ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	muscle filament sliding (GO:0030049)	5.63964137
2	actin-myosin filament sliding (GO:0033275)	5.63964137
3	sarcoplasmic reticulum calcium ion transport (GO:0070296)	4.91629430
4	actin-mediated cell contraction (GO:0070252)	4.71080602
5	positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)	4.55657176
6	myofibril assembly (GO:0030239)	4.45671230
7	cardiac myofibril assembly (GO:0055003)	4.42074109
8	sarcomere organization (GO:0045214)	4.16854025
9	regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	3.94673895
10	cardiac muscle contraction (GO:0060048)	3.93438717
11	striated muscle contraction (GO:0006941)	3.81385640
12	actin filament-based movement (GO:0030048)	3.71060407
13	regulation of skeletal muscle contraction (GO:0014819)	3.69522708
14	response to stimulus involved in regulation of muscle adaptation (GO:0014874)	3.63200464
15	skeletal muscle contraction (GO:0003009)	3.59765289
16	cardiac muscle hypertrophy (GO:0003300)	3.58670071
17	regulation of relaxation of muscle (GO:1901077)	3.58399750
18	cell communication by electrical coupling involved in cardiac conduction (GO:0086064)	3.54637529
19	synaptic vesicle docking involved in exocytosis (GO:0016081)	3.53509925
20	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO	3.50298415
21	sodium ion export (GO:0071436)	3.47860424
22	regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)	3.46034591
23	regulation of actin filament-based movement (GO:1903115)	3.44860575
24	regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	3.43654762
25	striated muscle hypertrophy (GO:0014897)	3.42397718
26	actomyosin structure organization (GO:0031032)	3.36966824
27	membrane depolarization during cardiac muscle cell action potential (GO:0086012)	3.36679989
28	regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)	3.34711910
29	regulation of cell communication by electrical coupling (GO:0010649)	3.33328173
30	regulation of the force of heart contraction (GO:0002026)	3.20361548
31	cell communication by electrical coupling (GO:0010644)	3.18206953
32	muscle contraction (GO:0006936)	3.16955095
33	cytoskeletal anchoring at plasma membrane (GO:0007016)	3.14932274
34	cardiac muscle adaptation (GO:0014887)	3.13864519
35	cardiac muscle hypertrophy in response to stress (GO:0014898)	3.13864519
36	muscle hypertrophy in response to stress (GO:0003299)	3.13864519
37	positive regulation of myotube differentiation (GO:0010831)	3.13723321
38	response to inactivity (GO:0014854)	3.09719894
39	muscle hypertrophy (GO:0014896)	3.05715331
40	cellular response to epinephrine stimulus (GO:0071872)	3.01099154
41	creatine metabolic process (GO:0006600)	2.97201798
42	plasma membrane repair (GO:0001778)	2.96651772
43	response to muscle activity (GO:0014850)	2.96590059
44	muscle system process (GO:0003012)	2.91146497
45	cellular potassium ion homeostasis (GO:0030007)	2.90239392
46	positive regulation of calcium ion transmembrane transporter activity (GO:1901021)	2.88176201
47	striated muscle adaptation (GO:0014888)	2.86604011
48	peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	2.80164936
49	negative regulation of inclusion body assembly (GO:0090084)	2.78932010
50	skeletal muscle fiber development (GO:0048741)	2.77564759
51	regulation of striated muscle contraction (GO:0006942)	2.75302761
52	response to epinephrine (GO:0071871)	2.67741281
53	negative regulation of potassium ion transmembrane transporter activity (GO:1901017)	2.65674922
54	cell migration involved in heart development (GO:0060973)	2.64216712
55	activation of protein kinase A activity (GO:0034199)	2.61171928
56	muscle tissue morphogenesis (GO:0060415)	2.61165939
57	focal adhesion assembly (GO:0048041)	2.60912981
58	cell-substrate adherens junction assembly (GO:0007045)	2.60912981
59	metanephric mesenchyme development (GO:0072075)	2.58703746
60	barbed-end actin filament capping (GO:0051016)	2.57895052
61	adherens junction assembly (GO:0034333)	2.56729727
62	regulation of calcium ion transmembrane transport (GO:1903169)	2.55581589
63	regulation of calcium ion transmembrane transporter activity (GO:1901019)	2.55581589
64	kidney mesenchyme development (GO:0072074)	2.55311673
65	stress fiber assembly (GO:0043149)	2.54268917
66	cell communication involved in cardiac conduction (GO:0086065)	2.53740299
67	skeletal muscle adaptation (GO:0043501)	2.48963950
68	cerebellar granule cell differentiation (GO:0021707)	2.48452714
69	extracellular matrix assembly (GO:0085029)	2.47397972
70	cardiac muscle tissue morphogenesis (GO:0055008)	2.47046268
71	glutamate secretion (GO:0014047)	2.45915704
72	sperm capacitation (GO:0048240)	2.45234647
73	myelination in peripheral nervous system (GO:0022011)	2.44241004
74	peripheral nervous system axon ensheathment (GO:0032292)	2.44241004
75	cGMP-mediated signaling (GO:0019934)	2.43549548
76	regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)	2.43050173
77	protein heterotrimerization (GO:0070208)	2.42587615
78	myotube cell development (GO:0014904)	2.42492803
79	muscle adaptation (GO:0043500)	2.42455832
80	negative regulation of protein localization to cell surface (GO:2000009)	2.41202633
81	regulation of skeletal muscle cell differentiation (GO:2001014)	2.39676779
82	myoblast fusion (GO:0007520)	2.38593183
83	cartilage development involved in endochondral bone morphogenesis (GO:0060351)	2.38442068
84	insulin-like growth factor receptor signaling pathway (GO:0048009)	2.37774459
85	regulation of calcineurin-NFAT signaling cascade (GO:0070884)	2.37768947
86	cell-substrate junction assembly (GO:0007044)	2.37393277
87	neuronal ion channel clustering (GO:0045161)	2.37176504
88	muscle organ development (GO:0007517)	2.36324653
89	cellular response to monoamine stimulus (GO:0071868)	2.34491915
90	cellular response to catecholamine stimulus (GO:0071870)	2.34491915
91	protein targeting to plasma membrane (GO:0072661)	2.34145226
92	skeletal muscle tissue development (GO:0007519)	2.33581231
93	locomotory exploration behavior (GO:0035641)	2.33515865
94	negative regulation of potassium ion transmembrane transport (GO:1901380)	2.33248711
95	muscle structure development (GO:0061061)	2.30911404
96	syncytium formation by plasma membrane fusion (GO:0000768)	2.29353193
97	relaxation of muscle (GO:0090075)	2.29275667
98	positive regulation of synapse maturation (GO:0090129)	2.29248713
99	synaptic vesicle maturation (GO:0016188)	2.28791573
100	NADH metabolic process (GO:0006734)	2.27923115

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse	3.06752574
2	EZH2_22144423_ChIP-Seq_EOC_Human	2.94367995
3	RARG_19884340_ChIP-ChIP_MEFs_Mouse	2.94304882
4	MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human	2.65046065
5	TRIM28_21343339_ChIP-Seq_HEK293_Human	2.38905362
6	DROSHA_22980978_ChIP-Seq_HELA_Human	2.19771703
7	LXR_22292898_ChIP-Seq_THP-1_Human	2.08399346
8	EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	2.07311028
9	EZH2_18974828_ChIP-Seq_MESCs_Mouse	1.94840830
10	RNF2_18974828_ChIP-Seq_MESCs_Mouse	1.94840830
11	MTF2_20144788_ChIP-Seq_MESCs_Mouse	1.92506745
12	PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse	1.89800575
13	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	1.87893749
14	ESR2_21235772_ChIP-Seq_MCF-7_Human	1.85682779
15	TBX20_22080862_ChIP-Seq_HEART_Mouse	1.81072285
16	TBX20_22328084_ChIP-Seq_HEART_Mouse	1.81072285
17	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.80857228
18	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.79383644
19	SUZ12_20075857_ChIP-Seq_MESCs_Mouse	1.79278229
20	KDM2B_26808549_Chip-Seq_SUP-B15_Human	1.79113783
21	SUZ12_18692474_ChIP-Seq_MEFs_Mouse	1.72115586
22	RUNX2_24764292_ChIP-Seq_MC3T3_Mouse	1.71648055
23	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.70340890
24	KDM2B_26808549_Chip-Seq_K562_Human	1.70044530
25	TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	1.69651166
26	SUZ12_18974828_ChIP-Seq_MESCs_Mouse	1.69436882
27	EP300_21415370_ChIP-Seq_HL-1_Mouse	1.67958708
28	SUZ12_27294783_Chip-Seq_ESCs_Mouse	1.63315409
29	EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse	1.62447704
30	RNF2_27304074_Chip-Seq_ESCs_Mouse	1.58843272
31	TFAP2C_20629094_ChIP-Seq_MCF-7_Human	1.58214543
32	RARB_27405468_Chip-Seq_BRAIN_Mouse	1.57073804
33	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.54480308
34	ESR1_22446102_ChIP-Seq_UTERUS_Mouse	1.53511842
35	NFIB_24661679_ChIP-Seq_LUNG_Mouse	1.52479292
36	WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse	1.50921108
37	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.50894580
38	ZFP281_18757296_ChIP-ChIP_E14_Mouse	1.49908243
39	* CTCF_27219007_Chip-Seq_Bcells_Human	1.49817007
40	* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human	1.49742526
41	JARID2_20064375_ChIP-Seq_MESCs_Mouse	1.46213301
42	SMAD3_22036565_ChIP-Seq_ESCs_Mouse	1.44140384
43	BP1_19119308_ChIP-ChIP_Hs578T_Human	1.40876029
44	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	1.38969728
45	DNAJC2_21179169_ChIP-ChIP_NT2_Human	1.38604545
46	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.37055740
47	KDM2B_26808549_Chip-Seq_DND41_Human	1.33632773
48	ERG_21242973_ChIP-ChIP_JURKAT_Human	1.32609872
49	CDX2_19796622_ChIP-Seq_MESCs_Mouse	1.32386846
50	TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.31675963
51	PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse	1.30266399
52	NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse	1.28583175
53	SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse	1.28090713
54	SMC4_20622854_ChIP-Seq_HELA_Human	1.26591140
55	TP53_23651856_ChIP-Seq_MEFs_Mouse	1.25770716
56	TET1_21490601_ChIP-Seq_MESCs_Mouse	1.25319773
57	* ELK3_25401928_ChIP-Seq_HUVEC_Human	1.23160215
58	CLOCK_20551151_ChIP-Seq_293T_Human	1.19466827
59	* UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human	1.17499533
60	ZFP281_27345836_Chip-Seq_ESCs_Mouse	1.17392573
61	SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	1.17087136
62	RACK7_27058665_Chip-Seq_MCF-7_Human	1.14286924
63	TP53_20018659_ChIP-ChIP_R1E_Mouse	1.13089977
64	PPARG_19300518_ChIP-PET_3T3-L1_Mouse	1.12366407
65	WT1_25993318_ChIP-Seq_PODOCYTE_Human	1.11818196
66	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	1.11348231
67	SMC3_22415368_ChIP-Seq_MEFs_Mouse	1.10760682
68	* P300_27058665_Chip-Seq_ZR-75-30cells_Human	1.09972641
69	SMC1_22415368_ChIP-Seq_MEFs_Mouse	1.07012328
70	SOX9_24532713_ChIP-Seq_HFSC_Mouse	1.06222004
71	RING1B_27294783_Chip-Seq_ESCs_Mouse	1.01334197
72	TCF7_22412390_ChIP-Seq_EML_Mouse	1.01141239
73	KDM2B_26808549_Chip-Seq_JURKAT_Human	1.00059252
74	NR1I2_20693526_ChIP-Seq_LIVER_Mouse	0.99999485
75	KDM2B_26808549_Chip-Seq_SIL-ALL_Human	0.99656749
76	GATA2_21666600_ChIP-Seq_HMVEC_Human	0.99176619
77	SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse	0.98553617
78	TP63_22573176_ChIP-Seq_HFKS_Human	0.97941399
79	ZFP281_18358816_ChIP-ChIP_MESCs_Mouse	0.97442982
80	STAT6_21828071_ChIP-Seq_BEAS2B_Human	0.95701805
81	* CREB1_26743006_Chip-Seq_LNCaP-abl_Human	0.95235059
82	CTNNB1_20460455_ChIP-Seq_HCT116_Human	0.95217224
83	* SA1_27219007_Chip-Seq_ERYTHROID_Human	0.95157836
84	* CTCF_27219007_Chip-Seq_ERYTHROID_Human	0.94550008
85	P68_20966046_ChIP-Seq_HELA_Human	0.94316528
86	RAD21_21589869_ChIP-Seq_MESCs_Mouse	0.93439210
87	PHC1_16625203_ChIP-ChIP_MESCs_Mouse	0.93317601
88	FOXO1_23066095_ChIP-Seq_LIVER_Mouse	0.92846885
89	TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse	0.91865152
90	DMRT1_23473982_ChIP-Seq_TESTES_Mouse	0.91059495
91	OLIG2_26023283_ChIP-Seq_AINV15_Mouse	0.87934516
92	RING1B_27294783_Chip-Seq_NPCs_Mouse	0.87560455
93	PPARG_20176806_ChIP-Seq_3T3-L1_Mouse	0.87500614
94	CJUN_26792858_Chip-Seq_BT549_Human	0.86743557
95	TCF3_18467660_ChIP-ChIP_MESCs_Mouse	0.85596905
96	CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse	0.84248265
97	SMAD_19615063_ChIP-ChIP_OVARY_Human	0.83953150
98	ESRRB_18555785_ChIP-Seq_MESCs_Mouse	0.83235913
99	MYC_27129775_Chip-Seq_CORNEA_Mouse	0.82802426
100	GATA1_19941827_ChIP-Seq_MEL_Mouse	0.82577473

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0000751_myopathy	5.05902375
2	MP0008438_abnormal_cutaneous_collagen	3.90471663
3	MP0000749_muscle_degeneration	3.67779239
4	MP0004036_abnormal_muscle_relaxation	3.20164141
5	MP0003705_abnormal_hypodermis_morpholog	3.07645607
6	MP0004084_abnormal_cardiac_muscle	3.04685905
7	MP0003646_muscle_fatigue	2.95745675
8	MP0004145_abnormal_muscle_electrophysio	2.78031982
9	MP0001958_emphysema	2.50226731
10	MP0004087_abnormal_muscle_fiber	2.43262736
11	MP0004859_abnormal_synaptic_plasticity	2.41325443
12	MP0000759_abnormal_skeletal_muscle	2.38848805
13	MP0000747_muscle_weakness	2.38260415
14	MP0005503_abnormal_tendon_morphology	2.36385413
15	MP0003279_aneurysm	2.34225677
16	MP0005275_abnormal_skin_tensile	2.26336767
17	MP0005670_abnormal_white_adipose	2.24370291
18	MP0004130_abnormal_muscle_cell	2.23058377
19	MP0004510_myositis	2.11373215
20	MP0002106_abnormal_muscle_physiology	2.01451083
21	MP0005620_abnormal_muscle_contractility	2.00103077
22	MP0002269_muscular_atrophy	1.99396493
23	MP0005330_cardiomyopathy	1.95323237
24	MP0005451_abnormal_body_composition	1.87995343
25	MP0009780_abnormal_chondrocyte_physiolo	1.86125158
26	MP0005369_muscle_phenotype	1.85599698
27	MP0004270_analgesia	1.85560565
28	MP0002108_abnormal_muscle_morphology	1.82915293
29	MP0000750_abnormal_muscle_regeneration	1.77902162
30	MP0004233_abnormal_muscle_weight	1.77159535
31	MP0002972_abnormal_cardiac_muscle	1.70925624
32	MP0000733_abnormal_muscle_development	1.68907454
33	MP0004215_abnormal_myocardial_fiber	1.68228349
34	MP0002837_dystrophic_cardiac_calcinosis	1.62007322
35	MP0006138_congestive_heart_failure	1.61615671
36	MP0002332_abnormal_exercise_endurance	1.57586258
37	MP0000013_abnormal_adipose_tissue	1.53902595
38	MP0003329_amyloid_beta_deposits	1.47536858
39	MP0004272_abnormal_basement_membrane	1.46931028
40	MP0005623_abnormal_meninges_morphology	1.39019503
41	MP0005423_abnormal_somatic_nervous	1.36691936
42	MP0004484_altered_response_of	1.35320442
43	MP0003879_abnormal_hair_cell	1.35014858
44	MP0010630_abnormal_cardiac_muscle	1.32729682
45	MP0005410_abnormal_fertilization	1.32148320
46	MP0001348_abnormal_lacrimal_gland	1.31421418
47	MP0010368_abnormal_lymphatic_system	1.29714235
48	MP0008569_lethality_at_weaning	1.26524573
49	MP0003137_abnormal_impulse_conducting	1.26100368
50	MP0000003_abnormal_adipose_tissue	1.25109315
51	MP0003091_abnormal_cell_migration	1.22896069
52	MP0005375_adipose_tissue_phenotype	1.22683125
53	MP0002127_abnormal_cardiovascular_syste	1.20535841
54	MP0003690_abnormal_glial_cell	1.19626402
55	MP0005666_abnormal_adipose_tissue	1.19284544
56	MP0003828_pulmonary_edema	1.16128603
57	MP0005385_cardiovascular_system_phenoty	1.12998667
58	MP0001544_abnormal_cardiovascular_syste	1.12998667
59	MP0003635_abnormal_synaptic_transmissio	1.12094637
60	MP0009384_cardiac_valve_regurgitation	1.11550948
61	MP0003566_abnormal_cell_adhesion	1.08692869
62	MP0000767_abnormal_smooth_muscle	1.07807586
63	MP0005595_abnormal_vascular_smooth	1.07395316
64	MP0003950_abnormal_plasma_membrane	1.06310639
65	MP0001299_abnormal_eye_distance/	1.05301521
66	MP0002295_abnormal_pulmonary_circulatio	0.99167802
67	MP0002971_abnormal_brown_adipose	0.98893028
68	MP0002896_abnormal_bone_mineralization	0.98145461
69	MP0005167_abnormal_blood-brain_barrier	0.97982672
70	MP0004858_abnormal_nervous_system	0.97978813
71	MP0005257_abnormal_intraocular_pressure	0.97782648
72	MP0000920_abnormal_myelination	0.97730373
73	MP0005409_darkened_coat_color	0.95494960
74	MP0005165_increased_susceptibility_to	0.93961183
75	MP0002249_abnormal_larynx_morphology	0.92760083
76	MP0004085_abnormal_heartbeat	0.92426035
77	MP0008775_abnormal_heart_ventricle	0.91877396
78	MP0002734_abnormal_mechanical_nocicepti	0.86440440
79	MP0003045_fibrosis	0.86022711
80	MP0002064_seizures	0.84677834
81	MP0003634_abnormal_glial_cell	0.84632863
82	MP0001486_abnormal_startle_reflex	0.82741491
83	MP0003075_altered_response_to	0.79846942
84	MP0005508_abnormal_skeleton_morphology	0.78902476
85	MP0000534_abnormal_ureter_morphology	0.77518863
86	MP0002063_abnormal_learning/memory/cond	0.76978629
87	MP0009840_abnormal_foam_cell	0.75313403
88	MP0001849_ear_inflammation	0.72135859
89	MP0001542_abnormal_bone_strength	0.71834390
90	MP0005171_absent_coat_pigmentation	0.71437587
91	MP0000604_amyloidosis	0.69095584
92	MP0005023_abnormal_wound_healing	0.68826454
93	MP0002060_abnormal_skin_morphology	0.67283118
94	MP0000343_altered_response_to	0.66286167
95	MP0005058_abnormal_lysosome_morphology	0.64431575
96	MP0003633_abnormal_nervous_system	0.64322305
97	MP0002272_abnormal_nervous_system	0.63305850
98	MP0005166_decreased_susceptibility_to	0.60679539
99	MP0008874_decreased_physiological_sensi	0.60622841
100	MP0002128_abnormal_blood_circulation	0.60435964

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Type 1 muscle fiber predominance (HP:0003803)	6.55161912
2	Muscle fiber inclusion bodies (HP:0100299)	6.01748768
3	Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)	5.96793758
4	Nemaline bodies (HP:0003798)	5.94856792
5	Exercise-induced myalgia (HP:0003738)	5.02350309
6	Hyporeflexia of lower limbs (HP:0002600)	4.39985516
7	Muscle fiber splitting (HP:0003555)	4.36330570
8	Asymmetric septal hypertrophy (HP:0001670)	4.23370287
9	Increased variability in muscle fiber diameter (HP:0003557)	4.19758764
10	Abnormality of skeletal muscle fiber size (HP:0012084)	4.13774814
11	Increased connective tissue (HP:0009025)	4.05858255
12	Protrusio acetabuli (HP:0003179)	3.88044546
13	Round ear (HP:0100830)	3.86987355
14	Distal lower limb muscle weakness (HP:0009053)	3.77319983
15	EMG: myopathic abnormalities (HP:0003458)	3.72026183
16	Exercise-induced muscle cramps (HP:0003710)	3.66600613
17	Sudden death (HP:0001699)	3.65190253
18	Centrally nucleated skeletal muscle fibers (HP:0003687)	3.53213250
19	Bundle branch block (HP:0011710)	3.48924447
20	Abnormality of the calf musculature (HP:0001430)	3.44056208
21	Muscle hypertrophy of the lower extremities (HP:0008968)	3.36131067
22	Spinal rigidity (HP:0003306)	3.32653554
23	Distal arthrogryposis (HP:0005684)	3.31235104
24	Premature rupture of membranes (HP:0001788)	3.27613382
25	Myopathic facies (HP:0002058)	3.21684437
26	Neck muscle weakness (HP:0000467)	3.17428067
27	Mildly elevated creatine phosphokinase (HP:0008180)	3.16474741
28	Calf muscle hypertrophy (HP:0008981)	3.13270351
29	Ulnar deviation of the wrist (HP:0003049)	3.06660572
30	Ventricular tachycardia (HP:0004756)	3.04535647
31	Difficulty running (HP:0009046)	3.02887041
32	Aortic aneurysm (HP:0004942)	2.92546279
33	Distal lower limb amyotrophy (HP:0008944)	2.92157272
34	Subaortic stenosis (HP:0001682)	2.91399990
35	Abnormality of the left ventricular outflow tract (HP:0011103)	2.91399990
36	Slender build (HP:0001533)	2.85822520
37	Rhabdomyolysis (HP:0003201)	2.74837208
38	Myoglobinuria (HP:0002913)	2.72092455
39	Lower limb amyotrophy (HP:0007210)	2.63144011
40	Cerebral aneurysm (HP:0004944)	2.58164361
41	Abnormal atrioventricular conduction (HP:0005150)	2.52130929
42	Frequent falls (HP:0002359)	2.51125491
43	Obstructive sleep apnea (HP:0002870)	2.48696770
44	Lipoatrophy (HP:0100578)	2.47602059
45	Difficulty climbing stairs (HP:0003551)	2.47058426
46	Myotonia (HP:0002486)	2.43346270
47	Heart block (HP:0012722)	2.43327736
48	Calcaneovalgus deformity (HP:0001848)	2.40224134
49	Atrial fibrillation (HP:0005110)	2.39746254
50	Scapular winging (HP:0003691)	2.33158649
51	Shallow orbits (HP:0000586)	2.28456723
52	Muscle stiffness (HP:0003552)	2.28274408
53	Aortic dissection (HP:0002647)	2.28243270
54	EMG: neuropathic changes (HP:0003445)	2.27883723
55	Vascular tortuosity (HP:0004948)	2.27814383
56	Foot dorsiflexor weakness (HP:0009027)	2.22108053
57	Primary atrial arrhythmia (HP:0001692)	2.19078783
58	Dilated cardiomyopathy (HP:0001644)	2.18218621
59	Abnormality of the foot musculature (HP:0001436)	2.18023286
60	Deformed tarsal bones (HP:0008119)	2.16758818
61	Ankle contracture (HP:0006466)	2.16647518
62	Broad metatarsal (HP:0001783)	2.15861059
63	Bulbar palsy (HP:0001283)	2.14390232
64	Supraventricular tachycardia (HP:0004755)	2.11222620
65	Atrioventricular block (HP:0001678)	2.09060899
66	Supraventricular arrhythmia (HP:0005115)	2.08415191
67	Bladder diverticulum (HP:0000015)	2.08162919
68	Atrophic scars (HP:0001075)	2.06750030
69	Arterial tortuosity (HP:0005116)	1.99724692
70	Hip contracture (HP:0003273)	1.98457092
71	Ventricular arrhythmia (HP:0004308)	1.94225900
72	Areflexia of lower limbs (HP:0002522)	1.92101540
73	Fragile skin (HP:0001030)	1.91097279
74	Rimmed vacuoles (HP:0003805)	1.90972046
75	Generalized muscle weakness (HP:0003324)	1.90125486
76	Bell-shaped thorax (HP:0001591)	1.88183474
77	Limb-girdle muscle weakness (HP:0003325)	1.87792580
78	Gowers sign (HP:0003391)	1.87317528
79	Wormian bones (HP:0002645)	1.84379491
80	Malignant hyperthermia (HP:0002047)	1.82884001
81	Vertebral compression fractures (HP:0002953)	1.80628081
82	Overgrowth (HP:0001548)	1.80443923
83	Fetal akinesia sequence (HP:0001989)	1.79767669
84	Mitral regurgitation (HP:0001653)	1.79186954
85	Aneurysm (HP:0002617)	1.78198248
86	Hypoplasia of the iris (HP:0007676)	1.77125085
87	Achilles tendon contracture (HP:0001771)	1.76553709
88	Limited hip movement (HP:0008800)	1.75628844
89	Generalized amyotrophy (HP:0003700)	1.75445315
90	Absent phalangeal crease (HP:0006109)	1.73975207
91	Muscular dystrophy (HP:0003560)	1.73359825
92	Soft skin (HP:0000977)	1.72453636
93	Waddling gait (HP:0002515)	1.67643900
94	Dilatation of the ascending aorta (HP:0005111)	1.67619623
95	Bradycardia (HP:0001662)	1.65756629
96	Turricephaly (HP:0000262)	1.65502120
97	Neurofibrillary tangles (HP:0002185)	1.64881706
98	Stridor (HP:0010307)	1.64761728
99	Syncope (HP:0001279)	1.64205333
100	Distal upper limb amyotrophy (HP:0007149)	1.64059433

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	TTN	4.68688284
2	OBSCN	4.57762383
3	PHKG1	3.00421036
4	PHKG2	3.00421036
5	RIPK1	2.61464577
6	DDR2	2.58358092
7	TRIB3	2.37017318
8	TESK1	2.23819834
9	MYLK	2.01630828
10	MARK1	1.99245186
11	PRKD3	1.89992587
12	PDGFRA	1.89891938
13	PAK6	1.70933415
14	PRPF4B	1.69450225
15	LATS2	1.68699113
16	MAPK12	1.67643582
17	PIK3CG	1.61268615
18	STK38	1.54026912
19	KSR2	1.46169302
20	DMPK	1.41298062
21	NTRK1	1.37904945
22	ICK	1.25298473
23	MAP3K7	1.24924085
24	MAP2K3	1.24737133
25	NTRK3	1.22772188
26	EEF2K	1.19628877
27	MARK2	1.19396857
28	LIMK1	1.15977952
29	NEK9	1.14902699
30	MOS	1.13364298
31	ROCK1	1.11799826
32	ARAF	1.10462629
33	MUSK	1.10389818
34	CDC42BPA	1.07232144
35	PDPK1	1.05920381
36	CAMK2G	1.05495419
37	TGFBR2	1.04300975
38	PINK1	1.02308428
39	EPHA4	1.01357057
40	ERN1	0.99096381
41	DAPK2	0.98049549
42	CAMK1	0.97504451
43	SIK1	0.95672257
44	UHMK1	0.93653385
45	MAP3K13	0.93563293
46	TRPM7	0.92001830
47	RPS6KA2	0.91075016
48	ROCK2	0.86894879
49	MAPK7	0.85384881
50	PRKD2	0.83155187
51	PKN1	0.82781772
52	SGK3	0.81022268
53	CAMK2B	0.79666963
54	PAK2	0.78764948
55	EPHB1	0.78298957
56	PTK2	0.77988431
57	CAMK2D	0.75967517
58	PRKG2	0.73368893
59	PDK1	0.69178396
60	PRKD1	0.69033433
61	MAP3K6	0.68940742
62	MAPKAPK3	0.67938577
63	MTOR	0.67529368
64	CAMK4	0.67342321
65	MAP3K11	0.66619455
66	SGK223	0.66140439
67	SGK494	0.66140439
68	MAPK4	0.65315537
69	TIE1	0.64993279
70	PRKAA2	0.64447389
71	DAPK3	0.63905901
72	MAP3K1	0.61823754
73	PDGFRB	0.61348325
74	WNK1	0.60762488
75	LMTK2	0.60599076
76	DYRK1B	0.59425830
77	ABL2	0.59363608
78	MAP2K1	0.58333887
79	RPS6KC1	0.57229773
80	RPS6KL1	0.57229773
81	PTK2B	0.56675633
82	MAP2K4	0.54854051
83	NTRK2	0.53737678
84	TYRO3	0.53194887
85	PRKCH	0.53061701
86	SGK2	0.53027834
87	CAMK2A	0.52549215
88	MAPK10	0.51988948
89	MAP3K3	0.51474072
90	CAMK1G	0.51182071
91	PRKAA1	0.51155990
92	GRK5	0.51075395
93	CDK5	0.49731626
94	CAMKK1	0.49519577
95	TAOK2	0.48689823
96	PRKG1	0.47640687
97	MAP3K9	0.45186166
98	EPHB2	0.40956978
99	RET	0.40819444
100	AKT2	0.40679637

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Dilated cardiomyopathy_Homo sapiens_hsa05414	3.01497652
2	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	2.83719725
3	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	2.17353618
4	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	2.11194655
5	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	2.02628229
6	Cardiac muscle contraction_Homo sapiens_hsa04260	1.73195680
7	ECM-receptor interaction_Homo sapiens_hsa04512	1.70942309
8	Focal adhesion_Homo sapiens_hsa04510	1.69277084
9	Long-term potentiation_Homo sapiens_hsa04720	1.62738892
10	Gastric acid secretion_Homo sapiens_hsa04971	1.60602428
11	Oxytocin signaling pathway_Homo sapiens_hsa04921	1.56986596
12	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	1.51762441
13	Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923	1.44213290
14	Calcium signaling pathway_Homo sapiens_hsa04020	1.43671815
15	Circadian entrainment_Homo sapiens_hsa04713	1.41569917
16	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	1.40480736
17	Renin secretion_Homo sapiens_hsa04924	1.35671051
18	Insulin secretion_Homo sapiens_hsa04911	1.34232983
19	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	1.31993554
20	Vascular smooth muscle contraction_Homo sapiens_hsa04270	1.31710218
21	GnRH signaling pathway_Homo sapiens_hsa04912	1.30813414
22	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	1.29319004
23	Synaptic vesicle cycle_Homo sapiens_hsa04721	1.26443382
24	Insulin signaling pathway_Homo sapiens_hsa04910	1.22396555
25	Longevity regulating pathway - multiple species_Homo sapiens_hsa04213	1.18524347
26	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	1.17136414
27	Circadian rhythm_Homo sapiens_hsa04710	1.14504996
28	cAMP signaling pathway_Homo sapiens_hsa04024	1.12651797
29	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532	1.12054908
30	Glioma_Homo sapiens_hsa05214	1.11662712
31	Thyroid hormone signaling pathway_Homo sapiens_hsa04919	1.10164237
32	Estrogen signaling pathway_Homo sapiens_hsa04915	1.09489340
33	Phospholipase D signaling pathway_Homo sapiens_hsa04072	1.09056905
34	Glucagon signaling pathway_Homo sapiens_hsa04922	1.07673561
35	Adipocytokine signaling pathway_Homo sapiens_hsa04920	1.06828192
36	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	1.06225119
37	Cholinergic synapse_Homo sapiens_hsa04725	1.06189192
38	Prion diseases_Homo sapiens_hsa05020	1.04749048
39	Amoebiasis_Homo sapiens_hsa05146	1.04467480
40	Salivary secretion_Homo sapiens_hsa04970	1.02616916
41	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	1.02511671
42	Amphetamine addiction_Homo sapiens_hsa05031	1.01635339
43	VEGF signaling pathway_Homo sapiens_hsa04370	1.01384042
44	Glutamatergic synapse_Homo sapiens_hsa04724	1.00856432
45	GABAergic synapse_Homo sapiens_hsa04727	0.99277356
46	Morphine addiction_Homo sapiens_hsa05032	0.99264077
47	AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933	0.98118220
48	Melanogenesis_Homo sapiens_hsa04916	0.96235619
49	AMPK signaling pathway_Homo sapiens_hsa04152	0.94553394
50	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.92892629
51	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.92840686
52	Gap junction_Homo sapiens_hsa04540	0.91760544
53	Protein digestion and absorption_Homo sapiens_hsa04974	0.90400799
54	Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750	0.89328429
55	PPAR signaling pathway_Homo sapiens_hsa03320	0.88568214
56	Arginine and proline metabolism_Homo sapiens_hsa00330	0.87148535
57	Regulation of actin cytoskeleton_Homo sapiens_hsa04810	0.87124019
58	Arginine biosynthesis_Homo sapiens_hsa00220	0.85890215
59	Insulin resistance_Homo sapiens_hsa04931	0.85177563
60	Neurotrophin signaling pathway_Homo sapiens_hsa04722	0.84960164
61	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	0.83995192
62	Proteoglycans in cancer_Homo sapiens_hsa05205	0.81528820
63	Longevity regulating pathway - mammal_Homo sapiens_hsa04211	0.80891053
64	Glycosaminoglycan degradation_Homo sapiens_hsa00531	0.80162319
65	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	0.79342818
66	Tight junction_Homo sapiens_hsa04530	0.79037296
67	MAPK signaling pathway_Homo sapiens_hsa04010	0.79027053
68	Cocaine addiction_Homo sapiens_hsa05030	0.76389129
69	Bile secretion_Homo sapiens_hsa04976	0.73927765
70	mTOR signaling pathway_Homo sapiens_hsa04150	0.73849477
71	Dopaminergic synapse_Homo sapiens_hsa04728	0.73283596
72	Adherens junction_Homo sapiens_hsa04520	0.69134184
73	Endocytosis_Homo sapiens_hsa04144	0.68992098
74	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	0.67539324
75	ErbB signaling pathway_Homo sapiens_hsa04012	0.67407139
76	Pancreatic secretion_Homo sapiens_hsa04972	0.65730642
77	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.65290430
78	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.64758522
79	Central carbon metabolism in cancer_Homo sapiens_hsa05230	0.63868320
80	Inositol phosphate metabolism_Homo sapiens_hsa00562	0.63544463
81	Other glycan degradation_Homo sapiens_hsa00511	0.62832961
82	Platelet activation_Homo sapiens_hsa04611	0.61216495
83	Rap1 signaling pathway_Homo sapiens_hsa04015	0.60949447
84	Renal cell carcinoma_Homo sapiens_hsa05211	0.59642653
85	Long-term depression_Homo sapiens_hsa04730	0.59529989
86	Type II diabetes mellitus_Homo sapiens_hsa04930	0.58564175
87	Thyroid hormone synthesis_Homo sapiens_hsa04918	0.56299989
88	Bacterial invasion of epithelial cells_Homo sapiens_hsa05100	0.56269230
89	Endometrial cancer_Homo sapiens_hsa05213	0.56155877
90	Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014	0.55426063
91	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.55184596
92	Axon guidance_Homo sapiens_hsa04360	0.54531298
93	Leukocyte transendothelial migration_Homo sapiens_hsa04670	0.54400873
94	Phenylalanine metabolism_Homo sapiens_hsa00360	0.54303378
95	Chronic myeloid leukemia_Homo sapiens_hsa05220	0.52938919
96	Notch signaling pathway_Homo sapiens_hsa04330	0.52291865
97	Carbon metabolism_Homo sapiens_hsa01200	0.51854784
98	Choline metabolism in cancer_Homo sapiens_hsa05231	0.51609195
99	Olfactory transduction_Homo sapiens_hsa04740	0.48791708
100	Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666	0.48019413

ZBTB47

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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