ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	regulation of relaxation of muscle (GO:1901077)	8.29939578
2	actin filament-based movement (GO:0030048)	7.80768499
3	creatine metabolic process (GO:0006600)	7.73947677
4	striated muscle contraction (GO:0006941)	7.52530823
5	response to muscle activity (GO:0014850)	7.43055628
6	myofibril assembly (GO:0030239)	7.40879560
7	positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)	7.29689043
8	response to stimulus involved in regulation of muscle adaptation (GO:0014874)	6.94837058
9	skeletal muscle fiber development (GO:0048741)	6.84145449
10	sarcomere organization (GO:0045214)	6.72835900
11	regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	6.42186377
12	myotube cell development (GO:0014904)	6.16668944
13	glycogen catabolic process (GO:0005980)	6.13897083
14	skeletal muscle adaptation (GO:0043501)	6.12230412
15	response to inactivity (GO:0014854)	6.05836294
16	plasma membrane repair (GO:0001778)	5.83598267
17	muscle contraction (GO:0006936)	5.83118222
18	glucan catabolic process (GO:0009251)	5.77850209
19	cardiac myofibril assembly (GO:0055003)	5.45890279
20	cellular polysaccharide catabolic process (GO:0044247)	5.42286663
21	glycogen biosynthetic process (GO:0005978)	5.30459791
22	glucan biosynthetic process (GO:0009250)	5.30459791
23	cardiac muscle contraction (GO:0060048)	5.28678648
24	muscle system process (GO:0003012)	5.19236217
25	NADH metabolic process (GO:0006734)	5.18646715
26	actomyosin structure organization (GO:0031032)	5.16549343
27	regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	5.11545989
28	regulation of cell communication by electrical coupling (GO:0010649)	5.11229606
29	muscle fiber development (GO:0048747)	5.06491212
30	regulation of actin filament-based movement (GO:1903115)	4.93496662
31	skeletal muscle tissue development (GO:0007519)	4.89482911
32	polysaccharide catabolic process (GO:0000272)	4.88800093
33	negative regulation of potassium ion transmembrane transporter activity (GO:1901017)	4.81863661
34	skeletal muscle tissue regeneration (GO:0043403)	4.71830987
35	striated muscle adaptation (GO:0014888)	4.53676561
36	fructose metabolic process (GO:0006000)	4.50783534
37	cardiac muscle hypertrophy (GO:0003300)	4.47273266
38	2-oxoglutarate metabolic process (GO:0006103)	4.37293481
39	muscle organ morphogenesis (GO:0048644)	4.36498017
40	glycogen metabolic process (GO:0005977)	4.31172416
41	muscle cell cellular homeostasis (GO:0046716)	4.29985106
42	striated muscle hypertrophy (GO:0014897)	4.27188451
43	negative regulation of potassium ion transmembrane transport (GO:1901380)	4.25173198
44	glucan metabolic process (GO:0044042)	4.22802984
45	cellular glucan metabolic process (GO:0006073)	4.22802984
46	response to activity (GO:0014823)	4.16022294
47	IMP metabolic process (GO:0046040)	4.14172186
48	gluconeogenesis (GO:0006094)	4.10541408
49	muscle cell fate commitment (GO:0042693)	4.07986475
50	positive regulation of myotube differentiation (GO:0010831)	4.01500442
51	tricarboxylic acid cycle (GO:0006099)	3.96562755
52	muscle structure development (GO:0061061)	3.92081452
53	muscle organ development (GO:0007517)	3.91003748
54	muscle tissue morphogenesis (GO:0060415)	3.90710302
55	regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)	3.88652892
56	striated muscle atrophy (GO:0014891)	3.88114944
57	positive regulation of calcium ion transmembrane transporter activity (GO:1901021)	3.87820551
58	striated muscle cell development (GO:0055002)	3.86086611
59	carnitine shuttle (GO:0006853)	3.80692770
60	muscle hypertrophy (GO:0014896)	3.80269790
61	regulation of striated muscle contraction (GO:0006942)	3.76688638
62	positive regulation of mitochondrial calcium ion concentration (GO:0051561)	3.75296843
63	regulation of calcium ion transmembrane transport (GO:1903169)	3.70707935
64	regulation of calcium ion transmembrane transporter activity (GO:1901019)	3.70707935
65	adult heart development (GO:0007512)	3.69092613
66	hexose biosynthetic process (GO:0019319)	3.67438556
67	muscle adaptation (GO:0043500)	3.67158839
68	cardiac muscle tissue morphogenesis (GO:0055008)	3.66301598
69	negative regulation of calcium ion transmembrane transporter activity (GO:1901020)	3.64963410
70	negative regulation of calcium ion transmembrane transport (GO:1903170)	3.64963410
71	myotube differentiation (GO:0014902)	3.57891845
72	regulation of calcineurin-NFAT signaling cascade (GO:0070884)	3.57811687
73	neuronal action potential propagation (GO:0019227)	3.56470701
74	myoblast fusion (GO:0007520)	3.53148949
75	muscle atrophy (GO:0014889)	3.52865517
76	cellular carbohydrate catabolic process (GO:0044275)	3.52481950
77	negative regulation of muscle contraction (GO:0045932)	3.51488334
78	ubiquinone biosynthetic process (GO:0006744)	3.47076063
79	cardiac muscle cell development (GO:0055013)	3.41978531
80	succinate metabolic process (GO:0006105)	3.41609971
81	regulation of skeletal muscle cell differentiation (GO:2001014)	3.38460419
82	cardiac muscle adaptation (GO:0014887)	3.35538196
83	cardiac muscle hypertrophy in response to stress (GO:0014898)	3.35538196
84	muscle hypertrophy in response to stress (GO:0003299)	3.35538196
85	muscle cell development (GO:0055001)	3.31117699
86	striated muscle tissue development (GO:0014706)	3.29099428
87	AMP metabolic process (GO:0046033)	3.28498002
88	oxaloacetate metabolic process (GO:0006107)	3.28221237
89	heart process (GO:0003015)	3.27824734
90	heart contraction (GO:0060047)	3.27824734
91	relaxation of muscle (GO:0090075)	3.27097558
92	positive regulation of cation channel activity (GO:2001259)	3.26801171
93	neuromuscular synaptic transmission (GO:0007274)	3.22332284
94	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO	3.21558759
95	muscle filament sliding (GO:0030049)	12.8713403
96	actin-myosin filament sliding (GO:0033275)	12.8713403
97	sarcoplasmic reticulum calcium ion transport (GO:0070296)	11.9930593
98	skeletal muscle contraction (GO:0003009)	10.5946591
99	actin-mediated cell contraction (GO:0070252)	10.5455086
100	regulation of skeletal muscle contraction (GO:0014819)	10.2581138

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	BP1_19119308_ChIP-ChIP_Hs578T_Human	7.90738053
2	EZH2_22144423_ChIP-Seq_EOC_Human	4.64901022
3	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	4.64899612
4	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	3.81602061
5	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	3.80038928
6	ESRRB_18555785_ChIP-Seq_MESCs_Mouse	3.32625857
7	TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse	3.10599968
8	TBX20_22080862_ChIP-Seq_HEART_Mouse	3.08604369
9	TBX20_22328084_ChIP-Seq_HEART_Mouse	3.08604369
10	BCL3_23251550_ChIP-Seq_MUSCLE_Mouse	2.98675690
11	ESR1_20079471_ChIP-ChIP_T-47D_Human	2.98572359
12	PPARG_19300518_ChIP-PET_3T3-L1_Mouse	2.87984150
13	CDX2_19796622_ChIP-Seq_MESCs_Mouse	2.52989670
14	MEF2A_21415370_ChIP-Seq_HL-1_Mouse	2.36725283
15	PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse	2.27424730
16	EP300_21415370_ChIP-Seq_HL-1_Mouse	2.20990953
17	RBPJ_22232070_ChIP-Seq_NCS_Mouse	2.14017211
18	ZNF263_19887448_ChIP-Seq_K562_Human	2.06991150
19	CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human	2.05370740
20	ESR1_17901129_ChIP-ChIP_LIVER_Mouse	1.96950145
21	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.96454522
22	GATA4_21415370_ChIP-Seq_HL-1_Mouse	1.94162315
23	NKX2-5_21415370_ChIP-Seq_HL-1_Mouse	1.94135299
24	TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.91868756
25	THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse	1.87788035
26	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.67631507
27	ESR2_21235772_ChIP-Seq_MCF-7_Human	1.59561479
28	CTCF_27219007_Chip-Seq_Bcells_Human	1.53335330
29	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.47689625
30	AR_21572438_ChIP-Seq_LNCaP_Human	1.42490360
31	RARG_19884340_ChIP-ChIP_MEFs_Mouse	1.37495565
32	STAT3_19079543_ChIP-ChIP_MESCs_Mouse	1.37031142
33	NFIB_24661679_ChIP-Seq_LUNG_Mouse	1.30129813
34	SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse	1.27437035
35	NR1I2_20693526_ChIP-Seq_LIVER_Mouse	1.26731119
36	RARB_27405468_Chip-Seq_BRAIN_Mouse	1.26123462
37	ZNF652_21678463_ChIP-ChIP_ZR75-1_Human	1.23126095
38	PPARA_22158963_ChIP-Seq_LIVER_Mouse	1.21345054
39	CTCF_21964334_ChIP-Seq_BJAB-B_Human	1.20999967
40	GATA6_21074721_ChIP-Seq_CACO-2_Mouse	1.17483850
41	SMC3_22415368_ChIP-Seq_MEFs_Mouse	1.16479321
42	SPI1_20517297_ChIP-Seq_HL60_Human	1.16202233
43	IGF1R_20145208_ChIP-Seq_DFB_Human	1.15041270
44	RXR_22158963_ChIP-Seq_LIVER_Mouse	1.15029695
45	NR0B1_18358816_ChIP-ChIP_MESCs_Mouse	1.14524098
46	CLOCK_20551151_ChIP-Seq_293T_Human	1.14428089
47	STAT3_1855785_ChIP-Seq_MESCs_Mouse	1.14047503
48	CREB1_26743006_Chip-Seq_LNCaP-abl_Human	1.12131782
49	BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human	1.11294093
50	DROSHA_22980978_ChIP-Seq_HELA_Human	1.10908465
51	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	1.10697223
52	SA1_27219007_Chip-Seq_Bcells_Human	1.10514038
53	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.10134371
54	MYC_27129775_Chip-Seq_CORNEA_Mouse	1.08501032
55	STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse	1.08490949
56	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	1.02891077
57	OCT4_20526341_ChIP-Seq_ESCs_Human	1.02015246
58	STAT1_20625510_ChIP-Seq_HELA_Human	1.01921133
59	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.00909115
60	EZH2_27294783_Chip-Seq_ESCs_Mouse	0.97913586
61	EZH2_27294783_Chip-Seq_NPCs_Mouse	0.92686120
62	MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human	0.92599508
63	CTCF_21964334_Chip-Seq_Bcells_Human	0.92159467
64	LXR_22158963_ChIP-Seq_LIVER_Mouse	0.91907392
65	RUNX2_24764292_ChIP-Seq_MC3T3_Mouse	0.91311997
66	GATA1_19941827_ChIP-Seq_MEL_Mouse	0.91276341
67	GATA6_21074721_ChIP-Seq_CACO-2_Human	0.91145216
68	SUZ12_27294783_Chip-Seq_NPCs_Mouse	0.90741766
69	OCT4_21477851_ChIP-Seq_ESCs_Mouse	0.90488281
70	CTCF_27219007_Chip-Seq_ERYTHROID_Human	0.87868859
71	SREBP1_19666523_ChIP-Seq_LIVER_Mouse	0.87134893
72	EGR1_19032775_ChIP-ChIP_M12_Human	0.85546450
73	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	0.85367292
74	PRDM14_21183938_ChIP-Seq_MESCs_Mouse	0.83401734
75	FOXO1_23066095_ChIP-Seq_LIVER_Mouse	0.83143368
76	KDM2B_26808549_Chip-Seq_DND41_Human	0.81911726
77	CDX2_21074721_ChIP-Seq_CACO-2_Mouse	0.81669047
78	PCGF2_27294783_Chip-Seq_ESCs_Mouse	0.80915833
79	HTT_18923047_ChIP-ChIP_STHdh_Human	0.79984938
80	SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse	0.78509783
81	DPY_21335234_ChIP-Seq_ESCs_Mouse	0.77680764
82	TCF7_22412390_ChIP-Seq_EML_Mouse	0.75203989
83	CTCF_26484167_Chip-Seq_Bcells_Mouse	0.75103812
84	NRF2_20460467_ChIP-Seq_MEFs_Mouse	0.74492549
85	NFE2L2_20460467_ChIP-Seq_MEFs_Mouse	0.74492549
86	LMO2_20887958_ChIP-Seq_HPC-7_Mouse	0.73865901
87	DNAJC2_21179169_ChIP-ChIP_NT2_Human	0.73749692
88	TP53_20018659_ChIP-ChIP_R1E_Mouse	0.73631868
89	RAD21_21589869_ChIP-Seq_MESCs_Mouse	0.73103107
90	ESR1_21235772_ChIP-Seq_MCF-7_Human	0.72983936
91	GATA3_21867929_ChIP-Seq_CD8_Mouse	0.71686582
92	PHF8_20622853_ChIP-Seq_HELA_Human	0.71541688
93	FLI1_27457419_Chip-Seq_LIVER_Mouse	0.71421126
94	ESR1_22446102_ChIP-Seq_UTERUS_Mouse	0.70804597
95	TCF7L2_21901280_ChIP-Seq_H4IIE_Rat	0.70258535
96	ZFP281_18757296_ChIP-ChIP_E14_Mouse	0.69801160
97	KLF5_20875108_ChIP-Seq_MESCs_Mouse	0.69556585
98	ER_23166858_ChIP-Seq_MCF-7_Human	0.69057890
99	GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse	0.68539787
100	LUZP1_20508642_ChIP-Seq_ESCs_Mouse	0.67627596

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003646_muscle_fatigue	7.29921214
2	MP0004145_abnormal_muscle_electrophysio	7.23914169
3	MP0000751_myopathy	5.85633298
4	MP0000749_muscle_degeneration	5.80167832
5	MP0004036_abnormal_muscle_relaxation	4.35016745
6	MP0002106_abnormal_muscle_physiology	3.78615242
7	MP0000747_muscle_weakness	3.60719552
8	MP0005451_abnormal_body_composition	3.57451727
9	MP0000759_abnormal_skeletal_muscle	3.55689084
10	MP0004087_abnormal_muscle_fiber	3.46497485
11	MP0004233_abnormal_muscle_weight	3.21921293
12	MP0005369_muscle_phenotype	3.19959750
13	MP0002332_abnormal_exercise_endurance	3.09489638
14	MP0002269_muscular_atrophy	3.09023236
15	MP0004130_abnormal_muscle_cell	2.98952692
16	MP0004084_abnormal_cardiac_muscle	2.97446381
17	MP0000750_abnormal_muscle_regeneration	2.87415869
18	MP0005620_abnormal_muscle_contractility	2.80222741
19	MP0005330_cardiomyopathy	2.64801810
20	MP0000733_abnormal_muscle_development	2.23339899
21	MP0006036_abnormal_mitochondrial_physio	2.14269363
22	MP0002972_abnormal_cardiac_muscle	2.08013824
23	MP0002108_abnormal_muscle_morphology	1.95156922
24	MP0002837_dystrophic_cardiac_calcinosis	1.86099885
25	MP0000013_abnormal_adipose_tissue	1.69974197
26	MP0004215_abnormal_myocardial_fiber	1.67496277
27	MP0004484_altered_response_of	1.65256046
28	MP0010630_abnormal_cardiac_muscle	1.52777918
29	MP0005266_abnormal_metabolism	1.47910469
30	MP0004270_analgesia	1.40742888
31	MP0006138_congestive_heart_failure	1.40661769
32	MP0002127_abnormal_cardiovascular_syste	1.38706729
33	MP0001544_abnormal_cardiovascular_syste	1.33415446
34	MP0005385_cardiovascular_system_phenoty	1.33415446
35	MP0004510_myositis	1.32454480
36	MP0003221_abnormal_cardiomyocyte_apopto	1.25351902
37	MP0004185_abnormal_adipocyte_glucose	1.22902435
38	MP0002971_abnormal_brown_adipose	1.18168184
39	MP0001661_extended_life_span	1.12894429
40	MP0003950_abnormal_plasma_membrane	1.02321967
41	MP0005375_adipose_tissue_phenotype	0.95558055
42	MP0005666_abnormal_adipose_tissue	0.94634359
43	MP0002822_catalepsy	0.92384040
44	MP0000003_abnormal_adipose_tissue	0.91413913
45	MP0008775_abnormal_heart_ventricle	0.88711614
46	MP0003137_abnormal_impulse_conducting	0.85298949
47	MP0005670_abnormal_white_adipose	0.77819597
48	MP0003879_abnormal_hair_cell	0.76793172
49	MP0004147_increased_porphyrin_level	0.73917892
50	MP0000372_irregular_coat_pigmentation	0.69877239
51	MP0003828_pulmonary_edema	0.69228898
52	MP0009780_abnormal_chondrocyte_physiolo	0.69201503
53	MP0003656_abnormal_erythrocyte_physiolo	0.68545131
54	MP0003045_fibrosis	0.65747563
55	MP0004085_abnormal_heartbeat	0.64379476
56	MP0000266_abnormal_heart_morphology	0.60700327
57	MP0004134_abnormal_chest_morphology	0.58221744
58	MP0002078_abnormal_glucose_homeostasis	0.53637019
59	MP0004043_abnormal_pH_regulation	0.52470377
60	MP0010030_abnormal_orbit_morphology	0.51212869
61	MP0001299_abnormal_eye_distance/	0.50890142
62	MP0005083_abnormal_biliary_tract	0.48924412
63	MP0001346_abnormal_lacrimal_gland	0.48893739
64	MP0009672_abnormal_birth_weight	0.44304426
65	MP0004142_abnormal_muscle_tone	0.43222687
66	MP0005584_abnormal_enzyme/coenzyme_acti	0.42673284
67	MP0005376_homeostasis/metabolism_phenot	0.41382041
68	MP0008569_lethality_at_weaning	0.40002792
69	MP0005167_abnormal_blood-brain_barrier	0.37539625
70	MP0002638_abnormal_pupillary_reflex	0.37282049
71	MP0005535_abnormal_body_temperature	0.37122134
72	MP0005452_abnormal_adipose_tissue	0.36594388
73	MP0005166_decreased_susceptibility_to	0.36504099
74	MP0005332_abnormal_amino_acid	0.35815688
75	MP0002114_abnormal_axial_skeleton	0.35657522
76	MP0000762_abnormal_tongue_morphology	0.35148299
77	MP0002128_abnormal_blood_circulation	0.35084307
78	MP0006035_abnormal_mitochondrial_morpho	0.33956700
79	MP0005334_abnormal_fat_pad	0.33856297
80	MP0009250_abnormal_appendicular_skeleto	0.31531036
81	MP0005319_abnormal_enzyme/_coenzyme	0.31015933
82	MP0003806_abnormal_nucleotide_metabolis	0.30243443
83	MP0002896_abnormal_bone_mineralization	0.28676402
84	MP0005423_abnormal_somatic_nervous	0.28639416
85	MP0003948_abnormal_gas_homeostasis	0.28557033
86	MP0005187_abnormal_penis_morphology	0.25693401
87	MP0003959_abnormal_lean_body	0.24257235
88	MP0000230_abnormal_systemic_arterial	0.23972486
89	MP0002734_abnormal_mechanical_nocicepti	0.23352262
90	MP0005165_increased_susceptibility_to	0.23223935
91	MP0001943_abnormal_respiration	0.22056854
92	MP0002066_abnormal_motor_capabilities/c	0.21134474
93	MP0002876_abnormal_thyroid_physiology	0.19017925
94	MP0004858_abnormal_nervous_system	0.16937316
95	MP0006276_abnormal_autonomic_nervous	0.16057156
96	MP0004197_abnormal_fetal_growth/weight/	0.14643707
97	MP0005645_abnormal_hypothalamus_physiol	0.13528432
98	MP0009115_abnormal_fat_cell	0.13014941
99	MP0002067_abnormal_sensory_capabilities	0.11672839
100	MP0008874_decreased_physiological_sensi	0.11341424

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Type 1 muscle fiber predominance (HP:0003803)	8.40980435
2	Exercise-induced myalgia (HP:0003738)	8.39202402
3	Exercise-induced muscle cramps (HP:0003710)	7.91764147
4	Muscle hypertrophy of the lower extremities (HP:0008968)	6.33931578
5	Distal arthrogryposis (HP:0005684)	5.97428891
6	Myopathic facies (HP:0002058)	5.93865185
7	Calf muscle hypertrophy (HP:0008981)	5.60346223
8	EMG: myopathic abnormalities (HP:0003458)	5.36465140
9	Rhabdomyolysis (HP:0003201)	5.18134148
10	Myoglobinuria (HP:0002913)	5.00421565
11	Round ear (HP:0100830)	4.83082476
12	Muscle fiber splitting (HP:0003555)	4.78811105
13	Centrally nucleated skeletal muscle fibers (HP:0003687)	4.69421974
14	Hyporeflexia of lower limbs (HP:0002600)	4.65585138
15	Ulnar deviation of the wrist (HP:0003049)	4.59842392
16	Abnormality of the calf musculature (HP:0001430)	4.53161643
17	Rimmed vacuoles (HP:0003805)	4.49782198
18	Neck muscle weakness (HP:0000467)	4.48296861
19	Abnormality of the left ventricular outflow tract (HP:0011103)	4.29906784
20	Subaortic stenosis (HP:0001682)	4.29906784
21	Abnormality of skeletal muscle fiber size (HP:0012084)	4.29612080
22	Calcaneovalgus deformity (HP:0001848)	4.17954087
23	Muscle stiffness (HP:0003552)	3.95247191
24	Difficulty running (HP:0009046)	3.90975255
25	Increased connective tissue (HP:0009025)	3.71229994
26	Deformed tarsal bones (HP:0008119)	3.70527221
27	Absent phalangeal crease (HP:0006109)	3.62702493
28	Distal lower limb muscle weakness (HP:0009053)	3.49732613
29	Increased variability in muscle fiber diameter (HP:0003557)	3.49681754
30	Frequent falls (HP:0002359)	3.43694764
31	Asymmetric septal hypertrophy (HP:0001670)	3.40036145
32	Myotonia (HP:0002486)	3.38376350
33	Areflexia of lower limbs (HP:0002522)	3.34598136
34	Malignant hyperthermia (HP:0002047)	3.12905461
35	Sudden death (HP:0001699)	3.10379709
36	Abnormal finger flexion creases (HP:0006143)	3.01625890
37	EMG: neuropathic changes (HP:0003445)	2.98678870
38	Bundle branch block (HP:0011710)	2.88707203
39	Generalized muscle weakness (HP:0003324)	2.86815722
40	Mildly elevated creatine phosphokinase (HP:0008180)	2.68122072
41	Progressive muscle weakness (HP:0003323)	2.52771124
42	Distal lower limb amyotrophy (HP:0008944)	2.51574352
43	Slender build (HP:0001533)	2.50769976
44	Bulbar palsy (HP:0001283)	2.50324977
45	Weak cry (HP:0001612)	2.42907784
46	Abnormality of the calcaneus (HP:0008364)	2.42735854
47	Dilated cardiomyopathy (HP:0001644)	2.42563602
48	Scapular winging (HP:0003691)	2.42139274
49	Limb-girdle muscle atrophy (HP:0003797)	2.38551657
50	Hyperkalemia (HP:0002153)	2.34188161
51	Fetal akinesia sequence (HP:0001989)	2.33758493
52	Gowers sign (HP:0003391)	2.29753921
53	Spinal rigidity (HP:0003306)	2.25278058
54	Fatigable weakness (HP:0003473)	2.22983432
55	Abnormality of the neuromuscular junction (HP:0003398)	2.22983432
56	Ventricular tachycardia (HP:0004756)	2.22610859
57	Hip contracture (HP:0003273)	2.09136248
58	Muscular dystrophy (HP:0003560)	2.08004214
59	Proximal amyotrophy (HP:0007126)	2.07689345
60	Lipoatrophy (HP:0100578)	2.07336400
61	Waddling gait (HP:0002515)	2.03480297
62	Abnormality of the foot musculature (HP:0001436)	2.02060445
63	Muscle fiber inclusion bodies (HP:0100299)	11.4576500
64	Nemaline bodies (HP:0003798)	11.3386283
65	Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)	11.0165195
66	Abnormality of the shoulder girdle musculature (HP:0001435)	1.99798297
67	Difficulty climbing stairs (HP:0003551)	1.98890474
68	Abnormality of the musculature of the pelvis (HP:0001469)	1.94117076
69	Abnormality of the hip-girdle musculature (HP:0001445)	1.94117076
70	Lower limb amyotrophy (HP:0007210)	1.92731440
71	Ragged-red muscle fibers (HP:0003200)	1.90135954
72	Exercise intolerance (HP:0003546)	1.89492002
73	Shoulder girdle muscle weakness (HP:0003547)	1.88741091
74	Pelvic girdle muscle weakness (HP:0003749)	1.88632315
75	Foot dorsiflexor weakness (HP:0009027)	1.85430003
76	Heart block (HP:0012722)	1.84316444
77	Paralysis (HP:0003470)	1.77909694
78	Respiratory insufficiency due to muscle weakness (HP:0002747)	1.77184719
79	Limb-girdle muscle weakness (HP:0003325)	1.74745255
80	Abnormal atrioventricular conduction (HP:0005150)	1.73086369
81	Increased intramyocellular lipid droplets (HP:0012240)	1.67837874
82	Facial diplegia (HP:0001349)	1.67641683
83	Long clavicles (HP:0000890)	1.63331176
84	Metatarsus adductus (HP:0001840)	1.61747822
85	Nonprogressive disorder (HP:0003680)	1.61283796
86	Ulnar deviation of finger (HP:0009465)	1.60424448
87	Increased muscle lipid content (HP:0009058)	1.55384608
88	Ventricular arrhythmia (HP:0004308)	1.51536484
89	Type 2 muscle fiber atrophy (HP:0003554)	1.45642223
90	Popliteal pterygium (HP:0009756)	1.40420942
91	Oligomenorrhea (HP:0000876)	1.38120706
92	Limited hip movement (HP:0008800)	1.37600020
93	Muscle fiber atrophy (HP:0100295)	1.37268099
94	Achilles tendon contracture (HP:0001771)	1.35728584
95	Ulnar deviation of the hand or of fingers of the hand (HP:0001193)	1.34795907
96	Steppage gait (HP:0003376)	1.33585555
97	Congenital hip dislocation (HP:0001374)	1.26245607
98	Short palpebral fissure (HP:0012745)	1.24517668
99	Adducted thumb (HP:0001181)	1.23998459
100	Insulin-resistant diabetes mellitus (HP:0000831)	1.21563435

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	PHKG2	6.24201475
2	PHKG1	6.24201475
3	TTN	6.12804054
4	PIK3CG	2.87971931
5	OBSCN	11.0380098
6	MAPK12	1.97389216
7	PINK1	1.91298662
8	MAP2K3	1.79530390
9	MAP3K7	1.61084288
10	MUSK	1.48090043
11	NME1	1.37844734
12	MAPKAPK3	1.31913944
13	NEK1	1.23241851
14	EEF2K	1.21063809
15	TRPM7	1.20453871
16	MAP2K4	1.16928325
17	CCNB1	1.08067966
18	PDK2	1.02589552
19	CAMK2G	0.91255748
20	MOS	0.90723124
21	MARK1	0.88893342
22	MAP2K6	0.86617185
23	PRKAA2	0.84562898
24	ERBB3	0.84396888
25	DMPK	0.81681115
26	LIMK1	0.78964242
27	DYRK1B	0.70958552
28	PRKAA1	0.69022022
29	MAP3K13	0.66822918
30	MAPK7	0.60891468
31	AKT2	0.59178335
32	NEK9	0.58405656
33	CAMK4	0.56313341
34	BCKDK	0.53299790
35	MAPK11	0.52985246
36	KSR2	0.51059969
37	RIPK1	0.48115505
38	PRKG1	0.47956283
39	MAP2K1	0.47705378
40	MAPK4	0.47302574
41	PKN1	0.47261367
42	CAMK2D	0.44246473
43	ICK	0.43632173
44	LATS2	0.42316702
45	TRIB3	0.41235961
46	SGK3	0.41190252
47	CAMK2B	0.40810979
48	CAMK2A	0.39374233
49	CAMK1	0.37946232
50	MAP3K1	0.36800250
51	PIK3CA	0.33139982
52	RPS6KB2	0.31769670
53	RPS6KB1	0.31462511
54	TBK1	0.31411903
55	ROCK1	0.31323971
56	TAOK2	0.30067041
57	PRKACA	0.29592054
58	SGK1	0.28172438
59	SGK2	0.26679752
60	TIE1	0.26536172
61	RPS6KA3	0.25346622
62	PRPF4B	0.23874890
63	MAPK10	0.23745762
64	RPS6KA1	0.22649054
65	MAPK13	0.22324300
66	PRKACB	0.21998097
67	SIK1	0.21816672
68	PDPK1	0.18800506
69	ARAF	0.17857786
70	MARK3	0.17235264
71	RAF1	0.16302217
72	MTOR	0.15223287
73	PRKACG	0.12429455
74	CDK19	0.12381501
75	RPS6KL1	0.12181437
76	RPS6KC1	0.12181437
77	PDK1	0.11144915
78	LATS1	0.10934166
79	MARK2	0.09888905
80	BRAF	0.09231379
81	EPHB1	0.08761549
82	MAP3K11	0.08404366
83	RPS6KA6	0.08078428
84	MAP3K10	0.07894825
85	SGK223	0.07679064
86	SGK494	0.07679064
87	DAPK2	0.07540388
88	STK11	0.07367488
89	PRKD1	0.05990867
90	ZAP70	0.05182472
91	KSR1	0.04561370
92	GSK3B	0.03957322
93	FGFR3	0.03549365
94	MAPK3	0.02673830
95	MAP2K2	0.01954183
96	MAPK8	0.01888694
97	MAPK9	0.01819501
98	PAK1	0.01434591
99	MAPK14	0.00145493
100	MAP3K6	-0.0037848

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	4.31864054
2	Cardiac muscle contraction_Homo sapiens_hsa04260	4.10659980
3	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	4.07440357
4	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	4.04409011
5	Dilated cardiomyopathy_Homo sapiens_hsa05414	3.76368208
6	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	3.70513500
7	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	3.04807326
8	Circadian rhythm_Homo sapiens_hsa04710	2.78614487
9	Carbon metabolism_Homo sapiens_hsa01200	2.41672095
10	Glucagon signaling pathway_Homo sapiens_hsa04922	2.36422325
11	Pentose phosphate pathway_Homo sapiens_hsa00030	2.20898520
12	Arginine biosynthesis_Homo sapiens_hsa00220	2.20328682
13	Arginine and proline metabolism_Homo sapiens_hsa00330	2.19741683
14	Insulin signaling pathway_Homo sapiens_hsa04910	2.13538557
15	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	2.05413719
16	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	2.04908986
17	Fructose and mannose metabolism_Homo sapiens_hsa00051	1.88270165
18	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	1.78715857
19	Oxytocin signaling pathway_Homo sapiens_hsa04921	1.78631982
20	Calcium signaling pathway_Homo sapiens_hsa04020	1.72964728
21	Parkinsons disease_Homo sapiens_hsa05012	1.71392437
22	Pyruvate metabolism_Homo sapiens_hsa00620	1.71091991
23	Propanoate metabolism_Homo sapiens_hsa00640	1.70340761
24	Insulin resistance_Homo sapiens_hsa04931	1.65839253
25	Alzheimers disease_Homo sapiens_hsa05010	1.64043731
26	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	1.56948174
27	Biosynthesis of amino acids_Homo sapiens_hsa01230	1.48782300
28	Fatty acid degradation_Homo sapiens_hsa00071	1.40454674
29	Oxidative phosphorylation_Homo sapiens_hsa00190	1.34739701
30	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	1.34004153
31	AMPK signaling pathway_Homo sapiens_hsa04152	1.33947107
32	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.32390740
33	Starch and sucrose metabolism_Homo sapiens_hsa00500	1.30303629
34	Nitrogen metabolism_Homo sapiens_hsa00910	1.29652938
35	Adipocytokine signaling pathway_Homo sapiens_hsa04920	1.20261930
36	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.19137350
37	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.15203679
38	Phenylalanine metabolism_Homo sapiens_hsa00360	1.00951991
39	Longevity regulating pathway - multiple species_Homo sapiens_hsa04213	1.00389029
40	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.98042654
41	Fatty acid metabolism_Homo sapiens_hsa01212	0.95999456
42	Gastric acid secretion_Homo sapiens_hsa04971	0.88193089
43	Galactose metabolism_Homo sapiens_hsa00052	0.83555328
44	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.82552695
45	Long-term potentiation_Homo sapiens_hsa04720	0.81772884
46	Huntingtons disease_Homo sapiens_hsa05016	0.80878294
47	GnRH signaling pathway_Homo sapiens_hsa04912	0.77023994
48	Tight junction_Homo sapiens_hsa04530	0.73096041
49	Renin secretion_Homo sapiens_hsa04924	0.71834236
50	Viral myocarditis_Homo sapiens_hsa05416	0.71500788
51	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.69740044
52	Butanoate metabolism_Homo sapiens_hsa00650	0.59273743
53	FoxO signaling pathway_Homo sapiens_hsa04068	0.55648002
54	beta-Alanine metabolism_Homo sapiens_hsa00410	0.54846308
55	Longevity regulating pathway - mammal_Homo sapiens_hsa04211	0.52989278
56	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.50378527
57	Thyroid hormone signaling pathway_Homo sapiens_hsa04919	0.46378644
58	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.46040256
59	Fatty acid elongation_Homo sapiens_hsa00062	0.45958317
60	Focal adhesion_Homo sapiens_hsa04510	0.40643425
61	PPAR signaling pathway_Homo sapiens_hsa03320	0.39969589
62	Peroxisome_Homo sapiens_hsa04146	0.39713327
63	Insulin secretion_Homo sapiens_hsa04911	0.39029480
64	MAPK signaling pathway_Homo sapiens_hsa04010	0.38484350
65	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.37683565
66	Circadian entrainment_Homo sapiens_hsa04713	0.34902636
67	Tryptophan metabolism_Homo sapiens_hsa00380	0.34678269
68	mTOR signaling pathway_Homo sapiens_hsa04150	0.34519906
69	Long-term depression_Homo sapiens_hsa04730	0.34431724
70	Lysine degradation_Homo sapiens_hsa00310	0.32993870
71	Purine metabolism_Homo sapiens_hsa00230	0.30782770
72	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	0.29400587
73	Salivary secretion_Homo sapiens_hsa04970	0.28342871
74	VEGF signaling pathway_Homo sapiens_hsa04370	0.27157772
75	Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750	0.27037792
76	HIF-1 signaling pathway_Homo sapiens_hsa04066	0.25963356
77	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	0.25806052
78	Central carbon metabolism in cancer_Homo sapiens_hsa05230	0.25356577
79	Cholinergic synapse_Homo sapiens_hsa04725	0.22970130
80	Tyrosine metabolism_Homo sapiens_hsa00350	0.22623666
81	Regulation of autophagy_Homo sapiens_hsa04140	0.22437422
82	Glioma_Homo sapiens_hsa05214	0.19765794
83	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.19405072
84	Histidine metabolism_Homo sapiens_hsa00340	0.19314534
85	Thyroid cancer_Homo sapiens_hsa05216	0.17093399
86	Sulfur relay system_Homo sapiens_hsa04122	0.16402018
87	Oocyte meiosis_Homo sapiens_hsa04114	0.15485325
88	Amphetamine addiction_Homo sapiens_hsa05031	0.15421573
89	Platelet activation_Homo sapiens_hsa04611	0.15106141
90	Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014	0.14456977
91	cAMP signaling pathway_Homo sapiens_hsa04024	0.13901646
92	Metabolic pathways_Homo sapiens_hsa01100	0.12608089
93	Neurotrophin signaling pathway_Homo sapiens_hsa04722	0.09609940
94	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	0.09230856
95	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.09064391
96	Olfactory transduction_Homo sapiens_hsa04740	0.08987847
97	Melanogenesis_Homo sapiens_hsa04916	0.06928454
98	Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923	0.06825231
99	Pancreatic secretion_Homo sapiens_hsa04972	0.06519667
100	Regulation of actin cytoskeleton_Homo sapiens_hsa04810	0.06410099

C8ORF22

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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