ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	regulation of clathrin-mediated endocytosis (GO:2000369)	9.32883118
2	positive regulation of antigen processing and presentation (GO:0002579)	8.74675025
3	regulation of acrosome reaction (GO:0060046)	7.66226650
4	fusion of sperm to egg plasma membrane (GO:0007342)	7.05819023
5	regulation of antigen processing and presentation (GO:0002577)	7.05376666
6	negative regulation of receptor-mediated endocytosis (GO:0048261)	6.43489765
7	complement activation, alternative pathway (GO:0006957)	5.87500777
8	plasma membrane fusion (GO:0045026)	5.39913328
9	macroautophagy (GO:0016236)	5.15429704
10	sulfur amino acid catabolic process (GO:0000098)	4.89616618
11	regulation of Cdc42 GTPase activity (GO:0043088)	4.56908432
12	fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)	4.38255430
13	valine metabolic process (GO:0006573)	4.10257363
14	regulation of hydrogen peroxide metabolic process (GO:0010310)	3.94654085
15	alpha-linolenic acid metabolic process (GO:0036109)	3.76453389
16	GPI anchor biosynthetic process (GO:0006506)	3.75519531
17	response to misfolded protein (GO:0051788)	3.72534415
18	GPI anchor metabolic process (GO:0006505)	3.49761360
19	low-density lipoprotein particle clearance (GO:0034383)	3.44522939
20	cellular sodium ion homeostasis (GO:0006883)	3.35399065
21	regulation of calcium ion-dependent exocytosis (GO:0017158)	3.33505854
22	cytolysis (GO:0019835)	3.32722250
23	regulation of hydrogen peroxide-induced cell death (GO:1903205)	3.30731186
24	negative regulation of endocytosis (GO:0045806)	3.26393343
25	regulation of complement activation (GO:0030449)	3.25255159
26	triglyceride catabolic process (GO:0019433)	3.18790417
27	negative regulation of metanephros development (GO:0072217)	3.15646779
28	mannose metabolic process (GO:0006013)	3.13802972
29	brown fat cell differentiation (GO:0050873)	3.13312154
30	response to nitrosative stress (GO:0051409)	3.11867814
31	positive regulation of cellular response to oxidative stress (GO:1900409)	3.11146892
32	positive regulation of response to oxidative stress (GO:1902884)	3.11146892
33	regulation of epithelial cell differentiation involved in kidney development (GO:2000696)	3.09178836
34	regulation of protein activation cascade (GO:2000257)	3.07712700
35	neutral lipid catabolic process (GO:0046461)	2.98703445
36	acylglycerol catabolic process (GO:0046464)	2.98703445
37	phospholipid homeostasis (GO:0055091)	2.98445558
38	ethanol oxidation (GO:0006069)	2.98243019
39	white fat cell differentiation (GO:0050872)	2.96989662
40	misfolded or incompletely synthesized protein catabolic process (GO:0006515)	2.93371567
41	xenobiotic catabolic process (GO:0042178)	2.91336060
42	respiratory burst (GO:0045730)	2.90884762
43	positive regulation of receptor biosynthetic process (GO:0010870)	2.85611538
44	positive regulation of sterol transport (GO:0032373)	2.75489886
45	positive regulation of cholesterol transport (GO:0032376)	2.75489886
46	oxaloacetate metabolic process (GO:0006107)	2.74890743
47	L-serine metabolic process (GO:0006563)	2.72169208
48	regulation of nephron tubule epithelial cell differentiation (GO:0072182)	2.67845158
49	COPI coating of Golgi vesicle (GO:0048205)	2.66133600
50	Golgi transport vesicle coating (GO:0048200)	2.66133600
51	positive regulation of glomerulus development (GO:0090193)	2.64178765
52	negative regulation of protein autophosphorylation (GO:0031953)	2.60805264
53	cysteine metabolic process (GO:0006534)	2.58530109
54	ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:004316	2.57083972
55	* negative regulation of endopeptidase activity (GO:0010951)	2.56893321
56	metanephric nephron tubule development (GO:0072234)	2.48507059
57	metanephric tubule development (GO:0072170)	2.48507059
58	L-serine transport (GO:0015825)	2.47469422
59	sodium ion homeostasis (GO:0055078)	2.46215862
60	* negative regulation of peptidase activity (GO:0010466)	2.44974040
61	regulation of lipoprotein metabolic process (GO:0050746)	2.44299271
62	negative regulation of reactive oxygen species metabolic process (GO:2000378)	2.43400958
63	regulation of cholesterol transport (GO:0032374)	2.42220246
64	regulation of sterol transport (GO:0032371)	2.42220246
65	CDP-diacylglycerol biosynthetic process (GO:0016024)	2.41982341
66	epithelial cell differentiation involved in kidney development (GO:0035850)	2.41933063
67	glycerolipid catabolic process (GO:0046503)	2.41049101
68	fatty acid beta-oxidation (GO:0006635)	2.39234412
69	nerve growth factor signaling pathway (GO:0038180)	2.37944256
70	regulation of receptor biosynthetic process (GO:0010869)	2.35755368
71	regulation of bile acid biosynthetic process (GO:0070857)	2.35547621
72	triglyceride biosynthetic process (GO:0019432)	2.31148121
73	negative regulation of lipase activity (GO:0060192)	2.29420151
74	cellular modified amino acid catabolic process (GO:0042219)	2.28388777
75	metanephric nephron epithelium development (GO:0072243)	2.27399820
76	branched-chain amino acid metabolic process (GO:0009081)	2.23625300
77	2-oxoglutarate metabolic process (GO:0006103)	2.22749025
78	regulation of response to reactive oxygen species (GO:1901031)	2.22257605
79	CDP-diacylglycerol metabolic process (GO:0046341)	2.21945886
80	eye photoreceptor cell differentiation (GO:0001754)	2.21379293
81	photoreceptor cell differentiation (GO:0046530)	2.21379293
82	transcytosis (GO:0045056)	2.20324881
83	complement activation (GO:0006956)	2.20270781
84	positive regulation of fatty acid metabolic process (GO:0045923)	2.20094414
85	collecting duct development (GO:0072044)	2.19792932
86	acylglycerol biosynthetic process (GO:0046463)	2.17813731
87	neutral lipid biosynthetic process (GO:0046460)	2.17813731
88	positive regulation of receptor recycling (GO:0001921)	2.16734176
89	carnitine transmembrane transport (GO:1902603)	2.15598610
90	serine transport (GO:0032329)	2.15141307
91	kynurenine metabolic process (GO:0070189)	2.15061321
92	high-density lipoprotein particle remodeling (GO:0034375)	2.14545957
93	complement activation, classical pathway (GO:0006958)	2.13648016
94	positive regulation of fatty acid biosynthetic process (GO:0045723)	2.11662158
95	toxin transport (GO:1901998)	2.11130814
96	antigen processing and presentation of endogenous peptide antigen (GO:0002483)	19.2447708
97	antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)	19.2447708
98	antigen processing and presentation via MHC class Ib (GO:0002475)	18.1574724
99	regulation of antigen processing and presentation of peptide antigen (GO:0002583)	17.1260819
100	antigen processing and presentation of endogenous antigen (GO:0019883)	16.0704775

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	PPARG_19300518_ChIP-PET_3T3-L1_Mouse	5.31778745
2	IGF1R_20145208_ChIP-Seq_DFB_Human	3.69292344
3	ESR1_21235772_ChIP-Seq_MCF-7_Human	2.76567094
4	AR_21572438_ChIP-Seq_LNCaP_Human	2.76229328
5	TRIM28_21343339_ChIP-Seq_HEK293_Human	2.70415938
6	ESR1_17901129_ChIP-ChIP_LIVER_Mouse	2.61851740
7	MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human	2.42571692
8	CLOCK_20551151_ChIP-Seq_293T_Human	2.26729728
9	ZNF263_19887448_ChIP-Seq_K562_Human	2.24326824
10	ESR2_21235772_ChIP-Seq_MCF-7_Human	2.15822492
11	LXR_22158963_ChIP-Seq_LIVER_Mouse	2.06388667
12	GATA1_22025678_ChIP-Seq_K562_Human	12.2987037
13	RXR_22158963_ChIP-Seq_LIVER_Mouse	1.84373643
14	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.74257009
15	LXR_22292898_ChIP-Seq_THP-1_Human	1.64004822
16	ZNF274_21170338_ChIP-Seq_K562_Hela	1.58336615
17	PPARA_22158963_ChIP-Seq_LIVER_Mouse	1.54758115
18	MYC_19915707_ChIP-ChIP_AK7_Human	1.39841952
19	NR1I2_20693526_ChIP-Seq_LIVER_Mouse	1.39797478
20	ESR1_22446102_ChIP-Seq_UTERUS_Mouse	1.38377129
21	TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.37330727
22	VDR_24787735_ChIP-Seq_THP-1_Human	1.33350771
23	DNAJC2_21179169_ChIP-ChIP_NT2_Human	1.32249902
24	TCF7L2_21901280_ChIP-Seq_H4IIE_Rat	1.28775919
25	IKZF1_21737484_ChIP-ChIP_HCT116_Human	1.27376870
26	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.24294130
27	SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse	1.24136682
28	SOX2_20726797_ChIP-Seq_SW620_Human	1.23482907
29	ELK4_26923725_Chip-Seq_MESODERM_Mouse	1.23325142
30	CDX2_19796622_ChIP-Seq_MESCs_Mouse	1.23007716
31	WDR5_24793694_ChIP-Seq_LNCAP_Human	1.22471911
32	SOX2_27498859_Chip-Seq_STOMACH_Mouse	1.18138715
33	SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse	1.17920455
34	TP63_17297297_ChIP-ChIP_HaCaT_Human	1.17100658
35	ELF1_20517297_ChIP-Seq_JURKAT_Human	1.15404916
36	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.15190162
37	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.14773448
38	SUZ12_18974828_ChIP-Seq_MESCs_Mouse	1.12065935
39	TFAP2C_20629094_ChIP-Seq_MCF-7_Human	1.10678908
40	CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.09618481
41	FOXO1_23066095_ChIP-Seq_LIVER_Mouse	1.09223462
42	TAF15_26573619_Chip-Seq_HEK293_Human	1.08947069
43	STAT1_17558387_ChIP-Seq_HELA_Human	1.07113290
44	SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse	1.06917383
45	EP300_21415370_ChIP-Seq_HL-1_Mouse	1.05385470
46	FOXO3_23340844_ChIP-Seq_DLD1_Human	1.05374550
47	KAP1_22055183_ChIP-Seq_ESCs_Mouse	1.04789889
48	RNF2_18974828_ChIP-Seq_MESCs_Mouse	1.03312019
49	EZH2_18974828_ChIP-Seq_MESCs_Mouse	1.03312019
50	Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse	1.02903630
51	BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human	1.00415534
52	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	0.97774105
53	NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human	0.95407309
54	TBX20_22080862_ChIP-Seq_HEART_Mouse	0.93663400
55	TBX20_22328084_ChIP-Seq_HEART_Mouse	0.93663400
56	PPAR_26484153_Chip-Seq_NCI-H1993_Human	0.92679896
57	TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse	0.92010117
58	* AR_21915096_ChIP-Seq_LNCaP-1F5_Human	0.90242266
59	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	0.89004666
60	OCT4_20526341_ChIP-Seq_ESCs_Human	0.88357958
61	BMI1_19503595_ChIP-Seq_MEFsC_Mouse	0.87631303
62	STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse	0.87370839
63	SUZ12_20075857_ChIP-Seq_MESCs_Mouse	0.87083510
64	SUZ12_18692474_ChIP-Seq_MEFs_Mouse	0.86008058
65	ZNF217_24962896_ChIP-Seq_MCF-7_Human	0.85930427
66	NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human	0.85418088
67	NR3C1_23031785_ChIP-Seq_PC12_Mouse	0.83643256
68	SALL4_18804426_ChIP-ChIP_XEN_Mouse	0.82605518
69	AHR_22903824_ChIP-Seq_MCF-7_Human	0.81994175
70	SMAD4_21741376_ChIP-Seq_HESCs_Human	0.81356818
71	KDM2B_26808549_Chip-Seq_K562_Human	0.81058565
72	PIAS1_25552417_ChIP-Seq_VCAP_Human	0.79829063
73	SMAD4_21741376_ChIP-Seq_EPCs_Human	0.79613749
74	THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse	0.79277850
75	PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse	0.79033028
76	SMAD_19615063_ChIP-ChIP_OVARY_Human	0.78877373
77	GATA3_20176728_ChIP-ChIP_TSCs_Mouse	0.78118909
78	RUNX2_24764292_ChIP-Seq_MC3T3_Mouse	0.77873007
79	ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	0.77851850
80	TP63_23658742_ChIP-Seq_EP156T_Human	0.77791774
81	GATA1_19941826_ChIP-Seq_K562_Human	0.77783751
82	MTF2_20144788_ChIP-Seq_MESCs_Mouse	0.77559613
83	OCT1_27270436_Chip-Seq_PROSTATE_Human	0.76866182
84	CEBPB_26923725_Chip-Seq_MESODERM_Mouse	0.76548818
85	GATA2_19941826_ChIP-Seq_K562_Human	0.76455048
86	CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse	0.75597431
87	* CEBPB_22108803_ChIP-Seq_LS180_Human	0.74132125
88	IRF1_21803131_ChIP-Seq_MONOCYTES_Human	0.73828179
89	FOXH1_21741376_ChIP-Seq_ESCs_Human	0.73506578
90	ARNT_22903824_ChIP-Seq_MCF-7_Human	0.73068241
91	TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	0.72974646
92	* FOXA1_27270436_Chip-Seq_PROSTATE_Human	0.72895295
93	* FOXA1_25329375_ChIP-Seq_VCAP_Human	0.72895295
94	FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse	0.72523951
95	* CSB_26484114_Chip-Seq_FIBROBLAST_Human	0.72501820
96	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	0.71961313
97	CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse	0.70943427
98	P63_26484246_Chip-Seq_KERATINOCYTES_Human	0.70668424
99	RXRA_24833708_ChIP-Seq_LIVER_Mouse	0.70417482
100	FOXH1_21741376_ChIP-Seq_EPCs_Human	0.70373885

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0005058_abnormal_lysosome_morphology	6.24513738
2	MP0002139_abnormal_hepatobiliary_system	4.32379203
3	MP0005670_abnormal_white_adipose	3.77306873
4	MP0003705_abnormal_hypodermis_morpholog	3.00706497
5	MP0003195_calcinosis	2.95596598
6	MP0005666_abnormal_adipose_tissue	2.67026715
7	MP0008438_abnormal_cutaneous_collagen	2.62214014
8	MP0010329_abnormal_lipoprotein_level	2.62203642
9	MP0004130_abnormal_muscle_cell	2.60302224
10	MP0003191_abnormal_cellular_cholesterol	2.50707164
11	MP0005375_adipose_tissue_phenotype	2.42645936
12	MP0005360_urolithiasis	2.40074947
13	MP0005365_abnormal_bile_salt	2.32095736
14	MP0004185_abnormal_adipocyte_glucose	2.18107070
15	MP0002254_reproductive_system_inflammat	2.13027480
16	MP0003300_gastrointestinal_ulcer	2.12405627
17	MP0000003_abnormal_adipose_tissue	2.11555500
18	MP0002876_abnormal_thyroid_physiology	1.92384671
19	MP0003806_abnormal_nucleotide_metabolis	1.89960589
20	MP0002837_dystrophic_cardiac_calcinosis	1.82719735
21	MP0002118_abnormal_lipid_homeostasis	1.81882610
22	MP0003690_abnormal_glial_cell	1.74362430
23	MP0001501_abnormal_sleep_pattern	1.72092875
24	MP0005085_abnormal_gallbladder_physiolo	1.70612025
25	MP0004019_abnormal_vitamin_homeostasis	1.67303561
26	MP0005275_abnormal_skin_tensile	1.59401392
27	MP0004858_abnormal_nervous_system	1.57938680
28	MP0009763_increased_sensitivity_to	1.56010382
29	MP0010234_abnormal_vibrissa_follicle	1.52788985
30	MP0002138_abnormal_hepatobiliary_system	1.52295370
31	MP0009643_abnormal_urine_homeostasis	1.47574595
32	MP0003566_abnormal_cell_adhesion	1.46223456
33	MP0002971_abnormal_brown_adipose	1.46146600
34	MP0004272_abnormal_basement_membrane	1.43935244
35	MP0003075_altered_response_to	1.43894011
36	MP0009780_abnormal_chondrocyte_physiolo	1.41474921
37	MP0005332_abnormal_amino_acid	1.40312090
38	MP0003252_abnormal_bile_duct	1.36591607
39	MP0009115_abnormal_fat_cell	1.36407607
40	MP0000609_abnormal_liver_physiology	1.34604338
41	MP0005334_abnormal_fat_pad	1.33295778
42	MP0001756_abnormal_urination	1.32293457
43	MP0001765_abnormal_ion_homeostasis	1.26817881
44	MP0005584_abnormal_enzyme/coenzyme_acti	1.24682443
45	MP0003656_abnormal_erythrocyte_physiolo	1.21692823
46	MP0001764_abnormal_homeostasis	1.16663273
47	MP0000685_abnormal_immune_system	1.16093810
48	MP0008875_abnormal_xenobiotic_pharmacok	1.15433322
49	MP0003045_fibrosis	1.14159889
50	MP0005535_abnormal_body_temperature	1.13142965
51	MP0004043_abnormal_pH_regulation	1.12204129
52	MP0005636_abnormal_mineral_homeostasis	1.07919276
53	MP0008995_early_reproductive_senescence	1.07055891
54	MP0001666_abnormal_nutrient_absorption	1.06002903
55	MP0000751_myopathy	1.02442946
56	MP0000604_amyloidosis	1.01260603
57	MP0002909_abnormal_adrenal_gland	1.01221248
58	MP0002796_impaired_skin_barrier	0.99027938
59	MP0003186_abnormal_redox_activity	0.98125242
60	MP0003172_abnormal_lysosome_physiology	0.97039771
61	MP0000013_abnormal_adipose_tissue	0.96862918
62	MP0003959_abnormal_lean_body	0.96858948
63	MP0003950_abnormal_plasma_membrane	0.95139789
64	MP0002136_abnormal_kidney_physiology	0.92094055
65	MP0002295_abnormal_pulmonary_circulatio	0.91267092
66	MP0010386_abnormal_urinary_bladder	0.89917119
67	MP0000467_abnormal_esophagus_morphology	0.87476135
68	MP0004885_abnormal_endolymph	0.87412254
69	MP0005319_abnormal_enzyme/_coenzyme	0.87256653
70	MP0001177_atelectasis	0.85925919
71	MP0002078_abnormal_glucose_homeostasis	0.85316723
72	MP0002970_abnormal_white_adipose	0.84937599
73	MP0003283_abnormal_digestive_organ	0.82620458
74	MP0004947_skin_inflammation	0.82429958
75	MP0004264_abnormal_extraembryonic_tissu	0.81429161
76	MP0005167_abnormal_blood-brain_barrier	0.81411341
77	MP0008004_abnormal_stomach_pH	0.81068171
78	MP0001958_emphysema	0.80135966
79	MP0005448_abnormal_energy_balance	0.79453443
80	MP0001533_abnormal_skeleton_physiology	0.79332391
81	MP0002693_abnormal_pancreas_physiology	0.79283228
82	MP0003879_abnormal_hair_cell	0.78963309
83	MP0002234_abnormal_pharynx_morphology	0.77937782
84	MP0005377_hearing/vestibular/ear_phenot	0.77491283
85	MP0003878_abnormal_ear_physiology	0.77491283
86	MP0001661_extended_life_span	0.77070522
87	MP0006138_congestive_heart_failure	0.76495973
88	MP0001853_heart_inflammation	0.76309073
89	MP0002168_other_aberrant_phenotype	0.76074635
90	MP0010352_gastrointestinal_tract_polyps	0.73994835
91	MP0005164_abnormal_response_to	0.73855300
92	MP0000230_abnormal_systemic_arterial	0.71171547
93	MP0003724_increased_susceptibility_to	0.69992387
94	MP0003329_amyloid_beta_deposits	0.66378810
95	MP0003183_abnormal_peptide_metabolism	0.65727922
96	MP0008872_abnormal_physiological_respon	0.65343589
97	MP0002229_neurodegeneration	0.64016108
98	MP0008961_abnormal_basal_metabolism	0.63569019
99	MP0004270_analgesia	0.62819639
100	MP0008775_abnormal_heart_ventricle	0.62796447

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Choroideremia (HP:0001139)	8.17971947
2	Abnormality of the fovea (HP:0000493)	7.24867800
3	Complement deficiency (HP:0004431)	6.74100266
4	Abnormal rod and cone electroretinograms (HP:0008323)	6.51667851
5	Vacuolated lymphocytes (HP:0001922)	6.39267343
6	Bony spicule pigmentary retinopathy (HP:0007737)	5.53655425
7	Hand muscle atrophy (HP:0009130)	5.08604430
8	Recurrent gram-negative bacterial infections (HP:0005420)	4.90374640
9	Abnormality of complement system (HP:0005339)	4.89951182
10	11 pairs of ribs (HP:0000878)	4.74228867
11	Metaphyseal cupping (HP:0003021)	4.58293609
12	Hypopigmentation of the fundus (HP:0007894)	4.57100097
13	Action tremor (HP:0002345)	4.40199271
14	Stridor (HP:0010307)	4.28820357
15	Upper limb amyotrophy (HP:0009129)	4.24986389
16	Distal upper limb amyotrophy (HP:0007149)	4.24986389
17	Facial diplegia (HP:0001349)	3.83026405
18	Diaphragmatic weakness (HP:0009113)	3.80681044
19	Vascular calcification (HP:0004934)	3.76432567
20	Neurofibrillary tangles (HP:0002185)	3.72596072
21	Potter facies (HP:0002009)	3.68055107
22	Facial shape deformation (HP:0011334)	3.68055107
23	Cardiovascular calcification (HP:0011915)	3.52192731
24	Missing ribs (HP:0000921)	3.43028970
25	Intention tremor (HP:0002080)	3.42311651
26	Cerebral inclusion bodies (HP:0100314)	3.40215605
27	Hyperglycinuria (HP:0003108)	3.25955150
28	Abnormality of the calcaneus (HP:0008364)	3.16405237
29	Hyperphosphatemia (HP:0002905)	3.15706284
30	Dysostosis multiplex (HP:0000943)	3.04389449
31	Clumsiness (HP:0002312)	2.91224111
32	Hyperglycinemia (HP:0002154)	2.86230491
33	Abnormality of glycine metabolism (HP:0010895)	2.77478675
34	Abnormality of serine family amino acid metabolism (HP:0010894)	2.77478675
35	Myocardial infarction (HP:0001658)	2.77068985
36	Ankle clonus (HP:0011448)	2.76846553
37	Myopathic facies (HP:0002058)	2.67129093
38	Infantile muscular hypotonia (HP:0008947)	2.65999295
39	Hypoventilation (HP:0002791)	2.59687859
40	Tubulointerstitial fibrosis (HP:0005576)	2.54081100
41	Oligomenorrhea (HP:0000876)	2.53670717
42	Nonprogressive disorder (HP:0003680)	2.50936163
43	Abnormality of macular pigmentation (HP:0008002)	2.47604165
44	Ketoacidosis (HP:0001993)	2.42159096
45	Agitation (HP:0000713)	2.41882750
46	Hemiplegia (HP:0002301)	2.38530285
47	Abnormality of the vocal cords (HP:0008777)	2.36477669
48	Abnormality of macrophages (HP:0004311)	2.34899942
49	Hypertriglyceridemia (HP:0002155)	2.34356693
50	Tongue fasciculations (HP:0001308)	2.33929924
51	Proximal tubulopathy (HP:0000114)	2.32102220
52	Cervical subluxation (HP:0003308)	2.29427557
53	Supranuclear gaze palsy (HP:0000605)	2.28911667
54	Central scotoma (HP:0000603)	2.27681354
55	Muscle fibrillation (HP:0010546)	2.26598776
56	Acanthosis nigricans (HP:0000956)	2.20688604
57	Abnormality of the musculature of the hand (HP:0001421)	2.20155281
58	Urinary glycosaminoglycan excretion (HP:0003541)	2.12954798
59	Mucopolysacchariduria (HP:0008155)	2.12954798
60	Focal segmental glomerulosclerosis (HP:0000097)	2.09148077
61	Degeneration of the lateral corticospinal tracts (HP:0002314)	2.08820187
62	Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)	2.08820187
63	Ectopia lentis (HP:0001083)	2.07197755
64	Systemic lupus erythematosus (HP:0002725)	2.07195986
65	Hypophosphatemic rickets (HP:0004912)	2.03153168
66	Skin nodule (HP:0200036)	2.00947275
67	Subcapsular cataract (HP:0000523)	2.00214462
68	Abnormality of the lumbar spine (HP:0100712)	1.99071583
69	Abnormality of purine metabolism (HP:0004352)	1.98875984
70	Loss of speech (HP:0002371)	1.94652366
71	Abnormality of mucopolysaccharide metabolism (HP:0011020)	1.93991760
72	Abnormality of polysaccharide metabolism (HP:0011012)	1.93991760
73	Abnormality of glycosaminoglycan metabolism (HP:0004371)	1.93991760
74	Restlessness (HP:0000711)	1.90763784
75	Thin ribs (HP:0000883)	1.88768924
76	Pseudobulbar signs (HP:0002200)	1.83781029
77	Ketosis (HP:0001946)	1.81604042
78	Hemorrhage of the eye (HP:0011885)	1.79846618
79	Osteomalacia (HP:0002749)	1.78474019
80	Polar cataract (HP:0010696)	1.76883276
81	Abnormality of sulfur amino acid metabolism (HP:0004339)	1.76083013
82	Growth hormone excess (HP:0000845)	1.74469910
83	Deep venous thrombosis (HP:0002625)	1.72527347
84	Glomerulosclerosis (HP:0000096)	1.71451525
85	Asymmetric growth (HP:0100555)	1.71314053
86	Myokymia (HP:0002411)	1.69087678
87	Thin bony cortex (HP:0002753)	1.68051505
88	Xanthomatosis (HP:0000991)	1.67859899
89	Beaking of vertebral bodies (HP:0004568)	1.67593482
90	Spondylolisthesis (HP:0003302)	1.67024007
91	Mutism (HP:0002300)	1.66763832
92	Cone-rod dystrophy (HP:0000548)	1.66084594
93	Abnormal hemoglobin (HP:0011902)	1.64361697
94	Aortic aneurysm (HP:0004942)	1.63386769
95	Cardiomegaly (HP:0001640)	1.63265739
96	Thyroid-stimulating hormone excess (HP:0002925)	1.60004235
97	Clonus (HP:0002169)	1.58248535
98	Right ventricular cardiomyopathy (HP:0011663)	1.57595750
99	Progressive visual loss (HP:0000529)	1.56831210
100	Intrahepatic cholestasis (HP:0001406)	1.52700788

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	TRIB3	3.97036916
2	SIK1	3.89410295
3	TAOK3	3.88779196
4	WNK4	3.00506187
5	LMTK2	2.97017120
6	MYLK	2.51606165
7	ERN1	2.42994187
8	RIPK4	2.34301287
9	PKN2	2.32695886
10	RIPK1	2.30467153
11	BMX	1.93976907
12	PRKD3	1.93426440
13	FRK	1.82882835
14	CAMK1D	1.81525873
15	TTN	1.79764171
16	EPHB1	1.77502369
17	INSRR	1.71876549
18	DDR2	1.65824626
19	BCKDK	1.60455337
20	LRRK2	1.51015092
21	WNK1	1.44158570
22	MAP2K4	1.41508587
23	RET	1.35528517
24	NTRK1	1.35227601
25	MAP3K4	1.34727124
26	PDGFRA	1.34273159
27	IRAK2	1.28820945
28	CAMK1G	1.27945640
29	FER	1.24629239
30	MST4	1.23242620
31	PAK3	1.22393508
32	FLT3	1.20346233
33	IRAK3	1.18072272
34	AKT3	1.17720881
35	PTK2	1.10718346
36	PAK2	1.09945000
37	LATS1	1.08053320
38	PRKCH	1.04959336
39	PTK6	1.02778915
40	GRK6	1.01634177
41	FGFR4	1.01340301
42	JAK2	0.98881635
43	IRAK1	0.93761767
44	MST1R	0.93608901
45	MET	0.91761301
46	MAP3K2	0.88728454
47	JAK1	0.85277128
48	EPHB2	0.82288760
49	EGFR	0.79275602
50	STK38L	0.75189601
51	PHKG2	0.73863073
52	PHKG1	0.73863073
53	FGFR2	0.71941569
54	LATS2	0.71893704
55	DAPK2	0.70711176
56	MAP2K7	0.69414461
57	PTK2B	0.69115269
58	SRC	0.68834801
59	PRKCZ	0.66354244
60	FYN	0.64521031
61	SGK1	0.61719746
62	MATK	0.60262722
63	PDK2	0.55961747
64	MAP2K1	0.55824721
65	PIK3CG	0.55008581
66	JAK3	0.53879341
67	NTRK3	0.53064135
68	ERBB2	0.52377648
69	ILK	0.51669044
70	SIK2	0.50084249
71	EEF2K	0.49983489
72	PDPK1	0.48545519
73	MAP3K14	0.48324992
74	GRK5	0.46302548
75	KSR2	0.46195656
76	STK38	0.46164683
77	DAPK1	0.45275415
78	PDK1	0.44669872
79	PAK6	0.43651139
80	CDK5	0.43568881
81	SCYL2	0.42995429
82	EPHA3	0.42720895
83	PRKACG	0.42225766
84	PRKCG	0.41893149
85	MAP3K6	0.41173394
86	MINK1	0.41041780
87	INSR	0.40383848
88	TYK2	0.39098667
89	CDK19	0.39032180
90	FGFR3	0.38575809
91	TESK1	0.38521073
92	CDC42BPA	0.38442299
93	DMPK	0.37233381
94	GSK3A	0.37070427
95	ALK	0.36768623
96	CAMKK1	0.36710349
97	PDK4	0.36685062
98	PDK3	0.36685062
99	PRKD1	0.35688923
100	IGF1R	0.35406904

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	3.79762347
2	ABC transporters_Homo sapiens_hsa02010	3.43249438
3	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	3.25172970
4	Sulfur metabolism_Homo sapiens_hsa00920	2.98962277
5	PPAR signaling pathway_Homo sapiens_hsa03320	2.82366478
6	Fatty acid degradation_Homo sapiens_hsa00071	2.76336350
7	Nitrogen metabolism_Homo sapiens_hsa00910	2.72415972
8	Fatty acid metabolism_Homo sapiens_hsa01212	2.68264328
9	Other glycan degradation_Homo sapiens_hsa00511	2.58034212
10	Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923	2.26181564
11	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	2.22904583
12	Glycerolipid metabolism_Homo sapiens_hsa00561	2.10132498
13	Primary bile acid biosynthesis_Homo sapiens_hsa00120	2.08342249
14	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	2.03866805
15	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.99544175
16	Arginine biosynthesis_Homo sapiens_hsa00220	1.77354413
17	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	1.76193569
18	Phenylalanine metabolism_Homo sapiens_hsa00360	1.76047913
19	Tyrosine metabolism_Homo sapiens_hsa00350	1.73432507
20	Propanoate metabolism_Homo sapiens_hsa00640	1.72446252
21	Staphylococcus aureus infection_Homo sapiens_hsa05150	1.66880602
22	Vitamin B6 metabolism_Homo sapiens_hsa00750	1.65608004
23	Prion diseases_Homo sapiens_hsa05020	1.58588992
24	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.55275989
25	Complement and coagulation cascades_Homo sapiens_hsa04610	1.52738980
26	Salivary secretion_Homo sapiens_hsa04970	1.41091080
27	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.37211983
28	Fatty acid biosynthesis_Homo sapiens_hsa00061	1.36859139
29	Fat digestion and absorption_Homo sapiens_hsa04975	1.32749646
30	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	1.30328964
31	Lysosome_Homo sapiens_hsa04142	1.29034481
32	beta-Alanine metabolism_Homo sapiens_hsa00410	1.28756771
33	Vitamin digestion and absorption_Homo sapiens_hsa04977	1.18106693
34	Carbon metabolism_Homo sapiens_hsa01200	1.16796553
35	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	1.11520908
36	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	1.08590203
37	Tryptophan metabolism_Homo sapiens_hsa00380	1.07358145
38	Chemical carcinogenesis_Homo sapiens_hsa05204	1.06915628
39	Peroxisome_Homo sapiens_hsa04146	1.01072850
40	Adipocytokine signaling pathway_Homo sapiens_hsa04920	0.96915127
41	Butanoate metabolism_Homo sapiens_hsa00650	0.94379903
42	Thyroid hormone synthesis_Homo sapiens_hsa04918	0.92637968
43	Pyruvate metabolism_Homo sapiens_hsa00620	0.90714364
44	Renin secretion_Homo sapiens_hsa04924	0.89261203
45	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.80482104
46	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	0.79416688
47	Protein digestion and absorption_Homo sapiens_hsa04974	0.78305589
48	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.78090780
49	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.76328925
50	Bile secretion_Homo sapiens_hsa04976	0.73767924
51	ECM-receptor interaction_Homo sapiens_hsa04512	0.68155296
52	Glutathione metabolism_Homo sapiens_hsa00480	0.66820946
53	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.65892090
54	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.60670656
55	Caffeine metabolism_Homo sapiens_hsa00232	0.60227978
56	Type II diabetes mellitus_Homo sapiens_hsa04930	0.60032946
57	Insulin resistance_Homo sapiens_hsa04931	0.57349648
58	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.53971561
59	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.51777553
60	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.51105857
61	Glycosaminoglycan degradation_Homo sapiens_hsa00531	0.50335552
62	AMPK signaling pathway_Homo sapiens_hsa04152	0.49357871
63	Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141	0.48570010
64	Regulation of autophagy_Homo sapiens_hsa04140	0.47741133
65	Collecting duct acid secretion_Homo sapiens_hsa04966	0.46182957
66	Gastric acid secretion_Homo sapiens_hsa04971	0.45744599
67	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.43021698
68	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.42762086
69	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.42511493
70	Mineral absorption_Homo sapiens_hsa04978	0.39017736
71	Fatty acid elongation_Homo sapiens_hsa00062	0.38307452
72	cAMP signaling pathway_Homo sapiens_hsa04024	0.38094665
73	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.37038755
74	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.36891850
75	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.36259579
76	Pertussis_Homo sapiens_hsa05133	0.35999857
77	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	0.35830505
78	Estrogen signaling pathway_Homo sapiens_hsa04915	0.35141834
79	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.34910742
80	Focal adhesion_Homo sapiens_hsa04510	0.33416304
81	Vibrio cholerae infection_Homo sapiens_hsa05110	0.29425395
82	Sphingolipid metabolism_Homo sapiens_hsa00600	0.28948568
83	Pancreatic secretion_Homo sapiens_hsa04972	0.28001384
84	Pentose phosphate pathway_Homo sapiens_hsa00030	0.27490289
85	Arginine and proline metabolism_Homo sapiens_hsa00330	0.25582614
86	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	0.25402950
87	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.24678865
88	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.24092137
89	Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120	0.23989466
90	Glucagon signaling pathway_Homo sapiens_hsa04922	0.23116693
91	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.22864331
92	Calcium signaling pathway_Homo sapiens_hsa04020	0.21036991
93	Histidine metabolism_Homo sapiens_hsa00340	0.20516291
94	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.18142902
95	Circadian entrainment_Homo sapiens_hsa04713	0.16854728
96	GABAergic synapse_Homo sapiens_hsa04727	0.16636451
97	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.15950482
98	One carbon pool by folate_Homo sapiens_hsa00670	0.14755596
99	Amoebiasis_Homo sapiens_hsa05146	0.14512735
100	Insulin secretion_Homo sapiens_hsa04911	0.13819409

SPINT3

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 »