ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	skeletal muscle adaptation (GO:0043501)	8.53336330
2	actin filament-based movement (GO:0030048)	8.46099831
3	skeletal muscle fiber development (GO:0048741)	7.49076989
4	pyrimidine ribonucleoside catabolic process (GO:0046133)	7.39123087
5	cytidine catabolic process (GO:0006216)	7.25465638
6	cytidine deamination (GO:0009972)	7.25465638
7	cytidine metabolic process (GO:0046087)	7.25465638
8	myotube cell development (GO:0014904)	6.49349142
9	striated muscle contraction (GO:0006941)	6.35605986
10	sarcomere organization (GO:0045214)	6.22764278
11	negative regulation of potassium ion transmembrane transporter activity (GO:1901017)	6.12356157
12	positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)	6.12131340
13	regulation of cell communication by electrical coupling (GO:0010649)	5.99117899
14	myofibril assembly (GO:0030239)	5.93666752
15	response to stimulus involved in regulation of muscle adaptation (GO:0014874)	5.71487097
16	skeletal muscle tissue regeneration (GO:0043403)	5.61329470
17	muscle contraction (GO:0006936)	5.53189428
18	regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	5.27113172
19	response to muscle activity (GO:0014850)	5.20818116
20	regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	5.15222968
21	creatine metabolic process (GO:0006600)	5.13066933
22	glycogen catabolic process (GO:0005980)	5.12836928
23	muscle system process (GO:0003012)	4.93405792
24	striated muscle atrophy (GO:0014891)	4.85657802
25	carnitine shuttle (GO:0006853)	4.83532003
26	striated muscle adaptation (GO:0014888)	4.83049300
27	glucan catabolic process (GO:0009251)	4.77990397
28	purine nucleotide salvage (GO:0032261)	4.74246128
29	response to inactivity (GO:0014854)	4.66879178
30	IMP metabolic process (GO:0046040)	4.66516276
31	muscle fiber development (GO:0048747)	4.62010059
32	glucan biosynthetic process (GO:0009250)	4.59086840
33	glycogen biosynthetic process (GO:0005978)	4.59086840
34	muscle atrophy (GO:0014889)	4.57929163
35	regulation of calcineurin-NFAT signaling cascade (GO:0070884)	4.56294264
36	cellular polysaccharide catabolic process (GO:0044247)	4.52209094
37	regulation of relaxation of muscle (GO:1901077)	4.51006580
38	negative regulation of potassium ion transmembrane transport (GO:1901380)	4.46237156
39	actomyosin structure organization (GO:0031032)	4.43182105
40	muscle adaptation (GO:0043500)	4.23618434
41	regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)	4.22331492
42	polysaccharide catabolic process (GO:0000272)	4.21252712
43	skeletal muscle tissue development (GO:0007519)	4.18902093
44	fatty acid transmembrane transport (GO:1902001)	4.10778968
45	muscle organ development (GO:0007517)	3.93804091
46	muscle structure development (GO:0061061)	3.90967577
47	IMP biosynthetic process (GO:0006188)	3.86070182
48	response to activity (GO:0014823)	3.83198542
49	regulation of myoblast differentiation (GO:0045661)	3.82884615
50	regulation of acyl-CoA biosynthetic process (GO:0050812)	3.80441756
51	negative regulation of cAMP-mediated signaling (GO:0043951)	3.60240265
52	glycogen metabolic process (GO:0005977)	3.55108209
53	striated muscle cell development (GO:0055002)	3.53948689
54	positive regulation of mitochondrial calcium ion concentration (GO:0051561)	3.47837463
55	glucan metabolic process (GO:0044042)	3.47346382
56	cellular glucan metabolic process (GO:0006073)	3.47346382
57	cardiac myofibril assembly (GO:0055003)	3.43435241
58	regulation of skeletal muscle cell differentiation (GO:2001014)	3.40538130
59	cardiac muscle contraction (GO:0060048)	3.39465646
60	positive regulation of myoblast differentiation (GO:0045663)	3.38818677
61	neuronal action potential propagation (GO:0019227)	3.33392091
62	regulation of coenzyme metabolic process (GO:0051196)	3.33096828
63	regulation of cofactor metabolic process (GO:0051193)	3.33096828
64	heart contraction (GO:0060047)	3.33055723
65	heart process (GO:0003015)	3.33055723
66	regulation of calcium ion transmembrane transport (GO:1903169)	3.32359974
67	regulation of calcium ion transmembrane transporter activity (GO:1901019)	3.32359974
68	muscle cell cellular homeostasis (GO:0046716)	3.28588816
69	negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)	3.27273911
70	carnitine transmembrane transport (GO:1902603)	3.26533634
71	negative regulation of muscle hypertrophy (GO:0014741)	3.25537293
72	myotube differentiation (GO:0014902)	3.20457266
73	neuromuscular synaptic transmission (GO:0007274)	3.19967539
74	negative regulation of protein localization to cell surface (GO:2000009)	3.14781427
75	positive regulation of calcium ion transmembrane transporter activity (GO:1901021)	3.12916265
76	regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)	3.11961992
77	positive regulation of cation channel activity (GO:2001259)	3.09188807
78	positive regulation of myotube differentiation (GO:0010831)	3.09023474
79	regulation of sarcomere organization (GO:0060297)	3.07559414
80	negative regulation of skeletal muscle tissue development (GO:0048642)	3.07250073
81	negative regulation of muscle contraction (GO:0045932)	3.06177779
82	regulation of skeletal muscle fiber development (GO:0048742)	3.06033342
83	cardiac muscle cell development (GO:0055013)	3.01690346
84	regulation of striated muscle contraction (GO:0006942)	2.97907301
85	striated muscle hypertrophy (GO:0014897)	2.95602237
86	muscle cell development (GO:0055001)	2.94293627
87	tricarboxylic acid cycle (GO:0006099)	2.89905754
88	carnitine transport (GO:0015879)	2.88894492
89	amino-acid betaine transport (GO:0015838)	2.88894492
90	striated muscle tissue development (GO:0014706)	2.87357841
91	DNA demethylation (GO:0080111)	2.84796768
92	muscle hypertrophy (GO:0014896)	2.84440041
93	cytoplasmic microtubule organization (GO:0031122)	2.82759261
94	actin-myosin filament sliding (GO:0033275)	13.5530961
95	muscle filament sliding (GO:0030049)	13.5530961
96	skeletal muscle contraction (GO:0003009)	11.2664617
97	actin-mediated cell contraction (GO:0070252)	11.2333219
98	regulation of skeletal muscle contraction (GO:0014819)	11.2085069
99	sarcoplasmic reticulum calcium ion transport (GO:0070296)	10.3106395
100	plasma membrane repair (GO:0001778)	10.2011502

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	CDX2_19796622_ChIP-Seq_MESCs_Mouse	3.10185844
2	ESR1_20079471_ChIP-ChIP_T-47D_Human	2.73762767
3	TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse	2.62950278
4	TBX20_22080862_ChIP-Seq_HEART_Mouse	2.52938985
5	TBX20_22328084_ChIP-Seq_HEART_Mouse	2.52938985
6	AR_21572438_ChIP-Seq_LNCaP_Human	2.41070172
7	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.29319732
8	NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse	2.14070212
9	MEF2A_21415370_ChIP-Seq_HL-1_Mouse	2.13458154
10	BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human	2.07892356
11	Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse	2.07162210
12	IRF8_22096565_ChIP-ChIP_GC-B_Human	2.06300296
13	BP1_19119308_ChIP-ChIP_Hs578T_Human	10.2872297
14	BCL3_23251550_ChIP-Seq_MUSCLE_Mouse	1.94362312
15	SMAD_19615063_ChIP-ChIP_OVARY_Human	1.85929421
16	ESR1_21235772_ChIP-Seq_MCF-7_Human	1.75987176
17	EP300_21415370_ChIP-Seq_HL-1_Mouse	1.68667347
18	GATA1_22025678_ChIP-Seq_K562_Human	1.62859052
19	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.57116593
20	CJUN_26792858_Chip-Seq_BT549_Human	1.54608483
21	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.52849193
22	RARG_19884340_ChIP-ChIP_MEFs_Mouse	1.49491976
23	NKX2-5_21415370_ChIP-Seq_HL-1_Mouse	1.48677489
24	PPARG_19300518_ChIP-PET_3T3-L1_Mouse	1.48156001
25	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.47475545
26	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.43137481
27	ESRRB_18555785_ChIP-Seq_MESCs_Mouse	1.40115630
28	TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	1.38907650
29	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.35372405
30	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.35271163
31	PPAR_26484153_Chip-Seq_NCI-H1993_Human	1.31143261
32	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.30662079
33	STAT6_20620947_ChIP-Seq_CD4_POS_T_Human	1.30309362
34	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.29715065
35	OCT4_21477851_ChIP-Seq_ESCs_Mouse	1.28771236
36	THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse	1.27817309
37	FOXP3_17237761_ChIP-ChIP_TREG_Mouse	1.26589515
38	STAT3_20064451_ChIP-Seq_CD4+T_Mouse	1.26022625
39	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.24851950
40	ER_23166858_ChIP-Seq_MCF-7_Human	1.23304820
41	GATA4_21415370_ChIP-Seq_HL-1_Mouse	1.23283454
42	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	1.23104962
43	NFIB_24661679_ChIP-Seq_LUNG_Mouse	1.20098735
44	FUS_26573619_Chip-Seq_HEK293_Human	1.19380559
45	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.17863848
46	CTCF_21964334_ChIP-Seq_BJAB-B_Human	1.17289482
47	VDR_24787735_ChIP-Seq_THP-1_Human	1.17271756
48	NR1I2_20693526_ChIP-Seq_LIVER_Mouse	1.16689170
49	NRF2_20460467_ChIP-Seq_MEFs_Mouse	1.16549899
50	NFE2L2_20460467_ChIP-Seq_MEFs_Mouse	1.16549899
51	CBP_20019798_ChIP-Seq_JUKART_Human	1.15641394
52	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.15641394
53	ESR2_21235772_ChIP-Seq_MCF-7_Human	1.15185848
54	SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse	1.14943515
55	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.14784924
56	FOXA1_26743006_Chip-Seq_LNCaP-abl_Human	1.14500838
57	DROSHA_22980978_ChIP-Seq_HELA_Human	1.14264204
58	ZNF274_21170338_ChIP-Seq_K562_Hela	1.14068028
59	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	1.11060047
60	PPARD_23208498_ChIP-Seq_MDA-MB-231_Human	1.10734971
61	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.07127068
62	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.06706356
63	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.02455358
64	IRF1_21803131_ChIP-Seq_MONOCYTES_Human	1.00161730
65	HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse	1.00130586
66	TP53_18474530_ChIP-ChIP_U2OS_Human	0.99119755
67	POU3F2_20337985_ChIP-ChIP_501MEL_Human	0.99043516
68	ATF3_23680149_ChIP-Seq_GBM1-GSC_Human	0.96858910
69	IRF8_21731497_ChIP-ChIP_J774_Mouse	0.95606369
70	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	0.95462563
71	TCF7_22412390_ChIP-Seq_EML_Mouse	0.94747975
72	FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse	0.93828276
73	NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse	0.93824900
74	IRF8_27001747_Chip-Seq_BMDM_Mouse	0.93725433
75	ESR1_22446102_ChIP-Seq_UTERUS_Mouse	0.92804983
76	AR_21915096_ChIP-Seq_LNCaP-1F5_Human	0.91134874
77	MAF_26560356_Chip-Seq_TH1_Human	0.90361458
78	TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse	0.89873492
79	VDR_22108803_ChIP-Seq_LS180_Human	0.88756805
80	GATA6_21074721_ChIP-Seq_CACO-2_Human	0.86784255
81	TFAP2C_20629094_ChIP-Seq_MCF-7_Human	0.86499392
82	GATA6_21074721_ChIP-Seq_CACO-2_Mouse	0.85027104
83	GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse	0.84437724
84	SPI1_23127762_ChIP-Seq_K562_Human	0.83796527
85	HIF1A_21447827_ChIP-Seq_MCF-7_Human	0.83390411
86	CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse	0.82813582
87	CREB1_26743006_Chip-Seq_LNCaP-abl_Human	0.82215615
88	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	0.82181168
89	RXR_22108803_ChIP-Seq_LS180_Human	0.82090514
90	FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human	0.81763960
91	SOX2_21211035_ChIP-Seq_LN229_Gbm	0.81138447
92	RUNX2_24764292_ChIP-Seq_MC3T3_Mouse	0.80848270
93	BRD4_27068464_Chip-Seq_AML-cells_Mouse	0.80189230
94	TDRD3_21172665_ChIP-Seq_MCF-7_Human	0.79369158
95	CBP_21632823_ChIP-Seq_H3396_Human	0.78860433
96	KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human	0.78781426
97	OCT4_20526341_ChIP-Seq_ESCs_Human	0.77619056
98	SCL_19346495_ChIP-Seq_HPC-7_Human	0.76936184
99	FOXM1_26456572_ChIP-Seq_MCF-7_Human	0.76585037
100	CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse	0.76397541

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0004145_abnormal_muscle_electrophysio	7.62053921
2	MP0000749_muscle_degeneration	6.59495168
3	MP0003646_muscle_fatigue	6.59087887
4	MP0000751_myopathy	5.81628869
5	MP0000747_muscle_weakness	4.27763870
6	MP0002106_abnormal_muscle_physiology	4.13933078
7	MP0000759_abnormal_skeletal_muscle	3.76172015
8	MP0004036_abnormal_muscle_relaxation	3.64771937
9	MP0004087_abnormal_muscle_fiber	3.49165639
10	MP0005369_muscle_phenotype	3.43093421
11	MP0002269_muscular_atrophy	3.41424353
12	MP0004130_abnormal_muscle_cell	3.27563171
13	MP0000750_abnormal_muscle_regeneration	3.27291065
14	MP0002837_dystrophic_cardiac_calcinosis	3.24379300
15	MP0005620_abnormal_muscle_contractility	3.04717669
16	MP0002332_abnormal_exercise_endurance	2.37132632
17	MP0000733_abnormal_muscle_development	2.28652462
18	MP0004233_abnormal_muscle_weight	2.15567701
19	MP0005330_cardiomyopathy	2.10516462
20	MP0004185_abnormal_adipocyte_glucose	2.00587934
21	MP0002108_abnormal_muscle_morphology	1.97249587
22	MP0004484_altered_response_of	1.82247027
23	MP0005666_abnormal_adipose_tissue	1.73563638
24	MP0004084_abnormal_cardiac_muscle	1.50013427
25	MP0004215_abnormal_myocardial_fiber	1.49954376
26	MP0006036_abnormal_mitochondrial_physio	1.49459505
27	MP0002972_abnormal_cardiac_muscle	1.43028091
28	MP0003828_pulmonary_edema	1.42851519
29	MP0010630_abnormal_cardiac_muscle	1.42781885
30	MP0003221_abnormal_cardiomyocyte_apopto	1.37001407
31	MP0003950_abnormal_plasma_membrane	1.36365807
32	MP0002971_abnormal_brown_adipose	1.31132281
33	MP0004270_analgesia	1.25962350
34	MP0005375_adipose_tissue_phenotype	1.17425686
35	MP0005670_abnormal_white_adipose	1.01311692
36	MP0001544_abnormal_cardiovascular_syste	0.95286340
37	MP0005385_cardiovascular_system_phenoty	0.95286340
38	MP0001299_abnormal_eye_distance/	0.87484209
39	MP0004510_myositis	0.86593053
40	MP0005266_abnormal_metabolism	0.85906453
41	MP0000013_abnormal_adipose_tissue	0.82670128
42	MP0004147_increased_porphyrin_level	0.78633175
43	MP0005083_abnormal_biliary_tract	0.77429533
44	MP0003045_fibrosis	0.76971668
45	MP0006035_abnormal_mitochondrial_morpho	0.75050478
46	MP0003137_abnormal_impulse_conducting	0.72599003
47	MP0000372_irregular_coat_pigmentation	0.72280027
48	MP0004134_abnormal_chest_morphology	0.71490312
49	MP0003724_increased_susceptibility_to	0.66990335
50	MP0008961_abnormal_basal_metabolism	0.66871927
51	MP0001853_heart_inflammation	0.61324082
52	MP0000343_altered_response_to	0.59795436
53	MP0005076_abnormal_cell_differentiation	0.59725306
54	MP0000266_abnormal_heart_morphology	0.58535318
55	MP0003436_decreased_susceptibility_to	0.58481283
56	MP0004043_abnormal_pH_regulation	0.57670464
57	MP0005334_abnormal_fat_pad	0.56546997
58	MP0002078_abnormal_glucose_homeostasis	0.54781807
59	MP0008775_abnormal_heart_ventricle	0.52531415
60	MP0002127_abnormal_cardiovascular_syste	0.51533961
61	MP0000003_abnormal_adipose_tissue	0.51353013
62	MP0003705_abnormal_hypodermis_morpholog	0.46831333
63	MP0000383_abnormal_hair_follicle	0.45958284
64	MP0005166_decreased_susceptibility_to	0.44666013
65	MP0009250_abnormal_appendicular_skeleto	0.43774277
66	MP0000569_abnormal_digit_pigmentation	0.43088349
67	MP0002148_abnormal_hypersensitivity_rea	0.41239182
68	MP0002896_abnormal_bone_mineralization	0.40064857
69	MP0009672_abnormal_birth_weight	0.40061231
70	MP0004782_abnormal_surfactant_physiolog	0.37235416
71	MP0002933_joint_inflammation	0.36708320
72	MP0009115_abnormal_fat_cell	0.36369972
73	MP0001958_emphysema	0.35141393
74	MP0003195_calcinosis	0.34517440
75	MP0005452_abnormal_adipose_tissue	0.34308124
76	MP0003948_abnormal_gas_homeostasis	0.34121947
77	MP0002163_abnormal_gland_morphology	0.33433340
78	MP0004197_abnormal_fetal_growth/weight/	0.32258335
79	MP0001790_abnormal_immune_system	0.31918025
80	MP0005387_immune_system_phenotype	0.31918025
81	MP0000762_abnormal_tongue_morphology	0.31903307
82	MP0005584_abnormal_enzyme/coenzyme_acti	0.29931102
83	MP0001243_abnormal_dermal_layer	0.29686957
84	MP0002277_abnormal_respiratory_mucosa	0.28963177
85	MP0002234_abnormal_pharynx_morphology	0.28942728
86	MP0003567_abnormal_fetal_cardiomyocyte	0.28765971
87	MP0003656_abnormal_erythrocyte_physiolo	0.27318585
88	MP0001879_abnormal_lymphatic_vessel	0.25103252
89	MP0006138_congestive_heart_failure	0.24903720
90	MP0003959_abnormal_lean_body	0.24821421
91	MP0000249_abnormal_blood_vessel	0.23168066
92	MP0005376_homeostasis/metabolism_phenot	0.22830544
93	MP0002128_abnormal_blood_circulation	0.22716450
94	MP0002114_abnormal_axial_skeleton	0.22612745
95	MP0001533_abnormal_skeleton_physiology	0.21996358
96	MP0002133_abnormal_respiratory_system	0.20917108
97	MP0005388_respiratory_system_phenotype	0.20917108
98	MP0001943_abnormal_respiration	0.20084755
99	MP0000685_abnormal_immune_system	0.19645112
100	MP0000230_abnormal_systemic_arterial	0.19567188

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Type 1 muscle fiber predominance (HP:0003803)	9.00108820
2	Exercise-induced myalgia (HP:0003738)	7.47010304
3	Distal arthrogryposis (HP:0005684)	7.09803026
4	Muscle hypertrophy of the lower extremities (HP:0008968)	6.81836924
5	Exercise-induced muscle cramps (HP:0003710)	6.79480863
6	Myopathic facies (HP:0002058)	6.57451957
7	Calf muscle hypertrophy (HP:0008981)	6.15223711
8	Round ear (HP:0100830)	5.54445642
9	Ulnar deviation of the wrist (HP:0003049)	5.43095965
10	Difficulty running (HP:0009046)	4.86272715
11	Muscle fiber splitting (HP:0003555)	4.82009324
12	Calcaneovalgus deformity (HP:0001848)	4.73526237
13	EMG: myopathic abnormalities (HP:0003458)	4.56678654
14	Muscle stiffness (HP:0003552)	4.45958482
15	Hyporeflexia of lower limbs (HP:0002600)	4.45067262
16	Absent phalangeal crease (HP:0006109)	4.32434338
17	Deformed tarsal bones (HP:0008119)	4.25292322
18	Myoglobinuria (HP:0002913)	4.11552171
19	Abnormality of the calf musculature (HP:0001430)	4.10621095
20	Increased connective tissue (HP:0009025)	3.94539289
21	Neck muscle weakness (HP:0000467)	3.92950927
22	Rimmed vacuoles (HP:0003805)	3.83151694
23	Myotonia (HP:0002486)	3.80359490
24	Abnormality of skeletal muscle fiber size (HP:0012084)	3.77255361
25	Frequent falls (HP:0002359)	3.68850123
26	Abnormal finger flexion creases (HP:0006143)	3.61932938
27	Rhabdomyolysis (HP:0003201)	3.60779528
28	Abnormality of the left ventricular outflow tract (HP:0011103)	3.48238382
29	Subaortic stenosis (HP:0001682)	3.48238382
30	Pelvic girdle muscle weakness (HP:0003749)	3.38681981
31	Shoulder girdle muscle weakness (HP:0003547)	3.24642505
32	Abnormality of the hip-girdle musculature (HP:0001445)	3.19222621
33	Abnormality of the musculature of the pelvis (HP:0001469)	3.19222621
34	Malignant hyperthermia (HP:0002047)	3.14589318
35	Areflexia of lower limbs (HP:0002522)	3.10572641
36	Increased variability in muscle fiber diameter (HP:0003557)	3.05473289
37	Difficulty climbing stairs (HP:0003551)	2.88526791
38	Abnormality of the calcaneus (HP:0008364)	2.87403744
39	Asymmetric septal hypertrophy (HP:0001670)	2.81754238
40	Distal lower limb muscle weakness (HP:0009053)	2.78994721
41	Hyperkalemia (HP:0002153)	2.77520501
42	Progressive muscle weakness (HP:0003323)	2.69173100
43	Centrally nucleated skeletal muscle fibers (HP:0003687)	2.68790670
44	Hip contracture (HP:0003273)	2.59249220
45	EMG: neuropathic changes (HP:0003445)	2.57763515
46	Proximal amyotrophy (HP:0007126)	2.56906814
47	Slender build (HP:0001533)	2.54746666
48	Facial diplegia (HP:0001349)	2.53297510
49	Sudden death (HP:0001699)	2.48074967
50	Scapular winging (HP:0003691)	2.46425989
51	Distal lower limb amyotrophy (HP:0008944)	2.45801618
52	Spinal rigidity (HP:0003306)	2.38412556
53	Abnormality of the shoulder girdle musculature (HP:0001435)	2.30237547
54	Mildly elevated creatine phosphokinase (HP:0008180)	2.30037790
55	Generalized muscle weakness (HP:0003324)	2.29734842
56	Weak cry (HP:0001612)	2.25762968
57	Muscular dystrophy (HP:0003560)	2.22855136
58	Abnormality of the neuromuscular junction (HP:0003398)	2.19706675
59	Fatigable weakness (HP:0003473)	2.19706675
60	Hypoplastic ischia (HP:0003175)	2.19675306
61	Limb-girdle muscle weakness (HP:0003325)	2.17698031
62	Bulbar palsy (HP:0001283)	2.12032872
63	Paralysis (HP:0003470)	2.11615690
64	Ulnar deviation of finger (HP:0009465)	2.04017034
65	Gowers sign (HP:0003391)	2.03034757
66	Muscle fiber inclusion bodies (HP:0100299)	12.5756414
67	Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)	11.4090162
68	Nemaline bodies (HP:0003798)	11.2091140
69	Abnormality of the ischium (HP:0003174)	1.94744373
70	Waddling gait (HP:0002515)	1.91058549
71	Lower limb amyotrophy (HP:0007210)	1.90622536
72	Limited hip movement (HP:0008800)	1.83998045
73	Nonprogressive disorder (HP:0003680)	1.82776617
74	Limb-girdle muscle atrophy (HP:0003797)	1.82218392
75	Aplasia/Hypoplasia of the pubic bone (HP:0009104)	1.76953615
76	Metatarsus adductus (HP:0001840)	1.70935904
77	Congenital hip dislocation (HP:0001374)	1.66090547
78	Ulnar deviation of the hand or of fingers of the hand (HP:0001193)	1.64391193
79	Stridor (HP:0010307)	1.60578378
80	Fetal akinesia sequence (HP:0001989)	1.58379323
81	Ventricular tachycardia (HP:0004756)	1.55037169
82	Tarsal synostosis (HP:0008368)	1.52202377
83	Lipoatrophy (HP:0100578)	1.51889715
84	Increased density of long bones (HP:0006392)	1.48860963
85	Dilated cardiomyopathy (HP:0001644)	1.46926697
86	Long clavicles (HP:0000890)	1.44858035
87	Abnormality of the foot musculature (HP:0001436)	1.44283442
88	Achilles tendon contracture (HP:0001771)	1.42691275
89	Respiratory insufficiency due to muscle weakness (HP:0002747)	1.40519544
90	Increased purine levels (HP:0004368)	1.40426088
91	Hyperuricemia (HP:0002149)	1.40426088
92	Synostosis involving bones of the lower limbs (HP:0009138)	1.36418926
93	Synostosis involving bones of the feet (HP:0009140)	1.36418926
94	Foot dorsiflexor weakness (HP:0009027)	1.34922709
95	Short palpebral fissure (HP:0012745)	1.30427322
96	Gout (HP:0001997)	1.29232263
97	Oligomenorrhea (HP:0000876)	1.28426542
98	Abnormality of potassium homeostasis (HP:0011042)	1.28421093
99	Abnormality of the Achilles tendon (HP:0005109)	1.26446563
100	Adducted thumb (HP:0001181)	1.25573572

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	TTN	5.50230798
2	PIK3CG	4.48123963
3	PHKG1	3.61237919
4	PHKG2	3.61237919
5	NME1	2.81846658
6	MAP2K3	2.78483418
7	MAP3K7	2.02556713
8	OBSCN	12.1942784
9	DMPK	1.96443923
10	PINK1	1.74710260
11	NEK1	1.49065487
12	MAP3K3	1.46125660
13	MAPK12	1.41751471
14	ZAK	1.21819027
15	MAP2K4	1.18803982
16	PIK3CA	1.18787316
17	PDK4	1.16348510
18	PDK3	1.16348510
19	MUSK	1.07529339
20	PDK2	0.97613053
21	TAOK2	0.96067312
22	NEK9	0.79591305
23	MAP2K6	0.73160249
24	ERBB3	0.70975971
25	STK24	0.68268476
26	PRKAA2	0.62681873
27	TAOK1	0.62274607
28	RIPK1	0.62111546
29	ACVR1B	0.60856121
30	AKT2	0.58784609
31	PRKAA1	0.57224344
32	MAP3K14	0.52921351
33	MARK3	0.50809492
34	MAP3K11	0.48758286
35	FLT3	0.48357436
36	TXK	0.47364133
37	TRPM7	0.44662295
38	TYK2	0.44108291
39	INSRR	0.43784903
40	MAPK11	0.42803008
41	PKN1	0.42773739
42	SGK1	0.41655406
43	PKN2	0.39685779
44	MAPK7	0.38940085
45	BCKDK	0.37924152
46	RIPK4	0.37526629
47	CAMK2G	0.34612988
48	PTK6	0.28781346
49	MAP3K6	0.27797855
50	TRIB3	0.27452172
51	EIF2AK2	0.26275323
52	CAMK1G	0.26247490
53	CAMK1D	0.26228421
54	PRKG1	0.24534621
55	SIK1	0.23833163
56	HCK	0.22989743
57	ROCK1	0.22189129
58	ZAP70	0.20829145
59	SGK3	0.20715252
60	JAK1	0.20560960
61	JAK3	0.20487913
62	MAP3K5	0.19731120
63	LATS1	0.19632575
64	LIMK1	0.18747764
65	MAP3K4	0.18373444
66	JAK2	0.17207390
67	SGK2	0.16780632
68	CDK12	0.16756287
69	MAPK4	0.15838661
70	EPHB1	0.15569487
71	RPS6KA3	0.15260561
72	MAP3K13	0.15146382
73	CCNB1	0.14672059
74	TGFBR2	0.14238679
75	MELK	0.13158448
76	MAPK10	0.12767703
77	MAPKAPK3	0.12517767
78	MST1R	0.12106169
79	TBK1	0.12076096
80	IRAK3	0.11913986
81	FGFR1	0.10596073
82	PRKACB	0.10277228
83	YES1	0.10057459
84	WNK1	0.10056084
85	CSK	0.09147093
86	CAMK2D	0.08877320
87	IRAK4	0.08847219
88	STK3	0.07997752
89	IKBKB	0.07954775
90	GSK3A	0.07572240
91	PDK1	0.07564600
92	BMPR1B	0.07319280
93	MAPK8	0.06735640
94	PRKDC	0.06690208
95	PRKACA	0.06615393
96	PRKCQ	0.05861926
97	BRD4	0.05463848
98	FGFR3	0.03686157
99	CDK6	0.03507129
100	CHUK	0.03153715

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	4.80392093
2	Dilated cardiomyopathy_Homo sapiens_hsa05414	3.93964244
3	Cardiac muscle contraction_Homo sapiens_hsa04260	3.70773799
4	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	3.54723199
5	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	3.54316041
6	Starch and sucrose metabolism_Homo sapiens_hsa00500	2.79604156
7	Viral myocarditis_Homo sapiens_hsa05416	2.49283261
8	Circadian rhythm_Homo sapiens_hsa04710	2.23476371
9	Insulin resistance_Homo sapiens_hsa04931	2.20729528
10	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	2.20003000
11	Oxytocin signaling pathway_Homo sapiens_hsa04921	2.18162486
12	Insulin signaling pathway_Homo sapiens_hsa04910	2.16297631
13	Glucagon signaling pathway_Homo sapiens_hsa04922	2.09545181
14	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	1.75537871
15	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	1.75193111
16	Adipocytokine signaling pathway_Homo sapiens_hsa04920	1.73909282
17	Propanoate metabolism_Homo sapiens_hsa00640	1.63806916
18	AMPK signaling pathway_Homo sapiens_hsa04152	1.46661719
19	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.43308504
20	Carbon metabolism_Homo sapiens_hsa01200	1.42978426
21	Calcium signaling pathway_Homo sapiens_hsa04020	1.42967766
22	Leishmaniasis_Homo sapiens_hsa05140	1.37287362
23	FoxO signaling pathway_Homo sapiens_hsa04068	1.28475413
24	Parkinsons disease_Homo sapiens_hsa05012	1.20145354
25	Alzheimers disease_Homo sapiens_hsa05010	1.19189513
26	Tight junction_Homo sapiens_hsa04530	1.15665031
27	Longevity regulating pathway - multiple species_Homo sapiens_hsa04213	1.14603733
28	Type II diabetes mellitus_Homo sapiens_hsa04930	1.13753501
29	Focal adhesion_Homo sapiens_hsa04510	1.12585580
30	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	1.10833878
31	Toll-like receptor signaling pathway_Homo sapiens_hsa04620	1.10728574
32	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	1.07309437
33	Vascular smooth muscle contraction_Homo sapiens_hsa04270	1.04638224
34	Legionellosis_Homo sapiens_hsa05134	1.00295555
35	Leukocyte transendothelial migration_Homo sapiens_hsa04670	0.97875091
36	MAPK signaling pathway_Homo sapiens_hsa04010	0.96422832
37	Galactose metabolism_Homo sapiens_hsa00052	0.96224730
38	Osteoclast differentiation_Homo sapiens_hsa04380	0.95680862
39	Oxidative phosphorylation_Homo sapiens_hsa00190	0.94624163
40	GnRH signaling pathway_Homo sapiens_hsa04912	0.94042836
41	Fatty acid degradation_Homo sapiens_hsa00071	0.94037074
42	HIF-1 signaling pathway_Homo sapiens_hsa04066	0.92420105
43	Toxoplasmosis_Homo sapiens_hsa05145	0.90778967
44	TNF signaling pathway_Homo sapiens_hsa04668	0.86470342
45	Fc epsilon RI signaling pathway_Homo sapiens_hsa04664	0.86267929
46	Adherens junction_Homo sapiens_hsa04520	0.82552029
47	Central carbon metabolism in cancer_Homo sapiens_hsa05230	0.82214220
48	NOD-like receptor signaling pathway_Homo sapiens_hsa04621	0.80248948
49	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.79432654
50	AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933	0.78977000
51	Proteoglycans in cancer_Homo sapiens_hsa05205	0.78125866
52	Platelet activation_Homo sapiens_hsa04611	0.77906032
53	Fructose and mannose metabolism_Homo sapiens_hsa00051	0.76653970
54	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.76474359
55	Malaria_Homo sapiens_hsa05144	0.75597484
56	Influenza A_Homo sapiens_hsa05164	0.74609480
57	NF-kappa B signaling pathway_Homo sapiens_hsa04064	0.74570872
58	Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524	0.72722220
59	Pertussis_Homo sapiens_hsa05133	0.68545036
60	Regulation of actin cytoskeleton_Homo sapiens_hsa04810	0.67336332
61	T cell receptor signaling pathway_Homo sapiens_hsa04660	0.65777877
62	RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622	0.63574223
63	Tuberculosis_Homo sapiens_hsa05152	0.62035537
64	VEGF signaling pathway_Homo sapiens_hsa04370	0.61513173
65	Longevity regulating pathway - mammal_Homo sapiens_hsa04211	0.61288200
66	mTOR signaling pathway_Homo sapiens_hsa04150	0.60989439
67	Amoebiasis_Homo sapiens_hsa05146	0.60130903
68	Arginine and proline metabolism_Homo sapiens_hsa00330	0.59079252
69	Measles_Homo sapiens_hsa05162	0.59039178
70	Salmonella infection_Homo sapiens_hsa05132	0.58236815
71	Renal cell carcinoma_Homo sapiens_hsa05211	0.57716758
72	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.56802170
73	Lysine degradation_Homo sapiens_hsa00310	0.54797384
74	Huntingtons disease_Homo sapiens_hsa05016	0.53486083
75	Prolactin signaling pathway_Homo sapiens_hsa04917	0.52124590
76	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.51411575
77	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.48719272
78	Jak-STAT signaling pathway_Homo sapiens_hsa04630	0.44860210
79	Apoptosis_Homo sapiens_hsa04210	0.40508175
80	Chagas disease (American trypanosomiasis)_Homo sapiens_hsa05142	0.38325501
81	Chronic myeloid leukemia_Homo sapiens_hsa05220	0.37841784
82	Acute myeloid leukemia_Homo sapiens_hsa05221	0.37814105
83	B cell receptor signaling pathway_Homo sapiens_hsa04662	0.34768015
84	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.34380495
85	Gastric acid secretion_Homo sapiens_hsa04971	0.33350359
86	Renin secretion_Homo sapiens_hsa04924	0.33152010
87	Hepatitis C_Homo sapiens_hsa05160	0.32373139
88	Insulin secretion_Homo sapiens_hsa04911	0.32146873
89	Neurotrophin signaling pathway_Homo sapiens_hsa04722	0.31384092
90	Pentose phosphate pathway_Homo sapiens_hsa00030	0.29909670
91	Staphylococcus aureus infection_Homo sapiens_hsa05150	0.29134336
92	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.26349248
93	HTLV-I infection_Homo sapiens_hsa05166	0.26012270
94	Phagosome_Homo sapiens_hsa04145	0.25944212
95	ErbB signaling pathway_Homo sapiens_hsa04012	0.25876385
96	Herpes simplex infection_Homo sapiens_hsa05168	0.24603769
97	MicroRNAs in cancer_Homo sapiens_hsa05206	0.21573686
98	Pyruvate metabolism_Homo sapiens_hsa00620	0.21452350
99	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.20819074
100	Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666	0.20556657

METTL21C

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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