ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	exogenous drug catabolic process (GO:0042738)	6.52436949
2	drug catabolic process (GO:0042737)	6.44048451
3	epoxygenase P450 pathway (GO:0019373)	6.06041547
4	glyoxylate metabolic process (GO:0046487)	5.53687118
5	omega-hydroxylase P450 pathway (GO:0097267)	5.38705801
6	erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)	4.86960292
7	L-phenylalanine catabolic process (GO:0006559)	4.86960292
8	cellular glucuronidation (GO:0052695)	4.81890341
9	uronic acid metabolic process (GO:0006063)	4.77067204
10	glucuronate metabolic process (GO:0019585)	4.77067204
11	drug metabolic process (GO:0017144)	4.76212924
12	aromatic amino acid family catabolic process (GO:0009074)	4.60029025
13	cellular ketone body metabolic process (GO:0046950)	4.48449368
14	S-adenosylmethionine metabolic process (GO:0046500)	4.48319254
15	oxidative demethylation (GO:0070989)	4.46893952
16	regulation of protein activation cascade (GO:2000257)	4.42100201
17	ethanol oxidation (GO:0006069)	4.37185189
18	tryptophan catabolic process (GO:0006569)	4.36090122
19	indole-containing compound catabolic process (GO:0042436)	4.36090122
20	indolalkylamine catabolic process (GO:0046218)	4.36090122
21	amino-acid betaine metabolic process (GO:0006577)	4.27649832
22	regulation of complement activation (GO:0030449)	4.17922450
23	complement activation, alternative pathway (GO:0006957)	4.17853213
24	response to mercury ion (GO:0046689)	4.17811175
25	bile acid biosynthetic process (GO:0006699)	4.13621141
26	flavonoid metabolic process (GO:0009812)	4.13136973
27	erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)	4.10254833
28	L-phenylalanine metabolic process (GO:0006558)	4.10254833
29	phenylpropanoid metabolic process (GO:0009698)	4.01846219
30	ketone body metabolic process (GO:1902224)	3.95939682
31	xenobiotic catabolic process (GO:0042178)	3.90399746
32	regulation of triglyceride catabolic process (GO:0010896)	3.89827655
33	negative regulation of sterol transport (GO:0032372)	3.87967927
34	negative regulation of cholesterol transport (GO:0032375)	3.87967927
35	alkaloid metabolic process (GO:0009820)	3.83993749
36	tryptophan metabolic process (GO:0006568)	3.82264894
37	bile acid metabolic process (GO:0008206)	3.80046753
38	bile acid and bile salt transport (GO:0015721)	3.74362061
39	urate metabolic process (GO:0046415)	3.72006620
40	high-density lipoprotein particle remodeling (GO:0034375)	3.69359884
41	serine family amino acid catabolic process (GO:0009071)	3.61761409
42	regulation of fibrinolysis (GO:0051917)	3.58432239
43	ethanol metabolic process (GO:0006067)	3.54000677
44	kynurenine metabolic process (GO:0070189)	3.50347750
45	indolalkylamine metabolic process (GO:0006586)	3.47293125
46	triglyceride-rich lipoprotein particle remodeling (GO:0034370)	3.46944846
47	arginine metabolic process (GO:0006525)	3.43721906
48	aminoglycoside antibiotic metabolic process (GO:0030647)	3.43144301
49	negative regulation of protein activation cascade (GO:2000258)	3.39370331
50	reverse cholesterol transport (GO:0043691)	3.36645459
51	water-soluble vitamin biosynthetic process (GO:0042364)	3.34683879
52	heme transport (GO:0015886)	3.27926430
53	triglyceride homeostasis (GO:0070328)	3.27558614
54	acylglycerol homeostasis (GO:0055090)	3.27558614
55	blood coagulation, intrinsic pathway (GO:0007597)	3.23636513
56	negative regulation of fibrinolysis (GO:0051918)	3.23517412
57	aromatic amino acid family metabolic process (GO:0009072)	3.22322666
58	plasma lipoprotein particle remodeling (GO:0034369)	3.21882787
59	protein-lipid complex remodeling (GO:0034368)	3.21882787
60	macromolecular complex remodeling (GO:0034367)	3.21882787
61	sodium-independent organic anion transport (GO:0043252)	3.19955546
62	aldehyde catabolic process (GO:0046185)	3.16172680
63	phospholipid homeostasis (GO:0055091)	3.15723198
64	benzene-containing compound metabolic process (GO:0042537)	3.15648446
65	excretion (GO:0007588)	3.14189996
66	alpha-amino acid catabolic process (GO:1901606)	3.12375822
67	drug transmembrane transport (GO:0006855)	3.12353647
68	L-methionine salvage (GO:0071267)	3.10599506
69	L-methionine biosynthetic process (GO:0071265)	3.10599506
70	amino acid salvage (GO:0043102)	3.10599506
71	intestinal cholesterol absorption (GO:0030299)	3.10211710
72	glycine metabolic process (GO:0006544)	3.09349838
73	xenobiotic metabolic process (GO:0006805)	3.03367491
74	response to nitrosative stress (GO:0051409)	3.02839798
75	cholesterol efflux (GO:0033344)	3.02004009
76	phospholipid efflux (GO:0033700)	2.98500747
77	regulation of cholesterol esterification (GO:0010872)	2.98265791
78	cellular biogenic amine catabolic process (GO:0042402)	2.97536401
79	amine catabolic process (GO:0009310)	2.97536401
80	tyrosine metabolic process (GO:0006570)	2.93088330
81	very-low-density lipoprotein particle assembly (GO:0034379)	2.90772859
82	vitamin biosynthetic process (GO:0009110)	2.88150439
83	protein carboxylation (GO:0018214)	2.83407849
84	peptidyl-glutamic acid carboxylation (GO:0017187)	2.83407849
85	branched-chain amino acid catabolic process (GO:0009083)	2.82308447
86	negative regulation of complement activation (GO:0045916)	2.80751653
87	drug transport (GO:0015893)	2.80220567
88	cellular amino acid catabolic process (GO:0009063)	2.79394163
89	monocarboxylic acid catabolic process (GO:0072329)	2.79174077
90	cytolysis (GO:0019835)	2.78265965
91	dopamine transport (GO:0015872)	2.77865077
92	quinone biosynthetic process (GO:1901663)	2.76970677
93	quinone metabolic process (GO:1901661)	2.74123826
94	platelet dense granule organization (GO:0060155)	2.73393056
95	quaternary ammonium group transport (GO:0015697)	2.70726490
96	fibrinolysis (GO:0042730)	2.69946713
97	hormone catabolic process (GO:0042447)	2.69340076
98	protein activation cascade (GO:0072376)	2.68898829
99	arginine catabolic process (GO:0006527)	2.68388785
100	positive regulation of heterotypic cell-cell adhesion (GO:0034116)	2.67701726

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	EGR1_23403033_ChIP-Seq_LIVER_Mouse	3.18029902
2	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.85371389
3	ESR1_17901129_ChIP-ChIP_LIVER_Mouse	2.81428751
4	ZNF274_21170338_ChIP-Seq_K562_Hela	2.75952906
5	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.67939020
6	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.59638448
7	VDR_22108803_ChIP-Seq_LS180_Human	2.45330809
8	GBX2_23144817_ChIP-Seq_PC3_Human	2.33275665
9	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.30042948
10	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.27682055
11	IGF1R_20145208_ChIP-Seq_DFB_Human	2.07870507
12	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	2.05088781
13	FUS_26573619_Chip-Seq_HEK293_Human	1.98550919
14	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.89006885
15	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.88050945
16	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.87504149
17	P300_19829295_ChIP-Seq_ESCs_Human	1.86173769
18	LXR_22158963_ChIP-Seq_LIVER_Mouse	1.85962285
19	TAF15_26573619_Chip-Seq_HEK293_Human	1.85394559
20	ER_23166858_ChIP-Seq_MCF-7_Human	1.84437081
21	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.83208757
22	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.81159279
23	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.77165492
24	BCAT_22108803_ChIP-Seq_LS180_Human	1.72633033
25	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.72467073
26	RXR_22158963_ChIP-Seq_LIVER_Mouse	1.70838864
27	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.68338038
28	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.63851228
29	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.60404253
30	CDX2_19796622_ChIP-Seq_MESCs_Mouse	1.58087273
31	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.56207513
32	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.55494433
33	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	1.55273295
34	NANOG_19829295_ChIP-Seq_ESCs_Human	1.54289708
35	SOX2_19829295_ChIP-Seq_ESCs_Human	1.54289708
36	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.53434221
37	CBP_20019798_ChIP-Seq_JUKART_Human	1.50801948
38	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.50801948
39	HNF4A_19761587_ChIP-ChIP_CACO-2_Human	1.49167191
40	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.47511714
41	IRF1_19129219_ChIP-ChIP_H3396_Human	1.45029651
42	EWS_26573619_Chip-Seq_HEK293_Human	1.44059984
43	* CDX2_22108803_ChIP-Seq_LS180_Human	1.42990727
44	PPARA_22158963_ChIP-Seq_LIVER_Mouse	1.42705795
45	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.41760856
46	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.37946844
47	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.36967440
48	TCF4_22108803_ChIP-Seq_LS180_Human	1.36011342
49	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.35751545
50	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.35376154
51	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.35350789
52	STAT3_23295773_ChIP-Seq_U87_Human	1.34651403
53	AR_20517297_ChIP-Seq_VCAP_Human	1.33070036
54	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.32169196
55	SMAD4_21799915_ChIP-Seq_A2780_Human	1.32013134
56	FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.31716903
57	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.29883382
58	AR_25329375_ChIP-Seq_VCAP_Human	1.29580002
59	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.27135942
60	HTT_18923047_ChIP-ChIP_STHdh_Human	1.26652817
61	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.26609964
62	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.25597745
63	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.24057963
64	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.23873713
65	IRF8_22096565_ChIP-ChIP_GC-B_Human	1.23338768
66	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.22747119
67	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.21735687
68	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.21188697
69	TCF4_23295773_ChIP-Seq_U87_Human	1.21096640
70	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.21036135
71	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.20367814
72	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.20367814
73	P53_22387025_ChIP-Seq_ESCs_Mouse	1.19864530
74	AR_21915096_ChIP-Seq_LNCaP-1F5_Human	1.19519937
75	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.19402168
76	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.18996205
77	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.18872700
78	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.18572586
79	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.18395701
80	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.17671679
81	STAT3_18555785_Chip-Seq_ESCs_Mouse	1.14755503
82	NR1I2_20693526_ChIP-Seq_LIVER_Mouse	1.14360576
83	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.14138099
84	IRF1_21803131_ChIP-Seq_MONOCYTES_Human	1.13005275
85	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.12495839
86	RUNX2_22187159_ChIP-Seq_PCA_Human	1.11244544
87	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.09655056
88	E2F1_18555785_Chip-Seq_ESCs_Mouse	1.09352007
89	SUZ12_18555785_Chip-Seq_ESCs_Mouse	1.09070917
90	OCT4_18555785_Chip-Seq_ESCs_Mouse	1.07701857
91	OCT4_21477851_ChIP-Seq_ESCs_Mouse	1.07325945
92	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	1.06942012
93	TP53_22573176_ChIP-Seq_HFKS_Human	1.05585457
94	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.05223851
95	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.05075713
96	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.04515648
97	FOXO1_23066095_ChIP-Seq_LIVER_Mouse	1.03890331
98	P300_18555785_Chip-Seq_ESCs_Mouse	1.03782090
99	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	1.02926134
100	EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse	1.00661376

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003195_calcinosis	6.06256775
2	MP0002139_abnormal_hepatobiliary_system	5.31417577
3	MP0005085_abnormal_gallbladder_physiolo	4.42138335
4	MP0005365_abnormal_bile_salt	4.30255727
5	MP0008875_abnormal_xenobiotic_pharmacok	3.80371689
6	MP0005360_urolithiasis	3.72031503
7	MP0004043_abnormal_pH_regulation	3.58673079
8	MP0002138_abnormal_hepatobiliary_system	3.50097990
9	MP0003252_abnormal_bile_duct	3.23439140
10	MP0005332_abnormal_amino_acid	2.50889446
11	MP0002876_abnormal_thyroid_physiology	2.43459233
12	MP0001666_abnormal_nutrient_absorption	2.40121982
13	MP0010329_abnormal_lipoprotein_level	2.38048724
14	MP0004019_abnormal_vitamin_homeostasis	2.26646748
15	MP0003011_delayed_dark_adaptation	2.24184393
16	MP0003646_muscle_fatigue	1.98531000
17	MP0001764_abnormal_homeostasis	1.96482124
18	MP0001756_abnormal_urination	1.81919160
19	MP0009643_abnormal_urine_homeostasis	1.74471711
20	MP0005551_abnormal_eye_electrophysiolog	1.73576369
21	MP0005636_abnormal_mineral_homeostasis	1.69734439
22	MP0002638_abnormal_pupillary_reflex	1.61820189
23	MP0008872_abnormal_physiological_respon	1.61169684
24	MP0003136_yellow_coat_color	1.61001334
25	MP0005084_abnormal_gallbladder_morpholo	1.57072791
26	MP0003868_abnormal_feces_composition	1.47223162
27	MP0004147_increased_porphyrin_level	1.42146701
28	MP0009697_abnormal_copulation	1.40979514
29	MP0002118_abnormal_lipid_homeostasis	1.36180437
30	MP0005670_abnormal_white_adipose	1.34015485
31	MP0005253_abnormal_eye_physiology	1.28569656
32	MP0002928_abnormal_bile_duct	1.26904362
33	MP0000372_irregular_coat_pigmentation	1.26220232
34	MP0005646_abnormal_pituitary_gland	1.23521666
35	MP0001765_abnormal_ion_homeostasis	1.21699698
36	MP0003806_abnormal_nucleotide_metabolis	1.19599168
37	MP0002132_abnormal_respiratory_system	1.17934975
38	MP0004142_abnormal_muscle_tone	1.15962428
39	MP0002136_abnormal_kidney_physiology	1.08976499
40	MP0006036_abnormal_mitochondrial_physio	1.08275921
41	MP0010386_abnormal_urinary_bladder	1.04384256
42	MP0000609_abnormal_liver_physiology	1.03714115
43	MP0005174_abnormal_tail_pigmentation	0.99894421
44	MP0006072_abnormal_retinal_apoptosis	0.93838666
45	MP0002938_white_spotting	0.91894833
46	MP0005319_abnormal_enzyme/_coenzyme	0.90346509
47	MP0001485_abnormal_pinna_reflex	0.90180273
48	MP0002277_abnormal_respiratory_mucosa	0.89321343
49	MP0005379_endocrine/exocrine_gland_phen	0.89305621
50	MP0003186_abnormal_redox_activity	0.88423043
51	MP0002168_other_aberrant_phenotype	0.87433924
52	MP0005395_other_phenotype	0.87251084
53	MP0000427_abnormal_hair_cycle	0.87114622
54	MP0003718_maternal_effect	0.86705348
55	MP0005408_hypopigmentation	0.86687799
56	MP0002837_dystrophic_cardiac_calcinosis	0.86661649
57	MP0000230_abnormal_systemic_arterial	0.86040822
58	MP0001986_abnormal_taste_sensitivity	0.83995056
59	MP0004215_abnormal_myocardial_fiber	0.83224324
60	MP0006292_abnormal_olfactory_placode	0.83189467
61	MP0003878_abnormal_ear_physiology	0.83034756
62	MP0005377_hearing/vestibular/ear_phenot	0.83034756
63	MP0001324_abnormal_eye_pigmentation	0.82511258
64	MP0002078_abnormal_glucose_homeostasis	0.80535065
65	MP0005220_abnormal_exocrine_pancreas	0.80393996
66	MP0003183_abnormal_peptide_metabolism	0.80341225
67	MP0004264_abnormal_extraembryonic_tissu	0.79650654
68	MP0009642_abnormal_blood_homeostasis	0.79090378
69	MP0005083_abnormal_biliary_tract	0.78712769
70	MP0004885_abnormal_endolymph	0.78231370
71	MP0005376_homeostasis/metabolism_phenot	0.75043315
72	MP0005410_abnormal_fertilization	0.74341985
73	MP0008877_abnormal_DNA_methylation	0.74071237
74	MP0004145_abnormal_muscle_electrophysio	0.73495548
75	MP0005535_abnormal_body_temperature	0.71803680
76	MP0002102_abnormal_ear_morphology	0.71029531
77	MP0005448_abnormal_energy_balance	0.70525020
78	MP0002909_abnormal_adrenal_gland	0.65910253
79	MP0005187_abnormal_penis_morphology	0.65113746
80	MP0001984_abnormal_olfaction	0.64851580
81	MP0000566_synostosis	0.63916746
82	MP0003953_abnormal_hormone_level	0.63066066
83	MP0003787_abnormal_imprinting	0.62713225
84	MP0000538_abnormal_urinary_bladder	0.62514413
85	MP0005195_abnormal_posterior_eye	0.60622154
86	MP0000569_abnormal_digit_pigmentation	0.60530521
87	MP0002971_abnormal_brown_adipose	0.60433367
88	MP0002163_abnormal_gland_morphology	0.60069244
89	MP0005584_abnormal_enzyme/coenzyme_acti	0.59127126
90	MP0003638_abnormal_response/metabolism_	0.59055125
91	MP0005075_abnormal_melanosome_morpholog	0.58845001
92	MP0000631_abnormal_neuroendocrine_gland	0.58682460
93	MP0002254_reproductive_system_inflammat	0.57590269
94	MP0002090_abnormal_vision	0.57527471
95	MP0009840_abnormal_foam_cell	0.56998827
96	MP0008961_abnormal_basal_metabolism	0.56041693
97	MP0000383_abnormal_hair_follicle	0.55604704
98	MP0005645_abnormal_hypothalamus_physiol	0.53991042
99	MP0003943_abnormal_hepatobiliary_system	0.53713280
100	MP0005266_abnormal_metabolism	0.53452592

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Increased circulating renin level (HP:0000848)	5.08504734
2	Metabolic alkalosis (HP:0200114)	5.08286290
3	Hypomagnesemia (HP:0002917)	4.66236601
4	Hypokalemic alkalosis (HP:0001949)	4.37445745
5	Hyperactive renin-angiotensin system (HP:0000841)	4.36895389
6	Hypobetalipoproteinemia (HP:0003563)	3.95242857
7	Polyuria (HP:0000103)	3.80234208
8	Prolonged partial thromboplastin time (HP:0003645)	3.75264885
9	Abnormality of magnesium homeostasis (HP:0004921)	3.60818775
10	Abnormality of monocarboxylic acid metabolism (HP:0010996)	3.55191167
11	Abnormal urine output (HP:0012590)	3.53927083
12	Complement deficiency (HP:0004431)	3.49485104
13	Generalized aminoaciduria (HP:0002909)	3.46728885
14	Abnormality of chloride homeostasis (HP:0011422)	3.45273769
15	Alkalosis (HP:0001948)	3.45224468
16	Polydipsia (HP:0001959)	3.44849416
17	Abnormal drinking behavior (HP:0030082)	3.44849416
18	Hyperaldosteronism (HP:0000859)	3.40173416
19	Hyperglycinuria (HP:0003108)	3.39775643
20	Hyperglycinemia (HP:0002154)	3.34454396
21	Abnormality of renin-angiotensin system (HP:0000847)	3.31703244
22	Abnormality of aromatic amino acid family metabolism (HP:0004338)	3.28719683
23	Abnormality of renal excretion (HP:0011036)	3.25370083
24	Tetany (HP:0001281)	3.23683102
25	Abnormality of glycine metabolism (HP:0010895)	3.23532937
26	Abnormality of serine family amino acid metabolism (HP:0010894)	3.23532937
27	Glycosuria (HP:0003076)	3.20159869
28	Abnormality of urine glucose concentration (HP:0011016)	3.20159869
29	Abnormality of the renal cortex (HP:0011035)	3.15729881
30	Renal salt wasting (HP:0000127)	3.13380807
31	Pancreatic cysts (HP:0001737)	3.04772776
32	Hypothermia (HP:0002045)	3.03481350
33	Conjugated hyperbilirubinemia (HP:0002908)	3.00005489
34	Hypokalemia (HP:0002900)	2.94699037
35	Proximal tubulopathy (HP:0000114)	2.92667533
36	Abnormality of glutamine family amino acid metabolism (HP:0010902)	2.73792212
37	Spontaneous abortion (HP:0005268)	2.68400038
38	Abnormality of the renal medulla (HP:0100957)	2.67987561
39	Deep venous thrombosis (HP:0002625)	2.63218142
40	Recurrent gram-negative bacterial infections (HP:0005420)	2.61613049
41	Tubular atrophy (HP:0000092)	2.59038688
42	Hyperlipoproteinemia (HP:0010980)	2.58969220
43	Gout (HP:0001997)	2.52436315
44	Hyperphosphaturia (HP:0003109)	2.51497567
45	Ketosis (HP:0001946)	2.49219499
46	Bile duct proliferation (HP:0001408)	2.47403046
47	Abnormal biliary tract physiology (HP:0012439)	2.47403046
48	Facial shape deformation (HP:0011334)	2.46765161
49	Potter facies (HP:0002009)	2.46765161
50	Epidermoid cyst (HP:0200040)	2.46211104
51	Abnormality of aspartate family amino acid metabolism (HP:0010899)	2.43688108
52	Renal cortical cysts (HP:0000803)	2.42724436
53	Ketoacidosis (HP:0001993)	2.39518029
54	Abnormality of potassium homeostasis (HP:0011042)	2.36618462
55	Abnormality of vitamin metabolism (HP:0100508)	2.34019742
56	Joint hemorrhage (HP:0005261)	2.31644620
57	Nephronophthisis (HP:0000090)	2.29894469
58	Chronic hepatic failure (HP:0100626)	2.28908644
59	3-Methylglutaconic aciduria (HP:0003535)	2.27542412
60	Hypolipoproteinemia (HP:0010981)	2.26478349
61	Xanthomatosis (HP:0000991)	2.22638986
62	Acute encephalopathy (HP:0006846)	2.22118891
63	True hermaphroditism (HP:0010459)	2.21872700
64	Pancreatic fibrosis (HP:0100732)	2.21277783
65	Intrahepatic cholestasis (HP:0001406)	2.21044224
66	Congenital stationary night blindness (HP:0007642)	2.18586677
67	Abnormality of vitamin B metabolism (HP:0004340)	2.17665423
68	Abnormality of midbrain morphology (HP:0002418)	2.17106359
69	Molar tooth sign on MRI (HP:0002419)	2.17106359
70	Abnormality of serum amino acid levels (HP:0003112)	2.15815565
71	Abnormality of methionine metabolism (HP:0010901)	2.14528876
72	Abnormality of purine metabolism (HP:0004352)	2.14133466
73	Abnormality of the vitamin B12 metabolism (HP:0004341)	2.13870352
74	Lethargy (HP:0001254)	2.12550087
75	Abnormality of the level of lipoprotein cholesterol (HP:0010979)	2.11975626
76	Abnormality of complement system (HP:0005339)	2.11812385
77	Hyperammonemia (HP:0001987)	2.11234258
78	Enlarged kidneys (HP:0000105)	2.07116886
79	Fat malabsorption (HP:0002630)	2.04722353
80	Abnormality of fatty-acid metabolism (HP:0004359)	2.02992278
81	Abnormality of nucleobase metabolism (HP:0010932)	2.02248556
82	Metabolic acidosis (HP:0001942)	2.02185160
83	Methylmalonic acidemia (HP:0002912)	2.02180104
84	Hypoglycemic coma (HP:0001325)	1.98636958
85	Attenuation of retinal blood vessels (HP:0007843)	1.97940215
86	Abnormality of the common coagulation pathway (HP:0010990)	1.96270597
87	Hydroxyprolinuria (HP:0003080)	1.94950146
88	Abnormality of proline metabolism (HP:0010907)	1.94950146
89	Nephrogenic diabetes insipidus (HP:0009806)	1.94937900
90	Medial flaring of the eyebrow (HP:0010747)	1.93407080
91	Glomerulonephritis (HP:0000099)	1.91192042
92	Cerebral edema (HP:0002181)	1.91113459
93	Abnormal urine phosphate concentration (HP:0012599)	1.87971473
94	Fair hair (HP:0002286)	1.85794538
95	Abolished electroretinogram (ERG) (HP:0000550)	1.85384787
96	Acute necrotizing encephalopathy (HP:0006965)	1.82024210
97	Delayed CNS myelination (HP:0002188)	1.81730411
98	Decreased circulating renin level (HP:0003351)	1.81348034
99	Hyperuricemia (HP:0002149)	1.79163340
100	Increased purine levels (HP:0004368)	1.79163340

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	WNK3	5.97633844
2	FRK	4.77177709
3	TAOK3	4.41902214
4	OXSR1	4.15254668
5	ACVR1B	2.85530201
6	WNK4	2.48561932
7	STK39	2.40615719
8	NUAK1	2.08982573
9	MAP4K2	2.05467212
10	GRK1	1.92907496
11	ADRBK2	1.91052386
12	BMPR1B	1.86652823
13	PINK1	1.76914149
14	CAMKK2	1.76358565
15	MST4	1.65384511
16	MAP3K12	1.47121977
17	PIK3CG	1.44822575
18	FGFR2	1.39910398
19	BRSK2	1.37889978
20	OBSCN	1.35152846
21	EPHA3	1.32175755
22	SGK2	1.25467958
23	INSRR	1.22469977
24	MAPK13	1.14964085
25	PDK2	1.10963974
26	TNIK	1.07875636
27	BCKDK	1.06560946
28	PIK3CA	1.05503732
29	PRKAA2	1.02830976
30	NLK	1.01474998
31	PAK3	0.99786243
32	MUSK	0.97970645
33	STK38L	0.97066062
34	MAP3K4	0.96972262
35	EIF2AK3	0.96754443
36	ZAK	0.93119500
37	AKT3	0.92755843
38	SGK494	0.92201467
39	SGK223	0.92201467
40	PHKG1	0.88822555
41	PHKG2	0.88822555
42	CASK	0.86782746
43	ADRBK1	0.86300727
44	LATS1	0.82479729
45	TNK2	0.80261975
46	TXK	0.79948361
47	DAPK2	0.78244445
48	STK16	0.75925780
49	DYRK2	0.73498838
50	BCR	0.72247562
51	PRKCE	0.71336942
52	MAP2K4	0.68825553
53	NME1	0.66188824
54	ERBB3	0.65810301
55	PRKCG	0.65612679
56	IRAK1	0.65314783
57	FGFR3	0.63158110
58	FER	0.60398129
59	MAP3K2	0.60300279
60	PRKCQ	0.59373089
61	TLK1	0.55137283
62	GRK7	0.54911137
63	MKNK1	0.54878781
64	PASK	0.53847484
65	SGK3	0.53444429
66	TEC	0.53079409
67	PRKACA	0.52761415
68	PBK	0.51231181
69	MAP2K7	0.50873968
70	PRKACG	0.50501293
71	MAP3K7	0.49508165
72	NTRK3	0.48333151
73	PRKAA1	0.47568826
74	SRPK1	0.46881377
75	MKNK2	0.46411820
76	CDK8	0.45956848
77	PRKG1	0.45239306
78	ERBB2	0.45159875
79	CSNK1A1	0.42432640
80	KIT	0.41044186
81	IGF1R	0.39258269
82	PRKCZ	0.38590337
83	PRKACB	0.38484997
84	STK3	0.36432377
85	LIMK1	0.36214623
86	CDK19	0.36137172
87	PRKCA	0.34704748
88	SGK1	0.34120543
89	RPS6KA5	0.31144435
90	CSNK1G1	0.31031044
91	EPHA4	0.30784169
92	TRIM28	0.30199961
93	STK11	0.28619639
94	PLK2	0.25393945
95	MAPKAPK5	0.25244870
96	CAMK2A	0.25097085
97	CSNK1G2	0.24774353
98	FGFR1	0.24374136
99	TIE1	0.24335581
100	DYRK1A	0.24262760

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Caffeine metabolism_Homo sapiens_hsa00232	3.48798947
2	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	3.46702430
3	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	3.09140982
4	Primary bile acid biosynthesis_Homo sapiens_hsa00120	2.97386049
5	Retinol metabolism_Homo sapiens_hsa00830	2.72330532
6	Chemical carcinogenesis_Homo sapiens_hsa05204	2.66608382
7	Butanoate metabolism_Homo sapiens_hsa00650	2.56836068
8	Fatty acid degradation_Homo sapiens_hsa00071	2.49987895
9	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	2.49397292
10	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	2.48678226
11	Steroid hormone biosynthesis_Homo sapiens_hsa00140	2.37194456
12	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	2.37049192
13	Complement and coagulation cascades_Homo sapiens_hsa04610	2.33879886
14	Linoleic acid metabolism_Homo sapiens_hsa00591	2.30753653
15	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	2.27140978
16	Tryptophan metabolism_Homo sapiens_hsa00380	2.24696468
17	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.23120621
18	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	2.18897165
19	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	2.13597241
20	Propanoate metabolism_Homo sapiens_hsa00640	2.08533427
21	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.05445466
22	Histidine metabolism_Homo sapiens_hsa00340	1.90399346
23	Drug metabolism - other enzymes_Homo sapiens_hsa00983	1.80757320
24	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.69189688
25	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	1.64453204
26	Peroxisome_Homo sapiens_hsa04146	1.59129867
27	Arginine biosynthesis_Homo sapiens_hsa00220	1.56466221
28	Cyanoamino acid metabolism_Homo sapiens_hsa00460	1.55532280
29	Phenylalanine metabolism_Homo sapiens_hsa00360	1.51404535
30	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.49010754
31	Fat digestion and absorption_Homo sapiens_hsa04975	1.45555943
32	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.43766826
33	Starch and sucrose metabolism_Homo sapiens_hsa00500	1.43707437
34	Tyrosine metabolism_Homo sapiens_hsa00350	1.40990762
35	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.38385030
36	beta-Alanine metabolism_Homo sapiens_hsa00410	1.36049771
37	Sulfur metabolism_Homo sapiens_hsa00920	1.30424165
38	Bile secretion_Homo sapiens_hsa04976	1.29956420
39	PPAR signaling pathway_Homo sapiens_hsa03320	1.29862672
40	Fatty acid metabolism_Homo sapiens_hsa01212	1.20275843
41	Nitrogen metabolism_Homo sapiens_hsa00910	1.15349452
42	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	1.14340343
43	Vitamin digestion and absorption_Homo sapiens_hsa04977	1.12447129
44	Pyruvate metabolism_Homo sapiens_hsa00620	1.11575482
45	Oxidative phosphorylation_Homo sapiens_hsa00190	1.09038328
46	ABC transporters_Homo sapiens_hsa02010	1.02399111
47	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	1.01121328
48	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.96565489
49	Arginine and proline metabolism_Homo sapiens_hsa00330	0.90643391
50	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.86772346
51	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.85243160
52	Ether lipid metabolism_Homo sapiens_hsa00565	0.82385981
53	Mineral absorption_Homo sapiens_hsa04978	0.81535753
54	Phototransduction_Homo sapiens_hsa04744	0.80597158
55	Protein export_Homo sapiens_hsa03060	0.80326717
56	Parkinsons disease_Homo sapiens_hsa05012	0.77209623
57	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	0.76427510
58	Staphylococcus aureus infection_Homo sapiens_hsa05150	0.73728231
59	Glycerolipid metabolism_Homo sapiens_hsa00561	0.71990735
60	Metabolic pathways_Homo sapiens_hsa01100	0.69010521
61	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.67453926
62	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.62694991
63	Fatty acid elongation_Homo sapiens_hsa00062	0.62258153
64	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.62218574
65	Selenocompound metabolism_Homo sapiens_hsa00450	0.59829434
66	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.57567162
67	Glutathione metabolism_Homo sapiens_hsa00480	0.55966920
68	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.55917523
69	Sulfur relay system_Homo sapiens_hsa04122	0.53451838
70	Regulation of autophagy_Homo sapiens_hsa04140	0.45983435
71	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.45736007
72	Renin-angiotensin system_Homo sapiens_hsa04614	0.45045132
73	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.43282444
74	One carbon pool by folate_Homo sapiens_hsa00670	0.42402861
75	Circadian rhythm_Homo sapiens_hsa04710	0.40851554
76	Alzheimers disease_Homo sapiens_hsa05010	0.39058848
77	Steroid biosynthesis_Homo sapiens_hsa00100	0.38925485
78	Carbon metabolism_Homo sapiens_hsa01200	0.38477629
79	Lysine degradation_Homo sapiens_hsa00310	0.35949245
80	Huntingtons disease_Homo sapiens_hsa05016	0.35376961
81	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.34610366
82	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.31607845
83	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.31159163
84	Basal transcription factors_Homo sapiens_hsa03022	0.30411340
85	Sphingolipid metabolism_Homo sapiens_hsa00600	0.27203647
86	Carbohydrate digestion and absorption_Homo sapiens_hsa04973	0.26875074
87	RNA polymerase_Homo sapiens_hsa03020	0.25426196
88	Collecting duct acid secretion_Homo sapiens_hsa04966	0.25031136
89	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	0.21449463
90	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	0.20056847
91	Cardiac muscle contraction_Homo sapiens_hsa04260	0.19898751
92	Serotonergic synapse_Homo sapiens_hsa04726	0.19624793
93	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.18743959
94	RNA degradation_Homo sapiens_hsa03018	0.17749182
95	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.17417276
96	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.17228734
97	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.13686641
98	Taste transduction_Homo sapiens_hsa04742	0.08301291
99	Insulin resistance_Homo sapiens_hsa04931	0.05822461
100	Homologous recombination_Homo sapiens_hsa03440	0.04020259

C11ORF54

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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