SEPHS1P6

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
1cellular ketone body metabolic process (GO:0046950)6.97551690
2phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)6.33672866
3ketone body metabolic process (GO:1902224)6.17385492
4membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.87773089
5neuron remodeling (GO:0016322)4.80528766
6negative regulation of neurotransmitter secretion (GO:0046929)4.77764248
7negative regulation of neurotransmitter transport (GO:0051589)4.41492962
8cell communication by electrical coupling involved in cardiac conduction (GO:0086064)4.18502894
9regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO4.16984850
10positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)4.14192601
11positive regulation of neurotransmitter secretion (GO:0001956)4.06503653
12response to stimulus involved in regulation of muscle adaptation (GO:0014874)3.95860311
13regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)3.94923560
14regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.88923751
15regulation of synaptic vesicle exocytosis (GO:2000300)3.87807250
16regulation of synaptic vesicle transport (GO:1902803)3.85922825
17postsynaptic membrane organization (GO:0001941)3.83862562
18nerve growth factor signaling pathway (GO:0038180)3.80183024
19regulation of actin filament-based movement (GO:1903115)3.62604937
20regulation of membrane repolarization (GO:0060306)3.58423394
21positive regulation of neurotransmitter transport (GO:0051590)3.55669866
22striatum development (GO:0021756)3.52740534
23regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)3.48212514
24presynaptic membrane assembly (GO:0097105)3.47084007
25adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)3.46215411
26sarcoplasmic reticulum calcium ion transport (GO:0070296)3.45391036
27cardiac myofibril assembly (GO:0055003)3.44625890
28regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.42249356
29cell communication involved in cardiac conduction (GO:0086065)3.42242656
30regulation of pigment cell differentiation (GO:0050932)3.37548650
31regulation of sodium ion transmembrane transport (GO:1902305)3.36622320
32negative regulation of granulocyte differentiation (GO:0030853)3.35708799
33positive regulation of sodium ion transmembrane transport (GO:1902307)3.34648864
34cell communication by electrical coupling (GO:0010644)3.33731352
35peristalsis (GO:0030432)3.31113386
36presynaptic membrane organization (GO:0097090)3.30110277
37forebrain neuron development (GO:0021884)3.29274466
38positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.26126755
39dopamine receptor signaling pathway (GO:0007212)3.25345769
40positive regulation of T cell differentiation in thymus (GO:0033089)3.24970369
41positive regulation of sodium ion transport (GO:0010765)3.23672130
42sarcomere organization (GO:0045214)3.23414509
43negative regulation of cytosolic calcium ion concentration (GO:0051481)3.22296828
44regulation of cardiac muscle cell contraction (GO:0086004)3.18604358
45stress granule assembly (GO:0034063)3.18390049
46neuromuscular synaptic transmission (GO:0007274)3.17868404
47regulation of synapse structural plasticity (GO:0051823)3.14915789
48positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.11775077
49response to inactivity (GO:0014854)3.09858660
50detection of calcium ion (GO:0005513)3.09780629
51regulation of sodium ion transmembrane transporter activity (GO:2000649)3.08314139
52synaptic vesicle docking involved in exocytosis (GO:0016081)3.08203335
53cardiac muscle contraction (GO:0060048)3.07876906
54action potential (GO:0001508)3.03799899
55positive regulation of heart rate (GO:0010460)3.02236413
56regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)3.02099551
57negative regulation of circadian rhythm (GO:0042754)3.01933467
58vocalization behavior (GO:0071625)3.01882982
59ventricular cardiac muscle cell action potential (GO:0086005)3.01668285
60cardiac ventricle formation (GO:0003211)3.01048999
61maternal behavior (GO:0042711)2.99042903
62cardiac muscle hypertrophy (GO:0003300)2.98493410
63regulation of female receptivity (GO:0045924)2.97026372
64cardiac chamber formation (GO:0003207)2.96796993
65serotonin metabolic process (GO:0042428)2.95008658
66myofibril assembly (GO:0030239)2.93529696
67neuron cell-cell adhesion (GO:0007158)2.92193770
68dendritic spine morphogenesis (GO:0060997)2.89953335
69regulation of neurotransmitter transport (GO:0051588)2.89546744
70organ growth (GO:0035265)2.89005853
71cellular response to epinephrine stimulus (GO:0071872)2.88773828
72regulation of cell communication by electrical coupling (GO:0010649)2.88690953
73regulation of neurotransmitter uptake (GO:0051580)2.88540811
74muscle filament sliding (GO:0030049)2.86107655
75actin-myosin filament sliding (GO:0033275)2.86107655
76striated muscle hypertrophy (GO:0014897)2.84529623
77heart contraction (GO:0060047)2.84124759
78heart process (GO:0003015)2.84124759
79cardiac muscle cell action potential (GO:0086001)2.83630698
80regulation of heart rate (GO:0002027)2.83437974
81adrenergic receptor signaling pathway (GO:0071875)2.83137583
82homocysteine metabolic process (GO:0050667)2.82767177
83positive regulation of dendritic spine development (GO:0060999)2.82020131
84positive regulation of potassium ion transmembrane transport (GO:1901381)2.80713828
85negative regulation of hormone biosynthetic process (GO:0032353)2.79900087
86negative regulation of synaptic transmission, GABAergic (GO:0032229)2.79512710
87urinary tract smooth muscle contraction (GO:0014848)2.78535320
88transmission of nerve impulse (GO:0019226)2.76722261
89response to epinephrine (GO:0071871)2.76279180
90regulation of neurotransmitter secretion (GO:0046928)2.76134950
91neurotransmitter-gated ion channel clustering (GO:0072578)2.74883845
92regulation of striated muscle contraction (GO:0006942)2.74635128
93regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.74128014
94neuronal action potential (GO:0019228)2.72683532
95auditory behavior (GO:0031223)2.72480457
96membrane depolarization during action potential (GO:0086010)2.72354430
97dendrite development (GO:0016358)2.71452071
98calcium-mediated signaling using intracellular calcium source (GO:0035584)2.71235278
99regulation of voltage-gated calcium channel activity (GO:1901385)2.69865671
100thalamus development (GO:0021794)2.69136583

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.49434238
2GLI1_17442700_ChIP-ChIP_MESCs_Mouse3.28055116
3GBX2_23144817_ChIP-Seq_PC3_Human2.79508337
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.62365263
5JARID2_20064375_ChIP-Seq_MESCs_Mouse2.57824621
6EZH2_27304074_Chip-Seq_ESCs_Mouse2.53331697
7SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.47718283
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.38119854
9RNF2_18974828_ChIP-Seq_MESCs_Mouse2.38119854
10VDR_22108803_ChIP-Seq_LS180_Human2.37270575
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.31401932
12EZH2_27294783_Chip-Seq_ESCs_Mouse2.27983426
13DROSHA_22980978_ChIP-Seq_HELA_Human2.16422749
14RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.15539529
15CDX2_19796622_ChIP-Seq_MESCs_Mouse2.06424532
16EED_16625203_ChIP-ChIP_MESCs_Mouse2.05425994
17SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.01923256
18SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.97691530
19RNF2_27304074_Chip-Seq_ESCs_Mouse1.97090946
20SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.96729091
21MTF2_20144788_ChIP-Seq_MESCs_Mouse1.96712604
22EP300_21415370_ChIP-Seq_HL-1_Mouse1.96085775
23ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.91240700
24SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.90909560
25ZFP57_27257070_Chip-Seq_ESCs_Mouse1.89145293
26REST_21632747_ChIP-Seq_MESCs_Mouse1.87233745
27RNF2_27304074_Chip-Seq_NSC_Mouse1.81052132
28CBX2_27304074_Chip-Seq_ESCs_Mouse1.79687400
29SUZ12_27294783_Chip-Seq_ESCs_Mouse1.77911346
30NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.65233973
31RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.62134588
32ERG_21242973_ChIP-ChIP_JURKAT_Human1.61860908
33IGF1R_20145208_ChIP-Seq_DFB_Human1.58272248
34PIAS1_25552417_ChIP-Seq_VCAP_Human1.53442149
35STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.50805872
36PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.50693416
37PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.50400392
38CTBP1_25329375_ChIP-Seq_LNCAP_Human1.50189261
39CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.45812225
40CTBP2_25329375_ChIP-Seq_LNCAP_Human1.45753373
41RING1B_27294783_Chip-Seq_ESCs_Mouse1.44247018
42AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.43244120
43SMAD3_21741376_ChIP-Seq_EPCs_Human1.37909222
44GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.35824688
45SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.33861221
46SMAD4_21799915_ChIP-Seq_A2780_Human1.33080303
47AR_21572438_ChIP-Seq_LNCaP_Human1.31681512
48SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.31409685
49REST_18959480_ChIP-ChIP_MESCs_Mouse1.31002739
50RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.29384012
51BCAT_22108803_ChIP-Seq_LS180_Human1.28718554
52RARB_27405468_Chip-Seq_BRAIN_Mouse1.25858868
53HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.25484837
54POU3F2_20337985_ChIP-ChIP_501MEL_Human1.24680813
55BMI1_23680149_ChIP-Seq_NPCS_Mouse1.22088623
56LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse1.20272069
57HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.19133694
58FUS_26573619_Chip-Seq_HEK293_Human1.19121986
59MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.19105437
60TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.18533488
61WT1_25993318_ChIP-Seq_PODOCYTE_Human1.18434204
62PCGF2_27294783_Chip-Seq_NPCs_Mouse1.17893836
63PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.17027701
64TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.16635646
65SOX2_21211035_ChIP-Seq_LN229_Gbm1.14769161
66STAT3_23295773_ChIP-Seq_U87_Human1.12782663
67TP53_20018659_ChIP-ChIP_R1E_Mouse1.12463791
68CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.12307255
69P300_19829295_ChIP-Seq_ESCs_Human1.11915470
70TCF4_23295773_ChIP-Seq_U87_Human1.11175160
71AR_19668381_ChIP-Seq_PC3_Human1.10157489
72RING1B_27294783_Chip-Seq_NPCs_Mouse1.09763420
73TOP2B_26459242_ChIP-Seq_MCF-7_Human1.09341288
74KDM2B_26808549_Chip-Seq_REH_Human1.08515972
75PCGF2_27294783_Chip-Seq_ESCs_Mouse1.07134980
76NR3C1_21868756_ChIP-Seq_MCF10A_Human1.06427763
77FLI1_27457419_Chip-Seq_LIVER_Mouse1.05914126
78KLF5_20875108_ChIP-Seq_MESCs_Mouse1.04641640
79SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.03557392
80AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.02704026
81OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.02120632
82EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.00110836
83OCT1_27270436_Chip-Seq_PROSTATE_Human0.99811133
84CBP_20019798_ChIP-Seq_JUKART_Human0.99199133
85IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.99199133
86RBPJ_22232070_ChIP-Seq_NCS_Mouse0.98246492
87TDRD3_21172665_ChIP-Seq_MCF-7_Human0.96894377
88SUZ12_27294783_Chip-Seq_NPCs_Mouse0.96828548
89RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.96349343
90EZH2_27294783_Chip-Seq_NPCs_Mouse0.94088677
91NFE2_27457419_Chip-Seq_LIVER_Mouse0.93324873
92MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.92906745
93TP53_16413492_ChIP-PET_HCT116_Human0.91301173
94IKZF1_21737484_ChIP-ChIP_HCT116_Human0.90490397
95NANOG_19829295_ChIP-Seq_ESCs_Human0.90483930
96SOX2_19829295_ChIP-Seq_ESCs_Human0.90483930
97SMAD4_21741376_ChIP-Seq_HESCs_Human0.90190497
98PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.90179575
99RUNX2_22187159_ChIP-Seq_PCA_Human0.88847037
100TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.88653431

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0009379_abnormal_foot_pigmentation7.12339240
2MP0005409_darkened_coat_color4.23026863
3MP0001188_hyperpigmentation4.00078043
4MP0003880_abnormal_central_pattern3.84631068
5MP0003646_muscle_fatigue3.16172203
6MP0000751_myopathy2.58218415
7MP0004859_abnormal_synaptic_plasticity2.56131139
8MP0005423_abnormal_somatic_nervous2.49503312
9MP0003283_abnormal_digestive_organ2.36193778
10MP0000750_abnormal_muscle_regeneration2.14789571
11MP0004215_abnormal_myocardial_fiber2.12556019
12MP0006276_abnormal_autonomic_nervous2.10819574
13MP0003122_maternal_imprinting2.06302740
14MP0002837_dystrophic_cardiac_calcinosis2.05781328
15MP0004043_abnormal_pH_regulation1.96380863
16MP0004084_abnormal_cardiac_muscle1.95609467
17MP0004510_myositis1.95101192
18MP0001529_abnormal_vocalization1.92256979
19MP0004130_abnormal_muscle_cell1.88757303
20MP0004145_abnormal_muscle_electrophysio1.82073500
21MP0000015_abnormal_ear_pigmentation1.78686146
22MP0003635_abnormal_synaptic_transmissio1.77911904
23MP0001501_abnormal_sleep_pattern1.76572174
24MP0001486_abnormal_startle_reflex1.71672739
25MP0000372_irregular_coat_pigmentation1.68161872
26MP0002234_abnormal_pharynx_morphology1.65750251
27MP0004036_abnormal_muscle_relaxation1.65557482
28MP0005174_abnormal_tail_pigmentation1.62837352
29MP0002064_seizures1.62618250
30MP0002638_abnormal_pupillary_reflex1.57117091
31MP0009780_abnormal_chondrocyte_physiolo1.55723799
32MP0002106_abnormal_muscle_physiology1.54744849
33MP0009745_abnormal_behavioral_response1.53648010
34MP0002063_abnormal_learning/memory/cond1.52493058
35MP0002272_abnormal_nervous_system1.50881460
36MP0003183_abnormal_peptide_metabolism1.48076610
37MP0003137_abnormal_impulse_conducting1.48024158
38MP0004233_abnormal_muscle_weight1.45483047
39MP0004885_abnormal_endolymph1.41516276
40MP0000778_abnormal_nervous_system1.39580043
41MP0004484_altered_response_of1.38276832
42MP0005620_abnormal_muscle_contractility1.37600144
43MP0009046_muscle_twitch1.36074661
44MP0002972_abnormal_cardiac_muscle1.34070037
45MP0002572_abnormal_emotion/affect_behav1.29671592
46MP0005646_abnormal_pituitary_gland1.25197113
47MP0005369_muscle_phenotype1.23101466
48MP0002127_abnormal_cardiovascular_syste1.18813613
49MP0003136_yellow_coat_color1.16252807
50MP0001485_abnormal_pinna_reflex1.14834503
51MP0001984_abnormal_olfaction1.10496658
52MP0001544_abnormal_cardiovascular_syste1.10412226
53MP0005385_cardiovascular_system_phenoty1.10412226
54MP0006138_congestive_heart_failure1.10127892
55MP0002184_abnormal_innervation1.08029883
56MP0000749_muscle_degeneration1.02211407
57MP0004087_abnormal_muscle_fiber1.00780578
58MP0005670_abnormal_white_adipose0.99706357
59MP0004270_analgesia0.97845951
60MP0004085_abnormal_heartbeat0.97253097
61MP0004142_abnormal_muscle_tone0.95116681
62MP0002067_abnormal_sensory_capabilities0.92479422
63MP0008569_lethality_at_weaning0.92149460
64MP0002557_abnormal_social/conspecific_i0.91645592
65MP0004147_increased_porphyrin_level0.89730136
66MP0003690_abnormal_glial_cell0.82875038
67MP0002066_abnormal_motor_capabilities/c0.79683732
68MP0005171_absent_coat_pigmentation0.79019323
69MP0003045_fibrosis0.77950833
70MP0000343_altered_response_to0.77612824
71MP0005075_abnormal_melanosome_morpholog0.77142467
72MP0008775_abnormal_heart_ventricle0.76921857
73MP0002734_abnormal_mechanical_nocicepti0.76869782
74MP0001764_abnormal_homeostasis0.75866321
75MP0002882_abnormal_neuron_morphology0.74627103
76MP0004924_abnormal_behavior0.72022207
77MP0005386_behavior/neurological_phenoty0.72022207
78MP0000026_abnormal_inner_ear0.70754439
79MP0003567_abnormal_fetal_cardiomyocyte0.70430566
80MP0002163_abnormal_gland_morphology0.70350368
81MP0002909_abnormal_adrenal_gland0.69658624
82MP0001968_abnormal_touch/_nociception0.69419984
83MP0005645_abnormal_hypothalamus_physiol0.69053801
84MP0002249_abnormal_larynx_morphology0.68843757
85MP0010386_abnormal_urinary_bladder0.68779745
86MP0003119_abnormal_digestive_system0.66656483
87MP0005535_abnormal_body_temperature0.66350458
88MP0002822_catalepsy0.65999529
89MP0002735_abnormal_chemical_nociception0.65558458
90MP0010368_abnormal_lymphatic_system0.65542411
91MP0001664_abnormal_digestion0.65102016
92MP0008995_early_reproductive_senescence0.63040499
93MP0001440_abnormal_grooming_behavior0.62696233
94MP0000371_diluted_coat_color0.61996372
95MP0004811_abnormal_neuron_physiology0.61263783
96MP0003221_abnormal_cardiomyocyte_apopto0.61125560
97MP0000955_abnormal_spinal_cord0.61019877
98MP0001502_abnormal_circadian_rhythm0.60344077
99MP0002332_abnormal_exercise_endurance0.59426812
100MP0002152_abnormal_brain_morphology0.58876646

Predicted human phenotypes

RankGene SetZ-score
1Ketoacidosis (HP:0001993)5.41576528
2Methylmalonic acidemia (HP:0002912)5.39225406
3Sudden death (HP:0001699)4.42839813
4Skin nodule (HP:0200036)4.34142920
5Bundle branch block (HP:0011710)4.03230043
6Facial hemangioma (HP:0000329)3.91882789
7Syncope (HP:0001279)3.88747802
8Abnormality of the vitamin B12 metabolism (HP:0004341)3.88522150
9Abnormality of DNA repair (HP:0003254)3.86140898
10Abnormality of vitamin B metabolism (HP:0004340)3.67155781
11Atrial fibrillation (HP:0005110)3.63485590
12Myokymia (HP:0002411)3.62256930
13Chronic hepatic failure (HP:0100626)3.61054985
14Delayed CNS myelination (HP:0002188)3.53018722
15Methylmalonic aciduria (HP:0012120)3.48857728
16Metaphyseal dysplasia (HP:0100255)3.48041895
17Ketosis (HP:0001946)3.47524515
18Muscle fiber splitting (HP:0003555)3.46554305
19Ventricular tachycardia (HP:0004756)3.43443937
20Atrioventricular block (HP:0001678)3.38211501
21Primary atrial arrhythmia (HP:0001692)3.35354416
22Ventricular arrhythmia (HP:0004308)3.30284152
23Supraventricular tachycardia (HP:0004755)3.17320050
24Hyperglycinemia (HP:0002154)3.11223252
25Calf muscle hypertrophy (HP:0008981)3.10065623
26Epileptiform EEG discharges (HP:0011182)3.07688031
27Ventricular fibrillation (HP:0001663)3.07386548
28Supraventricular arrhythmia (HP:0005115)3.05729536
29Heart block (HP:0012722)3.05273623
30Muscle hypertrophy of the lower extremities (HP:0008968)3.03894130
31Tachypnea (HP:0002789)3.03863930
32Choroideremia (HP:0001139)3.03270355
33Hyporeflexia of lower limbs (HP:0002600)2.95890658
34Prolonged QT interval (HP:0001657)2.87110657
35EEG with generalized epileptiform discharges (HP:0011198)2.73787802
36Bradycardia (HP:0001662)2.71934575
37Abnormality of the calf musculature (HP:0001430)2.69500427
38Abnormal atrioventricular conduction (HP:0005150)2.68790319
39Palpitations (HP:0001962)2.68614414
40Hypsarrhythmia (HP:0002521)2.67525864
41Right ventricular cardiomyopathy (HP:0011663)2.63452988
42Focal seizures (HP:0007359)2.61761755
43Homocystinuria (HP:0002156)2.60869508
44Abnormality of homocysteine metabolism (HP:0010919)2.60869508
45Myotonia (HP:0002486)2.58116019
46Abnormality of vitamin metabolism (HP:0100508)2.52785848
47Tongue fasciculations (HP:0001308)2.52584894
48Abnormal EKG (HP:0003115)2.49446230
49Abnormality of the metopic suture (HP:0005556)2.48583837
50Amelogenesis imperfecta (HP:0000705)2.44214092
51Muscle fibrillation (HP:0010546)2.39800318
52Focal motor seizures (HP:0011153)2.37282134
53Prominent metopic ridge (HP:0005487)2.36667851
54Muscle fiber inclusion bodies (HP:0100299)2.36333755
55Subaortic stenosis (HP:0001682)2.34329096
56Abnormality of the left ventricular outflow tract (HP:0011103)2.34329096
57Lipoatrophy (HP:0100578)2.28932632
58Megaloblastic anemia (HP:0001889)2.26647998
59Dicarboxylic aciduria (HP:0003215)2.24791424
60Abnormality of dicarboxylic acid metabolism (HP:0010995)2.24791424
61Albinism (HP:0001022)2.24045063
62Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)2.23336182
63Delayed myelination (HP:0012448)2.20878990
64Conjunctival telangiectasia (HP:0000524)2.20598203
65EMG: myopathic abnormalities (HP:0003458)2.15583188
66Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.14020951
67Hypothermia (HP:0002045)2.12985643
68Limb hypertonia (HP:0002509)2.12013211
69Nemaline bodies (HP:0003798)2.07799832
70Increased hepatocellular lipid droplets (HP:0006565)2.06646886
71Lower limb asymmetry (HP:0100559)2.05122573
72Left ventricular hypertrophy (HP:0001712)2.03830825
73Heterochromia iridis (HP:0001100)2.02623738
74Generalized tonic-clonic seizures (HP:0002069)2.00916178
75Ankle clonus (HP:0011448)1.96210268
76Buphthalmos (HP:0000557)1.95985423
77Broad alveolar ridges (HP:0000187)1.95304221
78Adactyly (HP:0009776)1.95254671
79Exercise-induced myalgia (HP:0003738)1.94471708
80Febrile seizures (HP:0002373)1.92289972
81Hypoplastic pelvis (HP:0008839)1.91150294
82Lymphangioma (HP:0100764)1.86619920
83Atonic seizures (HP:0010819)1.85613468
84Lipid accumulation in hepatocytes (HP:0006561)1.82584500
85Frequent falls (HP:0002359)1.80771392
86Exercise-induced muscle cramps (HP:0003710)1.77846889
87Type 1 muscle fiber predominance (HP:0003803)1.77542567
88Hyperventilation (HP:0002883)1.76349846
89Dilated cardiomyopathy (HP:0001644)1.72965236
90Hypoglycemic coma (HP:0001325)1.71021525
91Neck muscle weakness (HP:0000467)1.67109196
92Incomplete penetrance (HP:0003829)1.66924346
93Epileptic encephalopathy (HP:0200134)1.65172326
94Gout (HP:0001997)1.61073787
95Neonatal onset (HP:0003623)1.60991957
96Abnormality of glycine metabolism (HP:0010895)1.60975533
97Abnormality of serine family amino acid metabolism (HP:0010894)1.60975533
98Abnormality of the ischium (HP:0003174)1.60462268
99Muscular hypotonia of the trunk (HP:0008936)1.59604280
100Hypoplastic ischia (HP:0003175)1.59194614

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TAOK36.04000999
2MARK13.87131063
3OBSCN3.35412273
4MAP4K22.84274051
5PHKG12.47717182
6PHKG22.47717182
7NTRK22.42500926
8BLK2.30020140
9EPHA42.24761863
10AKT32.09074569
11DMPK1.99207615
12PINK11.88132457
13PAK31.75743887
14TTN1.70119008
15MAPK131.67398342
16EPHB21.66593814
17MAP2K41.63155243
18MAP2K31.56179277
19NTRK31.56162273
20VRK21.53237797
21MUSK1.46383166
22MAP3K61.45605341
23WNK31.45374088
24MAP3K91.43438204
25STK111.29940690
26GRK11.28754166
27DYRK21.28012881
28RPS6KA61.27311740
29RPS6KL11.24120527
30RPS6KC11.24120527
31ERN11.21497428
32MAP3K41.17810659
33PAK61.08844839
34TAOK11.04427224
35CAMK41.02298274
36CAMK11.02072477
37ICK1.01885872
38CAMK2A1.00985190
39PNCK0.98761523
40MAP2K70.94472687
41CAMK2B0.92795081
42BRAF0.92388892
43LATS20.92012474
44PRKD30.91550872
45SGK20.90135377
46CDK90.89836508
47MINK10.88583790
48GRK50.86867250
49DAPK20.86284597
50EEF2K0.84811184
51UHMK10.84062363
52CAMK2D0.84013681
53MAPKAPK50.82026156
54WNK40.81900130
55MAPK120.77628415
56PKN10.75432312
57MAP3K110.74892541
58KSR10.74408045
59MAPK40.73798114
60RPS6KA20.72730952
61LMTK20.72592655
62MYLK0.72179972
63SGK4940.70258867
64SGK2230.70258867
65EPHA30.64455208
66MAP2K60.63341865
67PRKACA0.62815595
68ALK0.61870338
69ADRBK20.61662236
70NTRK10.59464291
71MAP2K10.59135262
72PRKACG0.56166146
73RPS6KA30.55807771
74PRKCE0.54411537
75MAP3K70.54133864
76VRK10.53075649
77STK390.51657494
78SCYL20.51654228
79CDK50.50914129
80PRKCG0.50173092
81RPS6KB20.49618969
82PIK3CA0.45198045
83TNIK0.44540864
84TRPM70.43764097
85DYRK1B0.41727127
86CDK150.41278159
87BCKDK0.40524342
88PRKCZ0.40102822
89MAPK150.39224275
90PRKG10.38930492
91PRKAA10.38887218
92DYRK1A0.38879488
93AKT20.38714216
94PDPK10.38635784
95PRKCH0.37850719
96TIE10.36753059
97CDK11A0.36123124
98INSRR0.36081288
99ARAF0.35654963
100CSNK1G20.35310561

Predicted pathways (KEGG)

RankGene SetZ-score
1Synthesis and degradation of ketone bodies_Homo sapiens_hsa000726.85573653
2Cardiac muscle contraction_Homo sapiens_hsa042602.50450017
3Butanoate metabolism_Homo sapiens_hsa006502.50419909
4Insulin secretion_Homo sapiens_hsa049112.37268777
5Circadian entrainment_Homo sapiens_hsa047132.32004035
6Long-term potentiation_Homo sapiens_hsa047202.18305657
7Nicotine addiction_Homo sapiens_hsa050332.15237044
8Salivary secretion_Homo sapiens_hsa049702.06274069
9Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.99890105
10Dilated cardiomyopathy_Homo sapiens_hsa054141.97213355
11Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.94208697
12Cocaine addiction_Homo sapiens_hsa050301.92436892
13Renin secretion_Homo sapiens_hsa049241.88443395
14Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.86559842
15Amphetamine addiction_Homo sapiens_hsa050311.82261471
16Cholinergic synapse_Homo sapiens_hsa047251.79314856
17Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.62477177
18Pancreatic secretion_Homo sapiens_hsa049721.61380292
19Gastric acid secretion_Homo sapiens_hsa049711.60906040
20Glutamatergic synapse_Homo sapiens_hsa047241.60464231
21Morphine addiction_Homo sapiens_hsa050321.52087495
22Calcium signaling pathway_Homo sapiens_hsa040201.49160244
23Aldosterone synthesis and secretion_Homo sapiens_hsa049251.48912537
24Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.47958630
25Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.42194344
26Dopaminergic synapse_Homo sapiens_hsa047281.40801672
27cAMP signaling pathway_Homo sapiens_hsa040241.39514229
28cGMP-PKG signaling pathway_Homo sapiens_hsa040221.30300132
29Vascular smooth muscle contraction_Homo sapiens_hsa042701.29868248
30Taste transduction_Homo sapiens_hsa047421.28388681
31Long-term depression_Homo sapiens_hsa047301.28302957
32GABAergic synapse_Homo sapiens_hsa047271.26213355
33Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.24198736
34Oxytocin signaling pathway_Homo sapiens_hsa049211.22448105
35Alzheimers disease_Homo sapiens_hsa050101.20223316
36Serotonergic synapse_Homo sapiens_hsa047261.16952886
37Primary bile acid biosynthesis_Homo sapiens_hsa001201.16228521
38Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.12343746
39Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.06001116
40Linoleic acid metabolism_Homo sapiens_hsa005911.04819390
41Glucagon signaling pathway_Homo sapiens_hsa049221.02082074
42Parkinsons disease_Homo sapiens_hsa050121.00483234
43Huntingtons disease_Homo sapiens_hsa050160.98424365
44Melanogenesis_Homo sapiens_hsa049160.96435853
45Olfactory transduction_Homo sapiens_hsa047400.95687914
46Oxidative phosphorylation_Homo sapiens_hsa001900.94600357
47GnRH signaling pathway_Homo sapiens_hsa049120.93929930
48Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.92780922
49Selenocompound metabolism_Homo sapiens_hsa004500.92725925
50Synaptic vesicle cycle_Homo sapiens_hsa047210.91311202
51Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.90386128
52Thyroid hormone synthesis_Homo sapiens_hsa049180.84738861
53Gap junction_Homo sapiens_hsa045400.84693921
54Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.83517436
55alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.83450249
56Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.82942828
57Bile secretion_Homo sapiens_hsa049760.82188534
58Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.79187364
59Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.78122766
60Arginine biosynthesis_Homo sapiens_hsa002200.77617655
61Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.76713954
62Type II diabetes mellitus_Homo sapiens_hsa049300.74624482
63Propanoate metabolism_Homo sapiens_hsa006400.74584762
64Circadian rhythm_Homo sapiens_hsa047100.73779898
65Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.66016675
66Steroid hormone biosynthesis_Homo sapiens_hsa001400.65391902
67Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.61547028
68Renal cell carcinoma_Homo sapiens_hsa052110.60446180
69Ovarian steroidogenesis_Homo sapiens_hsa049130.60187880
70Adipocytokine signaling pathway_Homo sapiens_hsa049200.58118401
71African trypanosomiasis_Homo sapiens_hsa051430.58047969
72MAPK signaling pathway_Homo sapiens_hsa040100.55328473
73Estrogen signaling pathway_Homo sapiens_hsa049150.54813069
74Fatty acid biosynthesis_Homo sapiens_hsa000610.52986366
75Phenylalanine metabolism_Homo sapiens_hsa003600.51631334
76Rap1 signaling pathway_Homo sapiens_hsa040150.51593670
77Thyroid hormone signaling pathway_Homo sapiens_hsa049190.49515123
78Ribosome_Homo sapiens_hsa030100.49318657
79Insulin resistance_Homo sapiens_hsa049310.48740788
80Arginine and proline metabolism_Homo sapiens_hsa003300.47161118
81Axon guidance_Homo sapiens_hsa043600.46755264
82Vitamin digestion and absorption_Homo sapiens_hsa049770.46080692
83Maturity onset diabetes of the young_Homo sapiens_hsa049500.44175892
84Ras signaling pathway_Homo sapiens_hsa040140.43861656
85Prolactin signaling pathway_Homo sapiens_hsa049170.42735738
862-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.42663563
87Fat digestion and absorption_Homo sapiens_hsa049750.42079674
88Nitrogen metabolism_Homo sapiens_hsa009100.39485747
89Ether lipid metabolism_Homo sapiens_hsa005650.39212585
90PPAR signaling pathway_Homo sapiens_hsa033200.37014590
91Phospholipase D signaling pathway_Homo sapiens_hsa040720.35127018
92ABC transporters_Homo sapiens_hsa020100.34564946
93Wnt signaling pathway_Homo sapiens_hsa043100.33921105
94Carbohydrate digestion and absorption_Homo sapiens_hsa049730.31776781
95Sphingolipid signaling pathway_Homo sapiens_hsa040710.31729640
96Insulin signaling pathway_Homo sapiens_hsa049100.30749491
97Basal cell carcinoma_Homo sapiens_hsa052170.29553069
98Histidine metabolism_Homo sapiens_hsa003400.28570466
99Phototransduction_Homo sapiens_hsa047440.28503497
100Fanconi anemia pathway_Homo sapiens_hsa034600.27462140

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