ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	regulation of cholesterol esterification (GO:0010872)	8.25807916
2	plasma lipoprotein particle assembly (GO:0034377)	8.02874653
3	negative regulation of fibrinolysis (GO:0051918)	7.65504307
4	protein carboxylation (GO:0018214)	7.23379684
5	peptidyl-glutamic acid carboxylation (GO:0017187)	7.23379684
6	protein-lipid complex assembly (GO:0065005)	7.20127505
7	regulation of fibrinolysis (GO:0051917)	7.11297082
8	very-low-density lipoprotein particle assembly (GO:0034379)	6.93266545
9	cholesterol efflux (GO:0033344)	6.86364560
10	high-density lipoprotein particle remodeling (GO:0034375)	6.84991654
11	phospholipid efflux (GO:0033700)	6.76015963
12	regulation of protein activation cascade (GO:2000257)	6.74177323
13	protein-lipid complex remodeling (GO:0034368)	6.50796414
14	macromolecular complex remodeling (GO:0034367)	6.50796414
15	plasma lipoprotein particle remodeling (GO:0034369)	6.50796414
16	reverse cholesterol transport (GO:0043691)	6.39001476
17	regulation of complement activation (GO:0030449)	6.29518181
18	intestinal cholesterol absorption (GO:0030299)	6.04574866
19	blood coagulation, intrinsic pathway (GO:0007597)	5.92655750
20	plasma lipoprotein particle clearance (GO:0034381)	5.81323446
21	plasma lipoprotein particle organization (GO:0071827)	5.78230581
22	low-density lipoprotein particle remodeling (GO:0034374)	5.77264548
23	negative regulation of sterol transport (GO:0032372)	5.70168773
24	negative regulation of cholesterol transport (GO:0032375)	5.70168773
25	triglyceride-rich lipoprotein particle remodeling (GO:0034370)	5.48264135
26	protein-lipid complex subunit organization (GO:0071825)	5.46710565
27	negative regulation of lipase activity (GO:0060192)	5.44072427
28	erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)	5.43802174
29	L-phenylalanine catabolic process (GO:0006559)	5.43802174
30	regulation of plasminogen activation (GO:0010755)	5.07689010
31	complement activation, alternative pathway (GO:0006957)	5.07446397
32	erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)	5.00986053
33	L-phenylalanine metabolic process (GO:0006558)	5.00986053
34	regulation of bile acid biosynthetic process (GO:0070857)	4.92073775
35	phospholipid homeostasis (GO:0055091)	4.72711952
36	negative regulation of protein activation cascade (GO:2000258)	4.63279890
37	intestinal absorption (GO:0050892)	4.62807247
38	acylglycerol homeostasis (GO:0055090)	4.62069109
39	triglyceride homeostasis (GO:0070328)	4.62069109
40	glyoxylate metabolic process (GO:0046487)	4.47934638
41	fibrinolysis (GO:0042730)	4.47519758
42	cholesterol homeostasis (GO:0042632)	4.37507450
43	regulation of cytokine secretion involved in immune response (GO:0002739)	4.31684643
44	sterol homeostasis (GO:0055092)	4.31463820
45	positive regulation of lipoprotein lipase activity (GO:0051006)	4.28858504
46	positive regulation of triglyceride lipase activity (GO:0061365)	4.28858504
47	lipoprotein metabolic process (GO:0042157)	4.26165753
48	sterol transport (GO:0015918)	4.22936320
49	cholesterol transport (GO:0030301)	4.22936320
50	regulation of apoptotic cell clearance (GO:2000425)	4.21669392
51	positive regulation of heterotypic cell-cell adhesion (GO:0034116)	4.06435351
52	negative regulation of blood coagulation (GO:0030195)	3.97311497
53	negative regulation of hemostasis (GO:1900047)	3.97311497
54	positive regulation of steroid metabolic process (GO:0045940)	3.85173251
55	negative regulation of complement activation (GO:0045916)	3.77440235
56	bile acid metabolic process (GO:0008206)	3.76948188
57	bile acid biosynthetic process (GO:0006699)	3.76151126
58	urea metabolic process (GO:0019627)	3.73813323
59	acute-phase response (GO:0006953)	3.73179797
60	diacylglycerol metabolic process (GO:0046339)	3.68986930
61	protein activation cascade (GO:0072376)	3.67684765
62	proline metabolic process (GO:0006560)	3.67507072
63	positive regulation of hemostasis (GO:1900048)	3.66572387
64	positive regulation of blood coagulation (GO:0030194)	3.66572387
65	regulation of humoral immune response (GO:0002920)	3.64337830
66	negative regulation of coagulation (GO:0050819)	3.62163903
67	peptidyl-glutamic acid modification (GO:0018200)	3.55126323
68	negative regulation of wound healing (GO:0061045)	3.54146168
69	urea cycle (GO:0000050)	3.52424561
70	negative regulation of sodium ion transport (GO:0010766)	3.52349708
71	regulation of heterotypic cell-cell adhesion (GO:0034114)	3.50428875
72	epoxygenase P450 pathway (GO:0019373)	3.45256470
73	regulation of triglyceride catabolic process (GO:0010896)	3.44960169
74	lipid homeostasis (GO:0055088)	3.42637703
75	glutamate metabolic process (GO:0006536)	3.40285774
76	aromatic amino acid family catabolic process (GO:0009074)	3.37539459
77	positive regulation of coagulation (GO:0050820)	3.37455230
78	nitrogen cycle metabolic process (GO:0071941)	3.36593001
79	regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	3.33166151
80	L-ascorbic acid metabolic process (GO:0019852)	3.31790669
81	serine family amino acid catabolic process (GO:0009071)	3.30968164
82	fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)	3.22966834
83	regulation of cholesterol homeostasis (GO:2000188)	3.21751915
84	positive regulation of extracellular matrix organization (GO:1903055)	3.21057977
85	neutral lipid catabolic process (GO:0046461)	3.18783671
86	acylglycerol catabolic process (GO:0046464)	3.18783671
87	phenylpropanoid metabolic process (GO:0009698)	3.18472672
88	cellular glucuronidation (GO:0052695)	3.16861365
89	positive regulation of fatty acid biosynthetic process (GO:0045723)	3.16828228
90	ethanol oxidation (GO:0006069)	3.14151248
91	regulation of cholesterol transport (GO:0032374)	3.09508845
92	regulation of sterol transport (GO:0032371)	3.09508845
93	uronic acid metabolic process (GO:0006063)	3.06972511
94	glucuronate metabolic process (GO:0019585)	3.06972511
95	complement activation, classical pathway (GO:0006958)	3.04861656
96	response to vitamin A (GO:0033189)	3.00112791
97	acute inflammatory response (GO:0002526)	2.96179818
98	cysteine metabolic process (GO:0006534)	2.93827190
99	drug catabolic process (GO:0042737)	2.93561952
100	glycine metabolic process (GO:0006544)	2.93343696

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	RXR_22158963_ChIP-Seq_LIVER_Mouse	5.91849091
2	EGR1_23403033_ChIP-Seq_LIVER_Mouse	5.32801312
3	PPARA_22158963_ChIP-Seq_LIVER_Mouse	5.14101432
4	LXR_22158963_ChIP-Seq_LIVER_Mouse	4.96631146
5	FOXA2_19822575_ChIP-Seq_HepG2_Human	4.03427565
6	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	3.99150233
7	FOXO1_23066095_ChIP-Seq_LIVER_Mouse	3.41971710
8	HNF4A_19761587_ChIP-ChIP_CACO-2_Human	3.35653994
9	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	3.26077181
10	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	3.20081785
11	NR1I2_20693526_ChIP-Seq_LIVER_Mouse	3.14347876
12	HNF4A_19822575_ChIP-Seq_HepG2_Human	3.14157769
13	PPARG_19300518_ChIP-PET_3T3-L1_Mouse	2.88805155
14	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.68321873
15	THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse	2.51893402
16	PRDM5_23873026_ChIP-Seq_MEFs_Mouse	2.33764800
17	ESR1_15608294_ChIP-ChIP_MCF-7_Human	2.33106037
18	CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human	2.27858029
19	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	2.03611819
20	ESR1_17901129_ChIP-ChIP_LIVER_Mouse	10.0151378
21	TCF4_18268006_ChIP-ChIP_LS174T_Human	1.75213585
22	GATA4_25053715_ChIP-Seq_YYC3_Human	1.67583009
23	SALL4_18804426_ChIP-ChIP_XEN_Mouse	1.65489763
24	TCF7L2_21901280_ChIP-Seq_H4IIE_Rat	1.64963309
25	ESR1_20079471_ChIP-ChIP_T-47D_Human	1.62988026
26	HIF1A_21447827_ChIP-Seq_MCF-7_Human	1.60614238
27	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.57479517
28	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	1.56918837
29	CDX2_20551321_ChIP-Seq_CACO-2_Human	1.52931690
30	CLOCK_20551151_ChIP-Seq_293T_Human	1.51917122
31	CDX2_19796622_ChIP-Seq_MESCs_Mouse	1.49699157
32	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.47859181
33	FOXO3_23340844_ChIP-Seq_DLD1_Human	1.47170930
34	ZNF263_19887448_ChIP-Seq_K562_Human	1.36951669
35	ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse	1.28444189
36	TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.25695225
37	FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.20814731
38	SREBP1_19666523_ChIP-Seq_LIVER_Mouse	1.09671149
39	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.06330641
40	RXRA_24833708_ChIP-Seq_LIVER_Mouse	1.05593766
41	FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human	1.02393062
42	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.01869329
43	SOX2_27498859_Chip-Seq_STOMACH_Mouse	1.01110171
44	GATA6_25053715_ChIP-Seq_YYC3_Human	0.99197466
45	NANOG_18700969_ChIP-ChIP_MESCs_Mouse	0.98955227
46	SREBP2_21459322_ChIP-Seq_LIVER_Mouse	0.93248821
47	NFE2_27457419_Chip-Seq_LIVER_Mouse	0.88800290
48	EOMES_21245162_ChIP-Seq_HESCs_Human	0.87610171
49	KLF5_20875108_ChIP-Seq_MESCs_Mouse	0.85722043
50	EZH2_27294783_Chip-Seq_NPCs_Mouse	0.85605370
51	KAP1_22055183_ChIP-Seq_ESCs_Mouse	0.84943213
52	SMAD1_18555785_Chip-Seq_ESCs_Mouse	0.84851208
53	GATA3_20176728_ChIP-ChIP_TSCs_Mouse	0.82263896
54	NFIB_24661679_ChIP-Seq_LUNG_Mouse	0.82216320
55	ESR2_21235772_ChIP-Seq_MCF-7_Human	0.80183952
56	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	0.79006912
57	SOX2_19829295_ChIP-Seq_ESCs_Human	0.76514845
58	NANOG_19829295_ChIP-Seq_ESCs_Human	0.76514845
59	RARG_19884340_ChIP-ChIP_MEFs_Mouse	0.76376926
60	FLI1_27457419_Chip-Seq_LIVER_Mouse	0.76190739
61	MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human	0.76140632
62	SOX17_20123909_ChIP-Seq_XEN_Mouse	0.76063877
63	ESRRB_18555785_Chip-Seq_ESCs_Mouse	0.75704087
64	FOXA1_25552417_ChIP-Seq_VCAP_Human	0.74970622
65	FOXH1_21741376_ChIP-Seq_EPCs_Human	0.73730282
66	SUZ12_27294783_Chip-Seq_NPCs_Mouse	0.73414276
67	ZFX_18555785_Chip-Seq_ESCs_Mouse	0.72807600
68	RUNX1_27457419_Chip-Seq_LIVER_Mouse	0.72403416
69	POU5F1_16518401_ChIP-PET_MESCs_Mouse	0.72177612
70	CDX2_22108803_ChIP-Seq_LS180_Human	0.71648135
71	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	0.70899960
72	ERA_21632823_ChIP-Seq_H3396_Human	0.69411962
73	CRX_20693478_ChIP-Seq_RETINA_Mouse	0.68788231
74	SOX2_21211035_ChIP-Seq_LN229_Human	0.68670621
75	AR_21909140_ChIP-Seq_LNCAP_Human	0.67645519
76	NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse	0.67618584
77	ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	0.67306897
78	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	0.66786006
79	GATA3_24758297_ChIP-Seq_MCF-7_Human	0.64044127
80	HTT_18923047_ChIP-ChIP_STHdh_Human	0.63995537
81	RAC3_21632823_ChIP-Seq_H3396_Human	0.63988016
82	OCT4_18555785_Chip-Seq_ESCs_Mouse	0.63059181
83	BCAT_22108803_ChIP-Seq_LS180_Human	0.62841773
84	SOX11_22085726_ChIP-Seq_ESNs_Mouse	0.62300105
85	AR_20517297_ChIP-Seq_VCAP_Human	0.62057142
86	IRF1_19129219_ChIP-ChIP_H3396_Human	0.60948881
87	STAT3_19079543_ChIP-ChIP_MESCs_Mouse	0.60812539
88	RAD21_21589869_ChIP-Seq_MESCs_Mouse	0.60780734
89	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	0.60634760
90	TP53_16413492_ChIP-PET_HCT116_Human	0.60082545
91	ER_23166858_ChIP-Seq_MCF-7_Human	0.59346182
92	OCT4_20526341_ChIP-Seq_ESCs_Human	0.58843785
93	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	0.58272958
94	JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse	0.57456163
95	TAF15_26573619_Chip-Seq_HEK293_Human	0.57443502
96	CSB_26484114_Chip-Seq_FIBROBLAST_Human	0.57399128
97	ZNF652_21678463_ChIP-ChIP_ZR75-1_Human	0.56712442
98	AR_21915096_ChIP-Seq_LNCaP-1F5_Human	0.56168083
99	RARA_24833708_ChIP-Seq_LIVER_Mouse	0.56155794
100	RARB_24833708_ChIP-Seq_LIVER_Mouse	0.56044777

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002139_abnormal_hepatobiliary_system	6.66805734
2	MP0005360_urolithiasis	5.89561903
3	MP0005365_abnormal_bile_salt	5.24424198
4	MP0005085_abnormal_gallbladder_physiolo	4.89305034
5	MP0001666_abnormal_nutrient_absorption	4.44545725
6	MP0003195_calcinosis	4.31686184
7	MP0009840_abnormal_foam_cell	4.07837840
8	MP0005451_abnormal_body_composition	4.07694117
9	MP0010329_abnormal_lipoprotein_level	3.58633780
10	MP0003122_maternal_imprinting	3.45743450
11	MP0003868_abnormal_feces_composition	3.33278013
12	MP0008875_abnormal_xenobiotic_pharmacok	3.28033117
13	MP0003191_abnormal_cellular_cholesterol	3.25082534
14	MP0003252_abnormal_bile_duct	2.56826804
15	MP0002138_abnormal_hepatobiliary_system	2.39786673
16	MP0009697_abnormal_copulation	1.95238709
17	MP0003315_abnormal_perineum_morphology	1.87717632
18	MP0002118_abnormal_lipid_homeostasis	1.76250320
19	MP0005332_abnormal_amino_acid	1.74029366
20	MP0000609_abnormal_liver_physiology	1.62632232
21	MP0005410_abnormal_fertilization	1.60696264
22	MP0003123_paternal_imprinting	1.59909505
23	MP0005408_hypopigmentation	1.55433091
24	MP0004019_abnormal_vitamin_homeostasis	1.53648668
25	MP0005058_abnormal_lysosome_morphology	1.49131218
26	MP0006054_spinal_hemorrhage	1.48041300
27	MP0001915_intracranial_hemorrhage	1.44558095
28	MP0002876_abnormal_thyroid_physiology	1.40497027
29	MP0001764_abnormal_homeostasis	1.39636142
30	MP0003950_abnormal_plasma_membrane	1.37492071
31	MP0003567_abnormal_fetal_cardiomyocyte	1.35858345
32	MP0002089_abnormal_postnatal_growth/wei	1.26354230
33	MP0000604_amyloidosis	1.20214987
34	MP0005367_renal/urinary_system_phenotyp	1.18929365
35	MP0000516_abnormal_urinary_system	1.18929365
36	MP0000639_abnormal_adrenal_gland	1.18045911
37	MP0000566_synostosis	1.15499643
38	MP0004272_abnormal_basement_membrane	1.13186445
39	MP0000598_abnormal_liver_morphology	1.11077118
40	MP0003806_abnormal_nucleotide_metabolis	1.06105862
41	MP0002132_abnormal_respiratory_system	1.05655484
42	MP0009384_cardiac_valve_regurgitation	1.05175797
43	MP0003011_delayed_dark_adaptation	0.99277597
44	MP0004264_abnormal_extraembryonic_tissu	0.97421575
45	MP0005464_abnormal_platelet_physiology	0.97364290
46	MP0003941_abnormal_skin_development	0.95978946
47	MP0005084_abnormal_gallbladder_morpholo	0.95299455
48	MP0008004_abnormal_stomach_pH	0.93337837
49	MP0003121_genomic_imprinting	0.91002819
50	MP0003890_abnormal_embryonic-extraembry	0.88324676
51	MP0001661_extended_life_span	0.85752316
52	MP0010368_abnormal_lymphatic_system	0.85093693
53	MP0005636_abnormal_mineral_homeostasis	0.83448579
54	MP0003172_abnormal_lysosome_physiology	0.82188602
55	MP0009642_abnormal_blood_homeostasis	0.80368442
56	MP0003385_abnormal_body_wall	0.80049710
57	MP0009780_abnormal_chondrocyte_physiolo	0.76513526
58	MP0005551_abnormal_eye_electrophysiolog	0.72248031
59	MP0005319_abnormal_enzyme/_coenzyme	0.70674688
60	MP0002160_abnormal_reproductive_system	0.69416073
61	MP0003718_maternal_effect	0.68193137
62	MP0005395_other_phenotype	0.68085646
63	MP0004883_abnormal_blood_vessel	0.67726016
64	MP0002938_white_spotting	0.67216963
65	MP0005670_abnormal_white_adipose	0.66909477
66	MP0000537_abnormal_urethra_morphology	0.65806561
67	MP0001929_abnormal_gametogenesis	0.63410308
68	MP0002090_abnormal_vision	0.62960337
69	MP0002254_reproductive_system_inflammat	0.62480182
70	MP0009643_abnormal_urine_homeostasis	0.62044113
71	MP0005376_homeostasis/metabolism_phenot	0.60505335
72	MP0005167_abnormal_blood-brain_barrier	0.60474557
73	MP0005257_abnormal_intraocular_pressure	0.57959081
74	MP0003698_abnormal_male_reproductive	0.57873576
75	MP0005164_abnormal_response_to	0.57358055
76	MP0003879_abnormal_hair_cell	0.56813818
77	MP0005187_abnormal_penis_morphology	0.55891483
78	MP0002233_abnormal_nose_morphology	0.54993745
79	MP0001324_abnormal_eye_pigmentation	0.54971152
80	MP0001270_distended_abdomen	0.52793214
81	MP0009115_abnormal_fat_cell	0.51448428
82	MP0002161_abnormal_fertility/fecundity	0.50484496
83	MP0008260_abnormal_autophagy	0.49700196
84	MP0003943_abnormal_hepatobiliary_system	0.49549605
85	MP0005220_abnormal_exocrine_pancreas	0.49242073
86	MP0003699_abnormal_female_reproductive	0.49173695
87	MP0005647_abnormal_sex_gland	0.47270913
88	MP0003953_abnormal_hormone_level	0.47141568
89	MP0006292_abnormal_olfactory_placode	0.46429668
90	MP0003942_abnormal_urinary_system	0.44100289
91	MP0003183_abnormal_peptide_metabolism	0.43563010
92	MP0000653_abnormal_sex_gland	0.42712639
93	MP0002078_abnormal_glucose_homeostasis	0.42007475
94	MP0002168_other_aberrant_phenotype	0.41184521
95	MP0005409_darkened_coat_color	0.40943731
96	MP0002282_abnormal_trachea_morphology	0.39569360
97	MP0002128_abnormal_blood_circulation	0.39390808
98	MP0005379_endocrine/exocrine_gland_phen	0.38789410
99	MP0009672_abnormal_birth_weight	0.37881339
100	MP0002697_abnormal_eye_size	0.37770907

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Prolonged partial thromboplastin time (HP:0003645)	8.18975116
2	Hypobetalipoproteinemia (HP:0003563)	6.90072838
3	Joint hemorrhage (HP:0005261)	6.13750023
4	Hypolipoproteinemia (HP:0010981)	5.82310412
5	Abnormality of the common coagulation pathway (HP:0010990)	5.59430478
6	Abnormality of monocarboxylic acid metabolism (HP:0010996)	5.52823554
7	Complement deficiency (HP:0004431)	5.39529082
8	Hypoalphalipoproteinemia (HP:0003233)	5.37983046
9	Spontaneous abortion (HP:0005268)	5.11185735
10	Abnormality of aromatic amino acid family metabolism (HP:0004338)	4.49837840
11	Abnormality of the level of lipoprotein cholesterol (HP:0010979)	4.45879563
12	Xanthomatosis (HP:0000991)	4.33413893
13	Systemic lupus erythematosus (HP:0002725)	4.19188431
14	Intrahepatic cholestasis (HP:0001406)	4.13275814
15	Glomerulonephritis (HP:0000099)	4.06081524
16	Abnormality of complement system (HP:0005339)	3.86817385
17	Hypercholesterolemia (HP:0003124)	3.75256839
18	Menorrhagia (HP:0000132)	3.74437038
19	Epidermoid cyst (HP:0200040)	3.33719244
20	Acanthocytosis (HP:0001927)	3.23862843
21	Hemorrhage of the eye (HP:0011885)	3.18647724
22	Gingival bleeding (HP:0000225)	3.13159806
23	Fat malabsorption (HP:0002630)	2.95402001
24	Small epiphyses (HP:0010585)	2.94240060
25	Osteomalacia (HP:0002749)	2.93589616
26	Pancreatic islet-cell hyperplasia (HP:0004510)	2.91783856
27	Hyperglycinemia (HP:0002154)	2.85664500
28	Abnormality of carpal bone ossification (HP:0006257)	2.82769552
29	Vaginal fistula (HP:0004320)	2.82488374
30	Hypoglycemic coma (HP:0001325)	2.80211239
31	Broad alveolar ridges (HP:0000187)	2.77590743
32	Hyperlipoproteinemia (HP:0010980)	2.75741887
33	Retinal atrophy (HP:0001105)	2.70275945
34	Hypophosphatemic rickets (HP:0004912)	2.68846963
35	Amyloidosis (HP:0011034)	2.68399305
36	Abnormality of pyrimidine metabolism (HP:0004353)	2.65060650
37	Conjugated hyperbilirubinemia (HP:0002908)	2.64139776
38	Vascular calcification (HP:0004934)	2.55987442
39	Enlarged kidneys (HP:0000105)	2.50476146
40	Renal cortical cysts (HP:0000803)	2.44398234
41	Purpura (HP:0000979)	2.42640647
42	Abnormality of the intrinsic pathway (HP:0010989)	2.39072801
43	Abnormal tarsal ossification (HP:0008369)	2.37074563
44	Broad palm (HP:0001169)	2.35167065
45	Hepatoblastoma (HP:0002884)	2.33975317
46	Thrombophlebitis (HP:0004418)	2.33904088
47	Generalized aminoaciduria (HP:0002909)	2.33568689
48	Delayed CNS myelination (HP:0002188)	2.30235587
49	Hyperammonemia (HP:0001987)	2.29500833
50	Myocardial infarction (HP:0001658)	2.27032060
51	Cardiovascular calcification (HP:0011915)	2.21164799
52	Abnormality of the nasal septum (HP:0000419)	2.19756765
53	Nephritis (HP:0000123)	2.16936117
54	Rickets (HP:0002748)	2.16228539
55	Abnormality of glutamine family amino acid metabolism (HP:0010902)	2.14898483
56	Hypoplasia of the capital femoral epiphysis (HP:0003090)	2.14898257
57	Abnormal hand bone ossification (HP:0010660)	2.12442767
58	Abnormality of the lumbar spine (HP:0100712)	2.09104895
59	Abnormality of the pancreatic islet cells (HP:0006476)	2.08130320
60	Abnormality of endocrine pancreas physiology (HP:0012093)	2.08130320
61	Proximal tubulopathy (HP:0000114)	2.06809527
62	Gonadal dysgenesis (HP:0000133)	2.06653571
63	Hypoglycemic seizures (HP:0002173)	2.06019455
64	Abnormal delivery (HP:0001787)	2.03198655
65	Reduced antithrombin III activity (HP:0001976)	2.02058190
66	Abnormality of the wing of the ilium (HP:0011867)	2.01215953
67	Arthropathy (HP:0003040)	2.00715779
68	Deep venous thrombosis (HP:0002625)	10.9015290
69	Hepatocellular carcinoma (HP:0001402)	1.99572454
70	Mitral stenosis (HP:0001718)	1.99004138
71	Abnormal ossification of hand bones (HP:0005921)	1.98071084
72	Rectal fistula (HP:0100590)	1.94289853
73	Rectovaginal fistula (HP:0000143)	1.94289853
74	Glycosuria (HP:0003076)	1.93979280
75	Abnormality of urine glucose concentration (HP:0011016)	1.93979280
76	Abnormality of glycine metabolism (HP:0010895)	1.93846836
77	Abnormality of serine family amino acid metabolism (HP:0010894)	1.93846836
78	Increased serum ferritin (HP:0003281)	1.92509298
79	Abnormality of transition element cation homeostasis (HP:0011030)	1.91650039
80	Poikilocytosis (HP:0004447)	1.88526693
81	Anal stenosis (HP:0002025)	1.87279058
82	Irregular epiphyses (HP:0010582)	1.85445090
83	Skin nodule (HP:0200036)	1.84897686
84	Widely patent fontanelles and sutures (HP:0004492)	1.84597558
85	Aplasia/Hypoplasia of the pubic bone (HP:0009104)	1.83127789
86	Facial shape deformation (HP:0011334)	1.81758116
87	Potter facies (HP:0002009)	1.81758116
88	Epiphyseal dysplasia (HP:0002656)	1.81604517
89	Pulmonary embolism (HP:0002204)	1.80797209
90	Abnormality of nucleobase metabolism (HP:0010932)	1.79872732
91	Flared iliac wings (HP:0002869)	1.79771367
92	Abnormality of methionine metabolism (HP:0010901)	1.77987685
93	Abnormality of iron homeostasis (HP:0011031)	1.77307550
94	Abnormality of serum amino acid levels (HP:0003112)	1.76424785
95	Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)	1.75155925
96	Absent epiphyses (HP:0010577)	1.75155925
97	Asymmetry of the thorax (HP:0001555)	1.74404768
98	Periauricular skin pits (HP:0100277)	1.74391102
99	Preauricular pit (HP:0004467)	1.74391102
100	Flat acetabular roof (HP:0003180)	1.72984856

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FGFR4	5.37478101
2	PRKD3	4.39111984
3	TRIM28	4.33443771
4	FGFR3	4.10529406
5	WNK4	3.71948519
6	NEK9	3.47186204
7	AKT3	2.79087005
8	PDK2	2.70667938
9	TYRO3	2.65329605
10	PNCK	2.54332243
11	MET	2.42814194
12	FGFR2	2.10181517
13	FGFR1	1.99753594
14	MAPK13	1.95441153
15	ERN1	1.84685914
16	PIK3CA	1.82005178
17	ICK	1.77660709
18	PDGFRA	1.59549653
19	STK16	1.48566028
20	LATS1	1.47812722
21	GRK1	1.42266878
22	CDK12	1.33329914
23	WNK1	1.26166614
24	MAPKAPK3	1.23486029
25	BMPR1B	1.20873336
26	DDR2	1.13523386
27	PKN2	1.12520912
28	STK38	1.04635692
29	RET	1.03444378
30	PDPK1	1.03001749
31	RIPK1	0.97208009
32	WEE1	0.96393710
33	CDK4	0.94062994
34	MAP3K2	0.92452976
35	EPHA4	0.91943268
36	SCYL2	0.91774386
37	PKN1	0.91645242
38	NLK	0.87277531
39	NTRK3	0.86551880
40	BCR	0.86274505
41	PRKCG	0.85353674
42	TYK2	0.84222943
43	FRK	0.83997552
44	CSNK1E	0.83762154
45	DYRK1B	0.79382926
46	BRD4	0.78554752
47	RPS6KB1	0.77646164
48	PDK1	0.77162756
49	MAPK11	0.76246262
50	PRKAA2	0.74967337
51	ERBB2	0.74452983
52	PBK	0.73225055
53	CDK7	0.72340885
54	STK38L	0.71768284
55	FGR	0.70843107
56	MAP3K1	0.69844117
57	MELK	0.67395227
58	STK39	0.62854031
59	NEK2	0.60887977
60	CHUK	0.60745385
61	SGK1	0.58607047
62	PINK1	0.57534298
63	PRKACG	0.55606141
64	CSNK1D	0.55503740
65	MINK1	0.55209458
66	TGFBR2	0.54839560
67	SIK2	0.54193948
68	CSF1R	0.52417142
69	PRKG1	0.50762915
70	IGF1R	0.49498053
71	NEK1	0.49006799
72	WNK3	0.47133064
73	PRKCZ	0.46578500
74	MAP2K2	0.44625821
75	CSNK2A2	0.43038150
76	FLT3	0.40908955
77	SGK223	0.40234235
78	SGK494	0.40234235
79	LMTK2	0.38523125
80	EPHA2	0.37065799
81	PRKACB	0.36690522
82	PTK6	0.36011838
83	ATM	0.35964567
84	PTK2	0.35645664
85	CSNK2A1	0.35505197
86	MAP3K5	0.33836529
87	PRKD2	0.33446037
88	PRKCB	0.33264715
89	PDGFRB	0.33107504
90	MAPKAPK2	0.32679546
91	SRC	0.29204982
92	STK4	0.27502123
93	INSRR	0.26581521
94	RPS6KA3	0.25943682
95	PLK4	0.25421701
96	MAPK1	0.25324991
97	PRKACA	0.25020530
98	PLK1	0.24769533
99	EIF2AK1	0.22912182
100	PRKAA1	0.22746791

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Complement and coagulation cascades_Homo sapiens_hsa04610	4.76465848
2	Primary bile acid biosynthesis_Homo sapiens_hsa00120	3.77122210
3	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	3.17175331
4	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	3.06694114
5	Fat digestion and absorption_Homo sapiens_hsa04975	2.85324970
6	Arginine biosynthesis_Homo sapiens_hsa00220	2.79771341
7	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	2.40477896
8	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	2.39266915
9	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	2.29590829
10	Retinol metabolism_Homo sapiens_hsa00830	2.22388488
11	Steroid hormone biosynthesis_Homo sapiens_hsa00140	2.22034637
12	Fatty acid degradation_Homo sapiens_hsa00071	2.21095697
13	PPAR signaling pathway_Homo sapiens_hsa03320	2.20227557
14	Vitamin digestion and absorption_Homo sapiens_hsa04977	2.18686721
15	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	2.04712469
16	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	2.00713192
17	Chemical carcinogenesis_Homo sapiens_hsa05204	1.98564451
18	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	1.96055379
19	Phenylalanine metabolism_Homo sapiens_hsa00360	1.92877854
20	Cyanoamino acid metabolism_Homo sapiens_hsa00460	1.76829958
21	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.71986549
22	Histidine metabolism_Homo sapiens_hsa00340	1.71593271
23	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	1.71265374
24	Peroxisome_Homo sapiens_hsa04146	1.69505738
25	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	1.67335972
26	Starch and sucrose metabolism_Homo sapiens_hsa00500	1.64707127
27	Drug metabolism - other enzymes_Homo sapiens_hsa00983	1.64145844
28	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	1.62717400
29	Bile secretion_Homo sapiens_hsa04976	1.61268061
30	Propanoate metabolism_Homo sapiens_hsa00640	1.60046364
31	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.59400958
32	Steroid biosynthesis_Homo sapiens_hsa00100	1.47110145
33	Tyrosine metabolism_Homo sapiens_hsa00350	1.46530740
34	Fatty acid metabolism_Homo sapiens_hsa01212	1.42579037
35	Butanoate metabolism_Homo sapiens_hsa00650	1.37858582
36	Sulfur metabolism_Homo sapiens_hsa00920	1.29116183
37	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	1.27536462
38	Fatty acid biosynthesis_Homo sapiens_hsa00061	1.23490867
39	Sulfur relay system_Homo sapiens_hsa04122	1.23094375
40	Arginine and proline metabolism_Homo sapiens_hsa00330	1.22973186
41	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.19169296
42	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	1.17984056
43	Pyruvate metabolism_Homo sapiens_hsa00620	1.13884475
44	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.13582967
45	Caffeine metabolism_Homo sapiens_hsa00232	1.12709627
46	Other glycan degradation_Homo sapiens_hsa00511	1.08972086
47	Tryptophan metabolism_Homo sapiens_hsa00380	1.08508928
48	Staphylococcus aureus infection_Homo sapiens_hsa05150	1.07450535
49	ABC transporters_Homo sapiens_hsa02010	1.07000720
50	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.06025648
51	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	1.04913380
52	Glycosaminoglycan degradation_Homo sapiens_hsa00531	1.03702649
53	Biosynthesis of amino acids_Homo sapiens_hsa01230	1.02341196
54	beta-Alanine metabolism_Homo sapiens_hsa00410	1.01555701
55	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	1.01506752
56	Fatty acid elongation_Homo sapiens_hsa00062	0.97957216
57	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.89447240
58	Linoleic acid metabolism_Homo sapiens_hsa00591	0.86322436
59	Carbon metabolism_Homo sapiens_hsa01200	0.85963725
60	Renin-angiotensin system_Homo sapiens_hsa04614	0.82072270
61	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	0.79636254
62	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.74440042
63	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.73939481
64	Lysine degradation_Homo sapiens_hsa00310	0.67253042
65	Fructose and mannose metabolism_Homo sapiens_hsa00051	0.66095540
66	Galactose metabolism_Homo sapiens_hsa00052	0.64515231
67	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.63913656
68	One carbon pool by folate_Homo sapiens_hsa00670	0.61238703
69	Glycerolipid metabolism_Homo sapiens_hsa00561	0.55120257
70	Metabolic pathways_Homo sapiens_hsa01100	0.51384050
71	Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141	0.50367952
72	Nitrogen metabolism_Homo sapiens_hsa00910	0.49946977
73	Prion diseases_Homo sapiens_hsa05020	0.49380220
74	Glucagon signaling pathway_Homo sapiens_hsa04922	0.45684619
75	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.43908669
76	Sphingolipid metabolism_Homo sapiens_hsa00600	0.43243472
77	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.41974501
78	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.39655376
79	Glutathione metabolism_Homo sapiens_hsa00480	0.37030840
80	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.33857600
81	African trypanosomiasis_Homo sapiens_hsa05143	0.33251438
82	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.31873155
83	Insulin resistance_Homo sapiens_hsa04931	0.23844907
84	Thyroid hormone synthesis_Homo sapiens_hsa04918	0.22066510
85	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.18453432
86	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.18121930
87	ECM-receptor interaction_Homo sapiens_hsa04512	0.18066201
88	Pertussis_Homo sapiens_hsa05133	0.18021519
89	Mineral absorption_Homo sapiens_hsa04978	0.15450598
90	Adipocytokine signaling pathway_Homo sapiens_hsa04920	0.14364933
91	Protein export_Homo sapiens_hsa03060	0.11815467
92	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.10348797
93	Ether lipid metabolism_Homo sapiens_hsa00565	0.09976208
94	Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524	0.06902155
95	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	0.06329414
96	Selenocompound metabolism_Homo sapiens_hsa00450	0.05092281
97	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.04961562
98	Pentose phosphate pathway_Homo sapiens_hsa00030	-0.0369243
99	Central carbon metabolism in cancer_Homo sapiens_hsa05230	-0.0281646
100	Lysosome_Homo sapiens_hsa04142	-0.0136117

KARSP2

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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