ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	sarcoplasmic reticulum calcium ion transport (GO:0070296)	9.29688238
2	actin-mediated cell contraction (GO:0070252)	8.44401098
3	regulation of skeletal muscle contraction (GO:0014819)	7.82704010
4	skeletal muscle contraction (GO:0003009)	7.53299392
5	response to muscle activity (GO:0014850)	7.44411455
6	regulation of relaxation of muscle (GO:1901077)	7.07887189
7	myofibril assembly (GO:0030239)	6.80787882
8	sarcomere organization (GO:0045214)	6.44062963
9	actin filament-based movement (GO:0030048)	6.36055016
10	striated muscle contraction (GO:0006941)	5.61323917
11	positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)	5.52767190
12	response to stimulus involved in regulation of muscle adaptation (GO:0014874)	5.40142691
13	skeletal muscle fiber development (GO:0048741)	5.19944031
14	skeletal muscle adaptation (GO:0043501)	5.04425693
15	regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	5.03054835
16	creatine metabolic process (GO:0006600)	4.98875433
17	response to inactivity (GO:0014854)	4.87387602
18	cytidine deamination (GO:0009972)	4.86501966
19	cytidine metabolic process (GO:0046087)	4.86501966
20	cytidine catabolic process (GO:0006216)	4.86501966
21	plasma membrane repair (GO:0001778)	4.83194416
22	cardiac myofibril assembly (GO:0055003)	4.77783141
23	muscle contraction (GO:0006936)	4.75436363
24	myotube cell development (GO:0014904)	4.72302144
25	pyrimidine ribonucleoside catabolic process (GO:0046133)	4.62852623
26	actomyosin structure organization (GO:0031032)	4.43099967
27	muscle system process (GO:0003012)	4.34614136
28	muscle fiber development (GO:0048747)	4.27992765
29	glycogen catabolic process (GO:0005980)	4.10701944
30	cardiac muscle hypertrophy (GO:0003300)	4.08582543
31	regulation of gamma-delta T cell differentiation (GO:0045586)	4.06973576
32	cardiac muscle contraction (GO:0060048)	4.00006032
33	muscle cell cellular homeostasis (GO:0046716)	3.99408439
34	glucan catabolic process (GO:0009251)	3.98148424
35	skeletal muscle tissue development (GO:0007519)	3.94363215
36	regulation of actin filament-based movement (GO:1903115)	3.89383762
37	striated muscle hypertrophy (GO:0014897)	3.88258342
38	regulation of cell communication by electrical coupling (GO:0010649)	3.85460978
39	negative regulation of potassium ion transmembrane transporter activity (GO:1901017)	3.75305999
40	striated muscle adaptation (GO:0014888)	3.75285034
41	cellular polysaccharide catabolic process (GO:0044247)	3.73797493
42	regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	3.72718185
43	response to activity (GO:0014823)	3.66321553
44	negative regulation of T cell apoptotic process (GO:0070233)	3.65423543
45	regulation of calcineurin-NFAT signaling cascade (GO:0070884)	3.63186828
46	muscle hypertrophy (GO:0014896)	3.58121788
47	striated muscle atrophy (GO:0014891)	3.57319779
48	regulation of myoblast differentiation (GO:0045661)	3.55820901
49	regulation of gamma-delta T cell activation (GO:0046643)	3.48968551
50	muscle cell fate commitment (GO:0042693)	3.46728346
51	regulation of platelet aggregation (GO:0090330)	3.41706450
52	polysaccharide catabolic process (GO:0000272)	3.38216858
53	AMP metabolic process (GO:0046033)	3.37686201
54	glucan biosynthetic process (GO:0009250)	3.37521769
55	glycogen biosynthetic process (GO:0005978)	3.37521769
56	skeletal muscle tissue regeneration (GO:0043403)	3.34073931
57	negative regulation of muscle contraction (GO:0045932)	3.32139239
58	glycogen metabolic process (GO:0005977)	3.29205846
59	glucan metabolic process (GO:0044042)	3.26588833
60	cellular glucan metabolic process (GO:0006073)	3.26588833
61	pyrimidine nucleoside catabolic process (GO:0046135)	3.25124170
62	muscle structure development (GO:0061061)	3.22234252
63	regulation of striated muscle contraction (GO:0006942)	3.21523275
64	muscle adaptation (GO:0043500)	3.21342483
65	muscle organ development (GO:0007517)	3.21191801
66	adult heart development (GO:0007512)	3.19371378
67	fructose metabolic process (GO:0006000)	3.15580800
68	positive regulation of myotube differentiation (GO:0010831)	3.15056810
69	muscle atrophy (GO:0014889)	3.14976634
70	response to interleukin-15 (GO:0070672)	3.14781202
71	positive regulation of gamma-delta T cell activation (GO:0046645)	3.14749074
72	striated muscle cell development (GO:0055002)	3.14147951
73	carnitine shuttle (GO:0006853)	3.13945231
74	positive regulation of myoblast differentiation (GO:0045663)	3.13836488
75	regulation of activation of Janus kinase activity (GO:0010533)	3.13710423
76	muscle tissue morphogenesis (GO:0060415)	3.11870787
77	negative regulation of potassium ion transmembrane transport (GO:1901380)	3.10479153
78	cellular response to interleukin-15 (GO:0071350)	3.08482430
79	negative regulation of thymocyte apoptotic process (GO:0070244)	3.07405207
80	negative regulation of necroptotic process (GO:0060546)	3.05755474
81	negative regulation of homotypic cell-cell adhesion (GO:0034111)	3.03182365
82	relaxation of muscle (GO:0090075)	3.01204062
83	muscle organ morphogenesis (GO:0048644)	2.99081009
84	regulation of homotypic cell-cell adhesion (GO:0034110)	2.99065462
85	cardiac muscle tissue morphogenesis (GO:0055008)	2.98456113
86	regulation of skeletal muscle fiber development (GO:0048742)	2.92146681
87	regulation of myotube differentiation (GO:0010830)	2.90503948
88	regulation of release of sequestered calcium ion into cytosol (GO:0051279)	2.87189701
89	ADP metabolic process (GO:0046031)	2.84971689
90	regulation of sequestering of triglyceride (GO:0010889)	2.83521569
91	2-oxoglutarate metabolic process (GO:0006103)	2.81418048
92	regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)	2.80896199
93	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO	2.80811245
94	striated muscle tissue development (GO:0014706)	2.80495009
95	regulation of sequestering of calcium ion (GO:0051282)	2.79351777
96	cardiac muscle hypertrophy in response to stress (GO:0014898)	2.78578025
97	muscle hypertrophy in response to stress (GO:0003299)	2.78578025
98	cardiac muscle adaptation (GO:0014887)	2.78578025
99	muscle filament sliding (GO:0030049)	10.2164497
100	actin-myosin filament sliding (GO:0033275)	10.2164497

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	STAT6_20620947_ChIP-Seq_CD4_POS_T_Human	3.08232087
2	ESR1_20079471_ChIP-ChIP_T-47D_Human	2.81758242
3	FOXP3_17237761_ChIP-ChIP_TREG_Mouse	2.65515651
4	IRF1_21803131_ChIP-Seq_MONOCYTES_Human	2.63365694
5	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.61650023
6	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	2.48372464
7	EZH2_22144423_ChIP-Seq_EOC_Human	2.45033240
8	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.42123169
9	RUNX_20019798_ChIP-Seq_JUKART_Human	2.29628844
10	CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human	2.25148696
11	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	2.11767999
12	CDX2_19796622_ChIP-Seq_MESCs_Mouse	2.08902959
13	BP1_19119308_ChIP-ChIP_Hs578T_Human	10.5730424
14	IGF1R_20145208_ChIP-Seq_DFB_Human	1.79783900
15	TBX20_22080862_ChIP-Seq_HEART_Mouse	1.77771170
16	TBX20_22328084_ChIP-Seq_HEART_Mouse	1.77771170
17	SMAD_19615063_ChIP-ChIP_OVARY_Human	1.73989654
18	RUNX1_20887958_ChIP-Seq_HPC-7_Mouse	1.63415016
19	PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse	1.60226340
20	GBX2_23144817_ChIP-Seq_PC3_Human	1.53112502
21	EP300_21415370_ChIP-Seq_HL-1_Mouse	1.50637710
22	LMO2_20887958_ChIP-Seq_HPC-7_Mouse	1.48975466
23	SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	1.48400145
24	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.42836614
25	IRF8_22096565_ChIP-ChIP_GC-B_Human	1.35595435
26	AR_21572438_ChIP-Seq_LNCaP_Human	1.35311198
27	GATA2_21666600_ChIP-Seq_HMVEC_Human	1.32075689
28	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.30887034
29	MYB_26560356_Chip-Seq_TH2_Human	1.25606467
30	BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human	1.24891132
31	FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse	1.22787654
32	ER_23166858_ChIP-Seq_MCF-7_Human	1.20760217
33	STAT4_19710469_ChIP-ChIP_TH1__Mouse	1.16136685
34	STAT3_20064451_ChIP-Seq_CD4+T_Mouse	1.13583267
35	GATA1_19941827_ChIP-Seq_MEL_Mouse	1.13321963
36	VDR_24787735_ChIP-Seq_THP-1_Human	1.07815050
37	TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.07338342
38	PPARG_19300518_ChIP-PET_3T3-L1_Mouse	1.07325384
39	MEF2A_21415370_ChIP-Seq_HL-1_Mouse	1.07177250
40	MAF_26560356_Chip-Seq_TH1_Human	1.06369796
41	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.05930048
42	Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse	1.04995491
43	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.04739138
44	GATA2_20887958_ChIP-Seq_HPC-7_Mouse	1.04342610
45	ESR2_21235772_ChIP-Seq_MCF-7_Human	1.03850134
46	MECOM_23826213_ChIP-Seq_KASUMI_Mouse	1.01949422
47	DROSHA_22980978_ChIP-Seq_HELA_Human	1.01409607
48	VDR_22108803_ChIP-Seq_LS180_Human	1.01354690
49	SPI1_23127762_ChIP-Seq_K562_Human	1.01207606
50	GATA3_27048872_Chip-Seq_THYMUS_Human	1.00931108
51	GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	0.98205887
52	CJUN_26792858_Chip-Seq_BT549_Human	0.97517939
53	PCGF2_27294783_Chip-Seq_ESCs_Mouse	0.96799869
54	FLI1_27457419_Chip-Seq_LIVER_Mouse	0.95560527
55	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	0.94276369
56	MAF_26560356_Chip-Seq_TH2_Human	0.93995397
57	NKX2-5_21415370_ChIP-Seq_HL-1_Mouse	0.93705613
58	HTT_18923047_ChIP-ChIP_STHdh_Human	0.92985416
59	STAT1_20625510_ChIP-Seq_HELA_Human	0.92796573
60	ESR1_22446102_ChIP-Seq_UTERUS_Mouse	0.91060289
61	JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	0.90728456
62	KDM2B_26808549_Chip-Seq_DND41_Human	0.90235302
63	E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human	0.89526238
64	SPI1_20517297_ChIP-Seq_HL60_Human	0.85842493
65	CTCF_21964334_ChIP-Seq_BJAB-B_Human	0.84808528
66	IRF8_27001747_Chip-Seq_BMDM_Mouse	0.84694558
67	UTX_26944678_Chip-Seq_JUKART_Human	0.84417980
68	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	0.83667502
69	TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	0.83446070
70	SMAD3_21741376_ChIP-Seq_HESCs_Human	0.81554419
71	RXR_22108803_ChIP-Seq_LS180_Human	0.80856647
72	NANOG_20526341_ChIP-Seq_ESCs_Human	0.80512224
73	CRX_20693478_ChIP-Seq_RETINA_Mouse	0.80381276
74	EZH2_27294783_Chip-Seq_NPCs_Mouse	0.79784335
75	ZNF652_21678463_ChIP-ChIP_ZR75-1_Human	0.78463666
76	PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse	0.77721693
77	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	0.76055663
78	GATA1_19941827_ChIP-Seq_MEL86_Mouse	0.75843720
79	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	0.75786907
80	NRF2_20460467_ChIP-Seq_MEFs_Mouse	0.74570709
81	NFE2L2_20460467_ChIP-Seq_MEFs_Mouse	0.74570709
82	GATA2_19941826_ChIP-Seq_K562_Human	0.74142060
83	SUZ12_27294783_Chip-Seq_NPCs_Mouse	0.73785955
84	SMC3_22415368_ChIP-Seq_MEFs_Mouse	0.73295136
85	GATA4_21415370_ChIP-Seq_HL-1_Mouse	0.72755166
86	MEIS1_20887958_ChIP-Seq_HPC-7_Mouse	0.72633749
87	AUTS2_25519132_ChIP-Seq_293T-REX_Human	0.71355931
88	MYB_26560356_Chip-Seq_TH1_Human	0.70956490
89	RARG_19884340_ChIP-ChIP_MEFs_Mouse	0.70852187
90	P53_22127205_ChIP-Seq_FIBROBLAST_Human	0.70666426
91	TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse	0.70377481
92	CEBPB_22108803_ChIP-Seq_LS180_Human	0.70092210
93	OCT4_21477851_ChIP-Seq_ESCs_Mouse	0.69956031
94	KDM2B_26808549_Chip-Seq_SUP-B15_Human	0.68582419
95	SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse	0.66691620
96	CTCF_21964334_Chip-Seq_Bcells_Human	0.66363007
97	THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse	0.66009286
98	EZH2_27294783_Chip-Seq_ESCs_Mouse	0.64952339
99	NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse	0.64147631
100	GATA3_26560356_Chip-Seq_TH2_Human	0.63912631

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0004145_abnormal_muscle_electrophysio	6.13022453
2	MP0003646_muscle_fatigue	6.01363654
3	MP0000749_muscle_degeneration	5.78191338
4	MP0000751_myopathy	4.63697994
5	MP0004036_abnormal_muscle_relaxation	4.33915624
6	MP0004084_abnormal_cardiac_muscle	3.99240095
7	MP0005451_abnormal_body_composition	3.92978850
8	MP0002106_abnormal_muscle_physiology	3.05635262
9	MP0000759_abnormal_skeletal_muscle	3.01148952
10	MP0004087_abnormal_muscle_fiber	2.93393365
11	MP0002269_muscular_atrophy	2.87579125
12	MP0002332_abnormal_exercise_endurance	2.87042803
13	MP0005620_abnormal_muscle_contractility	2.71888776
14	MP0000747_muscle_weakness	2.64055069
15	MP0005369_muscle_phenotype	2.61864770
16	MP0004233_abnormal_muscle_weight	2.58222062
17	MP0004130_abnormal_muscle_cell	2.55684029
18	MP0005330_cardiomyopathy	2.54689058
19	MP0002837_dystrophic_cardiac_calcinosis	2.39908074
20	MP0000750_abnormal_muscle_regeneration	2.16791236
21	MP0002972_abnormal_cardiac_muscle	2.04240153
22	MP0005083_abnormal_biliary_tract	1.95974524
23	MP0004484_altered_response_of	1.93086398
24	MP0000733_abnormal_muscle_development	1.74909198
25	MP0004510_myositis	1.73983214
26	MP0002108_abnormal_muscle_morphology	1.72397410
27	MP0002127_abnormal_cardiovascular_syste	1.67190510
28	MP0004215_abnormal_myocardial_fiber	1.59999493
29	MP0000013_abnormal_adipose_tissue	1.56578647
30	MP0006036_abnormal_mitochondrial_physio	1.52364453
31	MP0006138_congestive_heart_failure	1.49077259
32	MP0005266_abnormal_metabolism	1.39078888
33	MP0001661_extended_life_span	1.36428238
34	MP0003763_abnormal_thymus_physiology	1.35479038
35	MP0005385_cardiovascular_system_phenoty	1.35301722
36	MP0001544_abnormal_cardiovascular_syste	1.35301722
37	MP0008004_abnormal_stomach_pH	1.35279443
38	MP0003828_pulmonary_edema	1.33749795
39	MP0005671_abnormal_response_to	1.33407687
40	MP0003045_fibrosis	1.31752283
41	MP0010630_abnormal_cardiac_muscle	1.27285202
42	MP0008775_abnormal_heart_ventricle	1.06260110
43	MP0005464_abnormal_platelet_physiology	1.05853767
44	MP0003221_abnormal_cardiomyocyte_apopto	1.03800684
45	MP0003950_abnormal_plasma_membrane	1.02975235
46	MP0003806_abnormal_nucleotide_metabolis	1.01362977
47	MP0005670_abnormal_white_adipose	1.01332964
48	MP0009785_altered_susceptibility_to	0.96341536
49	MP0003724_increased_susceptibility_to	0.93845703
50	MP0005167_abnormal_blood-brain_barrier	0.86652318
51	MP0005375_adipose_tissue_phenotype	0.83397681
52	MP0005166_decreased_susceptibility_to	0.79737714
53	MP0002971_abnormal_brown_adipose	0.79470988
54	MP0004381_abnormal_hair_follicle	0.77725814
55	MP0002138_abnormal_hepatobiliary_system	0.76525193
56	MP0005666_abnormal_adipose_tissue	0.75295100
57	MP0004185_abnormal_adipocyte_glucose	0.74730295
58	MP0000003_abnormal_adipose_tissue	0.72724010
59	MP0000343_altered_response_to	0.71894389
60	MP0005000_abnormal_immune_tolerance	0.71182950
61	MP0001800_abnormal_humoral_immune	0.70821415
62	MP0002723_abnormal_immune_serum	0.61162875
63	MP0003656_abnormal_erythrocyte_physiolo	0.59520432
64	MP0004043_abnormal_pH_regulation	0.59483140
65	MP0002148_abnormal_hypersensitivity_rea	0.59110824
66	MP0002420_abnormal_adaptive_immunity	0.58724049
67	MP0003252_abnormal_bile_duct	0.57739643
68	MP0003436_decreased_susceptibility_to	0.57506337
69	MP0004134_abnormal_chest_morphology	0.57354715
70	MP0002419_abnormal_innate_immunity	0.56826903
71	MP0001835_abnormal_antigen_presentation	0.56125431
72	MP0001819_abnormal_immune_cell	0.55918382
73	MP0008569_lethality_at_weaning	0.55092363
74	MP0005025_abnormal_response_to	0.54988319
75	MP0010368_abnormal_lymphatic_system	0.54291974
76	MP0002998_abnormal_bone_remodeling	0.52508942
77	MP0003300_gastrointestinal_ulcer	0.52488464
78	MP0002452_abnormal_antigen_presenting	0.51881258
79	MP0003137_abnormal_impulse_conducting	0.51392177
80	MP0001790_abnormal_immune_system	0.50467641
81	MP0005387_immune_system_phenotype	0.50467641
82	MP0002128_abnormal_blood_circulation	0.50350047
83	MP0002132_abnormal_respiratory_system	0.50064735
84	MP0000230_abnormal_systemic_arterial	0.49900307
85	MP0002933_joint_inflammation	0.49299451
86	MP0001873_stomach_inflammation	0.48786437
87	MP0000249_abnormal_blood_vessel	0.48526871
88	MP0005165_increased_susceptibility_to	0.47898905
89	MP0005376_homeostasis/metabolism_phenot	0.47199093
90	MP0005085_abnormal_gallbladder_physiolo	0.46576192
91	MP0005319_abnormal_enzyme/_coenzyme	0.46327697
92	MP0010155_abnormal_intestine_physiology	0.46292228
93	MP0002078_abnormal_glucose_homeostasis	0.45301839
94	MP0009333_abnormal_splenocyte_physiolog	0.44401193
95	MP0005584_abnormal_enzyme/coenzyme_acti	0.44109596
96	MP0009764_decreased_sensitivity_to	0.42879687
97	MP0004085_abnormal_heartbeat	0.42724321
98	MP0003959_abnormal_lean_body	0.42088163
99	MP0000703_abnormal_thymus_morphology	0.41752827
100	MP0002405_respiratory_system_inflammati	0.41326186

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Nemaline bodies (HP:0003798)	9.90054125
2	Exercise-induced myalgia (HP:0003738)	7.95997312
3	Type 1 muscle fiber predominance (HP:0003803)	7.67719072
4	Exercise-induced muscle cramps (HP:0003710)	7.20436555
5	Muscle hypertrophy of the lower extremities (HP:0008968)	5.95150364
6	Myopathic facies (HP:0002058)	5.62060410
7	Distal arthrogryposis (HP:0005684)	5.53429819
8	EMG: myopathic abnormalities (HP:0003458)	5.52425242
9	Hyporeflexia of lower limbs (HP:0002600)	5.39596223
10	Calf muscle hypertrophy (HP:0008981)	5.38022361
11	Muscle fiber splitting (HP:0003555)	5.17138431
12	Rhabdomyolysis (HP:0003201)	5.11584277
13	Myoglobinuria (HP:0002913)	4.99679410
14	Abnormality of skeletal muscle fiber size (HP:0012084)	4.89166462
15	Abnormality of the calf musculature (HP:0001430)	4.59663715
16	Neck muscle weakness (HP:0000467)	4.56171698
17	Centrally nucleated skeletal muscle fibers (HP:0003687)	4.53313470
18	Rimmed vacuoles (HP:0003805)	4.53292039
19	Increased variability in muscle fiber diameter (HP:0003557)	4.44139367
20	Round ear (HP:0100830)	4.27330111
21	Ulnar deviation of the wrist (HP:0003049)	4.07818014
22	Difficulty running (HP:0009046)	3.84007318
23	Subaortic stenosis (HP:0001682)	3.68969717
24	Abnormality of the left ventricular outflow tract (HP:0011103)	3.68969717
25	Areflexia of lower limbs (HP:0002522)	3.54975406
26	Muscle stiffness (HP:0003552)	3.43353188
27	Increased connective tissue (HP:0009025)	3.42292806
28	Frequent falls (HP:0002359)	3.42179557
29	Sudden death (HP:0001699)	3.40430008
30	Distal lower limb muscle weakness (HP:0009053)	3.32342510
31	Calcaneovalgus deformity (HP:0001848)	3.25177901
32	Malignant hyperthermia (HP:0002047)	3.21074305
33	Absent phalangeal crease (HP:0006109)	3.06673550
34	Scapular winging (HP:0003691)	3.04937879
35	Generalized muscle weakness (HP:0003324)	3.00467157
36	Deformed tarsal bones (HP:0008119)	2.94340528
37	Asymmetric septal hypertrophy (HP:0001670)	2.91176383
38	Myotonia (HP:0002486)	2.85946155
39	Bulbar palsy (HP:0001283)	2.81403880
40	Bundle branch block (HP:0011710)	2.78369780
41	Spinal rigidity (HP:0003306)	2.76560697
42	EMG: neuropathic changes (HP:0003445)	2.76057774
43	Muscular dystrophy (HP:0003560)	2.73242018
44	Dilated cardiomyopathy (HP:0001644)	2.61094326
45	Weak cry (HP:0001612)	2.57347560
46	Abnormality of the shoulder girdle musculature (HP:0001435)	2.55343001
47	Mildly elevated creatine phosphokinase (HP:0008180)	2.54609902
48	Abnormal finger flexion creases (HP:0006143)	2.51716009
49	Slender build (HP:0001533)	2.47832256
50	Lipoatrophy (HP:0100578)	2.28990567
51	Distal lower limb amyotrophy (HP:0008944)	2.28053154
52	Hyperkalemia (HP:0002153)	2.26400554
53	Progressive muscle weakness (HP:0003323)	2.21627599
54	Difficulty climbing stairs (HP:0003551)	2.20696590
55	Proximal amyotrophy (HP:0007126)	2.20654838
56	Ventricular tachycardia (HP:0004756)	2.19868425
57	Fetal akinesia sequence (HP:0001989)	2.17260678
58	Gowers sign (HP:0003391)	2.17225040
59	Facial diplegia (HP:0001349)	2.14348059
60	Abnormality of the neuromuscular junction (HP:0003398)	2.12689222
61	Fatigable weakness (HP:0003473)	2.12689222
62	Waddling gait (HP:0002515)	2.12623786
63	Limb-girdle muscle atrophy (HP:0003797)	2.01482749
64	Muscle fiber inclusion bodies (HP:0100299)	10.4814820
65	Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)	10.0821642
66	Abnormality of the foot musculature (HP:0001436)	1.95272360
67	Respiratory insufficiency due to muscle weakness (HP:0002747)	1.91375703
68	Foot dorsiflexor weakness (HP:0009027)	1.90397176
69	Nonprogressive disorder (HP:0003680)	1.80457527
70	Hip contracture (HP:0003273)	1.80273568
71	Paralysis (HP:0003470)	1.79381695
72	Ragged-red muscle fibers (HP:0003200)	1.79364079
73	Steppage gait (HP:0003376)	1.74359953
74	Clumsiness (HP:0002312)	1.74004534
75	Chest pain (HP:0100749)	1.71729367
76	Ulnar deviation of finger (HP:0009465)	1.69057103
77	Heart block (HP:0012722)	1.68751127
78	Type 2 muscle fiber atrophy (HP:0003554)	1.67678794
79	Abnormality of T cell number (HP:0011839)	1.67569265
80	Abnormality of the calcaneus (HP:0008364)	1.66613340
81	Ventricular arrhythmia (HP:0004308)	1.66567193
82	Pelvic girdle muscle weakness (HP:0003749)	1.66213082
83	Increased intramyocellular lipid droplets (HP:0012240)	1.64872866
84	Aortic aneurysm (HP:0004942)	1.62618473
85	Increased muscle lipid content (HP:0009058)	1.62321674
86	Abnormality of the hip-girdle musculature (HP:0001445)	1.60398801
87	Abnormality of the musculature of the pelvis (HP:0001469)	1.60398801
88	Muscle fiber atrophy (HP:0100295)	1.58430779
89	Exercise intolerance (HP:0003546)	1.58240451
90	Abnormal atrioventricular conduction (HP:0005150)	1.57679924
91	Popliteal pterygium (HP:0009756)	1.57616923
92	T lymphocytopenia (HP:0005403)	1.57397342
93	Shoulder girdle muscle weakness (HP:0003547)	1.56331437
94	Lower limb amyotrophy (HP:0007210)	1.54030842
95	Limb-girdle muscle weakness (HP:0003325)	1.50943396
96	Long clavicles (HP:0000890)	1.44930826
97	Easy fatigability (HP:0003388)	1.43526845
98	Ventricular fibrillation (HP:0001663)	1.42334525
99	Eosinophilia (HP:0001880)	1.41553568
100	Ulnar deviation of the hand or of fingers of the hand (HP:0001193)	1.38970943

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	TTN	4.84049444
2	PHKG1	4.61040898
3	PHKG2	4.61040898
4	PINK1	3.45385002
5	PIK3CG	2.80545648
6	TXK	2.76351198
7	OBSCN	10.2257869
8	MAPK12	1.89954573
9	MAP3K7	1.80254478
10	ARAF	1.79811686
11	MARK3	1.79069417
12	CCNB1	1.70624009
13	MAP3K10	1.41391635
14	MOS	1.39922634
15	TRPM7	1.17829768
16	MAP4K1	1.14958886
17	MAP2K3	1.14722619
18	MUSK	1.06139179
19	BLK	1.01789758
20	MAPKAPK3	0.99254580
21	PIK3CA	0.98121920
22	ZAP70	0.97372862
23	MAP3K13	0.92978361
24	MYLK	0.92560952
25	EEF2K	0.89714461
26	NEK9	0.89219572
27	GRK7	0.88375538
28	TGFBR2	0.88211228
29	ITK	0.84697123
30	PRKAA2	0.84367255
31	PRKCQ	0.78549154
32	KDR	0.75114233
33	MAP3K1	0.72922395
34	NME1	0.72157740
35	SYK	0.70366892
36	NEK2	0.66949379
37	TEC	0.66876033
38	CSK	0.66703651
39	BRAF	0.64501028
40	MAPK11	0.64339283
41	PTK2B	0.63706273
42	TIE1	0.62625817
43	PRKG2	0.61053522
44	MAPK7	0.59889428
45	GRK5	0.59736907
46	CAMK2G	0.58125007
47	DMPK	0.57220536
48	CAMK4	0.54553974
49	BTK	0.54483714
50	ROCK1	0.50610926
51	LATS1	0.49926501
52	TNK2	0.49438432
53	RAF1	0.48319833
54	PIM2	0.48230381
55	PRKG1	0.47709354
56	MAPK4	0.46654835
57	MELK	0.46549825
58	RPS6KB1	0.46374771
59	ADRBK2	0.46015134
60	MAP2K4	0.44713702
61	LATS2	0.44619685
62	CAMK1	0.44225616
63	MAP4K2	0.44049018
64	HCK	0.42687178
65	JAK2	0.42034083
66	TBK1	0.41924966
67	FES	0.41750155
68	JAK3	0.41373444
69	PRKAA1	0.37941651
70	PDK1	0.36916263
71	MAP3K3	0.34588938
72	ERN1	0.34220754
73	JAK1	0.33790563
74	PDPK1	0.32260125
75	GRK6	0.31894966
76	RIPK1	0.31002551
77	CAMK2D	0.30943320
78	AKT2	0.30219692
79	MAP2K6	0.29169362
80	RPS6KC1	0.28942733
81	RPS6KL1	0.28942733
82	PKN1	0.28631342
83	DYRK1B	0.27141904
84	LCK	0.27117612
85	RPS6KA1	0.26444397
86	LIMK1	0.26322768
87	SGK3	0.25107360
88	RPS6KA6	0.24821263
89	NLK	0.24465090
90	CAMK2A	0.24208879
91	PRKACA	0.24085377
92	MAP3K14	0.23961380
93	SGK2	0.23864532
94	PAK1	0.23669072
95	MAP3K5	0.23254339
96	CDC42BPA	0.22719916
97	TRIB3	0.21724521
98	RPS6KA2	0.20859179
99	IKBKE	0.20356485
100	EPHB1	0.19637434

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	4.44599316
2	Dilated cardiomyopathy_Homo sapiens_hsa05414	4.04096336
3	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	3.13166946
4	Cardiac muscle contraction_Homo sapiens_hsa04260	2.79967852
5	Circadian rhythm_Homo sapiens_hsa04710	2.49758413
6	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	2.19857585
7	Oxytocin signaling pathway_Homo sapiens_hsa04921	2.01278930
8	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	1.80645709
9	T cell receptor signaling pathway_Homo sapiens_hsa04660	1.80426935
10	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	1.80105252
11	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	1.72739647
12	Primary immunodeficiency_Homo sapiens_hsa05340	1.70712686
13	Insulin signaling pathway_Homo sapiens_hsa04910	1.66765651
14	Glucagon signaling pathway_Homo sapiens_hsa04922	1.65414551
15	Calcium signaling pathway_Homo sapiens_hsa04020	1.63563861
16	Vascular smooth muscle contraction_Homo sapiens_hsa04270	1.62905965
17	Insulin resistance_Homo sapiens_hsa04931	1.54025879
18	Platelet activation_Homo sapiens_hsa04611	1.46848286
19	Nitrogen metabolism_Homo sapiens_hsa00910	1.45188122
20	Natural killer cell mediated cytotoxicity_Homo sapiens_hsa04650	1.40529187
21	Adipocytokine signaling pathway_Homo sapiens_hsa04920	1.39301140
22	Viral myocarditis_Homo sapiens_hsa05416	1.37590075
23	Arginine and proline metabolism_Homo sapiens_hsa00330	1.33039568
24	Pentose phosphate pathway_Homo sapiens_hsa00030	1.30369895
25	Autoimmune thyroid disease_Homo sapiens_hsa05320	1.29211971
26	Hematopoietic cell lineage_Homo sapiens_hsa04640	1.23969033
27	Renin secretion_Homo sapiens_hsa04924	1.22104998
28	Graft-versus-host disease_Homo sapiens_hsa05332	1.21435437
29	Gastric acid secretion_Homo sapiens_hsa04971	1.18801671
30	Arginine biosynthesis_Homo sapiens_hsa00220	1.13672486
31	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	1.10318774
32	Fructose and mannose metabolism_Homo sapiens_hsa00051	1.10300900
33	Focal adhesion_Homo sapiens_hsa04510	1.08905521
34	NF-kappa B signaling pathway_Homo sapiens_hsa04064	1.07890799
35	AMPK signaling pathway_Homo sapiens_hsa04152	1.06784911
36	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	1.05440001
37	Toll-like receptor signaling pathway_Homo sapiens_hsa04620	1.04100714
38	Allograft rejection_Homo sapiens_hsa05330	1.03156966
39	Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923	1.02671973
40	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	1.02253972
41	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	0.98063444
42	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.95844435
43	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.95672047
44	Jak-STAT signaling pathway_Homo sapiens_hsa04630	0.90464029
45	Malaria_Homo sapiens_hsa05144	0.90079692
46	Rheumatoid arthritis_Homo sapiens_hsa05323	0.89989247
47	Chagas disease (American trypanosomiasis)_Homo sapiens_hsa05142	0.87561870
48	Salivary secretion_Homo sapiens_hsa04970	0.84364465
49	FoxO signaling pathway_Homo sapiens_hsa04068	0.83628308
50	Measles_Homo sapiens_hsa05162	0.82000388
51	Fatty acid degradation_Homo sapiens_hsa00071	0.81805609
52	Osteoclast differentiation_Homo sapiens_hsa04380	0.80643275
53	Olfactory transduction_Homo sapiens_hsa04740	0.78403831
54	Non-small cell lung cancer_Homo sapiens_hsa05223	0.76930659
55	Chemokine signaling pathway_Homo sapiens_hsa04062	0.71926087
56	MAPK signaling pathway_Homo sapiens_hsa04010	0.69698612
57	Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750	0.67965506
58	Carbon metabolism_Homo sapiens_hsa01200	0.67092873
59	Regulation of actin cytoskeleton_Homo sapiens_hsa04810	0.66876301
60	Long-term depression_Homo sapiens_hsa04730	0.65538306
61	Longevity regulating pathway - multiple species_Homo sapiens_hsa04213	0.64814906
62	Long-term potentiation_Homo sapiens_hsa04720	0.61192849
63	Thyroid hormone signaling pathway_Homo sapiens_hsa04919	0.60844694
64	Salmonella infection_Homo sapiens_hsa05132	0.58569134
65	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.57542865
66	Circadian entrainment_Homo sapiens_hsa04713	0.54988908
67	Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014	0.54974245
68	ECM-receptor interaction_Homo sapiens_hsa04512	0.54170952
69	PPAR signaling pathway_Homo sapiens_hsa03320	0.53028965
70	Tuberculosis_Homo sapiens_hsa05152	0.52017055
71	Leukocyte transendothelial migration_Homo sapiens_hsa04670	0.50609846
72	VEGF signaling pathway_Homo sapiens_hsa04370	0.50057229
73	B cell receptor signaling pathway_Homo sapiens_hsa04662	0.48581503
74	GnRH signaling pathway_Homo sapiens_hsa04912	0.48300217
75	Alzheimers disease_Homo sapiens_hsa05010	0.47427841
76	Glioma_Homo sapiens_hsa05214	0.45582158
77	Amoebiasis_Homo sapiens_hsa05146	0.44782977
78	TNF signaling pathway_Homo sapiens_hsa04668	0.44680649
79	Apoptosis_Homo sapiens_hsa04210	0.43953373
80	Regulation of autophagy_Homo sapiens_hsa04140	0.43576316
81	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.42582319
82	Longevity regulating pathway - mammal_Homo sapiens_hsa04211	0.41046003
83	beta-Alanine metabolism_Homo sapiens_hsa00410	0.40838667
84	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.39702724
85	Leishmaniasis_Homo sapiens_hsa05140	0.39480348
86	Fc epsilon RI signaling pathway_Homo sapiens_hsa04664	0.39313275
87	HTLV-I infection_Homo sapiens_hsa05166	0.39029378
88	Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666	0.38226601
89	Tight junction_Homo sapiens_hsa04530	0.38033799
90	Type I diabetes mellitus_Homo sapiens_hsa04940	0.36628348
91	Acute myeloid leukemia_Homo sapiens_hsa05221	0.36291051
92	cAMP signaling pathway_Homo sapiens_hsa04024	0.35948496
93	Propanoate metabolism_Homo sapiens_hsa00640	0.34790887
94	Parkinsons disease_Homo sapiens_hsa05012	0.34750875
95	NOD-like receptor signaling pathway_Homo sapiens_hsa04621	0.33961022
96	Neurotrophin signaling pathway_Homo sapiens_hsa04722	0.33174113
97	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.32505031
98	Phenylalanine metabolism_Homo sapiens_hsa00360	0.32194945
99	Endometrial cancer_Homo sapiens_hsa05213	0.30232487
100	mTOR signaling pathway_Homo sapiens_hsa04150	0.29920590

SVILP1

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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