ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	urea cycle (GO:0000050)	5.36982853
2	positive regulation of p38MAPK cascade (GO:1900745)	5.16528007
3	cytidine deamination (GO:0009972)	4.84326711
4	cytidine metabolic process (GO:0046087)	4.84326711
5	cytidine catabolic process (GO:0006216)	4.84326711
6	urea metabolic process (GO:0019627)	4.83401166
7	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO	4.81827501
8	dendritic spine morphogenesis (GO:0060997)	4.61062278
9	regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)	4.60328869
10	negative regulation of actin filament bundle assembly (GO:0032232)	4.58112146
11	regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091	4.46819004
12	positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)	4.43201637
13	sarcomere organization (GO:0045214)	4.42980063
14	cell migration involved in gastrulation (GO:0042074)	4.34628351
15	nitrogen cycle metabolic process (GO:0071941)	4.12174566
16	regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	4.10136734
17	pyrimidine ribonucleoside catabolic process (GO:0046133)	4.08988575
18	actin-myosin filament sliding (GO:0033275)	3.98804301
19	muscle filament sliding (GO:0030049)	3.98804301
20	righting reflex (GO:0060013)	3.96268984
21	cell communication by electrical coupling involved in cardiac conduction (GO:0086064)	3.92547846
22	actin-mediated cell contraction (GO:0070252)	3.90732070
23	tongue development (GO:0043586)	3.87131882
24	regulation of p38MAPK cascade (GO:1900744)	3.85689031
25	cardiac muscle hypertrophy (GO:0003300)	3.85143784
26	response to epinephrine (GO:0071871)	3.84162098
27	striated muscle hypertrophy (GO:0014897)	3.80821644
28	somite rostral/caudal axis specification (GO:0032525)	3.72662979
29	regulation of skeletal muscle contraction (GO:0014819)	3.68209214
30	cardiac muscle tissue morphogenesis (GO:0055008)	3.68031900
31	retina vasculature morphogenesis in camera-type eye (GO:0061299)	3.65715810
32	cardiac muscle cell development (GO:0055013)	3.60493258
33	ventricular cardiac muscle tissue morphogenesis (GO:0055010)	3.57271643
34	organ growth (GO:0035265)	3.56992235
35	cardiac cell development (GO:0055006)	3.47063860
36	muscle tissue morphogenesis (GO:0060415)	3.45036291
37	chemosensory behavior (GO:0007635)	3.43416882
38	dendritic spine organization (GO:0097061)	3.41274476
39	galactose metabolic process (GO:0006012)	3.37091170
40	lymphangiogenesis (GO:0001946)	3.34416378
41	cardiac muscle contraction (GO:0060048)	3.32571899
42	lateral sprouting from an epithelium (GO:0060601)	3.32355277
43	carnitine shuttle (GO:0006853)	3.30192961
44	regulation of membrane repolarization (GO:0060306)	3.30110502
45	cardiac myofibril assembly (GO:0055003)	3.29844395
46	prostate gland growth (GO:0060736)	3.28362098
47	cell communication by electrical coupling (GO:0010644)	3.26491819
48	muscle hypertrophy (GO:0014896)	3.25262920
49	ventricular cardiac muscle cell development (GO:0055015)	3.23219746
50	endocrine hormone secretion (GO:0060986)	3.21958370
51	myelination in peripheral nervous system (GO:0022011)	3.21827778
52	peripheral nervous system axon ensheathment (GO:0032292)	3.21827778
53	relaxation of cardiac muscle (GO:0055119)	3.19407645
54	actomyosin structure organization (GO:0031032)	3.15150503
55	detection of calcium ion (GO:0005513)	3.14503973
56	myofibril assembly (GO:0030239)	3.12572423
57	hair cell differentiation (GO:0035315)	3.11532819
58	cell migration involved in heart development (GO:0060973)	3.09700839
59	regulation of actin filament-based movement (GO:1903115)	3.05794287
60	membrane depolarization during cardiac muscle cell action potential (GO:0086012)	3.05178045
61	response to stimulus involved in regulation of muscle adaptation (GO:0014874)	3.01976980
62	embryonic heart tube development (GO:0035050)	3.00739614
63	positive regulation of vascular permeability (GO:0043117)	3.00593762
64	positive regulation of calcium ion transmembrane transporter activity (GO:1901021)	3.00526974
65	cGMP-mediated signaling (GO:0019934)	2.95058436
66	arginine metabolic process (GO:0006525)	2.93989528
67	regulation of cytokine production involved in inflammatory response (GO:1900015)	2.93500935
68	response to inactivity (GO:0014854)	2.93047625
69	sarcoplasmic reticulum calcium ion transport (GO:0070296)	2.92869466
70	DNA deamination (GO:0045006)	2.91984340
71	actin filament-based movement (GO:0030048)	2.91767850
72	otic vesicle formation (GO:0030916)	2.88382794
73	negative regulation of vascular permeability (GO:0043116)	2.86823538
74	regulation of striated muscle contraction (GO:0006942)	2.86378531
75	fibril organization (GO:0097435)	2.86311669
76	cardiac muscle cell action potential (GO:0086001)	2.85177710
77	regulation of heart rate (GO:0002027)	2.83799186
78	positive regulation of heart rate (GO:0010460)	2.83462013
79	regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	2.82318247
80	ventricular cardiac muscle cell action potential (GO:0086005)	2.80961515
81	cellular response to epinephrine stimulus (GO:0071872)	2.80442571
82	extracellular fibril organization (GO:0043206)	2.80030542
83	muscle hypertrophy in response to stress (GO:0003299)	2.79950908
84	cardiac muscle adaptation (GO:0014887)	2.79950908
85	cardiac muscle hypertrophy in response to stress (GO:0014898)	2.79950908
86	protein polyglutamylation (GO:0018095)	2.78909628
87	negative regulation of cytosolic calcium ion concentration (GO:0051481)	2.77401074
88	motile cilium assembly (GO:0044458)	2.75954399
89	heart contraction (GO:0060047)	2.75899496
90	heart process (GO:0003015)	2.75899496
91	negative regulation of organelle assembly (GO:1902116)	2.74146080
92	anterior/posterior axis specification (GO:0009948)	2.73883727
93	vocalization behavior (GO:0071625)	2.71691471
94	cardiac muscle tissue development (GO:0048738)	2.71385950
95	fatty acid transmembrane transport (GO:1902001)	2.71125899
96	regulation of relaxation of muscle (GO:1901077)	2.70712343
97	DNA double-strand break processing (GO:0000729)	2.69881759
98	positive regulation of fatty acid oxidation (GO:0046321)	2.69770456
99	extracellular matrix assembly (GO:0085029)	2.68646256
100	mesonephros development (GO:0001823)	2.67849719

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	EZH2_22144423_ChIP-Seq_EOC_Human	4.66538219
2	GBX2_23144817_ChIP-Seq_PC3_Human	3.37207818
3	CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human	3.05227525
4	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	2.80278209
5	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	2.74588172
6	CDX2_19796622_ChIP-Seq_MESCs_Mouse	2.71427013
7	SMAD_19615063_ChIP-ChIP_OVARY_Human	2.50656693
8	EED_16625203_ChIP-ChIP_MESCs_Mouse	2.46436100
9	EP300_21415370_ChIP-Seq_HL-1_Mouse	2.39108838
10	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	2.37989436
11	STAT6_21828071_ChIP-Seq_BEAS2B_Human	2.29910087
12	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	2.17993020
13	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	2.12590140
14	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.10121870
15	EZH2_27304074_Chip-Seq_ESCs_Mouse	2.08637996
16	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.00811497
17	RNF2_18974828_ChIP-Seq_MESCs_Mouse	1.99910982
18	EZH2_18974828_ChIP-Seq_MESCs_Mouse	1.99910982
19	BP1_19119308_ChIP-ChIP_Hs578T_Human	1.99619359
20	SUZ12_18692474_ChIP-Seq_MEFs_Mouse	1.97949616
21	SUZ12_18974828_ChIP-Seq_MESCs_Mouse	1.95003051
22	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	1.89194612
23	RBPJ_22232070_ChIP-Seq_NCS_Mouse	1.83662989
24	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	1.83118625
25	TRIM28_21343339_ChIP-Seq_HEK293_Human	1.80767092
26	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.80128015
27	PHC1_16625203_ChIP-ChIP_MESCs_Mouse	1.76611843
28	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.75320790
29	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.75229164
30	ESR1_22446102_ChIP-Seq_UTERUS_Mouse	1.72733529
31	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.71889747
32	VDR_22108803_ChIP-Seq_LS180_Human	1.70227735
33	SMAD4_21799915_ChIP-Seq_A2780_Human	1.68488263
34	JARID2_20064375_ChIP-Seq_MESCs_Mouse	1.68433039
35	RNF2_27304074_Chip-Seq_NSC_Mouse	1.67032785
36	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.66898656
37	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.64603419
38	P300_19829295_ChIP-Seq_ESCs_Human	1.60761885
39	NR3C1_23031785_ChIP-Seq_PC12_Mouse	1.59245327
40	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.58305347
41	CJUN_26792858_Chip-Seq_BT549_Human	1.55863198
42	BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human	1.54984535
43	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.52985837
44	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.52682043
45	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.50476556
46	CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse	1.50200129
47	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.44683840
48	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.43265071
49	RNF2_27304074_Chip-Seq_ESCs_Mouse	1.41320794
50	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.40517974
51	BCAT_22108803_ChIP-Seq_LS180_Human	1.36544455
52	MTF2_20144788_ChIP-Seq_MESCs_Mouse	1.36104764
53	TBX3_20139965_ChIP-Seq_ESCs_Mouse	1.35626584
54	EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse	1.35256660
55	TBX3_20139965_ChIP-Seq_MESCs_Mouse	1.35107256
56	TAF15_26573619_Chip-Seq_HEK293_Human	1.34676434
57	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.33571429
58	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.33509343
59	GATA1_26923725_Chip-Seq_HPCs_Mouse	1.32805406
60	SMAD3_21741376_ChIP-Seq_HESCs_Human	1.31877438
61	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.31727460
62	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.30108019
63	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.29990304
64	TP53_16413492_ChIP-PET_HCT116_Human	1.29530573
65	TRIM28_17542650_ChIP-ChIP_NTERA2_Human	1.28747697
66	LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.28449710
67	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.28224409
68	SUZ12_27294783_Chip-Seq_ESCs_Mouse	1.27494012
69	STAT3_23295773_ChIP-Seq_U87_Human	1.27111793
70	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.26372809
71	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.24992488
72	FUS_26573619_Chip-Seq_HEK293_Human	1.23093870
73	TP53_18474530_ChIP-ChIP_U2OS_Human	1.22008684
74	NRF2_20460467_ChIP-Seq_MEFs_Mouse	1.20996752
75	NFE2L2_20460467_ChIP-Seq_MEFs_Mouse	1.20996752
76	ZNF217_24962896_ChIP-Seq_MCF-7_Human	1.18523168
77	HTT_18923047_ChIP-ChIP_STHdh_Human	1.17953521
78	ISL1_27105846_Chip-Seq_CPCs_Mouse	1.16967894
79	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.16615600
80	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.15962948
81	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.13955774
82	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.13309262
83	KLF2_18264089_ChIP-ChIP_MESCs_Mouse	1.13133203
84	KLF5_18264089_ChIP-ChIP_MESCs_Mouse	1.13133203
85	KLF4_18264089_ChIP-ChIP_MESCs_Mouse	1.13133203
86	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.12602607
87	MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse	1.12411463
88	RING1B_27294783_Chip-Seq_ESCs_Mouse	1.08705998
89	ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.08246395
90	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.06224449
91	SMAD4_21741376_ChIP-Seq_HESCs_Human	1.06210903
92	TBX20_22080862_ChIP-Seq_HEART_Mouse	1.04916081
93	TBX20_22328084_ChIP-Seq_HEART_Mouse	1.04916081
94	SUZ12_20075857_ChIP-Seq_MESCs_Mouse	1.04901235
95	CBP_20019798_ChIP-Seq_JUKART_Human	1.04109245
96	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.04109245
97	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.03557768
98	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.03542990
99	NFIB_24661679_ChIP-Seq_LUNG_Mouse	1.02013610
100	SALL4_18804426_ChIP-ChIP_XEN_Mouse	1.00411681

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0000751_myopathy	5.11058998
2	MP0003646_muscle_fatigue	4.32763427
3	MP0002837_dystrophic_cardiac_calcinosis	3.56908202
4	MP0004084_abnormal_cardiac_muscle	3.54107382
5	MP0005503_abnormal_tendon_morphology	3.50186165
6	MP0001661_extended_life_span	3.49804067
7	MP0005409_darkened_coat_color	3.42189464
8	MP0004215_abnormal_myocardial_fiber	3.21678411
9	MP0004036_abnormal_muscle_relaxation	3.19018205
10	MP0004510_myositis	2.98200070
11	MP0005275_abnormal_skin_tensile	2.74285664
12	MP0010368_abnormal_lymphatic_system	2.50940907
13	MP0009384_cardiac_valve_regurgitation	2.47601644
14	MP0004272_abnormal_basement_membrane	2.45094671
15	MP0008004_abnormal_stomach_pH	2.41666766
16	MP0001879_abnormal_lymphatic_vessel	2.38285199
17	MP0003137_abnormal_impulse_conducting	2.38222183
18	MP0000749_muscle_degeneration	2.32242938
19	MP0002108_abnormal_muscle_morphology	2.07950864
20	MP0008438_abnormal_cutaneous_collagen	2.06764746
21	MP0006138_congestive_heart_failure	1.94097062
22	MP0002106_abnormal_muscle_physiology	1.92993523
23	MP0010030_abnormal_orbit_morphology	1.91081694
24	MP0005620_abnormal_muscle_contractility	1.91017645
25	MP0005369_muscle_phenotype	1.86551045
26	MP0004484_altered_response_of	1.86349181
27	MP0005330_cardiomyopathy	1.83106333
28	MP0004145_abnormal_muscle_electrophysio	1.82280333
29	MP0004147_increased_porphyrin_level	1.79239340
30	MP0000750_abnormal_muscle_regeneration	1.76791892
31	MP0002269_muscular_atrophy	1.73795571
32	MP0002638_abnormal_pupillary_reflex	1.64565759
33	MP0008775_abnormal_heart_ventricle	1.62453878
34	MP0002127_abnormal_cardiovascular_syste	1.59743531
35	MP0006072_abnormal_retinal_apoptosis	1.58897587
36	MP0004087_abnormal_muscle_fiber	1.58782419
37	MP0001986_abnormal_taste_sensitivity	1.57819573
38	MP0002972_abnormal_cardiac_muscle	1.55504621
39	MP0002822_catalepsy	1.43014004
40	MP0005595_abnormal_vascular_smooth	1.43013208
41	MP0005385_cardiovascular_system_phenoty	1.42324847
42	MP0001544_abnormal_cardiovascular_syste	1.42324847
43	MP0005165_increased_susceptibility_to	1.37738654
44	MP0006276_abnormal_autonomic_nervous	1.35141224
45	MP0003279_aneurysm	1.25239476
46	MP0002932_abnormal_joint_morphology	1.23313447
47	MP0000579_abnormal_nail_morphology	1.19850093
48	MP0005508_abnormal_skeleton_morphology	1.18228452
49	MP0000462_abnormal_digestive_system	1.17452270
50	MP0003122_maternal_imprinting	1.17223845
51	MP0000747_muscle_weakness	1.14469742
52	MP0002933_joint_inflammation	1.11362291
53	MP0000767_abnormal_smooth_muscle	1.11084488
54	MP0002277_abnormal_respiratory_mucosa	1.05653741
55	MP0000759_abnormal_skeletal_muscle	1.01751607
56	MP0003567_abnormal_fetal_cardiomyocyte	1.00371731
57	MP0002295_abnormal_pulmonary_circulatio	0.99166607
58	MP0008995_early_reproductive_senescence	0.98009027
59	MP0004085_abnormal_heartbeat	0.96635747
60	MP0000230_abnormal_systemic_arterial	0.94585280
61	MP0002909_abnormal_adrenal_gland	0.94202922
62	MP0004142_abnormal_muscle_tone	0.92885319
63	MP0000383_abnormal_hair_follicle	0.90915394
64	MP0001958_emphysema	0.88713057
65	MP0010386_abnormal_urinary_bladder	0.88426933
66	MP0000733_abnormal_muscle_development	0.87722834
67	MP0005171_absent_coat_pigmentation	0.83783221
68	MP0002128_abnormal_blood_circulation	0.83438738
69	MP0003045_fibrosis	0.81811697
70	MP0010630_abnormal_cardiac_muscle	0.81228237
71	MP0000566_synostosis	0.80021030
72	MP0000467_abnormal_esophagus_morphology	0.79122068
73	MP0009250_abnormal_appendicular_skeleto	0.76996182
74	MP0001542_abnormal_bone_strength	0.74877174
75	MP0001299_abnormal_eye_distance/	0.74735731
76	MP0002254_reproductive_system_inflammat	0.71250379
77	MP0001486_abnormal_startle_reflex	0.71059451
78	MP0003828_pulmonary_edema	0.70115855
79	MP0000163_abnormal_cartilage_morphology	0.69621832
80	MP0000569_abnormal_digit_pigmentation	0.69570705
81	MP0000026_abnormal_inner_ear	0.68964551
82	MP0000762_abnormal_tongue_morphology	0.68495829
83	MP0002102_abnormal_ear_morphology	0.66171526
84	MP0000049_abnormal_middle_ear	0.64983706
85	MP0005670_abnormal_white_adipose	0.62724338
86	MP0000639_abnormal_adrenal_gland	0.61921375
87	MP0003937_abnormal_limbs/digits/tail_de	0.59805531
88	MP0001286_abnormal_eye_development	0.59372312
89	MP0003283_abnormal_digestive_organ	0.58449517
90	MP0002332_abnormal_exercise_endurance	0.57404195
91	MP0002089_abnormal_postnatal_growth/wei	0.56960731
92	MP0005253_abnormal_eye_physiology	0.55817323
93	MP0000266_abnormal_heart_morphology	0.55619664
94	MP0005023_abnormal_wound_healing	0.55200302
95	MP0001963_abnormal_hearing_physiology	0.54482413
96	MP0000778_abnormal_nervous_system	0.54464765
97	MP0000537_abnormal_urethra_morphology	0.52883339
98	MP0009046_muscle_twitch	0.50105326
99	MP0003763_abnormal_thymus_physiology	0.49830499
100	MP0002282_abnormal_trachea_morphology	0.48657424

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Anomalous pulmonary venous return (HP:0010772)	5.50873574
2	Tongue fasciculations (HP:0001308)	5.17706302
3	Abnormality of the pulmonary veins (HP:0011718)	4.84899475
4	Muscle fibrillation (HP:0010546)	4.65918446
5	Bundle branch block (HP:0011710)	4.52809739
6	Rib fusion (HP:0000902)	4.44275491
7	Atrial fibrillation (HP:0005110)	4.13927072
8	Sudden death (HP:0001699)	4.05902738
9	Syncope (HP:0001279)	3.88647529
10	Aplastic anemia (HP:0001915)	3.78884679
11	Muscle fiber splitting (HP:0003555)	3.74359282
12	Aplasia of the musculature (HP:0100854)	3.72799959
13	Abnormality of the calf musculature (HP:0001430)	3.69688235
14	Primary atrial arrhythmia (HP:0001692)	3.57804055
15	Lipoatrophy (HP:0100578)	3.46681673
16	Supraventricular tachycardia (HP:0004755)	3.36669909
17	Confusion (HP:0001289)	3.34829900
18	Supraventricular arrhythmia (HP:0005115)	3.28439506
19	Long clavicles (HP:0000890)	3.27247707
20	Slow saccadic eye movements (HP:0000514)	3.24406189
21	Aortic aneurysm (HP:0004942)	3.22063980
22	Popliteal pterygium (HP:0009756)	3.19572503
23	Ventricular tachycardia (HP:0004756)	3.16378079
24	Joint hemorrhage (HP:0005261)	2.97339291
25	Right ventricular cardiomyopathy (HP:0011663)	2.93259140
26	Calf muscle hypertrophy (HP:0008981)	2.92785960
27	Adactyly (HP:0009776)	2.92417026
28	Respiratory distress (HP:0002098)	2.86247496
29	Hyporeflexia of lower limbs (HP:0002600)	2.80496154
30	Absent hand (HP:0004050)	2.67365094
31	Type 1 muscle fiber predominance (HP:0003803)	2.63811278
32	Muscle hypertrophy of the lower extremities (HP:0008968)	2.61497689
33	Ventricular arrhythmia (HP:0004308)	2.58144324
34	Aortic dissection (HP:0002647)	2.53664438
35	Fused cervical vertebrae (HP:0002949)	2.50492755
36	Prolonged QT interval (HP:0001657)	2.46269493
37	Symphalangism affecting the phalanges of the hand (HP:0009773)	2.44631395
38	Pigmentary retinal degeneration (HP:0001146)	2.42528180
39	Fetal akinesia sequence (HP:0001989)	2.40851710
40	Abnormality of the labia majora (HP:0012881)	2.35250295
41	Dilated cardiomyopathy (HP:0001644)	2.33997690
42	Pulmonary artery stenosis (HP:0004415)	2.29390585
43	Prolonged partial thromboplastin time (HP:0003645)	2.28940908
44	Neonatal respiratory distress (HP:0002643)	2.25723568
45	Sparse lateral eyebrow (HP:0005338)	2.23553598
46	Ventricular fibrillation (HP:0001663)	2.21615304
47	Hypoplasia of the iris (HP:0007676)	2.18985171
48	Difficulty running (HP:0009046)	2.18596570
49	Patent foramen ovale (HP:0001655)	2.18050769
50	Palpitations (HP:0001962)	2.14082971
51	Heart block (HP:0012722)	2.13947285
52	Mesangial abnormality (HP:0001966)	2.13604883
53	Cutaneous melanoma (HP:0012056)	2.12388117
54	EMG: myopathic abnormalities (HP:0003458)	2.11453057
55	Abnormality of incisor morphology (HP:0011063)	2.11196446
56	Abnormality of the intervertebral disk (HP:0005108)	2.08983359
57	Tubulointerstitial fibrosis (HP:0005576)	2.08018736
58	Abnormality of placental membranes (HP:0011409)	2.06595272
59	Amniotic constriction ring (HP:0009775)	2.06595272
60	Abnormal number of erythroid precursors (HP:0012131)	2.02184939
61	Preauricular pit (HP:0004467)	1.99985314
62	Periauricular skin pits (HP:0100277)	1.99985314
63	Anterior segment dysgenesis (HP:0007700)	1.99302509
64	Abnormal atrioventricular conduction (HP:0005150)	1.98925604
65	Aplasia/Hypoplasia involving the musculature (HP:0001460)	1.98344003
66	Impaired smooth pursuit (HP:0007772)	1.95847889
67	Muscular dystrophy (HP:0003560)	1.92096781
68	Abnormality of the middle phalanges of the toes (HP:0010183)	1.91539041
69	Absent toe (HP:0010760)	1.90320786
70	Abnormality of chloride homeostasis (HP:0011422)	1.89787917
71	Recurrent corneal erosions (HP:0000495)	1.88829013
72	Hydroureter (HP:0000072)	1.87473627
73	Abnormal EKG (HP:0003115)	1.87362440
74	Short tibia (HP:0005736)	1.85903825
75	Split foot (HP:0001839)	1.85641186
76	Stenosis of the external auditory canal (HP:0000402)	1.83345366
77	Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)	1.82826563
78	Aplasia/Hypoplasia of the hallux (HP:0008362)	1.82076575
79	Short hallux (HP:0010109)	1.80074315
80	Ankle contracture (HP:0006466)	1.78563794
81	Malignant hyperthermia (HP:0002047)	1.77758887
82	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.76669178
83	Aplasia involving bones of the extremities (HP:0009825)	1.75157993
84	Aplasia involving bones of the upper limbs (HP:0009823)	1.75157993
85	Aplasia of the phalanges of the hand (HP:0009802)	1.75157993
86	Muscle fiber inclusion bodies (HP:0100299)	1.74251502
87	Abnormal pupillary function (HP:0007686)	1.72037132
88	Molar tooth sign on MRI (HP:0002419)	1.70534944
89	Abnormality of midbrain morphology (HP:0002418)	1.70534944
90	Alacrima (HP:0000522)	1.70352890
91	Abnormality of the 2nd finger (HP:0004100)	1.70302328
92	Small epiphyses (HP:0010585)	1.69933082
93	Aplasia/Hypoplasia of the earlobes (HP:0009906)	1.66809868
94	Hyperammonemia (HP:0001987)	1.66455940
95	Proximal amyotrophy (HP:0007126)	1.65887901
96	Irregular vertebral endplates (HP:0003301)	1.65592024
97	Hypoplastic nipples (HP:0002557)	1.63652953
98	Left ventricular hypertrophy (HP:0001712)	1.63464003
99	Maternal diabetes (HP:0009800)	1.62293757
100	Neck muscle weakness (HP:0000467)	1.61952022

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	BLK	4.32267184
2	STK38L	4.15399208
3	MYLK	3.91972141
4	OBSCN	3.23691364
5	TIE1	2.94781022
6	MAP4K2	2.62391015
7	MELK	2.54038821
8	PBK	2.52952655
9	TTN	2.40779785
10	MST4	2.25688391
11	AKT3	2.01226838
12	KDR	1.81950950
13	PDGFRB	1.75908447
14	EPHA3	1.67656087
15	ZAP70	1.61016199
16	FGFR2	1.59213632
17	LATS1	1.57570989
18	STK24	1.48559449
19	NEK1	1.39282408
20	DMPK	1.39101217
21	BMPR1B	1.37050860
22	LIMK1	1.30235012
23	CSK	1.24912100
24	STK38	1.24576443
25	LATS2	1.24514490
26	PDK2	1.23146984
27	EIF2AK3	1.21895131
28	MARK1	1.18593637
29	WNK3	1.12167293
30	WEE1	1.10038113
31	BRSK2	1.07487186
32	MUSK	1.06326161
33	TNIK	1.03644464
34	NEK9	0.98311310
35	AKT2	0.98006424
36	MAP3K7	0.97737977
37	NTRK1	0.94921122
38	MAP3K12	0.94408453
39	FES	0.93183023
40	SCYL2	0.91283945
41	ADRBK1	0.88369548
42	STK4	0.87747448
43	ROCK1	0.82581706
44	ABL2	0.82220729
45	TESK1	0.81447921
46	PIK3CA	0.80095820
47	CAMK2D	0.79873873
48	PDGFRA	0.77963697
49	NLK	0.77827824
50	PRKD1	0.75539503
51	PINK1	0.74974191
52	PKN1	0.74612894
53	SYK	0.73107929
54	PTK2B	0.72641112
55	BRSK1	0.65796147
56	NUAK1	0.64241820
57	TRPM7	0.62701904
58	GRK1	0.60993593
59	MAP3K6	0.60892060
60	DYRK1B	0.59939640
61	PAK3	0.59933270
62	INSRR	0.59832200
63	MAPK12	0.58957774
64	ADRBK2	0.57663173
65	MAPK7	0.57188069
66	PRKAA2	0.56928883
67	CDK8	0.56555903
68	ROCK2	0.53081463
69	CAMK2A	0.52403022
70	INSR	0.52382229
71	MAP3K10	0.51670096
72	ATR	0.51365840
73	FGFR1	0.50507932
74	TGFBR2	0.48434778
75	CAMK4	0.48184087
76	TGFBR1	0.47639181
77	PRKCE	0.47288536
78	CAMK2B	0.47125750
79	ERBB4	0.45469001
80	SGK2	0.44647134
81	BMX	0.44344243
82	MAPK15	0.42774400
83	PRKACA	0.41860061
84	LMTK2	0.40957503
85	DAPK2	0.40940765
86	MET	0.39806299
87	STK11	0.38721455
88	SGK494	0.38401544
89	SGK223	0.38401544
90	TLK1	0.37070774
91	ERBB2	0.36243132
92	DDR2	0.35316305
93	EGFR	0.34273870
94	TAOK1	0.33270191
95	MAPK4	0.32427155
96	MAPK13	0.32099145
97	FRK	0.31692464
98	PRKAA1	0.30588161
99	FER	0.30415121
100	UHMK1	0.30323493

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	4.93405946
2	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	4.48571651
3	Dilated cardiomyopathy_Homo sapiens_hsa05414	4.24093699
4	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	4.10103653
5	Arginine biosynthesis_Homo sapiens_hsa00220	3.20849508
6	Cardiac muscle contraction_Homo sapiens_hsa04260	2.70420191
7	ECM-receptor interaction_Homo sapiens_hsa04512	2.52315612
8	Protein digestion and absorption_Homo sapiens_hsa04974	1.84344883
9	Adherens junction_Homo sapiens_hsa04520	1.75733395
10	Vascular smooth muscle contraction_Homo sapiens_hsa04270	1.75664505
11	Pancreatic secretion_Homo sapiens_hsa04972	1.67386354
12	Basal cell carcinoma_Homo sapiens_hsa05217	1.57217626
13	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	1.55502685
14	Focal adhesion_Homo sapiens_hsa04510	1.53759276
15	Olfactory transduction_Homo sapiens_hsa04740	1.49892589
16	TGF-beta signaling pathway_Homo sapiens_hsa04350	1.44790340
17	Sulfur metabolism_Homo sapiens_hsa00920	1.40471543
18	Renin secretion_Homo sapiens_hsa04924	1.32756613
19	Malaria_Homo sapiens_hsa05144	1.32752513
20	Fanconi anemia pathway_Homo sapiens_hsa03460	1.30338564
21	Calcium signaling pathway_Homo sapiens_hsa04020	1.22604127
22	Circadian rhythm_Homo sapiens_hsa04710	1.17374906
23	Linoleic acid metabolism_Homo sapiens_hsa00591	1.15753082
24	Propanoate metabolism_Homo sapiens_hsa00640	1.15113195
25	Hippo signaling pathway_Homo sapiens_hsa04390	1.13643772
26	Circadian entrainment_Homo sapiens_hsa04713	1.10629888
27	Fat digestion and absorption_Homo sapiens_hsa04975	1.09135462
28	cAMP signaling pathway_Homo sapiens_hsa04024	1.01426525
29	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	1.00966737
30	Viral myocarditis_Homo sapiens_hsa05416	0.98796008
31	Gastric acid secretion_Homo sapiens_hsa04971	0.98300476
32	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.98180318
33	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.94844256
34	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	0.94214798
35	Adipocytokine signaling pathway_Homo sapiens_hsa04920	0.93814708
36	Homologous recombination_Homo sapiens_hsa03440	0.91256271
37	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.90445072
38	Glutamatergic synapse_Homo sapiens_hsa04724	0.88194951
39	Fatty acid degradation_Homo sapiens_hsa00071	0.88185435
40	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.87755243
41	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.87291545
42	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.86954643
43	Tight junction_Homo sapiens_hsa04530	0.86573641
44	Regulation of autophagy_Homo sapiens_hsa04140	0.83619394
45	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.82905399
46	Phototransduction_Homo sapiens_hsa04744	0.81137903
47	PPAR signaling pathway_Homo sapiens_hsa03320	0.80107396
48	Complement and coagulation cascades_Homo sapiens_hsa04610	0.79824881
49	Amphetamine addiction_Homo sapiens_hsa05031	0.78935563
50	ABC transporters_Homo sapiens_hsa02010	0.78661142
51	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.78555415
52	Parkinsons disease_Homo sapiens_hsa05012	0.78183663
53	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.78073666
54	Insulin secretion_Homo sapiens_hsa04911	0.77939749
55	Oxidative phosphorylation_Homo sapiens_hsa00190	0.75868710
56	FoxO signaling pathway_Homo sapiens_hsa04068	0.73371539
57	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.73069752
58	Nitrogen metabolism_Homo sapiens_hsa00910	0.72562609
59	Proteoglycans in cancer_Homo sapiens_hsa05205	0.71669825
60	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.71556544
61	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.67413076
62	Alzheimers disease_Homo sapiens_hsa05010	0.67043226
63	Rap1 signaling pathway_Homo sapiens_hsa04015	0.66633896
64	Retinol metabolism_Homo sapiens_hsa00830	0.64250559
65	Regulation of actin cytoskeleton_Homo sapiens_hsa04810	0.63196607
66	Melanogenesis_Homo sapiens_hsa04916	0.62480643
67	GABAergic synapse_Homo sapiens_hsa04727	0.59230183
68	Wnt signaling pathway_Homo sapiens_hsa04310	0.59098839
69	Axon guidance_Homo sapiens_hsa04360	0.58954521
70	Bacterial invasion of epithelial cells_Homo sapiens_hsa05100	0.58893956
71	Alcoholism_Homo sapiens_hsa05034	0.57505899
72	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.56816679
73	Platelet activation_Homo sapiens_hsa04611	0.54382465
74	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.52395001
75	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.52222985
76	PI3K-Akt signaling pathway_Homo sapiens_hsa04151	0.51614973
77	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	0.51203573
78	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.50605091
79	Phenylalanine metabolism_Homo sapiens_hsa00360	0.46790434
80	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.46645962
81	Amoebiasis_Homo sapiens_hsa05146	0.45511034
82	Pathways in cancer_Homo sapiens_hsa05200	0.45359613
83	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	0.44751868
84	Salivary secretion_Homo sapiens_hsa04970	0.43990530
85	Huntingtons disease_Homo sapiens_hsa05016	0.43975011
86	Dopaminergic synapse_Homo sapiens_hsa04728	0.42503443
87	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.40975966
88	Tyrosine metabolism_Homo sapiens_hsa00350	0.39664680
89	Mineral absorption_Homo sapiens_hsa04978	0.39284889
90	Ras signaling pathway_Homo sapiens_hsa04014	0.38583742
91	Basal transcription factors_Homo sapiens_hsa03022	0.38270417
92	Gap junction_Homo sapiens_hsa04540	0.37606960
93	Taste transduction_Homo sapiens_hsa04742	0.36120748
94	MicroRNAs in cancer_Homo sapiens_hsa05206	0.35446847
95	Renin-angiotensin system_Homo sapiens_hsa04614	0.33872288
96	Serotonergic synapse_Homo sapiens_hsa04726	0.30203081
97	Nicotine addiction_Homo sapiens_hsa05033	0.29865093
98	Chemical carcinogenesis_Homo sapiens_hsa05204	0.29691291
99	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.29587495
100	Cholinergic synapse_Homo sapiens_hsa04725	0.29507603

MESTP1

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)

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