ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	regulation of calcineurin-NFAT signaling cascade (GO:0070884)	5.75914192
2	positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)	5.60184376
3	regulation of skeletal muscle contraction (GO:0014819)	5.26895740
4	actin-myosin filament sliding (GO:0033275)	4.99696592
5	muscle filament sliding (GO:0030049)	4.99696592
6	regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	4.78940801
7	myofibril assembly (GO:0030239)	4.70214931
8	regulation of relaxation of muscle (GO:1901077)	4.57187833
9	positive regulation of glycolytic process (GO:0045821)	4.54126206
10	sarcoplasmic reticulum calcium ion transport (GO:0070296)	4.38085821
11	actin-mediated cell contraction (GO:0070252)	4.25954452
12	sarcomere organization (GO:0045214)	4.25842009
13	response to stimulus involved in regulation of muscle adaptation (GO:0014874)	4.21503533
14	peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	4.14351010
15	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO	4.11876259
16	regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)	4.11149911
17	regulation of cell communication by electrical coupling (GO:0010649)	4.06165080
18	cardiac myofibril assembly (GO:0055003)	4.06095737
19	fatty acid transmembrane transport (GO:1902001)	3.82893946
20	skeletal muscle adaptation (GO:0043501)	3.82157443
21	interkinetic nuclear migration (GO:0022027)	3.76563284
22	carnitine shuttle (GO:0006853)	3.66814140
23	response to inactivity (GO:0014854)	3.66107800
24	cilium or flagellum-dependent cell motility (GO:0001539)	3.65136787
25	motile cilium assembly (GO:0044458)	3.60426105
26	regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	3.54534991
27	muscle hypertrophy (GO:0014896)	3.54207852
28	actomyosin structure organization (GO:0031032)	3.47910901
29	negative regulation of gluconeogenesis (GO:0045721)	3.40508978
30	myotube cell development (GO:0014904)	3.38645034
31	regulation of sequestering of triglyceride (GO:0010889)	3.37105200
32	striated muscle contraction (GO:0006941)	3.33125352
33	positive regulation of calcium ion transmembrane transporter activity (GO:1901021)	3.31361520
34	cardiac muscle hypertrophy (GO:0003300)	3.28524315
35	striated muscle hypertrophy (GO:0014897)	3.27342280
36	regulation of energy homeostasis (GO:2000505)	3.27178282
37	skeletal muscle contraction (GO:0003009)	3.27112464
38	actin filament-based movement (GO:0030048)	3.26132625
39	response to epinephrine (GO:0071871)	3.24342191
40	cardiac muscle contraction (GO:0060048)	3.18439229
41	fatty acid homeostasis (GO:0055089)	3.15598939
42	regulation of actin filament-based movement (GO:1903115)	3.09276704
43	carnitine transmembrane transport (GO:1902603)	3.02800825
44	positive regulation of phosphoprotein phosphatase activity (GO:0032516)	2.94268623
45	creatine metabolic process (GO:0006600)	2.92678347
46	muscle contraction (GO:0006936)	2.91310639
47	negative regulation of cytosolic calcium ion concentration (GO:0051481)	2.91180081
48	establishment of protein localization to Golgi (GO:0072600)	2.89465907
49	striated muscle atrophy (GO:0014891)	2.86711819
50	cellular response to epinephrine stimulus (GO:0071872)	2.86522382
51	striated muscle adaptation (GO:0014888)	2.84174306
52	membrane depolarization during cardiac muscle cell action potential (GO:0086012)	2.84135425
53	ethanol oxidation (GO:0006069)	2.82832272
54	negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)	2.82346415
55	carnitine transport (GO:0015879)	2.81192206
56	amino-acid betaine transport (GO:0015838)	2.81192206
57	regulation of glycolytic process (GO:0006110)	2.78378326
58	muscle system process (GO:0003012)	2.77774935
59	regulation of striated muscle contraction (GO:0006942)	2.75913182
60	cellular ketone body metabolic process (GO:0046950)	2.73744461
61	protein targeting to Golgi (GO:0000042)	2.69490228
62	skeletal muscle tissue development (GO:0007519)	2.68868233
63	regulation of sarcomere organization (GO:0060297)	2.68865944
64	detection of calcium ion (GO:0005513)	2.64750565
65	regulation of muscle adaptation (GO:0043502)	2.63040299
66	muscle fiber development (GO:0048747)	2.62143990
67	regulation of calcium ion transmembrane transporter activity (GO:1901019)	2.61617246
68	regulation of calcium ion transmembrane transport (GO:1903169)	2.61617246
69	positive regulation of glycogen biosynthetic process (GO:0045725)	2.60578470
70	nucleus localization (GO:0051647)	2.60518405
71	positive regulation of cation channel activity (GO:2001259)	2.59606252
72	axoneme assembly (GO:0035082)	2.59048757
73	macroautophagy (GO:0016236)	2.57159950
74	regulation of cardiac muscle hypertrophy (GO:0010611)	2.56581629
75	retrograde transport, vesicle recycling within Golgi (GO:0000301)	2.56321259
76	positive regulation of muscle hypertrophy (GO:0014742)	2.52463026
77	positive regulation of cardiac muscle hypertrophy (GO:0010613)	2.52463026
78	skeletal muscle fiber development (GO:0048741)	2.50802656
79	regulation of muscle hypertrophy (GO:0014743)	2.50656813
80	glycogen catabolic process (GO:0005980)	2.50535444
81	relaxation of muscle (GO:0090075)	2.48960159
82	quaternary ammonium group transport (GO:0015697)	2.48489486
83	regulation of membrane repolarization (GO:0060306)	2.48129100
84	growth hormone receptor signaling pathway (GO:0060396)	2.47609295
85	response to caffeine (GO:0031000)	2.47565085
86	relaxation of cardiac muscle (GO:0055119)	2.45630877
87	ketone body metabolic process (GO:1902224)	2.44197264
88	cGMP-mediated signaling (GO:0019934)	2.43072889
89	negative regulation of complement activation (GO:0045916)	2.42562219
90	muscle atrophy (GO:0014889)	2.40586087
91	muscle tissue morphogenesis (GO:0060415)	2.36085948
92	insulin-like growth factor receptor signaling pathway (GO:0048009)	2.35995611
93	glucan catabolic process (GO:0009251)	2.35943203
94	negative regulation of calcium ion transmembrane transporter activity (GO:1901020)	2.35555449
95	negative regulation of calcium ion transmembrane transport (GO:1903170)	2.35555449
96	regulation of cAMP-dependent protein kinase activity (GO:2000479)	2.35355753
97	transcytosis (GO:0045056)	2.33710365
98	positive regulation of phosphatase activity (GO:0010922)	2.32532395
99	cardiac muscle tissue morphogenesis (GO:0055008)	2.32495855
100	skeletal muscle tissue regeneration (GO:0043403)	2.31686287

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	GBX2_23144817_ChIP-Seq_PC3_Human	2.58845101
2	CDX2_19796622_ChIP-Seq_MESCs_Mouse	2.49459810
3	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	2.42460470
4	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	2.11959853
5	IGF1R_20145208_ChIP-Seq_DFB_Human	2.07896748
6	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	2.06991002
7	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.04727565
8	SMAD_19615063_ChIP-ChIP_OVARY_Human	1.96959171
9	* POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.94504884
10	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.85833358
11	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.85733945
12	EP300_21415370_ChIP-Seq_HL-1_Mouse	1.85175076
13	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.82234255
14	ESR1_22446102_ChIP-Seq_UTERUS_Mouse	1.81482810
15	VDR_22108803_ChIP-Seq_LS180_Human	1.81039448
16	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.79593127
17	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.71692326
18	EZH2_22144423_ChIP-Seq_EOC_Human	1.68365855
19	BCAT_22108803_ChIP-Seq_LS180_Human	1.66223791
20	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.65538036
21	* SMAD4_21799915_ChIP-Seq_A2780_Human	1.65516427
22	ESR1_20079471_ChIP-ChIP_T-47D_Human	1.64221532
23	ZNF217_24962896_ChIP-Seq_MCF-7_Human	1.57800898
24	AR_21572438_ChIP-Seq_LNCaP_Human	1.56108907
25	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.55044840
26	TAF15_26573619_Chip-Seq_HEK293_Human	1.54526871
27	BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human	1.52689029
28	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.51704612
29	DROSHA_22980978_ChIP-Seq_HELA_Human	1.51610208
30	STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse	1.50285942
31	NR1I2_20693526_ChIP-Seq_LIVER_Mouse	1.49242152
32	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.47821094
33	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.47251272
34	CJUN_26792858_Chip-Seq_BT549_Human	1.46611417
35	STAT3_23295773_ChIP-Seq_U87_Human	1.46371871
36	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.41095572
37	ER_23166858_ChIP-Seq_MCF-7_Human	1.35893675
38	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.35824924
39	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.35488700
40	TCF4_23295773_ChIP-Seq_U87_Human	1.35054654
41	NRF2_20460467_ChIP-Seq_MEFs_Mouse	1.34750922
42	NFE2L2_20460467_ChIP-Seq_MEFs_Mouse	1.34750922
43	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.33929274
44	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.31692011
45	AHR_22903824_ChIP-Seq_MCF-7_Human	1.31137608
46	LXR_22158963_ChIP-Seq_LIVER_Mouse	1.29982536
47	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.29058029
48	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.28222884
49	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.27763487
50	AR_25329375_ChIP-Seq_VCAP_Human	1.27664775
51	ARNT_22903824_ChIP-Seq_MCF-7_Human	1.26992352
52	ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.25695080
53	FOXM1_26456572_ChIP-Seq_MCF-7_Human	1.25197694
54	CBP_20019798_ChIP-Seq_JUKART_Human	1.24576073
55	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.24576073
56	TBX20_22328084_ChIP-Seq_HEART_Mouse	1.21193749
57	TBX20_22080862_ChIP-Seq_HEART_Mouse	1.21193749
58	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.20371596
59	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.20002411
60	CTNNB1_20460455_ChIP-Seq_HCT116_Human	1.18493122
61	P300_19829295_ChIP-Seq_ESCs_Human	1.16675779
62	FOXO1_23066095_ChIP-Seq_LIVER_Mouse	1.15948749
63	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.14918640
64	CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse	1.14657093
65	SOX2_21211035_ChIP-Seq_LN229_Gbm	1.14310936
66	TP53_16413492_ChIP-PET_HCT116_Human	1.13033836
67	* CDX2_22108803_ChIP-Seq_LS180_Human	1.11272818
68	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.07721279
69	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.07653643
70	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.07562582
71	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	1.07524286
72	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.07423836
73	NR3C1_23031785_ChIP-Seq_PC12_Mouse	1.07334993
74	FUS_26573619_Chip-Seq_HEK293_Human	1.06774244
75	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.05710598
76	TBL1_22424771_ChIP-Seq_293T_Human	1.05369443
77	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.02751397
78	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.02682047
79	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.02446086
80	KDM2B_26808549_Chip-Seq_REH_Human	1.02187888
81	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.01998443
82	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.01928657
83	OCT4_21477851_ChIP-Seq_ESCs_Mouse	1.01738270
84	* GATA2_21666600_ChIP-Seq_HMVEC_Human	1.00945056
85	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	0.99943916
86	TCF4_18268006_ChIP-ChIP_LS174T_Human	0.98915246
87	PCGF2_27294783_Chip-Seq_NPCs_Mouse	0.98514824
88	TCF4_22108803_ChIP-Seq_LS180_Human	0.98255094
89	PPARG_20176806_ChIP-Seq_3T3-L1_Mouse	0.97919767
90	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	0.97533268
91	MTF2_20144788_ChIP-Seq_MESCs_Mouse	0.97376569
92	P53_22387025_ChIP-Seq_ESCs_Mouse	0.95722247
93	GATA1_22025678_ChIP-Seq_K562_Human	0.95558926
94	E2F1_18555785_Chip-Seq_ESCs_Mouse	0.95356587
95	* AR_21915096_ChIP-Seq_LNCaP-1F5_Human	0.94852569
96	RXR_22108803_ChIP-Seq_LS180_Human	0.93399323
97	TP63_23658742_ChIP-Seq_EP156T_Human	0.93029463
98	TP53_18474530_ChIP-ChIP_U2OS_Human	0.92571543
99	NANOG_19829295_ChIP-Seq_ESCs_Human	0.92316825
100	SOX2_19829295_ChIP-Seq_ESCs_Human	0.92316825

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0000751_myopathy	4.77133450
2	MP0003646_muscle_fatigue	4.39002845
3	MP0005275_abnormal_skin_tensile	3.60001675
4	MP0000749_muscle_degeneration	3.55331046
5	MP0004145_abnormal_muscle_electrophysio	3.33669510
6	MP0005670_abnormal_white_adipose	3.30110338
7	MP0004036_abnormal_muscle_relaxation	3.15062188
8	MP0008438_abnormal_cutaneous_collagen	3.12519607
9	MP0004084_abnormal_cardiac_muscle	2.95915606
10	MP0005503_abnormal_tendon_morphology	2.95727196
11	MP0004130_abnormal_muscle_cell	2.92074571
12	MP0000013_abnormal_adipose_tissue	2.90700465
13	MP0001661_extended_life_span	2.74206260
14	MP0004215_abnormal_myocardial_fiber	2.60481927
15	MP0002837_dystrophic_cardiac_calcinosis	2.58561119
16	MP0002108_abnormal_muscle_morphology	2.57457445
17	MP0004087_abnormal_muscle_fiber	2.27013979
18	MP0005620_abnormal_muscle_contractility	2.21175230
19	MP0009780_abnormal_chondrocyte_physiolo	2.16467441
20	MP0002106_abnormal_muscle_physiology	2.10192601
21	MP0000747_muscle_weakness	2.08688798
22	MP0005369_muscle_phenotype	2.07754840
23	MP0003950_abnormal_plasma_membrane	1.99503245
24	MP0006138_congestive_heart_failure	1.99473779
25	MP0002269_muscular_atrophy	1.94472527
26	MP0000759_abnormal_skeletal_muscle	1.93399485
27	MP0005330_cardiomyopathy	1.93336349
28	MP0010368_abnormal_lymphatic_system	1.86358892
29	MP0002971_abnormal_brown_adipose	1.81015602
30	MP0002332_abnormal_exercise_endurance	1.74233661
31	MP0000750_abnormal_muscle_regeneration	1.67350805
32	MP0002972_abnormal_cardiac_muscle	1.66949388
33	MP0005666_abnormal_adipose_tissue	1.64034896
34	MP0005375_adipose_tissue_phenotype	1.56499487
35	MP0003045_fibrosis	1.55360680
36	MP0004510_myositis	1.54913874
37	MP0002876_abnormal_thyroid_physiology	1.51504513
38	MP0000003_abnormal_adipose_tissue	1.47762472
39	MP0004484_altered_response_of	1.46288874
40	MP0005266_abnormal_metabolism	1.31969036
41	MP0002638_abnormal_pupillary_reflex	1.29866889
42	MP0005385_cardiovascular_system_phenoty	1.24603271
43	MP0001544_abnormal_cardiovascular_syste	1.24603271
44	MP0003879_abnormal_hair_cell	1.23876882
45	MP0003137_abnormal_impulse_conducting	1.22999984
46	MP0010329_abnormal_lipoprotein_level	1.22229248
47	MP0001501_abnormal_sleep_pattern	1.21242672
48	MP0005535_abnormal_body_temperature	1.18769447
49	MP0009115_abnormal_fat_cell	1.17818552
50	MP0004085_abnormal_heartbeat	1.11226305
51	MP0000733_abnormal_muscle_development	1.06600155
52	MP0002127_abnormal_cardiovascular_syste	1.05582824
53	MP0002078_abnormal_glucose_homeostasis	1.01951702
54	MP0009384_cardiac_valve_regurgitation	1.00739503
55	MP0000230_abnormal_systemic_arterial	1.00118930
56	MP0006036_abnormal_mitochondrial_physio	0.99862014
57	MP0002118_abnormal_lipid_homeostasis	0.99450018
58	MP0008775_abnormal_heart_ventricle	0.98916061
59	MP0005171_absent_coat_pigmentation	0.98143514
60	MP0001879_abnormal_lymphatic_vessel	0.97925148
61	MP0003868_abnormal_feces_composition	0.96984142
62	MP0003195_calcinosis	0.96078075
63	MP0010630_abnormal_cardiac_muscle	0.96066414
64	MP0001958_emphysema	0.93256268
65	MP0002295_abnormal_pulmonary_circulatio	0.90930701
66	MP0005167_abnormal_blood-brain_barrier	0.89472147
67	MP0004043_abnormal_pH_regulation	0.89463033
68	MP0000372_irregular_coat_pigmentation	0.88308856
69	MP0002138_abnormal_hepatobiliary_system	0.87898338
70	MP0002909_abnormal_adrenal_gland	0.87516864
71	MP0001984_abnormal_olfaction	0.86520395
72	MP0002933_joint_inflammation	0.85493622
73	MP0003828_pulmonary_edema	0.85033006
74	MP0008057_abnormal_DNA_replication	0.84991671
75	MP0005334_abnormal_fat_pad	0.84198467
76	MP0001299_abnormal_eye_distance/	0.83938441
77	MP0003279_aneurysm	0.83175767
78	MP0002168_other_aberrant_phenotype	0.80963246
79	MP0009046_muscle_twitch	0.77147367
80	MP0005448_abnormal_energy_balance	0.76745126
81	MP0005595_abnormal_vascular_smooth	0.76175874
82	MP0004272_abnormal_basement_membrane	0.75808208
83	MP0005332_abnormal_amino_acid	0.71227949
84	MP0005451_abnormal_body_composition	0.70662389
85	MP0004270_analgesia	0.69370734
86	MP0003252_abnormal_bile_duct	0.68217577
87	MP0010386_abnormal_urinary_bladder	0.66753874
88	MP0005645_abnormal_hypothalamus_physiol	0.66637214
89	MP0004233_abnormal_muscle_weight	0.66067539
90	MP0009643_abnormal_urine_homeostasis	0.65152109
91	MP0005085_abnormal_gallbladder_physiolo	0.65014530
92	MP0002693_abnormal_pancreas_physiology	0.63087355
93	MP0003959_abnormal_lean_body	0.63036890
94	MP0002128_abnormal_blood_circulation	0.62004663
95	MP0002970_abnormal_white_adipose	0.61800392
96	MP0005452_abnormal_adipose_tissue	0.59127034
97	MP0003690_abnormal_glial_cell	0.57978617
98	MP0005376_homeostasis/metabolism_phenot	0.56694079
99	MP0003953_abnormal_hormone_level	0.55152841
100	MP0005253_abnormal_eye_physiology	0.54109429

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Nemaline bodies (HP:0003798)	7.09179175
2	Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)	6.70112213
3	Muscle fiber inclusion bodies (HP:0100299)	6.68726574
4	Type 1 muscle fiber predominance (HP:0003803)	5.84424105
5	Exercise-induced myalgia (HP:0003738)	5.40374980
6	Muscle fiber splitting (HP:0003555)	4.52581363
7	Abnormality of the calf musculature (HP:0001430)	4.18570950
8	Muscle hypertrophy of the lower extremities (HP:0008968)	4.14241936
9	Calf muscle hypertrophy (HP:0008981)	4.12080531
10	Hyporeflexia of lower limbs (HP:0002600)	4.05222280
11	Bundle branch block (HP:0011710)	3.96320395
12	EMG: myopathic abnormalities (HP:0003458)	3.79795589
13	Sudden death (HP:0001699)	3.79481150
14	Neck muscle weakness (HP:0000467)	3.60233502
15	Distal arthrogryposis (HP:0005684)	3.58363315
16	Myoglobinuria (HP:0002913)	3.49188724
17	Increased connective tissue (HP:0009025)	3.42085116
18	Hyperkalemia (HP:0002153)	3.36437652
19	Difficulty running (HP:0009046)	3.35534788
20	Exercise-induced muscle cramps (HP:0003710)	3.32380234
21	Round ear (HP:0100830)	3.31355841
22	Absent/shortened dynein arms (HP:0200106)	3.28461432
23	Dynein arm defect of respiratory motile cilia (HP:0012255)	3.28461432
24	Myopathic facies (HP:0002058)	3.25001855
25	Insulin-resistant diabetes mellitus (HP:0000831)	3.09562023
26	Aortic aneurysm (HP:0004942)	3.04574254
27	Frequent falls (HP:0002359)	3.00534995
28	Increased variability in muscle fiber diameter (HP:0003557)	2.94582421
29	Asymmetric septal hypertrophy (HP:0001670)	2.77758701
30	Decreased circulating renin level (HP:0003351)	2.76065910
31	Abnormality of skeletal muscle fiber size (HP:0012084)	2.73740398
32	Hypoglycemic coma (HP:0001325)	2.73366279
33	Rimmed vacuoles (HP:0003805)	2.70838734
34	Rhabdomyolysis (HP:0003201)	2.68191282
35	Lipoatrophy (HP:0100578)	2.66988467
36	Atrial fibrillation (HP:0005110)	2.66239606
37	Ventricular tachycardia (HP:0004756)	2.65495172
38	Heart block (HP:0012722)	2.62103269
39	Muscular dystrophy (HP:0003560)	2.54372821
40	Hyperinsulinemic hypoglycemia (HP:0000825)	2.51285618
41	Hyperglycemia (HP:0003074)	2.48681975
42	Dilated cardiomyopathy (HP:0001644)	2.48324746
43	Abnormality of the left ventricular outflow tract (HP:0011103)	2.47934523
44	Subaortic stenosis (HP:0001682)	2.47934523
45	Abnormal atrioventricular conduction (HP:0005150)	2.45501317
46	Ketoacidosis (HP:0001993)	2.44633123
47	Syncope (HP:0001279)	2.43215255
48	Hypoglycemic seizures (HP:0002173)	2.42037428
49	Primary atrial arrhythmia (HP:0001692)	2.42009435
50	Distal lower limb muscle weakness (HP:0009053)	2.37999756
51	Hypoalphalipoproteinemia (HP:0003233)	2.36822424
52	Dysmetric saccades (HP:0000641)	2.35948790
53	Ulnar deviation of the wrist (HP:0003049)	2.34817670
54	Gowers sign (HP:0003391)	2.33725536
55	EMG: neuropathic changes (HP:0003445)	2.32867667
56	Wrist flexion contracture (HP:0001239)	2.29160448
57	Oligomenorrhea (HP:0000876)	2.25770881
58	Complement deficiency (HP:0004431)	2.25099396
59	Supraventricular tachycardia (HP:0004755)	2.24252684
60	Striae distensae (HP:0001065)	2.24231598
61	Myotonia (HP:0002486)	2.24124717
62	Large for gestational age (HP:0001520)	2.23441743
63	Generalized muscle weakness (HP:0003324)	2.20290821
64	Abnormality of the ischium (HP:0003174)	2.19117611
65	Malignant hyperthermia (HP:0002047)	2.18456906
66	Supraventricular arrhythmia (HP:0005115)	2.17465437
67	Hypoplastic ischia (HP:0003175)	2.16481218
68	Fetal akinesia sequence (HP:0001989)	2.15507512
69	Hyperlipoproteinemia (HP:0010980)	2.14122575
70	Areflexia of lower limbs (HP:0002522)	2.13382088
71	Prolonged QT interval (HP:0001657)	2.11445914
72	Ventricular arrhythmia (HP:0004308)	2.11195561
73	Proximal amyotrophy (HP:0007126)	2.07148734
74	Bell-shaped thorax (HP:0001591)	2.06939205
75	Fair hair (HP:0002286)	2.04654377
76	Bulbar palsy (HP:0001283)	2.03675369
77	Abnormality of potassium homeostasis (HP:0011042)	2.02188846
78	Abnormal ciliary motility (HP:0012262)	2.01287347
79	Mildly elevated creatine phosphokinase (HP:0008180)	1.97740939
80	Absent phalangeal crease (HP:0006109)	1.97060501
81	Blue irides (HP:0000635)	1.96667332
82	Atrioventricular block (HP:0001678)	1.95984853
83	Right ventricular cardiomyopathy (HP:0011663)	1.89519236
84	Centrally nucleated skeletal muscle fibers (HP:0003687)	1.86126950
85	Facial diplegia (HP:0001349)	1.85307248
86	Abnormality of the neuromuscular junction (HP:0003398)	1.84641448
87	Fatigable weakness (HP:0003473)	1.84641448
88	Pigmentary retinal degeneration (HP:0001146)	1.84148543
89	Left ventricular hypertrophy (HP:0001712)	1.83459074
90	Ketosis (HP:0001946)	1.82229673
91	Abnormal finger flexion creases (HP:0006143)	1.82124128
92	Hip contracture (HP:0003273)	1.80248900
93	Neoplasm of the heart (HP:0100544)	1.77434455
94	Abnormal EKG (HP:0003115)	1.76512587
95	Insulin resistance (HP:0000855)	1.76007097
96	Ventricular fibrillation (HP:0001663)	1.73666143
97	Hypokalemia (HP:0002900)	1.72459957
98	Mitral stenosis (HP:0001718)	1.70692714
99	Abnormality of the renal cortex (HP:0011035)	1.69364312
100	Abnormality of complement system (HP:0005339)	1.68652266

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	OBSCN	6.97281751
2	FRK	5.06471784
3	PHKG2	3.56406456
4	PHKG1	3.56406456
5	TTN	2.55101055
6	EPHA3	2.53039257
7	MYLK	2.39102151
8	MAP3K7	2.34125513
9	PINK1	2.15178102
10	TRPM7	2.01718460
11	PIK3CG	1.91756743
12	PRKAA2	1.87855578
13	MUSK	1.77050402
14	ACVR1B	1.76808021
15	MAPK7	1.54908360
16	NLK	1.52815378
17	MAPK12	1.45206925
18	AKT3	1.38516495
19	TIE1	1.36038783
20	FER	1.25955312
21	BLK	1.19350492
22	TGFBR2	1.15116924
23	DDR2	1.07552080
24	PTK2B	1.07364833
25	SGK2	1.07326285
26	DMPK	1.05507221
27	NEK9	1.05435590
28	PIK3CA	1.04760380
29	PRKAA1	1.04323679
30	BMPR1B	1.03213029
31	PAK3	1.02218539
32	DAPK2	1.02178610
33	MAP3K4	1.01471888
34	FGFR3	0.98906748
35	EPHB1	0.97323152
36	CAMK1	0.94381892
37	NTRK3	0.90764096
38	CAMK2D	0.90464407
39	CDC42BPA	0.89660999
40	MAPKAPK3	0.88028075
41	LATS1	0.84344052
42	LMTK2	0.83464441
43	PRKG1	0.82875753
44	MAP4K2	0.81307533
45	ERBB3	0.80122447
46	STK38L	0.77487639
47	MARK2	0.76679373
48	INSRR	0.73936333
49	CAMK2G	0.71228168
50	STK38	0.71022197
51	PDK2	0.70002857
52	IRAK1	0.67246986
53	PRKD1	0.66340435
54	CAMK4	0.62537307
55	MARK1	0.61734468
56	CAMK2A	0.61170071
57	CAMK2B	0.61085516
58	PKN1	0.60682315
59	MAPK4	0.59614557
60	STK24	0.59231736
61	JAK1	0.58444840
62	MAP3K6	0.58311397
63	SGK3	0.58041803
64	STK11	0.57890423
65	PRKCE	0.57784265
66	MAP2K6	0.57306649
67	MAP2K1	0.56128441
68	TGFBR1	0.55926997
69	WNK1	0.55228126
70	MAPK11	0.55153936
71	PRKACA	0.54059233
72	SGK494	0.52525619
73	SGK223	0.52525619
74	STK3	0.52372309
75	OXSR1	0.52293109
76	LIMK1	0.51935176
77	HIPK2	0.51464261
78	MAPK15	0.50805692
79	GRK5	0.49820777
80	GRK1	0.48746714
81	MAP3K2	0.47309778
82	PDGFRB	0.47029258
83	ROCK1	0.46179836
84	FGFR2	0.45916809
85	PRKACG	0.44988540
86	EEF2K	0.44047888
87	RPS6KA3	0.43118382
88	ADRBK1	0.42580505
89	MAP2K4	0.40719055
90	PRKACB	0.40479868
91	PDPK1	0.40075034
92	KIT	0.39474991
93	PRKG2	0.39377483
94	MET	0.36866461
95	MST1R	0.35702466
96	SGK1	0.34222297
97	EPHA4	0.33414733
98	PDGFRA	0.32631766
99	ITK	0.30665285
100	PDK1	0.30040694

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	2.62403027
2	Dilated cardiomyopathy_Homo sapiens_hsa05414	2.53928801
3	Circadian rhythm_Homo sapiens_hsa04710	2.34974741
4	Fatty acid degradation_Homo sapiens_hsa00071	2.21652337
5	* ABC transporters_Homo sapiens_hsa02010	2.04485076
6	Tryptophan metabolism_Homo sapiens_hsa00380	2.00282376
7	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.98023490
8	Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923	1.94777949
9	Butanoate metabolism_Homo sapiens_hsa00650	1.94252513
10	Histidine metabolism_Homo sapiens_hsa00340	1.82609466
11	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	1.71942666
12	Vascular smooth muscle contraction_Homo sapiens_hsa04270	1.67476348
13	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.66362106
14	Insulin secretion_Homo sapiens_hsa04911	1.64995860
15	Renin secretion_Homo sapiens_hsa04924	1.62758039
16	PPAR signaling pathway_Homo sapiens_hsa03320	1.62294580
17	Ovarian steroidogenesis_Homo sapiens_hsa04913	1.48913084
18	Insulin resistance_Homo sapiens_hsa04931	1.43238661
19	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.40148063
20	Pancreatic secretion_Homo sapiens_hsa04972	1.39673633
21	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	1.34839335
22	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.34759142
23	Linoleic acid metabolism_Homo sapiens_hsa00591	1.32829556
24	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	1.31811831
25	Retinol metabolism_Homo sapiens_hsa00830	1.30565403
26	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.30280880
27	beta-Alanine metabolism_Homo sapiens_hsa00410	1.27605166
28	Dorso-ventral axis formation_Homo sapiens_hsa04320	1.27282612
29	Phenylalanine metabolism_Homo sapiens_hsa00360	1.25288408
30	Complement and coagulation cascades_Homo sapiens_hsa04610	1.24332730
31	Starch and sucrose metabolism_Homo sapiens_hsa00500	1.20964643
32	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.19351315
33	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	1.18854223
34	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	1.18186766
35	Glucagon signaling pathway_Homo sapiens_hsa04922	1.17827073
36	Calcium signaling pathway_Homo sapiens_hsa04020	1.17276032
37	Adipocytokine signaling pathway_Homo sapiens_hsa04920	1.16993749
38	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	1.14375005
39	Circadian entrainment_Homo sapiens_hsa04713	1.12920654
40	Glycerolipid metabolism_Homo sapiens_hsa00561	1.12237522
41	Chemical carcinogenesis_Homo sapiens_hsa05204	1.11495653
42	Cardiac muscle contraction_Homo sapiens_hsa04260	1.11166079
43	ECM-receptor interaction_Homo sapiens_hsa04512	1.10693207
44	Propanoate metabolism_Homo sapiens_hsa00640	1.10689836
45	Bile secretion_Homo sapiens_hsa04976	1.10597208
46	AMPK signaling pathway_Homo sapiens_hsa04152	1.08201587
47	Oxytocin signaling pathway_Homo sapiens_hsa04921	1.06534215
48	Insulin signaling pathway_Homo sapiens_hsa04910	1.06298665
49	Salivary secretion_Homo sapiens_hsa04970	1.05819155
50	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.04534968
51	Protein digestion and absorption_Homo sapiens_hsa04974	1.02598132
52	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	1.01360522
53	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.96382074
54	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.95950579
55	Tyrosine metabolism_Homo sapiens_hsa00350	0.94841513
56	Type II diabetes mellitus_Homo sapiens_hsa04930	0.90622356
57	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.88593666
58	Fatty acid metabolism_Homo sapiens_hsa01212	0.86627182
59	Sulfur metabolism_Homo sapiens_hsa00920	0.83731915
60	Longevity regulating pathway - multiple species_Homo sapiens_hsa04213	0.80977689
61	Carbohydrate digestion and absorption_Homo sapiens_hsa04973	0.80955331
62	Focal adhesion_Homo sapiens_hsa04510	0.80929317
63	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.80437955
64	Fat digestion and absorption_Homo sapiens_hsa04975	0.80335185
65	Long-term depression_Homo sapiens_hsa04730	0.77740000
66	Gastric acid secretion_Homo sapiens_hsa04971	0.77383497
67	Arginine biosynthesis_Homo sapiens_hsa00220	0.71648252
68	cAMP signaling pathway_Homo sapiens_hsa04024	0.70142513
69	Longevity regulating pathway - mammal_Homo sapiens_hsa04211	0.69967127
70	Regulation of autophagy_Homo sapiens_hsa04140	0.69032157
71	Caffeine metabolism_Homo sapiens_hsa00232	0.68513053
72	Lysine degradation_Homo sapiens_hsa00310	0.68074343
73	mTOR signaling pathway_Homo sapiens_hsa04150	0.65335687
74	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	0.65118016
75	Morphine addiction_Homo sapiens_hsa05032	0.64193988
76	Mineral absorption_Homo sapiens_hsa04978	0.62011777
77	Platelet activation_Homo sapiens_hsa04611	0.61954075
78	Nitrogen metabolism_Homo sapiens_hsa00910	0.61770660
79	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.60543438
80	GABAergic synapse_Homo sapiens_hsa04727	0.60146878
81	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.59932561
82	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.58774838
83	Renin-angiotensin system_Homo sapiens_hsa04614	0.57248979
84	Serotonergic synapse_Homo sapiens_hsa04726	0.57215846
85	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.54893585
86	Ether lipid metabolism_Homo sapiens_hsa00565	0.54310072
87	Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750	0.53786069
88	Glutamatergic synapse_Homo sapiens_hsa04724	0.53499208
89	Arginine and proline metabolism_Homo sapiens_hsa00330	0.52323168
90	FoxO signaling pathway_Homo sapiens_hsa04068	0.51674808
91	Glycosaminoglycan degradation_Homo sapiens_hsa00531	0.51377969
92	Tight junction_Homo sapiens_hsa04530	0.51152713
93	GnRH signaling pathway_Homo sapiens_hsa04912	0.50317734
94	Taste transduction_Homo sapiens_hsa04742	0.49694725
95	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	0.49120447
96	Amphetamine addiction_Homo sapiens_hsa05031	0.48511799
97	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.48147179
98	Peroxisome_Homo sapiens_hsa04146	0.47498711
99	Pyruvate metabolism_Homo sapiens_hsa00620	0.47431339
100	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	0.36473311

ABCA10

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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