CACNA1G

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: Voltage-sensitive calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division, and cell death. This gene encodes a T-type, low-voltage activated calcium channel. The T-type channels generate currents that are both transient, owing to fast inactivation, and tiny, owing to small conductance. T-type channels are thought to be involved in pacemaker activity, low-threshold calcium spikes, neuronal oscillations and resonance, and rebound burst firing. Many alternatively spliced transcript variants encoding different isoforms have been described for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1locomotory exploration behavior (GO:0035641)5.44658216
2regulation of short-term neuronal synaptic plasticity (GO:0048172)5.39613352
3synaptic vesicle maturation (GO:0016188)5.29633902
4vocalization behavior (GO:0071625)5.09987423
5positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.73213366
6* positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.72793970
7regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.61802406
8layer formation in cerebral cortex (GO:0021819)4.49809797
9ionotropic glutamate receptor signaling pathway (GO:0035235)4.39137240
10synaptic vesicle exocytosis (GO:0016079)4.34782521
11response to pheromone (GO:0019236)4.33739660
12synaptic vesicle docking involved in exocytosis (GO:0016081)4.30846037
13presynaptic membrane assembly (GO:0097105)4.30175981
14cerebellar Purkinje cell differentiation (GO:0021702)4.30098774
15glutamate secretion (GO:0014047)4.27729886
16presynaptic membrane organization (GO:0097090)4.23697356
17regulation of synaptic vesicle exocytosis (GO:2000300)4.23589758
18cell communication by electrical coupling involved in cardiac conduction (GO:0086064)4.21003925
19exploration behavior (GO:0035640)4.19094910
20sodium ion export (GO:0071436)4.17790709
21dendritic spine morphogenesis (GO:0060997)4.11112114
22cerebellar granule cell differentiation (GO:0021707)4.08152151
23regulation of glutamate receptor signaling pathway (GO:1900449)4.06843195
24gamma-aminobutyric acid transport (GO:0015812)4.06824534
25glutamate receptor signaling pathway (GO:0007215)4.06813482
26neurotransmitter secretion (GO:0007269)4.06287596
27cellular potassium ion homeostasis (GO:0030007)4.03018109
28cell communication by electrical coupling (GO:0010644)4.02125719
29protein localization to synapse (GO:0035418)3.96194381
30neuronal action potential propagation (GO:0019227)3.88400336
31positive regulation of synapse maturation (GO:0090129)3.83225955
32synaptic transmission, glutamatergic (GO:0035249)3.81088426
33positive regulation of dendritic spine morphogenesis (GO:0061003)3.76033675
34neuron cell-cell adhesion (GO:0007158)3.71654273
35axonal fasciculation (GO:0007413)3.70568917
36G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.69734227
37regulation of synaptic vesicle transport (GO:1902803)3.68067708
38short-term memory (GO:0007614)3.62699359
39neuron recognition (GO:0008038)3.57455279
40membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.52333213
41regulation of long-term neuronal synaptic plasticity (GO:0048169)3.51325011
42dendrite morphogenesis (GO:0048813)3.48610240
43long-term memory (GO:0007616)3.48433365
44regulation of synapse structural plasticity (GO:0051823)3.48231489
45establishment of nucleus localization (GO:0040023)3.46884697
46* regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.44848834
47regulation of neuronal synaptic plasticity (GO:0048168)3.41143338
48cell differentiation in hindbrain (GO:0021533)3.40242490
49positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.40000375
50activation of protein kinase A activity (GO:0034199)3.37737397
51proline transport (GO:0015824)3.36139755
52neuron-neuron synaptic transmission (GO:0007270)3.35734063
53gamma-aminobutyric acid signaling pathway (GO:0007214)3.23734719
54neuromuscular process controlling balance (GO:0050885)3.22961821
55regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.20972219
56neurotransmitter transport (GO:0006836)3.20370545
57negative regulation of synaptic transmission, GABAergic (GO:0032229)3.19233318
58cell migration in hindbrain (GO:0021535)3.17739638
59regulation of voltage-gated calcium channel activity (GO:1901385)3.15236567
60regulation of excitatory postsynaptic membrane potential (GO:0060079)3.12229267
61synaptic vesicle endocytosis (GO:0048488)3.10894035
62positive regulation of potassium ion transmembrane transport (GO:1901381)3.09599059
63regulation of neurotransmitter transport (GO:0051588)3.09571012
64cochlea development (GO:0090102)3.08739440
65regulation of dendritic spine development (GO:0060998)3.08179785
66negative regulation of dendrite morphogenesis (GO:0050774)3.08049965
67neurotransmitter-gated ion channel clustering (GO:0072578)3.06957983
68positive regulation of membrane potential (GO:0045838)3.06770200
69potassium ion import (GO:0010107)3.06062572
70neuromuscular process controlling posture (GO:0050884)3.05544215
71adult walking behavior (GO:0007628)3.04519165
72neuromuscular synaptic transmission (GO:0007274)3.04062821
73innervation (GO:0060384)3.03082627
74regulation of postsynaptic membrane potential (GO:0060078)3.02831942
75regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)2.98711034
76regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.98030487
77postsynaptic membrane organization (GO:0001941)2.97155962
78cellular sodium ion homeostasis (GO:0006883)2.97085316
79transmission of nerve impulse (GO:0019226)2.95819730
80potassium ion homeostasis (GO:0055075)2.95798653
81regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO2.95061306
82response to auditory stimulus (GO:0010996)2.94692906
83chemosensory behavior (GO:0007635)2.94674810
84C4-dicarboxylate transport (GO:0015740)2.94638164
85regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)2.93442464
86auditory behavior (GO:0031223)2.92325158
87regulation of neurotransmitter levels (GO:0001505)2.91811487
88central nervous system projection neuron axonogenesis (GO:0021952)2.89331319
89axon ensheathment in central nervous system (GO:0032291)2.89196455
90central nervous system myelination (GO:0022010)2.89196455
91* membrane depolarization during action potential (GO:0086010)2.88584967
92cerebellar Purkinje cell layer development (GO:0021680)2.88551551
93regulation of dendrite morphogenesis (GO:0048814)2.87885603
94cell communication involved in cardiac conduction (GO:0086065)2.87634629
95regulation of synapse maturation (GO:0090128)2.85977912
96regulation of neurotransmitter secretion (GO:0046928)2.85105881
97* synaptic transmission (GO:0007268)2.83923277
98cytoskeletal anchoring at plasma membrane (GO:0007016)2.83738551
99positive regulation of dendrite development (GO:1900006)2.83598040
100glycine transport (GO:0015816)2.83136329
101mechanosensory behavior (GO:0007638)2.82758330
102regulation of dendritic spine morphogenesis (GO:0061001)2.78146886
103neuronal ion channel clustering (GO:0045161)2.77794792
104regulation of ARF protein signal transduction (GO:0032012)2.77401819
105dendritic spine organization (GO:0097061)2.77392529
106synapse organization (GO:0050808)2.77230490
107synapse assembly (GO:0007416)2.74887685
108regulation of vesicle fusion (GO:0031338)2.73577817
109prepulse inhibition (GO:0060134)2.72403762
110mating behavior (GO:0007617)2.72337542
111* membrane depolarization (GO:0051899)2.71544805
112membrane hyperpolarization (GO:0060081)2.70290594
113regulation of synaptic plasticity (GO:0048167)2.68863044
114positive regulation of synapse assembly (GO:0051965)2.68829651
115positive regulation of dendritic spine development (GO:0060999)2.64669761
116plasma membrane repair (GO:0001778)2.64362223
117membrane repolarization (GO:0086009)2.63846154
118positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)2.61500371
119membrane repolarization during cardiac muscle cell action potential (GO:0086013)2.60166565
120regulation of synaptic transmission, glutamatergic (GO:0051966)2.60150476
121neuromuscular process (GO:0050905)2.58844397
122regulation of clathrin-mediated endocytosis (GO:2000369)2.58505973

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.83855530
2SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.21728316
3JARID2_20064375_ChIP-Seq_MESCs_Mouse3.07140537
4* EZH2_18974828_ChIP-Seq_MESCs_Mouse3.00310154
5* RNF2_18974828_ChIP-Seq_MESCs_Mouse3.00310154
6* SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.95106840
7DROSHA_22980978_ChIP-Seq_HELA_Human2.79003820
8* JARID2_20075857_ChIP-Seq_MESCs_Mouse2.73131961
9* EZH2_27304074_Chip-Seq_ESCs_Mouse2.66015872
10EED_16625203_ChIP-ChIP_MESCs_Mouse2.59891244
11* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.58747218
12GBX2_23144817_ChIP-Seq_PC3_Human2.58659830
13* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.53810511
14* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.53699632
15* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.52916375
16* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.36193179
17* RNF2_27304074_Chip-Seq_ESCs_Mouse2.35775620
18* EZH2_27294783_Chip-Seq_ESCs_Mouse2.35556728
19IKZF1_21737484_ChIP-ChIP_HCT116_Human2.30785497
20EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.27804964
21* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.23532542
22REST_21632747_ChIP-Seq_MESCs_Mouse2.20866501
23GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.09986821
24RARB_27405468_Chip-Seq_BRAIN_Mouse2.02189818
25CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.98164569
26ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.97249488
27MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.94056753
28NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.90047128
29* REST_18959480_ChIP-ChIP_MESCs_Mouse1.79157823
30ERG_21242973_ChIP-ChIP_JURKAT_Human1.71594623
31TAF15_26573619_Chip-Seq_HEK293_Human1.67874959
32ZFP57_27257070_Chip-Seq_ESCs_Mouse1.66061519
33PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.63699030
34WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.59837743
35RNF2_27304074_Chip-Seq_NSC_Mouse1.59642378
36ZNF274_21170338_ChIP-Seq_K562_Hela1.58616292
37AR_21572438_ChIP-Seq_LNCaP_Human1.56218195
38RING1B_27294783_Chip-Seq_ESCs_Mouse1.52406352
39RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.48808837
40RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.47241934
41* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.46637075
42* KDM2B_26808549_Chip-Seq_K562_Human1.46488803
43CTBP2_25329375_ChIP-Seq_LNCAP_Human1.41629388
44GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.39009143
45* EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.38797216
46PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.37868576
47SMAD4_21799915_ChIP-Seq_A2780_Human1.36714882
48* RING1B_27294783_Chip-Seq_NPCs_Mouse1.33696254
49SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.31998621
50DNAJC2_21179169_ChIP-ChIP_NT2_Human1.31935051
51* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.31710012
52* AR_19668381_ChIP-Seq_PC3_Human1.31669693
53CBX2_27304074_Chip-Seq_ESCs_Mouse1.31011331
54TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.25188200
55CDX2_19796622_ChIP-Seq_MESCs_Mouse1.23988819
56* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.23870668
57TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.22837387
58TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.22685225
59ZFP281_27345836_Chip-Seq_ESCs_Mouse1.21526594
60SOX2_21211035_ChIP-Seq_LN229_Gbm1.21399311
61VDR_22108803_ChIP-Seq_LS180_Human1.19627146
62ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.19570511
63TP53_20018659_ChIP-ChIP_R1E_Mouse1.17595798
64CTBP1_25329375_ChIP-Seq_LNCAP_Human1.17519124
65* DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.17215692
66CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.17176730
67SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.16704677
68EP300_21415370_ChIP-Seq_HL-1_Mouse1.16036847
69NR3C1_23031785_ChIP-Seq_PC12_Mouse1.13591729
70SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.12857840
71CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.11593075
72IGF1R_20145208_ChIP-Seq_DFB_Human1.11507415
73FUS_26573619_Chip-Seq_HEK293_Human1.09549667
74SMAD_19615063_ChIP-ChIP_OVARY_Human1.08643002
75ZNF217_24962896_ChIP-Seq_MCF-7_Human1.07813044
76RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.07809512
77SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.07528399
78STAT6_21828071_ChIP-Seq_BEAS2B_Human1.06132578
79RBPJ_22232070_ChIP-Seq_NCS_Mouse1.06011738
80* LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.05475159
81KDM2B_26808549_Chip-Seq_SUP-B15_Human1.05098128
82YAP1_20516196_ChIP-Seq_MESCs_Mouse1.04182259
83TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.03213538
84SMAD3_21741376_ChIP-Seq_EPCs_Human1.02274595
85ARNT_22903824_ChIP-Seq_MCF-7_Human1.02145030
86TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.00577803
87BMI1_23680149_ChIP-Seq_NPCS_Mouse0.99877477
88AHR_22903824_ChIP-Seq_MCF-7_Human0.98965516
89AR_25329375_ChIP-Seq_VCAP_Human0.98229579
90MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.97831245
91TP53_16413492_ChIP-PET_HCT116_Human0.97655991
92SOX9_26525672_Chip-Seq_HEART_Mouse0.97569937
93POU3F2_20337985_ChIP-ChIP_501MEL_Human0.97483504
94GATA1_26923725_Chip-Seq_HPCs_Mouse0.97431145
95STAT3_23295773_ChIP-Seq_U87_Human0.97208198
96PIAS1_25552417_ChIP-Seq_VCAP_Human0.96976443
97PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.96189041
98ISL1_27105846_Chip-Seq_CPCs_Mouse0.95998333
99* SMAD4_21741376_ChIP-Seq_HESCs_Human0.94120923
100* GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.92809903
101THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.92664317
102TOP2B_26459242_ChIP-Seq_MCF-7_Human0.92588742
103KDM2B_26808549_Chip-Seq_JURKAT_Human0.92071081
104SMAD3_21741376_ChIP-Seq_ESCs_Human0.91992826
105* OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.91940827
106BCAT_22108803_ChIP-Seq_LS180_Human0.91043435
107* KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.90696717
108NR3C1_21868756_ChIP-Seq_MCF10A_Human0.90415970
109CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.88894639
110UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.88856530
111MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.88541408
112CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.88164276
113P300_19829295_ChIP-Seq_ESCs_Human0.87122777
114AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.87065636
115SMAD3_21741376_ChIP-Seq_HESCs_Human0.86521848
116ESR1_20079471_ChIP-ChIP_T-47D_Human0.86332688
117TCF4_23295773_ChIP-Seq_U87_Human0.86279330
118CTCF_27219007_Chip-Seq_Bcells_Human0.85760502
119CTNNB1_20460455_ChIP-Seq_HCT116_Human0.85424303
120TET1_21490601_ChIP-Seq_MESCs_Mouse0.83499537
121OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.83195332
122RXR_22108803_ChIP-Seq_LS180_Human0.82700506
123POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.82223240
124TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.82223240
125ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.81946497
126BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.81209330

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.60234968
2MP0003880_abnormal_central_pattern3.87053742
3MP0003635_abnormal_synaptic_transmissio3.64956557
4MP0009046_muscle_twitch3.27694646
5MP0005423_abnormal_somatic_nervous2.82876076
6MP0004270_analgesia2.73985451
7* MP0009745_abnormal_behavioral_response2.63256206
8MP0002063_abnormal_learning/memory/cond2.60933081
9* MP0002064_seizures2.57009463
10MP0003122_maternal_imprinting2.42294654
11MP0004145_abnormal_muscle_electrophysio2.28555554
12MP0001968_abnormal_touch/_nociception2.27850523
13MP0002734_abnormal_mechanical_nocicepti2.18273524
14MP0008569_lethality_at_weaning2.17774375
15MP0002572_abnormal_emotion/affect_behav2.15373349
16MP0000751_myopathy2.12832409
17* MP0002272_abnormal_nervous_system2.12674755
18MP0002184_abnormal_innervation1.95980523
19MP0001486_abnormal_startle_reflex1.92530717
20MP0002067_abnormal_sensory_capabilities1.82843896
21MP0009780_abnormal_chondrocyte_physiolo1.82201906
22MP0000778_abnormal_nervous_system1.78483792
23MP0004858_abnormal_nervous_system1.75189449
24MP0001440_abnormal_grooming_behavior1.73397325
25MP0002736_abnormal_nociception_after1.59057268
26MP0002735_abnormal_chemical_nociception1.58550428
27MP0003283_abnormal_digestive_organ1.57466442
28MP0000955_abnormal_spinal_cord1.57422492
29MP0002837_dystrophic_cardiac_calcinosis1.56706960
30MP0004215_abnormal_myocardial_fiber1.53196764
31MP0005623_abnormal_meninges_morphology1.53005213
32MP0002733_abnormal_thermal_nociception1.51330311
33MP0002557_abnormal_social/conspecific_i1.51130132
34MP0010030_abnormal_orbit_morphology1.50328705
35MP0001970_abnormal_pain_threshold1.48752539
36MP0004811_abnormal_neuron_physiology1.46177931
37MP0000566_synostosis1.45895734
38MP0005503_abnormal_tendon_morphology1.45717740
39MP0002638_abnormal_pupillary_reflex1.44182040
40* MP0001501_abnormal_sleep_pattern1.40649717
41MP0003329_amyloid_beta_deposits1.40332838
42MP0003787_abnormal_imprinting1.40289453
43MP0004885_abnormal_endolymph1.40132771
44MP0001299_abnormal_eye_distance/1.37591036
45MP0005187_abnormal_penis_morphology1.36886328
46MP0003385_abnormal_body_wall1.35256703
47MP0004924_abnormal_behavior1.33597607
48MP0005386_behavior/neurological_phenoty1.33597607
49MP0002882_abnormal_neuron_morphology1.31891674
50MP0003123_paternal_imprinting1.28373913
51MP0002909_abnormal_adrenal_gland1.27019118
52* MP0002066_abnormal_motor_capabilities/c1.23875219
53MP0006276_abnormal_autonomic_nervous1.23116075
54MP0008438_abnormal_cutaneous_collagen1.20075890
55MP0004233_abnormal_muscle_weight1.19391573
56MP0005646_abnormal_pituitary_gland1.17501619
57MP0000013_abnormal_adipose_tissue1.17167051
58MP0010386_abnormal_urinary_bladder1.17135847
59MP0002152_abnormal_brain_morphology1.14943671
60MP0001485_abnormal_pinna_reflex1.12866348
61* MP0003137_abnormal_impulse_conducting1.10926438
62MP0001502_abnormal_circadian_rhythm1.06967061
63MP0006292_abnormal_olfactory_placode1.04449559
64MP0001963_abnormal_hearing_physiology1.04073054
65MP0001346_abnormal_lacrimal_gland1.03989350
66MP0000569_abnormal_digit_pigmentation1.03336974
67MP0004142_abnormal_muscle_tone1.02786101
68MP0004084_abnormal_cardiac_muscle1.02273968
69MP0008877_abnormal_DNA_methylation1.00408432
70MP0000537_abnormal_urethra_morphology0.99995942
71MP0003938_abnormal_ear_development0.99938560
72MP0003121_genomic_imprinting0.98715438
73MP0000534_abnormal_ureter_morphology0.96814594
74MP0004484_altered_response_of0.96445413
75MP0002234_abnormal_pharynx_morphology0.95290349
76MP0002089_abnormal_postnatal_growth/wei0.94797374
77* MP0004085_abnormal_heartbeat0.94100908
78MP0001984_abnormal_olfaction0.93297692
79MP0000026_abnormal_inner_ear0.91104299
80MP0001177_atelectasis0.90792708
81MP0003879_abnormal_hair_cell0.90549651
82MP0005499_abnormal_olfactory_system0.89725899
83MP0005394_taste/olfaction_phenotype0.89725899
84MP0002102_abnormal_ear_morphology0.88868174
85MP0008961_abnormal_basal_metabolism0.88679311
86* MP0003633_abnormal_nervous_system0.88637916
87MP0002822_catalepsy0.87693334
88MP0001529_abnormal_vocalization0.86712641
89MP0009250_abnormal_appendicular_skeleto0.86548555
90MP0002108_abnormal_muscle_morphology0.85831007
91MP0005645_abnormal_hypothalamus_physiol0.85718607
92MP0000579_abnormal_nail_morphology0.84352066
93MP0000049_abnormal_middle_ear0.84234992
94MP0003861_abnormal_nervous_system0.83539636
95MP0001905_abnormal_dopamine_level0.82176029
96MP0008789_abnormal_olfactory_epithelium0.81321124
97MP0001188_hyperpigmentation0.81099344
98MP0000920_abnormal_myelination0.80962474
99* MP0003631_nervous_system_phenotype0.80406423
100MP0003632_abnormal_nervous_system0.80339756
101MP0005275_abnormal_skin_tensile0.80130130
102MP0004133_heterotaxia0.79965980
103MP0002249_abnormal_larynx_morphology0.79845601
104MP0005551_abnormal_eye_electrophysiolog0.78980713
105MP0003705_abnormal_hypodermis_morpholog0.77711882
106MP0004036_abnormal_muscle_relaxation0.77516831
107MP0004510_myositis0.76794686
108MP0000747_muscle_weakness0.75266535
109MP0004742_abnormal_vestibular_system0.74263505
110MP0003942_abnormal_urinary_system0.73169273
111MP0000631_abnormal_neuroendocrine_gland0.72228616
112MP0006072_abnormal_retinal_apoptosis0.72055556
113MP0003119_abnormal_digestive_system0.71455738
114MP0008872_abnormal_physiological_respon0.71250386
115MP0004087_abnormal_muscle_fiber0.70371141
116MP0006138_congestive_heart_failure0.69810732
117MP0005620_abnormal_muscle_contractility0.69757325
118MP0002069_abnormal_eating/drinking_beha0.69346472
119MP0001943_abnormal_respiration0.68899356
120MP0002752_abnormal_somatic_nervous0.68384782
121MP0003634_abnormal_glial_cell0.67108343
122MP0008874_decreased_physiological_sensi0.65442681
123MP0010770_preweaning_lethality0.65143739
124MP0002082_postnatal_lethality0.65143739
125MP0004147_increased_porphyrin_level0.64826518
126MP0003690_abnormal_glial_cell0.64725704
127MP0002972_abnormal_cardiac_muscle0.64137589
128MP0004272_abnormal_basement_membrane0.63584292
129MP0005369_muscle_phenotype0.63485758
130MP0002229_neurodegeneration0.63403756
131MP0000428_abnormal_craniofacial_morphol0.63227150
132MP0010769_abnormal_survival0.63176139

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)4.63964703
2Visual hallucinations (HP:0002367)4.32533284
3Myokymia (HP:0002411)4.23717296
4Progressive cerebellar ataxia (HP:0002073)4.20550296
5Focal seizures (HP:0007359)4.18950482
6Action tremor (HP:0002345)3.87071672
7Atonic seizures (HP:0010819)3.29236734
8Genetic anticipation (HP:0003743)3.21646342
9Epileptic encephalopathy (HP:0200134)3.16476693
10Shallow orbits (HP:0000586)3.07969845
11Limb dystonia (HP:0002451)3.06738786
12Broad-based gait (HP:0002136)3.01467775
13Broad metatarsal (HP:0001783)2.90999111
14Febrile seizures (HP:0002373)2.89602354
15Gaze-evoked nystagmus (HP:0000640)2.88103893
16Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.87742114
17Short 4th metacarpal (HP:0010044)2.87742114
18Dysdiadochokinesis (HP:0002075)2.85636601
19Hemiplegia (HP:0002301)2.85127476
20Absence seizures (HP:0002121)2.84132999
21Ventricular fibrillation (HP:0001663)2.80413751
22Dysmetric saccades (HP:0000641)2.69823493
23Abnormality of the lower motor neuron (HP:0002366)2.62471495
24Cutaneous finger syndactyly (HP:0010554)2.60849664
25Spastic gait (HP:0002064)2.58328226
26Insomnia (HP:0100785)2.57606785
27Status epilepticus (HP:0002133)2.57376658
28Generalized tonic-clonic seizures (HP:0002069)2.55333728
29Supranuclear gaze palsy (HP:0000605)2.53208662
30Neoplasm of the heart (HP:0100544)2.52798788
31Abnormality of the 4th metacarpal (HP:0010012)2.50779208
32Depression (HP:0000716)2.48075798
33Hypoventilation (HP:0002791)2.46085524
34Impaired smooth pursuit (HP:0007772)2.43951274
35Dialeptic seizures (HP:0011146)2.39817315
36Dysmetria (HP:0001310)2.39654844
37Epileptiform EEG discharges (HP:0011182)2.39572593
38Cutaneous syndactyly (HP:0012725)2.38706633
39Renal duplication (HP:0000075)2.37542128
40Hemiparesis (HP:0001269)2.37446788
41Neurofibrillary tangles (HP:0002185)2.36676410
42Truncal ataxia (HP:0002078)2.35587548
43Protrusio acetabuli (HP:0003179)2.32986915
44Poor eye contact (HP:0000817)2.32796127
45Bladder diverticulum (HP:0000015)2.31410853
46Sleep apnea (HP:0010535)2.30753704
47Ankle clonus (HP:0011448)2.30432861
48Pointed chin (HP:0000307)2.29938354
49Mutism (HP:0002300)2.28509911
50Sudden death (HP:0001699)2.27637804
51Increased variability in muscle fiber diameter (HP:0003557)2.25931445
52Scanning speech (HP:0002168)2.25130364
53Hyperventilation (HP:0002883)2.24830815
54Hyperacusis (HP:0010780)2.19994120
55Impaired social interactions (HP:0000735)2.19196497
56Abnormal social behavior (HP:0012433)2.19196497
57Abnormality of ocular smooth pursuit (HP:0000617)2.19083925
58Narrow nasal bridge (HP:0000446)2.18100391
59EEG with generalized epileptiform discharges (HP:0011198)2.17085330
60Renovascular hypertension (HP:0100817)2.13108295
61Agitation (HP:0000713)2.11700556
62Intention tremor (HP:0002080)2.10978766
63Bundle branch block (HP:0011710)2.10472873
64Postural tremor (HP:0002174)2.06394583
65Abnormality of the corticospinal tract (HP:0002492)2.06174119
66Torticollis (HP:0000473)2.04347605
67Prolonged QT interval (HP:0001657)2.03876494
68Anxiety (HP:0000739)2.03176996
69Buphthalmos (HP:0000557)2.03070608
70Elfin facies (HP:0004428)2.02590892
71Bowel diverticulosis (HP:0005222)2.01686472
72Flat cornea (HP:0007720)1.99606784
73Abnormality of binocular vision (HP:0011514)1.98765433
74Diplopia (HP:0000651)1.98765433
75Impaired vibration sensation in the lower limbs (HP:0002166)1.97955051
76Urinary bladder sphincter dysfunction (HP:0002839)1.97890355
77Hypsarrhythmia (HP:0002521)1.97660794
78Overriding aorta (HP:0002623)1.97391586
79Abnormal eating behavior (HP:0100738)1.97381353
80Drooling (HP:0002307)1.94541854
81Excessive salivation (HP:0003781)1.94541854
82Midline defect of the nose (HP:0004122)1.94379858
83Turricephaly (HP:0000262)1.93953513
84Akinesia (HP:0002304)1.93103103
85Sacral dimple (HP:0000960)1.92722390
86Postural instability (HP:0002172)1.91842105
87Ankle contracture (HP:0006466)1.91513534
88Cerebral aneurysm (HP:0004944)1.91352160
89Premature rupture of membranes (HP:0001788)1.89844442
90Bronchomalacia (HP:0002780)1.89762709
91Calcaneovalgus deformity (HP:0001848)1.88156185
92Type 1 muscle fiber predominance (HP:0003803)1.88064336
93Vitreoretinal degeneration (HP:0000655)1.86698782
94Coronal craniosynostosis (HP:0004440)1.85804560
95Polyphagia (HP:0002591)1.85741361
96Abnormality of the labia minora (HP:0012880)1.85105514
97Urinary urgency (HP:0000012)1.84895486
98Annular pancreas (HP:0001734)1.83930414
99Megalencephaly (HP:0001355)1.83810968
100Syncope (HP:0001279)1.83130228
101Impaired vibratory sensation (HP:0002495)1.82960679
102Abnormal EKG (HP:0003115)1.80802065
103Deformed tarsal bones (HP:0008119)1.78589687
104Absent speech (HP:0001344)1.77445142
105Focal dystonia (HP:0004373)1.76802462
106Papilledema (HP:0001085)1.76802348
107Amblyopia (HP:0000646)1.76239056
108Shawl scrotum (HP:0000049)1.75778671
109Follicular hyperkeratosis (HP:0007502)1.75550701
110Aplasia involving bones of the upper limbs (HP:0009823)1.75381301
111Aplasia of the phalanges of the hand (HP:0009802)1.75381301
112Aplasia involving bones of the extremities (HP:0009825)1.75381301
113Trigonocephaly (HP:0000243)1.74682347
114Myotonia (HP:0002486)1.73085632
115Abnormality of skeletal muscle fiber size (HP:0012084)1.73046377
116Macroorchidism (HP:0000053)1.72524723
117Ankyloglossia (HP:0010296)1.72418365
118Aqueductal stenosis (HP:0002410)1.72219896
119Stereotypic behavior (HP:0000733)1.71074211
120Cerebral inclusion bodies (HP:0100314)1.70436857
121Mildly elevated creatine phosphokinase (HP:0008180)1.70250779
122Deviation of the hallux (HP:0010051)1.70197657
123Abnormality of the parietal bone (HP:0002696)1.70034152
124Morphological abnormality of the pyramidal tract (HP:0002062)1.69809927
125Fragile skin (HP:0001030)1.67714231
126Obstructive sleep apnea (HP:0002870)1.66658883
127Narrow palate (HP:0000189)1.66610807
128Tetraplegia (HP:0002445)1.66328052
129Atrophic scars (HP:0001075)1.66069444
130Lower limb muscle weakness (HP:0007340)1.65176207
131Optic nerve hypoplasia (HP:0000609)1.64214460
132Craniofacial dystonia (HP:0012179)1.62375001
133Gait ataxia (HP:0002066)1.61623561
134Abnormality of the aortic arch (HP:0012303)1.61289081
135Tracheomalacia (HP:0002779)1.61209240
136Gait imbalance (HP:0002141)1.60481982
137Inability to walk (HP:0002540)1.60096295
138Incomplete penetrance (HP:0003829)1.58217964
139Clonus (HP:0002169)1.57739684
140Fetal akinesia sequence (HP:0001989)1.57594781

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK33.76029391
2MAP3K93.33086784
3MARK13.22512996
4MAP3K42.88180983
5MINK12.53723533
6EPHA42.48809226
7PAK62.46227879
8RIPK12.30229551
9NTRK22.27573088
10DAPK22.01310750
11STK382.00349506
12CAMKK11.97079791
13LATS21.85584881
14MAP2K71.84273193
15MAP2K41.82963671
16NTRK11.74831157
17PRKD31.68987579
18PNCK1.66317208
19SIK21.64163394
20DDR21.56263801
21PHKG11.49445608
22PHKG21.49445608
23CAMKK21.39499121
24WNK11.38097636
25KSR11.35221704
26KSR21.33671899
27CDK51.33309865
28PDGFRA1.31847748
29CAMK1G1.30826467
30TYRO31.28968944
31MAPK131.26747101
32TRIB31.23443663
33UHMK11.20973911
34DMPK1.18750273
35LMTK21.17545248
36PLK21.17221528
37CDC42BPA1.16572626
38PRKCG1.14900622
39PAK31.13986764
40PRKCH1.11648049
41TNIK1.09145808
42ALK1.07431545
43STK111.03174484
44GRK51.02877511
45CDK191.01141164
46CAMK11.00860502
47DYRK20.99224369
48RIPK40.98808088
49RET0.91492018
50CDK150.90293357
51TAOK10.89892030
52EPHA30.89739310
53PRPF4B0.89132288
54CDK180.87536010
55MAP3K120.85737387
56CAMK2A0.84255123
57CDK140.81700460
58ICK0.81145129
59MARK20.81074177
60MAP3K70.78171928
61FGFR20.78106861
62CDK11A0.78070873
63EPHB20.77796800
64ARAF0.77050705
65CAMK40.76601685
66SGK30.74476680
67DYRK1A0.73226377
68FER0.73131502
69SGK4940.72563274
70SGK2230.72563274
71DAPK10.71151503
72BRSK10.70070947
73FRK0.69182363
74CASK0.68662558
75PTK2B0.68239740
76ROCK20.67910140
77PKN10.66394380
78OXSR10.66275773
79SGK10.64537690
80CSNK1G30.64141762
81SGK20.63645695
82CSNK1A1L0.63127842
83CAMK2D0.62391853
84INSRR0.62381049
85PKN20.59713426
86ROCK10.59634650
87RPS6KA30.58803687
88BMX0.57696941
89PTK20.57546504
90CSNK1G20.56156069
91TTN0.55998722
92CAMK2B0.54576282
93FES0.54375591
94FYN0.53581095
95PRKG10.53576532
96FGFR10.53523048
97ERBB30.52236451
98MKNK20.51374895
99MAPK100.50878674
100CSNK1G10.50092629
101WNK30.49929984
102PINK10.48824874
103MAPK120.48277129
104PRKCZ0.48162182
105PTK60.47640247
106NEK10.47034167
107MAPK80.46403091
108MAP3K20.45286895
109PRKD10.45104756
110CSNK1D0.45080072
111CAMK2G0.44936077
112RPS6KA20.44591253
113MAP4K20.44508272
114PRKACA0.44034968
115PRKCE0.43960502
116PDK10.43887230
117PRKCA0.42608214
118CDK30.42193196
119ERBB20.42157109
120DAPK30.41750395
121BCR0.41476805
122PDGFRB0.41335209
123CSNK1A10.38116500
124NEK60.37452213
125CAMK1D0.36067392

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.54881211
2Synaptic vesicle cycle_Homo sapiens_hsa047212.65063528
3GABAergic synapse_Homo sapiens_hsa047272.51705002
4Glutamatergic synapse_Homo sapiens_hsa047242.49834887
5* Circadian entrainment_Homo sapiens_hsa047132.45895247
6Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.45255323
7Long-term potentiation_Homo sapiens_hsa047202.44635391
8Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.21108934
9Morphine addiction_Homo sapiens_hsa050322.15751396
10Amphetamine addiction_Homo sapiens_hsa050312.05172229
11Salivary secretion_Homo sapiens_hsa049702.01927947
12Olfactory transduction_Homo sapiens_hsa047401.97151875
13Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.86780976
14Dopaminergic synapse_Homo sapiens_hsa047281.83912130
15Long-term depression_Homo sapiens_hsa047301.83512256
16Insulin secretion_Homo sapiens_hsa049111.82576428
17Taste transduction_Homo sapiens_hsa047421.81752913
18Gastric acid secretion_Homo sapiens_hsa049711.80484879
19* Aldosterone synthesis and secretion_Homo sapiens_hsa049251.71173703
20Cholinergic synapse_Homo sapiens_hsa047251.69143883
21Oxytocin signaling pathway_Homo sapiens_hsa049211.59841573
22Renin secretion_Homo sapiens_hsa049241.54627906
23Dilated cardiomyopathy_Homo sapiens_hsa054141.47463267
24Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.45549251
25GnRH signaling pathway_Homo sapiens_hsa049121.43419587
26Gap junction_Homo sapiens_hsa045401.41228050
27* Calcium signaling pathway_Homo sapiens_hsa040201.40498348
28Estrogen signaling pathway_Homo sapiens_hsa049151.37872263
29Cocaine addiction_Homo sapiens_hsa050301.37711234
30Axon guidance_Homo sapiens_hsa043601.34479662
31Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.34292992
32Cardiac muscle contraction_Homo sapiens_hsa042601.32962666
33cAMP signaling pathway_Homo sapiens_hsa040241.32658410
34Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.31806276
35Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.28803962
36Serotonergic synapse_Homo sapiens_hsa047261.28712190
37Melanogenesis_Homo sapiens_hsa049161.24450397
38* Type II diabetes mellitus_Homo sapiens_hsa049301.23843490
39cGMP-PKG signaling pathway_Homo sapiens_hsa040221.20078653
40Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.15381617
41Glioma_Homo sapiens_hsa052141.12912647
42Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.10557090
43Phosphatidylinositol signaling system_Homo sapiens_hsa040701.09940736
44Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.09077598
45Hedgehog signaling pathway_Homo sapiens_hsa043401.03899686
46Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.02247876
47Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.96148558
48Phospholipase D signaling pathway_Homo sapiens_hsa040720.94210137
49Vascular smooth muscle contraction_Homo sapiens_hsa042700.93668089
50Basal cell carcinoma_Homo sapiens_hsa052170.91968770
51Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.91309544
52Pancreatic secretion_Homo sapiens_hsa049720.90881438
53ErbB signaling pathway_Homo sapiens_hsa040120.90595290
54Thyroid hormone synthesis_Homo sapiens_hsa049180.90018941
55Oocyte meiosis_Homo sapiens_hsa041140.86721704
56Dorso-ventral axis formation_Homo sapiens_hsa043200.84244033
57Thyroid hormone signaling pathway_Homo sapiens_hsa049190.81161835
58Wnt signaling pathway_Homo sapiens_hsa043100.80272582
59* MAPK signaling pathway_Homo sapiens_hsa040100.72636600
60Choline metabolism in cancer_Homo sapiens_hsa052310.72239164
61Alzheimers disease_Homo sapiens_hsa050100.71386085
62Carbohydrate digestion and absorption_Homo sapiens_hsa049730.70394420
63mTOR signaling pathway_Homo sapiens_hsa041500.69806718
64Neurotrophin signaling pathway_Homo sapiens_hsa047220.69285695
65Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.69234163
66Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.69109585
67Longevity regulating pathway - mammal_Homo sapiens_hsa042110.67686804
68Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.66102902
69Protein digestion and absorption_Homo sapiens_hsa049740.63903819
70Endometrial cancer_Homo sapiens_hsa052130.63903037
71Nitrogen metabolism_Homo sapiens_hsa009100.63773442
72Focal adhesion_Homo sapiens_hsa045100.63171564
73Proteoglycans in cancer_Homo sapiens_hsa052050.63008716
74Phototransduction_Homo sapiens_hsa047440.62384914
75Rap1 signaling pathway_Homo sapiens_hsa040150.61831524
76VEGF signaling pathway_Homo sapiens_hsa043700.61576042
77Glucagon signaling pathway_Homo sapiens_hsa049220.61069956
78Hippo signaling pathway_Homo sapiens_hsa043900.60098700
79Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.59857690
80Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.59408881
81Circadian rhythm_Homo sapiens_hsa047100.59125380
82Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.58676364
83ECM-receptor interaction_Homo sapiens_hsa045120.58412654
84Collecting duct acid secretion_Homo sapiens_hsa049660.57788443
85Bile secretion_Homo sapiens_hsa049760.56916828
86Renal cell carcinoma_Homo sapiens_hsa052110.56196742
87Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.53471673
88Insulin signaling pathway_Homo sapiens_hsa049100.51002684
89Inositol phosphate metabolism_Homo sapiens_hsa005620.50658706
90Ras signaling pathway_Homo sapiens_hsa040140.49927843
91Endocytosis_Homo sapiens_hsa041440.49038843
92Vitamin B6 metabolism_Homo sapiens_hsa007500.48394697
93Colorectal cancer_Homo sapiens_hsa052100.47025568
94Amoebiasis_Homo sapiens_hsa051460.45235000
95Non-small cell lung cancer_Homo sapiens_hsa052230.44455652
96Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.43567458
97Ovarian steroidogenesis_Homo sapiens_hsa049130.43415447
98Central carbon metabolism in cancer_Homo sapiens_hsa052300.42290404
99Vibrio cholerae infection_Homo sapiens_hsa051100.42135515
100Oxidative phosphorylation_Homo sapiens_hsa001900.41283933
101Platelet activation_Homo sapiens_hsa046110.40283408
102Alcoholism_Homo sapiens_hsa050340.40109870
103Tight junction_Homo sapiens_hsa045300.40078428
104Sphingolipid signaling pathway_Homo sapiens_hsa040710.38842297
105Parkinsons disease_Homo sapiens_hsa050120.37642832
106Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.34203308
107Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.33390407
108Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.33021590
109Fatty acid biosynthesis_Homo sapiens_hsa000610.32846158
110Prion diseases_Homo sapiens_hsa050200.27510218
111Butanoate metabolism_Homo sapiens_hsa006500.25432174
112Mineral absorption_Homo sapiens_hsa049780.23683496
113Ether lipid metabolism_Homo sapiens_hsa005650.22521525
114Huntingtons disease_Homo sapiens_hsa050160.20352993
115Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.16584081

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