ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	sarcoplasmic reticulum calcium ion transport (GO:0070296)	7.39839141
2	keratinocyte differentiation (GO:0030216)	6.93668024
3	regulation of keratinocyte differentiation (GO:0045616)	6.93602234
4	establishment of skin barrier (GO:0061436)	6.30469782
5	response to vitamin A (GO:0033189)	6.14199602
6	regulation of toll-like receptor 4 signaling pathway (GO:0034143)	6.03757045
7	coronary vasculature morphogenesis (GO:0060977)	5.67331108
8	long-chain fatty acid biosynthetic process (GO:0042759)	5.63812758
9	regulation of water loss via skin (GO:0033561)	5.57618405
10	desmosome organization (GO:0002934)	5.40980989
11	regulation of relaxation of muscle (GO:1901077)	5.37136464
12	lymph vessel development (GO:0001945)	5.30801180
13	skeletal muscle contraction (GO:0003009)	5.13232580
14	regulation of skeletal muscle contraction (GO:0014819)	5.12275262
15	outer ear morphogenesis (GO:0042473)	5.10006044
16	actin-myosin filament sliding (GO:0033275)	5.02724319
17	muscle filament sliding (GO:0030049)	5.02724319
18	embryonic viscerocranium morphogenesis (GO:0048703)	5.00935307
19	muscle organ morphogenesis (GO:0048644)	4.98810844
20	linoleic acid metabolic process (GO:0043651)	4.97784735
21	regulation of cardioblast proliferation (GO:0003264)	4.97577371
22	regulation of secondary heart field cardioblast proliferation (GO:0003266)	4.97577371
23	epidermal cell differentiation (GO:0009913)	4.84970601
24	purine nucleotide salvage (GO:0032261)	4.65385124
25	regulation of skeletal muscle cell differentiation (GO:2001014)	4.49451776
26	tooth mineralization (GO:0034505)	4.48921974
27	innate immune response in mucosa (GO:0002227)	4.48156196
28	regulation of epidermal cell differentiation (GO:0045604)	4.40718981
29	molting cycle (GO:0042303)	4.31439782
30	hair cycle (GO:0042633)	4.31439782
31	multicellular organismal water homeostasis (GO:0050891)	4.08679747
32	actin-mediated cell contraction (GO:0070252)	4.08162286
33	cellular response to retinoic acid (GO:0071300)	4.07379859
34	hemidesmosome assembly (GO:0031581)	4.07345737
35	bundle of His cell to Purkinje myocyte communication (GO:0086069)	3.99263631
36	cellular response to epidermal growth factor stimulus (GO:0071364)	3.83722726
37	lipoxygenase pathway (GO:0019372)	3.81344423
38	muscle cell fate commitment (GO:0042693)	3.75537024
39	histamine secretion (GO:0001821)	3.69633198
40	epidermis development (GO:0008544)	3.63412093
41	negative regulation of toll-like receptor signaling pathway (GO:0034122)	3.61997070
42	mucosal immune response (GO:0002385)	3.58868345
43	organ or tissue specific immune response (GO:0002251)	3.38264053
44	Peyers patch development (GO:0048541)	3.37962980
45	mucosal-associated lymphoid tissue development (GO:0048537)	3.37962980
46	negative regulation of calcium ion transmembrane transport (GO:1903170)	3.34912581
47	negative regulation of calcium ion transmembrane transporter activity (GO:1901020)	3.34912581
48	water homeostasis (GO:0030104)	3.34060779
49	negative regulation of thymocyte apoptotic process (GO:0070244)	3.26948078
50	actin filament-based movement (GO:0030048)	3.25599464
51	creatine metabolic process (GO:0006600)	3.25223423
52	plasma membrane repair (GO:0001778)	3.24214936
53	cellular response to glucocorticoid stimulus (GO:0071385)	3.18935901
54	regulation of penile erection (GO:0060405)	3.17370022
55	regulation of epidermis development (GO:0045682)	3.15758471
56	positive regulation of myotube differentiation (GO:0010831)	3.12444400
57	adenosine metabolic process (GO:0046085)	3.11312414
58	regulation of heart morphogenesis (GO:2000826)	3.10772952
59	cellular response to corticosteroid stimulus (GO:0071384)	3.09930545
60	response to epidermal growth factor (GO:0070849)	3.06104788
61	myotube differentiation (GO:0014902)	3.02858460
62	* keratinization (GO:0031424)	20.6460555
63	striated muscle contraction (GO:0006941)	2.93261169
64	myofibril assembly (GO:0030239)	2.83226579
65	positive regulation of protein depolymerization (GO:1901881)	2.82336112
66	mature B cell differentiation involved in immune response (GO:0002313)	2.78845536
67	skeletal muscle adaptation (GO:0043501)	2.77528556
68	histamine transport (GO:0051608)	2.76915377
69	skin morphogenesis (GO:0043589)	2.75759039
70	positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)	2.74262375
71	response to vitamin E (GO:0033197)	2.74189084
72	intermediate filament organization (GO:0045109)	2.74026116
73	negative regulation of mesenchymal cell apoptotic process (GO:2001054)	2.73534739
74	regulation of germinal center formation (GO:0002634)	2.72157339
75	cranial nerve morphogenesis (GO:0021602)	2.68078587
76	ectoderm development (GO:0007398)	2.67165394
77	aorta morphogenesis (GO:0035909)	2.63388277
78	outflow tract septum morphogenesis (GO:0003148)	2.62611641
79	regulation of cell proliferation involved in heart morphogenesis (GO:2000136)	2.55750508
80	sarcomere organization (GO:0045214)	2.54722452
81	skeletal muscle fiber development (GO:0048741)	2.54179187
82	surfactant homeostasis (GO:0043129)	2.53972992
83	positive regulation of skeletal muscle tissue development (GO:0048643)	2.52822235
84	skeletal muscle tissue regeneration (GO:0043403)	2.52608242
85	response to muscle activity (GO:0014850)	2.50794123
86	cochlea morphogenesis (GO:0090103)	2.49596955
87	positive regulation of T cell differentiation in thymus (GO:0033089)	2.46187065
88	wound healing (GO:0042060)	2.42655491
89	endothelium development (GO:0003158)	2.42303335
90	lymphangiogenesis (GO:0001946)	2.41480114
91	muscle contraction (GO:0006936)	2.40776291
92	negative regulation of B cell apoptotic process (GO:0002903)	2.40388553
93	tricarboxylic acid cycle (GO:0006099)	2.39131469
94	negative regulation of potassium ion transmembrane transporter activity (GO:1901017)	2.36231481
95	response to retinoic acid (GO:0032526)	2.34980088
96	negative regulation of ion transmembrane transporter activity (GO:0032413)	2.27025243
97	cell wall macromolecule catabolic process (GO:0016998)	12.1507573
98	cell wall macromolecule metabolic process (GO:0044036)	12.1507573
99	negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	11.7386980
100	peptide cross-linking (GO:0018149)	10.3999439

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	TP63_17297297_ChIP-ChIP_HaCaT_Human	9.80837672
2	ZNF652_21678463_ChIP-ChIP_ZR75-1_Human	7.16917825
3	PPARG_19300518_ChIP-PET_3T3-L1_Mouse	3.51475478
4	TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse	3.25817153
5	ESR1_21235772_ChIP-Seq_MCF-7_Human	2.95607144
6	TRIM28_21343339_ChIP-Seq_HEK293_Human	2.87176744
7	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	2.43071310
8	RARG_19884340_ChIP-ChIP_MEFs_Mouse	2.09689370
9	ESR2_21235772_ChIP-Seq_MCF-7_Human	2.08852945
10	CDX2_19796622_ChIP-Seq_MESCs_Mouse	1.95944576
11	P63_26484246_Chip-Seq_KERATINOCYTES_Human	1.90160569
12	* CTCF_27219007_Chip-Seq_Bcells_Human	1.76542536
13	ESR1_17901129_ChIP-ChIP_LIVER_Mouse	1.74900687
14	* CTCF_20526341_ChIP-Seq_ESCs_Human	1.73787669
15	ZNF263_19887448_ChIP-Seq_K562_Human	1.73706232
16	BP1_19119308_ChIP-ChIP_Hs578T_Human	1.67670038
17	VDR_22108803_ChIP-Seq_LS180_Human	1.64988777
18	BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human	1.63189340
19	ERG_20517297_ChIP-Seq_VCAP_Human	1.61553213
20	SMAD4_19686287_ChIP-ChIP_HaCaT_Human	1.61012132
21	RACK7_27058665_Chip-Seq_MCF-7_Human	1.53917731
22	CLOCK_20551151_ChIP-Seq_293T_Human	1.48767889
23	SUZ12_27294783_Chip-Seq_ESCs_Mouse	1.41741450
24	TFAP2C_20629094_ChIP-Seq_MCF-7_Human	1.40427196
25	STAT6_21828071_ChIP-Seq_BEAS2B_Human	1.37335028
26	CJUN_26792858_Chip-Seq_BT549_Human	1.36049838
27	ESR1_20079471_ChIP-ChIP_T-47D_Human	1.33950797
28	SUZ12_18692474_ChIP-Seq_MEFs_Mouse	1.33356735
29	TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	1.31555375
30	EGR1_19032775_ChIP-ChIP_M12_Human	1.29714023
31	SMAD3_18955504_ChIP-ChIP_HaCaT_Human	1.28670073
32	SMAD2_18955504_ChIP-ChIP_HaCaT_Human	1.28670073
33	SOX2_20726797_ChIP-Seq_SW620_Human	1.27842529
34	KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human	1.26209883
35	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	1.17350791
36	BCOR_27268052_Chip-Seq_Bcells_Human	1.16930073
37	EZH2_22144423_ChIP-Seq_EOC_Human	1.14138889
38	* GATA6_21074721_ChIP-Seq_CACO-2_Mouse	1.13915578
39	NANOG_20526341_ChIP-Seq_ESCs_Human	1.13719823
40	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.12134951
41	RXR_22108803_ChIP-Seq_LS180_Human	1.12053354
42	SUZ12_20075857_ChIP-Seq_MESCs_Mouse	1.11251755
43	TBX20_22328084_ChIP-Seq_HEART_Mouse	1.08557239
44	TBX20_22080862_ChIP-Seq_HEART_Mouse	1.08557239
45	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.08514479
46	TP53_20018659_ChIP-ChIP_R1E_Mouse	1.07962883
47	RNF2_18974828_ChIP-Seq_MESCs_Mouse	1.07528049
48	EZH2_18974828_ChIP-Seq_MESCs_Mouse	1.07528049
49	DNAJC2_21179169_ChIP-ChIP_NT2_Human	1.06503323
50	KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human	1.06296773
51	PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse	1.05889417
52	GATA3_24758297_ChIP-Seq_MCF-7_Human	1.05845694
53	MTF2_20144788_ChIP-Seq_MESCs_Mouse	1.05839609
54	FOXH1_21741376_ChIP-Seq_ESCs_Human	1.05404909
55	CREB1_26743006_Chip-Seq_LNCaP-abl_Human	1.04534041
56	LXR_22292898_ChIP-Seq_THP-1_Human	1.03746082
57	SOX9_24532713_ChIP-Seq_HFSC_Mouse	1.02935976
58	RXR_22158963_ChIP-Seq_LIVER_Mouse	1.02590868
59	* GATA6_21074721_ChIP-Seq_CACO-2_Human	1.02182416
60	SMAD2/3_21741376_ChIP-Seq_ESCs_Human	1.01549699
61	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.01411242
62	TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse	0.98657762
63	SMC4_20622854_ChIP-Seq_HELA_Human	0.98637382
64	P68_20966046_ChIP-Seq_HELA_Human	0.98183725
65	ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human	0.98102342
66	OCT1_27270436_Chip-Seq_PROSTATE_Human	0.97760582
67	SA1_27219007_Chip-Seq_ERYTHROID_Human	0.97566533
68	RUNX1_27514584_Chip-Seq_MCF-7_Human	0.97419761
69	JARID2_20064375_ChIP-Seq_MESCs_Mouse	0.96682474
70	PPARA_22158963_ChIP-Seq_LIVER_Mouse	0.96142143
71	AR_21915096_ChIP-Seq_LNCaP-1F5_Human	0.95986536
72	TP63_22573176_ChIP-Seq_HFKS_Human	0.95752217
73	YY1_22570637_ChIP-Seq_MALME-3M_Human	0.95158297
74	GATA1_22025678_ChIP-Seq_K562_Human	0.94853867
75	ELK3_25401928_ChIP-Seq_HUVEC_Human	0.93723411
76	ERG_21242973_ChIP-ChIP_JURKAT_Human	0.93410970
77	E2F1_20622854_ChIP-Seq_HELA_Human	0.92739132
78	EZH2_27304074_Chip-Seq_ESCs_Mouse	0.92249647
79	EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse	0.92104023
80	FOXO3_23340844_ChIP-Seq_DLD1_Human	0.91700385
81	RUNX2_24764292_ChIP-Seq_MC3T3_Mouse	0.88909047
82	IKZF1_21737484_ChIP-ChIP_HCT116_Human	0.88015374
83	UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human	0.87618262
84	P53_21459846_ChIP-Seq_SAOS-2_Human	0.87255753
85	BCAT_22108803_ChIP-Seq_LS180_Human	0.87071423
86	BCL6_27268052_Chip-Seq_Bcells_Human	0.87050942
87	THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse	0.86552149
88	KDM2B_26808549_Chip-Seq_SUP-B15_Human	0.85983362
89	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	0.84758641
90	TP53_16413492_ChIP-PET_HCT116_Human	0.84752180
91	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	0.84558333
92	SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse	0.83938155
93	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	0.82348742
94	ATF3_27146783_Chip-Seq_COLON_Human	0.82345229
95	EED_16625203_ChIP-ChIP_MESCs_Mouse	0.81780833
96	TP63_23658742_ChIP-Seq_EP156T_Human	0.81621249
97	SUZ12_18974828_ChIP-Seq_MESCs_Mouse	0.81257303
98	KDM2B_26808549_Chip-Seq_DND41_Human	0.80583467
99	LXR_22158963_ChIP-Seq_LIVER_Mouse	0.80416653
100	JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	0.80133632

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002796_impaired_skin_barrier	6.41239502
2	MP0005275_abnormal_skin_tensile	5.85569217
3	MP0002234_abnormal_pharynx_morphology	4.41906832
4	MP0000467_abnormal_esophagus_morphology	4.41224036
5	MP0000579_abnormal_nail_morphology	3.89421343
6	MP0005501_abnormal_skin_physiology	3.68384443
7	MP0000751_myopathy	3.62342621
8	MP0000762_abnormal_tongue_morphology	3.59272309
9	MP0003646_muscle_fatigue	3.07768593
10	MP0000749_muscle_degeneration	2.87613352
11	MP0010234_abnormal_vibrissa_follicle	2.70557302
12	MP0003705_abnormal_hypodermis_morpholog	2.59025491
13	MP0001243_abnormal_dermal_layer	2.36191875
14	MP0002095_abnormal_skin_pigmentation	2.25753851
15	MP0001879_abnormal_lymphatic_vessel	2.23429148
16	MP0002837_dystrophic_cardiac_calcinosis	2.21067915
17	MP0004145_abnormal_muscle_electrophysio	1.95936200
18	MP0009697_abnormal_copulation	1.92354876
19	MP0000647_abnormal_sebaceous_gland	1.89416826
20	MP0000747_muscle_weakness	1.88649952
21	MP0001216_abnormal_epidermal_layer	1.87748077
22	MP0004185_abnormal_adipocyte_glucose	1.87343402
23	MP0010771_integument_phenotype	1.87099314
24	MP0010368_abnormal_lymphatic_system	1.86026281
25	MP0004947_skin_inflammation	1.76691749
26	MP0004130_abnormal_muscle_cell	1.75341147
27	MP0000759_abnormal_skeletal_muscle	1.75303663
28	MP0000678_abnormal_parathyroid_gland	1.74998545
29	MP0002106_abnormal_muscle_physiology	1.73176250
30	MP0010030_abnormal_orbit_morphology	1.68059262
31	MP0003252_abnormal_bile_duct	1.56410046
32	MP0000383_abnormal_hair_follicle	1.52502574
33	MP0004036_abnormal_muscle_relaxation	1.50629025
34	MP0000733_abnormal_muscle_development	1.50087496
35	MP0003453_abnormal_keratinocyte_physiol	1.49750073
36	MP0000371_diluted_coat_color	1.49105359
37	MP0004087_abnormal_muscle_fiber	1.48281615
38	MP0010678_abnormal_skin_adnexa	1.47235447
39	MP0002060_abnormal_skin_morphology	1.45134931
40	MP0005623_abnormal_meninges_morphology	1.43777341
41	MP0005369_muscle_phenotype	1.39450551
42	MP0005620_abnormal_muscle_contractility	1.34558599
43	MP0000750_abnormal_muscle_regeneration	1.34401493
44	MP0001958_emphysema	1.29091176
45	MP0000427_abnormal_hair_cycle	1.27034201
46	MP0002332_abnormal_exercise_endurance	1.17992550
47	MP0003566_abnormal_cell_adhesion	1.17687992
48	MP0002249_abnormal_larynx_morphology	1.17444668
49	MP0005451_abnormal_body_composition	1.15848712
50	MP0002098_abnormal_vibrissa_morphology	1.15214734
51	MP0000470_abnormal_stomach_morphology	1.10897379
52	MP0003950_abnormal_plasma_membrane	1.08561256
53	MP0002972_abnormal_cardiac_muscle	1.07038163
54	MP0000377_abnormal_hair_follicle	1.04740055
55	MP0005666_abnormal_adipose_tissue	1.04400112
56	MP0002269_muscular_atrophy	1.03991297
57	MP0002254_reproductive_system_inflammat	1.03520790
58	MP0008438_abnormal_cutaneous_collagen	1.02833002
59	MP0001191_abnormal_skin_condition	1.00222246
60	MP0004084_abnormal_cardiac_muscle	0.99522815
61	MP0009931_abnormal_skin_appearance	0.96629175
62	MP0002127_abnormal_cardiovascular_syste	0.95438959
63	MP0000367_abnormal_coat/_hair	0.93724591
64	MP0003191_abnormal_cellular_cholesterol	0.93723492
65	MP0005330_cardiomyopathy	0.93659035
66	MP0003941_abnormal_skin_development	0.90339320
67	MP0000049_abnormal_middle_ear	0.85666536
68	MP0000465_gastrointestinal_hemorrhage	0.85626727
69	MP0006138_congestive_heart_failure	0.76828898
70	MP0002971_abnormal_brown_adipose	0.73621210
71	MP0003755_abnormal_palate_morphology	0.73526735
72	MP0004381_abnormal_hair_follicle	0.72731924
73	MP0001177_atelectasis	0.71441151
74	MP0005375_adipose_tissue_phenotype	0.70982359
75	MP0004270_analgesia	0.70888520
76	MP0004782_abnormal_surfactant_physiolog	0.68224538
77	MP0005266_abnormal_metabolism	0.67623461
78	MP0002075_abnormal_coat/hair_pigmentati	0.65020081
79	MP0005385_cardiovascular_system_phenoty	0.63983977
80	MP0001544_abnormal_cardiovascular_syste	0.63983977
81	MP0005167_abnormal_blood-brain_barrier	0.62265592
82	MP0000343_altered_response_to	0.61233022
83	MP0006036_abnormal_mitochondrial_physio	0.58919440
84	MP0001299_abnormal_eye_distance/	0.58703801
85	MP0002909_abnormal_adrenal_gland	0.58560305
86	MP0000013_abnormal_adipose_tissue	0.57741856
87	MP0001784_abnormal_fluid_regulation	0.57678230
88	MP0010630_abnormal_cardiac_muscle	0.57064713
89	MP0004272_abnormal_basement_membrane	0.56941885
90	MP0004215_abnormal_myocardial_fiber	0.56006209
91	MP0002177_abnormal_outer_ear	0.54066296
92	MP0001186_pigmentation_phenotype	0.53156078
93	MP0004484_altered_response_of	0.50752346
94	MP0002108_abnormal_muscle_morphology	0.49948158
95	MP0005023_abnormal_wound_healing	0.49936931
96	MP0001340_abnormal_eyelid_morphology	0.49901300
97	MP0001851_eye_inflammation	0.49509179
98	MP0005388_respiratory_system_phenotype	0.48751562
99	MP0002133_abnormal_respiratory_system	0.48751562
100	MP0003329_amyloid_beta_deposits	0.47901704

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Distal arthrogryposis (HP:0005684)	6.15007913
2	Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)	5.80069243
3	Muscle fiber inclusion bodies (HP:0100299)	5.78593819
4	Increased IgE level (HP:0003212)	5.59336570
5	Exercise-induced myalgia (HP:0003738)	5.46688058
6	Abnormality of nail color (HP:0100643)	5.32591800
7	Nemaline bodies (HP:0003798)	5.24655783
8	Round ear (HP:0100830)	5.17738388
9	Type 1 muscle fiber predominance (HP:0003803)	4.68575227
10	Ulnar deviation of the wrist (HP:0003049)	4.59798705
11	Increased connective tissue (HP:0009025)	4.53818103
12	Myopathic facies (HP:0002058)	4.23540303
13	Exercise-induced muscle cramps (HP:0003710)	4.22105453
14	Difficulty running (HP:0009046)	4.20631722
15	Absent phalangeal crease (HP:0006109)	4.17494112
16	Right ventricular cardiomyopathy (HP:0011663)	4.17367955
17	Muscle hypertrophy of the lower extremities (HP:0008968)	4.06175095
18	Calcaneovalgus deformity (HP:0001848)	4.02411570
19	Calf muscle hypertrophy (HP:0008981)	3.94510487
20	Muscle fiber splitting (HP:0003555)	3.82817664
21	Hyporeflexia of lower limbs (HP:0002600)	3.82020606
22	Congenital nonbullous ichthyosiform erythroderma (HP:0007479)	3.67087598
23	Congenital ichthyosiform erythroderma (HP:0007431)	3.61732151
24	Myoglobinuria (HP:0002913)	3.57346711
25	Deformed tarsal bones (HP:0008119)	3.53957481
26	Unilateral renal agenesis (HP:0000122)	3.53840349
27	Abnormal finger flexion creases (HP:0006143)	3.42905845
28	Rimmed vacuoles (HP:0003805)	3.41904706
29	Autoimmune thrombocytopenia (HP:0001973)	3.40851225
30	Woolly hair (HP:0002224)	3.37810682
31	Increased variability in muscle fiber diameter (HP:0003557)	3.33393283
32	Distal lower limb muscle weakness (HP:0009053)	3.23069847
33	Thick nail (HP:0001805)	3.22349655
34	Mesangial abnormality (HP:0001966)	3.21480466
35	Abnormality of skeletal muscle fiber size (HP:0012084)	3.21012071
36	Congenital malformation of the right heart (HP:0011723)	3.00064044
37	Double outlet right ventricle (HP:0001719)	3.00064044
38	Distal lower limb amyotrophy (HP:0008944)	2.93565052
39	Autoimmune hemolytic anemia (HP:0001890)	2.90449423
40	Onycholysis (HP:0001806)	2.82716186
41	Corneal erosion (HP:0200020)	2.80109531
42	Paralysis (HP:0003470)	2.79847260
43	Abnormality of the calf musculature (HP:0001430)	2.77753966
44	Abnormality of the parathyroid morphology (HP:0011766)	2.74989319
45	Plantar hyperkeratosis (HP:0007556)	2.72792923
46	EMG: myopathic abnormalities (HP:0003458)	2.71336685
47	Palmoplantar hyperkeratosis (HP:0000972)	2.68829052
48	Hypotrichosis (HP:0001006)	2.68788217
49	Muscle stiffness (HP:0003552)	2.60839042
50	Myotonia (HP:0002486)	2.54096079
51	Areflexia of lower limbs (HP:0002522)	2.52156368
52	Neck muscle weakness (HP:0000467)	2.51616338
53	Abnormality of the aortic arch (HP:0012303)	2.50623546
54	Cholelithiasis (HP:0001081)	2.49123236
55	Hypoplastic left heart (HP:0004383)	2.48137660
56	Palmar hyperkeratosis (HP:0010765)	2.46871549
57	Conjunctival hamartoma (HP:0100780)	2.44157231
58	Palmoplantar keratoderma (HP:0000982)	2.42788340
59	Abnormality of the calcaneus (HP:0008364)	2.42347569
60	Cupped ribs (HP:0000887)	2.40164017
61	Difficulty climbing stairs (HP:0003551)	2.39966642
62	Gangrene (HP:0100758)	2.37900744
63	Hyperthyroidism (HP:0000836)	2.35165418
64	Rhabdomyolysis (HP:0003201)	2.34821210
65	Hyperkalemia (HP:0002153)	2.33295587
66	Follicular hyperkeratosis (HP:0007502)	2.32335095
67	Frequent falls (HP:0002359)	2.30513265
68	Ectropion (HP:0000656)	2.29651830
69	Abnormal gallbladder morphology (HP:0012437)	2.29124521
70	Lower limb amyotrophy (HP:0007210)	2.25095519
71	Facial diplegia (HP:0001349)	2.21724374
72	B lymphocytopenia (HP:0010976)	2.20477997
73	Abnormality of B cell number (HP:0010975)	2.20477997
74	Alopecia of scalp (HP:0002293)	2.18180357
75	Pili torti (HP:0003777)	2.15877877
76	Hypoplastic ischia (HP:0003175)	2.14651163
77	Aplasia/Hypoplasia of the pubic bone (HP:0009104)	2.03749133
78	Fragile nails (HP:0001808)	2.01417761
79	Oral leukoplakia (HP:0002745)	12.9285919
80	Tetany (HP:0001281)	1.99601872
81	Scapular winging (HP:0003691)	1.97530153
82	Ventricular tachycardia (HP:0004756)	1.96919240
83	Pruritus (HP:0000989)	1.93290108
84	Hypoplastic heart (HP:0001961)	1.90114210
85	Abnormality of the ischium (HP:0003174)	1.87787215
86	Seborrheic dermatitis (HP:0001051)	1.85999920
87	Short palpebral fissure (HP:0012745)	1.79406409
88	Amblyopia (HP:0000646)	1.79381461
89	Abnormal blistering of the skin (HP:0008066)	1.69430577
90	Muscular dystrophy (HP:0003560)	1.68970697
91	Milia (HP:0001056)	1.68863940
92	Lack of skin elasticity (HP:0100679)	1.68373883
93	Exotropia (HP:0000577)	1.68057866
94	Ulnar deviation of finger (HP:0009465)	1.68024413
95	Foot dorsiflexor weakness (HP:0009027)	1.67905618
96	Hypohidrosis (HP:0000966)	1.67846948
97	Venous abnormality (HP:0002624)	1.67788003
98	Erythroderma (HP:0001019)	1.67770306
99	Achilles tendon contracture (HP:0001771)	1.67299344
100	Wrist flexion contracture (HP:0001239)	1.66049675

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	PIK3CG	4.75656226
2	OBSCN	3.56792182
3	TRIB3	2.88771859
4	PHKG1	2.85748565
5	PHKG2	2.85748565
6	TIE1	2.49172505
7	MAP2K3	2.18546485
8	NEK1	2.18022535
9	PDK3	2.06917771
10	PDK4	2.06917771
11	TTN	10.3029288
12	DMPK	1.67888825
13	FER	1.67754992
14	MAPKAPK3	1.44676846
15	LRRK2	1.43469309
16	PINK1	1.42052633
17	PDK2	1.38971658
18	MAP3K3	1.24948745
19	NME1	1.15723734
20	PKN2	1.10781591
21	PTK6	1.10279843
22	MAP3K7	1.08499555
23	RIPK1	1.06188722
24	MAPK12	1.02669402
25	TAOK1	1.01580876
26	MAP2K4	1.01512762
27	PDGFRA	0.97673826
28	MAP2K6	0.97360448
29	BCKDK	0.94154404
30	PAK3	0.93564429
31	UHMK1	0.91746422
32	TGFBR2	0.91144331
33	EPHB1	0.89883064
34	ERN1	0.89466796
35	MST1R	0.84865768
36	DDR2	0.83970828
37	MAP3K9	0.79633687
38	FGFR1	0.79323145
39	PAK2	0.78921108
40	PRKD1	0.69264097
41	RPS6KB2	0.62866824
42	PIK3CA	0.62824657
43	EPHB2	0.62671386
44	KSR2	0.61604492
45	CAMK2A	0.60777949
46	PRKCH	0.60676915
47	MAP3K11	0.60060413
48	TRPM7	0.59880263
49	PKN1	0.59878313
50	MET	0.59843652
51	FGFR2	0.59090892
52	MYLK	0.57527708
53	FGR	0.56545483
54	LIMK1	0.54544550
55	EPHA2	0.54286835
56	TGFBR1	0.52142380
57	BMX	0.48885506
58	MAP3K2	0.48540216
59	MAP2K1	0.48512605
60	LATS1	0.47178345
61	MAPK11	0.46353048
62	ERBB3	0.43726676
63	ROCK1	0.42534968
64	LATS2	0.41966636
65	MAP3K1	0.41382792
66	MAP3K6	0.40666158
67	FGFR4	0.39958666
68	CAMK2G	0.39852260
69	PRKG1	0.39040534
70	PAK6	0.37631172
71	MST4	0.36754070
72	SGK1	0.35210873
73	SIK1	0.35030425
74	NTRK2	0.34800435
75	WNK4	0.33010469
76	PRKAA2	0.32511263
77	ADRBK1	0.31776248
78	PAK4	0.31291609
79	PRKACA	0.29547815
80	PTK2	0.28152081
81	MAPKAPK2	0.28044733
82	CSK	0.27285042
83	RET	0.26819904
84	PDPK1	0.26817744
85	ROCK2	0.26803789
86	PRKACB	0.26556596
87	ILK	0.26090118
88	EPHA3	0.23807602
89	GSK3A	0.22781299
90	PTK2B	0.21621017
91	RPS6KA3	0.21146302
92	STK10	0.19858481
93	PDGFRB	0.19301201
94	MARK2	0.19141342
95	KIT	0.18639105
96	FYN	0.18568002
97	WNK1	0.18387693
98	ITK	0.17771952
99	AKT2	0.16703913
100	PRKACG	0.16537792

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Salivary secretion_Homo sapiens_hsa04970	4.25133906
2	Phenylalanine metabolism_Homo sapiens_hsa00360	3.80660223
3	Fat digestion and absorption_Homo sapiens_hsa04975	3.76077066
4	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	3.27549144
5	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	2.71466387
6	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	2.48331967
7	Glycerolipid metabolism_Homo sapiens_hsa00561	2.28567981
8	Histidine metabolism_Homo sapiens_hsa00340	2.21548903
9	Tyrosine metabolism_Homo sapiens_hsa00350	2.16956071
10	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	1.99015450
11	beta-Alanine metabolism_Homo sapiens_hsa00410	1.96418437
12	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.89813873
13	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	1.84059862
14	Fatty acid degradation_Homo sapiens_hsa00071	1.69918670
15	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	1.53061383
16	Cardiac muscle contraction_Homo sapiens_hsa04260	1.51624107
17	Renin secretion_Homo sapiens_hsa04924	1.50869239
18	Alzheimers disease_Homo sapiens_hsa05010	1.43346731
19	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	1.42384263
20	Dilated cardiomyopathy_Homo sapiens_hsa05414	1.42266760
21	Arginine biosynthesis_Homo sapiens_hsa00220	1.37712924
22	Propanoate metabolism_Homo sapiens_hsa00640	1.37358029
23	Chemical carcinogenesis_Homo sapiens_hsa05204	1.33702306
24	Carbon metabolism_Homo sapiens_hsa01200	1.33422063
25	Phototransduction_Homo sapiens_hsa04744	1.24336935
26	Vascular smooth muscle contraction_Homo sapiens_hsa04270	1.22505871
27	Nitrogen metabolism_Homo sapiens_hsa00910	1.19931035
28	Fatty acid elongation_Homo sapiens_hsa00062	1.19376782
29	Parkinsons disease_Homo sapiens_hsa05012	1.17741366
30	Glucagon signaling pathway_Homo sapiens_hsa04922	1.15406142
31	Starch and sucrose metabolism_Homo sapiens_hsa00500	1.10578996
32	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.07561530
33	Fatty acid metabolism_Homo sapiens_hsa01212	1.07335172
34	Oxidative phosphorylation_Homo sapiens_hsa00190	1.06237457
35	Olfactory transduction_Homo sapiens_hsa04740	1.05207986
36	Gastric acid secretion_Homo sapiens_hsa04971	1.05109767
37	GnRH signaling pathway_Homo sapiens_hsa04912	1.04827331
38	Oxytocin signaling pathway_Homo sapiens_hsa04921	1.02799402
39	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	0.95535500
40	Calcium signaling pathway_Homo sapiens_hsa04020	0.86015565
41	Circadian entrainment_Homo sapiens_hsa04713	0.86014195
42	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.85243563
43	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.84656837
44	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.82396613
45	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.82083630
46	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.79943810
47	Butanoate metabolism_Homo sapiens_hsa00650	0.78428167
48	Insulin signaling pathway_Homo sapiens_hsa04910	0.77674196
49	ECM-receptor interaction_Homo sapiens_hsa04512	0.77628178
50	Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750	0.76160707
51	Insulin resistance_Homo sapiens_hsa04931	0.74777140
52	VEGF signaling pathway_Homo sapiens_hsa04370	0.73495528
53	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.72816273
54	Tight junction_Homo sapiens_hsa04530	0.72132742
55	PPAR signaling pathway_Homo sapiens_hsa03320	0.72021474
56	Pertussis_Homo sapiens_hsa05133	0.71348999
57	Focal adhesion_Homo sapiens_hsa04510	0.70340059
58	Pyruvate metabolism_Homo sapiens_hsa00620	0.70227505
59	Tryptophan metabolism_Homo sapiens_hsa00380	0.69045653
60	Long-term potentiation_Homo sapiens_hsa04720	0.68880852
61	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.68585992
62	Melanogenesis_Homo sapiens_hsa04916	0.67177352
63	Caffeine metabolism_Homo sapiens_hsa00232	0.66473928
64	Glioma_Homo sapiens_hsa05214	0.64575872
65	Platelet activation_Homo sapiens_hsa04611	0.63686388
66	Long-term depression_Homo sapiens_hsa04730	0.60091642
67	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	0.59030687
68	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.58159765
69	Central carbon metabolism in cancer_Homo sapiens_hsa05230	0.56469423
70	Arginine and proline metabolism_Homo sapiens_hsa00330	0.55410333
71	Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524	0.55205993
72	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	0.53632543
73	Proteoglycans in cancer_Homo sapiens_hsa05205	0.52533435
74	Adipocytokine signaling pathway_Homo sapiens_hsa04920	0.51701423
75	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.49550276
76	Estrogen signaling pathway_Homo sapiens_hsa04915	0.48433894
77	Amoebiasis_Homo sapiens_hsa05146	0.48074868
78	Bile secretion_Homo sapiens_hsa04976	0.44659785
79	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.44352443
80	Leukocyte transendothelial migration_Homo sapiens_hsa04670	0.43641480
81	Linoleic acid metabolism_Homo sapiens_hsa00591	0.41735507
82	Rap1 signaling pathway_Homo sapiens_hsa04015	0.41417071
83	Gap junction_Homo sapiens_hsa04540	0.41392746
84	Complement and coagulation cascades_Homo sapiens_hsa04610	0.39734849
85	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.38069661
86	Axon guidance_Homo sapiens_hsa04360	0.36539388
87	AMPK signaling pathway_Homo sapiens_hsa04152	0.36325867
88	Serotonergic synapse_Homo sapiens_hsa04726	0.36038580
89	Amphetamine addiction_Homo sapiens_hsa05031	0.34768822
90	Renal cell carcinoma_Homo sapiens_hsa05211	0.34518369
91	Sulfur metabolism_Homo sapiens_hsa00920	0.33499472
92	Huntingtons disease_Homo sapiens_hsa05016	0.32709089
93	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.31744732
94	Adherens junction_Homo sapiens_hsa04520	0.31194171
95	AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933	0.28472758
96	Galactose metabolism_Homo sapiens_hsa00052	0.25909181
97	Dopaminergic synapse_Homo sapiens_hsa04728	0.25426640
98	Ras signaling pathway_Homo sapiens_hsa04014	0.25026055
99	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	0.23760491
100	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.23585351

LCE3A

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

Tissue Expression Export image »

Cell Line Expression Export image »