ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	keratinocyte differentiation (GO:0030216)	9.62364777
2	multicellular organismal water homeostasis (GO:0050891)	8.77530514
3	hemidesmosome assembly (GO:0031581)	7.78509310
4	cell wall macromolecule catabolic process (GO:0016998)	7.65789744
5	cell wall macromolecule metabolic process (GO:0044036)	7.65789744
6	water homeostasis (GO:0030104)	7.25765750
7	epidermal cell differentiation (GO:0009913)	7.02757321
8	negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	6.63358519
9	intermediate filament organization (GO:0045109)	6.51027610
10	skin morphogenesis (GO:0043589)	6.26306830
11	bundle of His cell to Purkinje myocyte communication (GO:0086069)	6.24481879
12	epidermis development (GO:0008544)	6.19968636
13	long-chain fatty acid biosynthetic process (GO:0042759)	6.13154794
14	ectoderm development (GO:0007398)	5.16109865
15	regulation of keratinocyte differentiation (GO:0045616)	4.88851696
16	linoleic acid metabolic process (GO:0043651)	4.82592589
17	sarcoplasmic reticulum calcium ion transport (GO:0070296)	4.68008835
18	intermediate filament cytoskeleton organization (GO:0045104)	4.55124354
19	intermediate filament-based process (GO:0045103)	4.44747111
20	actin-myosin filament sliding (GO:0033275)	4.21000144
21	muscle filament sliding (GO:0030049)	4.21000144
22	regulation of skeletal muscle contraction (GO:0014819)	4.03093026
23	fatty acid elongation (GO:0030497)	3.97826393
24	lipoxygenase pathway (GO:0019372)	3.95149421
25	adhesion of symbiont to host cell (GO:0044650)	3.84602579
26	virion attachment to host cell (GO:0019062)	3.84602579
27	regulation of toll-like receptor 4 signaling pathway (GO:0034143)	3.74642767
28	regulation of skeletal muscle cell differentiation (GO:2001014)	3.65720947
29	regulation of cardioblast proliferation (GO:0003264)	3.58991888
30	regulation of secondary heart field cardioblast proliferation (GO:0003266)	3.58991888
31	muscle organ morphogenesis (GO:0048644)	3.57064853
32	coronary vasculature morphogenesis (GO:0060977)	3.55208947
33	skeletal muscle contraction (GO:0003009)	3.50316025
34	actin-mediated cell contraction (GO:0070252)	3.48268430
35	lymph vessel development (GO:0001945)	3.46748159
36	regulation of epidermal cell differentiation (GO:0045604)	3.43695669
37	skin development (GO:0043588)	3.41858014
38	fibrinolysis (GO:0042730)	3.35693255
39	tooth mineralization (GO:0034505)	3.35207318
40	outer ear morphogenesis (GO:0042473)	3.34227518
41	glucosamine-containing compound catabolic process (GO:1901072)	3.23046493
42	adhesion of symbiont to host (GO:0044406)	3.18567578
43	response to vitamin A (GO:0033189)	3.18360139
44	ventricular cardiac muscle cell action potential (GO:0086005)	3.16965390
45	keratinocyte proliferation (GO:0043616)	3.11179274
46	keratinocyte development (GO:0003334)	3.02861284
47	* keratinization (GO:0031424)	26.9227330
48	purine nucleotide salvage (GO:0032261)	2.94822932
49	regulation of epidermis development (GO:0045682)	2.93677493
50	regulation of relaxation of muscle (GO:1901077)	2.89111880
51	skeletal muscle adaptation (GO:0043501)	2.86915869
52	long-chain fatty-acyl-CoA metabolic process (GO:0035336)	2.85169755
53	myotube differentiation (GO:0014902)	2.83798349
54	actin filament-based movement (GO:0030048)	2.82800902
55	cell-substrate junction assembly (GO:0007044)	2.81916473
56	plasma membrane repair (GO:0001778)	2.80490092
57	epithelium development (GO:0060429)	2.78571377
58	negative regulation of cell fate specification (GO:0009996)	2.68131826
59	muscle cell fate commitment (GO:0042693)	2.64325004
60	regulation of heart rate by cardiac conduction (GO:0086091)	2.63320354
61	surfactant homeostasis (GO:0043129)	2.61737573
62	positive regulation of monocyte chemotaxis (GO:0090026)	2.59789061
63	positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	2.57515721
64	fatty-acyl-CoA metabolic process (GO:0035337)	2.57380432
65	atrioventricular valve morphogenesis (GO:0003181)	2.54002230
66	positive regulation of myotube differentiation (GO:0010831)	2.52816340
67	phosphatidylinositol acyl-chain remodeling (GO:0036149)	2.52046547
68	wound healing (GO:0042060)	2.50063132
69	negative regulation of toll-like receptor signaling pathway (GO:0034122)	2.46556395
70	negative regulation of heart growth (GO:0061117)	2.46029632
71	negative regulation of cardiac muscle tissue growth (GO:0055022)	2.46029632
72	planar cell polarity pathway involved in neural tube closure (GO:0090179)	2.45371486
73	primary alcohol catabolic process (GO:0034310)	2.45003436
74	skeletal muscle fiber development (GO:0048741)	2.41114056
75	cellular response to retinoic acid (GO:0071300)	2.39386065
76	innate immune response in mucosa (GO:0002227)	2.39044411
77	epithelial cell differentiation (GO:0030855)	2.38945664
78	embryonic viscerocranium morphogenesis (GO:0048703)	2.38110643
79	epithelial cell-cell adhesion (GO:0090136)	2.38084445
80	hair follicle morphogenesis (GO:0031069)	2.37568146
81	cytidine deamination (GO:0009972)	2.36027520
82	cytidine metabolic process (GO:0046087)	2.36027520
83	cytidine catabolic process (GO:0006216)	2.36027520
84	negative regulation of keratinocyte proliferation (GO:0010839)	2.35921589
85	pyrimidine ribonucleoside catabolic process (GO:0046133)	2.32442692
86	cell communication involved in cardiac conduction (GO:0086065)	2.32009814
87	creatine metabolic process (GO:0006600)	2.28632902
88	striated muscle contraction (GO:0006941)	2.28390685
89	cytoskeletal anchoring at plasma membrane (GO:0007016)	2.28204211
90	cochlea morphogenesis (GO:0090103)	2.27562021
91	regulation of cardioblast differentiation (GO:0051890)	2.26431998
92	cellular response to epidermal growth factor stimulus (GO:0071364)	2.23968831
93	regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)	2.23059059
94	fatty-acyl-CoA biosynthetic process (GO:0046949)	2.21720358
95	establishment of skin barrier (GO:0061436)	15.2845440
96	regulation of water loss via skin (GO:0033561)	13.1603118
97	peptide cross-linking (GO:0018149)	12.0031596
98	molting cycle (GO:0042303)	11.8799547
99	hair cycle (GO:0042633)	11.8799547
100	desmosome organization (GO:0002934)	10.3106916

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	3.81651149
2	TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse	3.54576073
3	P63_26484246_Chip-Seq_KERATINOCYTES_Human	3.09129072
4	* ZNF652_21678463_ChIP-ChIP_ZR75-1_Human	2.64093371
5	PPARG_19300518_ChIP-PET_3T3-L1_Mouse	2.60207309
6	ZNF263_19887448_ChIP-Seq_K562_Human	2.53523730
7	ESR1_21235772_ChIP-Seq_MCF-7_Human	2.38797973
8	SMAD4_19686287_ChIP-ChIP_HaCaT_Human	2.24486154
9	TP63_17297297_ChIP-ChIP_HaCaT_Human	14.3371673
10	TRIM28_21343339_ChIP-Seq_HEK293_Human	1.85171698
11	SMAD2_18955504_ChIP-ChIP_HaCaT_Human	1.83863494
12	SMAD3_18955504_ChIP-ChIP_HaCaT_Human	1.83863494
13	ESR2_21235772_ChIP-Seq_MCF-7_Human	1.83746027
14	RARG_19884340_ChIP-ChIP_MEFs_Mouse	1.77188712
15	SOX9_24532713_ChIP-Seq_HFSC_Mouse	1.76451649
16	EGR1_19032775_ChIP-ChIP_M12_Human	1.76146919
17	CTCF_27219007_Chip-Seq_Bcells_Human	1.72303706
18	* CTCF_20526341_ChIP-Seq_ESCs_Human	1.69676128
19	* GATA6_21074721_ChIP-Seq_CACO-2_Mouse	1.66893329
20	RACK7_27058665_Chip-Seq_MCF-7_Human	1.55094462
21	* ERG_20517297_ChIP-Seq_VCAP_Human	1.53527813
22	* GATA6_21074721_ChIP-Seq_CACO-2_Human	1.47486534
23	PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse	1.45586050
24	ATF3_27146783_Chip-Seq_COLON_Human	1.41565339
25	TFAP2C_20629094_ChIP-Seq_MCF-7_Human	1.40070631
26	FOXO3_23340844_ChIP-Seq_DLD1_Human	1.38823898
27	TP63_22573176_ChIP-Seq_HFKS_Human	1.38431553
28	KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human	1.37479195
29	CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human	1.37065029
30	* BCOR_27268052_Chip-Seq_Bcells_Human	1.31957538
31	E2F1_20622854_ChIP-Seq_HELA_Human	1.30621974
32	GATA3_24758297_ChIP-Seq_MCF-7_Human	1.29910401
33	CJUN_26792858_Chip-Seq_BT549_Human	1.29841722
34	TP63_23658742_ChIP-Seq_EP156T_Human	1.28932342
35	NANOG_20526341_ChIP-Seq_ESCs_Human	1.27710006
36	SOX2_20726797_ChIP-Seq_SW620_Human	1.27691378
37	DNAJC2_21179169_ChIP-ChIP_NT2_Human	1.26144176
38	SMAD2/3_21741376_ChIP-Seq_ESCs_Human	1.24897728
39	ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human	1.22528785
40	RXR_22108803_ChIP-Seq_LS180_Human	1.22062357
41	BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human	1.19479118
42	ESR1_17901129_ChIP-ChIP_LIVER_Mouse	1.19356734
43	BCL6_27268052_Chip-Seq_Bcells_Human	1.18942302
44	KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human	1.18841781
45	TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	1.18736242
46	P63_20808887_ChIP-Seq_KERATINOCYTES_Human	1.18547459
47	LXR_22292898_ChIP-Seq_THP-1_Human	1.17660419
48	HIF1A_21447827_ChIP-Seq_MCF-7_Human	1.16116686
49	UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human	1.14055126
50	SA1_27219007_Chip-Seq_ERYTHROID_Human	1.11319982
51	P68_20966046_ChIP-Seq_HELA_Human	1.10658160
52	RUNX1_27514584_Chip-Seq_MCF-7_Human	1.10147085
53	CDX2_19796622_ChIP-Seq_MESCs_Mouse	1.10017783
54	CLOCK_20551151_ChIP-Seq_293T_Human	1.06210238
55	CEBPB_22108803_ChIP-Seq_LS180_Human	1.05350592
56	SUZ12_27294783_Chip-Seq_ESCs_Mouse	1.02278570
57	STAT6_21828071_ChIP-Seq_BEAS2B_Human	0.99300712
58	* YY1_22570637_ChIP-Seq_MALME-3M_Human	0.99071727
59	KLF5_25053715_ChIP-Seq_YYC3_Human	0.98872921
60	CSB_26484114_Chip-Seq_FIBROBLAST_Human	0.98256717
61	NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse	0.96409295
62	TAF2_19829295_ChIP-Seq_ESCs_Human	0.94999538
63	CDX2_21074721_ChIP-Seq_CACO-2_Mouse	0.93604701
64	ELK3_25401928_ChIP-Seq_HUVEC_Human	0.92969703
65	TBX20_22328084_ChIP-Seq_HEART_Mouse	0.90473294
66	TBX20_22080862_ChIP-Seq_HEART_Mouse	0.90473294
67	RUNX2_24764292_ChIP-Seq_MC3T3_Mouse	0.89054563
68	OCT1_27270436_Chip-Seq_PROSTATE_Human	0.88144513
69	FOXH1_21741376_ChIP-Seq_ESCs_Human	0.87300797
70	SPI1_20517297_ChIP-Seq_HL60_Human	0.86871722
71	AR_21915096_ChIP-Seq_LNCaP-1F5_Human	0.86468453
72	P53_21459846_ChIP-Seq_SAOS-2_Human	0.86428911
73	P300_27058665_Chip-Seq_ZR-75-30cells_Human	0.85078648
74	TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse	0.84704976
75	JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	0.84143800
76	ESR1_20079471_ChIP-ChIP_T-47D_Human	0.83831212
77	KDM2B_26808549_Chip-Seq_DND41_Human	0.83736513
78	JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	0.83474767
79	* SMC4_20622854_ChIP-Seq_HELA_Human	0.83258439
80	ERG_21242973_ChIP-ChIP_JURKAT_Human	0.80441019
81	TP53_20018659_ChIP-ChIP_R1E_Mouse	0.80438300
82	VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human	0.79318484
83	ZNF217_24962896_ChIP-Seq_MCF-7_Human	0.79309914
84	UBF1/2_26484160_Chip-Seq_HMECs_Human	0.79307366
85	CREB1_26743006_Chip-Seq_LNCaP-abl_Human	0.78396607
86	TCF4_18268006_ChIP-ChIP_LS174T_Human	0.78389331
87	* RAC3_21632823_ChIP-Seq_H3396_Human	0.77892001
88	SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse	0.77543438
89	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	0.77360709
90	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	0.77331768
91	BMI1_19503595_ChIP-Seq_MEFsC_Mouse	0.77087249
92	PPARA_22158963_ChIP-Seq_LIVER_Mouse	0.76831891
93	JARID2_20075857_ChIP-Seq_MESCs_Mouse	0.73822219
94	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	0.73373571
95	BCL6_25482012_ChIP-Seq_CML-JURL-MK1_Human	0.72423876
96	EZH2_27294783_Chip-Seq_ESCs_Mouse	0.72293527
97	TP53_16413492_ChIP-PET_HCT116_Human	0.72069250
98	AR_21572438_ChIP-Seq_LNCaP_Human	0.71896469
99	GATA6_25053715_ChIP-Seq_YYC3_Human	0.71569689
100	SUZ12_18692474_ChIP-Seq_MEFs_Mouse	0.71526250

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002796_impaired_skin_barrier	8.73441584
2	MP0005275_abnormal_skin_tensile	7.06209166
3	MP0000579_abnormal_nail_morphology	6.03463151
4	MP0005501_abnormal_skin_physiology	5.42126872
5	MP0000467_abnormal_esophagus_morphology	3.70491051
6	MP0010234_abnormal_vibrissa_follicle	3.51492435
7	MP0003705_abnormal_hypodermis_morpholog	3.42761503
8	MP0001216_abnormal_epidermal_layer	3.09682676
9	MP0002234_abnormal_pharynx_morphology	2.96512296
10	MP0010771_integument_phenotype	2.92329682
11	MP0004947_skin_inflammation	2.89900620
12	MP0000647_abnormal_sebaceous_gland	2.68706466
13	MP0000383_abnormal_hair_follicle	2.65311166
14	MP0000762_abnormal_tongue_morphology	2.62958237
15	MP0002060_abnormal_skin_morphology	2.61501178
16	MP0010678_abnormal_skin_adnexa	2.39075084
17	MP0003453_abnormal_keratinocyte_physiol	2.38175044
18	MP0004381_abnormal_hair_follicle	2.20282068
19	MP0003941_abnormal_skin_development	2.09533706
20	MP0000377_abnormal_hair_follicle	2.09454752
21	MP0002098_abnormal_vibrissa_morphology	2.08712690
22	MP0000427_abnormal_hair_cycle	2.08554687
23	MP0002254_reproductive_system_inflammat	2.07033275
24	MP0001188_hyperpigmentation	2.02312476
25	MP0001243_abnormal_dermal_layer	1.94653064
26	MP0005451_abnormal_body_composition	1.81674794
27	MP0004185_abnormal_adipocyte_glucose	1.78156546
28	MP0000751_myopathy	1.76520523
29	MP0009931_abnormal_skin_appearance	1.64120942
30	MP0003191_abnormal_cellular_cholesterol	1.58853032
31	MP0003566_abnormal_cell_adhesion	1.58735469
32	MP0000749_muscle_degeneration	1.56469018
33	MP0002095_abnormal_skin_pigmentation	1.49390948
34	MP0001191_abnormal_skin_condition	1.42857822
35	MP0000367_abnormal_coat/_hair	1.37156003
36	MP0003646_muscle_fatigue	1.18877252
37	MP0005409_darkened_coat_color	1.10857463
38	MP0000747_muscle_weakness	1.10711411
39	MP0001851_eye_inflammation	0.98451542
40	MP0002837_dystrophic_cardiac_calcinosis	0.98205125
41	MP0000465_gastrointestinal_hemorrhage	0.97589389
42	MP0003950_abnormal_plasma_membrane	0.89495734
43	MP0000750_abnormal_muscle_regeneration	0.85603928
44	MP0000759_abnormal_skeletal_muscle	0.85549640
45	MP0005023_abnormal_wound_healing	0.84736757
46	MP0009053_abnormal_anal_canal	0.82860810
47	MP0002106_abnormal_muscle_physiology	0.82471088
48	MP0004087_abnormal_muscle_fiber	0.81908348
49	MP0008438_abnormal_cutaneous_collagen	0.81805316
50	MP0000733_abnormal_muscle_development	0.80280480
51	MP0000678_abnormal_parathyroid_gland	0.78817515
52	MP0001849_ear_inflammation	0.78475083
53	MP0005666_abnormal_adipose_tissue	0.78125536
54	MP0004145_abnormal_muscle_electrophysio	0.76576970
55	MP0001784_abnormal_fluid_regulation	0.76159866
56	MP0004130_abnormal_muscle_cell	0.73882644
57	MP0004036_abnormal_muscle_relaxation	0.70370868
58	MP0001879_abnormal_lymphatic_vessel	0.66939481
59	MP0005620_abnormal_muscle_contractility	0.61550602
60	MP0005369_muscle_phenotype	0.61492308
61	MP0004782_abnormal_surfactant_physiolog	0.60776922
62	MP0002177_abnormal_outer_ear	0.60379893
63	MP0003755_abnormal_palate_morphology	0.56220199
64	MP0005330_cardiomyopathy	0.54333615
65	MP0010030_abnormal_orbit_morphology	0.52706453
66	MP0001340_abnormal_eyelid_morphology	0.52532481
67	MP0001346_abnormal_lacrimal_gland	0.51296109
68	MP0005375_adipose_tissue_phenotype	0.49692276
69	MP0002972_abnormal_cardiac_muscle	0.45533759
70	MP0004084_abnormal_cardiac_muscle	0.45313593
71	MP0010352_gastrointestinal_tract_polyps	0.44394251
72	MP0002269_muscular_atrophy	0.42002493
73	MP0002332_abnormal_exercise_endurance	0.40369485
74	MP0000470_abnormal_stomach_morphology	0.38203312
75	MP0002249_abnormal_larynx_morphology	0.37880009
76	MP0001958_emphysema	0.36242476
77	MP0000343_altered_response_to	0.34840911
78	MP0010368_abnormal_lymphatic_system	0.34653778
79	MP0003252_abnormal_bile_duct	0.34223855
80	MP0003329_amyloid_beta_deposits	0.33186414
81	MP0002127_abnormal_cardiovascular_syste	0.31579365
82	MP0002971_abnormal_brown_adipose	0.29012931
83	MP0002282_abnormal_trachea_morphology	0.28818710
84	MP0001186_pigmentation_phenotype	0.28582566
85	MP0004885_abnormal_endolymph	0.28331173
86	MP0001177_atelectasis	0.27456804
87	MP0003075_altered_response_to	0.26166619
88	MP0004858_abnormal_nervous_system	0.25349981
89	MP0010630_abnormal_cardiac_muscle	0.25324161
90	MP0004272_abnormal_basement_membrane	0.25067139
91	MP0002111_abnormal_tail_morphology	0.24476036
92	MP0004270_analgesia	0.23276794
93	MP0005193_abnormal_anterior_eye	0.23267134
94	MP0008569_lethality_at_weaning	0.22876082
95	MP0009697_abnormal_copulation	0.22349334
96	MP0008961_abnormal_basal_metabolism	0.22039369
97	MP0003385_abnormal_body_wall	0.21832516
98	MP0000371_diluted_coat_color	0.20909651
99	MP0005388_respiratory_system_phenotype	0.20759795
100	MP0002133_abnormal_respiratory_system	0.20759795

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Abnormality of nail color (HP:0100643)	9.82055477
2	Increased IgE level (HP:0003212)	9.66626003
3	Oral leukoplakia (HP:0002745)	9.51537401
4	Palmoplantar hyperkeratosis (HP:0000972)	6.68030610
5	Conjunctival hamartoma (HP:0100780)	6.65298149
6	Thick nail (HP:0001805)	6.43632332
7	Palmar hyperkeratosis (HP:0010765)	6.29965947
8	Plantar hyperkeratosis (HP:0007556)	6.24036000
9	Hypotrichosis (HP:0001006)	6.00364213
10	Onycholysis (HP:0001806)	5.64726708
11	Woolly hair (HP:0002224)	5.10254004
12	Erythroderma (HP:0001019)	5.06975297
13	Right ventricular cardiomyopathy (HP:0011663)	4.89334028
14	Erythema (HP:0010783)	4.58162902
15	Congenital ichthyosiform erythroderma (HP:0007431)	4.57487523
16	Pili torti (HP:0003777)	4.51725706
17	Alopecia of scalp (HP:0002293)	4.41277529
18	Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)	4.36884008
19	Muscle fiber inclusion bodies (HP:0100299)	4.29834411
20	Hamartoma of the eye (HP:0010568)	4.27947440
21	Distal arthrogryposis (HP:0005684)	4.21839671
22	Follicular hyperkeratosis (HP:0007502)	4.18625066
23	Nemaline bodies (HP:0003798)	4.01949888
24	Fragile nails (HP:0001808)	3.98600431
25	Congenital nonbullous ichthyosiform erythroderma (HP:0007479)	3.86842460
26	Gangrene (HP:0100758)	3.84024293
27	Abnormal blistering of the skin (HP:0008066)	3.82847889
28	Type 1 muscle fiber predominance (HP:0003803)	3.78978138
29	Exercise-induced myalgia (HP:0003738)	3.78019176
30	Milia (HP:0001056)	3.75551378
31	Round ear (HP:0100830)	3.72973043
32	Increased connective tissue (HP:0009025)	3.46400798
33	Palmoplantar keratoderma (HP:0000982)	3.45174606
34	Ulnar deviation of the wrist (HP:0003049)	3.32966707
35	Myopathic facies (HP:0002058)	3.30818250
36	Nail dystrophy (HP:0008404)	3.29258000
37	Hyporeflexia of lower limbs (HP:0002600)	3.26516887
38	Ectropion (HP:0000656)	3.05345197
39	Corneal erosion (HP:0200020)	3.05287752
40	Calcaneovalgus deformity (HP:0001848)	3.02062927
41	Muscle fiber splitting (HP:0003555)	2.98965688
42	Difficulty running (HP:0009046)	2.88631702
43	Exercise-induced muscle cramps (HP:0003710)	2.88128909
44	Absent phalangeal crease (HP:0006109)	2.81426249
45	Hypergammaglobulinemia (HP:0010702)	2.81374120
46	Abnormal hair laboratory examination (HP:0003328)	2.72838568
47	Eczematoid dermatitis (HP:0000976)	2.66359088
48	Deformed tarsal bones (HP:0008119)	2.65544641
49	Hypohidrosis (HP:0000966)	2.59321296
50	Laryngomalacia (HP:0001601)	2.50531941
51	Pruritus (HP:0000989)	2.46267588
52	Ventricular tachycardia (HP:0004756)	2.39976212
53	Distal lower limb muscle weakness (HP:0009053)	2.37172057
54	Muscle hypertrophy of the lower extremities (HP:0008968)	2.35556065
55	Verrucae (HP:0200043)	2.33569452
56	Papilloma (HP:0012740)	2.33569452
57	Ridged nail (HP:0001807)	2.33003130
58	Calf muscle hypertrophy (HP:0008981)	2.32473507
59	Unilateral renal agenesis (HP:0000122)	2.30402086
60	Abnormal finger flexion creases (HP:0006143)	2.29108093
61	Abnormality of skeletal muscle fiber size (HP:0012084)	2.28508763
62	Abnormality of the neuromuscular junction (HP:0003398)	2.27188744
63	Fatigable weakness (HP:0003473)	2.27188744
64	Myoglobinuria (HP:0002913)	2.24722122
65	Neck muscle weakness (HP:0000467)	2.24510880
66	Increased variability in muscle fiber diameter (HP:0003557)	2.24112101
67	Advanced eruption of teeth (HP:0006288)	2.15216757
68	Lip pit (HP:0100267)	2.13656236
69	Paralysis (HP:0003470)	2.10223715
70	Frequent falls (HP:0002359)	2.07146389
71	Rimmed vacuoles (HP:0003805)	2.05572997
72	Corneal dystrophy (HP:0001131)	2.01552884
73	Lack of skin elasticity (HP:0100679)	1.96649491
74	EMG: myopathic abnormalities (HP:0003458)	1.95712891
75	Hyperhidrosis (HP:0000975)	1.95310742
76	Sparse eyelashes (HP:0000653)	1.93244364
77	Distal lower limb amyotrophy (HP:0008944)	1.92348062
78	Anonychia (HP:0001798)	1.89764406
79	Atrophic scars (HP:0001075)	1.86996716
80	Abnormality of the calf musculature (HP:0001430)	1.86192378
81	Abnormality of the calcaneus (HP:0008364)	1.84553665
82	Sudden death (HP:0001699)	1.84021196
83	Double outlet right ventricle (HP:0001719)	1.82942916
84	Congenital malformation of the right heart (HP:0011723)	1.82942916
85	Areflexia of lower limbs (HP:0002522)	1.82240071
86	Ventricular fibrillation (HP:0001663)	1.80845690
87	Difficulty climbing stairs (HP:0003551)	1.78604911
88	Achilles tendon contracture (HP:0001771)	1.78586031
89	Muscle stiffness (HP:0003552)	1.74066398
90	Curly hair (HP:0002212)	1.73294149
91	Natal tooth (HP:0000695)	1.72067263
92	Scapular winging (HP:0003691)	1.70132327
93	Hamartoma (HP:0010566)	1.67006662
94	Autoimmune thrombocytopenia (HP:0001973)	1.66893080
95	Hyperthyroidism (HP:0000836)	1.66727615
96	Abnormality of the Achilles tendon (HP:0005109)	1.65411836
97	Malignant hyperthermia (HP:0002047)	1.59719706
98	Abnormality of the aortic arch (HP:0012303)	1.54505886
99	Rhabdomyolysis (HP:0003201)	1.54302556
100	Spinal rigidity (HP:0003306)	1.53278717

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	TTN	7.20676108
2	PIK3CG	4.38374212
3	OBSCN	3.26364315
4	FER	3.21399474
5	MAP3K3	3.07931020
6	TRIB3	2.96927121
7	MAPKAPK3	2.78810386
8	ERN1	2.65994455
9	MST1R	2.62075183
10	MAP3K11	2.61379715
11	TIE1	2.54539296
12	MAP2K3	2.45656384
13	TAOK1	2.31962066
14	PHKG2	2.00936452
15	PHKG1	2.00936452
16	FGFR1	2.00567262
17	NME1	1.83372828
18	RIPK1	1.82513582
19	NEK1	1.75305436
20	MAP2K6	1.72137655
21	EPHB2	1.56612323
22	MAP3K2	1.53812442
23	EPHB1	1.39484255
24	PDK3	1.37282747
25	PDK4	1.37282747
26	MAP3K9	1.33026366
27	DMPK	1.29780401
28	MAP2K4	1.23683745
29	EPHA2	1.22395624
30	LATS1	1.19834811
31	MAP3K1	1.19215401
32	PKN2	1.17815242
33	RPS6KA4	1.17172221
34	RPS6KB2	1.14341848
35	MAP3K6	1.13319274
36	MAP3K7	1.04864868
37	TRPM7	0.97563048
38	TGFBR2	0.96599936
39	MET	0.94195572
40	LRRK2	0.93498653
41	PDK2	0.89991862
42	LATS2	0.89489024
43	FGFR4	0.86208857
44	PTK6	0.80415896
45	EPHA3	0.76048007
46	BLK	0.74478053
47	MAPK12	0.73387421
48	EEF2K	0.73137260
49	FGR	0.66938328
50	BCR	0.66478777
51	DDR2	0.63939800
52	PDGFRA	0.63692789
53	KSR2	0.63113255
54	ERBB3	0.62054587
55	PRKD1	0.61707892
56	MAPKAPK2	0.60235830
57	LIMK1	0.60218065
58	MAP2K1	0.59882468
59	TAOK2	0.56488977
60	MAPK11	0.56433092
61	FGFR3	0.53020879
62	BMX	0.51904380
63	TYK2	0.46466874
64	TESK1	0.44910544
65	CDK6	0.39675386
66	FGFR2	0.38951714
67	ILK	0.38252059
68	MAP3K5	0.37469557
69	MST4	0.35208771
70	STK24	0.34982350
71	PIK3CA	0.34347249
72	PINK1	0.34243882
73	PTK2	0.33093428
74	MAP3K12	0.31583440
75	PKN1	0.31452522
76	PAK2	0.31119199
77	NTRK2	0.28131506
78	MAPKAPK5	0.27246548
79	SGK1	0.26632497
80	PRKCH	0.25719813
81	BCKDK	0.25116586
82	TBK1	0.24880816
83	RET	0.24275544
84	ERBB2	0.23945230
85	RPS6KA1	0.23682145
86	CSK	0.22876768
87	PAK3	0.22314552
88	JAK1	0.21491362
89	ROCK2	0.21420572
90	MAPK4	0.19989645
91	FYN	0.19884838
92	TYRO3	0.19243158
93	DYRK1B	0.18812531
94	GSK3A	0.18749031
95	LMTK2	0.18074068
96	ROCK1	0.17758569
97	MAP3K8	0.16713768
98	PRKACA	0.16695627
99	CAMK2G	0.16089631
100	AKT2	0.15804763

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Phenylalanine metabolism_Homo sapiens_hsa00360	3.46183183
2	Fat digestion and absorption_Homo sapiens_hsa04975	3.45239316
3	Salivary secretion_Homo sapiens_hsa04970	3.03974618
4	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	2.50009940
5	Fatty acid elongation_Homo sapiens_hsa00062	2.44479001
6	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	2.38327662
7	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.19535276
8	Linoleic acid metabolism_Homo sapiens_hsa00591	2.18774593
9	Histidine metabolism_Homo sapiens_hsa00340	2.08033301
10	Tyrosine metabolism_Homo sapiens_hsa00350	1.87056236
11	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.85422547
12	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	1.79585096
13	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	1.77168042
14	GnRH signaling pathway_Homo sapiens_hsa04912	1.75071034
15	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	1.69250117
16	beta-Alanine metabolism_Homo sapiens_hsa00410	1.52825540
17	VEGF signaling pathway_Homo sapiens_hsa04370	1.47465363
18	Pertussis_Homo sapiens_hsa05133	1.47290565
19	Glycerolipid metabolism_Homo sapiens_hsa00561	1.45740926
20	Phototransduction_Homo sapiens_hsa04744	1.42203501
21	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.42082483
22	Staphylococcus aureus infection_Homo sapiens_hsa05150	1.41335292
23	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	1.32699349
24	Renin secretion_Homo sapiens_hsa04924	1.28399716
25	Fatty acid degradation_Homo sapiens_hsa00071	1.27059719
26	Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750	1.26407783
27	Dilated cardiomyopathy_Homo sapiens_hsa05414	1.24557151
28	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	1.24208519
29	Gastric acid secretion_Homo sapiens_hsa04971	1.17734047
30	Vascular smooth muscle contraction_Homo sapiens_hsa04270	1.16555519
31	ECM-receptor interaction_Homo sapiens_hsa04512	1.14227352
32	Tight junction_Homo sapiens_hsa04530	1.12986094
33	Chemical carcinogenesis_Homo sapiens_hsa05204	1.06260713
34	Ether lipid metabolism_Homo sapiens_hsa00565	1.05645187
35	Cardiac muscle contraction_Homo sapiens_hsa04260	1.05515236
36	Arginine biosynthesis_Homo sapiens_hsa00220	1.01617951
37	Glucagon signaling pathway_Homo sapiens_hsa04922	0.97893773
38	Olfactory transduction_Homo sapiens_hsa04740	0.97777535
39	Alzheimers disease_Homo sapiens_hsa05010	0.97101435
40	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	0.96760611
41	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.96297673
42	Caffeine metabolism_Homo sapiens_hsa00232	0.93865498
43	Glioma_Homo sapiens_hsa05214	0.92966433
44	PPAR signaling pathway_Homo sapiens_hsa03320	0.92404442
45	Proteoglycans in cancer_Homo sapiens_hsa05205	0.90400135
46	Melanogenesis_Homo sapiens_hsa04916	0.89921208
47	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	0.88950535
48	Long-term potentiation_Homo sapiens_hsa04720	0.87189038
49	Insulin signaling pathway_Homo sapiens_hsa04910	0.86972217
50	Insulin resistance_Homo sapiens_hsa04931	0.86570335
51	Carbon metabolism_Homo sapiens_hsa01200	0.80944581
52	Adherens junction_Homo sapiens_hsa04520	0.80103870
53	Amoebiasis_Homo sapiens_hsa05146	0.80099987
54	Nitrogen metabolism_Homo sapiens_hsa00910	0.78451300
55	Focal adhesion_Homo sapiens_hsa04510	0.76710410
56	Estrogen signaling pathway_Homo sapiens_hsa04915	0.76482510
57	Long-term depression_Homo sapiens_hsa04730	0.76337048
58	Steroid biosynthesis_Homo sapiens_hsa00100	0.74705967
59	Fc epsilon RI signaling pathway_Homo sapiens_hsa04664	0.74559653
60	Leukocyte transendothelial migration_Homo sapiens_hsa04670	0.74366045
61	Platelet activation_Homo sapiens_hsa04611	0.70724011
62	Fatty acid metabolism_Homo sapiens_hsa01212	0.68483952
63	Calcium signaling pathway_Homo sapiens_hsa04020	0.66210588
64	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.63900108
65	Adipocytokine signaling pathway_Homo sapiens_hsa04920	0.61695678
66	Bladder cancer_Homo sapiens_hsa05219	0.60596940
67	Central carbon metabolism in cancer_Homo sapiens_hsa05230	0.59184767
68	Toxoplasmosis_Homo sapiens_hsa05145	0.58928626
69	Axon guidance_Homo sapiens_hsa04360	0.55682105
70	AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933	0.54284106
71	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.53970301
72	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.53662425
73	Propanoate metabolism_Homo sapiens_hsa00640	0.53552748
74	Circadian entrainment_Homo sapiens_hsa04713	0.52587774
75	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.49954182
76	Sphingolipid metabolism_Homo sapiens_hsa00600	0.48459038
77	Basal cell carcinoma_Homo sapiens_hsa05217	0.47761049
78	Rap1 signaling pathway_Homo sapiens_hsa04015	0.47204180
79	Pancreatic secretion_Homo sapiens_hsa04972	0.47081474
80	Tuberculosis_Homo sapiens_hsa05152	0.46037789
81	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.45937927
82	Acute myeloid leukemia_Homo sapiens_hsa05221	0.45662435
83	Ras signaling pathway_Homo sapiens_hsa04014	0.44553625
84	Salmonella infection_Homo sapiens_hsa05132	0.43925792
85	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.43106806
86	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.42325641
87	Sphingolipid signaling pathway_Homo sapiens_hsa04071	0.41648501
88	Neurotrophin signaling pathway_Homo sapiens_hsa04722	0.41315972
89	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	0.40930371
90	Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666	0.40853295
91	Serotonergic synapse_Homo sapiens_hsa04726	0.38951511
92	Hippo signaling pathway_Homo sapiens_hsa04390	0.36432030
93	ABC transporters_Homo sapiens_hsa02010	0.31504234
94	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	0.31410963
95	Renal cell carcinoma_Homo sapiens_hsa05211	0.30701666
96	Amphetamine addiction_Homo sapiens_hsa05031	0.30163286
97	Retinol metabolism_Homo sapiens_hsa00830	0.28896130
98	MAPK signaling pathway_Homo sapiens_hsa04010	0.28735108
99	Regulation of actin cytoskeleton_Homo sapiens_hsa04810	0.28366826
100	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	0.28332707

LCE3C

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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