TMEM246

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: No gene information available for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)4.77782988
2pyrimidine nucleobase catabolic process (GO:0006208)4.71953686
3vocalization behavior (GO:0071625)4.59453987
4neuron cell-cell adhesion (GO:0007158)4.59073935
5synaptic vesicle exocytosis (GO:0016079)4.57112512
6synaptic vesicle maturation (GO:0016188)4.38817397
7regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.38530619
8protein localization to synapse (GO:0035418)4.21315530
9positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.20142782
10glutamate secretion (GO:0014047)4.14661923
11neuronal action potential propagation (GO:0019227)4.10219406
12positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.08976423
13regulation of glutamate receptor signaling pathway (GO:1900449)4.07240898
14locomotory exploration behavior (GO:0035641)4.01213240
15regulation of synaptic vesicle exocytosis (GO:2000300)3.98977085
16nucleobase catabolic process (GO:0046113)3.97626240
17membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.79135525
18ionotropic glutamate receptor signaling pathway (GO:0035235)3.77589641
19regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.76229352
20regulation of synapse structural plasticity (GO:0051823)3.75209700
21exploration behavior (GO:0035640)3.74535745
22glutamate receptor signaling pathway (GO:0007215)3.66729968
23positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.62793852
24neuron recognition (GO:0008038)3.59581182
25neurotransmitter secretion (GO:0007269)3.59493074
26synaptic vesicle docking involved in exocytosis (GO:0016081)3.57019568
27regulation of synaptic vesicle transport (GO:1902803)3.56969936
28regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.50455542
29neurotransmitter-gated ion channel clustering (GO:0072578)3.49319268
30neuronal ion channel clustering (GO:0045161)3.48806519
31protein localization to cilium (GO:0061512)3.47112911
32synaptic transmission, glutamatergic (GO:0035249)3.45252687
33proline transport (GO:0015824)3.45086496
34neuron-neuron synaptic transmission (GO:0007270)3.42731214
35mitochondrion transport along microtubule (GO:0047497)3.42125705
36establishment of mitochondrion localization, microtubule-mediated (GO:0034643)3.42125705
37mechanosensory behavior (GO:0007638)3.41609411
38cell communication by electrical coupling (GO:0010644)3.40895454
39cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.38702418
40regulation of neuronal synaptic plasticity (GO:0048168)3.35004715
41regulation of long-term neuronal synaptic plasticity (GO:0048169)3.31102823
42postsynaptic membrane organization (GO:0001941)3.28925854
43dendritic spine morphogenesis (GO:0060997)3.27810786
44cellular potassium ion homeostasis (GO:0030007)3.23933193
45positive regulation of potassium ion transmembrane transport (GO:1901381)3.23913504
46axonal fasciculation (GO:0007413)3.23758101
47behavioral response to nicotine (GO:0035095)3.23398393
48layer formation in cerebral cortex (GO:0021819)3.21196605
49G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.20721948
50negative regulation of synaptic transmission, GABAergic (GO:0032229)3.17389413
51neurotransmitter transport (GO:0006836)3.15014987
52gamma-aminobutyric acid signaling pathway (GO:0007214)3.13072777
53regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.11762137
54activation of protein kinase A activity (GO:0034199)3.09451512
55gamma-aminobutyric acid transport (GO:0015812)3.07369028
56mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.05272344
57transmission of nerve impulse (GO:0019226)3.04513173
58regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.04390431
59short-term memory (GO:0007614)3.03903526
60positive regulation of dendritic spine morphogenesis (GO:0061003)3.02445834
61response to histamine (GO:0034776)3.01436086
62negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.00995681
63neurofilament cytoskeleton organization (GO:0060052)3.00593547
64presynaptic membrane assembly (GO:0097105)3.00268289
65regulation of excitatory postsynaptic membrane potential (GO:0060079)2.99924118
66regulation of synaptic transmission, glutamatergic (GO:0051966)2.97094310
67regulation of membrane repolarization (GO:0060306)2.96581845
68membrane depolarization during action potential (GO:0086010)2.95311304
69sodium ion export (GO:0071436)2.94321145
70behavioral defense response (GO:0002209)2.93122381
71behavioral fear response (GO:0001662)2.93122381
72positive regulation of synaptic transmission, GABAergic (GO:0032230)2.92742298
73regulation of vesicle fusion (GO:0031338)2.92637204
74positive regulation of membrane potential (GO:0045838)2.91752421
75mitochondrial ATP synthesis coupled proton transport (GO:0042776)2.91474923
76peptidyl-tyrosine autophosphorylation (GO:0038083)2.90704972
77neuromuscular process controlling posture (GO:0050884)2.90179443
78regulation of postsynaptic membrane potential (GO:0060078)2.90028502
79innervation (GO:0060384)2.88334060
80positive regulation of dendritic spine development (GO:0060999)2.87978120
81cerebellar Purkinje cell differentiation (GO:0021702)2.87916106
82detection of calcium ion (GO:0005513)2.87551576
83positive regulation of synapse assembly (GO:0051965)2.86677200
84regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO2.86630563
85adult walking behavior (GO:0007628)2.86162285
86long-term memory (GO:0007616)2.85817367
87regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)2.85807800
88presynaptic membrane organization (GO:0097090)2.85480079
89cell migration in hindbrain (GO:0021535)2.85195719
90fear response (GO:0042596)2.84538562
91cerebellar granule cell differentiation (GO:0021707)2.84407967
92long-term synaptic potentiation (GO:0060291)2.84186694
93regulation of neurotransmitter secretion (GO:0046928)2.83105569
94cell communication involved in cardiac conduction (GO:0086065)2.82466666
95regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)2.81719965
96regulation of neurotransmitter levels (GO:0001505)2.81111770
97behavioral response to ethanol (GO:0048149)2.81053658
98positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.80406579
99neuromuscular synaptic transmission (GO:0007274)2.79910136
100synapse assembly (GO:0007416)2.77544576
101response to auditory stimulus (GO:0010996)2.77517520
102membrane hyperpolarization (GO:0060081)2.77279087
103striatum development (GO:0021756)2.77176875
104regulation of synaptic plasticity (GO:0048167)2.77079823
105positive regulation of synapse maturation (GO:0090129)2.76940422
106energy coupled proton transport, down electrochemical gradient (GO:0015985)2.76688946
107ATP synthesis coupled proton transport (GO:0015986)2.76688946
108energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)2.76306819
109ATP hydrolysis coupled proton transport (GO:0015991)2.76306819
110regulation of dendritic spine morphogenesis (GO:0061001)2.74711682
111calcium-mediated signaling using intracellular calcium source (GO:0035584)2.74643593
112glycosphingolipid biosynthetic process (GO:0006688)2.73710659
113synapse organization (GO:0050808)2.73458073
114positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)2.73377781
115regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)2.72591707
116auditory behavior (GO:0031223)2.72460488
117synaptic vesicle endocytosis (GO:0048488)2.71897138
118positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.71622625
119negative regulation of microtubule polymerization (GO:0031115)2.70511717
120membrane depolarization (GO:0051899)2.70066641
121dendrite morphogenesis (GO:0048813)2.69705508
122establishment of mitochondrion localization (GO:0051654)2.68845443
123regulation of neurotransmitter transport (GO:0051588)2.68681733
124regulation of feeding behavior (GO:0060259)2.62869480
125regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.58252205
126startle response (GO:0001964)2.58232592
127regulation of voltage-gated calcium channel activity (GO:1901385)2.55589699
128synaptic transmission (GO:0007268)2.54922901
129negative regulation of dendrite development (GO:2000171)2.53321030

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.98166098
2GBX2_23144817_ChIP-Seq_PC3_Human3.59356748
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.18236463
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.14012127
5JARID2_20064375_ChIP-Seq_MESCs_Mouse3.01150403
6JARID2_20075857_ChIP-Seq_MESCs_Mouse2.72709688
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.66465746
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.66465746
9SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.63993242
10EZH2_27304074_Chip-Seq_ESCs_Mouse2.62304675
11SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.62245383
12SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.59826829
13HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.50933760
14MTF2_20144788_ChIP-Seq_MESCs_Mouse2.50572135
15EED_16625203_ChIP-ChIP_MESCs_Mouse2.49594836
16SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.49198688
17REST_21632747_ChIP-Seq_MESCs_Mouse2.48218190
18EZH2_27294783_Chip-Seq_ESCs_Mouse2.32371179
19SUZ12_27294783_Chip-Seq_ESCs_Mouse2.31170048
20RNF2_27304074_Chip-Seq_ESCs_Mouse2.12320281
21GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.10946706
22DROSHA_22980978_ChIP-Seq_HELA_Human2.08776969
23REST_18959480_ChIP-ChIP_MESCs_Mouse2.05450049
24NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.99917374
25RARB_27405468_Chip-Seq_BRAIN_Mouse1.93136008
26CTBP1_25329375_ChIP-Seq_LNCAP_Human1.89854697
27CTBP2_25329375_ChIP-Seq_LNCAP_Human1.88417788
28AR_21572438_ChIP-Seq_LNCaP_Human1.88115570
29TAF15_26573619_Chip-Seq_HEK293_Human1.84577729
30RBPJ_22232070_ChIP-Seq_NCS_Mouse1.80034594
31CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.76269006
32IKZF1_21737484_ChIP-ChIP_HCT116_Human1.69376588
33ZFP57_27257070_Chip-Seq_ESCs_Mouse1.66298137
34CBX2_27304074_Chip-Seq_ESCs_Mouse1.63575877
35GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.62924234
36BMI1_23680149_ChIP-Seq_NPCS_Mouse1.62400667
37MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.62319134
38SMAD4_21799915_ChIP-Seq_A2780_Human1.60383565
39ZNF274_21170338_ChIP-Seq_K562_Hela1.57684291
40PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.57281416
41ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.54075307
42P300_19829295_ChIP-Seq_ESCs_Human1.53605140
43TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.44063570
44PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.43102321
45IGF1R_20145208_ChIP-Seq_DFB_Human1.41294327
46RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.36203158
47RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.35800415
48CDX2_19796622_ChIP-Seq_MESCs_Mouse1.35752549
49SMAD3_21741376_ChIP-Seq_EPCs_Human1.34539795
50AR_25329375_ChIP-Seq_VCAP_Human1.33493374
51SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.32730308
52RING1B_27294783_Chip-Seq_ESCs_Mouse1.32717808
53TOP2B_26459242_ChIP-Seq_MCF-7_Human1.32334650
54OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.32218265
55SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.32106425
56SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.31950362
57MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.30163108
58ERG_21242973_ChIP-ChIP_JURKAT_Human1.29227080
59NR3C1_23031785_ChIP-Seq_PC12_Mouse1.26893569
60PIAS1_25552417_ChIP-Seq_VCAP_Human1.25898792
61SOX2_21211035_ChIP-Seq_LN229_Gbm1.21414746
62ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.16856062
63RNF2_27304074_Chip-Seq_NSC_Mouse1.15524871
64TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.14639725
65POU3F2_20337985_ChIP-ChIP_501MEL_Human1.13932298
66EWS_26573619_Chip-Seq_HEK293_Human1.13156024
67EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.12266957
68VDR_22108803_ChIP-Seq_LS180_Human1.11018253
69FUS_26573619_Chip-Seq_HEK293_Human1.06538748
70UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.05361630
71GATA1_26923725_Chip-Seq_HPCs_Mouse1.05293140
72DNAJC2_21179169_ChIP-ChIP_NT2_Human1.03886028
73AR_19668381_ChIP-Seq_PC3_Human1.03434336
74MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.03365702
75P53_22127205_ChIP-Seq_FIBROBLAST_Human1.03005315
76EP300_21415370_ChIP-Seq_HL-1_Mouse1.02926949
77KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.02479762
78STAT3_23295773_ChIP-Seq_U87_Human1.02449974
79TAL1_26923725_Chip-Seq_HPCs_Mouse1.02277044
80E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.01822270
81ARNT_22903824_ChIP-Seq_MCF-7_Human0.99908913
82RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.99142955
83MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.99036568
84NANOG_18555785_Chip-Seq_ESCs_Mouse0.98764612
85ER_23166858_ChIP-Seq_MCF-7_Human0.98617123
86TCF4_23295773_ChIP-Seq_U87_Human0.97938101
87LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.97674343
88TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.97382753
89PRDM14_20953172_ChIP-Seq_ESCs_Human0.97057651
90WT1_25993318_ChIP-Seq_PODOCYTE_Human0.96482590
91RUNX2_22187159_ChIP-Seq_PCA_Human0.95122371
92RING1B_27294783_Chip-Seq_NPCs_Mouse0.95117415
93AHR_22903824_ChIP-Seq_MCF-7_Human0.94871103
94NR3C1_21868756_ChIP-Seq_MCF10A_Human0.94651467
95CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.93791407
96POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.92904065
97TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.92904065
98TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.92395349
99JUN_21703547_ChIP-Seq_K562_Human0.91670472
100PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.88493771
101SALL1_21062744_ChIP-ChIP_HESCs_Human0.88317973
102SMAD3_21741376_ChIP-Seq_ESCs_Human0.88194034
103SOX9_26525672_Chip-Seq_HEART_Mouse0.87622195
104OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.87528468
105STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.87526990
106TP53_20018659_ChIP-ChIP_R1E_Mouse0.87354488
107CTCF_27219007_Chip-Seq_Bcells_Human0.86705662
108AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.86299328
109KLF5_20875108_ChIP-Seq_MESCs_Mouse0.86126844
110BCAT_22108803_ChIP-Seq_LS180_Human0.86029777
111SMAD4_21741376_ChIP-Seq_HESCs_Human0.85917147
112POU5F1_16153702_ChIP-ChIP_HESCs_Human0.85780036
113YAP1_20516196_ChIP-Seq_MESCs_Mouse0.84563844
114CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.83000932
115TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.82676096
116CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.82314918
117TP53_18474530_ChIP-ChIP_U2OS_Human0.79894709
118FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.79349472

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity4.86663094
2MP0003880_abnormal_central_pattern4.23505940
3MP0003635_abnormal_synaptic_transmissio3.52372708
4MP0004270_analgesia3.25008196
5MP0009745_abnormal_behavioral_response2.96824067
6MP0001968_abnormal_touch/_nociception2.96115887
7MP0002064_seizures2.78406897
8MP0002063_abnormal_learning/memory/cond2.78069186
9MP0002736_abnormal_nociception_after2.64042392
10MP0009046_muscle_twitch2.59425812
11MP0002735_abnormal_chemical_nociception2.56285130
12MP0002572_abnormal_emotion/affect_behav2.50595882
13MP0002734_abnormal_mechanical_nocicepti2.49851297
14MP0002272_abnormal_nervous_system2.43577105
15MP0005423_abnormal_somatic_nervous2.37680112
16MP0001486_abnormal_startle_reflex2.30665255
17MP0002822_catalepsy2.24292212
18MP0006276_abnormal_autonomic_nervous2.23399300
19MP0001440_abnormal_grooming_behavior2.22502845
20MP0000751_myopathy2.18352166
21MP0002837_dystrophic_cardiac_calcinosis2.09742436
22MP0002733_abnormal_thermal_nociception2.05566107
23MP0001529_abnormal_vocalization2.02456929
24MP0001501_abnormal_sleep_pattern1.99118943
25MP0004858_abnormal_nervous_system1.94951285
26MP0002067_abnormal_sensory_capabilities1.93388490
27MP0001970_abnormal_pain_threshold1.87390472
28MP0002184_abnormal_innervation1.83351558
29MP0004215_abnormal_myocardial_fiber1.75333055
30MP0000778_abnormal_nervous_system1.73565178
31MP0003329_amyloid_beta_deposits1.72553101
32MP0003121_genomic_imprinting1.68635582
33MP0002557_abnormal_social/conspecific_i1.68148523
34MP0005386_behavior/neurological_phenoty1.66859299
35MP0004924_abnormal_behavior1.66859299
36MP0003122_maternal_imprinting1.66447387
37MP0004142_abnormal_muscle_tone1.60457274
38MP0001905_abnormal_dopamine_level1.60349276
39MP0008569_lethality_at_weaning1.57791071
40MP0009780_abnormal_chondrocyte_physiolo1.57783404
41MP0003646_muscle_fatigue1.51214284
42MP0005187_abnormal_penis_morphology1.50651448
43MP0005646_abnormal_pituitary_gland1.49261852
44MP0001984_abnormal_olfaction1.48408978
45MP0005084_abnormal_gallbladder_morpholo1.45244156
46MP0003879_abnormal_hair_cell1.41836012
47MP0001502_abnormal_circadian_rhythm1.38979991
48MP0004811_abnormal_neuron_physiology1.38650641
49MP0000955_abnormal_spinal_cord1.38519338
50MP0005645_abnormal_hypothalamus_physiol1.37393207
51MP0003011_delayed_dark_adaptation1.37143069
52MP0004885_abnormal_endolymph1.34670917
53MP0003283_abnormal_digestive_organ1.32891911
54MP0002882_abnormal_neuron_morphology1.32724492
55MP0004036_abnormal_muscle_relaxation1.32674911
56MP0004145_abnormal_muscle_electrophysio1.32132999
57MP0003137_abnormal_impulse_conducting1.31565049
58MP0002909_abnormal_adrenal_gland1.30417369
59MP0002066_abnormal_motor_capabilities/c1.30267809
60MP0000566_synostosis1.29800656
61MP0004085_abnormal_heartbeat1.29292901
62MP0002102_abnormal_ear_morphology1.25384550
63MP0004133_heterotaxia1.23915253
64MP0004084_abnormal_cardiac_muscle1.17963648
65MP0000749_muscle_degeneration1.15369263
66MP0008877_abnormal_DNA_methylation1.14361707
67MP0003633_abnormal_nervous_system1.09649904
68MP0004484_altered_response_of1.04882945
69MP0002928_abnormal_bile_duct1.04372007
70MP0001664_abnormal_digestion1.03511063
71MP0006292_abnormal_olfactory_placode1.02352944
72MP0005551_abnormal_eye_electrophysiolog1.02282016
73MP0001485_abnormal_pinna_reflex1.02110766
74MP0002229_neurodegeneration1.00565928
75MP0001188_hyperpigmentation0.97666642
76MP0003123_paternal_imprinting0.95972643
77MP0000013_abnormal_adipose_tissue0.95139403
78MP0005253_abnormal_eye_physiology0.94089954
79MP0002152_abnormal_brain_morphology0.93571312
80MP0003631_nervous_system_phenotype0.93337387
81MP0001963_abnormal_hearing_physiology0.92933268
82MP0004742_abnormal_vestibular_system0.91952803
83MP0005620_abnormal_muscle_contractility0.91627614
84MP0002972_abnormal_cardiac_muscle0.88801055
85MP0003634_abnormal_glial_cell0.88565079
86MP0002638_abnormal_pupillary_reflex0.88502544
87MP0002752_abnormal_somatic_nervous0.88190392
88MP0002653_abnormal_ependyma_morphology0.87991305
89MP0002876_abnormal_thyroid_physiology0.85986525
90MP0003787_abnormal_imprinting0.85678019
91MP0004233_abnormal_muscle_weight0.85192310
92MP0004043_abnormal_pH_regulation0.84859191
93MP0000631_abnormal_neuroendocrine_gland0.82649117
94MP0005083_abnormal_biliary_tract0.82037583
95MP0001299_abnormal_eye_distance/0.80442712
96MP0002160_abnormal_reproductive_system0.77823341
97MP0008789_abnormal_olfactory_epithelium0.77475446
98MP0003861_abnormal_nervous_system0.77356098
99MP0002069_abnormal_eating/drinking_beha0.76233636
100MP0005535_abnormal_body_temperature0.74793370
101MP0003690_abnormal_glial_cell0.73319890
102MP0005409_darkened_coat_color0.72595219
103MP0000747_muscle_weakness0.72005459
104MP0010386_abnormal_urinary_bladder0.71726568
105MP0006072_abnormal_retinal_apoptosis0.70212130
106MP0008872_abnormal_physiological_respon0.70041566
107MP0005330_cardiomyopathy0.69144928
108MP0003119_abnormal_digestive_system0.68533329
109MP0000026_abnormal_inner_ear0.68475562
110MP0005623_abnormal_meninges_morphology0.67678336
111MP0006035_abnormal_mitochondrial_morpho0.67536347
112MP0001177_atelectasis0.66047074
113MP0002234_abnormal_pharynx_morphology0.65259297
114MP0000579_abnormal_nail_morphology0.64886435
115MP0002106_abnormal_muscle_physiology0.64230573
116MP0000920_abnormal_myelination0.64116993
117MP0002751_abnormal_autonomic_nervous0.62824563
118MP0005595_abnormal_vascular_smooth0.62653230
119MP0005195_abnormal_posterior_eye0.61083480
120MP0004130_abnormal_muscle_cell0.61062609
121MP0006138_congestive_heart_failure0.61003490
122MP0003632_abnormal_nervous_system0.60441964
123MP0005394_taste/olfaction_phenotype0.58943773
124MP0005499_abnormal_olfactory_system0.58943773
125MP0008775_abnormal_heart_ventricle0.58921466
126MP0001986_abnormal_taste_sensitivity0.55809951
127MP0010770_preweaning_lethality0.55699731

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)6.29771929
2Myokymia (HP:0002411)5.44608207
3Focal seizures (HP:0007359)4.48897053
4Visual hallucinations (HP:0002367)4.28836201
5Epileptic encephalopathy (HP:0200134)4.02966695
6Atonic seizures (HP:0010819)4.01417554
7Febrile seizures (HP:0002373)3.77028321
8Pheochromocytoma (HP:0002666)3.59475700
9Absence seizures (HP:0002121)3.51467687
10Progressive cerebellar ataxia (HP:0002073)3.38224041
11Acute necrotizing encephalopathy (HP:0006965)3.32107108
12Neuroendocrine neoplasm (HP:0100634)3.28860999
13Amyotrophic lateral sclerosis (HP:0007354)3.22758234
14Generalized tonic-clonic seizures (HP:0002069)3.20475188
15Abnormal mitochondria in muscle tissue (HP:0008316)3.17197751
16Dialeptic seizures (HP:0011146)3.15166286
17Supranuclear gaze palsy (HP:0000605)3.03824133
18Mitochondrial inheritance (HP:0001427)2.91660998
19Ankle clonus (HP:0011448)2.87838910
20Anxiety (HP:0000739)2.86981253
21Action tremor (HP:0002345)2.86290602
22Progressive macrocephaly (HP:0004481)2.86239916
23Ventricular fibrillation (HP:0001663)2.84282811
24Exercise-induced myalgia (HP:0003738)2.76268537
25Sudden death (HP:0001699)2.75366307
26Muscle hypertrophy of the lower extremities (HP:0008968)2.73887363
27Calf muscle hypertrophy (HP:0008981)2.72349999
28Hyperventilation (HP:0002883)2.69346537
29Polyphagia (HP:0002591)2.68190808
30Abnormal eating behavior (HP:0100738)2.67053245
31Broad-based gait (HP:0002136)2.66789562
32Prolonged QT interval (HP:0001657)2.64273447
33Hypsarrhythmia (HP:0002521)2.58967556
34Limb dystonia (HP:0002451)2.58410218
35Depression (HP:0000716)2.58049194
36Neurofibrillary tangles (HP:0002185)2.56247205
37Abnormality of the lower motor neuron (HP:0002366)2.55424466
38Acute encephalopathy (HP:0006846)2.55138537
39Impaired vibration sensation in the lower limbs (HP:0002166)2.54990280
40Dysdiadochokinesis (HP:0002075)2.50372735
41Poor suck (HP:0002033)2.48267055
42Mutism (HP:0002300)2.46453249
43Progressive inability to walk (HP:0002505)2.43337193
44Abnormal EKG (HP:0003115)2.43144424
45Medial flaring of the eyebrow (HP:0010747)2.42173753
46Increased CSF lactate (HP:0002490)2.41153440
47Hepatocellular necrosis (HP:0001404)2.41128139
48Amblyopia (HP:0000646)2.39948748
49Truncal ataxia (HP:0002078)2.39186323
50Postural instability (HP:0002172)2.39033613
51Syncope (HP:0001279)2.38834773
52Poor eye contact (HP:0000817)2.38458338
53Cerebral inclusion bodies (HP:0100314)2.38294386
54Abnormality of the labia minora (HP:0012880)2.38138118
55Congenital primary aphakia (HP:0007707)2.33976117
56Sleep apnea (HP:0010535)2.30261078
57Hemiparesis (HP:0001269)2.30251147
58Dysmetria (HP:0001310)2.29250684
59Akinesia (HP:0002304)2.25721582
60Morphological abnormality of the pyramidal tract (HP:0002062)2.22177167
61Abnormality of the calf musculature (HP:0001430)2.18973534
62Myotonia (HP:0002486)2.17501381
63Urinary bladder sphincter dysfunction (HP:0002839)2.16922332
64Atrophy/Degeneration involving motor neurons (HP:0007373)2.16262317
65Spastic tetraplegia (HP:0002510)2.16120512
66Abnormality of the corticospinal tract (HP:0002492)2.16060211
67Nephrogenic diabetes insipidus (HP:0009806)2.15755581
68Urinary urgency (HP:0000012)2.15034563
69Termporal pattern (HP:0011008)2.14982780
70Insidious onset (HP:0003587)2.14982780
71Genital tract atresia (HP:0001827)2.13763659
72Impaired social interactions (HP:0000735)2.12507182
73Abnormal social behavior (HP:0012433)2.12507182
74Specific learning disability (HP:0001328)2.12336889
75Retinal dysplasia (HP:0007973)2.11565501
76Vaginal atresia (HP:0000148)2.11485245
77Scanning speech (HP:0002168)2.10602221
78Aplasia/Hypoplasia of the brainstem (HP:0007362)2.10406568
79Hypoplasia of the brainstem (HP:0002365)2.10406568
80Primary atrial arrhythmia (HP:0001692)2.10376135
81Hyperinsulinemic hypoglycemia (HP:0000825)2.09945500
82Intention tremor (HP:0002080)2.09299867
83Atrial fibrillation (HP:0005110)2.08842290
84Cerebral hemorrhage (HP:0001342)2.07963807
85Spastic gait (HP:0002064)2.06314119
86Bradykinesia (HP:0002067)2.05607672
87Gaze-evoked nystagmus (HP:0000640)2.05356141
88Nephronophthisis (HP:0000090)2.04761785
89Neoplasm of the peripheral nervous system (HP:0100007)2.00444793
90Supraventricular tachycardia (HP:0004755)1.99648651
91Hypoglycemic seizures (HP:0002173)1.98748860
92Cerebral hypomyelination (HP:0006808)1.98494421
93Inability to walk (HP:0002540)1.98134416
94Abnormality of binocular vision (HP:0011514)1.97998338
95Diplopia (HP:0000651)1.97998338
96Muscular hypotonia of the trunk (HP:0008936)1.97587601
97Epileptiform EEG discharges (HP:0011182)1.96804048
98Athetosis (HP:0002305)1.94730516
99Lower limb muscle weakness (HP:0007340)1.94361207
100Hypoventilation (HP:0002791)1.93753127
101Focal dystonia (HP:0004373)1.93406247
102Rapidly progressive (HP:0003678)1.93088244
103Status epilepticus (HP:0002133)1.92571501
104Fetal akinesia sequence (HP:0001989)1.92368844
105Drooling (HP:0002307)1.92150982
106Excessive salivation (HP:0003781)1.92150982
107Supraventricular arrhythmia (HP:0005115)1.91932192
108Lissencephaly (HP:0001339)1.91016910
109Abnormality of midbrain morphology (HP:0002418)1.89628140
110Molar tooth sign on MRI (HP:0002419)1.89628140
111Type II lissencephaly (HP:0007260)1.88783526
112Pancreatic fibrosis (HP:0100732)1.88758355
113Increased hepatocellular lipid droplets (HP:0006565)1.88728298
114Torticollis (HP:0000473)1.87957963
115EEG with generalized epileptiform discharges (HP:0011198)1.87597830
116Abnormality of the vocal cords (HP:0008777)1.86803506
117Failure to thrive in infancy (HP:0001531)1.86476922
118Bundle branch block (HP:0011710)1.86052512
119Gait imbalance (HP:0002141)1.86039534
120Hepatic necrosis (HP:0002605)1.85400003
121Incomplete penetrance (HP:0003829)1.82729843
122Optic disc pallor (HP:0000543)1.82649632
123Hypoglycemic coma (HP:0001325)1.81793772
124Abnormal hair whorl (HP:0010721)1.81514952
125Pachygyria (HP:0001302)1.81443136
126Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.81277172
127Degeneration of the lateral corticospinal tracts (HP:0002314)1.81277172
128Increased serum pyruvate (HP:0003542)1.80980524
129Abnormality of glycolysis (HP:0004366)1.80980524
130Left ventricular hypertrophy (HP:0001712)1.77120916
131Labial hypoplasia (HP:0000066)1.74766435
132True hermaphroditism (HP:0010459)1.73052086
133Pancreatic cysts (HP:0001737)1.72084519
134Dyskinesia (HP:0100660)1.71909410
135Abnormality of the renal medulla (HP:0100957)1.70334695
136Cutaneous finger syndactyly (HP:0010554)1.68023029
137Craniofacial dystonia (HP:0012179)1.67317018
138Hypothermia (HP:0002045)1.62896726
139Synostosis involving the elbow (HP:0003938)1.61510570
140Humeroradial synostosis (HP:0003041)1.61510570
141CNS hypomyelination (HP:0003429)1.59529169
142Split foot (HP:0001839)1.59456733
143Hypoplasia of the corpus callosum (HP:0002079)1.58430204
144Anosmia (HP:0000458)1.57549023
145Abnormality of salivation (HP:0100755)1.57463791

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK33.72039258
2MARK13.39765848
3CASK2.91938977
4MAP3K92.83722630
5MAP3K42.79136207
6MUSK2.68275464
7EPHA42.62065571
8MINK12.59599178
9MAP2K72.58559823
10MAP3K122.48246906
11NTRK22.31506682
12PHKG22.20115496
13PHKG12.20115496
14MAPK131.90536470
15ARAF1.85545083
16LMTK21.79794827
17DAPK21.75494587
18MAP2K41.66889407
19GRK51.61147285
20TNIK1.57546809
21CDK191.55105801
22NTRK11.53669248
23NME11.48460708
24KSR21.47792589
25PRKD31.39669548
26PAK61.38707415
27PLK21.37974697
28CDK51.31164683
29PNCK1.26344918
30UHMK11.23289433
31CAMK2A1.17898319
32CSNK1G31.17015810
33GRK71.16818396
34OXSR11.14125199
35KSR11.13711153
36FRK1.12836848
37TRIM281.10850383
38PINK11.10591982
39ERBB31.08881696
40MYLK1.07810565
41DAPK11.05040941
42PRKCG1.03804658
43CSNK1A1L1.03043474
44MAP4K21.02509850
45CSNK1G11.01542615
46PDK41.00390793
47PDK31.00390793
48PAK30.99809951
49CAMK2B0.99395176
50RIPK40.93950043
51PRPF4B0.89595400
52CAMK2D0.88908416
53CAMKK10.88872954
54STK390.87205854
55CAMK10.86688613
56BCKDK0.81431813
57MAPKAPK50.81324798
58PTK2B0.81276728
59SGK2230.80336948
60SGK4940.80336948
61CAMKK20.79848359
62TIE10.79317289
63STK160.78105299
64WNK40.78040623
65LATS20.77228183
66PRKCE0.77063155
67FER0.75512083
68FES0.75039021
69TESK10.74957848
70CDK140.74582330
71LIMK10.73988813
72CDK180.73941283
73WNK30.73659126
74BMPR1B0.73208866
75CSNK1G20.73032836
76MAPK120.71516355
77CDK150.70108730
78OBSCN0.70054888
79CAMK2G0.69989045
80STK380.69483466
81DYRK30.69409958
82MAP3K20.69004603
83ADRBK20.66983904
84EPHB20.66017492
85GRK10.65938788
86CDK11A0.65720008
87DYRK1B0.64821028
88RPS6KA20.62988422
89ROCK20.61881615
90SIK20.61386304
91BCR0.61122780
92TGFBR10.60527437
93RET0.59158611
94DYRK1A0.59093393
95DYRK20.58675816
96PKN10.57920399
97MAP3K130.57730644
98MAP2K10.57578748
99FGFR20.56198917
100BMPR20.55939470
101PRKAA10.55927394
102PRKCH0.55301975
103RAF10.54323695
104ADRBK10.53847025
105PRKG10.52660043
106DAPK30.51808317
107FGR0.51304533
108CAMK40.51018677
109PRKG20.49922572
110BRAF0.49485025
111MARK20.47940273
112INSRR0.47765017
113STK110.47589105
114PRKACA0.47010876
115CSNK1E0.46797776
116CDC42BPA0.46299445
117PRKCZ0.46225131
118SIK30.43066826
119CSNK1A10.42576191
120RPS6KA30.42544275
121PRKCA0.42270329
122ROCK10.42239728
123PRKACB0.41590182
124MAP3K10.40831977
125PRKDC0.40343382
126SGK20.40042766
127TYRO30.39982115
128CSNK1D0.39115257
129STK38L0.37441901
130TSSK60.36963845
131EPHA30.35854917
132SGK10.31229872

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.61937461
2Synaptic vesicle cycle_Homo sapiens_hsa047213.10710546
3Oxidative phosphorylation_Homo sapiens_hsa001902.58905808
4GABAergic synapse_Homo sapiens_hsa047272.57237194
5Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.55433968
6Circadian entrainment_Homo sapiens_hsa047132.45632315
7Cardiac muscle contraction_Homo sapiens_hsa042602.32008936
8Morphine addiction_Homo sapiens_hsa050322.30019386
9Glutamatergic synapse_Homo sapiens_hsa047242.29254475
10Olfactory transduction_Homo sapiens_hsa047402.29234517
11Parkinsons disease_Homo sapiens_hsa050122.24053735
12Collecting duct acid secretion_Homo sapiens_hsa049662.08524866
13Long-term potentiation_Homo sapiens_hsa047201.99181564
14Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.98275216
15Amphetamine addiction_Homo sapiens_hsa050311.97341587
16Alzheimers disease_Homo sapiens_hsa050101.94751262
17Salivary secretion_Homo sapiens_hsa049701.94692506
18Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.89686672
19Insulin secretion_Homo sapiens_hsa049111.87153092
20Dopaminergic synapse_Homo sapiens_hsa047281.86556044
21Taste transduction_Homo sapiens_hsa047421.84079497
22Gastric acid secretion_Homo sapiens_hsa049711.80587918
23Serotonergic synapse_Homo sapiens_hsa047261.75157283
24Cholinergic synapse_Homo sapiens_hsa047251.64776722
25Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.64225329
26Calcium signaling pathway_Homo sapiens_hsa040201.56912185
27Renin secretion_Homo sapiens_hsa049241.56179130
28Long-term depression_Homo sapiens_hsa047301.50415477
29Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.47494264
30Huntingtons disease_Homo sapiens_hsa050161.46850780
31Cocaine addiction_Homo sapiens_hsa050301.44658326
32Oxytocin signaling pathway_Homo sapiens_hsa049211.44159526
33Vibrio cholerae infection_Homo sapiens_hsa051101.42056574
34Aldosterone synthesis and secretion_Homo sapiens_hsa049251.38550679
35Maturity onset diabetes of the young_Homo sapiens_hsa049501.36163668
36Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.33047812
37Gap junction_Homo sapiens_hsa045401.28138270
38Dilated cardiomyopathy_Homo sapiens_hsa054141.21000168
39Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.17529026
40Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.14942268
41GnRH signaling pathway_Homo sapiens_hsa049121.14036386
42Axon guidance_Homo sapiens_hsa043601.07709444
43Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.07119726
44cAMP signaling pathway_Homo sapiens_hsa040241.04717509
45Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.01401283
46Regulation of autophagy_Homo sapiens_hsa041401.00442084
47Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.97397150
48Vitamin B6 metabolism_Homo sapiens_hsa007500.95139247
49cGMP-PKG signaling pathway_Homo sapiens_hsa040220.94071871
50Vascular smooth muscle contraction_Homo sapiens_hsa042700.93657660
51Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.92781181
52Melanogenesis_Homo sapiens_hsa049160.91150514
53Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.88933924
54Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.87418401
55Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.84844430
56Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.82938549
57Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.80924017
58Estrogen signaling pathway_Homo sapiens_hsa049150.79331037
59Pancreatic secretion_Homo sapiens_hsa049720.76821477
60Protein export_Homo sapiens_hsa030600.72616178
61Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.71487526
62Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.71324743
63Butanoate metabolism_Homo sapiens_hsa006500.70382562
64Phototransduction_Homo sapiens_hsa047440.69604794
65Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.67102588
66Arginine and proline metabolism_Homo sapiens_hsa003300.65888904
67ErbB signaling pathway_Homo sapiens_hsa040120.64479322
68Phosphatidylinositol signaling system_Homo sapiens_hsa040700.63928850
69Type II diabetes mellitus_Homo sapiens_hsa049300.63299768
70Hedgehog signaling pathway_Homo sapiens_hsa043400.62201325
71Nitrogen metabolism_Homo sapiens_hsa009100.61336911
72Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.60916463
73Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.59432168
74beta-Alanine metabolism_Homo sapiens_hsa004100.58245516
75Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.57741226
76Dorso-ventral axis formation_Homo sapiens_hsa043200.57467303
77Thyroid hormone synthesis_Homo sapiens_hsa049180.57414309
78Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.55807666
79Oocyte meiosis_Homo sapiens_hsa041140.54516985
80Glucagon signaling pathway_Homo sapiens_hsa049220.53778059
81Glioma_Homo sapiens_hsa052140.52709298
82Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.51606645
83Phospholipase D signaling pathway_Homo sapiens_hsa040720.50174595
84Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.49635483
85Circadian rhythm_Homo sapiens_hsa047100.49006391
86Ras signaling pathway_Homo sapiens_hsa040140.48843312
87Fatty acid elongation_Homo sapiens_hsa000620.48806502
88Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.48740912
89Pyruvate metabolism_Homo sapiens_hsa006200.48446754
90Steroid biosynthesis_Homo sapiens_hsa001000.47930346
91MAPK signaling pathway_Homo sapiens_hsa040100.47025975
92Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.46325610
93Linoleic acid metabolism_Homo sapiens_hsa005910.44424222
94Hippo signaling pathway_Homo sapiens_hsa043900.42480941
952-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.41898284
96Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.40923943
97Fatty acid metabolism_Homo sapiens_hsa012120.40377932
98Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.39366738
99Alcoholism_Homo sapiens_hsa050340.39220852
100Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.38673706
101SNARE interactions in vesicular transport_Homo sapiens_hsa041300.37877067
102Selenocompound metabolism_Homo sapiens_hsa004500.37875583
103Bile secretion_Homo sapiens_hsa049760.37579474
104Wnt signaling pathway_Homo sapiens_hsa043100.35846055
105Primary bile acid biosynthesis_Homo sapiens_hsa001200.35703937
106Fatty acid biosynthesis_Homo sapiens_hsa000610.35521091
107Choline metabolism in cancer_Homo sapiens_hsa052310.35117532
108Rap1 signaling pathway_Homo sapiens_hsa040150.34272371
109alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.33303865
110Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.33265122
111Tryptophan metabolism_Homo sapiens_hsa003800.32894137
112Inositol phosphate metabolism_Homo sapiens_hsa005620.32391149
113Ovarian steroidogenesis_Homo sapiens_hsa049130.32271253
114Ether lipid metabolism_Homo sapiens_hsa005650.32242415
115Peroxisome_Homo sapiens_hsa041460.31909831
116Sphingolipid signaling pathway_Homo sapiens_hsa040710.31532378
117Insulin signaling pathway_Homo sapiens_hsa049100.30315102
118Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.29898567
119Mineral absorption_Homo sapiens_hsa049780.29801738
120Rheumatoid arthritis_Homo sapiens_hsa053230.29613443
121Propanoate metabolism_Homo sapiens_hsa006400.27907044
122Carbohydrate digestion and absorption_Homo sapiens_hsa049730.27779079
123VEGF signaling pathway_Homo sapiens_hsa043700.27247013
124Thyroid hormone signaling pathway_Homo sapiens_hsa049190.26480868
125Tight junction_Homo sapiens_hsa045300.25443014

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