27639320
9synaptic vesicle exocytosis (GO:0016079)5.24723600
10regulation of glutamate receptor signaling pathway (GO:1900449)4.99100897
11ionotropic glutamate receptor signaling pathway (GO:0035235)4.97308895
12protein localization to synapse (GO:0035418)4.92130548
13regulation of synaptic vesicle exocytosis (GO:2000300)4.87477161
14glutamate secretion (GO:0014047)4.86049676
15cerebellar granule cell differentiation (GO:0021707)4.79811909
16synaptic vesicle docking involved in exocytosis (GO:0016081)4.60046084
17exploration behavior (GO:0035640)4.46739299
18layer formation in cerebral cortex (GO:0021819)4.38395204
19glutamate receptor signaling pathway (GO:0007215)4.38230255
20regulation of synaptic vesicle transport (GO:1902803)4.33209671
21synaptic transmission, glutamatergic (GO:0035249)4.28463748
22* neurotransmitter secretion (GO:0007269)4.27327578
23regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.26591360
24proline transport (GO:0015824)4.23983639
25regulation of long-term neuronal synaptic plasticity (GO:0048169)4.23178476
26regulation of neuronal synaptic plasticity (GO:0048168)4.19294825
27neuron recognition (GO:0008038)4.17472150
28dendritic spine morphogenesis (GO:0060997)4.17292298
29neuronal action potential propagation (GO:0019227)4.15664197
30positive regulation of synaptic transmission, dopaminergic (GO:0032226)4.06009125
31neuron-neuron synaptic transmission (GO:0007270)4.04002810
32regulation of synapse structural plasticity (GO:0051823)4.03011678
33neurotransmitter-gated ion channel clustering (GO:0072578)3.92608310
34axonal fasciculation (GO:0007413)3.89372937
35gamma-aminobutyric acid transport (GO:0015812)3.83735621
36regulation of excitatory postsynaptic membrane potential (GO:0060079)3.79400870
37regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.77242786
38positive regulation of synapse maturation (GO:0090129)3.70414662
39L-amino acid import (GO:0043092)3.68661413
40transmission of nerve impulse (GO:0019226)3.68600194
41long-term memory (GO:0007616)3.68120055
42positive regulation of membrane potential (GO:0045838)3.67605003
43regulation of postsynaptic membrane potential (GO:0060078)3.65639405
44membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.62524546
45neuromuscular synaptic transmission (GO:0007274)3.62025150
46postsynaptic membrane organization (GO:0001941)3.60589499
47* neurotransmitter transport (GO:0006836)3.56381964
48cell differentiation in hindbrain (GO:0021533)3.52268107
49synaptic vesicle endocytosis (GO:0048488)3.48580779
50cerebellar Purkinje cell differentiation (GO:0021702)3.46759363
51positive regulation of synaptic transmission, GABAergic (GO:0032230)3.45969598
52positive regulation of dendritic spine morphogenesis (GO:0061003)3.44653818
53regulation of neurotransmitter secretion (GO:0046928)3.41176983
54dendrite morphogenesis (GO:0048813)3.40371996
55regulation of synaptic transmission, glutamatergic (GO:0051966)3.40013685
56gamma-aminobutyric acid signaling pathway (GO:0007214)3.38177378
57negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.37380815
58regulation of synaptic plasticity (GO:0048167)3.37002884
59positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.36903596
60cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.36857757
61regulation of dendritic spine morphogenesis (GO:0061001)3.35241212
62auditory behavior (GO:0031223)3.34109875
63cellular potassium ion homeostasis (GO:0030007)3.33997497
64cell migration in hindbrain (GO:0021535)3.32950314
65regulation of vesicle fusion (GO:0031338)3.32776993
66presynaptic membrane assembly (GO:0097105)3.32503139
67regulation of ARF protein signal transduction (GO:0032012)3.31396857
68activation of protein kinase A activity (GO:0034199)3.31066348
69positive regulation of neurotransmitter secretion (GO:0001956)3.29609857
70* regulation of neurotransmitter levels (GO:0001505)3.29086335
71synapse assembly (GO:0007416)3.27929922
72regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.26633123
73negative regulation of synaptic transmission, GABAergic (GO:0032229)3.26268760
74potassium ion homeostasis (GO:0055075)3.24576255
75neuromuscular process controlling balance (GO:0050885)3.24092995
76regulation of voltage-gated calcium channel activity (GO:1901385)3.23125391
77response to auditory stimulus (GO:0010996)3.22023940
78neuronal ion channel clustering (GO:0045161)3.21902577
79establishment of mitochondrion localization (GO:0051654)3.21099928
80positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.20609102
81G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.20181225
82chemosensory behavior (GO:0007635)3.20032828
83amino acid import (GO:0043090)3.19205120
84negative regulation of dendrite morphogenesis (GO:0050774)3.18830808
85positive regulation of neurotransmitter transport (GO:0051590)3.18797574
86* membrane depolarization (GO:0051899)3.18381313
87prepulse inhibition (GO:0060134)3.17637226
88response to histamine (GO:0034776)3.17622793
89long-term synaptic potentiation (GO:0060291)3.16533801
90membrane hyperpolarization (GO:0060081)3.16080751
91regulation of neurotransmitter transport (GO:0051588)3.15741239
92innervation (GO:0060384)3.14579616
93adult walking behavior (GO:0007628)3.13817148
94learning (GO:0007612)3.12628979
95* membrane depolarization during action potential (GO:0086010)3.11919110
96mechanosensory behavior (GO:0007638)3.10401387
97presynaptic membrane organization (GO:0097090)3.10083964
98cell communication by electrical coupling (GO:0010644)3.08848834
99social behavior (GO:0035176)3.08469641
100intraspecies interaction between organisms (GO:0051703)3.08469641
101G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.08320618
102behavioral defense response (GO:0002209)3.04760287
103behavioral fear response (GO:0001662)3.04760287
104neuromuscular process controlling posture (GO:0050884)3.04183995
105mitochondrion transport along microtubule (GO:0047497)3.02569051
106establishment of mitochondrion localization, microtubule-mediated (GO:0034643)3.02569051
107central nervous system projection neuron axonogenesis (GO:0021952)2.99750190
108neuromuscular process (GO:0050905)2.98630275
109positive regulation of dendritic spine development (GO:0060999)2.98593761
110dendritic spine organization (GO:0097061)2.98280878
111vesicle transport along microtubule (GO:0047496)2.98273413
112potassium ion import (GO:0010107)2.98167076
113cytoskeletal anchoring at plasma membrane (GO:0007016)2.98145154
114regulation of synapse maturation (GO:0090128)2.97746155
115cochlea development (GO:0090102)2.96805483
116* synaptic transmission (GO:0007268)2.96705052
117glycine transport (GO:0015816)2.96112953
118regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.95760679
119mating behavior (GO:0007617)2.95693707
120negative regulation of microtubule polymerization (GO:0031115)2.95640593
121synapse organization (GO:0050808)2.94651329
122sodium ion export (GO:0071436)2.94466062
123axon ensheathment in central nervous system (GO:0032291)2.92940653
124regulation of synaptic transmission (GO:0050804)2.92890144
125fear response (GO:0042596)2.92135144

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* EZH2_22144423_ChIP-Seq_EOC_Human5.68632610
2GBX2_23144817_ChIP-Seq_PC3_Human3.74444248
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.13441022
4JARID2_20064375_ChIP-Seq_MESCs_Mouse3.11429246
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.96848883
6REST_21632747_ChIP-Seq_MESCs_Mouse2.75867715
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.70160745
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.70160745
9JARID2_20075857_ChIP-Seq_MESCs_Mouse2.65532139
10EZH2_27304074_Chip-Seq_ESCs_Mouse2.60280914
11SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.59027156
12SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.52326552
13DROSHA_22980978_ChIP-Seq_HELA_Human2.49936359
14* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.46750945
15MTF2_20144788_ChIP-Seq_MESCs_Mouse2.46346143
16SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.44849644
17RARB_27405468_Chip-Seq_BRAIN_Mouse2.30944304
18EED_16625203_ChIP-ChIP_MESCs_Mouse2.30937215
19SUZ12_27294783_Chip-Seq_ESCs_Mouse2.27568682
20EZH2_27294783_Chip-Seq_ESCs_Mouse2.26485014
21RNF2_27304074_Chip-Seq_ESCs_Mouse2.19093007
22* REST_18959480_ChIP-ChIP_MESCs_Mouse2.16353474
23GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.14157925
24ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.10702753
25NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.09650408
26CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.09002483
27IKZF1_21737484_ChIP-ChIP_HCT116_Human1.93305089
28TAF15_26573619_Chip-Seq_HEK293_Human1.91593101
29CTBP2_25329375_ChIP-Seq_LNCAP_Human1.88006483
30AR_21572438_ChIP-Seq_LNCaP_Human1.80975158
31EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.76374962
32CTBP1_25329375_ChIP-Seq_LNCAP_Human1.74775077
33MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.72573235
34SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.69579177
35SMAD4_21799915_ChIP-Seq_A2780_Human1.67996166
36ZFP57_27257070_Chip-Seq_ESCs_Mouse1.61701133
37PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.58831828
38ERG_21242973_ChIP-ChIP_JURKAT_Human1.56765578
39ZNF274_21170338_ChIP-Seq_K562_Hela1.55631564
40P300_19829295_ChIP-Seq_ESCs_Human1.47208316
41BMI1_23680149_ChIP-Seq_NPCS_Mouse1.45086618
42CBX2_27304074_Chip-Seq_ESCs_Mouse1.42634320
43PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.40000916
44SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.39578747
45SMAD_19615063_ChIP-ChIP_OVARY_Human1.37020792
46SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.35882509
47SMAD3_21741376_ChIP-Seq_EPCs_Human1.35367947
48RING1B_27294783_Chip-Seq_ESCs_Mouse1.34814473
49GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.34436845
50RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.34284647
51IGF1R_20145208_ChIP-Seq_DFB_Human1.34179463
52* SOX2_21211035_ChIP-Seq_LN229_Gbm1.33308594
53NR3C1_23031785_ChIP-Seq_PC12_Mouse1.32963436
54TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.28324313
55TOP2B_26459242_ChIP-Seq_MCF-7_Human1.27735027
56RNF2_27304074_Chip-Seq_NSC_Mouse1.26799083
57STAT3_23295773_ChIP-Seq_U87_Human1.26703224
58THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.26695125
59AR_25329375_ChIP-Seq_VCAP_Human1.26386156
60ZFP281_27345836_Chip-Seq_ESCs_Mouse1.25146300
61CTCF_27219007_Chip-Seq_Bcells_Human1.24699604
62RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.23828599
63* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.23601894
64PIAS1_25552417_ChIP-Seq_VCAP_Human1.22833804
65OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.20261597
66SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.19045124
67* AR_19668381_ChIP-Seq_PC3_Human1.18417984
68GATA1_26923725_Chip-Seq_HPCs_Mouse1.17464894
69* RING1B_27294783_Chip-Seq_NPCs_Mouse1.15109822
70* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.14883011
71TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.14868090
72CDX2_19796622_ChIP-Seq_MESCs_Mouse1.12818028
73P53_22127205_ChIP-Seq_FIBROBLAST_Human1.12715726
74* TCF4_23295773_ChIP-Seq_U87_Human1.12547908
75POU3F2_20337985_ChIP-ChIP_501MEL_Human1.11069059
76ARNT_22903824_ChIP-Seq_MCF-7_Human1.10618413
77* CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.10145633
78AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.09255653
79BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.09205451
80* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.08705881
81YAP1_20516196_ChIP-Seq_MESCs_Mouse1.08579597
82AHR_22903824_ChIP-Seq_MCF-7_Human1.08362552
83TP53_20018659_ChIP-ChIP_R1E_Mouse1.08248013
84ZNF217_24962896_ChIP-Seq_MCF-7_Human1.07983162
85DNAJC2_21179169_ChIP-ChIP_NT2_Human1.04567260
86TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.04333488
87POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.04333488
88MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.02802875
89CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.01855005
90TET1_21490601_ChIP-Seq_MESCs_Mouse1.01500297
91RUNX2_22187159_ChIP-Seq_PCA_Human1.01213591
92PRDM14_20953172_ChIP-Seq_ESCs_Human1.00044317
93NR3C1_21868756_ChIP-Seq_MCF10A_Human0.99467207
94FUS_26573619_Chip-Seq_HEK293_Human0.98710548
95SMAD3_21741376_ChIP-Seq_ESCs_Human0.97723011
96JUN_21703547_ChIP-Seq_K562_Human0.96452825
97UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.96221720
98ER_23166858_ChIP-Seq_MCF-7_Human0.95293353
99VDR_22108803_ChIP-Seq_LS180_Human0.95265216
100TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.94429051
101TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.94274175
102KDM2B_26808549_Chip-Seq_K562_Human0.93116188
103VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.92937048
104RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.92592186
105* SMAD4_21741376_ChIP-Seq_HESCs_Human0.92021153
106TP53_16413492_ChIP-PET_HCT116_Human0.91810608
107* TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.90589604
108TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.90149132
109OCT4_19829295_ChIP-Seq_ESCs_Human0.88809959
110TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.88178818
111WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.87739568
112ZFP281_18757296_ChIP-ChIP_E14_Mouse0.87228615
113LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.87030448
114CTNNB1_20460455_ChIP-Seq_HCT116_Human0.83729818
115EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.83580465
116SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.83149369
117* DPY_21335234_ChIP-Seq_ESCs_Mouse0.81912362
118GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.81788415
119ISL1_27105846_Chip-Seq_CPCs_Mouse0.78711499
120STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.75334564
121KDM2B_26808549_Chip-Seq_REH_Human0.75046152

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.12540574
2MP0003880_abnormal_central_pattern4.82517014
3* MP0003635_abnormal_synaptic_transmissio4.04469834
4MP0004270_analgesia3.80442713
5* MP0009745_abnormal_behavioral_response3.33811644
6MP0001968_abnormal_touch/_nociception3.26737650
7* MP0002063_abnormal_learning/memory/cond3.25850776
8MP0005423_abnormal_somatic_nervous3.24286946
9MP0009046_muscle_twitch3.09022817
10MP0002064_seizures3.07470123
11* MP0002572_abnormal_emotion/affect_behav2.80623837
12* MP0002734_abnormal_mechanical_nocicepti2.74238814
13MP0002822_catalepsy2.73117357
14* MP0002272_abnormal_nervous_system2.56408763
15MP0002736_abnormal_nociception_after2.51504755
16* MP0002735_abnormal_chemical_nociception2.43095286
17* MP0001486_abnormal_startle_reflex2.42968127
18MP0001440_abnormal_grooming_behavior2.21378304
19* MP0002733_abnormal_thermal_nociception2.19062591
20MP0002184_abnormal_innervation2.12938369
21* MP0001501_abnormal_sleep_pattern2.09536772
22* MP0001970_abnormal_pain_threshold2.08412106
23MP0000778_abnormal_nervous_system2.07948506
24* MP0006276_abnormal_autonomic_nervous2.03139325
25MP0004858_abnormal_nervous_system2.01916001
26* MP0002067_abnormal_sensory_capabilities2.01100982
27* MP0002557_abnormal_social/conspecific_i1.84205247
28MP0004924_abnormal_behavior1.83738554
29MP0005386_behavior/neurological_phenoty1.83738554
30MP0004811_abnormal_neuron_physiology1.81643278
31MP0008569_lethality_at_weaning1.73918479
32MP0001984_abnormal_olfaction1.73908958
33MP0003329_amyloid_beta_deposits1.67795712
34MP0003879_abnormal_hair_cell1.67621625
35MP0009780_abnormal_chondrocyte_physiolo1.66311861
36MP0005646_abnormal_pituitary_gland1.65538603
37MP0000955_abnormal_spinal_cord1.63747265
38MP0003787_abnormal_imprinting1.60762122
39MP0002909_abnormal_adrenal_gland1.60541335
40MP0001529_abnormal_vocalization1.58592272
41MP0003123_paternal_imprinting1.52830435
42MP0002882_abnormal_neuron_morphology1.48721364
43* MP0002066_abnormal_motor_capabilities/c1.43404916
44MP0003122_maternal_imprinting1.43236342
45MP0001905_abnormal_dopamine_level1.39435970
46MP0001188_hyperpigmentation1.34588025
47MP0004885_abnormal_endolymph1.33988080
48MP0000569_abnormal_digit_pigmentation1.32920164
49MP0001502_abnormal_circadian_rhythm1.28595401
50* MP0005645_abnormal_hypothalamus_physiol1.26074977
51MP0004142_abnormal_muscle_tone1.24670877
52MP0003633_abnormal_nervous_system1.20460883
53MP0004742_abnormal_vestibular_system1.17670013
54MP0010386_abnormal_urinary_bladder1.17379731
55MP0002152_abnormal_brain_morphology1.15244205
56MP0008877_abnormal_DNA_methylation1.11452589
57MP0003631_nervous_system_phenotype1.07000753
58MP0002638_abnormal_pupillary_reflex1.01787745
59MP0008872_abnormal_physiological_respon1.00059585
60MP0002229_neurodegeneration0.98830055
61MP0005394_taste/olfaction_phenotype0.98662349
62MP0005499_abnormal_olfactory_system0.98662349
63MP0000537_abnormal_urethra_morphology0.98462949
64* MP0002069_abnormal_eating/drinking_beha0.96021736
65MP0000751_myopathy0.88625429
66MP0005167_abnormal_blood-brain_barrier0.88315627
67MP0002752_abnormal_somatic_nervous0.87763815
68MP0000631_abnormal_neuroendocrine_gland0.85632698
69MP0005551_abnormal_eye_electrophysiolog0.85496948
70MP0001963_abnormal_hearing_physiology0.85027937
71MP0008874_decreased_physiological_sensi0.83507587
72MP0003634_abnormal_glial_cell0.82825129
73MP0003632_abnormal_nervous_system0.79784060
74MP0001485_abnormal_pinna_reflex0.79246771
75MP0001177_atelectasis0.78540214
76MP0004145_abnormal_muscle_electrophysio0.78285709
77MP0005535_abnormal_body_temperature0.77474919
78* MP0004085_abnormal_heartbeat0.76849858
79MP0005409_darkened_coat_color0.73153204
80MP0005187_abnormal_penis_morphology0.71446355
81MP0000920_abnormal_myelination0.70122568
82MP0000604_amyloidosis0.69417960
83MP0002876_abnormal_thyroid_physiology0.69343270
84MP0003861_abnormal_nervous_system0.67442807
85MP0001664_abnormal_digestion0.67250223
86MP0001348_abnormal_lacrimal_gland0.66520730
87MP0002751_abnormal_autonomic_nervous0.66471380
88MP0003119_abnormal_digestive_system0.66287789
89MP0003283_abnormal_digestive_organ0.64616011
90MP0004510_myositis0.63001135
91MP0008961_abnormal_basal_metabolism0.62756839
92MP0001299_abnormal_eye_distance/0.62382584
93MP0001986_abnormal_taste_sensitivity0.62111529
94MP0002837_dystrophic_cardiac_calcinosis0.61861080
95MP0002234_abnormal_pharynx_morphology0.61204810
96MP0004133_heterotaxia0.60843409
97MP0003121_genomic_imprinting0.58918036
98MP0003690_abnormal_glial_cell0.58836371
99MP0002249_abnormal_larynx_morphology0.58448580
100MP0001943_abnormal_respiration0.58355290
101MP0001346_abnormal_lacrimal_gland0.56878128
102* MP0010769_abnormal_survival0.55903821
103MP0004147_increased_porphyrin_level0.55735641
104MP0003698_abnormal_male_reproductive0.55626245
105* MP0010770_preweaning_lethality0.55325363
106* MP0002082_postnatal_lethality0.55325363
107MP0003137_abnormal_impulse_conducting0.55257709
108MP0000026_abnormal_inner_ear0.55210474
109MP0003878_abnormal_ear_physiology0.53707875
110MP0005377_hearing/vestibular/ear_phenot0.53707875
111MP0002090_abnormal_vision0.52499609
112* MP0010768_mortality/aging0.52457181
113MP0001944_abnormal_pancreas_morphology0.51673636
114MP0004484_altered_response_of0.51605017
115MP0004130_abnormal_muscle_cell0.50488115
116MP0004215_abnormal_myocardial_fiber0.50449933
117MP0000013_abnormal_adipose_tissue0.48985703

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.31163812
2Myokymia (HP:0002411)6.52198890
3Focal seizures (HP:0007359)5.83384130
4Visual hallucinations (HP:0002367)4.97654204
5Epileptic encephalopathy (HP:0200134)4.68651408
6Febrile seizures (HP:0002373)4.57398567
7Atonic seizures (HP:0010819)4.48182560
8Progressive cerebellar ataxia (HP:0002073)4.34458988
9Absence seizures (HP:0002121)4.07870709
10Supranuclear gaze palsy (HP:0000605)3.90158025
11Generalized tonic-clonic seizures (HP:0002069)3.81575743
12Dialeptic seizures (HP:0011146)3.74505969
13Action tremor (HP:0002345)3.70429193
14Broad-based gait (HP:0002136)3.62265664
15Ankle clonus (HP:0011448)3.48811321
16Poor eye contact (HP:0000817)3.27975862
17Hyperventilation (HP:0002883)3.22619716
18Mutism (HP:0002300)3.22447133
19Impaired vibration sensation in the lower limbs (HP:0002166)3.16348762
20Gaze-evoked nystagmus (HP:0000640)3.13659192
21Urinary bladder sphincter dysfunction (HP:0002839)3.13032695
22Amblyopia (HP:0000646)3.11878553
23Obstructive sleep apnea (HP:0002870)3.09108311
24Limb dystonia (HP:0002451)3.02681273
25Impaired social interactions (HP:0000735)3.00718127
26Abnormal social behavior (HP:0012433)3.00718127
27Truncal ataxia (HP:0002078)2.99196190
28Depression (HP:0000716)2.96599773
29Drooling (HP:0002307)2.96292930
30Excessive salivation (HP:0003781)2.96292930
31Abnormality of the corticospinal tract (HP:0002492)2.92766544
32Abnormal eating behavior (HP:0100738)2.84564007
33Progressive inability to walk (HP:0002505)2.83519905
34Dysmetria (HP:0001310)2.79990629
35Anxiety (HP:0000739)2.79545512
36Dysdiadochokinesis (HP:0002075)2.79156484
37Papilledema (HP:0001085)2.78726083
38Urinary urgency (HP:0000012)2.73528287
39Insidious onset (HP:0003587)2.70637193
40Termporal pattern (HP:0011008)2.70637193
41Genetic anticipation (HP:0003743)2.69682036
42Spastic gait (HP:0002064)2.67447281
43Cerebral inclusion bodies (HP:0100314)2.66636299
44Neurofibrillary tangles (HP:0002185)2.65225759
45Hemiparesis (HP:0001269)2.63763191
46Postural instability (HP:0002172)2.62740010
47Epileptiform EEG discharges (HP:0011182)2.52203028
48Impaired smooth pursuit (HP:0007772)2.51356452
49Abnormality of binocular vision (HP:0011514)2.50743570
50Diplopia (HP:0000651)2.50743570
51Polyphagia (HP:0002591)2.50204567
52Fetal akinesia sequence (HP:0001989)2.46566180
53Pheochromocytoma (HP:0002666)2.46314001
54EEG with generalized epileptiform discharges (HP:0011198)2.43729996
55Torticollis (HP:0000473)2.42160195
56Absent speech (HP:0001344)2.40412335
57Stereotypic behavior (HP:0000733)2.39369539
58Annular pancreas (HP:0001734)2.38811782
59Abnormality of the lower motor neuron (HP:0002366)2.34441773
60Bradykinesia (HP:0002067)2.32500468
61Sleep apnea (HP:0010535)2.31544661
62Hypsarrhythmia (HP:0002521)2.31160888
63Dysmetric saccades (HP:0000641)2.28933170
64Agitation (HP:0000713)2.27907182
65Scanning speech (HP:0002168)2.24215917
66Inability to walk (HP:0002540)2.24006608
67Focal dystonia (HP:0004373)2.22728587
68Lower limb muscle weakness (HP:0007340)2.22672763
69Amyotrophic lateral sclerosis (HP:0007354)2.22079198
70Akinesia (HP:0002304)2.20801704
71Abnormality of ocular smooth pursuit (HP:0000617)2.20779182
72Protruding tongue (HP:0010808)2.19638500
73Tetraplegia (HP:0002445)2.14015992
74Inappropriate behavior (HP:0000719)2.11347857
75Intention tremor (HP:0002080)2.10619423
76Neuroendocrine neoplasm (HP:0100634)2.07789907
77Abnormality of salivation (HP:0100755)2.05082686
78Hemiplegia (HP:0002301)2.03021172
79Failure to thrive in infancy (HP:0001531)2.02729465
80Bronchomalacia (HP:0002780)2.02361191
81Spastic tetraparesis (HP:0001285)2.01268102
82Cerebral hypomyelination (HP:0006808)2.00894612
83Impaired vibratory sensation (HP:0002495)2.00812076
84Hypoventilation (HP:0002791)2.00772189
85Craniofacial dystonia (HP:0012179)2.00698551
86Aplasia/Hypoplasia of the brainstem (HP:0007362)2.00302642
87Hypoplasia of the brainstem (HP:0002365)2.00302642
88Status epilepticus (HP:0002133)1.96562698
89Blue irides (HP:0000635)1.90890534
90Gait imbalance (HP:0002141)1.90849853
91Neuronal loss in central nervous system (HP:0002529)1.90365106
92Generalized myoclonic seizures (HP:0002123)1.88714743
93Insomnia (HP:0100785)1.88695698
94Psychosis (HP:0000709)1.88164498
95Specific learning disability (HP:0001328)1.87647011
96Gait ataxia (HP:0002066)1.85402772
97Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.84865242
98Degeneration of the lateral corticospinal tracts (HP:0002314)1.84865242
99Megalencephaly (HP:0001355)1.83512123
100Ventricular fibrillation (HP:0001663)1.82810174
101Prolonged QT interval (HP:0001657)1.82222999
102Exotropia (HP:0000577)1.82134101
103Clonus (HP:0002169)1.81704521
104Morphological abnormality of the pyramidal tract (HP:0002062)1.81229165
105Lower limb amyotrophy (HP:0007210)1.80942900
106Incomplete penetrance (HP:0003829)1.79792175
107Aqueductal stenosis (HP:0002410)1.78378271
108Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.77402932
109Pointed chin (HP:0000307)1.76912290
110Abnormality of saccadic eye movements (HP:0000570)1.74694613
111Hepatoblastoma (HP:0002884)1.74122568
112Peripheral hypomyelination (HP:0007182)1.68260536
113Turricephaly (HP:0000262)1.66772059
114Choreoathetosis (HP:0001266)1.62971966
115Rigidity (HP:0002063)1.62728831
116Apathy (HP:0000741)1.62383684
117Spastic tetraplegia (HP:0002510)1.62340685
118Hypoplasia of the corpus callosum (HP:0002079)1.61019788
119Abnormal EKG (HP:0003115)1.58288135
120Delusions (HP:0000746)1.51880336
121Macroorchidism (HP:0000053)1.48843389
122Sporadic (HP:0003745)1.48499860

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.56931299
2MARK14.17035487
3MAP3K93.75833889
4EPHA43.63752188
5MAP3K43.09043099
6CAMK1D2.90680774
7MINK12.72211082
8MAP2K72.59777747
9NTRK22.41978392
10DAPK22.36137765
11CASK2.23010557
12NTRK12.12625871
13PAK62.11132873
14MAP3K122.08441674
15SIK22.04343503
16MAP2K41.95613829
17MAPK131.83734391
18PNCK1.72490628
19TNIK1.71588632
20RIPK41.65450542
21KSR21.63381309
22CDK51.55203489
23GRK51.49252887
24KSR11.49123568
25DAPK11.46190440
26PRPF4B1.46033034
27CAMKK11.45288188
28PRKD31.44768653
29PLK21.29580924
30UHMK11.24079088
31PHKG11.20269313
32PHKG21.20269313
33PRKCG1.20141206
34LATS21.16246734
35INSRR1.16122906
36STK381.12899669
37FES1.04512135
38CAMK2A1.03630525
39CDK191.02704134
40SGK4941.00783783
41SGK2231.00783783
42MAP3K20.99595481
43PINK10.95189494
44ICK0.95157939
45TYRO30.95107551
46SIK30.92253345
47CSNK1G20.91763911
48SGK20.90523904
49CAMKK20.88858797
50CDK180.88142174
51CDK150.85831508
52STK110.84744557
53ARAF0.84357384
54CDK140.83812759
55CAMK10.82516589
56RET0.81138711
57CAMK2B0.80191512
58DYRK1A0.79770241
59MARK20.75100314
60CDK11A0.74281216
61PAK30.74066598
62CAMK1G0.71588795
63RIPK10.71331206
64MAP3K130.70749955
65SGK10.70294391
66SGK30.69445203
67WNK30.68787173
68AKT30.68345283
69FGFR20.67901669
70PRKCH0.66509308
71ALK0.64056756
72PRKD20.62883486
73TAOK10.62834515
74BRAF0.60360901
75OXSR10.59619789
76PTK2B0.59066981
77LMTK20.57898571
78NEK60.57553891
79FGR0.57345380
80BMPR20.56288195
81NME10.55835957
82PRKCZ0.55609793
83PRKCE0.55457817
84CDC42BPA0.51418480
85DYRK20.49273664
86FRK0.49160573
87MAP3K110.49127959
88PRKAA10.49087484
89PRKCI0.49067364
90RPS6KA20.47096251
91FYN0.46520469
92MAP3K60.46423002
93RPS6KA30.46343386
94ERBB30.45063973
95CSNK1G30.44765589
96CAMK2D0.44409268
97PKN10.44164338
98MAPK100.43893952
99MAPK80.43754192
100RAF10.43136811
101WNK10.42430394
102TNK20.42288670
103BCR0.41485914
104GSK3B0.40401716
105GRK70.40078310
106CAMK40.40029266
107CSNK1E0.39622896
108PDK10.39220182
109TRIB30.39112239
110CAMK2G0.38125153
111MAP2K10.37611030
112SCYL20.36513290
113PDPK10.36065718
114PRKCB0.36019369
115MAPK120.34950567
116BRSK10.34768787
117EEF2K0.34707983
118MAP3K10.34345367
119FER0.33443801
120ADRBK10.33255845
121IRAK20.33233422
122ERBB20.32548056
123PRKG10.31620147
124PRKDC0.28583437
125CDK120.27822628
126PRKCA0.27419540

Predicted pathways (KEGG)

RankGene SetZ-score
1* Nicotine addiction_Homo sapiens_hsa050333.88007717
2* Synaptic vesicle cycle_Homo sapiens_hsa047213.26101871
3Olfactory transduction_Homo sapiens_hsa047402.75459008
4Circadian entrainment_Homo sapiens_hsa047132.72714297
5* Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.70863314
6* GABAergic synapse_Homo sapiens_hsa047272.68246542
7Glutamatergic synapse_Homo sapiens_hsa047242.65878118
8Long-term potentiation_Homo sapiens_hsa047202.58979411
9* Morphine addiction_Homo sapiens_hsa050322.47553778
10Amphetamine addiction_Homo sapiens_hsa050312.45553631
11* Dopaminergic synapse_Homo sapiens_hsa047282.21715271
12Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.19930816
13Salivary secretion_Homo sapiens_hsa049702.13229522
14Taste transduction_Homo sapiens_hsa047421.98618937
15Insulin secretion_Homo sapiens_hsa049111.98576021
16* Cholinergic synapse_Homo sapiens_hsa047251.91672709
17Fatty acid biosynthesis_Homo sapiens_hsa000611.88408192
18Cocaine addiction_Homo sapiens_hsa050301.83380893
19* Serotonergic synapse_Homo sapiens_hsa047261.80985864
20Gastric acid secretion_Homo sapiens_hsa049711.80148163
21Aldosterone synthesis and secretion_Homo sapiens_hsa049251.77423245
22Long-term depression_Homo sapiens_hsa047301.77409679
23Renin secretion_Homo sapiens_hsa049241.63731187
24Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.62681897
25Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.58642553
26Oxytocin signaling pathway_Homo sapiens_hsa049211.58194076
27* Calcium signaling pathway_Homo sapiens_hsa040201.56869545
28Collecting duct acid secretion_Homo sapiens_hsa049661.49824353
29GnRH signaling pathway_Homo sapiens_hsa049121.43525851
30Axon guidance_Homo sapiens_hsa043601.39043807
31Gap junction_Homo sapiens_hsa045401.36608997
32Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.34604164
33Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.26385956
34Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.25915685
35Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.24649652
36cAMP signaling pathway_Homo sapiens_hsa040241.23339697
37Vitamin B6 metabolism_Homo sapiens_hsa007501.14889816
38Estrogen signaling pathway_Homo sapiens_hsa049151.14519286
39Phosphatidylinositol signaling system_Homo sapiens_hsa040701.13285662
40ErbB signaling pathway_Homo sapiens_hsa040121.10089873
41Glioma_Homo sapiens_hsa052141.08040553
42* Type II diabetes mellitus_Homo sapiens_hsa049301.06454380
43Melanogenesis_Homo sapiens_hsa049161.03962729
44Vibrio cholerae infection_Homo sapiens_hsa051100.99363434
45Cardiac muscle contraction_Homo sapiens_hsa042600.95325537
46cGMP-PKG signaling pathway_Homo sapiens_hsa040220.94426915
47Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.90749295
48Phototransduction_Homo sapiens_hsa047440.87558523
49Vascular smooth muscle contraction_Homo sapiens_hsa042700.86038499
50Dorso-ventral axis formation_Homo sapiens_hsa043200.85429436
51Oocyte meiosis_Homo sapiens_hsa041140.83094231
52Phospholipase D signaling pathway_Homo sapiens_hsa040720.82843833
53Pancreatic secretion_Homo sapiens_hsa049720.80943917
54Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.79946719
55Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.75236609
56Choline metabolism in cancer_Homo sapiens_hsa052310.72768636
57* MAPK signaling pathway_Homo sapiens_hsa040100.71806250
58Thyroid hormone synthesis_Homo sapiens_hsa049180.71783981
59Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.69598583
60Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.69458067
61Dilated cardiomyopathy_Homo sapiens_hsa054140.68435116
62Neurotrophin signaling pathway_Homo sapiens_hsa047220.66936352
63Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.66657894
64Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.65588731
65Ras signaling pathway_Homo sapiens_hsa040140.64717935
66Alcoholism_Homo sapiens_hsa050340.60836289
67Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.58521767
68Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.58055666
69Type I diabetes mellitus_Homo sapiens_hsa049400.55886218
70Rap1 signaling pathway_Homo sapiens_hsa040150.55867190
71Sphingolipid signaling pathway_Homo sapiens_hsa040710.54830638
72VEGF signaling pathway_Homo sapiens_hsa043700.54536827
73Carbohydrate digestion and absorption_Homo sapiens_hsa049730.53509593
74Wnt signaling pathway_Homo sapiens_hsa043100.49127987
75Endometrial cancer_Homo sapiens_hsa052130.48470803
76mTOR signaling pathway_Homo sapiens_hsa041500.48056930
77Glucagon signaling pathway_Homo sapiens_hsa049220.47732569
78Thyroid hormone signaling pathway_Homo sapiens_hsa049190.47278460
79Renal cell carcinoma_Homo sapiens_hsa052110.46587639
80Inositol phosphate metabolism_Homo sapiens_hsa005620.46237531
81Tight junction_Homo sapiens_hsa045300.45908584
82Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.45570838
83Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.44516946
84Endocytosis_Homo sapiens_hsa041440.44436509
85AMPK signaling pathway_Homo sapiens_hsa041520.44243372
86Ovarian steroidogenesis_Homo sapiens_hsa049130.42946337
87Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.42732702
88Hippo signaling pathway_Homo sapiens_hsa043900.41504651
89African trypanosomiasis_Homo sapiens_hsa051430.40557270
90Alzheimers disease_Homo sapiens_hsa050100.39787214
91Circadian rhythm_Homo sapiens_hsa047100.39406247
92Prion diseases_Homo sapiens_hsa050200.38343428
93Insulin signaling pathway_Homo sapiens_hsa049100.38342310
94SNARE interactions in vesicular transport_Homo sapiens_hsa041300.37110901
95Non-small cell lung cancer_Homo sapiens_hsa052230.36257712
96Bile secretion_Homo sapiens_hsa049760.35218823
97Regulation of autophagy_Homo sapiens_hsa041400.34933188
98Longevity regulating pathway - mammal_Homo sapiens_hsa042110.34382955
99Chemokine signaling pathway_Homo sapiens_hsa040620.33073971
100Colorectal cancer_Homo sapiens_hsa052100.32709268
101ABC transporters_Homo sapiens_hsa020100.32312879
102Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.31783614
103Maturity onset diabetes of the young_Homo sapiens_hsa049500.30303204
104Lysine degradation_Homo sapiens_hsa003100.29991923
105Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.28775428
106Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.28288658
107Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.28287828
108Hedgehog signaling pathway_Homo sapiens_hsa043400.28089752
109Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.26141244
110Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.25482151
111Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.24501152
112Arginine and proline metabolism_Homo sapiens_hsa003300.23916238
113Notch signaling pathway_Homo sapiens_hsa043300.22094373
114Glycerophospholipid metabolism_Homo sapiens_hsa005640.19775179

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