CACNG7

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 a type II transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type I TARP and a calcium channel gamma subunit. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)6.79589019
2locomotory exploration behavior (GO:0035641)6.52268278
3regulation of short-term neuronal synaptic plasticity (GO:0048172)6.34099154
4positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.95756234
5positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.75131274
6vocalization behavior (GO:0071625)5.41736549
7glutamate secretion (GO:0014047)5.28975003
8synaptic vesicle docking involved in exocytosis (GO:0016081)5.28470821
9synaptic vesicle exocytosis (GO:0016079)5.23429502
10regulation of synaptic vesicle exocytosis (GO:2000300)5.09909024
11layer formation in cerebral cortex (GO:0021819)5.05824415
12presynaptic membrane assembly (GO:0097105)4.88650021
13presynaptic membrane organization (GO:0097090)4.72311591
14neurotransmitter secretion (GO:0007269)4.70293260
15* regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.69725675
16exploration behavior (GO:0035640)4.68343116
17sodium ion export (GO:0071436)4.62191638
18neuronal action potential propagation (GO:0019227)4.61263397
19dendritic spine morphogenesis (GO:0060997)4.50673798
20gamma-aminobutyric acid transport (GO:0015812)4.50450351
21regulation of synaptic vesicle transport (GO:1902803)4.49230243
22cellular potassium ion homeostasis (GO:0030007)4.47650809
23ionotropic glutamate receptor signaling pathway (GO:0035235)4.47182932
24regulation of neuronal synaptic plasticity (GO:0048168)4.45839841
25regulation of long-term neuronal synaptic plasticity (GO:0048169)4.45642631
26* regulation of glutamate receptor signaling pathway (GO:1900449)4.42970842
27protein localization to synapse (GO:0035418)4.38032819
28regulation of synapse structural plasticity (GO:0051823)4.37607059
29central nervous system myelination (GO:0022010)4.23052311
30axon ensheathment in central nervous system (GO:0032291)4.23052311
31synaptic transmission, glutamatergic (GO:0035249)4.11096753
32neuromuscular process controlling balance (GO:0050885)4.03948305
33long-term memory (GO:0007616)3.96316514
34cerebellar Purkinje cell differentiation (GO:0021702)3.95553639
35glutamate receptor signaling pathway (GO:0007215)3.89290498
36positive regulation of synapse maturation (GO:0090129)3.87733658
37proline transport (GO:0015824)3.85705479
38neuron cell-cell adhesion (GO:0007158)3.83591347
39neurotransmitter-gated ion channel clustering (GO:0072578)3.82134478
40membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.81152406
41amino acid import (GO:0043090)3.78144586
42cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.77585393
43pyrimidine nucleobase catabolic process (GO:0006208)3.77364255
44glycine transport (GO:0015816)3.76729982
45positive regulation of membrane potential (GO:0045838)3.73080374
46neuron-neuron synaptic transmission (GO:0007270)3.71247148
47neurotransmitter transport (GO:0006836)3.69378832
48cerebellar granule cell differentiation (GO:0021707)3.68789828
49cell communication by electrical coupling (GO:0010644)3.67965881
50neuromuscular process controlling posture (GO:0050884)3.64988210
51activation of protein kinase A activity (GO:0034199)3.64883148
52regulation of excitatory postsynaptic membrane potential (GO:0060079)3.61141567
53dendrite morphogenesis (GO:0048813)3.55935497
54response to pheromone (GO:0019236)3.55518084
55regulation of dendritic spine morphogenesis (GO:0061001)3.50776250
56auditory behavior (GO:0031223)3.50103525
57establishment of mitochondrion localization (GO:0051654)3.47971933
58synaptic vesicle endocytosis (GO:0048488)3.46238920
59regulation of synaptic plasticity (GO:0048167)3.43979845
60regulation of neurotransmitter levels (GO:0001505)3.43229934
61regulation of postsynaptic membrane potential (GO:0060078)3.42556500
62regulation of neurotransmitter secretion (GO:0046928)3.41785127
63transmission of nerve impulse (GO:0019226)3.38117736
64regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.36363233
65negative regulation of synaptic transmission, GABAergic (GO:0032229)3.35747547
66positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.35569727
67regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.33132925
68regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.33029475
69regulation of ARF protein signal transduction (GO:0032012)3.32823405
70potassium ion import (GO:0010107)3.32172323
71positive regulation of synapse assembly (GO:0051965)3.30540780
72cell migration in hindbrain (GO:0021535)3.30234805
73establishment of nucleus localization (GO:0040023)3.28572540
74prepulse inhibition (GO:0060134)3.27849533
75L-amino acid import (GO:0043092)3.26913319
76positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.26228296
77response to auditory stimulus (GO:0010996)3.25575355
78neuronal ion channel clustering (GO:0045161)3.20799529
79dendritic spine organization (GO:0097061)3.19535756
80positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.18320842
81neuron recognition (GO:0008038)3.17805525
82regulation of neurotransmitter transport (GO:0051588)3.16896791
83neuromuscular process (GO:0050905)3.16502303
84axonal fasciculation (GO:0007413)3.16054077
85cerebellar Purkinje cell layer development (GO:0021680)3.15523513
86G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.13831285
87membrane depolarization during action potential (GO:0086010)3.12628770
88mechanosensory behavior (GO:0007638)3.12008066
89neuromuscular synaptic transmission (GO:0007274)3.08574760
90regulation of synapse maturation (GO:0090128)3.08003997
91potassium ion homeostasis (GO:0055075)3.07794365
92cellular sodium ion homeostasis (GO:0006883)3.07214793
93long-term synaptic potentiation (GO:0060291)3.05717482
94membrane hyperpolarization (GO:0060081)3.05423737
95innervation (GO:0060384)3.05392422
96regulation of voltage-gated calcium channel activity (GO:1901385)3.05326400
97nucleobase catabolic process (GO:0046113)3.04421089
98regulation of synaptic transmission, glutamatergic (GO:0051966)3.04021188
99positive regulation of dendritic spine development (GO:0060999)3.03670555
100regulation of clathrin-mediated endocytosis (GO:2000369)3.03394820
101positive regulation of synaptic transmission, GABAergic (GO:0032230)3.03153548
102cell differentiation in hindbrain (GO:0021533)3.02513896
103regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.02474980
104membrane depolarization (GO:0051899)3.00957871
105cytoskeletal anchoring at plasma membrane (GO:0007016)3.00413309
106vesicle transport along microtubule (GO:0047496)2.99781840
107regulation of vesicle fusion (GO:0031338)2.99183109
108gamma-aminobutyric acid signaling pathway (GO:0007214)2.97543071
109mitochondrion transport along microtubule (GO:0047497)2.97229144
110establishment of mitochondrion localization, microtubule-mediated (GO:0034643)2.97229144
111postsynaptic membrane organization (GO:0001941)2.96321669
112adult walking behavior (GO:0007628)2.93280317
113mating behavior (GO:0007617)2.91869932
114central nervous system projection neuron axonogenesis (GO:0021952)2.91309906
115positive regulation of dendritic spine morphogenesis (GO:0061003)2.89980597
116positive regulation of neurotransmitter transport (GO:0051590)2.88614296
117regulation of synaptic transmission (GO:0050804)2.86650677
118intraspecies interaction between organisms (GO:0051703)2.86616790

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.65451417
2SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.97699376
3JARID2_20064375_ChIP-Seq_MESCs_Mouse2.93197473
4DROSHA_22980978_ChIP-Seq_HELA_Human2.92860406
5SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.92545143
6RARB_27405468_Chip-Seq_BRAIN_Mouse2.87839386
7EZH2_18974828_ChIP-Seq_MESCs_Mouse2.84697476
8RNF2_18974828_ChIP-Seq_MESCs_Mouse2.84697476
9EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.79633369
10REST_21632747_ChIP-Seq_MESCs_Mouse2.71260322
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.63887376
12MTF2_20144788_ChIP-Seq_MESCs_Mouse2.51548348
13MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.50838281
14SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.47035253
15SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.41853124
16SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.38760446
17EZH2_27304074_Chip-Seq_ESCs_Mouse2.37851229
18SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.36478731
19IKZF1_21737484_ChIP-ChIP_HCT116_Human2.33881885
20EZH2_27294783_Chip-Seq_ESCs_Mouse2.33154045
21GBX2_23144817_ChIP-Seq_PC3_Human2.32938758
22REST_18959480_ChIP-ChIP_MESCs_Mouse2.29683984
23SUZ12_27294783_Chip-Seq_ESCs_Mouse2.27394754
24RNF2_27304074_Chip-Seq_ESCs_Mouse2.26640809
25EED_16625203_ChIP-ChIP_MESCs_Mouse2.16145482
26CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.14266784
27ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.12696351
28NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.10687392
29ERG_21242973_ChIP-ChIP_JURKAT_Human1.99494264
30ZFP281_18757296_ChIP-ChIP_E14_Mouse1.85657148
31KDM2B_26808549_Chip-Seq_K562_Human1.73544898
32AR_21572438_ChIP-Seq_LNCaP_Human1.68279138
33WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.65804657
34GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.62446626
35RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.53686674
36* DNAJC2_21179169_ChIP-ChIP_NT2_Human1.53425316
37ZFP281_27345836_Chip-Seq_ESCs_Mouse1.51799239
38RING1B_27294783_Chip-Seq_ESCs_Mouse1.50220212
39EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.49589024
40RNF2_27304074_Chip-Seq_NSC_Mouse1.44652937
41GATA1_26923725_Chip-Seq_HPCs_Mouse1.43157583
42TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.38801186
43SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.37464420
44TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.36978506
45WT1_25993318_ChIP-Seq_PODOCYTE_Human1.35788467
46RING1B_27294783_Chip-Seq_NPCs_Mouse1.34950058
47SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.34001721
48TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.32147188
49ZNF274_21170338_ChIP-Seq_K562_Hela1.30029942
50* AR_19668381_ChIP-Seq_PC3_Human1.28632110
51GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.24285188
52ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.22740778
53PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.20997542
54KDM2B_26808549_Chip-Seq_SUP-B15_Human1.20545291
55* SMAD4_21799915_ChIP-Seq_A2780_Human1.19470728
56* DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.19225459
57CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.17867645
58CTBP2_25329375_ChIP-Seq_LNCAP_Human1.15948591
59RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.15401494
60* SOX2_21211035_ChIP-Seq_LN229_Gbm1.15281955
61BMI1_23680149_ChIP-Seq_NPCS_Mouse1.13748212
62RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.11670318
63TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.11623818
64SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.07661339
65ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.07354511
66POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.06736702
67TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.06736702
68HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.05603057
69TET1_21490601_ChIP-Seq_MESCs_Mouse1.05202146
70KDM2B_26808549_Chip-Seq_JURKAT_Human1.04748675
71TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.04267603
72NR3C1_23031785_ChIP-Seq_PC12_Mouse1.04022771
73YAP1_20516196_ChIP-Seq_MESCs_Mouse1.02803300
74RBPJ_22232070_ChIP-Seq_NCS_Mouse1.02454196
75EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.01371197
76KDM2B_26808549_Chip-Seq_DND41_Human1.01332872
77PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.00273245
78SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.99148620
79OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.98923649
80CTCF_27219007_Chip-Seq_Bcells_Human0.98775143
81P53_22127205_ChIP-Seq_FIBROBLAST_Human0.97916282
82STAT3_23295773_ChIP-Seq_U87_Human0.97437573
83CTBP1_25329375_ChIP-Seq_LNCAP_Human0.97124713
84THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.96980085
85ZNF217_24962896_ChIP-Seq_MCF-7_Human0.96460820
86ISL1_27105846_Chip-Seq_CPCs_Mouse0.96191109
87SMAD3_21741376_ChIP-Seq_ESCs_Human0.95915169
88SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.95747772
89TP53_20018659_ChIP-ChIP_R1E_Mouse0.94851155
90SMAD4_21741376_ChIP-Seq_HESCs_Human0.93863768
91RUNX1_26923725_Chip-Seq_HPCs_Mouse0.93538609
92POU5F1_16518401_ChIP-PET_MESCs_Mouse0.93509422
93NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.91867640
94LXR_22292898_ChIP-Seq_THP-1_Human0.91713349
95KLF4_19829295_ChIP-Seq_ESCs_Human0.91307825
96SMAD_19615063_ChIP-ChIP_OVARY_Human0.90996866
97SMAD3_21741376_ChIP-Seq_HESCs_Human0.89272549
98POU5F1_18347094_ChIP-ChIP_MESCs_Mouse0.88208331
99MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.88184931
100SMAD3_21741376_ChIP-Seq_EPCs_Human0.88129164
101AR_25329375_ChIP-Seq_VCAP_Human0.87576487
102TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.87539084
103TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.86724760
104RXR_22108803_ChIP-Seq_LS180_Human0.86213922
105SMC4_20622854_ChIP-Seq_HELA_Human0.85714486
106SOX9_26525672_Chip-Seq_HEART_Mouse0.85603995
107ARNT_22903824_ChIP-Seq_MCF-7_Human0.85442147
108AHR_22903824_ChIP-Seq_MCF-7_Human0.85005145
109ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.83838705
110SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.82898925
111* STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.82764416
112* DPY_21335234_ChIP-Seq_ESCs_Mouse0.82710098
113SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.82509753
114NANOG_18347094_ChIP-ChIP_MESCs_Mouse0.82325037
115CTNNB1_20460455_ChIP-Seq_HCT116_Human0.82052821
116CBX2_27304074_Chip-Seq_ESCs_Mouse0.81848890
117NACC1_18358816_ChIP-ChIP_MESCs_Mouse0.81587049
118KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.81581619
119TCF4_23295773_ChIP-Seq_U87_Human0.81300598
120TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.81285907
121LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.81201808
122POU5F1_16153702_ChIP-ChIP_HESCs_Human0.80268987
123CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.80106189
124TP53_16413492_ChIP-PET_HCT116_Human0.79549801
125OCT4_19829295_ChIP-Seq_ESCs_Human0.79354733
126SOX3_22085726_ChIP-Seq_NPCs_Mouse0.79007280
127* CREB1_26743006_Chip-Seq_LNCaP_Human0.78594958
128POU3F1_26484290_ChIP-Seq_ESCss_Mouse0.77174067
129TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.75931364

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity7.02956881
2MP0003635_abnormal_synaptic_transmissio4.23778053
3MP0003880_abnormal_central_pattern3.90523929
4MP0004270_analgesia3.74258251
5MP0009046_muscle_twitch3.37502224
6MP0002063_abnormal_learning/memory/cond3.23878585
7MP0009745_abnormal_behavioral_response3.23486971
8MP0002064_seizures3.11808368
9MP0005423_abnormal_somatic_nervous3.06243107
10MP0001968_abnormal_touch/_nociception2.65301610
11MP0002734_abnormal_mechanical_nocicepti2.61449581
12MP0002572_abnormal_emotion/affect_behav2.57349193
13MP0001486_abnormal_startle_reflex2.53797872
14MP0002272_abnormal_nervous_system2.53256518
15MP0008569_lethality_at_weaning2.35130926
16MP0002822_catalepsy2.31619363
17MP0004858_abnormal_nervous_system2.15358260
18MP0009780_abnormal_chondrocyte_physiolo2.06692235
19MP0001501_abnormal_sleep_pattern2.02131068
20MP0004885_abnormal_endolymph2.00508186
21MP0002733_abnormal_thermal_nociception1.93198681
22MP0004811_abnormal_neuron_physiology1.92794552
23MP0001440_abnormal_grooming_behavior1.92143752
24MP0002067_abnormal_sensory_capabilities1.89431310
25MP0003329_amyloid_beta_deposits1.88380334
26MP0000778_abnormal_nervous_system1.88071953
27MP0002736_abnormal_nociception_after1.85395537
28MP0002184_abnormal_innervation1.85270695
29MP0001970_abnormal_pain_threshold1.82213403
30MP0000955_abnormal_spinal_cord1.79629414
31MP0002735_abnormal_chemical_nociception1.73087758
32MP0002909_abnormal_adrenal_gland1.71413620
33MP0002557_abnormal_social/conspecific_i1.69489814
34MP0000566_synostosis1.67568832
35MP0006292_abnormal_olfactory_placode1.62233456
36MP0003283_abnormal_digestive_organ1.60069874
37MP0005386_behavior/neurological_phenoty1.57926665
38MP0004924_abnormal_behavior1.57926665
39MP0002882_abnormal_neuron_morphology1.51014963
40MP0003136_yellow_coat_color1.47830969
41MP0002066_abnormal_motor_capabilities/c1.47473868
42MP0009379_abnormal_foot_pigmentation1.42031851
43MP0003879_abnormal_hair_cell1.40613626
44MP0003633_abnormal_nervous_system1.39234813
45MP0004145_abnormal_muscle_electrophysio1.38283114
46MP0003787_abnormal_imprinting1.33891365
47MP0002152_abnormal_brain_morphology1.30444865
48MP0000569_abnormal_digit_pigmentation1.28526106
49MP0005623_abnormal_meninges_morphology1.26375171
50MP0003938_abnormal_ear_development1.23803487
51MP0003631_nervous_system_phenotype1.22647470
52MP0003122_maternal_imprinting1.22520473
53MP0003121_genomic_imprinting1.21182514
54MP0001529_abnormal_vocalization1.19980975
55MP0004142_abnormal_muscle_tone1.19953731
56MP0005646_abnormal_pituitary_gland1.19325138
57MP0008961_abnormal_basal_metabolism1.15461844
58MP0001502_abnormal_circadian_rhythm1.14144106
59MP0003632_abnormal_nervous_system1.10129805
60MP0001346_abnormal_lacrimal_gland1.08573418
61MP0001984_abnormal_olfaction1.07926598
62MP0003690_abnormal_glial_cell1.07492969
63MP0001188_hyperpigmentation1.06584150
64MP0000579_abnormal_nail_morphology1.04108093
65MP0002653_abnormal_ependyma_morphology1.03101699
66MP0004133_heterotaxia1.02693704
67MP0001177_atelectasis1.01512408
68MP0004233_abnormal_muscle_weight1.00568951
69MP0000751_myopathy1.00550899
70MP0003634_abnormal_glial_cell0.97758800
71MP0000026_abnormal_inner_ear0.95501954
72MP0002229_neurodegeneration0.95160503
73MP0005645_abnormal_hypothalamus_physiol0.94996475
74MP0000920_abnormal_myelination0.93841183
75MP0001299_abnormal_eye_distance/0.93349859
76MP0006276_abnormal_autonomic_nervous0.92950765
77MP0003075_altered_response_to0.91868056
78MP0008872_abnormal_physiological_respon0.91589327
79MP0002089_abnormal_postnatal_growth/wei0.90459859
80MP0003119_abnormal_digestive_system0.89468503
81MP0002069_abnormal_eating/drinking_beha0.89420206
82MP0002638_abnormal_pupillary_reflex0.89388042
83MP0005167_abnormal_blood-brain_barrier0.89237660
84MP0002249_abnormal_larynx_morphology0.88273434
85MP0005187_abnormal_penis_morphology0.87239940
86MP0005394_taste/olfaction_phenotype0.85904552
87MP0005499_abnormal_olfactory_system0.85904552
88MP0005551_abnormal_eye_electrophysiolog0.85276498
89MP0010030_abnormal_orbit_morphology0.84696428
90MP0003861_abnormal_nervous_system0.84482488
91MP0004742_abnormal_vestibular_system0.82797385
92MP0000049_abnormal_middle_ear0.81903379
93MP0008877_abnormal_DNA_methylation0.81162649
94MP0000013_abnormal_adipose_tissue0.80661665
95MP0008874_decreased_physiological_sensi0.78322994
96MP0002081_perinatal_lethality0.75473474
97MP0002752_abnormal_somatic_nervous0.75344152
98MP0003137_abnormal_impulse_conducting0.74037347
99MP0002090_abnormal_vision0.73583973
100MP0001293_anophthalmia0.73262415
101MP0004085_abnormal_heartbeat0.72650234
102MP0000604_amyloidosis0.70854533
103MP0000537_abnormal_urethra_morphology0.70643057
104MP0001348_abnormal_lacrimal_gland0.70149363
105MP0000631_abnormal_neuroendocrine_gland0.70043318
106MP0010234_abnormal_vibrissa_follicle0.69739781
107MP0003890_abnormal_embryonic-extraembry0.69146630
108MP0000534_abnormal_ureter_morphology0.68440444
109MP0001963_abnormal_hearing_physiology0.68086550
110MP0003878_abnormal_ear_physiology0.65660947
111MP0005377_hearing/vestibular/ear_phenot0.65660947
112MP0010769_abnormal_survival0.65095847
113MP0003123_paternal_imprinting0.65094656
114MP0001485_abnormal_pinna_reflex0.64699552
115MP0001905_abnormal_dopamine_level0.62508575
116MP0001943_abnormal_respiration0.61353694
117MP0010768_mortality/aging0.60790980
118MP0010770_preweaning_lethality0.60048815
119MP0002082_postnatal_lethality0.60048815
120MP0003172_abnormal_lysosome_physiology0.59644367
121MP0006072_abnormal_retinal_apoptosis0.58149922
122MP0000747_muscle_weakness0.56810572
123MP0004215_abnormal_myocardial_fiber0.55754352
124MP0005535_abnormal_body_temperature0.53068523

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)6.45492693
2Focal motor seizures (HP:0011153)5.81010398
3Visual hallucinations (HP:0002367)5.08138458
4Focal seizures (HP:0007359)4.99027520
5Action tremor (HP:0002345)4.68056945
6Progressive cerebellar ataxia (HP:0002073)4.54692611
7Limb dystonia (HP:0002451)3.93400615
8Epileptic encephalopathy (HP:0200134)3.78505079
9Atonic seizures (HP:0010819)3.59503483
10Supranuclear gaze palsy (HP:0000605)3.56490195
11Ankle clonus (HP:0011448)3.52227805
12Genetic anticipation (HP:0003743)3.40350237
13Febrile seizures (HP:0002373)3.39720136
14Dysdiadochokinesis (HP:0002075)3.32576990
15Abnormality of the lower motor neuron (HP:0002366)3.32376197
16Absence seizures (HP:0002121)3.29023524
17Gaze-evoked nystagmus (HP:0000640)3.27550373
18Poor eye contact (HP:0000817)3.25147434
19Depression (HP:0000716)3.16639869
20Generalized tonic-clonic seizures (HP:0002069)3.14359941
21Broad-based gait (HP:0002136)3.11764107
22Impaired vibration sensation in the lower limbs (HP:0002166)3.08998415
23Hemiplegia (HP:0002301)3.06282776
24Urinary bladder sphincter dysfunction (HP:0002839)3.02614003
25Abnormal social behavior (HP:0012433)3.01006744
26Impaired social interactions (HP:0000735)3.01006744
27Septo-optic dysplasia (HP:0100842)2.98570983
28Postural instability (HP:0002172)2.98334125
29Dysmetria (HP:0001310)2.97946694
30Papilledema (HP:0001085)2.95630959
31Annular pancreas (HP:0001734)2.93973617
32Mutism (HP:0002300)2.93781829
33Impaired smooth pursuit (HP:0007772)2.91723960
34Intention tremor (HP:0002080)2.91240174
35Turricephaly (HP:0000262)2.90310366
36Dialeptic seizures (HP:0011146)2.88825927
37Sleep apnea (HP:0010535)2.82914796
38Dysmetric saccades (HP:0000641)2.77653598
39Insomnia (HP:0100785)2.76858544
40Megalencephaly (HP:0001355)2.75172834
41Truncal ataxia (HP:0002078)2.74566886
42Pointed chin (HP:0000307)2.74481367
43Hemiparesis (HP:0001269)2.72348717
44Ventricular fibrillation (HP:0001663)2.69588929
45Abnormal eating behavior (HP:0100738)2.65903346
46Urinary urgency (HP:0000012)2.65514138
47Abnormality of ocular smooth pursuit (HP:0000617)2.64685650
48Anxiety (HP:0000739)2.61595113
49Scanning speech (HP:0002168)2.58207472
50Diplopia (HP:0000651)2.53936711
51Abnormality of binocular vision (HP:0011514)2.53936711
52Split foot (HP:0001839)2.52211783
53Torticollis (HP:0000473)2.52101230
54Partial duplication of thumb phalanx (HP:0009944)2.50639801
55Spastic gait (HP:0002064)2.50490864
56Bronchomalacia (HP:0002780)2.49926955
57Polyphagia (HP:0002591)2.35303538
58Akinesia (HP:0002304)2.31643848
59Stereotypic behavior (HP:0000733)2.30433503
60Bundle branch block (HP:0011710)2.29865598
61Focal dystonia (HP:0004373)2.26782733
62Amblyopia (HP:0000646)2.24509548
63Abnormality of the diencephalon (HP:0010662)2.22612335
64Abnormality of the corticospinal tract (HP:0002492)2.22239358
65Termporal pattern (HP:0011008)2.22188422
66Insidious onset (HP:0003587)2.22188422
67Partial duplication of the phalanx of hand (HP:0009999)2.22011187
68Hyperacusis (HP:0010780)2.20294348
69Bradykinesia (HP:0002067)2.19841257
70Obstructive sleep apnea (HP:0002870)2.19249548
71Amyotrophic lateral sclerosis (HP:0007354)2.17443176
72Excessive salivation (HP:0003781)2.15349131
73Drooling (HP:0002307)2.15349131
74Cerebral hypomyelination (HP:0006808)2.13631376
75Status epilepticus (HP:0002133)2.12048977
76Spastic tetraparesis (HP:0001285)2.11799481
77Cerebral inclusion bodies (HP:0100314)2.11354966
78Neurofibrillary tangles (HP:0002185)2.09681373
79Peripheral hypomyelination (HP:0007182)2.09019198
80Clonus (HP:0002169)2.04657369
81Agitation (HP:0000713)2.04486414
82Lower limb muscle weakness (HP:0007340)2.04389340
83Impaired vibratory sensation (HP:0002495)2.02313986
84Absent septum pellucidum (HP:0001331)2.01829439
85Tetraplegia (HP:0002445)2.00610525
86Optic nerve hypoplasia (HP:0000609)1.98999713
87Craniofacial dystonia (HP:0012179)1.98057069
88Elfin facies (HP:0004428)1.96363157
89Neoplasm of the heart (HP:0100544)1.96167164
90Lower limb asymmetry (HP:0100559)1.93258907
91Overriding aorta (HP:0002623)1.92749809
92Postural tremor (HP:0002174)1.92482465
93Aqueductal stenosis (HP:0002410)1.89311432
94Abnormality of saccadic eye movements (HP:0000570)1.89200507
95Neuronal loss in central nervous system (HP:0002529)1.88620377
96Macroorchidism (HP:0000053)1.87869369
97Broad metatarsal (HP:0001783)1.85745138
98Ankyloglossia (HP:0010296)1.85473430
99Cutaneous finger syndactyly (HP:0010554)1.84943139
100Gait ataxia (HP:0002066)1.82498749
101Apathy (HP:0000741)1.82273107
102Shallow orbits (HP:0000586)1.81714542
103EEG with generalized epileptiform discharges (HP:0011198)1.81529597
104Fetal akinesia sequence (HP:0001989)1.80940103
105Trigonocephaly (HP:0000243)1.80663912
106Hypsarrhythmia (HP:0002521)1.80037523
107Progressive inability to walk (HP:0002505)1.79618401
108Epileptiform EEG discharges (HP:0011182)1.79527141
109Incomplete penetrance (HP:0003829)1.78316802
110Cutaneous syndactyly (HP:0012725)1.77480964
111Resting tremor (HP:0002322)1.76861436
112Absent speech (HP:0001344)1.75973857
113Coronal craniosynostosis (HP:0004440)1.75806799
114Maternal diabetes (HP:0009800)1.72290402
115Lower limb amyotrophy (HP:0007210)1.71741053
116Hepatoblastoma (HP:0002884)1.71706905
117Morphological abnormality of the pyramidal tract (HP:0002062)1.71421064
118Renal duplication (HP:0000075)1.71021208
119Aplasia involving bones of the upper limbs (HP:0009823)1.70993337
120Aplasia of the phalanges of the hand (HP:0009802)1.70993337
121Aplasia involving bones of the extremities (HP:0009825)1.70993337
122Arnold-Chiari malformation (HP:0002308)1.68637178
123Pheochromocytoma (HP:0002666)1.68614429
124Intellectual disability, profound (HP:0002187)1.67751591
125Abnormality of the septum pellucidum (HP:0007375)1.67325185
126Choanal stenosis (HP:0000452)1.66384129
127Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.66025001

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP3K94.03662856
2NTRK33.83196293
3EPHA43.36588751
4MARK13.23922095
5CASK3.10392580
6PAK62.87885464
7PRKD32.73638737
8MAP3K42.72952381
9MINK12.69235733
10DAPK22.56908531
11CAMKK12.46826219
12KSR22.22175901
13NTRK22.19376000
14STK381.88935972
15NTRK11.84762081
16MAP2K71.80050802
17TYRO31.67631278
18DYRK21.66262278
19MAP2K41.66056163
20KSR11.65429457
21RIPK11.65351268
22LATS21.58703309
23CDK51.51577734
24ALK1.43722609
25TAOK11.40683101
26SIK21.36600217
27UHMK11.35170173
28CDK191.35092285
29PRPF4B1.28799833
30CAMKK21.28156859
31PHKG21.20226195
32PHKG11.20226195
33DAPK11.18467712
34PNCK1.12513015
35STK111.12200305
36PRKCG1.11592121
37PRKCH1.10777466
38NEK11.09528513
39PLK21.09523747
40MAP3K21.06306706
41CDK151.05808422
42GRK51.04635683
43CDK181.03182383
44LMTK21.01931306
45RET1.01016564
46RIPK40.99228112
47CDK140.98831752
48MAPK130.97935441
49WNK10.97778033
50CAMK10.96889035
51PKN10.94201155
52CDK11A0.94018077
53PINK10.93522989
54EPHB20.93169272
55CAMK1G0.89819661
56TRIB30.88814283
57SGK2230.84603094
58SGK4940.84603094
59TNIK0.84462885
60SCYL20.83999029
61PAK30.81784515
62SGK30.79809608
63DDR20.78187072
64FES0.78169103
65ICK0.78070482
66MAP3K120.75780754
67CDC42BPA0.74498122
68PDGFRA0.73327931
69MARK20.71205025
70BRSK10.66723569
71MAP3K130.65491206
72CAMK2A0.64803965
73PDK10.63993936
74ARAF0.63218782
75DYRK1A0.62799540
76CSNK1G20.62661067
77SGK10.62506889
78SGK20.62061539
79CAMK40.58351108
80RPS6KA30.58145589
81LIMK10.58074324
82PDPK10.57778759
83MAP3K100.56827636
84BMX0.56256103
85MAPK100.55644921
86RAF10.54542092
87DMPK0.52922252
88PRKCZ0.52249102
89CAMK1D0.51431374
90MAP3K70.48852249
91FYN0.48135935
92NEK60.48093272
93MAPK120.46686305
94FGFR20.46525768
95CAMK2B0.45926219
96OXSR10.45328093
97BRAF0.44680762
98DAPK30.42290655
99TNK20.41948574
100ROCK20.41276390
101MAP3K10.40183731
102MAPK150.40003381
103PKN20.39685797
104PTK2B0.38602976
105ERBB20.38467405
106CAMK2D0.38440982
107CAMK2G0.36591719
108DYRK1B0.35847051
109MAPK80.35402763
110RPS6KA20.35181541
111CSNK1D0.34770747
112FER0.34192822
113CSNK1E0.34054200
114MKNK20.33663127
115ROCK10.33638945
116GSK3B0.32640263
117PTK20.32419041
118PRKDC0.31720283
119MKNK10.29649012
120PRKG10.28131342
121PRKCE0.25574919
122MAPKAPK50.24205628
123FGFR10.23714943

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.23350794
2Synaptic vesicle cycle_Homo sapiens_hsa047213.09590874
3GABAergic synapse_Homo sapiens_hsa047272.57180980
4Circadian entrainment_Homo sapiens_hsa047132.55106609
5Olfactory transduction_Homo sapiens_hsa047402.54868595
6Glutamatergic synapse_Homo sapiens_hsa047242.54521541
7Long-term potentiation_Homo sapiens_hsa047202.52514325
8Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.38205342
9Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.35161279
10Morphine addiction_Homo sapiens_hsa050322.24838729
11Amphetamine addiction_Homo sapiens_hsa050312.16895071
12Nitrogen metabolism_Homo sapiens_hsa009102.16335123
13Salivary secretion_Homo sapiens_hsa049702.05816304
14Dopaminergic synapse_Homo sapiens_hsa047282.00596178
15Gastric acid secretion_Homo sapiens_hsa049711.92537855
16Insulin secretion_Homo sapiens_hsa049111.88980306
17Aldosterone synthesis and secretion_Homo sapiens_hsa049251.85469930
18Cholinergic synapse_Homo sapiens_hsa047251.83669866
19Long-term depression_Homo sapiens_hsa047301.71571960
20* Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.70169467
21* Oxytocin signaling pathway_Homo sapiens_hsa049211.54536802
22Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.54101434
23Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.53734596
24Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.50741945
25Cocaine addiction_Homo sapiens_hsa050301.47347269
26GnRH signaling pathway_Homo sapiens_hsa049121.47286633
27Taste transduction_Homo sapiens_hsa047421.46888599
28Renin secretion_Homo sapiens_hsa049241.40827599
29Gap junction_Homo sapiens_hsa045401.38780416
30Type II diabetes mellitus_Homo sapiens_hsa049301.36356842
31Calcium signaling pathway_Homo sapiens_hsa040201.36086448
32Vitamin B6 metabolism_Homo sapiens_hsa007501.32697997
33Glioma_Homo sapiens_hsa052141.31016882
34Estrogen signaling pathway_Homo sapiens_hsa049151.28376822
35cAMP signaling pathway_Homo sapiens_hsa040241.26618712
36Serotonergic synapse_Homo sapiens_hsa047261.24861611
37Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.23108081
38Phosphatidylinositol signaling system_Homo sapiens_hsa040701.19717600
39Axon guidance_Homo sapiens_hsa043601.14230107
40Melanogenesis_Homo sapiens_hsa049161.13014296
41Basal cell carcinoma_Homo sapiens_hsa052171.11191188
42ErbB signaling pathway_Homo sapiens_hsa040121.10444453
43Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.10036616
44Oocyte meiosis_Homo sapiens_hsa041141.04496292
45cGMP-PKG signaling pathway_Homo sapiens_hsa040221.02491074
46Dorso-ventral axis formation_Homo sapiens_hsa043201.01066069
47Phospholipase D signaling pathway_Homo sapiens_hsa040721.00220894
48mTOR signaling pathway_Homo sapiens_hsa041500.87755817
49Thyroid hormone synthesis_Homo sapiens_hsa049180.87017107
50Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.84863856
51Neurotrophin signaling pathway_Homo sapiens_hsa047220.83918068
52Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.83244573
53Pancreatic secretion_Homo sapiens_hsa049720.83195334
54Thyroid hormone signaling pathway_Homo sapiens_hsa049190.82333560
55Vascular smooth muscle contraction_Homo sapiens_hsa042700.82005307
56Carbohydrate digestion and absorption_Homo sapiens_hsa049730.80672894
57Phototransduction_Homo sapiens_hsa047440.77876044
58Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.77497400
59Choline metabolism in cancer_Homo sapiens_hsa052310.77401022
60VEGF signaling pathway_Homo sapiens_hsa043700.76515866
61Endometrial cancer_Homo sapiens_hsa052130.73757100
62* MAPK signaling pathway_Homo sapiens_hsa040100.72026064
63* Dilated cardiomyopathy_Homo sapiens_hsa054140.69307794
64Bile secretion_Homo sapiens_hsa049760.68840156
65Rap1 signaling pathway_Homo sapiens_hsa040150.65315916
66Endocytosis_Homo sapiens_hsa041440.65245249
67Non-small cell lung cancer_Homo sapiens_hsa052230.64853004
68Alzheimers disease_Homo sapiens_hsa050100.64307371
69Longevity regulating pathway - mammal_Homo sapiens_hsa042110.64149064
70Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.62861249
71Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.62020706
72Collecting duct acid secretion_Homo sapiens_hsa049660.61788613
73Notch signaling pathway_Homo sapiens_hsa043300.61493642
74Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.61038136
75Renal cell carcinoma_Homo sapiens_hsa052110.60654995
76Wnt signaling pathway_Homo sapiens_hsa043100.60202934
77Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.60061922
78Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.59836146
79Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.58851356
80Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.58810626
81Glucagon signaling pathway_Homo sapiens_hsa049220.58428561
82Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.58380928
83Sphingolipid signaling pathway_Homo sapiens_hsa040710.58114190
84Ras signaling pathway_Homo sapiens_hsa040140.56018875
85Inositol phosphate metabolism_Homo sapiens_hsa005620.55516557
86* Cardiac muscle contraction_Homo sapiens_hsa042600.54327144
87Hedgehog signaling pathway_Homo sapiens_hsa043400.52452515
88Insulin signaling pathway_Homo sapiens_hsa049100.51856215
89Alcoholism_Homo sapiens_hsa050340.48734571
90Hippo signaling pathway_Homo sapiens_hsa043900.48346076
91Colorectal cancer_Homo sapiens_hsa052100.46962752
92Central carbon metabolism in cancer_Homo sapiens_hsa052300.46909276
93Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.45830571
94Vibrio cholerae infection_Homo sapiens_hsa051100.44452898
95Circadian rhythm_Homo sapiens_hsa047100.44340082
96Tight junction_Homo sapiens_hsa045300.43579791
97Prion diseases_Homo sapiens_hsa050200.43190587
98Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.42402045
99* Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.42262678
100Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.42125754
101Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.41709304
102Proteoglycans in cancer_Homo sapiens_hsa052050.40400874
103Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.39839001
104Parkinsons disease_Homo sapiens_hsa050120.39729062
105Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.38665808
106Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.38482699
107Chemokine signaling pathway_Homo sapiens_hsa040620.36435596
108Adherens junction_Homo sapiens_hsa045200.35115356
109Ovarian steroidogenesis_Homo sapiens_hsa049130.34777565
110Regulation of actin cytoskeleton_Homo sapiens_hsa048100.31905483
111Oxidative phosphorylation_Homo sapiens_hsa001900.30793394
112AMPK signaling pathway_Homo sapiens_hsa041520.28373841
113Protein digestion and absorption_Homo sapiens_hsa049740.28205052
114Arginine and proline metabolism_Homo sapiens_hsa003300.28150611

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