ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	dendritic spine morphogenesis (GO:0060997)	4.99706848
2	urinary tract smooth muscle contraction (GO:0014848)	4.85786055
3	membrane depolarization during cardiac muscle cell action potential (GO:0086012)	4.77922703
4	synaptic vesicle maturation (GO:0016188)	4.54612670
5	positive regulation of excitatory postsynaptic membrane potential (GO:2000463)	4.17637098
6	protein localization to synapse (GO:0035418)	4.06517353
7	adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)	4.06224002
8	negative regulation of synaptic transmission, glutamatergic (GO:0051967)	4.01093599
9	ionotropic glutamate receptor signaling pathway (GO:0035235)	3.95275954
10	negative regulation of immunoglobulin mediated immune response (GO:0002890)	3.94817635
11	negative regulation of B cell mediated immunity (GO:0002713)	3.94817635
12	vocalization behavior (GO:0071625)	3.81586511
13	regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)	3.81053950
14	regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	3.76961061
15	negative regulation of leukocyte mediated cytotoxicity (GO:0001911)	3.74505767
16	negative regulation of cell killing (GO:0031342)	3.74505767
17	cellular response to monoamine stimulus (GO:0071868)	3.72982590
18	cellular response to catecholamine stimulus (GO:0071870)	3.72982590
19	synaptic vesicle docking involved in exocytosis (GO:0016081)	3.71227402
20	astrocyte development (GO:0014002)	3.66078400
21	synaptic vesicle exocytosis (GO:0016079)	3.65547619
22	cell communication by electrical coupling involved in cardiac conduction (GO:0086064)	3.62555901
23	locomotory exploration behavior (GO:0035641)	3.56108279
24	postsynaptic membrane organization (GO:0001941)	3.52460789
25	cellular potassium ion homeostasis (GO:0030007)	3.48213188
26	regulation of relaxation of muscle (GO:1901077)	3.41001613
27	neuron cell-cell adhesion (GO:0007158)	3.39973865
28	regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	3.37433027
29	response to monoamine (GO:0071867)	3.36841839
30	response to catecholamine (GO:0071869)	3.36841839
31	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act	3.30890340
32	regulation of synaptic vesicle exocytosis (GO:2000300)	3.30693181
33	regulation of Rac protein signal transduction (GO:0035020)	3.29122785
34	coronary vasculature morphogenesis (GO:0060977)	3.28470152
35	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO	3.28469756
36	regulation of actin filament-based movement (GO:1903115)	3.26890224
37	sarcoplasmic reticulum calcium ion transport (GO:0070296)	3.24450304
38	regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)	3.19873936
39	regulation of glutamate receptor signaling pathway (GO:1900449)	3.17349503
40	glutamate secretion (GO:0014047)	3.08082218
41	regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)	3.08010333
42	behavioral response to cocaine (GO:0048148)	3.07015329
43	regulation of cardiac muscle cell contraction (GO:0086004)	3.05753955
44	regulation of cell communication by electrical coupling (GO:0010649)	3.04756269
45	membrane depolarization during action potential (GO:0086010)	2.96380813
46	positive regulation of membrane potential (GO:0045838)	2.95766513
47	regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	2.95189277
48	detection of temperature stimulus involved in sensory perception of pain (GO:0050965)	2.95127177
49	detection of temperature stimulus involved in sensory perception (GO:0050961)	2.95127177
50	regulation of synaptic transmission, glutamatergic (GO:0051966)	2.94768810
51	cell communication by electrical coupling (GO:0010644)	2.92961382
52	cellular response to epinephrine stimulus (GO:0071872)	2.92778809
53	glutamate receptor signaling pathway (GO:0007215)	2.92154622
54	righting reflex (GO:0060013)	2.91606308
55	neuron-neuron synaptic transmission (GO:0007270)	2.90678762
56	regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)	2.89524258
57	negative regulation of lymphocyte mediated immunity (GO:0002707)	2.88368341
58	positive regulation of dendritic spine development (GO:0060999)	2.87996392
59	regulation of cAMP-dependent protein kinase activity (GO:2000479)	2.86383844
60	dendritic spine organization (GO:0097061)	2.84999027
61	transmission of nerve impulse (GO:0019226)	2.81190148
62	regulation of excitatory postsynaptic membrane potential (GO:0060079)	2.80495335
63	long-term memory (GO:0007616)	2.80302039
64	positive regulation of p38MAPK cascade (GO:1900745)	2.79909616
65	response to stimulus involved in regulation of muscle adaptation (GO:0014874)	2.79517835
66	startle response (GO:0001964)	2.78662687
67	axonal fasciculation (GO:0007413)	2.78480397
68	regulation of respiratory gaseous exchange by neurological system process (GO:0002087)	2.78148235
69	negative regulation of potassium ion transport (GO:0043267)	2.77466123
70	cardiac muscle contraction (GO:0060048)	2.76768138
71	positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)	2.76719442
72	neuromuscular process controlling posture (GO:0050884)	2.75212552
73	sleep (GO:0030431)	2.73012564
74	regulation of acyl-CoA biosynthetic process (GO:0050812)	2.71848488
75	muscle filament sliding (GO:0030049)	2.71737893
76	actin-myosin filament sliding (GO:0033275)	2.71737893
77	positive regulation of phosphoprotein phosphatase activity (GO:0032516)	2.71372451
78	synaptic transmission, glutamatergic (GO:0035249)	2.70853291
79	exploration behavior (GO:0035640)	2.70110993
80	regulation of short-term neuronal synaptic plasticity (GO:0048172)	2.69763522
81	L-amino acid import (GO:0043092)	2.69428696
82	negative regulation of type 2 immune response (GO:0002829)	2.68864037
83	NIK/NF-kappaB signaling (GO:0038061)	2.68582531
84	regulation of postsynaptic membrane potential (GO:0060078)	2.67617443
85	response to epinephrine (GO:0071871)	2.66698442
86	detection of calcium ion (GO:0005513)	2.66491686
87	substrate-independent telencephalic tangential migration (GO:0021826)	2.64570368
88	substrate-independent telencephalic tangential interneuron migration (GO:0021843)	2.64570368
89	N-glycan processing (GO:0006491)	2.62963270
90	neurotransmitter secretion (GO:0007269)	2.61383653
91	regulation of voltage-gated calcium channel activity (GO:1901385)	2.61181596
92	calcium ion transport into cytosol (GO:0060402)	2.60248525
93	presynaptic membrane organization (GO:0097090)	2.59504396
94	auditory receptor cell stereocilium organization (GO:0060088)	2.55251439
95	neuron recognition (GO:0008038)	2.55214738
96	chemosensory behavior (GO:0007635)	2.54357014
97	membrane depolarization (GO:0051899)	2.54330818
98	regulation of sequestering of calcium ion (GO:0051282)	2.54290258
99	cytosolic calcium ion transport (GO:0060401)	2.53118657
100	fusion of sperm to egg plasma membrane (GO:0007342)	2.52602374

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	EZH2_22144423_ChIP-Seq_EOC_Human	4.02141334
2	GBX2_23144817_ChIP-Seq_PC3_Human	2.69673824
3	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	2.65649279
4	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	2.55077969
5	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.51471667
6	JARID2_20064375_ChIP-Seq_MESCs_Mouse	2.33165221
7	SUZ12_18974828_ChIP-Seq_MESCs_Mouse	2.21121547
8	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	2.16751688
9	EZH2_27304074_Chip-Seq_ESCs_Mouse	2.12273955
10	SUZ12_20075857_ChIP-Seq_MESCs_Mouse	2.09812957
11	SUZ12_18692474_ChIP-Seq_MEFs_Mouse	2.08671570
12	REST_21632747_ChIP-Seq_MESCs_Mouse	2.06316316
13	MTF2_20144788_ChIP-Seq_MESCs_Mouse	2.05783815
14	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	2.03604004
15	JARID2_20075857_ChIP-Seq_MESCs_Mouse	2.02314502
16	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.99725712
17	RNF2_27304074_Chip-Seq_ESCs_Mouse	1.96799900
18	TAF15_26573619_Chip-Seq_HEK293_Human	1.93108641
19	REST_18959480_ChIP-ChIP_MESCs_Mouse	1.89091946
20	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.88202093
21	SUZ12_27294783_Chip-Seq_ESCs_Mouse	1.85056948
22	DROSHA_22980978_ChIP-Seq_HELA_Human	1.84029861
23	RNF2_18974828_ChIP-Seq_MESCs_Mouse	1.83003368
24	EZH2_18974828_ChIP-Seq_MESCs_Mouse	1.83003368
25	BCAT_22108803_ChIP-Seq_LS180_Human	1.82041920
26	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.81908896
27	FOXP3_17237761_ChIP-ChIP_TREG_Mouse	1.80231134
28	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.79137309
29	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.69284830
30	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.68907137
31	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.67992573
32	RNF2_27304074_Chip-Seq_NSC_Mouse	1.66775972
33	SMAD_19615063_ChIP-ChIP_OVARY_Human	1.63171605
34	EP300_21415370_ChIP-Seq_HL-1_Mouse	1.56943464
35	RXR_22108803_ChIP-Seq_LS180_Human	1.48459027
36	CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human	1.47213408
37	RARB_27405468_Chip-Seq_BRAIN_Mouse	1.44798806
38	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.42481050
39	CDX2_19796622_ChIP-Seq_MESCs_Mouse	1.37177118
40	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.35840058
41	STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse	1.35706009
42	SMAD4_21799915_ChIP-Seq_A2780_Human	1.34452020
43	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.32558972
44	ELK4_26923725_Chip-Seq_MESODERM_Mouse	1.28448048
45	SOX2_21211035_ChIP-Seq_LN229_Gbm	1.28247376
46	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.27369186
47	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	1.27096706
48	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.26607242
49	KDM2B_26808549_Chip-Seq_REH_Human	1.26315960
50	P300_19829295_ChIP-Seq_ESCs_Human	1.25130225
51	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.22685634
52	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.22229124
53	RUNX_20019798_ChIP-Seq_JUKART_Human	1.20866008
54	NR3C1_23031785_ChIP-Seq_PC12_Mouse	1.20477778
55	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.19849686
56	IGF1R_20145208_ChIP-Seq_DFB_Human	1.18870447
57	TCF4_23295773_ChIP-Seq_U87_Human	1.18759475
58	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	1.18255918
59	P53_22127205_ChIP-Seq_FIBROBLAST_Human	1.15751781
60	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.14239016
61	RING1B_27294783_Chip-Seq_ESCs_Mouse	1.13599222
62	STAT6_20620947_ChIP-Seq_CD4_POS_T_Human	1.13553619
63	TCF4_18268006_ChIP-ChIP_LS174T_Human	1.13457622
64	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.13247040
65	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.13247040
66	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.12143208
67	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.11630665
68	STAT3_23295773_ChIP-Seq_U87_Human	1.09192674
69	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.08457041
70	AR_21572438_ChIP-Seq_LNCaP_Human	1.07983306
71	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.06519797
72	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.06191147
73	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.05075868
74	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.03928432
75	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.03632086
76	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.02809296
77	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.02131662
78	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	1.01556993
79	SOX9_26525672_Chip-Seq_HEART_Mouse	1.01078471
80	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.01003182
81	PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse	1.00460891
82	AR_25329375_ChIP-Seq_VCAP_Human	1.00287978
83	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	0.99362186
84	WT1_25993318_ChIP-Seq_PODOCYTE_Human	0.99062435
85	NANOG_18555785_Chip-Seq_ESCs_Mouse	0.98994748
86	NFE2_27457419_Chip-Seq_LIVER_Mouse	0.98968207
87	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	0.97383530
88	PHC1_16625203_ChIP-ChIP_MESCs_Mouse	0.96474192
89	ER_23166858_ChIP-Seq_MCF-7_Human	0.95499652
90	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	0.95186610
91	RCOR2_21632747_ChIP-Seq_MESCs_Mouse	0.95176024
92	EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	0.95004657
93	EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse	0.94413464
94	ESR1_22446102_ChIP-Seq_UTERUS_Mouse	0.91854120
95	SMAD4_21741376_ChIP-Seq_HESCs_Human	0.91393067
96	P53_22387025_ChIP-Seq_ESCs_Mouse	0.89270637
97	NR3C1_21868756_ChIP-Seq_MCF10A_Human	0.89171199
98	CEBPB_26923725_Chip-Seq_MESODERM_Mouse	0.88765125
99	KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse	0.88610369
100	RCOR3_21632747_ChIP-Seq_MESCs_Mouse	0.88451279

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0004859_abnormal_synaptic_plasticity	4.21123054
2	MP0004270_analgesia	3.57648867
3	MP0003880_abnormal_central_pattern	3.46723343
4	MP0000751_myopathy	3.28797333
5	MP0003635_abnormal_synaptic_transmissio	2.70782819
6	MP0005423_abnormal_somatic_nervous	2.69620973
7	MP0001486_abnormal_startle_reflex	2.60077379
8	MP0004145_abnormal_muscle_electrophysio	2.42322911
9	MP0009745_abnormal_behavioral_response	2.41541378
10	MP0002064_seizures	2.30936590
11	MP0001346_abnormal_lacrimal_gland	2.23907377
12	MP0003122_maternal_imprinting	2.23484046
13	MP0002063_abnormal_learning/memory/cond	2.19231098
14	MP0002837_dystrophic_cardiac_calcinosis	2.12881974
15	MP0003787_abnormal_imprinting	2.11548253
16	MP0002272_abnormal_nervous_system	2.11542913
17	MP0001661_extended_life_span	2.11146489
18	MP0005646_abnormal_pituitary_gland	2.07488451
19	MP0009046_muscle_twitch	2.04293236
20	MP0003283_abnormal_digestive_organ	1.96960278
21	MP0004510_myositis	1.95493690
22	MP0002572_abnormal_emotion/affect_behav	1.93571084
23	MP0003879_abnormal_hair_cell	1.86796477
24	MP0008569_lethality_at_weaning	1.85233854
25	MP0001968_abnormal_touch/_nociception	1.81901721
26	MP0004215_abnormal_myocardial_fiber	1.81359670
27	MP0002163_abnormal_gland_morphology	1.74429066
28	MP0002734_abnormal_mechanical_nocicepti	1.72000951
29	MP0000778_abnormal_nervous_system	1.68802525
30	MP0006276_abnormal_autonomic_nervous	1.64435299
31	MP0004924_abnormal_behavior	1.63562262
32	MP0005386_behavior/neurological_phenoty	1.63562262
33	MP0001986_abnormal_taste_sensitivity	1.60784391
34	MP0000749_muscle_degeneration	1.60317008
35	MP0004036_abnormal_muscle_relaxation	1.59695663
36	MP0002735_abnormal_chemical_nociception	1.58335363
37	MP0001348_abnormal_lacrimal_gland	1.56572025
38	MP0004130_abnormal_muscle_cell	1.55733085
39	MP0004142_abnormal_muscle_tone	1.54391034
40	MP0003646_muscle_fatigue	1.54351353
41	MP0003137_abnormal_impulse_conducting	1.49256693
42	MP0001502_abnormal_circadian_rhythm	1.49241872
43	MP0003123_paternal_imprinting	1.45833555
44	MP0000747_muscle_weakness	1.44537657
45	MP0002822_catalepsy	1.43493155
46	MP0002067_abnormal_sensory_capabilities	1.41088225
47	MP0002106_abnormal_muscle_physiology	1.40819331
48	MP0002332_abnormal_exercise_endurance	1.37218305
49	MP0003690_abnormal_glial_cell	1.36708972
50	MP0001501_abnormal_sleep_pattern	1.35368382
51	MP0003950_abnormal_plasma_membrane	1.31884004
52	MP0002269_muscular_atrophy	1.31213858
53	MP0010030_abnormal_orbit_morphology	1.26308550
54	MP0005551_abnormal_eye_electrophysiolog	1.23370623
55	MP0008877_abnormal_DNA_methylation	1.19705113
56	MP0001963_abnormal_hearing_physiology	1.19203014
57	MP0002882_abnormal_neuron_morphology	1.19118801
58	MP0002909_abnormal_adrenal_gland	1.17694612
59	MP0002066_abnormal_motor_capabilities/c	1.16236636
60	MP0005369_muscle_phenotype	1.15348991
61	MP0000750_abnormal_muscle_regeneration	1.13600738
62	MP0004087_abnormal_muscle_fiber	1.10736477
63	MP0004885_abnormal_endolymph	1.10342745
64	MP0001970_abnormal_pain_threshold	1.09661871
65	MP0002733_abnormal_thermal_nociception	1.06982166
66	MP0003045_fibrosis	1.06413201
67	MP0002557_abnormal_social/conspecific_i	1.06149237
68	MP0002638_abnormal_pupillary_reflex	1.04140639
69	MP0005330_cardiomyopathy	1.03548607
70	MP0001440_abnormal_grooming_behavior	1.00439788
71	MP0000759_abnormal_skeletal_muscle	1.00043295
72	MP0004085_abnormal_heartbeat	0.99492193
73	MP0005379_endocrine/exocrine_gland_phen	0.98809407
74	MP0004084_abnormal_cardiac_muscle	0.96783461
75	MP0001727_abnormal_embryo_implantation	0.95174399
76	MP0002184_abnormal_innervation	0.92922538
77	MP0002229_neurodegeneration	0.92860503
78	MP0005253_abnormal_eye_physiology	0.91130791
79	MP0000026_abnormal_inner_ear	0.90120896
80	MP0002736_abnormal_nociception_after	0.89349174
81	MP0000920_abnormal_myelination	0.88963729
82	MP0003633_abnormal_nervous_system	0.88569028
83	MP0000631_abnormal_neuroendocrine_gland	0.87329018
84	MP0004043_abnormal_pH_regulation	0.86087547
85	MP0005535_abnormal_body_temperature	0.85006904
86	MP0004811_abnormal_neuron_physiology	0.82811446
87	MP0005623_abnormal_meninges_morphology	0.81508679
88	MP0005620_abnormal_muscle_contractility	0.81239299
89	MP0000955_abnormal_spinal_cord	0.80425277
90	MP0002752_abnormal_somatic_nervous	0.78983559
91	MP0002127_abnormal_cardiovascular_syste	0.77820011
92	MP0005167_abnormal_blood-brain_barrier	0.76936449
93	MP0006082_CNS_inflammation	0.75614156
94	MP0003938_abnormal_ear_development	0.74131049
95	MP0005645_abnormal_hypothalamus_physiol	0.73500961
96	MP0008872_abnormal_physiological_respon	0.70236942
97	MP0003329_amyloid_beta_deposits	0.65883291
98	MP0003631_nervous_system_phenotype	0.65707305
99	MP0002234_abnormal_pharynx_morphology	0.65034563
100	MP0001177_atelectasis	0.63939415

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Focal motor seizures (HP:0011153)	5.05237893
2	Febrile seizures (HP:0002373)	4.77360743
3	Limb dystonia (HP:0002451)	4.53810504
4	Menstrual irregularities (HP:0000858)	4.28526404
5	Focal seizures (HP:0007359)	4.12623217
6	Renal cortical cysts (HP:0000803)	3.87724770
7	Hemiplegia (HP:0002301)	3.63411850
8	Tongue fasciculations (HP:0001308)	3.43040102
9	Renovascular hypertension (HP:0100817)	3.42328121
10	Muscle fibrillation (HP:0010546)	3.29627785
11	Insomnia (HP:0100785)	3.27186465
12	Primary atrial arrhythmia (HP:0001692)	3.21275352
13	Atonic seizures (HP:0010819)	3.16514422
14	Dialeptic seizures (HP:0011146)	3.16499668
15	Overriding aorta (HP:0002623)	3.11369536
16	Atrial fibrillation (HP:0005110)	3.09789058
17	Tetraplegia (HP:0002445)	3.09639899
18	Sudden death (HP:0001699)	3.07612576
19	Absence seizures (HP:0002121)	3.07175427
20	Elfin facies (HP:0004428)	3.00644220
21	Supraventricular tachycardia (HP:0004755)	3.00484152
22	Supraventricular arrhythmia (HP:0005115)	2.90503498
23	Megalocornea (HP:0000485)	2.88753840
24	Hypoproteinemia (HP:0003075)	2.86584853
25	Syncope (HP:0001279)	2.85406066
26	Cerebral hypomyelination (HP:0006808)	2.83070860
27	Bundle branch block (HP:0011710)	2.81203453
28	Flat cornea (HP:0007720)	2.80613069
29	Muscle fiber splitting (HP:0003555)	2.79985805
30	Generalized tonic-clonic seizures (HP:0002069)	2.69066846
31	Hyperacusis (HP:0010780)	2.65847438
32	Ankle clonus (HP:0011448)	2.59999568
33	Ventricular arrhythmia (HP:0004308)	2.58819003
34	EMG: myopathic abnormalities (HP:0003458)	2.57382342
35	Proximal amyotrophy (HP:0007126)	2.51632425
36	Difficulty running (HP:0009046)	2.50819530
37	Depressed nasal tip (HP:0000437)	2.47436380
38	Cystic hygroma (HP:0000476)	2.46716001
39	Impaired smooth pursuit (HP:0007772)	2.45882356
40	Myokymia (HP:0002411)	2.45754820
41	Abnormal EKG (HP:0003115)	2.45521708
42	Abnormality of the calf musculature (HP:0001430)	2.45323500
43	Calf muscle hypertrophy (HP:0008981)	2.43965712
44	Muscle hypertrophy of the lower extremities (HP:0008968)	2.40740930
45	Muscle fiber inclusion bodies (HP:0100299)	2.40133915
46	Prolonged QT interval (HP:0001657)	2.36779495
47	Neurofibrillary tangles (HP:0002185)	2.34501618
48	Asymmetric septal hypertrophy (HP:0001670)	2.33328740
49	Diplopia (HP:0000651)	2.33243666
50	Abnormality of binocular vision (HP:0011514)	2.33243666
51	Gowers sign (HP:0003391)	2.32939296
52	Mildly elevated creatine phosphokinase (HP:0008180)	2.31877769
53	Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)	2.28362103
54	Supranuclear gaze palsy (HP:0000605)	2.26258314
55	Nemaline bodies (HP:0003798)	2.24495181
56	Fetal akinesia sequence (HP:0001989)	2.21426683
57	Type 1 muscle fiber predominance (HP:0003803)	2.19885409
58	Waddling gait (HP:0002515)	2.18508319
59	Athetosis (HP:0002305)	2.16441533
60	Abnormality of the neuromuscular junction (HP:0003398)	2.16071816
61	Fatigable weakness (HP:0003473)	2.16071816
62	Hemiparesis (HP:0001269)	2.15414273
63	Neoplasm of the heart (HP:0100544)	2.15223795
64	Pheochromocytoma (HP:0002666)	2.15196597
65	Degeneration of the lateral corticospinal tracts (HP:0002314)	2.14478751
66	Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)	2.14478751
67	Urinary urgency (HP:0000012)	2.11173077
68	Spastic tetraplegia (HP:0002510)	2.11129732
69	Lower limb muscle weakness (HP:0007340)	2.10204041
70	Abnormality of the corticospinal tract (HP:0002492)	2.09705171
71	Abnormality of the periventricular white matter (HP:0002518)	2.09162879
72	Ventricular fibrillation (HP:0001663)	2.08174922
73	Hyporeflexia of lower limbs (HP:0002600)	2.07675920
74	Spastic gait (HP:0002064)	2.03249667
75	Abnormal eating behavior (HP:0100738)	2.03016254
76	Exercise-induced muscle cramps (HP:0003710)	1.99218051
77	Action tremor (HP:0002345)	1.98398485
78	Epileptic encephalopathy (HP:0200134)	1.97465089
79	Torticollis (HP:0000473)	1.94274783
80	Renal duplication (HP:0000075)	1.94249526
81	Frequent falls (HP:0002359)	1.94211639
82	Decreased activity of mitochondrial respiratory chain (HP:0008972)	1.93701212
83	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	1.93701212
84	Agitation (HP:0000713)	1.93418653
85	Urinary bladder sphincter dysfunction (HP:0002839)	1.92989618
86	Cerebellar dysplasia (HP:0007033)	1.89624850
87	Bowel diverticulosis (HP:0005222)	1.88984204
88	Rimmed vacuoles (HP:0003805)	1.88341201
89	Hyperventilation (HP:0002883)	1.87717328
90	Deep palmar crease (HP:0006191)	1.87711333
91	Heart block (HP:0012722)	1.87490708
92	Sacral dimple (HP:0000960)	1.85862140
93	Broad-based gait (HP:0002136)	1.84438303
94	Delusions (HP:0000746)	1.84228671
95	Abnormality of the diencephalon (HP:0010662)	1.83647084
96	Clonus (HP:0002169)	1.83083973
97	Focal dystonia (HP:0004373)	1.82328473
98	Abnormality of the renal cortex (HP:0011035)	1.82097388
99	Impaired vibration sensation in the lower limbs (HP:0002166)	1.80817080
100	Dilated cardiomyopathy (HP:0001644)	1.80466020

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	MUSK	7.08718726
2	MARK1	4.53373828
3	NTRK3	4.16963360
4	PBK	3.34026504
5	EPHA4	2.74416700
6	UHMK1	2.71300380
7	MAP3K4	2.59374852
8	EPHA3	2.33333338
9	OBSCN	2.21793626
10	BMPR2	1.92068198
11	PAK6	1.90691452
12	TIE1	1.81680129
13	MAPKAPK3	1.81585831
14	RIPK1	1.73709083
15	GRK7	1.69384746
16	PAK3	1.65044537
17	STK16	1.47956117
18	IKBKE	1.45441337
19	TRIM28	1.41133609
20	PHKG2	1.40866996
21	PHKG1	1.40866996
22	LIMK1	1.38460316
23	TLK1	1.33703375
24	SIK2	1.27215770
25	TESK1	1.25349400
26	CAMKK2	1.24926053
27	SGK494	1.24572537
28	SGK223	1.24572537
29	NTRK2	1.23611590
30	TXK	1.18787437
31	DAPK2	1.18348273
32	MAPK13	1.06876359
33	BLK	1.03300327
34	CAMK1	0.95407059
35	ERBB3	0.93210509
36	PINK1	0.92297612
37	MINK1	0.91065663
38	NTRK1	0.88697948
39	CDK5	0.87755224
40	CAMK2A	0.86940062
41	FES	0.80178547
42	PLK2	0.79964577
43	CAMKK1	0.79649364
44	MAPK12	0.78720275
45	SGK2	0.78398832
46	CAMK2B	0.73680811
47	BRD4	0.69922681
48	PRKCQ	0.68060288
49	PKN1	0.64084424
50	CAMK2D	0.63636652
51	MAP3K6	0.63603196
52	MAP2K6	0.63582292
53	MAPK15	0.59639980
54	PRKCG	0.59184580
55	STK11	0.55206313
56	ADRBK2	0.55070188
57	CAMK4	0.54171908
58	MAPK4	0.53831868
59	CASK	0.49545940
60	MAPK7	0.49001819
61	MARK2	0.47917060
62	DAPK1	0.47892968
63	DYRK1A	0.47782623
64	ERBB2	0.47654970
65	SGK1	0.47321834
66	MAP3K9	0.47301762
67	TTN	0.47268772
68	ITK	0.46725375
69	CAMK2G	0.44672261
70	STK38	0.44061693
71	NEK6	0.42710212
72	LATS2	0.42306077
73	WNK3	0.42128695
74	CDK18	0.40767891
75	TESK2	0.39616297
76	ROCK2	0.39001945
77	CDK15	0.38041094
78	CDK11A	0.37490276
79	RPS6KA3	0.36381087
80	TAOK1	0.36102560
81	PRKCE	0.35180542
82	LCK	0.34958492
83	MAP2K7	0.34399755
84	ROCK1	0.34306520
85	PRKACA	0.33752536
86	MAP4K2	0.32898758
87	CDK19	0.32457520
88	LMTK2	0.31996258
89	MAP2K4	0.31312205
90	PRKCA	0.30063201
91	SGK3	0.29622255
92	CDK14	0.29306069
93	TNK2	0.29288816
94	DMPK	0.29142490
95	KSR1	0.28453706
96	ABL1	0.28095047
97	OXSR1	0.27337582
98	MAPK10	0.26756609
99	CDK9	0.26723167
100	LRRK2	0.26530410

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Nicotine addiction_Homo sapiens_hsa05033	4.06666371
2	Morphine addiction_Homo sapiens_hsa05032	2.78780372
3	Amphetamine addiction_Homo sapiens_hsa05031	2.48641622
4	Circadian entrainment_Homo sapiens_hsa04713	2.45655208
5	GABAergic synapse_Homo sapiens_hsa04727	2.31765083
6	Synaptic vesicle cycle_Homo sapiens_hsa04721	2.30951603
7	Glutamatergic synapse_Homo sapiens_hsa04724	2.29428709
8	Dilated cardiomyopathy_Homo sapiens_hsa05414	2.29100432
9	Long-term potentiation_Homo sapiens_hsa04720	2.24116442
10	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	2.12759181
11	Cocaine addiction_Homo sapiens_hsa05030	2.09539977
12	Calcium signaling pathway_Homo sapiens_hsa04020	1.83371481
13	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	1.82564472
14	Natural killer cell mediated cytotoxicity_Homo sapiens_hsa04650	1.77505899
15	Insulin secretion_Homo sapiens_hsa04911	1.73902971
16	Cardiac muscle contraction_Homo sapiens_hsa04260	1.73655727
17	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	1.69905092
18	Dopaminergic synapse_Homo sapiens_hsa04728	1.68077666
19	Renin secretion_Homo sapiens_hsa04924	1.65652531
20	Cholinergic synapse_Homo sapiens_hsa04725	1.61351527
21	cAMP signaling pathway_Homo sapiens_hsa04024	1.60843654
22	Gastric acid secretion_Homo sapiens_hsa04971	1.56949316
23	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.56198349
24	Oxytocin signaling pathway_Homo sapiens_hsa04921	1.45862837
25	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	1.45658640
26	Graft-versus-host disease_Homo sapiens_hsa05332	1.42853887
27	Dorso-ventral axis formation_Homo sapiens_hsa04320	1.39897021
28	Gap junction_Homo sapiens_hsa04540	1.28219808
29	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.28167444
30	Salivary secretion_Homo sapiens_hsa04970	1.28116531
31	Phototransduction_Homo sapiens_hsa04744	1.27678118
32	Axon guidance_Homo sapiens_hsa04360	1.27084520
33	Taste transduction_Homo sapiens_hsa04742	1.25450245
34	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	1.25332559
35	Olfactory transduction_Homo sapiens_hsa04740	1.21987547
36	Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750	1.19944431
37	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	1.19885758
38	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	1.15512505
39	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	1.10183553
40	Vascular smooth muscle contraction_Homo sapiens_hsa04270	1.10020726
41	Serotonergic synapse_Homo sapiens_hsa04726	1.05427389
42	Collecting duct acid secretion_Homo sapiens_hsa04966	1.04571307
43	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	1.03353992
44	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.01603111
45	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.98534436
46	Inositol phosphate metabolism_Homo sapiens_hsa00562	0.92358914
47	Pancreatic secretion_Homo sapiens_hsa04972	0.90742673
48	Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014	0.90265903
49	MAPK signaling pathway_Homo sapiens_hsa04010	0.79654782
50	Long-term depression_Homo sapiens_hsa04730	0.75631549
51	GnRH signaling pathway_Homo sapiens_hsa04912	0.73734410
52	Arginine and proline metabolism_Homo sapiens_hsa00330	0.70728777
53	Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923	0.70599327
54	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.70588893
55	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.69599508
56	Estrogen signaling pathway_Homo sapiens_hsa04915	0.68662653
57	ErbB signaling pathway_Homo sapiens_hsa04012	0.67132290
58	Thyroid hormone synthesis_Homo sapiens_hsa04918	0.64943426
59	Circadian rhythm_Homo sapiens_hsa04710	0.63739647
60	Phospholipase D signaling pathway_Homo sapiens_hsa04072	0.63064267
61	Ras signaling pathway_Homo sapiens_hsa04014	0.62555368
62	Oocyte meiosis_Homo sapiens_hsa04114	0.62004597
63	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.59317152
64	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.57587146
65	Neurotrophin signaling pathway_Homo sapiens_hsa04722	0.56898949
66	T cell receptor signaling pathway_Homo sapiens_hsa04660	0.56688628
67	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.56430283
68	Chemokine signaling pathway_Homo sapiens_hsa04062	0.56057825
69	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.53909855
70	Viral myocarditis_Homo sapiens_hsa05416	0.53661458
71	Vibrio cholerae infection_Homo sapiens_hsa05110	0.50180929
72	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	0.48769773
73	Glycosaminoglycan degradation_Homo sapiens_hsa00531	0.48148259
74	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.47219098
75	Malaria_Homo sapiens_hsa05144	0.46333799
76	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.46298245
77	Protein digestion and absorption_Homo sapiens_hsa04974	0.45777725
78	Insulin signaling pathway_Homo sapiens_hsa04910	0.43493898
79	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	0.43179296
80	Choline metabolism in cancer_Homo sapiens_hsa05231	0.42910578
81	Melanogenesis_Homo sapiens_hsa04916	0.42753123
82	Bile secretion_Homo sapiens_hsa04976	0.42298300
83	Bacterial invasion of epithelial cells_Homo sapiens_hsa05100	0.42217391
84	Endocytosis_Homo sapiens_hsa04144	0.41134326
85	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	0.40374224
86	Glucagon signaling pathway_Homo sapiens_hsa04922	0.37915499
87	Insulin resistance_Homo sapiens_hsa04931	0.36499735
88	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.36274364
89	Alzheimers disease_Homo sapiens_hsa05010	0.35224393
90	Longevity regulating pathway - mammal_Homo sapiens_hsa04211	0.34579626
91	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.33493681
92	Alcoholism_Homo sapiens_hsa05034	0.33223225
93	Focal adhesion_Homo sapiens_hsa04510	0.30998055
94	Adipocytokine signaling pathway_Homo sapiens_hsa04920	0.30899583
95	Glioma_Homo sapiens_hsa05214	0.26835675
96	Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666	0.26753509
97	Regulation of autophagy_Homo sapiens_hsa04140	0.26398837
98	Regulation of actin cytoskeleton_Homo sapiens_hsa04810	0.24860620
99	Nitrogen metabolism_Homo sapiens_hsa00910	0.24505661
100	Histidine metabolism_Homo sapiens_hsa00340	0.24382440

PKMP3

Functional Annotation Prediction

Predicted biological processes (GO)

Predicted upstream transcription factors (ChEA)

Predicted mouse phenotypes (MGI)

Predicted human phenotypes

Predicted kinase interactions (KEA)

Predicted pathways (KEGG)

Most similar genes based on co-expression Upload to Enrichr

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