ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	actin-mediated cell contraction (GO:0070252)	9.49234233
2	skeletal muscle contraction (GO:0003009)	8.89595599
3	sarcoplasmic reticulum calcium ion transport (GO:0070296)	8.45080330
4	regulation of skeletal muscle contraction (GO:0014819)	8.37552680
5	sarcomere organization (GO:0045214)	7.14156549
6	actin filament-based movement (GO:0030048)	7.05572628
7	myofibril assembly (GO:0030239)	7.03474476
8	striated muscle contraction (GO:0006941)	6.64407336
9	negative regulation of potassium ion transmembrane transporter activity (GO:1901017)	6.58527672
10	response to stimulus involved in regulation of muscle adaptation (GO:0014874)	6.53485427
11	response to inactivity (GO:0014854)	6.41517898
12	cardiac myofibril assembly (GO:0055003)	6.33857291
13	response to muscle activity (GO:0014850)	6.13826565
14	positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)	6.00896976
15	regulation of relaxation of muscle (GO:1901077)	5.85192669
16	negative regulation of potassium ion transmembrane transport (GO:1901380)	5.84071279
17	skeletal muscle fiber development (GO:0048741)	5.69583274
18	plasma membrane repair (GO:0001778)	5.60071992
19	regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	5.57680253
20	cardiac muscle contraction (GO:0060048)	5.42569201
21	positive regulation of myotube differentiation (GO:0010831)	5.40030546
22	actomyosin structure organization (GO:0031032)	5.39409820
23	myotube cell development (GO:0014904)	5.19520333
24	muscle cell fate commitment (GO:0042693)	5.10972954
25	muscle contraction (GO:0006936)	5.10233247
26	regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	4.88693272
27	regulation of cell communication by electrical coupling (GO:0010649)	4.85768402
28	muscle cell cellular homeostasis (GO:0046716)	4.83635664
29	creatine metabolic process (GO:0006600)	4.80218224
30	negative regulation of protein localization to cell surface (GO:2000009)	4.72023367
31	regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)	4.67783624
32	muscle system process (GO:0003012)	4.62791292
33	skeletal muscle tissue development (GO:0007519)	4.60190819
34	striated muscle atrophy (GO:0014891)	4.56574997
35	regulation of sarcomere organization (GO:0060297)	4.52476316
36	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO	4.47417320
37	regulation of actin filament-based movement (GO:1903115)	4.36340257
38	regulation of striated muscle contraction (GO:0006942)	4.35117942
39	positive regulation of myoblast differentiation (GO:0045663)	4.30704831
40	muscle organ development (GO:0007517)	4.25865377
41	cardiac muscle hypertrophy (GO:0003300)	4.20896948
42	muscle structure development (GO:0061061)	4.19487362
43	muscle fiber development (GO:0048747)	4.19226879
44	striated muscle adaptation (GO:0014888)	4.17583889
45	regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)	4.16959950
46	cardiac muscle cell development (GO:0055013)	4.09908056
47	striated muscle hypertrophy (GO:0014897)	4.06214308
48	skeletal muscle adaptation (GO:0043501)	4.03532986
49	muscle atrophy (GO:0014889)	4.01781285
50	muscle tissue morphogenesis (GO:0060415)	4.00944329
51	NADH metabolic process (GO:0006734)	3.99404981
52	myoblast fusion (GO:0007520)	3.90740997
53	heart contraction (GO:0060047)	3.88744520
54	heart process (GO:0003015)	3.88744520
55	cardiac muscle tissue morphogenesis (GO:0055008)	3.86604720
56	cardiac cell development (GO:0055006)	3.81767631
57	skeletal muscle tissue regeneration (GO:0043403)	3.77922645
58	striated muscle cell development (GO:0055002)	3.74059405
59	muscle hypertrophy (GO:0014896)	3.67381768
60	regulation of membrane repolarization (GO:0060306)	3.65743430
61	regulation of the force of heart contraction (GO:0002026)	3.64199101
62	regulation of myoblast differentiation (GO:0045661)	3.63602276
63	regulation of calcium ion transmembrane transport (GO:1903169)	3.52586221
64	regulation of calcium ion transmembrane transporter activity (GO:1901019)	3.52586221
65	negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)	3.47574874
66	glycogen biosynthetic process (GO:0005978)	3.47201645
67	glucan biosynthetic process (GO:0009250)	3.47201645
68	regulation of skeletal muscle cell differentiation (GO:2001014)	3.42978290
69	syncytium formation by plasma membrane fusion (GO:0000768)	3.40205227
70	striated muscle tissue development (GO:0014706)	3.39839866
71	positive regulation of calcium ion transmembrane transporter activity (GO:1901021)	3.39563822
72	regulation of muscle system process (GO:0090257)	3.37072417
73	muscle adaptation (GO:0043500)	3.34426697
74	muscle cell development (GO:0055001)	3.31468138
75	regulation of sequestering of triglyceride (GO:0010889)	3.30170146
76	negative regulation of calcium ion transmembrane transporter activity (GO:1901020)	3.29519912
77	negative regulation of calcium ion transmembrane transport (GO:1903170)	3.29519912
78	regulation of muscle contraction (GO:0006937)	3.28690525
79	adult heart development (GO:0007512)	3.25464303
80	glycogen catabolic process (GO:0005980)	3.24410409
81	regulation of myotube differentiation (GO:0010830)	3.23452045
82	cardiac muscle hypertrophy in response to stress (GO:0014898)	3.22011971
83	muscle hypertrophy in response to stress (GO:0003299)	3.22011971
84	cardiac muscle adaptation (GO:0014887)	3.22011971
85	negative regulation of nitric-oxide synthase activity (GO:0051001)	3.18975989
86	regulation of calcineurin-NFAT signaling cascade (GO:0070884)	3.18666564
87	myotube differentiation (GO:0014902)	3.17415939
88	muscle tissue development (GO:0060537)	3.11278386
89	negative regulation of muscle hypertrophy (GO:0014741)	3.09474412
90	negative regulation of cardiac muscle tissue growth (GO:0055022)	3.01658609
91	negative regulation of heart growth (GO:0061117)	3.01658609
92	glucan catabolic process (GO:0009251)	3.01003246
93	regulation of skeletal muscle fiber development (GO:0048742)	3.00566457
94	negative regulation of potassium ion transport (GO:0043267)	2.99278369
95	ventricular cardiac muscle tissue morphogenesis (GO:0055010)	2.90195176
96	positive regulation of striated muscle cell differentiation (GO:0051155)	2.85194516
97	regulation of ATP catabolic process (GO:1903289)	2.82518319
98	regulation of ATPase activity (GO:0043462)	2.82518319
99	actin-myosin filament sliding (GO:0033275)	11.3291987
100	muscle filament sliding (GO:0030049)	11.3291987

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	TRIM28_21343339_ChIP-Seq_HEK293_Human	5.12136054
2	RARG_19884340_ChIP-ChIP_MEFs_Mouse	3.64078407
3	BP1_19119308_ChIP-ChIP_Hs578T_Human	3.07006502
4	EP300_21415370_ChIP-Seq_HL-1_Mouse	3.00248815
5	EZH2_22144423_ChIP-Seq_EOC_Human	2.95722144
6	TBX20_22080862_ChIP-Seq_HEART_Mouse	2.86382404
7	TBX20_22328084_ChIP-Seq_HEART_Mouse	2.86382404
8	PPARG_19300518_ChIP-PET_3T3-L1_Mouse	2.85487283
9	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.81731223
10	CDX2_19796622_ChIP-Seq_MESCs_Mouse	2.57399137
11	PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse	2.47451171
12	TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse	2.30198727
13	MEF2A_21415370_ChIP-Seq_HL-1_Mouse	2.23546113
14	ESR1_20079471_ChIP-ChIP_T-47D_Human	2.19566447
15	THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse	2.13986806
16	ESR1_22446102_ChIP-Seq_UTERUS_Mouse	2.09878877
17	TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	2.08934487
18	PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse	1.98584396
19	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.92635536
20	RUNX2_24764292_ChIP-Seq_MC3T3_Mouse	1.89150024
21	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.86210083
22	CLOCK_20551151_ChIP-Seq_293T_Human	1.80535580
23	ESRRB_18555785_ChIP-Seq_MESCs_Mouse	1.77713583
24	NFIB_24661679_ChIP-Seq_LUNG_Mouse	1.76535777
25	ZNF652_21678463_ChIP-ChIP_ZR75-1_Human	1.75014206
26	EZH2_18974828_ChIP-Seq_MESCs_Mouse	1.61546801
27	RNF2_18974828_ChIP-Seq_MESCs_Mouse	1.61546801
28	EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse	1.59720780
29	SUZ12_18692474_ChIP-Seq_MEFs_Mouse	1.55120854
30	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	1.52915688
31	CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human	1.51662847
32	SMC3_22415368_ChIP-Seq_MEFs_Mouse	1.50536766
33	NKX2-5_21415370_ChIP-Seq_HL-1_Mouse	1.50513788
34	MTF2_20144788_ChIP-Seq_MESCs_Mouse	1.45835868
35	GATA4_21415370_ChIP-Seq_HL-1_Mouse	1.45743644
36	CJUN_26792858_Chip-Seq_BT549_Human	1.41305691
37	ESR2_21235772_ChIP-Seq_MCF-7_Human	1.40046913
38	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.38585096
39	SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse	1.35947359
40	ZNF263_19887448_ChIP-Seq_K562_Human	1.34586970
41	CTCF_27219007_Chip-Seq_Bcells_Human	1.33335247
42	ESR1_17901129_ChIP-ChIP_LIVER_Mouse	1.32924611
43	SUZ12_18974828_ChIP-Seq_MESCs_Mouse	1.32557054
44	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.32450460
45	NR1I2_20693526_ChIP-Seq_LIVER_Mouse	1.31457778
46	WT1_19549856_ChIP-ChIP_CCG9911_Human	1.30901187
47	SMC1_22415368_ChIP-Seq_MEFs_Mouse	1.22228587
48	CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse	1.21000191
49	SMAD_19615063_ChIP-ChIP_OVARY_Human	1.19869660
50	RAD21_21589869_ChIP-Seq_MESCs_Mouse	1.18643599
51	WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse	1.17793625
52	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.17727973
53	CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse	1.17549112
54	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.16980371
55	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.15824732
56	MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human	1.13254124
57	SUZ12_20075857_ChIP-Seq_MESCs_Mouse	1.12284564
58	TP53_20018659_ChIP-ChIP_R1E_Mouse	1.10142540
59	NFE2L2_20460467_ChIP-Seq_MEFs_Mouse	1.10013064
60	NRF2_20460467_ChIP-Seq_MEFs_Mouse	1.10013064
61	SMAD3_22036565_ChIP-Seq_ESCs_Mouse	1.09122235
62	DROSHA_22980978_ChIP-Seq_HELA_Human	1.07634309
63	GATA1_22025678_ChIP-Seq_K562_Human	1.07323097
64	PPARG_20176806_ChIP-Seq_3T3-L1_Mouse	1.07248967
65	BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human	1.06590370
66	TP53_23651856_ChIP-Seq_MEFs_Mouse	1.03245596
67	SA1_22415368_ChIP-Seq_MEFs_Mouse	1.03208986
68	NR3C1_23031785_ChIP-Seq_PC12_Mouse	1.02578511
69	TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse	0.97164341
70	NR0B1_18358816_ChIP-ChIP_MESCs_Mouse	0.96468956
71	RNF2_27304074_Chip-Seq_ESCs_Mouse	0.95247334
72	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	0.94466077
73	SUZ12_27294783_Chip-Seq_ESCs_Mouse	0.93391264
74	ZFP281_18757296_ChIP-ChIP_E14_Mouse	0.93334001
75	WT1_25993318_ChIP-Seq_PODOCYTE_Human	0.93313702
76	FOXO1_23066095_ChIP-Seq_LIVER_Mouse	0.93185465
77	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	0.91842226
78	SOX9_24532713_ChIP-Seq_HFSC_Mouse	0.90950965
79	MYC_27129775_Chip-Seq_CORNEA_Mouse	0.90114356
80	TFAP2C_20629094_ChIP-Seq_MCF-7_Human	0.89276202
81	RXR_22158963_ChIP-Seq_LIVER_Mouse	0.88534449
82	CRX_20693478_ChIP-Seq_RETINA_Mouse	0.88293777
83	PHC1_16625203_ChIP-ChIP_MESCs_Mouse	0.87392288
84	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	0.87202931
85	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	0.87066761
86	SUZ12_27294783_Chip-Seq_NPCs_Mouse	0.85562949
87	BRD4_25478319_ChIP-Seq_HGPS_Human	0.84916908
88	DNAJC2_21179169_ChIP-ChIP_NT2_Human	0.84697690
89	HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse	0.84519783
90	SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse	0.83888699
91	STAT3_19079543_ChIP-ChIP_MESCs_Mouse	0.81844942
92	NFI_21473784_ChIP-Seq_ESCs_Mouse	0.81234711
93	ERG_21242973_ChIP-ChIP_JURKAT_Human	0.80396468
94	PPAR_26484153_Chip-Seq_NCI-H1993_Human	0.80080601
95	PCGF2_27294783_Chip-Seq_NPCs_Mouse	0.79015262
96	LXR_22158963_ChIP-Seq_LIVER_Mouse	0.77947990
97	EZH2_27294783_Chip-Seq_NPCs_Mouse	0.77529632
98	CREB1_26743006_Chip-Seq_LNCaP-abl_Human	0.76233035
99	LXR_22292898_ChIP-Seq_THP-1_Human	0.75932181
100	ISL1_27105846_Chip-Seq_CPCs_Mouse	0.75374643

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0000751_myopathy	6.40549784
2	MP0000749_muscle_degeneration	5.82374946
3	MP0004145_abnormal_muscle_electrophysio	4.89529800
4	MP0003646_muscle_fatigue	4.11671742
5	MP0004084_abnormal_cardiac_muscle	3.91065079
6	MP0004036_abnormal_muscle_relaxation	3.89231122
7	MP0008438_abnormal_cutaneous_collagen	3.45884409
8	MP0004087_abnormal_muscle_fiber	3.32689697
9	MP0000759_abnormal_skeletal_muscle	3.29620184
10	MP0002106_abnormal_muscle_physiology	3.18406594
11	MP0000747_muscle_weakness	3.08391533
12	MP0000750_abnormal_muscle_regeneration	3.04871798
13	MP0005369_muscle_phenotype	2.87648820
14	MP0002269_muscular_atrophy	2.81825989
15	MP0002837_dystrophic_cardiac_calcinosis	2.76553555
16	MP0005620_abnormal_muscle_contractility	2.75312000
17	MP0003950_abnormal_plasma_membrane	2.73576894
18	MP0005330_cardiomyopathy	2.67949075
19	MP0002108_abnormal_muscle_morphology	2.63704098
20	MP0004215_abnormal_myocardial_fiber	2.32432874
21	MP0002972_abnormal_cardiac_muscle	2.27857576
22	MP0005275_abnormal_skin_tensile	2.27179052
23	MP0005503_abnormal_tendon_morphology	2.19835179
24	MP0004233_abnormal_muscle_weight	2.18781266
25	MP0000733_abnormal_muscle_development	2.17345997
26	MP0004130_abnormal_muscle_cell	2.12308035
27	MP0002332_abnormal_exercise_endurance	2.03267128
28	MP0004484_altered_response_of	1.86709762
29	MP0003279_aneurysm	1.82290998
30	MP0003705_abnormal_hypodermis_morpholog	1.73879327
31	MP0004270_analgesia	1.72204279
32	MP0010630_abnormal_cardiac_muscle	1.69534700
33	MP0000013_abnormal_adipose_tissue	1.65836941
34	MP0005670_abnormal_white_adipose	1.63786672
35	MP0001544_abnormal_cardiovascular_syste	1.60902264
36	MP0005385_cardiovascular_system_phenoty	1.60902264
37	MP0006138_congestive_heart_failure	1.57875087
38	MP0005451_abnormal_body_composition	1.53189900
39	MP0004510_myositis	1.48088689
40	MP0004272_abnormal_basement_membrane	1.47841981
41	MP0001958_emphysema	1.46244949
42	MP0001542_abnormal_bone_strength	1.31497012
43	MP0002127_abnormal_cardiovascular_syste	1.28220609
44	MP0003137_abnormal_impulse_conducting	1.24961304
45	MP0002971_abnormal_brown_adipose	1.20816648
46	MP0008775_abnormal_heart_ventricle	1.18316202
47	MP0009780_abnormal_chondrocyte_physiolo	1.16959921
48	MP0003828_pulmonary_edema	1.13260842
49	MP0006036_abnormal_mitochondrial_physio	1.05504134
50	MP0010368_abnormal_lymphatic_system	1.03679875
51	MP0000003_abnormal_adipose_tissue	1.01635825
52	MP0005375_adipose_tissue_phenotype	0.98520294
53	MP0001299_abnormal_eye_distance/	0.97075066
54	MP0001661_extended_life_span	0.96544443
55	MP0010030_abnormal_orbit_morphology	0.92557549
56	MP0000767_abnormal_smooth_muscle	0.91329211
57	MP0005666_abnormal_adipose_tissue	0.91244056
58	MP0004085_abnormal_heartbeat	0.90275475
59	MP0009384_cardiac_valve_regurgitation	0.89811875
60	MP0005266_abnormal_metabolism	0.79624295
61	MP0003221_abnormal_cardiomyocyte_apopto	0.78792128
62	MP0005165_increased_susceptibility_to	0.78144650
63	MP0005595_abnormal_vascular_smooth	0.73435364
64	MP0005623_abnormal_meninges_morphology	0.71892482
65	MP0000266_abnormal_heart_morphology	0.70098636
66	MP0009250_abnormal_appendicular_skeleto	0.67701952
67	MP0002896_abnormal_bone_mineralization	0.66753796
68	MP0002128_abnormal_blood_circulation	0.65203447
69	MP0002249_abnormal_larynx_morphology	0.62522057
70	MP0002295_abnormal_pulmonary_circulatio	0.60506018
71	MP0000762_abnormal_tongue_morphology	0.59796925
72	MP0002933_joint_inflammation	0.59276280
73	MP0003045_fibrosis	0.57601807
74	MP0004134_abnormal_chest_morphology	0.55907848
75	MP0005508_abnormal_skeleton_morphology	0.55091219
76	MP0004185_abnormal_adipocyte_glucose	0.54814499
77	MP0000343_altered_response_to	0.54396247
78	MP0002114_abnormal_axial_skeleton	0.50935225
79	MP0000230_abnormal_systemic_arterial	0.48171713
80	MP0003879_abnormal_hair_cell	0.48031391
81	MP0001879_abnormal_lymphatic_vessel	0.47842069
82	MP0003566_abnormal_cell_adhesion	0.46689115
83	MP0004858_abnormal_nervous_system	0.43699301
84	MP0002060_abnormal_skin_morphology	0.43642295
85	MP0005171_absent_coat_pigmentation	0.43538401
86	MP0000372_irregular_coat_pigmentation	0.43069082
87	MP0003941_abnormal_skin_development	0.42762319
88	MP0005257_abnormal_intraocular_pressure	0.40783252
89	MP0002234_abnormal_pharynx_morphology	0.35732569
90	MP0003385_abnormal_body_wall	0.34574658
91	MP0003948_abnormal_gas_homeostasis	0.33508141
92	MP0000534_abnormal_ureter_morphology	0.33405974
93	MP0003959_abnormal_lean_body	0.32329583
94	MP0000163_abnormal_cartilage_morphology	0.31915728
95	MP0008569_lethality_at_weaning	0.31796360
96	MP0005452_abnormal_adipose_tissue	0.30328576
97	MP0003091_abnormal_cell_migration	0.29769947
98	MP0005023_abnormal_wound_healing	0.29449578
99	MP0009115_abnormal_fat_cell	0.28830662
100	MP0001614_abnormal_blood_vessel	0.28696985

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Nemaline bodies (HP:0003798)	8.58948582
2	Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)	8.18504873
3	Muscle fiber inclusion bodies (HP:0100299)	8.16792130
4	Distal arthrogryposis (HP:0005684)	7.37297834
5	Type 1 muscle fiber predominance (HP:0003803)	7.31061354
6	Round ear (HP:0100830)	6.43534337
7	Exercise-induced myalgia (HP:0003738)	6.30879571
8	Ulnar deviation of the wrist (HP:0003049)	5.91866750
9	Muscle hypertrophy of the lower extremities (HP:0008968)	5.55461418
10	Exercise-induced muscle cramps (HP:0003710)	5.50663539
11	Calf muscle hypertrophy (HP:0008981)	5.42582216
12	Calcaneovalgus deformity (HP:0001848)	5.10696374
13	Hyporeflexia of lower limbs (HP:0002600)	4.93368452
14	Abnormality of the calf musculature (HP:0001430)	4.67373486
15	Muscle fiber splitting (HP:0003555)	4.66228634
16	Deformed tarsal bones (HP:0008119)	4.57729946
17	Sudden death (HP:0001699)	4.41287072
18	Popliteal pterygium (HP:0009756)	4.41101502
19	EMG: myopathic abnormalities (HP:0003458)	4.32935919
20	Malignant hyperthermia (HP:0002047)	4.29088874
21	Myopathic facies (HP:0002058)	4.28966812
22	Absent phalangeal crease (HP:0006109)	4.19719003
23	Neck muscle weakness (HP:0000467)	4.19422428
24	Fetal akinesia sequence (HP:0001989)	4.07911856
25	Subaortic stenosis (HP:0001682)	4.04131241
26	Abnormality of the left ventricular outflow tract (HP:0011103)	4.04131241
27	Abnormality of skeletal muscle fiber size (HP:0012084)	4.04001285
28	Asymmetric septal hypertrophy (HP:0001670)	3.91029787
29	Increased variability in muscle fiber diameter (HP:0003557)	3.78439698
30	Distal lower limb muscle weakness (HP:0009053)	3.74478932
31	Increased connective tissue (HP:0009025)	3.73134069
32	Centrally nucleated skeletal muscle fibers (HP:0003687)	3.46175950
33	Abnormal finger flexion creases (HP:0006143)	3.44385143
34	Gowers sign (HP:0003391)	3.42467135
35	Abnormality of placental membranes (HP:0011409)	3.28231729
36	Amniotic constriction ring (HP:0009775)	3.28231729
37	Abnormality of the neuromuscular junction (HP:0003398)	3.27527113
38	Fatigable weakness (HP:0003473)	3.27527113
39	Difficulty running (HP:0009046)	3.24818602
40	Myotonia (HP:0002486)	3.20415671
41	Rhabdomyolysis (HP:0003201)	3.16336282
42	Myoglobinuria (HP:0002913)	3.11956444
43	Bundle branch block (HP:0011710)	3.10583883
44	Type 2 muscle fiber atrophy (HP:0003554)	3.07247825
45	Weak cry (HP:0001612)	3.06015214
46	Aplasia of the musculature (HP:0100854)	3.05546418
47	Muscle stiffness (HP:0003552)	2.94542039
48	Abnormality of the calcaneus (HP:0008364)	2.94028493
49	Mildly elevated creatine phosphokinase (HP:0008180)	2.93633774
50	Hip contracture (HP:0003273)	2.88140956
51	Lipoatrophy (HP:0100578)	2.82977181
52	Muscle fiber atrophy (HP:0100295)	2.80216710
53	Rimmed vacuoles (HP:0003805)	2.79154148
54	Areflexia of lower limbs (HP:0002522)	2.78409212
55	Bulbar palsy (HP:0001283)	2.67756333
56	EMG: neuropathic changes (HP:0003445)	2.63887535
57	Ventricular tachycardia (HP:0004756)	2.57915733
58	Metatarsus adductus (HP:0001840)	2.54952761
59	Breech presentation (HP:0001623)	2.54351621
60	Scapular winging (HP:0003691)	2.50439401
61	Dilated cardiomyopathy (HP:0001644)	2.46853236
62	Generalized muscle weakness (HP:0003324)	2.45477489
63	Limb-girdle muscle atrophy (HP:0003797)	2.45074316
64	Protrusio acetabuli (HP:0003179)	2.45022652
65	Spinal rigidity (HP:0003306)	2.42315762
66	Slender build (HP:0001533)	2.41870339
67	Frequent falls (HP:0002359)	2.41841532
68	Trismus (HP:0000211)	2.26020179
69	Respiratory insufficiency due to muscle weakness (HP:0002747)	2.25740706
70	Thin ribs (HP:0000883)	2.25270921
71	Limited hip movement (HP:0008800)	2.21404772
72	Distal lower limb amyotrophy (HP:0008944)	2.14974165
73	Easy fatigability (HP:0003388)	2.14703802
74	Pterygium (HP:0001059)	2.09382155
75	Aortic aneurysm (HP:0004942)	2.07364475
76	Heart block (HP:0012722)	2.02717521
77	Nonprogressive disorder (HP:0003680)	2.00988216
78	Abnormal atrioventricular conduction (HP:0005150)	2.00735418
79	Ventricular arrhythmia (HP:0004308)	2.00591862
80	Premature rupture of membranes (HP:0001788)	1.94820146
81	Atrial fibrillation (HP:0005110)	1.93089870
82	Long clavicles (HP:0000890)	1.92794584
83	Akinesia (HP:0002304)	1.90968360
84	Waddling gait (HP:0002515)	1.85103857
85	Difficulty climbing stairs (HP:0003551)	1.84411275
86	Abnormality of the foot musculature (HP:0001436)	1.83957301
87	Hypoplastic heart (HP:0001961)	1.81904113
88	Abnormality of the shoulder girdle musculature (HP:0001435)	1.81724746
89	Limb-girdle muscle weakness (HP:0003325)	1.77815606
90	Proximal amyotrophy (HP:0007126)	1.77248960
91	Foot dorsiflexor weakness (HP:0009027)	1.73650374
92	Generalized amyotrophy (HP:0003700)	1.73471572
93	Primary atrial arrhythmia (HP:0001692)	1.72876617
94	Muscular dystrophy (HP:0003560)	1.71333704
95	Supraventricular tachycardia (HP:0004755)	1.67411188
96	Supraventricular arrhythmia (HP:0005115)	1.64736736
97	Lower limb amyotrophy (HP:0007210)	1.63438002
98	Facial diplegia (HP:0001349)	1.63289900
99	Aortic dissection (HP:0002647)	1.56791811
100	Atrioventricular block (HP:0001678)	1.56290173

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	OBSCN	8.27283470
2	TTN	5.76712278
3	MUSK	4.91080102
4	PHKG2	4.17942374
5	PHKG1	4.17942374
6	PIK3CG	3.98099450
7	MYLK	2.80384350
8	LIMK1	2.17348396
9	MOS	2.13888637
10	DMPK	2.03873736
11	MAPK12	1.98900666
12	MAPKAPK3	1.81326116
13	TRPM7	1.65892822
14	MAP3K7	1.58134792
15	DDR2	1.54757098
16	TRIB3	1.39323968
17	CCNB1	1.38904027
18	PINK1	1.38384879
19	MARK1	1.21506982
20	EEF2K	1.19699262
21	RIPK1	1.15138979
22	MAP2K3	1.15092968
23	NEK9	1.11120476
24	TIE1	1.08858840
25	MAPK7	1.07026583
26	TGFBR2	1.01311415
27	CAMK2G	1.00448673
28	MAP2K1	0.92964289
29	ROCK1	0.91276109
30	CAMK2D	0.87917776
31	PDGFRA	0.87154583
32	PIK3CA	0.86922029
33	LATS2	0.85075790
34	TESK1	0.84742330
35	PRKAA2	0.70246133
36	MAPK4	0.68729785
37	ILK	0.66761078
38	NME1	0.66507890
39	PRKG1	0.64856489
40	CAMK1	0.64332583
41	EPHB2	0.62174300
42	CAMK2A	0.59799552
43	AKT2	0.58397717
44	PRKAA1	0.58271881
45	ROCK2	0.57675483
46	DAPK3	0.56714263
47	CDC42BPA	0.56523875
48	MAPKAPK5	0.55400131
49	PRKD1	0.53416008
50	PAK2	0.52855970
51	PDK2	0.51210432
52	PKN1	0.51136766
53	ARAF	0.51090810
54	KSR2	0.51068164
55	DYRK1B	0.50610160
56	CAMK2B	0.50183971
57	MAP2K4	0.50005054
58	SIK1	0.47803050
59	PAK3	0.47645203
60	NEK1	0.45394976
61	EPHB1	0.42299058
62	PTK2	0.42156448
63	MARK2	0.41014791
64	CAMK4	0.40793930
65	PAK6	0.40094327
66	ERBB3	0.39952475
67	MAP3K12	0.39400534
68	ABL2	0.38549925
69	MAP3K6	0.37533925
70	BCKDK	0.36184894
71	LATS1	0.35857867
72	PRKACB	0.33912741
73	PRKACA	0.32780985
74	MAPK11	0.32484453
75	PKN2	0.31749158
76	PAK4	0.31333656
77	FGFR4	0.30943750
78	PRKG2	0.30512335
79	RPS6KA3	0.29482463
80	MAP3K13	0.28795032
81	GRK5	0.27573743
82	PTK2B	0.27307495
83	MTOR	0.26986572
84	PRKD2	0.26556581
85	MAP3K3	0.25628407
86	PDPK1	0.24259677
87	ICK	0.22006134
88	PRKD3	0.21684764
89	MAP3K5	0.21656670
90	PRKACG	0.19367107
91	SGK3	0.19187042
92	CDK8	0.19019502
93	NLK	0.18859243
94	MAP3K10	0.18805543
95	MAP2K6	0.18749460
96	GRK7	0.18227224
97	PRPF4B	0.16513507
98	MAPK10	0.16402898
99	RPS6KL1	0.14352335
100	RPS6KC1	0.14352335

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	5.18365126
2	Dilated cardiomyopathy_Homo sapiens_hsa05414	4.95689159
3	Cardiac muscle contraction_Homo sapiens_hsa04260	4.20644137
4	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	3.75941964
5	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	3.07245226
6	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	3.04199246
7	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	2.53288080
8	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	2.48353192
9	Circadian rhythm_Homo sapiens_hsa04710	1.81782902
10	ECM-receptor interaction_Homo sapiens_hsa04512	1.81557692
11	Focal adhesion_Homo sapiens_hsa04510	1.77736647
12	Glucagon signaling pathway_Homo sapiens_hsa04922	1.74977100
13	Arginine and proline metabolism_Homo sapiens_hsa00330	1.65552472
14	Oxytocin signaling pathway_Homo sapiens_hsa04921	1.63555881
15	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	1.61555253
16	Carbon metabolism_Homo sapiens_hsa01200	1.61339612
17	Pyruvate metabolism_Homo sapiens_hsa00620	1.58449146
18	Calcium signaling pathway_Homo sapiens_hsa04020	1.49569660
19	Insulin signaling pathway_Homo sapiens_hsa04910	1.45903556
20	Vascular smooth muscle contraction_Homo sapiens_hsa04270	1.36523505
21	Tight junction_Homo sapiens_hsa04530	1.34948750
22	Alzheimers disease_Homo sapiens_hsa05010	1.34640217
23	Parkinsons disease_Homo sapiens_hsa05012	1.33419356
24	Propanoate metabolism_Homo sapiens_hsa00640	1.31601593
25	Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923	1.29784352
26	Fatty acid degradation_Homo sapiens_hsa00071	1.27870796
27	Renin secretion_Homo sapiens_hsa04924	1.23885325
28	Arginine biosynthesis_Homo sapiens_hsa00220	1.22033619
29	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	1.21739668
30	Pentose phosphate pathway_Homo sapiens_hsa00030	1.12490763
31	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	1.09363501
32	AMPK signaling pathway_Homo sapiens_hsa04152	1.07602269
33	Insulin resistance_Homo sapiens_hsa04931	1.05101248
34	Gastric acid secretion_Homo sapiens_hsa04971	1.03630884
35	Phenylalanine metabolism_Homo sapiens_hsa00360	1.01408847
36	Protein digestion and absorption_Homo sapiens_hsa04974	1.00951971
37	PPAR signaling pathway_Homo sapiens_hsa03320	1.00059482
38	Viral myocarditis_Homo sapiens_hsa05416	0.99326909
39	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	0.98818890
40	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.98657627
41	Longevity regulating pathway - multiple species_Homo sapiens_hsa04213	0.97004857
42	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.95015406
43	Oxidative phosphorylation_Homo sapiens_hsa00190	0.94880267
44	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.94742938
45	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.92823221
46	Adipocytokine signaling pathway_Homo sapiens_hsa04920	0.90121351
47	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.86284506
48	Amoebiasis_Homo sapiens_hsa05146	0.85372676
49	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.83526186
50	Fructose and mannose metabolism_Homo sapiens_hsa00051	0.83276632
51	Fatty acid elongation_Homo sapiens_hsa00062	0.76272833
52	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.75954555
53	Proteoglycans in cancer_Homo sapiens_hsa05205	0.74780601
54	Regulation of actin cytoskeleton_Homo sapiens_hsa04810	0.72926943
55	Long-term potentiation_Homo sapiens_hsa04720	0.70539377
56	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.68299891
57	GnRH signaling pathway_Homo sapiens_hsa04912	0.68243177
58	beta-Alanine metabolism_Homo sapiens_hsa00410	0.67857460
59	Circadian entrainment_Homo sapiens_hsa04713	0.65106418
60	Insulin secretion_Homo sapiens_hsa04911	0.63186590
61	Melanogenesis_Homo sapiens_hsa04916	0.62968099
62	Salivary secretion_Homo sapiens_hsa04970	0.62635997
63	Adherens junction_Homo sapiens_hsa04520	0.59490521
64	Fatty acid metabolism_Homo sapiens_hsa01212	0.58300794
65	cAMP signaling pathway_Homo sapiens_hsa04024	0.56480343
66	Longevity regulating pathway - mammal_Homo sapiens_hsa04211	0.54738691
67	Thyroid hormone signaling pathway_Homo sapiens_hsa04919	0.52404304
68	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.52029537
69	Histidine metabolism_Homo sapiens_hsa00340	0.51838245
70	Huntingtons disease_Homo sapiens_hsa05016	0.49949098
71	Gap junction_Homo sapiens_hsa04540	0.48788608
72	Tyrosine metabolism_Homo sapiens_hsa00350	0.47366867
73	Nitrogen metabolism_Homo sapiens_hsa00910	0.46289238
74	Tryptophan metabolism_Homo sapiens_hsa00380	0.41301617
75	AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933	0.40080558
76	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.38770117
77	Pancreatic secretion_Homo sapiens_hsa04972	0.38584969
78	Leukocyte transendothelial migration_Homo sapiens_hsa04670	0.37966564
79	Cholinergic synapse_Homo sapiens_hsa04725	0.37857240
80	MAPK signaling pathway_Homo sapiens_hsa04010	0.37276322
81	Prion diseases_Homo sapiens_hsa05020	0.36094418
82	Amphetamine addiction_Homo sapiens_hsa05031	0.34151564
83	Galactose metabolism_Homo sapiens_hsa00052	0.33874720
84	FoxO signaling pathway_Homo sapiens_hsa04068	0.33861373
85	Renin-angiotensin system_Homo sapiens_hsa04614	0.33796466
86	Lysine degradation_Homo sapiens_hsa00310	0.33453902
87	PI3K-Akt signaling pathway_Homo sapiens_hsa04151	0.32490121
88	Glioma_Homo sapiens_hsa05214	0.29254164
89	Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750	0.28917376
90	Platelet activation_Homo sapiens_hsa04611	0.28107259
91	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	0.25951967
92	Bacterial invasion of epithelial cells_Homo sapiens_hsa05100	0.25690609
93	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	0.23768191
94	Bile secretion_Homo sapiens_hsa04976	0.22771449
95	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	0.20725430
96	Long-term depression_Homo sapiens_hsa04730	0.20411941
97	Central carbon metabolism in cancer_Homo sapiens_hsa05230	0.19447535
98	Thyroid hormone synthesis_Homo sapiens_hsa04918	0.19250751
99	Estrogen signaling pathway_Homo sapiens_hsa04915	0.16698573
100	Phospholipase D signaling pathway_Homo sapiens_hsa04072	0.15674155

HSPB2-C11ORF52

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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