ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	keratinocyte differentiation (GO:0030216)	7.30113572
2	sarcoplasmic reticulum calcium ion transport (GO:0070296)	6.78559217
3	regulation of keratinocyte differentiation (GO:0045616)	6.34981765
4	establishment of skin barrier (GO:0061436)	6.27456462
5	desmosome organization (GO:0002934)	5.80343104
6	molting cycle (GO:0042303)	5.79436958
7	hair cycle (GO:0042633)	5.79436958
8	response to vitamin A (GO:0033189)	5.72952089
9	regulation of water loss via skin (GO:0033561)	5.49404046
10	regulation of toll-like receptor 4 signaling pathway (GO:0034143)	5.38131244
11	hemidesmosome assembly (GO:0031581)	5.29461617
12	epidermal cell differentiation (GO:0009913)	5.14101135
13	long-chain fatty acid biosynthetic process (GO:0042759)	5.13335581
14	muscle filament sliding (GO:0030049)	4.78115446
15	actin-myosin filament sliding (GO:0033275)	4.78115446
16	regulation of relaxation of muscle (GO:1901077)	4.77533322
17	regulation of skeletal muscle contraction (GO:0014819)	4.76102805
18	regulation of sequestering of triglyceride (GO:0010889)	4.71529456
19	skeletal muscle contraction (GO:0003009)	4.70155153
20	muscle organ morphogenesis (GO:0048644)	4.53519577
21	purine nucleotide salvage (GO:0032261)	4.52644659
22	regulation of secondary heart field cardioblast proliferation (GO:0003266)	4.50765492
23	regulation of cardioblast proliferation (GO:0003264)	4.50765492
24	coronary vasculature morphogenesis (GO:0060977)	4.49901831
25	lymph vessel development (GO:0001945)	4.44184301
26	linoleic acid metabolic process (GO:0043651)	4.37134791
27	bundle of His cell to Purkinje myocyte communication (GO:0086069)	4.34737303
28	epidermis development (GO:0008544)	4.21426711
29	regulation of skeletal muscle cell differentiation (GO:2001014)	4.11976605
30	multicellular organismal water homeostasis (GO:0050891)	4.08406261
31	regulation of epidermal cell differentiation (GO:0045604)	4.04467861
32	outer ear morphogenesis (GO:0042473)	3.96463755
33	innate immune response in mucosa (GO:0002227)	3.92945719
34	tooth mineralization (GO:0034505)	3.89970658
35	actin-mediated cell contraction (GO:0070252)	3.87432758
36	cellular response to retinoic acid (GO:0071300)	3.78008087
37	lipoxygenase pathway (GO:0019372)	3.75100152
38	intermediate filament organization (GO:0045109)	3.51222304
39	regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)	3.47024403
40	cellular response to epidermal growth factor stimulus (GO:0071364)	3.43205204
41	ectoderm development (GO:0007398)	3.40713262
42	tricarboxylic acid cycle (GO:0006099)	3.38981539
43	muscle cell fate commitment (GO:0042693)	3.38214977
44	water homeostasis (GO:0030104)	3.37639672
45	negative regulation of toll-like receptor signaling pathway (GO:0034122)	3.29590043
46	positive regulation of mitochondrial calcium ion concentration (GO:0051561)	3.23401659
47	response to phenylpropanoid (GO:0080184)	3.22029677
48	regulation of acyl-CoA biosynthetic process (GO:0050812)	3.17305319
49	mucosal immune response (GO:0002385)	3.11336117
50	actin filament-based movement (GO:0030048)	3.10324836
51	positive regulation of lipid storage (GO:0010884)	3.09950693
52	positive regulation of myotube differentiation (GO:0010831)	3.09168803
53	plasma membrane repair (GO:0001778)	3.03891594
54	regulation of coenzyme metabolic process (GO:0051196)	3.01679767
55	regulation of cofactor metabolic process (GO:0051193)	3.01679767
56	oxidative phosphorylation (GO:0006119)	3.01110066
57	* keratinization (GO:0031424)	20.9096139
58	regulation of epidermis development (GO:0045682)	2.98232765
59	skin morphogenesis (GO:0043589)	2.97978536
60	negative regulation of thymocyte apoptotic process (GO:0070244)	2.96548427
61	creatine metabolic process (GO:0006600)	2.95736974
62	Peyers patch development (GO:0048541)	2.93859439
63	mucosal-associated lymphoid tissue development (GO:0048537)	2.93859439
64	organ or tissue specific immune response (GO:0002251)	2.92841368
65	cellular response to glucocorticoid stimulus (GO:0071385)	2.92457529
66	embryonic viscerocranium morphogenesis (GO:0048703)	2.91510611
67	NADH metabolic process (GO:0006734)	2.90909703
68	surfactant homeostasis (GO:0043129)	2.90497916
69	regulation of penile erection (GO:0060405)	2.88792828
70	carnitine shuttle (GO:0006853)	2.84718286
71	fatty acid transmembrane transport (GO:1902001)	2.80979857
72	cellular response to corticosteroid stimulus (GO:0071384)	2.80618941
73	histamine secretion (GO:0001821)	2.79212952
74	negative regulation of calcium ion transmembrane transporter activity (GO:1901020)	2.78524376
75	negative regulation of calcium ion transmembrane transport (GO:1903170)	2.78524376
76	myotube differentiation (GO:0014902)	2.77346103
77	striated muscle contraction (GO:0006941)	2.75860315
78	response to epidermal growth factor (GO:0070849)	2.74120927
79	skeletal muscle adaptation (GO:0043501)	2.73963934
80	positive regulation of protein depolymerization (GO:1901881)	2.72716003
81	myofibril assembly (GO:0030239)	2.60516468
82	cranial nerve morphogenesis (GO:0021602)	2.60322834
83	mature B cell differentiation involved in immune response (GO:0002313)	2.59649918
84	cardiolipin metabolic process (GO:0032048)	2.58798466
85	intermediate filament cytoskeleton organization (GO:0045104)	2.58416011
86	fatty acid beta-oxidation (GO:0006635)	2.54348865
87	nucleotide salvage (GO:0043173)	2.54044960
88	intermediate filament-based process (GO:0045103)	2.52591590
89	response to muscle activity (GO:0014850)	2.52256420
90	regulation of sulfur metabolic process (GO:0042762)	2.49872117
91	regulation of fatty acid oxidation (GO:0046320)	2.47568118
92	wound healing (GO:0042060)	2.47446887
93	skeletal muscle fiber development (GO:0048741)	2.45973574
94	adhesion of symbiont to host cell (GO:0044650)	2.44182821
95	virion attachment to host cell (GO:0019062)	2.44182821
96	positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)	2.42713273
97	cell wall macromolecule catabolic process (GO:0016998)	10.9384263
98	cell wall macromolecule metabolic process (GO:0044036)	10.9384263
99	negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	10.5551154
100	peptide cross-linking (GO:0018149)	10.4890005

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	PPARG_19300518_ChIP-PET_3T3-L1_Mouse	5.24665644
2	* ZNF652_21678463_ChIP-ChIP_ZR75-1_Human	4.02946257
3	TRIM28_21343339_ChIP-Seq_HEK293_Human	2.72038445
4	TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse	2.67163905
5	ESR1_21235772_ChIP-Seq_MCF-7_Human	2.63633657
6	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	2.61409423
7	RARG_19884340_ChIP-ChIP_MEFs_Mouse	2.50387386
8	ESR1_17901129_ChIP-ChIP_LIVER_Mouse	2.26333461
9	SMAD4_19686287_ChIP-ChIP_HaCaT_Human	2.12443848
10	ESR2_21235772_ChIP-Seq_MCF-7_Human	2.10613514
11	P63_26484246_Chip-Seq_KERATINOCYTES_Human	2.09528130
12	TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse	2.04646996
13	EGR1_19032775_ChIP-ChIP_M12_Human	2.00807111
14	TP63_17297297_ChIP-ChIP_HaCaT_Human	10.8579685
15	CLOCK_20551151_ChIP-Seq_293T_Human	1.79943721
16	CTCF_27219007_Chip-Seq_Bcells_Human	1.79363815
17	ERG_20517297_ChIP-Seq_VCAP_Human	1.76697525
18	CDX2_19796622_ChIP-Seq_MESCs_Mouse	1.73057782
19	VDR_22108803_ChIP-Seq_LS180_Human	1.66094284
20	SMAD3_18955504_ChIP-ChIP_HaCaT_Human	1.62714463
21	SMAD2_18955504_ChIP-ChIP_HaCaT_Human	1.62714463
22	* CTCF_20526341_ChIP-Seq_ESCs_Human	1.60701435
23	ESR1_20079471_ChIP-ChIP_T-47D_Human	1.56823092
24	RXR_22158963_ChIP-Seq_LIVER_Mouse	1.52282009
25	RACK7_27058665_Chip-Seq_MCF-7_Human	1.51663532
26	BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human	1.50146067
27	PPARA_22158963_ChIP-Seq_LIVER_Mouse	1.42017111
28	CJUN_26792858_Chip-Seq_BT549_Human	1.39973011
29	TFAP2C_20629094_ChIP-Seq_MCF-7_Human	1.39204735
30	GATA6_21074721_ChIP-Seq_CACO-2_Mouse	1.38388729
31	RXR_22108803_ChIP-Seq_LS180_Human	1.38192484
32	PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse	1.34448624
33	SOX2_20726797_ChIP-Seq_SW620_Human	1.31748981
34	KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human	1.31589054
35	ESRRB_18555785_ChIP-Seq_MESCs_Mouse	1.27419702
36	GATA3_24758297_ChIP-Seq_MCF-7_Human	1.27146783
37	ZNF263_19887448_ChIP-Seq_K562_Human	1.26547073
38	GATA6_21074721_ChIP-Seq_CACO-2_Human	1.24915469
39	GATA1_22025678_ChIP-Seq_K562_Human	1.23122902
40	TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	1.20647562
41	SOX9_24532713_ChIP-Seq_HFSC_Mouse	1.18147101
42	BCOR_27268052_Chip-Seq_Bcells_Human	1.17041832
43	NANOG_20526341_ChIP-Seq_ESCs_Human	1.15866802
44	SUZ12_18692474_ChIP-Seq_MEFs_Mouse	1.15681859
45	LXR_22158963_ChIP-Seq_LIVER_Mouse	1.14499496
46	FOXH1_21741376_ChIP-Seq_ESCs_Human	1.11741426
47	TBX20_22080862_ChIP-Seq_HEART_Mouse	1.07689255
48	TBX20_22328084_ChIP-Seq_HEART_Mouse	1.07689255
49	DNAJC2_21179169_ChIP-ChIP_NT2_Human	1.07390984
50	ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human	1.05166441
51	ATF3_27146783_Chip-Seq_COLON_Human	1.03467916
52	AR_21915096_ChIP-Seq_LNCaP-1F5_Human	1.01891914
53	SUZ12_27294783_Chip-Seq_ESCs_Mouse	1.01388893
54	BP1_19119308_ChIP-ChIP_Hs578T_Human	1.00763925
55	TP63_22573176_ChIP-Seq_HFKS_Human	1.00063055
56	ERG_21242973_ChIP-ChIP_JURKAT_Human	0.99166166
57	P68_20966046_ChIP-Seq_HELA_Human	0.96850320
58	FOXO3_23340844_ChIP-Seq_DLD1_Human	0.96097697
59	SA1_27219007_Chip-Seq_ERYTHROID_Human	0.96000954
60	KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human	0.95188539
61	LXR_22292898_ChIP-Seq_THP-1_Human	0.94938461
62	SMAD2/3_21741376_ChIP-Seq_ESCs_Human	0.93976291
63	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	0.93219627
64	RUNX1_27514584_Chip-Seq_MCF-7_Human	0.92737203
65	E2F1_20622854_ChIP-Seq_HELA_Human	0.92560890
66	SMC4_20622854_ChIP-Seq_HELA_Human	0.90465985
67	NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse	0.90227492
68	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	0.90110084
69	CREB1_26743006_Chip-Seq_LNCaP-abl_Human	0.89998996
70	ELK3_25401928_ChIP-Seq_HUVEC_Human	0.89705374
71	OCT1_27270436_Chip-Seq_PROSTATE_Human	0.89376365
72	CSB_26484114_Chip-Seq_FIBROBLAST_Human	0.89053591
73	RAC3_21632823_ChIP-Seq_H3396_Human	0.88917389
74	PPAR_26484153_Chip-Seq_NCI-H1993_Human	0.88508506
75	RNF2_18974828_ChIP-Seq_MESCs_Mouse	0.87063354
76	EZH2_18974828_ChIP-Seq_MESCs_Mouse	0.87063354
77	UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human	0.86761113
78	BCL6_27268052_Chip-Seq_Bcells_Human	0.86657907
79	SUZ12_20075857_ChIP-Seq_MESCs_Mouse	0.86200735
80	KLF5_25053715_ChIP-Seq_YYC3_Human	0.86162090
81	MTF2_20144788_ChIP-Seq_MESCs_Mouse	0.84939122
82	TP63_23658742_ChIP-Seq_EP156T_Human	0.84829560
83	YY1_22570637_ChIP-Seq_MALME-3M_Human	0.84455087
84	RUNX2_24764292_ChIP-Seq_MC3T3_Mouse	0.84288982
85	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	0.84014613
86	JARID2_20075857_ChIP-Seq_MESCs_Mouse	0.83868534
87	EZH2_27294783_Chip-Seq_ESCs_Mouse	0.83772663
88	CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse	0.80557363
89	NR1I2_20693526_ChIP-Seq_LIVER_Mouse	0.79559370
90	CEBPB_22108803_ChIP-Seq_LS180_Human	0.78864279
91	THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse	0.78651404
92	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	0.77605513
93	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	0.77301544
94	ZNF217_24962896_ChIP-Seq_MCF-7_Human	0.75463168
95	SPI1_20517297_ChIP-Seq_HL60_Human	0.75385937
96	CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human	0.75318445
97	JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	0.74760962
98	JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	0.73511401
99	FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human	0.73075253
100	SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse	0.72063893

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002796_impaired_skin_barrier	6.40283578
2	MP0005275_abnormal_skin_tensile	5.41936867
3	MP0000467_abnormal_esophagus_morphology	4.65913080
4	MP0002234_abnormal_pharynx_morphology	4.50460595
5	MP0000579_abnormal_nail_morphology	4.36491998
6	MP0003646_muscle_fatigue	3.97839516
7	MP0005501_abnormal_skin_physiology	3.78800845
8	MP0000762_abnormal_tongue_morphology	3.35838375
9	MP0000751_myopathy	3.08776898
10	MP0010234_abnormal_vibrissa_follicle	2.78351275
11	MP0004185_abnormal_adipocyte_glucose	2.63799012
12	MP0000749_muscle_degeneration	2.62675337
13	MP0003705_abnormal_hypodermis_morpholog	2.50670070
14	MP0004130_abnormal_muscle_cell	2.29783334
15	MP0001216_abnormal_epidermal_layer	2.08091953
16	MP0001243_abnormal_dermal_layer	2.00774292
17	MP0002837_dystrophic_cardiac_calcinosis	1.95874732
18	MP0010771_integument_phenotype	1.93107357
19	MP0000383_abnormal_hair_follicle	1.78472115
20	MP0000747_muscle_weakness	1.77898053
21	MP0005666_abnormal_adipose_tissue	1.76517035
22	MP0009697_abnormal_copulation	1.76320221
23	MP0003453_abnormal_keratinocyte_physiol	1.75502364
24	MP0000759_abnormal_skeletal_muscle	1.73641195
25	MP0004947_skin_inflammation	1.71412661
26	MP0010678_abnormal_skin_adnexa	1.68559268
27	MP0001879_abnormal_lymphatic_vessel	1.67472383
28	MP0002095_abnormal_skin_pigmentation	1.62752255
29	MP0003191_abnormal_cellular_cholesterol	1.58695719
30	MP0004145_abnormal_muscle_electrophysio	1.56195834
31	MP0002106_abnormal_muscle_physiology	1.54939428
32	MP0002971_abnormal_brown_adipose	1.54113820
33	MP0002060_abnormal_skin_morphology	1.53650016
34	MP0000647_abnormal_sebaceous_gland	1.50300974
35	MP0000678_abnormal_parathyroid_gland	1.48349049
36	MP0004087_abnormal_muscle_fiber	1.47661484
37	MP0004036_abnormal_muscle_relaxation	1.46170602
38	MP0002332_abnormal_exercise_endurance	1.45627543
39	MP0003566_abnormal_cell_adhesion	1.41019857
40	MP0000733_abnormal_muscle_development	1.36029450
41	MP0003950_abnormal_plasma_membrane	1.33701644
42	MP0003252_abnormal_bile_duct	1.30124454
43	MP0005620_abnormal_muscle_contractility	1.24920371
44	MP0001958_emphysema	1.24319753
45	MP0002254_reproductive_system_inflammat	1.23807988
46	MP0000371_diluted_coat_color	1.22799179
47	MP0005369_muscle_phenotype	1.20969099
48	MP0000750_abnormal_muscle_regeneration	1.20760515
49	MP0005330_cardiomyopathy	1.20641095
50	MP0002098_abnormal_vibrissa_morphology	1.18564383
51	MP0008438_abnormal_cutaneous_collagen	1.16363546
52	MP0006036_abnormal_mitochondrial_physio	1.16326844
53	MP0000377_abnormal_hair_follicle	1.15152397
54	MP0003941_abnormal_skin_development	1.14551238
55	MP0000427_abnormal_hair_cycle	1.13055399
56	MP0009931_abnormal_skin_appearance	1.09868177
57	MP0005375_adipose_tissue_phenotype	1.06741503
58	MP0001191_abnormal_skin_condition	1.02558061
59	MP0000465_gastrointestinal_hemorrhage	1.02106478
60	MP0002972_abnormal_cardiac_muscle	1.01597223
61	MP0002249_abnormal_larynx_morphology	1.01380596
62	MP0003195_calcinosis	1.01142100
63	MP0008961_abnormal_basal_metabolism	0.99367699
64	MP0000367_abnormal_coat/_hair	0.97973321
65	MP0004381_abnormal_hair_follicle	0.95615355
66	MP0003221_abnormal_cardiomyocyte_apopto	0.95245579
67	MP0004782_abnormal_surfactant_physiolog	0.93495760
68	MP0005409_darkened_coat_color	0.93445853
69	MP0002269_muscular_atrophy	0.92250181
70	MP0000470_abnormal_stomach_morphology	0.88658962
71	MP0005451_abnormal_body_composition	0.82755848
72	MP0000343_altered_response_to	0.81601404
73	MP0004043_abnormal_pH_regulation	0.76594459
74	MP0004084_abnormal_cardiac_muscle	0.75462598
75	MP0005266_abnormal_metabolism	0.71709125
76	MP0005535_abnormal_body_temperature	0.71551102
77	MP0001177_atelectasis	0.70528505
78	MP0005023_abnormal_wound_healing	0.64735825
79	MP0004272_abnormal_basement_membrane	0.64550862
80	MP0001544_abnormal_cardiovascular_syste	0.63711435
81	MP0005385_cardiovascular_system_phenoty	0.63711435
82	MP0002127_abnormal_cardiovascular_syste	0.63101910
83	MP0004270_analgesia	0.61953173
84	MP0002075_abnormal_coat/hair_pigmentati	0.60421934
85	MP0004484_altered_response_of	0.60309435
86	MP0008775_abnormal_heart_ventricle	0.59177937
87	MP0001851_eye_inflammation	0.57948938
88	MP0010368_abnormal_lymphatic_system	0.56298264
89	MP0010630_abnormal_cardiac_muscle	0.56129982
90	MP0000013_abnormal_adipose_tissue	0.55455973
91	MP0006138_congestive_heart_failure	0.53194272
92	MP0003724_increased_susceptibility_to	0.52774057
93	MP0003806_abnormal_nucleotide_metabolis	0.52569749
94	MP0002118_abnormal_lipid_homeostasis	0.50691916
95	MP0005167_abnormal_blood-brain_barrier	0.49400214
96	MP0001784_abnormal_fluid_regulation	0.48150871
97	MP0001186_pigmentation_phenotype	0.45790652
98	MP0002138_abnormal_hepatobiliary_system	0.45557839
99	MP0004215_abnormal_myocardial_fiber	0.42208848
100	MP0002133_abnormal_respiratory_system	0.40983075

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Abnormality of nail color (HP:0100643)	6.77679143
2	Distal arthrogryposis (HP:0005684)	5.63948791
3	Increased IgE level (HP:0003212)	5.49670776
4	Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)	5.45582824
5	Muscle fiber inclusion bodies (HP:0100299)	5.42792835
6	Exercise-induced myalgia (HP:0003738)	5.24399805
7	Nemaline bodies (HP:0003798)	4.95630033
8	Round ear (HP:0100830)	4.81873697
9	Increased connective tissue (HP:0009025)	4.49322657
10	Type 1 muscle fiber predominance (HP:0003803)	4.42139776
11	Thick nail (HP:0001805)	4.38503718
12	Ulnar deviation of the wrist (HP:0003049)	4.15890842
13	Right ventricular cardiomyopathy (HP:0011663)	4.15142735
14	Myoglobinuria (HP:0002913)	4.04964086
15	Exercise-induced muscle cramps (HP:0003710)	3.99608090
16	Difficulty running (HP:0009046)	3.86228723
17	Unilateral renal agenesis (HP:0000122)	3.81405538
18	Hyporeflexia of lower limbs (HP:0002600)	3.79028453
19	Myopathic facies (HP:0002058)	3.78843926
20	Absent phalangeal crease (HP:0006109)	3.78310226
21	Calcaneovalgus deformity (HP:0001848)	3.69203526
22	Muscle hypertrophy of the lower extremities (HP:0008968)	3.64899631
23	Calf muscle hypertrophy (HP:0008981)	3.57279322
24	Muscle fiber splitting (HP:0003555)	3.56277843
25	Congenital ichthyosiform erythroderma (HP:0007431)	3.55320112
26	Congenital nonbullous ichthyosiform erythroderma (HP:0007479)	3.46331654
27	Onycholysis (HP:0001806)	3.40184929
28	Plantar hyperkeratosis (HP:0007556)	3.30075191
29	Woolly hair (HP:0002224)	3.24210993
30	Deformed tarsal bones (HP:0008119)	3.24044274
31	Palmoplantar hyperkeratosis (HP:0000972)	3.21835112
32	Alopecia of scalp (HP:0002293)	3.14901184
33	Rhabdomyolysis (HP:0003201)	3.09611805
34	Abnormal finger flexion creases (HP:0006143)	3.09494618
35	Increased variability in muscle fiber diameter (HP:0003557)	3.05266285
36	Autoimmune thrombocytopenia (HP:0001973)	3.03525128
37	Cupped ribs (HP:0000887)	3.01725372
38	Hypotrichosis (HP:0001006)	3.01216392
39	Palmar hyperkeratosis (HP:0010765)	2.98553057
40	Abnormality of skeletal muscle fiber size (HP:0012084)	2.98122027
41	Double outlet right ventricle (HP:0001719)	2.85551633
42	Congenital malformation of the right heart (HP:0011723)	2.85551633
43	Rimmed vacuoles (HP:0003805)	2.83947864
44	Mesangial abnormality (HP:0001966)	2.80824613
45	Muscle stiffness (HP:0003552)	2.76887003
46	Follicular hyperkeratosis (HP:0007502)	2.75894687
47	Conjunctival hamartoma (HP:0100780)	2.71544704
48	Fragile nails (HP:0001808)	2.71520702
49	Distal lower limb muscle weakness (HP:0009053)	2.69009459
50	Autoimmune hemolytic anemia (HP:0001890)	2.67559710
51	Distal lower limb amyotrophy (HP:0008944)	2.58831224
52	Paralysis (HP:0003470)	2.57325946
53	EMG: myopathic abnormalities (HP:0003458)	2.56117975
54	Palmoplantar keratoderma (HP:0000982)	2.51165539
55	Neck muscle weakness (HP:0000467)	2.49741379
56	Abnormality of the calf musculature (HP:0001430)	2.48221872
57	Pili torti (HP:0003777)	2.44365730
58	Milia (HP:0001056)	2.39913757
59	Frequent falls (HP:0002359)	2.32308579
60	Areflexia of lower limbs (HP:0002522)	2.31939122
61	Abnormality of the aortic arch (HP:0012303)	2.29462338
62	Corneal erosion (HP:0200020)	2.27764572
63	Ectropion (HP:0000656)	2.23950108
64	Abnormality of the calcaneus (HP:0008364)	2.22540568
65	Myotonia (HP:0002486)	2.21983257
66	Difficulty climbing stairs (HP:0003551)	2.16725561
67	Abnormality of the parathyroid morphology (HP:0011766)	2.16065390
68	Gangrene (HP:0100758)	2.14434900
69	Abnormal blistering of the skin (HP:0008066)	2.11472799
70	Cholelithiasis (HP:0001081)	2.11225432
71	Hypoplastic left heart (HP:0004383)	2.05022288
72	Facial diplegia (HP:0001349)	2.04955194
73	Abnormality of the neuromuscular junction (HP:0003398)	2.00342761
74	Fatigable weakness (HP:0003473)	2.00342761
75	Oral leukoplakia (HP:0002745)	12.8646892
76	Scapular winging (HP:0003691)	1.99264644
77	Lower limb amyotrophy (HP:0007210)	1.96302926
78	Nail dystrophy (HP:0008404)	1.95912149
79	Abnormal gallbladder morphology (HP:0012437)	1.92918144
80	Hyperthyroidism (HP:0000836)	1.91925788
81	Erythroderma (HP:0001019)	1.88622110
82	Laryngomalacia (HP:0001601)	1.83728610
83	Pruritus (HP:0000989)	1.80984765
84	Hypohidrosis (HP:0000966)	1.75148482
85	Ventricular tachycardia (HP:0004756)	1.74380405
86	Tetany (HP:0001281)	1.73831602
87	Hyperkalemia (HP:0002153)	1.70619939
88	Hypoplastic ischia (HP:0003175)	1.68874882
89	Sudden death (HP:0001699)	1.68136909
90	B lymphocytopenia (HP:0010976)	1.67843421
91	Abnormality of B cell number (HP:0010975)	1.67843421
92	Achilles tendon contracture (HP:0001771)	1.67329741
93	Lack of skin elasticity (HP:0100679)	1.61200406
94	Spinal rigidity (HP:0003306)	1.60325435
95	Hypergammaglobulinemia (HP:0010702)	1.58168795
96	Foot dorsiflexor weakness (HP:0009027)	1.58006041
97	Abnormality of the Achilles tendon (HP:0005109)	1.57732359
98	Hamartoma of the eye (HP:0010568)	1.57706634
99	Metatarsus adductus (HP:0001840)	1.55055168
100	Mildly elevated creatine phosphokinase (HP:0008180)	1.54656837

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	TTN	9.04712970
2	PIK3CG	4.36435016
3	TRIB3	3.32321043
4	OBSCN	3.23573812
5	PDK4	3.23219238
6	PDK3	3.23219238
7	TIE1	2.58497971
8	PHKG2	2.37200517
9	PHKG1	2.37200517
10	PDK2	2.17406118
11	MAP2K3	2.10208248
12	PINK1	2.03198074
13	FER	1.95692161
14	NEK1	1.94640897
15	ERN1	1.76351020
16	LATS1	1.64266521
17	BCKDK	1.56143528
18	MAPKAPK3	1.47977263
19	MAP3K3	1.43748849
20	TGFBR2	1.33272078
21	STK24	1.31448963
22	LATS2	1.21346526
23	PKN2	1.17548830
24	LRRK2	1.17276777
25	NME1	1.15319184
26	EPHB1	1.13734367
27	RIPK1	1.11238128
28	DMPK	1.10858358
29	EPHB2	1.08364197
30	MST1R	1.07017829
31	TAOK1	1.01833900
32	KSR2	1.01295628
33	PDGFRA	0.95637209
34	EPHA2	0.94974837
35	MAP3K7	0.94251623
36	LIMK1	0.92687073
37	PTK6	0.88650383
38	MAP2K4	0.83410328
39	STK38L	0.79962359
40	MAP2K6	0.78186038
41	MAPK12	0.77617996
42	MAP3K11	0.74101567
43	MAP3K2	0.73175536
44	FGFR4	0.68450920
45	MAP3K9	0.66603095
46	PRKD1	0.66463512
47	PIK3CA	0.65141782
48	MST4	0.62221017
49	MAP2K1	0.61099077
50	PRKCH	0.59647839
51	DDR2	0.59227210
52	MAPK11	0.59200372
53	STK3	0.58999370
54	MAP3K6	0.54426439
55	TRPM7	0.52491050
56	CAMK2A	0.49230763
57	ILK	0.48189312
58	PDPK1	0.47079646
59	BMX	0.46472781
60	PAK6	0.44133156
61	RPS6KB2	0.42510570
62	PAK3	0.42009185
63	EPHA3	0.41791143
64	JAK1	0.41091462
65	MAP3K1	0.40790183
66	TESK1	0.40132128
67	CAMK2G	0.38917328
68	ERBB3	0.38782151
69	FGFR1	0.35346513
70	PDK1	0.33516123
71	FGR	0.32895026
72	CSK	0.32784946
73	MET	0.32372847
74	PLK2	0.32350978
75	SGK1	0.31700928
76	JAK2	0.29330926
77	PRKAA2	0.28215216
78	TYK2	0.26809068
79	FGFR2	0.26655882
80	STK10	0.25438493
81	PKN1	0.24983263
82	ROCK2	0.24121453
83	ABL2	0.24060376
84	TBK1	0.22375710
85	MAPKAPK2	0.22334784
86	FYN	0.21993776
87	RET	0.21581386
88	PRKACA	0.21435410
89	PDGFRB	0.21425508
90	ROCK1	0.21122623
91	BCR	0.20334568
92	KDR	0.20117431
93	PRKACG	0.19962755
94	PAK4	0.19832810
95	GSK3A	0.19781401
96	FGFR3	0.18926135
97	ALK	0.18262135
98	CAMK4	0.17951515
99	AKT2	0.17877293
100	DYRK1B	0.16943613

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	3.92710983
2	Salivary secretion_Homo sapiens_hsa04970	3.65920486
3	Fat digestion and absorption_Homo sapiens_hsa04975	3.31916042
4	Phenylalanine metabolism_Homo sapiens_hsa00360	3.25150760
5	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	2.87842280
6	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	2.58489624
7	Fatty acid elongation_Homo sapiens_hsa00062	2.28831627
8	Fatty acid degradation_Homo sapiens_hsa00071	2.24913319
9	Propanoate metabolism_Homo sapiens_hsa00640	2.03753669
10	Glycerolipid metabolism_Homo sapiens_hsa00561	2.00580867
11	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	1.93416236
12	Histidine metabolism_Homo sapiens_hsa00340	1.92070084
13	beta-Alanine metabolism_Homo sapiens_hsa00410	1.88244370
14	Alzheimers disease_Homo sapiens_hsa05010	1.69292985
15	PPAR signaling pathway_Homo sapiens_hsa03320	1.63891082
16	Tyrosine metabolism_Homo sapiens_hsa00350	1.62362931
17	Parkinsons disease_Homo sapiens_hsa05012	1.62039352
18	Cardiac muscle contraction_Homo sapiens_hsa04260	1.61040162
19	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.59133560
20	Fatty acid metabolism_Homo sapiens_hsa01212	1.59113962
21	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	1.58754728
22	Carbon metabolism_Homo sapiens_hsa01200	1.56423058
23	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.51809113
24	Oxidative phosphorylation_Homo sapiens_hsa00190	1.47017413
25	Caffeine metabolism_Homo sapiens_hsa00232	1.23679611
26	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.23585128
27	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.22490102
28	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	1.21191792
29	Dilated cardiomyopathy_Homo sapiens_hsa05414	1.20984923
30	Pyruvate metabolism_Homo sapiens_hsa00620	1.18467513
31	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	1.14165863
32	Nitrogen metabolism_Homo sapiens_hsa00910	1.10116352
33	Renin secretion_Homo sapiens_hsa04924	1.08806138
34	Arginine biosynthesis_Homo sapiens_hsa00220	1.08038852
35	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	1.06543279
36	Chemical carcinogenesis_Homo sapiens_hsa05204	1.00971844
37	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.99178888
38	GnRH signaling pathway_Homo sapiens_hsa04912	0.97175308
39	Gastric acid secretion_Homo sapiens_hsa04971	0.95935077
40	Glucagon signaling pathway_Homo sapiens_hsa04922	0.95471296
41	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.93914251
42	Adipocytokine signaling pathway_Homo sapiens_hsa04920	0.89032359
43	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.88732716
44	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.86931539
45	Insulin signaling pathway_Homo sapiens_hsa04910	0.85383986
46	Insulin resistance_Homo sapiens_hsa04931	0.83001837
47	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	0.82667776
48	Olfactory transduction_Homo sapiens_hsa04740	0.81300783
49	Huntingtons disease_Homo sapiens_hsa05016	0.79475808
50	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.79086019
51	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.77573892
52	ECM-receptor interaction_Homo sapiens_hsa04512	0.72576529
53	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.72538193
54	VEGF signaling pathway_Homo sapiens_hsa04370	0.71534447
55	Pertussis_Homo sapiens_hsa05133	0.71216832
56	Phototransduction_Homo sapiens_hsa04744	0.69592022
57	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	0.66564610
58	Butanoate metabolism_Homo sapiens_hsa00650	0.65429530
59	Sulfur metabolism_Homo sapiens_hsa00920	0.64495219
60	Tight junction_Homo sapiens_hsa04530	0.64163022
61	Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750	0.62791398
62	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.62781522
63	Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923	0.62147239
64	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.59717792
65	Central carbon metabolism in cancer_Homo sapiens_hsa05230	0.59130570
66	Melanogenesis_Homo sapiens_hsa04916	0.58377311
67	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.56370849
68	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.55219431
69	AMPK signaling pathway_Homo sapiens_hsa04152	0.54908950
70	Calcium signaling pathway_Homo sapiens_hsa04020	0.54824520
71	Platelet activation_Homo sapiens_hsa04611	0.54397086
72	Linoleic acid metabolism_Homo sapiens_hsa00591	0.53566252
73	Glioma_Homo sapiens_hsa05214	0.53055306
74	Focal adhesion_Homo sapiens_hsa04510	0.52147534
75	Circadian entrainment_Homo sapiens_hsa04713	0.51125718
76	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.50797916
77	Tryptophan metabolism_Homo sapiens_hsa00380	0.49434002
78	Long-term depression_Homo sapiens_hsa04730	0.49009772
79	Long-term potentiation_Homo sapiens_hsa04720	0.48759973
80	Amoebiasis_Homo sapiens_hsa05146	0.47234412
81	Bile secretion_Homo sapiens_hsa04976	0.45196479
82	Proteoglycans in cancer_Homo sapiens_hsa05205	0.44336496
83	Estrogen signaling pathway_Homo sapiens_hsa04915	0.42141464
84	Peroxisome_Homo sapiens_hsa04146	0.40705885
85	Arginine and proline metabolism_Homo sapiens_hsa00330	0.37308971
86	Longevity regulating pathway - multiple species_Homo sapiens_hsa04213	0.34833656
87	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	0.32716542
88	Leukocyte transendothelial migration_Homo sapiens_hsa04670	0.31713884
89	AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933	0.30886332
90	Rap1 signaling pathway_Homo sapiens_hsa04015	0.28739326
91	Gap junction_Homo sapiens_hsa04540	0.27485949
92	Renal cell carcinoma_Homo sapiens_hsa05211	0.25809829
93	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	0.24926959
94	Longevity regulating pathway - mammal_Homo sapiens_hsa04211	0.24289377
95	Staphylococcus aureus infection_Homo sapiens_hsa05150	0.23606174
96	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.22754156
97	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.22020719
98	HIF-1 signaling pathway_Homo sapiens_hsa04066	0.21834930
99	Complement and coagulation cascades_Homo sapiens_hsa04610	0.21010558
100	Tuberculosis_Homo sapiens_hsa05152	0.18028756

LCE3B

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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