ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	negative regulation of fibrinolysis (GO:0051918)	6.90389482
2	regulation of fibrinolysis (GO:0051917)	6.48204568
3	regulation of protein activation cascade (GO:2000257)	6.31962709
4	regulation of complement activation (GO:0030449)	6.00487634
5	peptidyl-glutamic acid carboxylation (GO:0017187)	5.99796154
6	protein carboxylation (GO:0018214)	5.99796154
7	very-low-density lipoprotein particle assembly (GO:0034379)	5.66424295
8	erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)	5.66113867
9	L-phenylalanine catabolic process (GO:0006559)	5.66113867
10	regulation of cholesterol esterification (GO:0010872)	5.60311815
11	plasma lipoprotein particle assembly (GO:0034377)	5.51323289
12	complement activation, alternative pathway (GO:0006957)	5.43985651
13	plasma lipoprotein particle remodeling (GO:0034369)	5.36390560
14	protein-lipid complex remodeling (GO:0034368)	5.36390560
15	macromolecular complex remodeling (GO:0034367)	5.36390560
16	erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)	5.29597570
17	L-phenylalanine metabolic process (GO:0006558)	5.29597570
18	triglyceride-rich lipoprotein particle remodeling (GO:0034370)	5.24760311
19	high-density lipoprotein particle remodeling (GO:0034375)	5.21783211
20	cholesterol efflux (GO:0033344)	5.19238534
21	negative regulation of cholesterol transport (GO:0032375)	5.08952904
22	negative regulation of sterol transport (GO:0032372)	5.08952904
23	reverse cholesterol transport (GO:0043691)	5.01927728
24	low-density lipoprotein particle remodeling (GO:0034374)	4.99720009
25	protein-lipid complex assembly (GO:0065005)	4.97402587
26	intestinal cholesterol absorption (GO:0030299)	4.88936505
27	blood coagulation, intrinsic pathway (GO:0007597)	4.84993821
28	plasma lipoprotein particle organization (GO:0071827)	4.60263711
29	phospholipid efflux (GO:0033700)	4.57690544
30	regulation of plasminogen activation (GO:0010755)	4.53102575
31	epoxygenase P450 pathway (GO:0019373)	4.40464887
32	protein-lipid complex subunit organization (GO:0071825)	4.36371181
33	ethanol oxidation (GO:0006069)	4.28194146
34	regulation of apoptotic cell clearance (GO:2000425)	4.11987971
35	plasma lipoprotein particle clearance (GO:0034381)	4.08553146
36	glutamate metabolic process (GO:0006536)	4.07951719
37	glyoxylate metabolic process (GO:0046487)	4.07600380
38	fibrinolysis (GO:0042730)	4.05530393
39	positive regulation of heterotypic cell-cell adhesion (GO:0034116)	4.00222247
40	regulation of bile acid biosynthetic process (GO:0070857)	3.88301929
41	negative regulation of protein activation cascade (GO:2000258)	3.87404197
42	exogenous drug catabolic process (GO:0042738)	3.81774315
43	positive regulation of triglyceride lipase activity (GO:0061365)	3.77020143
44	positive regulation of lipoprotein lipase activity (GO:0051006)	3.77020143
45	protein activation cascade (GO:0072376)	3.74900217
46	drug catabolic process (GO:0042737)	3.71057056
47	regulation of cholesterol homeostasis (GO:2000188)	3.68959809
48	negative regulation of lipase activity (GO:0060192)	3.68708402
49	urea metabolic process (GO:0019627)	3.67825735
50	triglyceride homeostasis (GO:0070328)	3.64768187
51	acylglycerol homeostasis (GO:0055090)	3.64768187
52	regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	3.64753857
53	negative regulation of blood coagulation (GO:0030195)	3.63687242
54	negative regulation of hemostasis (GO:1900047)	3.63687242
55	acute-phase response (GO:0006953)	3.62069726
56	regulation of cholesterol biosynthetic process (GO:0045540)	3.61077308
57	proline metabolic process (GO:0006560)	3.53244762
58	aromatic amino acid family catabolic process (GO:0009074)	3.51131575
59	complement activation, classical pathway (GO:0006958)	3.50361686
60	omega-hydroxylase P450 pathway (GO:0097267)	3.48989248
61	intestinal absorption (GO:0050892)	3.48666906
62	cellular glucuronidation (GO:0052695)	3.44451647
63	regulation of humoral immune response (GO:0002920)	3.44036501
64	positive regulation of fatty acid biosynthetic process (GO:0045723)	3.39020723
65	ethanol metabolic process (GO:0006067)	3.36128921
66	lipoprotein metabolic process (GO:0042157)	3.34621665
67	urea cycle (GO:0000050)	3.34196371
68	positive regulation of blood coagulation (GO:0030194)	3.32282457
69	positive regulation of hemostasis (GO:1900048)	3.32282457
70	bile acid metabolic process (GO:0008206)	3.30238712
71	dicarboxylic acid biosynthetic process (GO:0043650)	3.29982426
72	negative regulation of coagulation (GO:0050819)	3.29538295
73	serine family amino acid catabolic process (GO:0009071)	3.27729186
74	axon ensheathment in central nervous system (GO:0032291)	3.27453442
75	central nervous system myelination (GO:0022010)	3.27453442
76	nitrogen cycle metabolic process (GO:0071941)	3.26750344
77	cholesterol homeostasis (GO:0042632)	3.26555240
78	cholesterol transport (GO:0030301)	3.25549250
79	sterol transport (GO:0015918)	3.25549250
80	glucuronate metabolic process (GO:0019585)	3.24265422
81	uronic acid metabolic process (GO:0006063)	3.24265422
82	diacylglycerol metabolic process (GO:0046339)	3.22721595
83	negative regulation of wound healing (GO:0061045)	3.22170253
84	sterol homeostasis (GO:0055092)	3.21319527
85	neurotransmitter-gated ion channel clustering (GO:0072578)	3.20207902
86	complement activation (GO:0006956)	3.18331413
87	renal system process involved in regulation of systemic arterial blood pressure (GO:0003071)	3.17817852
88	positive regulation of steroid metabolic process (GO:0045940)	3.09949532
89	positive regulation of extracellular matrix organization (GO:1903055)	3.05232891
90	regulation of cholesterol metabolic process (GO:0090181)	3.04539452
91	positive regulation of coagulation (GO:0050820)	3.03409588
92	cellular sodium ion homeostasis (GO:0006883)	3.03235424
93	regulation of triglyceride catabolic process (GO:0010896)	3.02951770
94	drug metabolic process (GO:0017144)	3.02604274
95	bile acid and bile salt transport (GO:0015721)	3.00179032
96	embryonic retina morphogenesis in camera-type eye (GO:0060059)	2.98676096
97	phospholipid homeostasis (GO:0055091)	2.95660720
98	C4-dicarboxylate transport (GO:0015740)	2.95462077
99	glutamine family amino acid biosynthetic process (GO:0009084)	2.93185866
100	positive regulation of lipid catabolic process (GO:0050996)	2.93129903

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ESR1_17901129_ChIP-ChIP_LIVER_Mouse	7.39431066
2	RXR_22158963_ChIP-Seq_LIVER_Mouse	4.27799250
3	LXR_22158963_ChIP-Seq_LIVER_Mouse	3.66517555
4	PPARA_22158963_ChIP-Seq_LIVER_Mouse	3.48611583
5	FOXO1_23066095_ChIP-Seq_LIVER_Mouse	3.07592853
6	FOXA2_19822575_ChIP-Seq_HepG2_Human	2.98290288
7	NR1I2_20693526_ChIP-Seq_LIVER_Mouse	2.90073324
8	EGR1_23403033_ChIP-Seq_LIVER_Mouse	2.85451540
9	THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse	2.67419792
10	PPARG_19300518_ChIP-PET_3T3-L1_Mouse	2.55186040
11	MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human	2.53820661
12	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	2.28081839
13	HNF4A_19822575_ChIP-Seq_HepG2_Human	2.11447403
14	EZH2_22144423_ChIP-Seq_EOC_Human	1.87991547
15	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.86692424
16	ESR2_21235772_ChIP-Seq_MCF-7_Human	1.85323810
17	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.82312054
18	CDX2_20551321_ChIP-Seq_CACO-2_Human	1.81798385
19	EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	1.78053550
20	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	1.72914433
21	TRIM28_21343339_ChIP-Seq_HEK293_Human	1.72679146
22	DROSHA_22980978_ChIP-Seq_HELA_Human	1.70294523
23	CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human	1.68397192
24	ERG_21242973_ChIP-ChIP_JURKAT_Human	1.66260646
25	TCF7L2_21901280_ChIP-Seq_H4IIE_Rat	1.65555115
26	ESR1_15608294_ChIP-ChIP_MCF-7_Human	1.64312378
27	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	1.62681469
28	HNF4A_19761587_ChIP-ChIP_CACO-2_Human	1.55758081
29	RNF2_18974828_ChIP-Seq_MESCs_Mouse	1.51375951
30	EZH2_18974828_ChIP-Seq_MESCs_Mouse	1.51375951
31	SUZ12_20075857_ChIP-Seq_MESCs_Mouse	1.50575395
32	MTF2_20144788_ChIP-Seq_MESCs_Mouse	1.46740751
33	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.46739531
34	SUZ12_27294783_Chip-Seq_ESCs_Mouse	1.39769611
35	RARB_27405468_Chip-Seq_BRAIN_Mouse	1.36626440
36	AR_21572438_ChIP-Seq_LNCaP_Human	1.35984300
37	REST_21632747_ChIP-Seq_MESCs_Mouse	1.33990732
38	DNAJC2_21179169_ChIP-ChIP_NT2_Human	1.33010211
39	JARID2_20064375_ChIP-Seq_MESCs_Mouse	1.31232427
40	CDX2_19796622_ChIP-Seq_MESCs_Mouse	1.28570817
41	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.27663062
42	SUZ12_18974828_ChIP-Seq_MESCs_Mouse	1.25707097
43	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.25520492
44	BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human	1.25169698
45	CLOCK_20551151_ChIP-Seq_293T_Human	1.24685370
46	TFAP2C_20629094_ChIP-Seq_MCF-7_Human	1.23511427
47	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.23456645
48	SUZ12_18692474_ChIP-Seq_MEFs_Mouse	1.22040634
49	ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse	1.21849750
50	REST_18959480_ChIP-ChIP_MESCs_Mouse	1.18569135
51	CTNNB1_20460455_ChIP-Seq_HCT116_Human	1.17534491
52	SMAD3_22036565_ChIP-Seq_ESCs_Mouse	1.17377642
53	GBX2_23144817_ChIP-Seq_PC3_Human	1.15923381
54	ESR1_21235772_ChIP-Seq_MCF-7_Human	1.12464759
55	LXR_22292898_ChIP-Seq_THP-1_Human	1.11166672
56	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	1.08176412
57	RNF2_27304074_Chip-Seq_ESCs_Mouse	1.05434498
58	ZFP281_18757296_ChIP-ChIP_E14_Mouse	1.05376591
59	ZNF263_19887448_ChIP-Seq_K562_Human	1.04386715
60	GATA4_25053715_ChIP-Seq_YYC3_Human	1.04034346
61	FOXO3_23340844_ChIP-Seq_DLD1_Human	1.03237572
62	RCOR2_21632747_ChIP-Seq_MESCs_Mouse	1.02168942
63	POU5F1_16518401_ChIP-PET_MESCs_Mouse	1.00357782
64	TCF4_18268006_ChIP-ChIP_LS174T_Human	0.99757073
65	EED_16625203_ChIP-ChIP_MESCs_Mouse	0.99455420
66	ZNF652_21678463_ChIP-ChIP_ZR75-1_Human	0.98166458
67	SOX2_27498859_Chip-Seq_STOMACH_Mouse	0.98157391
68	KDM2B_26808549_Chip-Seq_K562_Human	0.96503539
69	ESR1_20079471_ChIP-ChIP_T-47D_Human	0.96330404
70	ZNF217_24962896_ChIP-Seq_MCF-7_Human	0.94632562
71	RING1B_27294783_Chip-Seq_ESCs_Mouse	0.93619201
72	SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse	0.93576985
73	SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse	0.93341849
74	WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse	0.92446125
75	PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse	0.91892562
76	RCOR3_21632747_ChIP-Seq_MESCs_Mouse	0.91407425
77	EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human	0.90243828
78	RARG_19884340_ChIP-ChIP_MEFs_Mouse	0.88354332
79	CTCF_27219007_Chip-Seq_Bcells_Human	0.87672117
80	SREBP1_19666523_ChIP-Seq_LIVER_Mouse	0.87227110
81	PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse	0.85893927
82	NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse	0.84615558
83	WT1_25993318_ChIP-Seq_PODOCYTE_Human	0.82866833
84	EZH2_27304074_Chip-Seq_ESCs_Mouse	0.81263863
85	SOX2_20726797_ChIP-Seq_SW620_Human	0.80351819
86	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	0.80022873
87	PIAS1_25552417_ChIP-Seq_VCAP_Human	0.79966123
88	OLIG2_26023283_ChIP-Seq_AINV15_Mouse	0.79515600
89	SALL4_18804426_ChIP-ChIP_XEN_Mouse	0.78965213
90	NFIB_24661679_ChIP-Seq_LUNG_Mouse	0.78159563
91	GATA3_20176728_ChIP-ChIP_TSCs_Mouse	0.77322826
92	RING1B_27294783_Chip-Seq_NPCs_Mouse	0.76502879
93	FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human	0.75450223
94	MYC_19915707_ChIP-ChIP_AK7_Human	0.75127769
95	AR_21915096_ChIP-Seq_LNCaP-1F5_Human	0.74282217
96	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	0.73451087
97	SMC4_20622854_ChIP-Seq_HELA_Human	0.70790972
98	MYC_27129775_Chip-Seq_CORNEA_Mouse	0.69507084
99	GATA6_25053715_ChIP-Seq_YYC3_Human	0.69474660
100	SMAD4_21741376_ChIP-Seq_HESCs_Human	0.68945796

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002139_abnormal_hepatobiliary_system	7.00703461
2	MP0005360_urolithiasis	5.33109987
3	MP0005365_abnormal_bile_salt	4.76453111
4	MP0005085_abnormal_gallbladder_physiolo	4.48298985
5	MP0003195_calcinosis	3.77073478
6	MP0001666_abnormal_nutrient_absorption	3.54388540
7	MP0008875_abnormal_xenobiotic_pharmacok	3.53468115
8	MP0010329_abnormal_lipoprotein_level	3.45167879
9	MP0003122_maternal_imprinting	3.17383010
10	MP0000566_synostosis	2.82379890
11	MP0004270_analgesia	2.70094595
12	MP0003868_abnormal_feces_composition	2.66084000
13	MP0003252_abnormal_bile_duct	2.58197798
14	MP0009840_abnormal_foam_cell	2.07844958
15	MP0009780_abnormal_chondrocyte_physiolo	1.93571155
16	MP0005332_abnormal_amino_acid	1.89931475
17	MP0004859_abnormal_synaptic_plasticity	1.87535904
18	MP0002089_abnormal_postnatal_growth/wei	1.87381395
19	MP0003329_amyloid_beta_deposits	1.85503525
20	MP0002876_abnormal_thyroid_physiology	1.79241521
21	MP0003690_abnormal_glial_cell	1.69508900
22	MP0002118_abnormal_lipid_homeostasis	1.66517953
23	MP0003123_paternal_imprinting	1.63617245
24	MP0003879_abnormal_hair_cell	1.63210329
25	MP0002064_seizures	1.58260351
26	MP0000604_amyloidosis	1.52160274
27	MP0004019_abnormal_vitamin_homeostasis	1.49142509
28	MP0002138_abnormal_hepatobiliary_system	1.42679227
29	MP0000920_abnormal_myelination	1.38766273
30	MP0000609_abnormal_liver_physiology	1.38417727
31	MP0003191_abnormal_cellular_cholesterol	1.36299587
32	MP0003635_abnormal_synaptic_transmissio	1.34971358
33	MP0005646_abnormal_pituitary_gland	1.25588531
34	MP0005409_darkened_coat_color	1.24900593
35	MP0001486_abnormal_startle_reflex	1.23843690
36	MP0005423_abnormal_somatic_nervous	1.23108861
37	MP0003633_abnormal_nervous_system	1.22373026
38	MP0003632_abnormal_nervous_system	1.19827474
39	MP0003880_abnormal_central_pattern	1.15548326
40	MP0005167_abnormal_blood-brain_barrier	1.15446517
41	MP0003172_abnormal_lysosome_physiology	1.14953057
42	MP0003136_yellow_coat_color	1.13813894
43	MP0010368_abnormal_lymphatic_system	1.13253325
44	MP0005408_hypopigmentation	1.12472689
45	MP0002734_abnormal_mechanical_nocicepti	1.11335961
46	MP0003631_nervous_system_phenotype	1.11095602
47	MP0002063_abnormal_learning/memory/cond	1.07275371
48	MP0002909_abnormal_adrenal_gland	1.04736998
49	MP0009745_abnormal_behavioral_response	1.04452910
50	MP0003183_abnormal_peptide_metabolism	1.01542505
51	MP0001915_intracranial_hemorrhage	1.01156746
52	MP0005058_abnormal_lysosome_morphology	0.99974357
53	MP0005636_abnormal_mineral_homeostasis	0.97518131
54	MP0002272_abnormal_nervous_system	0.95802468
55	MP0002572_abnormal_emotion/affect_behav	0.95137146
56	MP0000639_abnormal_adrenal_gland	0.93112012
57	MP0008569_lethality_at_weaning	0.89328486
58	MP0002557_abnormal_social/conspecific_i	0.88571283
59	MP0004885_abnormal_endolymph	0.85264713
60	MP0009046_muscle_twitch	0.83755943
61	MP0001764_abnormal_homeostasis	0.83100925
62	MP0002249_abnormal_larynx_morphology	0.81128599
63	MP0003634_abnormal_glial_cell	0.76837214
64	MP0009643_abnormal_urine_homeostasis	0.73504281
65	MP0002822_catalepsy	0.73377031
66	MP0003121_genomic_imprinting	0.73165323
67	MP0005551_abnormal_eye_electrophysiolog	0.72092567
68	MP0005584_abnormal_enzyme/coenzyme_acti	0.70672927
69	MP0002971_abnormal_brown_adipose	0.69946422
70	MP0009642_abnormal_blood_homeostasis	0.69793747
71	MP0004264_abnormal_extraembryonic_tissu	0.67589018
72	MP0002078_abnormal_glucose_homeostasis	0.67516722
73	MP0005670_abnormal_white_adipose	0.67303308
74	MP0001756_abnormal_urination	0.67151307
75	MP0005377_hearing/vestibular/ear_phenot	0.66961417
76	MP0003878_abnormal_ear_physiology	0.66961417
77	MP0001440_abnormal_grooming_behavior	0.66889789
78	MP0009697_abnormal_copulation	0.66286354
79	MP0000598_abnormal_liver_morphology	0.66020492
80	MP0005451_abnormal_body_composition	0.65809014
81	MP0005319_abnormal_enzyme/_coenzyme	0.65741138
82	MP0000955_abnormal_spinal_cord	0.65426531
83	MP0005448_abnormal_energy_balance	0.65126619
84	MP0001501_abnormal_sleep_pattern	0.64070348
85	MP0004742_abnormal_vestibular_system	0.63621774
86	MP0005084_abnormal_gallbladder_morpholo	0.63489614
87	MP0003953_abnormal_hormone_level	0.62285674
88	MP0001984_abnormal_olfaction	0.60845050
89	MP0001968_abnormal_touch/_nociception	0.60788733
90	MP0003075_altered_response_to	0.59121476
91	MP0002067_abnormal_sensory_capabilities	0.57339899
92	MP0000778_abnormal_nervous_system	0.56181709
93	MP0005187_abnormal_penis_morphology	0.56143747
94	MP0002733_abnormal_thermal_nociception	0.56078600
95	MP0002132_abnormal_respiratory_system	0.54933348
96	MP0004043_abnormal_pH_regulation	0.53883553
97	MP0002229_neurodegeneration	0.53819648
98	MP0005386_behavior/neurological_phenoty	0.53341506
99	MP0004924_abnormal_behavior	0.53341506
100	MP0002066_abnormal_motor_capabilities/c	0.53152236

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Deep venous thrombosis (HP:0002625)	9.96305590
2	Prolonged partial thromboplastin time (HP:0003645)	7.41067102
3	Complement deficiency (HP:0004431)	7.17078599
4	Hypobetalipoproteinemia (HP:0003563)	6.72265672
5	Joint hemorrhage (HP:0005261)	6.06671727
6	Abnormality of monocarboxylic acid metabolism (HP:0010996)	5.84635839
7	Abnormality of aromatic amino acid family metabolism (HP:0004338)	5.77821638
8	Abnormality of complement system (HP:0005339)	5.41978945
9	Abnormality of the common coagulation pathway (HP:0010990)	4.84488706
10	Xanthomatosis (HP:0000991)	4.76079061
11	Glomerulonephritis (HP:0000099)	4.75709548
12	Systemic lupus erythematosus (HP:0002725)	4.66932789
13	Spontaneous abortion (HP:0005268)	4.54260755
14	Conjugated hyperbilirubinemia (HP:0002908)	4.17297422
15	Hypolipoproteinemia (HP:0010981)	4.05547002
16	Hypercholesterolemia (HP:0003124)	3.63799376
17	Hemorrhage of the eye (HP:0011885)	3.46695749
18	Intrahepatic cholestasis (HP:0001406)	3.45336862
19	Hyperlipoproteinemia (HP:0010980)	3.28733050
20	Epidermoid cyst (HP:0200040)	3.23851872
21	Abnormality of the level of lipoprotein cholesterol (HP:0010979)	3.10344546
22	Vascular calcification (HP:0004934)	3.03136793
23	Fat malabsorption (HP:0002630)	2.95793653
24	Nephritis (HP:0000123)	2.78145288
25	Abnormality of glutamine family amino acid metabolism (HP:0010902)	2.77806154
26	Menorrhagia (HP:0000132)	2.77729788
27	Mitral stenosis (HP:0001718)	2.77402718
28	Osteomalacia (HP:0002749)	2.69197129
29	Gingival bleeding (HP:0000225)	2.68231491
30	Hypoalphalipoproteinemia (HP:0003233)	2.66757877
31	Acanthocytosis (HP:0001927)	2.63216067
32	Cardiovascular calcification (HP:0011915)	2.58218456
33	Hyperglycinemia (HP:0002154)	2.47736016
34	Abnormality of carpal bone ossification (HP:0006257)	2.45453374
35	Bronchomalacia (HP:0002780)	2.45131179
36	Hepatoblastoma (HP:0002884)	2.43711702
37	Abnormality of the intrinsic pathway (HP:0010989)	2.41033506
38	Purpura (HP:0000979)	2.39732950
39	Alacrima (HP:0000522)	2.39535204
40	Abnormal tarsal ossification (HP:0008369)	2.37842682
41	Abnormality of serine family amino acid metabolism (HP:0010894)	2.35929071
42	Abnormality of glycine metabolism (HP:0010895)	2.35929071
43	Arthropathy (HP:0003040)	2.28884880
44	Hyperglycinuria (HP:0003108)	2.27500375
45	Bifid scrotum (HP:0000048)	2.21843261
46	Hypophosphatemic rickets (HP:0004912)	2.21547557
47	Focal motor seizures (HP:0011153)	2.19911220
48	Hydroxyprolinuria (HP:0003080)	2.17726647
49	Abnormality of proline metabolism (HP:0010907)	2.17726647
50	Flat acetabular roof (HP:0003180)	2.15784051
51	Neurofibrillary tangles (HP:0002185)	2.13584230
52	Rickets (HP:0002748)	2.12792557
53	Potter facies (HP:0002009)	2.11752791
54	Facial shape deformation (HP:0011334)	2.11752791
55	Retinal atrophy (HP:0001105)	2.10382895
56	Hepatocellular carcinoma (HP:0001402)	2.10015533
57	Thrombophlebitis (HP:0004418)	2.08067626
58	Recurrent gram-negative bacterial infections (HP:0005420)	2.07381928
59	Abnormality of the nasal septum (HP:0000419)	2.04137036
60	Abnormal hand bone ossification (HP:0010660)	2.03143216
61	Neonatal short-limb short stature (HP:0008921)	2.01075584
62	Epileptic encephalopathy (HP:0200134)	1.99967232
63	Status epilepticus (HP:0002133)	1.96574025
64	Hyperammonemia (HP:0001987)	1.96310253
65	Action tremor (HP:0002345)	1.94090709
66	Abnormal ossification of hand bones (HP:0005921)	1.93504797
67	Skin nodule (HP:0200036)	1.91705379
68	Abnormality of pyrimidine metabolism (HP:0004353)	1.90796995
69	Small epiphyses (HP:0010585)	1.90346768
70	Broad alveolar ridges (HP:0000187)	1.89508843
71	Amyloidosis (HP:0011034)	1.87669182
72	Aplasia involving bones of the upper limbs (HP:0009823)	1.82579211
73	Aplasia of the phalanges of the hand (HP:0009802)	1.82579211
74	Aplasia involving bones of the extremities (HP:0009825)	1.82579211
75	Hypoglycemic coma (HP:0001325)	1.80810568
76	Myokymia (HP:0002411)	1.80405281
77	Megalencephaly (HP:0001355)	1.78564002
78	Widely patent fontanelles and sutures (HP:0004492)	1.75122389
79	Increased serum pyruvate (HP:0003542)	1.73927816
80	Focal seizures (HP:0007359)	1.73534274
81	Abnormality of the lumbar spine (HP:0100712)	1.73095221
82	Scanning speech (HP:0002168)	1.72694202
83	Decreased lacrimation (HP:0000633)	1.72588883
84	Abnormality of the Achilles tendon (HP:0005109)	1.72007293
85	Impaired pain sensation (HP:0007328)	1.71952313
86	Abnormality of pain sensation (HP:0010832)	1.71952313
87	Enlarged kidneys (HP:0000105)	1.66777342
88	Steatorrhea (HP:0002570)	1.66085178
89	Delayed CNS myelination (HP:0002188)	1.65741788
90	Cerebral inclusion bodies (HP:0100314)	1.64807821
91	Abnormality of glycolysis (HP:0004366)	1.61442427
92	Vaginal fistula (HP:0004320)	1.60274108
93	Neonatal death (HP:0003811)	1.57721857
94	Paraparesis (HP:0002385)	1.56516571
95	Atonic seizures (HP:0010819)	1.56258708
96	Pigmentary retinal degeneration (HP:0001146)	1.55774504
97	Broad palm (HP:0001169)	1.55273081
98	Partial duplication of thumb phalanx (HP:0009944)	1.54505803
99	Myocardial infarction (HP:0001658)	1.53598240
100	Poikilocytosis (HP:0004447)	1.52443782

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FGFR4	5.07562319
2	FGFR3	3.39425669
3	EPHA4	3.26163803
4	NTRK3	3.25981282
5	TYRO3	3.04098895
6	CASK	2.77445966
7	RIPK1	2.77408994
8	ICK	2.76425399
9	NTRK2	2.52382336
10	FGFR2	2.49523729
11	MARK1	2.12635553
12	WNK4	2.01961473
13	SGK223	1.78917989
14	SGK494	1.78917989
15	PIK3CA	1.76679412
16	PDGFRA	1.71988636
17	NTRK1	1.70759028
18	TRIB3	1.68733452
19	SIK2	1.57977746
20	DAPK2	1.42752905
21	PRKD3	1.41482549
22	FGFR1	1.40104799
23	ERN1	1.38634865
24	SGK2	1.32594899
25	RET	1.30403547
26	LMTK2	1.29444729
27	UHMK1	1.28738156
28	ERBB2	1.28719647
29	SIK1	1.26457565
30	MAPK15	1.26373094
31	LATS2	1.23415121
32	PAK6	1.19727274
33	PNCK	1.18653033
34	MAP3K2	1.17364548
35	PDPK1	1.15950150
36	SGK3	1.14600316
37	CAMKK1	1.14242298
38	KSR2	1.11856613
39	PRKCG	1.09283682
40	MINK1	1.06127498
41	SGK1	1.01793415
42	AKT3	1.01263013
43	DYRK1B	0.97147027
44	STK39	0.96379250
45	CDK12	0.93873051
46	MAP3K9	0.92699509
47	EEF2K	0.90969206
48	MAPK11	0.90667891
49	WNK1	0.88038545
50	PRKAA2	0.86834362
51	PDK1	0.83619116
52	CDK5	0.83017336
53	DDR2	0.80670665
54	PRKCZ	0.74845472
55	CAMK1D	0.74150373
56	PRKACG	0.73029676
57	EPHA2	0.71804116
58	CAMK2B	0.71616437
59	CAMK1G	0.70711644
60	RPS6KB1	0.70160527
61	MAP2K4	0.67250258
62	PHKG2	0.64429643
63	PHKG1	0.64429643
64	PRKAA1	0.63451887
65	BRSK1	0.63400245
66	EPHA3	0.62334477
67	CSNK1E	0.61368781
68	NEK6	0.61081331
69	CAMK2G	0.55939862
70	MARK2	0.54583036
71	MET	0.53603164
72	LATS1	0.53337244
73	RPS6KA3	0.52733153
74	PKN2	0.51558001
75	MAPK10	0.50742180
76	MAPK13	0.50679265
77	CDK15	0.50114818
78	STK38	0.50075701
79	SRC	0.49529655
80	MAPKAPK3	0.48627409
81	CSNK1D	0.46055559
82	DAPK1	0.44461879
83	CDK11A	0.44180775
84	PKN1	0.42757884
85	CDK18	0.42540944
86	PTK6	0.42274574
87	CAMK4	0.41365494
88	PRKG1	0.41261372
89	CAMK2D	0.40376494
90	PINK1	0.39161930
91	MAPKAPK5	0.39115280
92	MAP3K1	0.37556092
93	DYRK1A	0.37384678
94	MST1R	0.36322916
95	PRKG2	0.36254986
96	CAMK2A	0.35357745
97	ALK	0.33262332
98	FYN	0.32529686
99	CDK14	0.31910434
100	MAP2K6	0.31232022

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Complement and coagulation cascades_Homo sapiens_hsa04610	4.29035316
2	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	3.76092381
3	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	2.95664851
4	Arginine biosynthesis_Homo sapiens_hsa00220	2.76044976
5	Primary bile acid biosynthesis_Homo sapiens_hsa00120	2.58401873
6	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	2.46924932
7	Histidine metabolism_Homo sapiens_hsa00340	2.42944032
8	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	2.37598374
9	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	2.31212901
10	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	2.29525121
11	Fatty acid degradation_Homo sapiens_hsa00071	2.22629072
12	Retinol metabolism_Homo sapiens_hsa00830	2.19162861
13	Bile secretion_Homo sapiens_hsa04976	2.14639730
14	Phenylalanine metabolism_Homo sapiens_hsa00360	2.14380884
15	Caffeine metabolism_Homo sapiens_hsa00232	2.00060911
16	Chemical carcinogenesis_Homo sapiens_hsa05204	1.95630289
17	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.95037772
18	Fat digestion and absorption_Homo sapiens_hsa04975	1.93730178
19	PPAR signaling pathway_Homo sapiens_hsa03320	1.93284288
20	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	1.91950652
21	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	1.83000102
22	Cyanoamino acid metabolism_Homo sapiens_hsa00460	1.82644606
23	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	1.82475089
24	Vitamin B6 metabolism_Homo sapiens_hsa00750	1.79062651
25	Tyrosine metabolism_Homo sapiens_hsa00350	1.70613789
26	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.62911975
27	Butanoate metabolism_Homo sapiens_hsa00650	1.54805106
28	Arginine and proline metabolism_Homo sapiens_hsa00330	1.51389585
29	Drug metabolism - other enzymes_Homo sapiens_hsa00983	1.48262513
30	Starch and sucrose metabolism_Homo sapiens_hsa00500	1.47087362
31	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.45049030
32	Prion diseases_Homo sapiens_hsa05020	1.38822260
33	Fatty acid metabolism_Homo sapiens_hsa01212	1.31847915
34	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	1.27832205
35	Tryptophan metabolism_Homo sapiens_hsa00380	1.23557314
36	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	1.20732060
37	Steroid biosynthesis_Homo sapiens_hsa00100	1.09499226
38	Vitamin digestion and absorption_Homo sapiens_hsa04977	1.09025342
39	Fatty acid biosynthesis_Homo sapiens_hsa00061	1.07949398
40	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.07046469
41	Staphylococcus aureus infection_Homo sapiens_hsa05150	1.06028110
42	ABC transporters_Homo sapiens_hsa02010	1.05805516
43	Peroxisome_Homo sapiens_hsa04146	1.01059457
44	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.99668440
45	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.98545925
46	beta-Alanine metabolism_Homo sapiens_hsa00410	0.92319597
47	Pyruvate metabolism_Homo sapiens_hsa00620	0.80848954
48	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	0.78795077
49	Propanoate metabolism_Homo sapiens_hsa00640	0.75927051
50	Linoleic acid metabolism_Homo sapiens_hsa00591	0.74709024
51	Thyroid hormone synthesis_Homo sapiens_hsa04918	0.74655963
52	Nicotine addiction_Homo sapiens_hsa05033	0.74083784
53	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.73456259
54	Mineral absorption_Homo sapiens_hsa04978	0.71748862
55	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.70136861
56	Carbon metabolism_Homo sapiens_hsa01200	0.68362097
57	Amphetamine addiction_Homo sapiens_hsa05031	0.62103247
58	Other glycan degradation_Homo sapiens_hsa00511	0.60260064
59	Glycerolipid metabolism_Homo sapiens_hsa00561	0.60187534
60	Nitrogen metabolism_Homo sapiens_hsa00910	0.58619642
61	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.55901016
62	Glutamatergic synapse_Homo sapiens_hsa04724	0.53800348
63	Fructose and mannose metabolism_Homo sapiens_hsa00051	0.53344894
64	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	0.51455170
65	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.51218046
66	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.50835905
67	Renin-angiotensin system_Homo sapiens_hsa04614	0.50769126
68	Glucagon signaling pathway_Homo sapiens_hsa04922	0.49638002
69	Carbohydrate digestion and absorption_Homo sapiens_hsa04973	0.49546488
70	Cocaine addiction_Homo sapiens_hsa05030	0.48631224
71	GABAergic synapse_Homo sapiens_hsa04727	0.48415063
72	Glycosaminoglycan degradation_Homo sapiens_hsa00531	0.48400630
73	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	0.48365341
74	Long-term potentiation_Homo sapiens_hsa04720	0.47411313
75	Insulin secretion_Homo sapiens_hsa04911	0.47324609
76	Sulfur relay system_Homo sapiens_hsa04122	0.40591772
77	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.39819620
78	Sphingolipid metabolism_Homo sapiens_hsa00600	0.34981379
79	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	0.34755001
80	Lysine degradation_Homo sapiens_hsa00310	0.33660906
81	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.29534533
82	Sulfur metabolism_Homo sapiens_hsa00920	0.29441845
83	Insulin resistance_Homo sapiens_hsa04931	0.29334405
84	Dopaminergic synapse_Homo sapiens_hsa04728	0.28392665
85	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.28103193
86	Galactose metabolism_Homo sapiens_hsa00052	0.28083818
87	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.27110771
88	Adipocytokine signaling pathway_Homo sapiens_hsa04920	0.26380654
89	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.26009998
90	Metabolic pathways_Homo sapiens_hsa01100	0.25755725
91	AMPK signaling pathway_Homo sapiens_hsa04152	0.24207058
92	Circadian entrainment_Homo sapiens_hsa04713	0.23849224
93	Gastric acid secretion_Homo sapiens_hsa04971	0.23526218
94	Pertussis_Homo sapiens_hsa05133	0.23018706
95	Renin secretion_Homo sapiens_hsa04924	0.22628821
96	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.19346408
97	Fatty acid elongation_Homo sapiens_hsa00062	0.18292675
98	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.14292316
99	Estrogen signaling pathway_Homo sapiens_hsa04915	0.14126343
100	Protein digestion and absorption_Homo sapiens_hsa04974	0.13785006

C2ORF72

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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