CACNA1E

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-dependent calcium channels are multisubunit complexes consisting of alpha-1, alpha-2, beta, and delta subunits in a 1:1:1:1 ratio. These 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 the alpha-1E subunit of the R-type calcium channels, which belong to the 'high-voltage activated' group that maybe involved in the modulation of firing patterns of neurons important for information processing. 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
1positive regulation of excitatory postsynaptic membrane potential (GO:2000463)6.12438687
2locomotory exploration behavior (GO:0035641)5.99572577
3regulation of short-term neuronal synaptic plasticity (GO:0048172)5.98100437
4vocalization behavior (GO:0071625)5.79666927
5ionotropic glutamate receptor signaling pathway (GO:0035235)5.63545563
6regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.59370949
7regulation of glutamate receptor signaling pathway (GO:1900449)5.29772272
8synaptic vesicle maturation (GO:0016188)5.26398513
9synaptic vesicle exocytosis (GO:0016079)5.18003262
10glutamate receptor signaling pathway (GO:0007215)5.06301977
11synaptic vesicle docking involved in exocytosis (GO:0016081)5.04364138
12positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.96042227
13synaptic transmission, glutamatergic (GO:0035249)4.93424547
14glutamate secretion (GO:0014047)4.85788657
15protein localization to synapse (GO:0035418)4.82872088
16urinary tract smooth muscle contraction (GO:0014848)4.82478078
17regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.79921321
18neurotransmitter-gated ion channel clustering (GO:0072578)4.68439760
19exploration behavior (GO:0035640)4.64701791
20regulation of synaptic vesicle exocytosis (GO:2000300)4.63129449
21neuron cell-cell adhesion (GO:0007158)4.62938279
22positive regulation of action potential (GO:0045760)4.58873590
23neuron-neuron synaptic transmission (GO:0007270)4.57148287
24regulation of long-term neuronal synaptic plasticity (GO:0048169)4.57110350
25neuronal action potential propagation (GO:0019227)4.50877572
26pyrimidine nucleobase catabolic process (GO:0006208)4.49898667
27regulation of neuronal synaptic plasticity (GO:0048168)4.48671322
28central nervous system projection neuron axonogenesis (GO:0021952)4.35723057
29regulation of excitatory postsynaptic membrane potential (GO:0060079)4.34583114
30membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.31239736
31long-term memory (GO:0007616)4.25062700
32regulation of synaptic vesicle transport (GO:1902803)4.20075596
33neurotransmitter secretion (GO:0007269)4.19641926
34regulation of synapse structural plasticity (GO:0051823)4.14094837
35G-protein coupled glutamate receptor signaling pathway (GO:0007216)4.13092893
36regulation of postsynaptic membrane potential (GO:0060078)4.11473635
37cell migration in hindbrain (GO:0021535)4.11206176
38positive regulation of membrane potential (GO:0045838)4.08383072
39dendritic spine morphogenesis (GO:0060997)3.98002325
40tachykinin receptor signaling pathway (GO:0007217)3.93541512
41positive regulation of synapse maturation (GO:0090129)3.89882901
42establishment of mitochondrion localization (GO:0051654)3.83121413
43regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.81265223
44regulation of synaptic plasticity (GO:0048167)3.81164285
45gamma-aminobutyric acid signaling pathway (GO:0007214)3.81094384
46regulation of synaptic transmission, glutamatergic (GO:0051966)3.80659279
47gamma-aminobutyric acid transport (GO:0015812)3.79689579
48regulation of dendritic spine morphogenesis (GO:0061001)3.75309941
49transmission of nerve impulse (GO:0019226)3.66332414
50L-amino acid import (GO:0043092)3.66255715
51nucleobase catabolic process (GO:0046113)3.65704034
52cerebellar Purkinje cell differentiation (GO:0021702)3.65620070
53long-term synaptic potentiation (GO:0060291)3.64784330
54cellular potassium ion homeostasis (GO:0030007)3.63371530
55negative regulation of synaptic transmission, GABAergic (GO:0032229)3.63339844
56presynaptic membrane assembly (GO:0097105)3.62943076
57positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.61726048
58behavioral fear response (GO:0001662)3.59988872
59behavioral defense response (GO:0002209)3.59988872
60positive regulation of vascular permeability (GO:0043117)3.58475026
61response to histamine (GO:0034776)3.58042655
62postsynaptic membrane organization (GO:0001941)3.57280105
63positive regulation of neurotransmitter secretion (GO:0001956)3.52599248
64negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.47049794
65neuron recognition (GO:0008038)3.46756200
66adult walking behavior (GO:0007628)3.45807770
67positive regulation of synaptic transmission, GABAergic (GO:0032230)3.45741725
68central nervous system neuron axonogenesis (GO:0021955)3.44548442
69G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.44457501
70mitochondrion transport along microtubule (GO:0047497)3.44038623
71establishment of mitochondrion localization, microtubule-mediated (GO:0034643)3.44038623
72proline transport (GO:0015824)3.43622708
73* membrane depolarization (GO:0051899)3.43555483
74neurotransmitter transport (GO:0006836)3.39901242
75startle response (GO:0001964)3.38793746
76presynaptic membrane organization (GO:0097090)3.37988284
77synaptic vesicle endocytosis (GO:0048488)3.37980245
78neuromuscular process controlling balance (GO:0050885)3.36996790
79regulation of synaptic transmission, GABAergic (GO:0032228)3.36401999
80regulation of neurotransmitter secretion (GO:0046928)3.36243325
81auditory behavior (GO:0031223)3.35591428
82layer formation in cerebral cortex (GO:0021819)3.35508889
83fear response (GO:0042596)3.32130320
84positive regulation of neurotransmitter transport (GO:0051590)3.31480982
85axonal fasciculation (GO:0007413)3.31301226
86learning (GO:0007612)3.30097084
87* membrane depolarization during action potential (GO:0086010)3.26598401
88regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.26471285
89prepulse inhibition (GO:0060134)3.25938999
90membrane hyperpolarization (GO:0060081)3.24284476
91regulation of dendritic spine development (GO:0060998)3.21461397
92dendritic spine organization (GO:0097061)3.19604378
93regulation of neurotransmitter levels (GO:0001505)3.19570572
94response to auditory stimulus (GO:0010996)3.19302934
95regulation of vesicle fusion (GO:0031338)3.18241226
96cerebellar granule cell differentiation (GO:0021707)3.16929680
97cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.16445835
98activation of protein kinase A activity (GO:0034199)3.15533798
99regulation of neurotransmitter transport (GO:0051588)3.15411193
100regulation of action potential (GO:0098900)3.15095675
101negative regulation of dendrite development (GO:2000171)3.13876261
102regulation of synapse maturation (GO:0090128)3.11455240
103innervation (GO:0060384)3.11192494
104regulation of synaptic transmission (GO:0050804)3.11152430
105dendrite morphogenesis (GO:0048813)3.10204820
106sodium ion export (GO:0071436)3.09570758
107neuronal action potential (GO:0019228)3.09506086
108positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.08675341
109positive regulation of synaptic transmission (GO:0050806)3.08459305
110long term synaptic depression (GO:0060292)3.08420290
111neuromuscular process controlling posture (GO:0050884)3.07728255
112positive regulation of synapse assembly (GO:0051965)3.06830246
113positive regulation of dendritic spine development (GO:0060999)3.06207868
114regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.05926715
115* synaptic transmission (GO:0007268)3.04734414
116positive regulation of dendritic spine morphogenesis (GO:0061003)3.03261840
117neuronal ion channel clustering (GO:0045161)3.02812375
118serotonin metabolic process (GO:0042428)3.02552818
119mechanosensory behavior (GO:0007638)3.01607810
120neuromuscular process (GO:0050905)3.01414219
121behavioral response to pain (GO:0048266)2.96766092
122synapse assembly (GO:0007416)2.96561502

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.47879340
2GBX2_23144817_ChIP-Seq_PC3_Human4.06851249
3* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.06553198
4* JARID2_20064375_ChIP-Seq_MESCs_Mouse3.03017239
5* SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.99027821
6DROSHA_22980978_ChIP-Seq_HELA_Human2.66459166
7* REST_21632747_ChIP-Seq_MESCs_Mouse2.62611749
8* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.61709425
9* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.61709425
10* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.59752600
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.56096816
12* RARB_27405468_Chip-Seq_BRAIN_Mouse2.55081429
13* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.46301551
14* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.41014195
15EZH2_27304074_Chip-Seq_ESCs_Mouse2.39930883
16* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.37256995
17* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.34061383
18IKZF1_21737484_ChIP-ChIP_HCT116_Human2.30244074
19* EED_16625203_ChIP-ChIP_MESCs_Mouse2.25572339
20ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.15835720
21* RNF2_27304074_Chip-Seq_ESCs_Mouse2.12366751
22EZH2_27294783_Chip-Seq_ESCs_Mouse2.12043008
23* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.09878691
24* REST_18959480_ChIP-ChIP_MESCs_Mouse2.03999713
25GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.94804939
26SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.94474041
27MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.83980623
28CTBP2_25329375_ChIP-Seq_LNCAP_Human1.83554009
29CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.83023026
30AR_21572438_ChIP-Seq_LNCaP_Human1.82803666
31TAF15_26573619_Chip-Seq_HEK293_Human1.77375231
32* SMAD4_21799915_ChIP-Seq_A2780_Human1.76711542
33CTBP1_25329375_ChIP-Seq_LNCAP_Human1.75498139
34EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.68440721
35ZFP57_27257070_Chip-Seq_ESCs_Mouse1.63447569
36* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.53721897
37* P300_19829295_ChIP-Seq_ESCs_Human1.50394922
38NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.49420103
39GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.48205339
40SMAD_19615063_ChIP-ChIP_OVARY_Human1.45059014
41SMAD3_21741376_ChIP-Seq_EPCs_Human1.41114176
42TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.38683963
43VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.37135120
44STAT3_23295773_ChIP-Seq_U87_Human1.36914091
45* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.34412020
46SOX2_21211035_ChIP-Seq_LN229_Gbm1.33886325
47ZNF274_21170338_ChIP-Seq_K562_Hela1.33799085
48* AR_25329375_ChIP-Seq_VCAP_Human1.31634553
49TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.31586864
50PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.30655414
51* RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.28987271
52ERG_21242973_ChIP-ChIP_JURKAT_Human1.28425957
53AR_19668381_ChIP-Seq_PC3_Human1.26646093
54TCF4_23295773_ChIP-Seq_U87_Human1.23831348
55PIAS1_25552417_ChIP-Seq_VCAP_Human1.22980863
56NR3C1_23031785_ChIP-Seq_PC12_Mouse1.22785987
57* CBX2_27304074_Chip-Seq_ESCs_Mouse1.21000057
58* RING1B_27294783_Chip-Seq_ESCs_Mouse1.19107783
59OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.18799737
60TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.17470634
61TOP2B_26459242_ChIP-Seq_MCF-7_Human1.17140218
62BMI1_23680149_ChIP-Seq_NPCS_Mouse1.16642320
63* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.16406701
64POU3F2_20337985_ChIP-ChIP_501MEL_Human1.16220354
65ZNF217_24962896_ChIP-Seq_MCF-7_Human1.16071172
66ARNT_22903824_ChIP-Seq_MCF-7_Human1.15796281
67* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.13449605
68WT1_25993318_ChIP-Seq_PODOCYTE_Human1.13320572
69LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.10968316
70AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.10327440
71AHR_22903824_ChIP-Seq_MCF-7_Human1.09931153
72P53_22127205_ChIP-Seq_FIBROBLAST_Human1.09737054
73* TP53_16413492_ChIP-PET_HCT116_Human1.09117634
74PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.08078281
75SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.07966553
76* YAP1_20516196_ChIP-Seq_MESCs_Mouse1.07308318
77IGF1R_20145208_ChIP-Seq_DFB_Human1.07076101
78VDR_22108803_ChIP-Seq_LS180_Human1.07036930
79DNAJC2_21179169_ChIP-ChIP_NT2_Human1.05940433
80SOX9_26525672_Chip-Seq_HEART_Mouse1.05284761
81NR3C1_21868756_ChIP-Seq_MCF10A_Human1.03988917
82RNF2_27304074_Chip-Seq_NSC_Mouse1.03925164
83FUS_26573619_Chip-Seq_HEK293_Human1.03859625
84* PRDM14_20953172_ChIP-Seq_ESCs_Human1.03833496
85* KDM2B_26808549_Chip-Seq_REH_Human1.03773003
86MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.03243585
87CBP_20019798_ChIP-Seq_JUKART_Human1.02998629
88IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.02998629
89RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.02971382
90* RUNX2_22187159_ChIP-Seq_PCA_Human1.02793836
91* TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.02591621
92RING1B_27294783_Chip-Seq_NPCs_Mouse1.02129714
93POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.01845770
94TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.01845770
95RXR_22108803_ChIP-Seq_LS180_Human1.00540757
96CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.00340030
97SMAD3_21741376_ChIP-Seq_HESCs_Human1.00011637
98* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.98408639
99CDX2_19796622_ChIP-Seq_MESCs_Mouse0.98180754
100* NANOG_18555785_Chip-Seq_ESCs_Mouse0.97787473
101BCAT_22108803_ChIP-Seq_LS180_Human0.97414507
102TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.96921268
103HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.94157139
104UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.93838295
105TP53_18474530_ChIP-ChIP_U2OS_Human0.93544299
106SMAD3_21741376_ChIP-Seq_ESCs_Human0.93487862
107* KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.93386461
108CTNNB1_20460455_ChIP-Seq_HCT116_Human0.92327827
109* CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.91050120
110* SMAD4_21741376_ChIP-Seq_HESCs_Human0.90638709
111BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.89882389
112JUN_21703547_ChIP-Seq_K562_Human0.88918130

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity7.09853171
2MP0003880_abnormal_central_pattern5.06954625
3* MP0003635_abnormal_synaptic_transmissio4.34321367
4MP0009745_abnormal_behavioral_response3.75838998
5MP0004270_analgesia3.64559054
6MP0002063_abnormal_learning/memory/cond3.52119264
7MP0002064_seizures3.32515688
8MP0009046_muscle_twitch3.30261914
9MP0002822_catalepsy3.21743275
10MP0001968_abnormal_touch/_nociception3.15184965
11* MP0002572_abnormal_emotion/affect_behav3.03104458
12MP0002272_abnormal_nervous_system2.73420667
13MP0005423_abnormal_somatic_nervous2.73063445
14MP0001486_abnormal_startle_reflex2.69691756
15MP0001501_abnormal_sleep_pattern2.61340333
16MP0002734_abnormal_mechanical_nocicepti2.50517954
17MP0002736_abnormal_nociception_after2.44837348
18MP0002735_abnormal_chemical_nociception2.41968725
19MP0001440_abnormal_grooming_behavior2.22984386
20* MP0002067_abnormal_sensory_capabilities2.01067775
21MP0003787_abnormal_imprinting1.98878246
22MP0008569_lethality_at_weaning1.97900156
23MP0003879_abnormal_hair_cell1.92855501
24MP0001970_abnormal_pain_threshold1.87621026
25MP0005646_abnormal_pituitary_gland1.87166421
26MP0002733_abnormal_thermal_nociception1.87025549
27MP0002184_abnormal_innervation1.79721827
28MP0002557_abnormal_social/conspecific_i1.78784491
29MP0005386_behavior/neurological_phenoty1.72114870
30MP0004924_abnormal_behavior1.72114870
31MP0000778_abnormal_nervous_system1.67752701
32MP0004811_abnormal_neuron_physiology1.65097627
33MP0009780_abnormal_chondrocyte_physiolo1.63925663
34MP0005645_abnormal_hypothalamus_physiol1.59858679
35MP0002909_abnormal_adrenal_gland1.57684440
36MP0001984_abnormal_olfaction1.48318080
37MP0006276_abnormal_autonomic_nervous1.47197602
38MP0004858_abnormal_nervous_system1.42557961
39MP0001188_hyperpigmentation1.42465009
40MP0001529_abnormal_vocalization1.42152243
41MP0000569_abnormal_digit_pigmentation1.40956272
42MP0003633_abnormal_nervous_system1.40126062
43MP0000955_abnormal_spinal_cord1.38926062
44* MP0002066_abnormal_motor_capabilities/c1.38712944
45MP0004885_abnormal_endolymph1.36296282
46MP0003329_amyloid_beta_deposits1.32299198
47MP0002882_abnormal_neuron_morphology1.32200386
48MP0004142_abnormal_muscle_tone1.30411915
49MP0001905_abnormal_dopamine_level1.27947930
50MP0001502_abnormal_circadian_rhythm1.23777165
51MP0003631_nervous_system_phenotype1.16420895
52MP0003122_maternal_imprinting1.12049666
53MP0008872_abnormal_physiological_respon1.10971778
54MP0004145_abnormal_muscle_electrophysio1.05991891
55MP0002152_abnormal_brain_morphology1.04474610
56MP0003121_genomic_imprinting0.96769147
57MP0001177_atelectasis0.96366216
58* MP0008874_decreased_physiological_sensi0.95844257
59MP0004742_abnormal_vestibular_system0.95158552
60MP0005409_darkened_coat_color0.92776353
61MP0002069_abnormal_eating/drinking_beha0.91248210
62MP0004085_abnormal_heartbeat0.87654591
63MP0003075_altered_response_to0.87630345
64MP0003890_abnormal_embryonic-extraembry0.87339297
65MP0004510_myositis0.85837228
66MP0002229_neurodegeneration0.84994410
67MP0004147_increased_porphyrin_level0.82789253
68MP0001963_abnormal_hearing_physiology0.82486605
69MP0003861_abnormal_nervous_system0.81668842
70MP0010386_abnormal_urinary_bladder0.80042824
71MP0001348_abnormal_lacrimal_gland0.78257211
72MP0003690_abnormal_glial_cell0.77596404
73MP0000751_myopathy0.77192278
74MP0001485_abnormal_pinna_reflex0.76989011
75MP0005623_abnormal_meninges_morphology0.76713707
76MP0003632_abnormal_nervous_system0.76696938
77MP0005551_abnormal_eye_electrophysiolog0.76310954
78MP0002751_abnormal_autonomic_nervous0.75665893
79MP0005535_abnormal_body_temperature0.75181278
80MP0008961_abnormal_basal_metabolism0.73225665
81MP0002277_abnormal_respiratory_mucosa0.72325514
82MP0002876_abnormal_thyroid_physiology0.72190911
83MP0004130_abnormal_muscle_cell0.69269379
84MP0004484_altered_response_of0.68869570
85MP0000920_abnormal_myelination0.67629363
86MP0005394_taste/olfaction_phenotype0.67319833
87MP0005499_abnormal_olfactory_system0.67319833
88MP0001986_abnormal_taste_sensitivity0.67206105
89MP0000631_abnormal_neuroendocrine_gland0.67023697
90MP0001664_abnormal_digestion0.65022155
91MP0005171_absent_coat_pigmentation0.64717578
92MP0002752_abnormal_somatic_nervous0.63663454
93MP0004215_abnormal_myocardial_fiber0.63327503
94MP0002638_abnormal_pupillary_reflex0.62776670
95MP0003045_fibrosis0.62100108
96MP0006292_abnormal_olfactory_placode0.60911071
97MP0000026_abnormal_inner_ear0.58685425
98MP0003634_abnormal_glial_cell0.58427109
99MP0003283_abnormal_digestive_organ0.56612618
100MP0004133_heterotaxia0.55435148
101MP0010769_abnormal_survival0.53705385
102MP0005167_abnormal_blood-brain_barrier0.53386249
103MP0004043_abnormal_pH_regulation0.52269970
104MP0003172_abnormal_lysosome_physiology0.52250768
105MP0003137_abnormal_impulse_conducting0.51609689
106MP0010770_preweaning_lethality0.50942058
107MP0002082_postnatal_lethality0.50942058
108MP0010768_mortality/aging0.50806958
109MP0008877_abnormal_DNA_methylation0.50674279
110MP0003868_abnormal_feces_composition0.50524831
111MP0002653_abnormal_ependyma_morphology0.49806332
112MP0001943_abnormal_respiration0.49717020
113MP0003183_abnormal_peptide_metabolism0.49590538
114MP0000604_amyloidosis0.48621332
115MP0002090_abnormal_vision0.48510491
116MP0003646_muscle_fatigue0.48419946
117MP0002234_abnormal_pharynx_morphology0.48038697
118MP0002081_perinatal_lethality0.46592827

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)9.09644166
2Myokymia (HP:0002411)7.02108574
3Focal seizures (HP:0007359)6.41190681
4Epileptic encephalopathy (HP:0200134)5.38205805
5Febrile seizures (HP:0002373)5.17913564
6Progressive cerebellar ataxia (HP:0002073)5.01397170
7Visual hallucinations (HP:0002367)4.91595732
8Atonic seizures (HP:0010819)4.72244946
9Absence seizures (HP:0002121)4.38688425
10Broad-based gait (HP:0002136)4.25305099
11Gaze-evoked nystagmus (HP:0000640)4.21211509
12Dialeptic seizures (HP:0011146)4.16465523
13Action tremor (HP:0002345)4.11141264
14Generalized tonic-clonic seizures (HP:0002069)4.10598198
15Hyperventilation (HP:0002883)3.87042976
16Poor eye contact (HP:0000817)3.57459520
17Impaired vibration sensation in the lower limbs (HP:0002166)3.52828077
18Dysmetria (HP:0001310)3.36433499
19Dysdiadochokinesis (HP:0002075)3.34557002
20Genetic anticipation (HP:0003743)3.30133285
21Truncal ataxia (HP:0002078)3.29642561
22Impaired smooth pursuit (HP:0007772)3.21984153
23Impaired social interactions (HP:0000735)3.18601853
24Abnormal social behavior (HP:0012433)3.18601853
25Scanning speech (HP:0002168)3.15433143
26Urinary bladder sphincter dysfunction (HP:0002839)3.14116088
27Postural instability (HP:0002172)3.07674886
28Depression (HP:0000716)3.07493608
29Amblyopia (HP:0000646)3.03776718
30Excessive salivation (HP:0003781)2.97743483
31Drooling (HP:0002307)2.97743483
32Supranuclear gaze palsy (HP:0000605)2.95546659
33Dysmetric saccades (HP:0000641)2.89202097
34Anxiety (HP:0000739)2.88156438
35Ankle clonus (HP:0011448)2.87008669
36Abnormality of ocular smooth pursuit (HP:0000617)2.80522545
37Abnormal eating behavior (HP:0100738)2.78098318
38Abnormality of binocular vision (HP:0011514)2.78093130
39Diplopia (HP:0000651)2.78093130
40Gait imbalance (HP:0002141)2.77752550
41Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.73711067
42Stereotypic behavior (HP:0000733)2.70851612
43Epileptiform EEG discharges (HP:0011182)2.69979580
44Papilledema (HP:0001085)2.66387724
45Akinesia (HP:0002304)2.66102001
46Hemiplegia (HP:0002301)2.62703097
47Hemiparesis (HP:0001269)2.61316117
48Absent speech (HP:0001344)2.59397031
49Amyotrophic lateral sclerosis (HP:0007354)2.57409738
50Mutism (HP:0002300)2.55330499
51Abnormality of the lower motor neuron (HP:0002366)2.49775971
52Torticollis (HP:0000473)2.49735543
53Impaired vibratory sensation (HP:0002495)2.49048910
54Intention tremor (HP:0002080)2.41485942
55Protruding tongue (HP:0010808)2.39984715
56Bradykinesia (HP:0002067)2.38193079
57Urinary urgency (HP:0000012)2.37358380
58Chin dimple (HP:0010751)2.37334543
59Fetal akinesia sequence (HP:0001989)2.36954966
60Focal dystonia (HP:0004373)2.34320144
61EEG with generalized epileptiform discharges (HP:0011198)2.34060515
62Spastic gait (HP:0002064)2.32184118
63Status epilepticus (HP:0002133)2.31156623
64Aplasia/Hypoplasia of the brainstem (HP:0007362)2.30183924
65Hypoplasia of the brainstem (HP:0002365)2.30183924
66Progressive inability to walk (HP:0002505)2.29671778
67Lissencephaly (HP:0001339)2.21249940
68Blue irides (HP:0000635)2.20804113
69Morphological abnormality of the pyramidal tract (HP:0002062)2.19434607
70Incomplete penetrance (HP:0003829)2.17233891
71Hypsarrhythmia (HP:0002521)2.15794318
72Intellectual disability, severe (HP:0010864)2.14937581
73Annular pancreas (HP:0001734)2.14493437
74Inability to walk (HP:0002540)2.12356319
75Lower limb amyotrophy (HP:0007210)2.06601361
76Abnormality of salivation (HP:0100755)2.05519873
77Submucous cleft hard palate (HP:0000176)2.03922488
78Pointed chin (HP:0000307)2.02647454
79Inappropriate behavior (HP:0000719)1.99011808
80Abnormality of saccadic eye movements (HP:0000570)1.98665640
81Spastic tetraplegia (HP:0002510)1.97728141
82Craniofacial dystonia (HP:0012179)1.97395844
83Gait ataxia (HP:0002066)1.96960505
84Decreased circulating renin level (HP:0003351)1.96639486
85Abnormality of the labia minora (HP:0012880)1.96268201
86Abnormal EKG (HP:0003115)1.96251078
87Aqueductal stenosis (HP:0002410)1.94927129
88Exotropia (HP:0000577)1.94375743
89Generalized hypopigmentation of hair (HP:0011358)1.94165840
90Widely spaced teeth (HP:0000687)1.92322742
91Generalized myoclonic seizures (HP:0002123)1.92138960
92Retinal dysplasia (HP:0007973)1.91278130
93Abnormality of the corticospinal tract (HP:0002492)1.90384987
94Lower limb muscle weakness (HP:0007340)1.89991744
95Ventricular fibrillation (HP:0001663)1.88932383
96Hypoplasia of the corpus callosum (HP:0002079)1.86785402
97Esotropia (HP:0000565)1.86135827
98Obstructive sleep apnea (HP:0002870)1.85730019
99Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.83774060
100Degeneration of the lateral corticospinal tracts (HP:0002314)1.83774060
101Polyphagia (HP:0002591)1.81697136
102Psychosis (HP:0000709)1.81262004
103Cutaneous finger syndactyly (HP:0010554)1.80833984
104Tented upper lip vermilion (HP:0010804)1.79888210
105Paraplegia (HP:0010550)1.79387978
106Neuronal loss in central nervous system (HP:0002529)1.78452980
107Cerebral inclusion bodies (HP:0100314)1.77847842
108Spastic paraplegia (HP:0001258)1.76092712
109Fair hair (HP:0002286)1.75870286
110Termporal pattern (HP:0011008)1.74931214
111Insidious onset (HP:0003587)1.74931214
112Resting tremor (HP:0002322)1.74771196
113Medial flaring of the eyebrow (HP:0010747)1.74759924
114Deeply set eye (HP:0000490)1.74745503
115Dynein arm defect of respiratory motile cilia (HP:0012255)1.73427689
116Absent/shortened dynein arms (HP:0200106)1.73427689
117Pachygyria (HP:0001302)1.73239755
118Specific learning disability (HP:0001328)1.72344842
119Agitation (HP:0000713)1.71818771
120Syncope (HP:0001279)1.71670834
121Increased circulating renin level (HP:0000848)1.71385149
122Autism (HP:0000717)1.70641349
123Limb dystonia (HP:0002451)1.70586670
124Neurofibrillary tangles (HP:0002185)1.69878924
125Congenital primary aphakia (HP:0007707)1.69454538
126Prolonged QT interval (HP:0001657)1.68501606
127Megalencephaly (HP:0001355)1.68341249

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK35.70717853
2EPHA45.13670106
3MAP3K93.25870582
4MAP3K42.91725745
5MAP2K72.56728378
6DAPK22.46090642
7CASK2.45104497
8TNIK2.41778586
9RIPK42.41525893
10MARK12.33714080
11MINK12.27159135
12PRPF4B2.17494308
13NTRK22.02478499
14DAPK11.97215580
15MAP3K121.85946891
16PAK61.79744411
17MAP2K41.76634889
18SIK21.73792785
19CAMKK11.69582129
20KSR21.61047117
21KSR11.58448660
22DYRK21.52163182
23CDK51.50394076
24FES1.48884995
25PRKD31.46968107
26CDK191.44995786
27MAP3K131.44526407
28FRK1.42385569
29PLK21.41419622
30NTRK11.36775297
31STK381.35549428
32PRKCG1.25822996
33SGK21.20422404
34SIK31.18531358
35CAMKK21.18363154
36CAMK2A1.13076775
37CAMK11.10177158
38CAMK2B1.08397688
39SGK4941.07892110
40SGK2231.07892110
41GRK51.06748598
42BMPR21.05681761
43SGK30.98434562
44BCR0.98196956
45PKN10.98176465
46PNCK0.93479139
47SGK10.92708489
48MARK20.91207816
49ARAF0.90377165
50PTK2B0.89796333
51MAP3K20.88597284
52STK110.85984952
53TAOK10.81188976
54PRKCH0.79221504
55UHMK10.78958122
56CDK180.77419337
57TYRO30.76363749
58RAF10.75554157
59CDK150.74177924
60PDK10.73889377
61AKT30.73805889
62OXSR10.73147340
63TNK20.71999132
64DYRK1A0.68023731
65CDK140.65302322
66LATS20.64919271
67CDC42BPA0.63851258
68MAP3K70.63105801
69CDK11A0.62841381
70NEK60.61313995
71CSNK1G20.60845934
72CAMK40.60618851
73PDPK10.60033147
74ALK0.56523156
75FGR0.55642444
76CAMK1G0.55056083
77RET0.54011559
78WNK10.53297920
79RPS6KA30.53169584
80PINK10.52419517
81* MAPK130.52027979
82FYN0.51064056
83INSRR0.51009262
84CAMK2D0.49012763
85PRKCE0.47914330
86MAPK40.46763178
87PAK30.46617435
88CSNK1D0.45028567
89PHKG20.44795795
90PHKG10.44795795
91MAPK100.41545235
92CCNB10.40479929
93MAP3K10.40432699
94PRKCZ0.40313090
95DMPK0.39663747
96TAOK30.39595209
97TAOK20.38805860
98CAMK2G0.38450710
99MAP4K20.38314006
100MAPK80.37722884
101PRKCB0.36834962
102PRKACA0.36515076
103MAP3K110.35464825
104RPS6KB10.35244983
105CSNK1A1L0.34449797
106SYK0.33298758
107WNK30.33241906
108CAMK1D0.32969319
109PRKCA0.32605076
110CDK30.32585530
111PRKG10.32233592
112MAP3K60.31657790
113MAP2K10.31612478
114MAPK120.31464455
115FER0.30945037
116BRAF0.30036401
117CSNK1A10.29741486
118GRK10.28994981
119ADRBK20.28433869
120PRKACB0.27429896
121* GSK3B0.26593541
122PRKAA10.26370127
123CSNK1G30.24069894
124ROCK20.23779829

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.23746810
2Circadian entrainment_Homo sapiens_hsa047132.99009047
3Long-term potentiation_Homo sapiens_hsa047202.93035027
4Synaptic vesicle cycle_Homo sapiens_hsa047212.92291917
5Glutamatergic synapse_Homo sapiens_hsa047242.85238912
6Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.85095759
7Olfactory transduction_Homo sapiens_hsa047402.79000821
8Morphine addiction_Homo sapiens_hsa050322.70500541
9Amphetamine addiction_Homo sapiens_hsa050312.69316892
10GABAergic synapse_Homo sapiens_hsa047272.68573684
11Salivary secretion_Homo sapiens_hsa049702.33687256
12Dopaminergic synapse_Homo sapiens_hsa047282.19271379
13Insulin secretion_Homo sapiens_hsa049112.01045604
14Taste transduction_Homo sapiens_hsa047421.94674455
15Aldosterone synthesis and secretion_Homo sapiens_hsa049251.94402330
16Cholinergic synapse_Homo sapiens_hsa047251.93792796
17Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.89391001
18Gastric acid secretion_Homo sapiens_hsa049711.85623731
19Long-term depression_Homo sapiens_hsa047301.82773134
20* Calcium signaling pathway_Homo sapiens_hsa040201.79611567
21Cocaine addiction_Homo sapiens_hsa050301.78025778
22Renin secretion_Homo sapiens_hsa049241.73449825
23Serotonergic synapse_Homo sapiens_hsa047261.72540899
24Oxytocin signaling pathway_Homo sapiens_hsa049211.72404263
25Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.57998906
26GnRH signaling pathway_Homo sapiens_hsa049121.42938817
27cAMP signaling pathway_Homo sapiens_hsa040241.42274578
28Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.39193719
29Phosphatidylinositol signaling system_Homo sapiens_hsa040701.33437718
30Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.29249589
31Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.26986250
32Gap junction_Homo sapiens_hsa045401.24157370
33Collecting duct acid secretion_Homo sapiens_hsa049661.16522731
34cGMP-PKG signaling pathway_Homo sapiens_hsa040221.10172514
35* Type II diabetes mellitus_Homo sapiens_hsa049301.10162671
36Axon guidance_Homo sapiens_hsa043601.08678981
37Glioma_Homo sapiens_hsa052141.08509920
38Estrogen signaling pathway_Homo sapiens_hsa049151.07655468
39ErbB signaling pathway_Homo sapiens_hsa040121.02736082
40Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.01173565
41Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.00646245
42Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.96361671
43Vascular smooth muscle contraction_Homo sapiens_hsa042700.96000220
44Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.94585875
45Pancreatic secretion_Homo sapiens_hsa049720.94561736
46Melanogenesis_Homo sapiens_hsa049160.93626073
47Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.90876576
48Phospholipase D signaling pathway_Homo sapiens_hsa040720.90709560
49Choline metabolism in cancer_Homo sapiens_hsa052310.79000262
50Thyroid hormone synthesis_Homo sapiens_hsa049180.75107553
51Dilated cardiomyopathy_Homo sapiens_hsa054140.74321441
52* MAPK signaling pathway_Homo sapiens_hsa040100.74063015
53Oocyte meiosis_Homo sapiens_hsa041140.71422278
54Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.70998555
55Dorso-ventral axis formation_Homo sapiens_hsa043200.70353167
56Cardiac muscle contraction_Homo sapiens_hsa042600.68809553
57Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.67487984
58Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.66526765
59Vibrio cholerae infection_Homo sapiens_hsa051100.66053731
60Phototransduction_Homo sapiens_hsa047440.63822048
61Neurotrophin signaling pathway_Homo sapiens_hsa047220.62744924
62Ras signaling pathway_Homo sapiens_hsa040140.61764593
63Inositol phosphate metabolism_Homo sapiens_hsa005620.59930755
64Rap1 signaling pathway_Homo sapiens_hsa040150.59820069
65VEGF signaling pathway_Homo sapiens_hsa043700.58162061
66Circadian rhythm_Homo sapiens_hsa047100.57725303
67African trypanosomiasis_Homo sapiens_hsa051430.56301047
68Carbohydrate digestion and absorption_Homo sapiens_hsa049730.54570116
69Alcoholism_Homo sapiens_hsa050340.53211701
70ABC transporters_Homo sapiens_hsa020100.51534709
71Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.51025122
72Thyroid hormone signaling pathway_Homo sapiens_hsa049190.50575869
73Glucagon signaling pathway_Homo sapiens_hsa049220.50149018
74Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.49533573
75Butanoate metabolism_Homo sapiens_hsa006500.47406116
76Sphingolipid signaling pathway_Homo sapiens_hsa040710.47380140
77Ether lipid metabolism_Homo sapiens_hsa005650.46885062
78Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.46820410
79Nitrogen metabolism_Homo sapiens_hsa009100.46463693
80Non-small cell lung cancer_Homo sapiens_hsa052230.46018775
81Chemokine signaling pathway_Homo sapiens_hsa040620.45768501
82Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.44211866
83Type I diabetes mellitus_Homo sapiens_hsa049400.43882444
84mTOR signaling pathway_Homo sapiens_hsa041500.43686111
85Wnt signaling pathway_Homo sapiens_hsa043100.41950640
86Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.41527908
87Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.40092387
88Longevity regulating pathway - mammal_Homo sapiens_hsa042110.38288560
89Ovarian steroidogenesis_Homo sapiens_hsa049130.37989955
90Bile secretion_Homo sapiens_hsa049760.36334496
91Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.35976630
92Endocytosis_Homo sapiens_hsa041440.35215651
93Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.34538149
94Prolactin signaling pathway_Homo sapiens_hsa049170.34523463
95Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.33831730
96Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.33237109
97Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.32112714
98Endometrial cancer_Homo sapiens_hsa052130.31541832
99B cell receptor signaling pathway_Homo sapiens_hsa046620.29431045
100Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.29289853
101Alzheimers disease_Homo sapiens_hsa050100.28940588
102SNARE interactions in vesicular transport_Homo sapiens_hsa041300.28613622
103Platelet activation_Homo sapiens_hsa046110.28461517
104Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.28174614
105Glycerophospholipid metabolism_Homo sapiens_hsa005640.27385064
106Colorectal cancer_Homo sapiens_hsa052100.26624103
107Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.26506413
108Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.25879836
109Fatty acid biosynthesis_Homo sapiens_hsa000610.25877451
110Insulin signaling pathway_Homo sapiens_hsa049100.25652094
111Renal cell carcinoma_Homo sapiens_hsa052110.23854984
112Regulation of autophagy_Homo sapiens_hsa041400.22949461
113Vitamin B6 metabolism_Homo sapiens_hsa007500.22619387

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