ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	muscle filament sliding (GO:0030049)	6.50161232
2	actin-myosin filament sliding (GO:0033275)	6.50161232
3	response to muscle activity (GO:0014850)	6.23114507
4	myofibril assembly (GO:0030239)	6.07109571
5	actin-mediated cell contraction (GO:0070252)	5.63626081
6	sarcomere organization (GO:0045214)	5.18797826
7	acrosome reaction (GO:0007340)	5.07697681
8	cardiac myofibril assembly (GO:0055003)	4.73624473
9	regulation of skeletal muscle contraction (GO:0014819)	4.48845671
10	positive regulation of catecholamine secretion (GO:0033605)	4.41191866
11	coenzyme catabolic process (GO:0009109)	4.39649926
12	actin filament-based movement (GO:0030048)	4.39344576
13	multicellular organism reproduction (GO:0032504)	4.38745721
14	positive regulation of synaptic transmission, dopaminergic (GO:0032226)	4.29303771
15	negative regulation of cardiac muscle cell apoptotic process (GO:0010667)	4.11926932
16	positive regulation of protein kinase C signaling (GO:0090037)	4.05901129
17	sarcoplasmic reticulum calcium ion transport (GO:0070296)	4.01580972
18	positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)	4.00754772
19	skeletal muscle contraction (GO:0003009)	3.98171073
20	regulation of phosphoprotein phosphatase activity (GO:0043666)	3.96160051
21	cardiac muscle hypertrophy (GO:0003300)	3.92139301
22	peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	3.83799113
23	regulation of relaxation of muscle (GO:1901077)	3.79147006
24	actomyosin structure organization (GO:0031032)	3.76847116
25	muscle cell cellular homeostasis (GO:0046716)	3.76680239
26	muscle contraction (GO:0006936)	3.76004091
27	kidney mesenchyme development (GO:0072074)	3.71752068
28	striated muscle hypertrophy (GO:0014897)	3.71373662
29	fusion of sperm to egg plasma membrane (GO:0007342)	3.66920699
30	regulation of myoblast differentiation (GO:0045661)	3.64735520
31	motile cilium assembly (GO:0044458)	3.59614656
32	barbed-end actin filament capping (GO:0051016)	3.58362728
33	muscle system process (GO:0003012)	3.51389093
34	cGMP-mediated signaling (GO:0019934)	3.48753066
35	sperm motility (GO:0030317)	3.46810313
36	positive regulation of myotube differentiation (GO:0010831)	3.46545178
37	striated muscle contraction (GO:0006941)	3.43866378
38	reproduction (GO:0000003)	3.42123248
39	binding of sperm to zona pellucida (GO:0007339)	3.41905325
40	cell migration involved in heart development (GO:0060973)	3.40867127
41	AMP metabolic process (GO:0046033)	3.35423323
42	muscle cell fate commitment (GO:0042693)	3.34059569
43	activation of protein kinase B activity (GO:0032148)	3.28753535
44	cartilage development involved in endochondral bone morphogenesis (GO:0060351)	3.26979612
45	regulation of skeletal muscle fiber development (GO:0048742)	3.26316199
46	cell-substrate adherens junction assembly (GO:0007045)	3.25540864
47	focal adhesion assembly (GO:0048041)	3.25540864
48	muscle hypertrophy (GO:0014896)	3.25099501
49	dermatan sulfate biosynthetic process (GO:0030208)	3.22734003
50	plasma membrane repair (GO:0001778)	3.19944822
51	metanephric mesenchyme development (GO:0072075)	3.17595575
52	muscle fiber development (GO:0048747)	3.15297219
53	response to stimulus involved in regulation of muscle adaptation (GO:0014874)	3.15232704
54	chromosome condensation (GO:0030261)	3.13055504
55	regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	3.12590067
56	dermatan sulfate metabolic process (GO:0030205)	3.10380394
57	sperm-egg recognition (GO:0035036)	3.08886382
58	sperm capacitation (GO:0048240)	3.08729301
59	regulation of ARF GTPase activity (GO:0032312)	3.05406761
60	plasma membrane fusion (GO:0045026)	3.03624332
61	cardiac muscle hypertrophy in response to stress (GO:0014898)	3.03593723
62	muscle hypertrophy in response to stress (GO:0003299)	3.03593723
63	cardiac muscle adaptation (GO:0014887)	3.03593723
64	regulation of myotube differentiation (GO:0010830)	3.02087324
65	skeletal muscle fiber development (GO:0048741)	2.99184104
66	negative regulation of homotypic cell-cell adhesion (GO:0034111)	2.98150183
67	cell volume homeostasis (GO:0006884)	2.96963196
68	response to inactivity (GO:0014854)	2.96412224
69	adult heart development (GO:0007512)	2.95322264
70	regulation of protein kinase C signaling (GO:0090036)	2.95090764
71	muscle organ development (GO:0007517)	2.92326058
72	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO	2.91650571
73	retina vasculature morphogenesis in camera-type eye (GO:0061299)	2.90970469
74	cellular response to epinephrine stimulus (GO:0071872)	2.89583053
75	cardiac muscle contraction (GO:0060048)	2.89088677
76	protein heterotrimerization (GO:0070208)	2.87963497
77	ADP metabolic process (GO:0046031)	2.87521549
78	muscle structure development (GO:0061061)	2.85223383
79	adherens junction assembly (GO:0034333)	2.84569935
80	cell-substrate junction assembly (GO:0007044)	2.80622758
81	single fertilization (GO:0007338)	2.80467417
82	insulin-like growth factor receptor signaling pathway (GO:0048009)	2.80131721
83	regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)	2.79336237
84	cranial nerve morphogenesis (GO:0021602)	2.79176295
85	negative regulation of striated muscle cell apoptotic process (GO:0010664)	2.79045190
86	mannose metabolic process (GO:0006013)	2.78561531
87	striated muscle adaptation (GO:0014888)	2.78228400
88	relaxation of smooth muscle (GO:0044557)	2.72274713
89	cell-cell recognition (GO:0009988)	2.71265017
90	regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)	2.71079389
91	DNA packaging (GO:0006323)	2.71052090
92	regulation of phospholipase A2 activity (GO:0032429)	2.70258449
93	regulation of oxidative stress-induced neuron death (GO:1903203)	2.68676260
94	collagen fibril organization (GO:0030199)	2.67036446
95	myotube cell development (GO:0014904)	2.64844568
96	spermatid development (GO:0007286)	2.64778908
97	vascular endothelial growth factor signaling pathway (GO:0038084)	2.64641264
98	negative regulation of inclusion body assembly (GO:0090084)	2.64306848
99	stress fiber assembly (GO:0043149)	2.63963321
100	regulation of the force of heart contraction (GO:0002026)	2.62009850

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	BP1_19119308_ChIP-ChIP_Hs578T_Human	5.05867715
2	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	4.33155103
3	RARG_19884340_ChIP-ChIP_MEFs_Mouse	3.17824439
4	LXR_22292898_ChIP-Seq_THP-1_Human	2.45035906
5	MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human	2.39847271
6	EZH2_22144423_ChIP-Seq_EOC_Human	2.34030080
7	ESR1_20079471_ChIP-ChIP_T-47D_Human	2.10412245
8	TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	2.04933469
9	THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse	2.02115289
10	TBX20_22080862_ChIP-Seq_HEART_Mouse	1.96859116
11	TBX20_22328084_ChIP-Seq_HEART_Mouse	1.96859116
12	CTCF_27219007_Chip-Seq_Bcells_Human	1.92951413
13	SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	1.92368340
14	KDM2B_26808549_Chip-Seq_SUP-B15_Human	1.86948283
15	DROSHA_22980978_ChIP-Seq_HELA_Human	1.74747902
16	KDM2B_26808549_Chip-Seq_DND41_Human	1.69949015
17	SMC4_20622854_ChIP-Seq_HELA_Human	1.69489998
18	RUNX2_24764292_ChIP-Seq_MC3T3_Mouse	1.66157691
19	ELK3_25401928_ChIP-Seq_HUVEC_Human	1.63951591
20	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.61359957
21	VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human	1.61055950
22	PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse	1.60036455
23	EP300_21415370_ChIP-Seq_HL-1_Mouse	1.59979307
24	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.58356014
25	TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.55932566
26	TFAP2C_20629094_ChIP-Seq_MCF-7_Human	1.55764940
27	EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	1.54733357
28	ELF1_20517297_ChIP-Seq_JURKAT_Human	1.49543839
29	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	1.49319335
30	MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human	1.44523750
31	NFIB_24661679_ChIP-Seq_LUNG_Mouse	1.42913717
32	RNF2_18974828_ChIP-Seq_MESCs_Mouse	1.42431001
33	EZH2_18974828_ChIP-Seq_MESCs_Mouse	1.42431001
34	ESR1_22446102_ChIP-Seq_UTERUS_Mouse	1.40031745
35	EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse	1.39554977
36	P68_20966046_ChIP-Seq_HELA_Human	1.38613594
37	TP53_23651856_ChIP-Seq_MEFs_Mouse	1.37883421
38	TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.37597613
39	ESR2_21235772_ChIP-Seq_MCF-7_Human	1.36927191
40	CJUN_26792858_Chip-Seq_BT549_Human	1.36321903
41	TRIM28_21343339_ChIP-Seq_HEK293_Human	1.34921557
42	TP53_22127205_ChIP-Seq_IMR90_Human	1.34627012
43	TP63_22573176_ChIP-Seq_HFKS_Human	1.33876301
44	KDM2B_26808549_Chip-Seq_K562_Human	1.33772483
45	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.32015953
46	TP53_20018659_ChIP-ChIP_R1E_Mouse	1.30199552
47	RACK7_27058665_Chip-Seq_MCF-7_Human	1.29798735
48	VDR_21846776_ChIP-Seq_THP-1_Human	1.27760432
49	MTF2_20144788_ChIP-Seq_MESCs_Mouse	1.27716430
50	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.27322236
51	MEF2A_21415370_ChIP-Seq_HL-1_Mouse	1.26694827
52	VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human	1.26515617
53	KDM2B_26808549_Chip-Seq_SIL-ALL_Human	1.25727928
54	SMC3_22415368_ChIP-Seq_MEFs_Mouse	1.23850888
55	RAD21_21589869_ChIP-Seq_MESCs_Mouse	1.23775173
56	EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human	1.21873906
57	CTCF_21964334_Chip-Seq_Bcells_Human	1.20105796
58	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	1.19360962
59	ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.17212238
60	E2F1_20622854_ChIP-Seq_HELA_Human	1.16097106
61	CTCF_27219007_Chip-Seq_ERYTHROID_Human	1.15583645
62	SUZ12_18974828_ChIP-Seq_MESCs_Mouse	1.15551636
63	RAC3_21632823_ChIP-Seq_H3396_Human	1.13403032
64	SA1_27219007_Chip-Seq_ERYTHROID_Human	1.12405491
65	SUZ12_18692474_ChIP-Seq_MEFs_Mouse	1.11517803
66	WDR5_24793694_ChIP-Seq_LNCAP_Human	1.09313803
67	SOX9_24532713_ChIP-Seq_HFSC_Mouse	1.09056522
68	SMAD3_22036565_ChIP-Seq_ESCs_Mouse	1.08015679
69	JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	1.07218159
70	SMAD2/3_21741376_ChIP-Seq_ESCs_Human	1.07182785
71	BCL6_27268052_Chip-Seq_Bcells_Human	1.07036753
72	RUNX1_27514584_Chip-Seq_MCF-7_Human	1.06932763
73	SUZ12_27294783_Chip-Seq_ESCs_Mouse	1.05820894
74	VDR_24787735_ChIP-Seq_THP-1_Human	1.05534731
75	ARNT_22903824_ChIP-Seq_MCF-7_Human	1.05491459
76	UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human	1.05160341
77	UBF1/2_26484160_Chip-Seq_HMECs_Human	1.04782871
78	PHF8_20622854_ChIP-Seq_HELA_Human	1.04729944
79	RXR_22108803_ChIP-Seq_LS180_Human	1.04543981
80	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.04068504
81	SUZ12_20075857_ChIP-Seq_MESCs_Mouse	1.03854126
82	ERA_21632823_ChIP-Seq_H3396_Human	1.03710834
83	AR_21572438_ChIP-Seq_LNCaP_Human	1.02900035
84	BRD4_25478319_ChIP-Seq_HGPS_Human	1.01960380
85	BCOR_27268052_Chip-Seq_Bcells_Human	1.00142388
86	SPI1_20517297_ChIP-Seq_HL60_Human	0.98655690
87	P300_27058665_Chip-Seq_ZR-75-30cells_Human	0.98022611
88	CTCF_20526341_ChIP-Seq_ESCs_Human	0.97562306
89	JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	0.97204206
90	TET1_21490601_ChIP-Seq_MESCs_Mouse	0.96937454
91	CSB_26484114_Chip-Seq_FIBROBLAST_Human	0.96915660
92	OCT4_19829295_ChIP-Seq_ESCs_Human	0.96814011
93	CREB1_26743006_Chip-Seq_LNCaP-abl_Human	0.96249372
94	NANOG_20526341_ChIP-Seq_ESCs_Human	0.96028824
95	KDM2B_26808549_Chip-Seq_JURKAT_Human	0.95830832
96	PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse	0.95744406
97	TET1_21451524_ChIP-Seq_MESCs_Mouse	0.95544176
98	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	0.95463307
99	TFAP2A_17053090_ChIP-ChIP_MCF-7_Human	0.93291495
100	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	0.93014139

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0000749_muscle_degeneration	5.03497505
2	MP0000751_myopathy	4.36095858
3	MP0004084_abnormal_cardiac_muscle	4.31073134
4	MP0004036_abnormal_muscle_relaxation	3.80974277
5	MP0008438_abnormal_cutaneous_collagen	3.80647600
6	MP0005410_abnormal_fertilization	2.97935095
7	MP0010368_abnormal_lymphatic_system	2.85278590
8	MP0003646_muscle_fatigue	2.77737485
9	MP0004145_abnormal_muscle_electrophysio	2.69127147
10	MP0004272_abnormal_basement_membrane	2.68302774
11	MP0000759_abnormal_skeletal_muscle	2.66161755
12	MP0002837_dystrophic_cardiac_calcinosis	2.65865150
13	MP0004510_myositis	2.62928317
14	MP0005330_cardiomyopathy	2.60790577
15	MP0004087_abnormal_muscle_fiber	2.56153338
16	MP0005670_abnormal_white_adipose	2.49914089
17	MP0002269_muscular_atrophy	2.47663258
18	MP0002108_abnormal_muscle_morphology	2.42289470
19	MP0005620_abnormal_muscle_contractility	2.35975839
20	MP0000747_muscle_weakness	2.25094460
21	MP0005451_abnormal_body_composition	2.22623642
22	MP0003705_abnormal_hypodermis_morpholog	2.21276227
23	MP0000013_abnormal_adipose_tissue	2.20847628
24	MP0003279_aneurysm	2.12341860
25	MP0005623_abnormal_meninges_morphology	2.09863975
26	MP0005503_abnormal_tendon_morphology	2.08495376
27	MP0000733_abnormal_muscle_development	2.07055407
28	MP0005369_muscle_phenotype	1.94030675
29	MP0002106_abnormal_muscle_physiology	1.89837519
30	MP0005275_abnormal_skin_tensile	1.84871007
31	MP0002127_abnormal_cardiovascular_syste	1.82754511
32	MP0000750_abnormal_muscle_regeneration	1.79739029
33	MP0003091_abnormal_cell_migration	1.78605056
34	MP0004233_abnormal_muscle_weight	1.77744836
35	MP0006138_congestive_heart_failure	1.76787503
36	MP0004215_abnormal_myocardial_fiber	1.73720132
37	MP0002972_abnormal_cardiac_muscle	1.57511806
38	MP0001958_emphysema	1.54109462
39	MP0004484_altered_response_of	1.45059493
40	MP0000767_abnormal_smooth_muscle	1.42572775
41	MP0000003_abnormal_adipose_tissue	1.42566635
42	MP0004130_abnormal_muscle_cell	1.40426041
43	MP0010630_abnormal_cardiac_muscle	1.39271650
44	MP0003136_yellow_coat_color	1.39165076
45	MP0008004_abnormal_stomach_pH	1.36128438
46	MP0001544_abnormal_cardiovascular_syste	1.31527837
47	MP0005385_cardiovascular_system_phenoty	1.31527837
48	MP0005595_abnormal_vascular_smooth	1.30370052
49	MP0005409_darkened_coat_color	1.26720007
50	MP0002249_abnormal_larynx_morphology	1.24548394
51	MP0009840_abnormal_foam_cell	1.24324852
52	MP0003950_abnormal_plasma_membrane	1.22997559
53	MP0008775_abnormal_heart_ventricle	1.22774376
54	MP0003806_abnormal_nucleotide_metabolis	1.21053000
55	MP0003045_fibrosis	1.20828948
56	MP0003566_abnormal_cell_adhesion	1.19803118
57	MP0001849_ear_inflammation	1.15874539
58	MP0005058_abnormal_lysosome_morphology	1.13753687
59	MP0003828_pulmonary_edema	1.09513191
60	MP0002332_abnormal_exercise_endurance	1.07787797
61	MP0000343_altered_response_to	1.06892788
62	MP0001879_abnormal_lymphatic_vessel	1.06287209
63	MP0001661_extended_life_span	1.06179216
64	MP0005375_adipose_tissue_phenotype	1.05233808
65	MP0002132_abnormal_respiratory_system	1.04804673
66	MP0009780_abnormal_chondrocyte_physiolo	1.02823581
67	MP0009250_abnormal_appendicular_skeleto	0.98679316
68	MP0001299_abnormal_eye_distance/	0.98510993
69	MP0001348_abnormal_lacrimal_gland	0.96739704
70	MP0005257_abnormal_intraocular_pressure	0.87586717
71	MP0004085_abnormal_heartbeat	0.85226155
72	MP0010030_abnormal_orbit_morphology	0.85157432
73	MP0003385_abnormal_body_wall	0.84194369
74	MP0003879_abnormal_hair_cell	0.81243070
75	MP0002128_abnormal_blood_circulation	0.76182526
76	MP0002295_abnormal_pulmonary_circulatio	0.74523036
77	MP0000534_abnormal_ureter_morphology	0.74519110
78	MP0009697_abnormal_copulation	0.74414004
79	MP0000678_abnormal_parathyroid_gland	0.73845694
80	MP0005666_abnormal_adipose_tissue	0.73608513
81	MP0005165_increased_susceptibility_to	0.73393956
82	MP0001542_abnormal_bone_strength	0.72192595
83	MP0003698_abnormal_male_reproductive	0.71705793
84	MP0005508_abnormal_skeleton_morphology	0.71370776
85	MP0004134_abnormal_chest_morphology	0.64986515
86	MP0000266_abnormal_heart_morphology	0.64481572
87	MP0002998_abnormal_bone_remodeling	0.64261365
88	MP0003137_abnormal_impulse_conducting	0.64257808
89	MP0001614_abnormal_blood_vessel	0.60677009
90	MP0006036_abnormal_mitochondrial_physio	0.59974057
91	MP0005266_abnormal_metabolism	0.59893598
92	MP0002115_abnormal_skeleton_extremities	0.58950945
93	MP0009384_cardiac_valve_regurgitation	0.57815032
94	MP0002971_abnormal_brown_adipose	0.57105325
95	MP0002877_abnormal_melanocyte_morpholog	0.55660652
96	MP0000762_abnormal_tongue_morphology	0.55656659
97	MP0000230_abnormal_systemic_arterial	0.55023197
98	MP0001270_distended_abdomen	0.54920404
99	MP0002896_abnormal_bone_mineralization	0.54840662
100	MP0009115_abnormal_fat_cell	0.53914158

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Type 1 muscle fiber predominance (HP:0003803)	6.27921521
2	Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)	5.93968280
3	Muscle fiber inclusion bodies (HP:0100299)	5.92159157
4	Exercise-induced myalgia (HP:0003738)	5.37108062
5	Nemaline bodies (HP:0003798)	5.11189683
6	Hyporeflexia of lower limbs (HP:0002600)	5.10691350
7	Increased variability in muscle fiber diameter (HP:0003557)	4.79792254
8	Centrally nucleated skeletal muscle fibers (HP:0003687)	4.77018272
9	Premature rupture of membranes (HP:0001788)	4.76931666
10	Spinal rigidity (HP:0003306)	4.74773653
11	Abnormality of skeletal muscle fiber size (HP:0012084)	4.58380878
12	Abnormality of the calf musculature (HP:0001430)	4.52741339
13	Distal arthrogryposis (HP:0005684)	4.34136035
14	EMG: myopathic abnormalities (HP:0003458)	4.26399950
15	Muscle hypertrophy of the lower extremities (HP:0008968)	4.11091867
16	Calf muscle hypertrophy (HP:0008981)	3.98124933
17	Muscle fiber splitting (HP:0003555)	3.95587738
18	Asymmetric septal hypertrophy (HP:0001670)	3.87908074
19	Exercise-induced muscle cramps (HP:0003710)	3.87204320
20	Sudden death (HP:0001699)	3.85713908
21	Scapular winging (HP:0003691)	3.81374458
22	Aortic aneurysm (HP:0004942)	3.77618667
23	Neck muscle weakness (HP:0000467)	3.67634957
24	Round ear (HP:0100830)	3.65334258
25	Myopathic facies (HP:0002058)	3.58499375
26	Increased connective tissue (HP:0009025)	3.38338879
27	Mildly elevated creatine phosphokinase (HP:0008180)	3.13123208
28	Protrusio acetabuli (HP:0003179)	3.04666799
29	Myoglobinuria (HP:0002913)	3.01560288
30	Rhabdomyolysis (HP:0003201)	3.00657566
31	Resting tremor (HP:0002322)	2.99934173
32	Abnormality of the shoulder girdle musculature (HP:0001435)	2.97182263
33	Ulnar deviation of the wrist (HP:0003049)	2.90759244
34	Bulbar palsy (HP:0001283)	2.90712804
35	Distal lower limb muscle weakness (HP:0009053)	2.85528764
36	Rimmed vacuoles (HP:0003805)	2.84308047
37	Difficulty climbing stairs (HP:0003551)	2.80596197
38	Aortic dissection (HP:0002647)	2.77737903
39	Difficulty running (HP:0009046)	2.76169719
40	Distal lower limb amyotrophy (HP:0008944)	2.70266214
41	Lipoatrophy (HP:0100578)	2.66644032
42	Bundle branch block (HP:0011710)	2.61549946
43	Ventricular tachycardia (HP:0004756)	2.57057141
44	Calcaneovalgus deformity (HP:0001848)	2.51879092
45	Frequent falls (HP:0002359)	2.51234966
46	Malignant hyperthermia (HP:0002047)	2.50400944
47	Slender build (HP:0001533)	2.49939978
48	Muscular dystrophy (HP:0003560)	2.47115002
49	Right ventricular cardiomyopathy (HP:0011663)	2.44376082
50	Dilated cardiomyopathy (HP:0001644)	2.40393739
51	Muscle stiffness (HP:0003552)	2.38951428
52	Cerebral aneurysm (HP:0004944)	2.35526798
53	Generalized amyotrophy (HP:0003700)	2.33422083
54	Atrial fibrillation (HP:0005110)	2.33225397
55	Abnormality of the left ventricular outflow tract (HP:0011103)	2.31895314
56	Subaortic stenosis (HP:0001682)	2.31895314
57	Hypoplastic ischia (HP:0003175)	2.31602012
58	Limb-girdle muscle atrophy (HP:0003797)	2.31546576
59	Generalized muscle weakness (HP:0003324)	2.26482783
60	Deformed tarsal bones (HP:0008119)	2.23299490
61	Weak cry (HP:0001612)	2.20065046
62	Foot dorsiflexor weakness (HP:0009027)	2.17518244
63	Proximal amyotrophy (HP:0007126)	2.14978877
64	Abnormality of the columella (HP:0009929)	2.12842997
65	Abnormality of the foot musculature (HP:0001436)	2.12327259
66	Genu recurvatum (HP:0002816)	2.10189070
67	Myotonia (HP:0002486)	2.09250546
68	Clumsiness (HP:0002312)	2.08053253
69	Abnormality of the ischium (HP:0003174)	2.07250210
70	Primary atrial arrhythmia (HP:0001692)	2.04894437
71	Achilles tendon contracture (HP:0001771)	2.04730520
72	Elbow flexion contracture (HP:0002987)	2.04673733
73	Abnormal atrioventricular conduction (HP:0005150)	2.04226867
74	Hypoventilation (HP:0002791)	2.01853399
75	Easy fatigability (HP:0003388)	2.00335912
76	Supraventricular arrhythmia (HP:0005115)	2.00155009
77	Limb-girdle muscle weakness (HP:0003325)	1.99573271
78	Areflexia of lower limbs (HP:0002522)	1.98008284
79	Abnormality of dentin (HP:0010299)	1.97631845
80	Soft skin (HP:0000977)	1.97579215
81	Supraventricular tachycardia (HP:0004755)	1.97478825
82	Atrophic scars (HP:0001075)	1.96425991
83	Bladder diverticulum (HP:0000015)	1.96422261
84	Waddling gait (HP:0002515)	1.95592545
85	Ankle contracture (HP:0006466)	1.94004002
86	Hip contracture (HP:0003273)	1.90942614
87	Difficulty walking (HP:0002355)	1.90608167
88	Bell-shaped thorax (HP:0001591)	1.90146361
89	Heart block (HP:0012722)	1.87053792
90	Spondylolisthesis (HP:0003302)	1.86474173
91	Lower limb amyotrophy (HP:0007210)	1.84091151
92	Respiratory insufficiency due to muscle weakness (HP:0002747)	1.81955882
93	Aneurysm (HP:0002617)	1.81698355
94	Ulnar bowing (HP:0003031)	1.79851967
95	Ectopia lentis (HP:0001083)	1.78200291
96	EMG: neuropathic changes (HP:0003445)	1.76463508
97	Absent phalangeal crease (HP:0006109)	1.76364496
98	Stridor (HP:0010307)	1.76013354
99	Steppage gait (HP:0003376)	1.73755486
100	Postural instability (HP:0002172)	1.72112678

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	OBSCN	6.12633951
2	PINK1	5.63340785
3	MYLK	3.59059792
4	TTN	3.57234370
5	MARK3	2.57839138
6	LATS1	2.47873840
7	TRIB3	2.34010970
8	DDR2	2.28898177
9	EEF2K	2.21083633
10	PIK3CG	2.10038315
11	LATS2	2.08302258
12	MAP3K13	1.90209119
13	PHKG1	1.84090095
14	PHKG2	1.84090095
15	INSRR	1.78317306
16	STK38L	1.75425785
17	MOS	1.71640931
18	TRPM7	1.59119159
19	STK38	1.57271821
20	MAPK12	1.56716359
21	ICK	1.52893831
22	TESK1	1.52686589
23	NEK2	1.46601553
24	CDK12	1.44325304
25	MUSK	1.36622198
26	PRKG2	1.28979632
27	MAPKAPK3	1.27081539
28	PAK2	1.25738677
29	PDGFRA	1.25041288
30	MAP3K7	1.24793918
31	CDC42BPA	1.23022883
32	ARAF	1.19192321
33	RIPK1	1.14032266
34	NEK9	1.10646550
35	ROCK1	1.06513601
36	NME2	1.03379335
37	PDPK1	1.02874417
38	KIT	1.01826159
39	PTK2B	1.01390442
40	MTOR	0.98849071
41	MAP3K9	0.96919830
42	MAP3K1	0.96310151
43	RPS6KA2	0.88045297
44	TIE1	0.87384163
45	WNK1	0.86970440
46	KSR2	0.84964718
47	DMPK	0.82704660
48	PKN2	0.80928862
49	MAP3K10	0.79864002
50	MAP2K3	0.79274029
51	SIK1	0.73380663
52	CAMK1	0.72655562
53	PRPF4B	0.72272906
54	MAPK15	0.68555985
55	MAPK11	0.66748758
56	ERN1	0.63647548
57	PRKAA2	0.63191231
58	PDK1	0.59854345
59	MAPK7	0.59211556
60	PAK1	0.58030185
61	ROCK2	0.55289688
62	PRKAA1	0.55032147
63	PTK2	0.54978694
64	AKT2	0.54842674
65	TGFBR2	0.54146351
66	SGK494	0.52767097
67	SGK223	0.52767097
68	CAMK1G	0.52101498
69	CDK3	0.50140695
70	PRKD2	0.49899849
71	PLK4	0.49177992
72	MELK	0.48208684
73	ILK	0.47954975
74	DAPK3	0.46875704
75	PRKG1	0.46672607
76	RPS6KC1	0.46234600
77	RPS6KL1	0.46234600
78	CCNB1	0.45945403
79	CAMK1D	0.43856830
80	MARK2	0.42366321
81	KDR	0.40594791
82	CAMK4	0.40341389
83	TGFBR1	0.40338494
84	RPS6KA6	0.38819344
85	FLT3	0.35977101
86	RPS6KA1	0.34633687
87	RET	0.33761230
88	CDK8	0.32570047
89	PKN1	0.31423605
90	SGK2	0.29616327
91	EPHB1	0.29398535
92	SGK3	0.28977334
93	MAPK4	0.28429929
94	SIK2	0.28363424
95	CAMK2G	0.26998202
96	LIMK1	0.26995796
97	BRAF	0.26450307
98	CAMK2D	0.26108045
99	RPS6KB1	0.24504515
100	PDGFRB	0.24480717

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Dilated cardiomyopathy_Homo sapiens_hsa05414	3.96958495
2	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	3.90760315
3	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	3.02272923
4	ECM-receptor interaction_Homo sapiens_hsa04512	2.55550984
5	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532	2.40313286
6	Focal adhesion_Homo sapiens_hsa04510	2.35838107
7	Vascular smooth muscle contraction_Homo sapiens_hsa04270	2.16879602
8	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	2.09481639
9	Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923	1.85746374
10	Oxytocin signaling pathway_Homo sapiens_hsa04921	1.83947950
11	Olfactory transduction_Homo sapiens_hsa04740	1.78280231
12	Gap junction_Homo sapiens_hsa04540	1.63544208
13	Calcium signaling pathway_Homo sapiens_hsa04020	1.51369861
14	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	1.47710594
15	Circadian rhythm_Homo sapiens_hsa04710	1.43805889
16	Longevity regulating pathway - multiple species_Homo sapiens_hsa04213	1.37402341
17	Renin secretion_Homo sapiens_hsa04924	1.36795844
18	Protein digestion and absorption_Homo sapiens_hsa04974	1.35933465
19	Glucagon signaling pathway_Homo sapiens_hsa04922	1.34217192
20	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	1.29441939
21	Dorso-ventral axis formation_Homo sapiens_hsa04320	1.29198027
22	Cardiac muscle contraction_Homo sapiens_hsa04260	1.27087868
23	Arginine biosynthesis_Homo sapiens_hsa00220	1.23197983
24	Insulin signaling pathway_Homo sapiens_hsa04910	1.20617196
25	Gastric acid secretion_Homo sapiens_hsa04971	1.20027871
26	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	1.18134343
27	AMPK signaling pathway_Homo sapiens_hsa04152	1.17709732
28	Phenylalanine metabolism_Homo sapiens_hsa00360	1.16985417
29	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.15643811
30	Longevity regulating pathway - mammal_Homo sapiens_hsa04211	1.10086480
31	Regulation of actin cytoskeleton_Homo sapiens_hsa04810	1.09503486
32	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.08938126
33	Viral myocarditis_Homo sapiens_hsa05416	1.07601513
34	Hedgehog signaling pathway_Homo sapiens_hsa04340	1.04479334
35	Thyroid hormone signaling pathway_Homo sapiens_hsa04919	1.01910310
36	Insulin resistance_Homo sapiens_hsa04931	1.00176440
37	Platelet activation_Homo sapiens_hsa04611	0.97225766
38	Melanogenesis_Homo sapiens_hsa04916	0.95972149
39	PPAR signaling pathway_Homo sapiens_hsa03320	0.95519136
40	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.94681405
41	Butanoate metabolism_Homo sapiens_hsa00650	0.92106766
42	Salivary secretion_Homo sapiens_hsa04970	0.91346123
43	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.90760406
44	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.90234207
45	Estrogen signaling pathway_Homo sapiens_hsa04915	0.89368613
46	Other glycan degradation_Homo sapiens_hsa00511	0.87395544
47	Lysine degradation_Homo sapiens_hsa00310	0.86309410
48	Proteoglycans in cancer_Homo sapiens_hsa05205	0.83251352
49	MAPK signaling pathway_Homo sapiens_hsa04010	0.79954639
50	Amoebiasis_Homo sapiens_hsa05146	0.78771591
51	cAMP signaling pathway_Homo sapiens_hsa04024	0.78594246
52	mTOR signaling pathway_Homo sapiens_hsa04150	0.77207450
53	Arginine and proline metabolism_Homo sapiens_hsa00330	0.76238565
54	Glycosaminoglycan degradation_Homo sapiens_hsa00531	0.75731011
55	Adipocytokine signaling pathway_Homo sapiens_hsa04920	0.75547486
56	GnRH signaling pathway_Homo sapiens_hsa04912	0.75544636
57	Type II diabetes mellitus_Homo sapiens_hsa04930	0.73310207
58	AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933	0.72302755
59	Insulin secretion_Homo sapiens_hsa04911	0.72218696
60	Tight junction_Homo sapiens_hsa04530	0.71224730
61	Cholinergic synapse_Homo sapiens_hsa04725	0.71097934
62	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.70224448
63	PI3K-Akt signaling pathway_Homo sapiens_hsa04151	0.69307569
64	Notch signaling pathway_Homo sapiens_hsa04330	0.68799171
65	Central carbon metabolism in cancer_Homo sapiens_hsa05230	0.67640195
66	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	0.67518713
67	VEGF signaling pathway_Homo sapiens_hsa04370	0.67516537
68	Melanoma_Homo sapiens_hsa05218	0.66944424
69	Bladder cancer_Homo sapiens_hsa05219	0.66549885
70	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	0.66328443
71	Circadian entrainment_Homo sapiens_hsa04713	0.65879587
72	Small cell lung cancer_Homo sapiens_hsa05222	0.65831791
73	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.63540700
74	Glioma_Homo sapiens_hsa05214	0.60207136
75	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.60069455
76	Prostate cancer_Homo sapiens_hsa05215	0.59966015
77	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.59476299
78	Sulfur relay system_Homo sapiens_hsa04122	0.59425889
79	Long-term potentiation_Homo sapiens_hsa04720	0.56951629
80	FoxO signaling pathway_Homo sapiens_hsa04068	0.56542716
81	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.56474417
82	Phospholipase D signaling pathway_Homo sapiens_hsa04072	0.56331316
83	Fructose and mannose metabolism_Homo sapiens_hsa00051	0.55837964
84	Adherens junction_Homo sapiens_hsa04520	0.55050018
85	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.54757865
86	Malaria_Homo sapiens_hsa05144	0.53940825
87	Neurotrophin signaling pathway_Homo sapiens_hsa04722	0.50486176
88	Endometrial cancer_Homo sapiens_hsa05213	0.49477051
89	Apoptosis_Homo sapiens_hsa04210	0.47524201
90	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.46450037
91	B cell receptor signaling pathway_Homo sapiens_hsa04662	0.44545427
92	Acute myeloid leukemia_Homo sapiens_hsa05221	0.44416806
93	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.43968604
94	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	0.43802576
95	Pentose phosphate pathway_Homo sapiens_hsa00030	0.43746103
96	Taste transduction_Homo sapiens_hsa04742	0.42351606
97	Carbon metabolism_Homo sapiens_hsa01200	0.41063518
98	Pancreatic secretion_Homo sapiens_hsa04972	0.39902289
99	Non-small cell lung cancer_Homo sapiens_hsa05223	0.39638051
100	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.37668717

CSPG4P13

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)

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