ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	protein carboxylation (GO:0018214)	7.59488375
2	peptidyl-glutamic acid carboxylation (GO:0017187)	7.59488375
3	urea metabolic process (GO:0019627)	7.50480322
4	urea cycle (GO:0000050)	7.38647061
5	nitrogen cycle metabolic process (GO:0071941)	6.87509208
6	arginine metabolic process (GO:0006525)	6.23732121
7	protein kinase C signaling (GO:0070528)	5.75467034
8	alkaloid metabolic process (GO:0009820)	5.41637057
9	glyoxylate metabolic process (GO:0046487)	5.39221309
10	drug catabolic process (GO:0042737)	4.90634281
11	glutamine family amino acid biosynthetic process (GO:0009084)	4.87726265
12	water-soluble vitamin biosynthetic process (GO:0042364)	4.80263343
13	DNA deamination (GO:0045006)	4.64712315
14	positive regulation of actin cytoskeleton reorganization (GO:2000251)	4.62151300
15	blood coagulation, intrinsic pathway (GO:0007597)	4.60160051
16	regulation of cytokine production involved in inflammatory response (GO:1900015)	4.46338538
17	bile acid biosynthetic process (GO:0006699)	4.46051968
18	transepithelial transport (GO:0070633)	4.42674243
19	mitotic cell cycle arrest (GO:0071850)	4.29446446
20	proteasome assembly (GO:0043248)	4.15767964
21	type B pancreatic cell proliferation (GO:0044342)	4.14956433
22	regulation of phospholipid biosynthetic process (GO:0071071)	4.13637487
23	regulation of skeletal muscle contraction (GO:0014819)	4.06679294
24	GDP-mannose metabolic process (GO:0019673)	4.05053700
25	regulation of fibrinolysis (GO:0051917)	4.02402954
26	oxidative demethylation (GO:0070989)	4.01279937
27	regulation of triglyceride catabolic process (GO:0010896)	3.92266425
28	erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)	3.92095968
29	L-phenylalanine catabolic process (GO:0006559)	3.92095968
30	estrogen biosynthetic process (GO:0006703)	3.88696230
31	exogenous drug catabolic process (GO:0042738)	3.85190466
32	phenylpropanoid metabolic process (GO:0009698)	3.82326154
33	peptidyl-glutamic acid modification (GO:0018200)	3.81580211
34	sulfur amino acid catabolic process (GO:0000098)	3.79550535
35	vitamin biosynthetic process (GO:0009110)	3.78951049
36	negative regulation of cell aging (GO:0090344)	3.78174801
37	negative regulation of fibrinolysis (GO:0051918)	3.71478562
38	glutamate metabolic process (GO:0006536)	3.64349480
39	complement activation, alternative pathway (GO:0006957)	3.63799296
40	regulation of protein activation cascade (GO:2000257)	3.62805042
41	proline metabolic process (GO:0006560)	3.58699031
42	detection of light stimulus involved in visual perception (GO:0050908)	3.56470578
43	detection of light stimulus involved in sensory perception (GO:0050962)	3.56470578
44	erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)	3.55387245
45	L-phenylalanine metabolic process (GO:0006558)	3.55387245
46	bile acid metabolic process (GO:0008206)	3.53151155
47	regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091	3.50881337
48	definitive hemopoiesis (GO:0060216)	3.50630270
49	glucose 6-phosphate metabolic process (GO:0051156)	3.50612738
50	regulation of synapse structural plasticity (GO:0051823)	3.44858547
51	phosphate ion transmembrane transport (GO:0035435)	3.44259582
52	cytidine metabolic process (GO:0046087)	3.43801780
53	cytidine catabolic process (GO:0006216)	3.43801780
54	cytidine deamination (GO:0009972)	3.43801780
55	regulation of lipoprotein particle clearance (GO:0010984)	3.43023118
56	endothelium development (GO:0003158)	3.42950714
57	positive regulation of triglyceride lipase activity (GO:0061365)	3.35054863
58	positive regulation of lipoprotein lipase activity (GO:0051006)	3.35054863
59	regulation of complement activation (GO:0030449)	3.32001982
60	regulation of cellular extravasation (GO:0002691)	3.30605956
61	L-methionine salvage (GO:0071267)	3.29902974
62	L-methionine biosynthetic process (GO:0071265)	3.29902974
63	amino acid salvage (GO:0043102)	3.29902974
64	hair cell differentiation (GO:0035315)	3.27595844
65	heme transport (GO:0015886)	3.26085696
66	fibrinolysis (GO:0042730)	3.23588821
67	high-density lipoprotein particle remodeling (GO:0034375)	3.22165706
68	sterol catabolic process (GO:0016127)	3.21299675
69	cholesterol catabolic process (GO:0006707)	3.21299675
70	iron-sulfur cluster assembly (GO:0016226)	3.13899378
71	metallo-sulfur cluster assembly (GO:0031163)	3.13899378
72	nucleotide transmembrane transport (GO:1901679)	3.13863127
73	positive regulation of megakaryocyte differentiation (GO:0045654)	3.13558504
74	epoxygenase P450 pathway (GO:0019373)	3.12319017
75	base-excision repair, AP site formation (GO:0006285)	3.09092966
76	positive regulation of TOR signaling (GO:0032008)	3.06652380
77	regulation of cholesterol biosynthetic process (GO:0045540)	3.05019784
78	purine ribonucleotide transport (GO:0015868)	3.04788994
79	pyrimidine ribonucleoside catabolic process (GO:0046133)	3.01633117
80	phosphatidylglycerol biosynthetic process (GO:0006655)	2.98756078
81	serine family amino acid catabolic process (GO:0009071)	2.98211595
82	ethanol oxidation (GO:0006069)	2.97195247
83	negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)	2.96458473
84	regulation of hydrogen peroxide metabolic process (GO:0010310)	2.94855475
85	purine deoxyribonucleotide catabolic process (GO:0009155)	2.94172831
86	phosphate ion transport (GO:0006817)	2.93598319
87	regulation of cholesterol metabolic process (GO:0090181)	2.91596118
88	blood vessel maturation (GO:0001955)	2.91545192
89	cellular response to ATP (GO:0071318)	2.90184549
90	DNA damage response, detection of DNA damage (GO:0042769)	2.89325238
91	triglyceride-rich lipoprotein particle remodeling (GO:0034370)	2.88538412
92	regulation of cholesterol esterification (GO:0010872)	2.86515685
93	omega-hydroxylase P450 pathway (GO:0097267)	2.86148744
94	drug metabolic process (GO:0017144)	2.85320484
95	cysteine metabolic process (GO:0006534)	2.84697649
96	iron coordination entity transport (GO:1901678)	2.84461923
97	respiratory chain complex IV assembly (GO:0008535)	2.84173079
98	granulocyte differentiation (GO:0030851)	2.84157707
99	phosphatidylethanolamine metabolic process (GO:0046337)	2.83438818
100	carbohydrate derivative transport (GO:1901264)	2.83128847

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	STAT6_21828071_ChIP-Seq_BEAS2B_Human	3.79200536
2	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	3.63956239
3	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	3.42036104
4	ESR1_17901129_ChIP-ChIP_LIVER_Mouse	3.25359748
5	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	3.04141121
6	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.79045111
7	BCL6_27268052_Chip-Seq_Bcells_Human	2.64598893
8	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.62911896
9	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	2.59244927
10	RXR_22158963_ChIP-Seq_LIVER_Mouse	2.58886419
11	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.56163744
12	EGR1_23403033_ChIP-Seq_LIVER_Mouse	2.52038660
13	VDR_21846776_ChIP-Seq_THP-1_Human	2.36450655
14	PPARA_22158963_ChIP-Seq_LIVER_Mouse	2.28661364
15	XRN2_22483619_ChIP-Seq_HELA_Human	2.22607552
16	PPARG_19300518_ChIP-PET_3T3-L1_Mouse	2.21396346
17	TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse	2.15404736
18	E2F1_20622854_ChIP-Seq_HELA_Human	2.12081717
19	ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse	2.06433179
20	BCOR_27268052_Chip-Seq_Bcells_Human	2.05333329
21	LXR_22292898_ChIP-Seq_THP-1_Human	2.04724654
22	PHF8_20622854_ChIP-Seq_HELA_Human	2.00936083
23	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.96900293
24	P68_20966046_ChIP-Seq_HELA_Human	1.93044132
25	MAF_26560356_Chip-Seq_TH2_Human	1.87443183
26	CTCF_20526341_ChIP-Seq_ESCs_Human	1.85002342
27	ELF1_20517297_ChIP-Seq_JURKAT_Human	1.81911556
28	ZNF652_21678463_ChIP-ChIP_ZR75-1_Human	1.80382758
29	RXRA_24833708_ChIP-Seq_LIVER_Mouse	1.79020536
30	RARB_24833708_ChIP-Seq_LIVER_Mouse	1.78916735
31	CEBPB_24764292_ChIP-Seq_MC3T3_Mouse	1.77688933
32	SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse	1.76572893
33	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.74720171
34	CTCF_21964334_Chip-Seq_Bcells_Human	1.67421800
35	CTCF_27219007_Chip-Seq_ERYTHROID_Human	1.63218266
36	VDR_23849224_ChIP-Seq_CD4+_Human	1.62670083
37	MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human	1.62649044
38	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.62527379
39	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.61178233
40	SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse	1.60927313
41	RARA_24833708_ChIP-Seq_LIVER_Mouse	1.58635427
42	GABP_19822575_ChIP-Seq_HepG2_Human	1.57944955
43	TET1_21451524_ChIP-Seq_MESCs_Mouse	1.57929513
44	FOXO1_23066095_ChIP-Seq_LIVER_Mouse	1.56541978
45	CIITA_25753668_ChIP-Seq_RAJI_Human	1.54741770
46	FOXP1_21924763_ChIP-Seq_HESCs_Human	1.50551800
47	CCND1_20090754_ChIP-ChIP_RETINA_Mouse	1.50421296
48	SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.47454428
49	FLI1_20887958_ChIP-Seq_HPC-7_Mouse	1.47228477
50	CTCF_27219007_Chip-Seq_Bcells_Human	1.43827495
51	SA1_27219007_Chip-Seq_ERYTHROID_Human	1.42537974
52	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.41435843
53	MYC_19829295_ChIP-Seq_ESCs_Human	1.40919872
54	YY1_22570637_ChIP-Seq_MALME-3M_Human	1.40119033
55	DMRT1_21621532_ChIP-ChIP_FETAL_Ovary	1.39891865
56	CTCF_21964334_ChIP-Seq_BJAB-B_Human	1.39574752
57	PU.1_20513432_ChIP-Seq_Bcells_Mouse	1.36724649
58	SMAD2/3_21741376_ChIP-Seq_ESCs_Human	1.35179786
59	ERA_21632823_ChIP-Seq_H3396_Human	1.35143321
60	RBPJ_21746931_ChIP-Seq_IB4-LCL_Human	1.34462000
61	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	1.34363226
62	IKZF1_21737484_ChIP-ChIP_HCT116_Human	1.34246960
63	GATA3_21867929_ChIP-Seq_CD8_Mouse	1.33254312
64	SOX2_21211035_ChIP-Seq_LN229_Human	1.32211335
65	RUNX1_20887958_ChIP-Seq_HPC-7_Mouse	1.30696188
66	SA1_27219007_Chip-Seq_Bcells_Human	1.30117641
67	RARG_19884340_ChIP-ChIP_MEFs_Mouse	1.30087842
68	IRF8_21731497_ChIP-ChIP_J774_Mouse	1.29985188
69	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.29471119
70	MEIS1_20887958_ChIP-Seq_HPC-7_Mouse	1.29360316
71	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	1.29316993
72	DACH1_20351289_ChIP-Seq_MDA-MB-231_Human	1.28143538
73	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.28056471
74	P300_27268052_Chip-Seq_Bcells_Human	1.27413222
75	GATA2_20887958_ChIP-Seq_HPC-7_Mouse	1.24137706
76	DCP1A_22483619_ChIP-Seq_HELA_Human	1.22403512
77	UTX_26944678_Chip-Seq_JUKART_Human	1.22276401
78	CTCF_26484167_Chip-Seq_Bcells_Mouse	1.22051409
79	CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse	1.21340088
80	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.19346225
81	LXR_22158963_ChIP-Seq_LIVER_Mouse	1.19059233
82	ETS1_21867929_ChIP-Seq_TH2_Mouse	1.18824641
83	P53_21459846_ChIP-Seq_SAOS-2_Human	1.17913695
84	JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse	1.17107165
85	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.15909559
86	FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse	1.15755687
87	TAF2_19829295_ChIP-Seq_ESCs_Human	1.15675745
88	RAC3_21632823_ChIP-Seq_H3396_Human	1.15661903
89	PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse	1.14579864
90	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	1.14407720
91	FOXP3_21729870_ChIP-Seq_TREG_Human	1.13384273
92	MAF_26560356_Chip-Seq_TH1_Human	1.13154333
93	NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse	1.10790119
94	PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse	1.10784662
95	IGF1R_20145208_ChIP-Seq_DFB_Human	1.10618464
96	E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human	1.08427017
97	IRF8_22096565_ChIP-ChIP_GC-B_Human	1.08324992
98	SMC3_22415368_ChIP-Seq_MEFs_Mouse	1.06777560
99	MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human	1.03184852
100	BCL3_23251550_ChIP-Seq_MUSCLE_Mouse	1.02770199

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002139_abnormal_hepatobiliary_system	5.61933202
2	MP0008875_abnormal_xenobiotic_pharmacok	4.75274565
3	MP0005365_abnormal_bile_salt	4.47568769
4	MP0005085_abnormal_gallbladder_physiolo	4.20762134
5	MP0005167_abnormal_blood-brain_barrier	4.16776841
6	MP0005360_urolithiasis	3.33069426
7	MP0003806_abnormal_nucleotide_metabolis	3.21518618
8	MP0003868_abnormal_feces_composition	3.16426079
9	MP0001986_abnormal_taste_sensitivity	2.94697294
10	MP0002138_abnormal_hepatobiliary_system	2.84231147
11	MP0005171_absent_coat_pigmentation	2.68841033
12	MP0009697_abnormal_copulation	2.67117834
13	MP0005174_abnormal_tail_pigmentation	2.46042665
14	MP0005409_darkened_coat_color	2.40614380
15	MP0005083_abnormal_biliary_tract	2.31949320
16	MP0005423_abnormal_somatic_nervous	2.28323654
17	MP0003195_calcinosis	2.17924109
18	MP0009840_abnormal_foam_cell	2.07815416
19	MP0001666_abnormal_nutrient_absorption	2.06865580
20	MP0003303_peritoneal_inflammation	2.01063365
21	MP0005058_abnormal_lysosome_morphology	2.00160206
22	MP0010368_abnormal_lymphatic_system	1.90542654
23	MP0003724_increased_susceptibility_to	1.88023193
24	MP0001764_abnormal_homeostasis	1.85210284
25	MP0001968_abnormal_touch/_nociception	1.77845844
26	MP0000751_myopathy	1.77630763
27	MP0003646_muscle_fatigue	1.62248725
28	MP0005410_abnormal_fertilization	1.59959582
29	MP0001661_extended_life_span	1.56106431
30	MP0005332_abnormal_amino_acid	1.52353175
31	MP0003172_abnormal_lysosome_physiology	1.42989092
32	MP0004019_abnormal_vitamin_homeostasis	1.42848191
33	MP0005084_abnormal_gallbladder_morpholo	1.42349738
34	MP0002735_abnormal_chemical_nociception	1.31623742
35	MP0005330_cardiomyopathy	1.26990203
36	MP0004147_increased_porphyrin_level	1.25758858
37	MP0002118_abnormal_lipid_homeostasis	1.23605706
38	MP0002933_joint_inflammation	1.18455775
39	MP0003252_abnormal_bile_duct	1.17779717
40	MP0001529_abnormal_vocalization	1.17448591
41	MP0005253_abnormal_eye_physiology	1.16926874
42	MP0002736_abnormal_nociception_after	1.13268350
43	MP0003718_maternal_effect	1.11872442
44	MP0001873_stomach_inflammation	1.10631602
45	MP0010329_abnormal_lipoprotein_level	1.10331318
46	MP0002160_abnormal_reproductive_system	1.08728299
47	MP0003011_delayed_dark_adaptation	1.07543342
48	MP0009278_abnormal_bone_marrow	1.03521235
49	MP0006276_abnormal_autonomic_nervous	1.01324193
50	MP0000609_abnormal_liver_physiology	1.00011316
51	MP0010386_abnormal_urinary_bladder	0.98256770
52	MP0006036_abnormal_mitochondrial_physio	0.97872406
53	MP0002909_abnormal_adrenal_gland	0.93132233
54	MP0009643_abnormal_urine_homeostasis	0.91855769
55	MP0001756_abnormal_urination	0.91091856
56	MP0009384_cardiac_valve_regurgitation	0.90839576
57	MP0001664_abnormal_digestion	0.89972246
58	MP0005551_abnormal_eye_electrophysiolog	0.88858974
59	MP0008004_abnormal_stomach_pH	0.88487925
60	MP0002638_abnormal_pupillary_reflex	0.86242653
61	MP0003567_abnormal_fetal_cardiomyocyte	0.85795184
62	MP0001919_abnormal_reproductive_system	0.81272498
63	MP0001324_abnormal_eye_pigmentation	0.77934558
64	MP0005584_abnormal_enzyme/coenzyme_acti	0.77743029
65	MP0004782_abnormal_surfactant_physiolog	0.77444531
66	MP0001905_abnormal_dopamine_level	0.77364293
67	MP0008872_abnormal_physiological_respon	0.76170403
68	MP0005397_hematopoietic_system_phenotyp	0.71975376
69	MP0001545_abnormal_hematopoietic_system	0.71975376
70	MP0000465_gastrointestinal_hemorrhage	0.71395934
71	MP0008775_abnormal_heart_ventricle	0.70799698
72	MP0000538_abnormal_urinary_bladder	0.69661766
73	MP0005464_abnormal_platelet_physiology	0.69108107
74	MP0002234_abnormal_pharynx_morphology	0.67001398
75	MP0003879_abnormal_hair_cell	0.66970847
76	MP0004142_abnormal_muscle_tone	0.66846506
77	MP0008873_increased_physiological_sensi	0.66001709
78	MP0001188_hyperpigmentation	0.65036440
79	MP0003136_yellow_coat_color	0.64554259
80	MP0006082_CNS_inflammation	0.62701962
81	MP0003137_abnormal_impulse_conducting	0.62407904
82	MP0001243_abnormal_dermal_layer	0.58322266
83	MP0003119_abnormal_digestive_system	0.57578524
84	MP0000367_abnormal_coat/_hair	0.57316121
85	MP0003448_altered_tumor_morphology	0.57268094
86	MP0000249_abnormal_blood_vessel	0.57232395
87	MP0002928_abnormal_bile_duct	0.56253067
88	MP0000467_abnormal_esophagus_morphology	0.56024492
89	MP0005187_abnormal_penis_morphology	0.55628095
90	MP0009763_increased_sensitivity_to	0.55377213
91	MP0001915_intracranial_hemorrhage	0.55038177
92	MP0001502_abnormal_circadian_rhythm	0.54004395
93	MP0000598_abnormal_liver_morphology	0.53877311
94	MP0005319_abnormal_enzyme/_coenzyme	0.52752151
95	MP0005451_abnormal_body_composition	0.51749035
96	MP0008469_abnormal_protein_level	0.51641986
97	MP0003880_abnormal_central_pattern	0.51324064
98	MP0001663_abnormal_digestive_system	0.51227412
99	MP0005636_abnormal_mineral_homeostasis	0.50884341
100	MP0004885_abnormal_endolymph	0.49963235

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Rib fusion (HP:0000902)	7.02966734
2	Prolonged partial thromboplastin time (HP:0003645)	6.99101362
3	Joint hemorrhage (HP:0005261)	5.58019963
4	Mesangial abnormality (HP:0001966)	5.01483442
5	Popliteal pterygium (HP:0009756)	4.60688025
6	Increased hepatocellular lipid droplets (HP:0006565)	4.43787159
7	Lipid accumulation in hepatocytes (HP:0006561)	4.32200162
8	Aplastic anemia (HP:0001915)	4.20109595
9	Renal Fanconi syndrome (HP:0001994)	4.12892294
10	Testicular atrophy (HP:0000029)	3.98602181
11	Akinesia (HP:0002304)	3.95481689
12	Fetal akinesia sequence (HP:0001989)	3.94311651
13	Abnormality of placental membranes (HP:0011409)	3.90431198
14	Amniotic constriction ring (HP:0009775)	3.90431198
15	Abnormality of the intrinsic pathway (HP:0010989)	3.88423067
16	Increased intramyocellular lipid droplets (HP:0012240)	3.78149067
17	Aplasia of the musculature (HP:0100854)	3.70314906
18	Deep venous thrombosis (HP:0002625)	3.52566729
19	Dyschromatopsia (HP:0007641)	3.52397230
20	Increased muscle lipid content (HP:0009058)	3.48282654
21	Attenuation of retinal blood vessels (HP:0007843)	3.40071687
22	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	3.39060518
23	Hemorrhage of the eye (HP:0011885)	3.35814711
24	Long clavicles (HP:0000890)	3.28858757
25	Facial hemangioma (HP:0000329)	3.23297358
26	Abnormal biliary tract physiology (HP:0012439)	3.22205689
27	Bile duct proliferation (HP:0001408)	3.22205689
28	Hypobetalipoproteinemia (HP:0003563)	3.09396433
29	Abnormality of monocarboxylic acid metabolism (HP:0010996)	3.07618231
30	Reduced antithrombin III activity (HP:0001976)	3.04215792
31	Decreased central vision (HP:0007663)	2.94690641
32	Respiratory distress (HP:0002098)	2.91483741
33	Confusion (HP:0001289)	2.91185815
34	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.82468112
35	Glycosuria (HP:0003076)	2.82336988
36	Abnormality of urine glucose concentration (HP:0011016)	2.82336988
37	Abnormality of aromatic amino acid family metabolism (HP:0004338)	2.79960072
38	Abnormal urine phosphate concentration (HP:0012599)	2.79207536
39	Muscle abnormality related to mitochondrial dysfunction (HP:0003800)	2.75588754
40	Neonatal onset (HP:0003623)	2.75161581
41	Hyperphosphaturia (HP:0003109)	2.74441862
42	Hyperammonemia (HP:0001987)	2.71406202
43	Hyperglycinemia (HP:0002154)	2.68289741
44	Exertional dyspnea (HP:0002875)	2.63462225
45	Generalized aminoaciduria (HP:0002909)	2.62513498
46	Diminished movement (HP:0002374)	2.61807857
47	Abnormality of the common coagulation pathway (HP:0010990)	2.55145248
48	Neonatal respiratory distress (HP:0002643)	2.51617732
49	Vaginal fistula (HP:0004320)	2.45852721
50	Choroideremia (HP:0001139)	2.44954775
51	Chorioretinal atrophy (HP:0000533)	2.42808559
52	Chronic hepatic failure (HP:0100626)	2.35961727
53	Rectovaginal fistula (HP:0000143)	2.35013156
54	Rectal fistula (HP:0100590)	2.35013156
55	Anomalous pulmonary venous return (HP:0010772)	2.34856728
56	Congenital stationary night blindness (HP:0007642)	2.33452972
57	Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)	2.32571238
58	Atrioventricular block (HP:0001678)	2.29932173
59	Hypophosphatemic rickets (HP:0004912)	2.29090482
60	Malignant hyperthermia (HP:0002047)	2.28144295
61	Lower limb hyperreflexia (HP:0002395)	2.28050530
62	Abnormality of renal resorption (HP:0011038)	2.24041706
63	Cholelithiasis (HP:0001081)	2.23163637
64	Epidermoid cyst (HP:0200040)	2.22657835
65	Respiratory difficulties (HP:0002880)	2.18687964
66	Cutaneous melanoma (HP:0012056)	2.11720479
67	Patellar aplasia (HP:0006443)	2.11545546
68	Facial diplegia (HP:0001349)	2.09678460
69	Annular pancreas (HP:0001734)	2.09533001
70	Epiphyseal stippling (HP:0010655)	2.09271261
71	Poikiloderma (HP:0001029)	2.08262238
72	Hypoplasia of the thymus (HP:0000778)	2.08212810
73	Flat occiput (HP:0005469)	2.06577644
74	Complement deficiency (HP:0004431)	2.05542015
75	Abnormal gallbladder morphology (HP:0012437)	2.03900751
76	Aplasia/Hypoplasia involving the musculature (HP:0001460)	2.01980898
77	Abnormal albumin level (HP:0012116)	2.00941743
78	Hypoalbuminemia (HP:0003073)	2.00941743
79	Fused cervical vertebrae (HP:0002949)	1.99224199
80	Abnormality of the pulmonary veins (HP:0011718)	1.98857554
81	Renal tubular dysfunction (HP:0000124)	1.98069702
82	Squamous cell carcinoma (HP:0002860)	1.97691512
83	Widely patent fontanelles and sutures (HP:0004492)	1.96071226
84	Spontaneous abortion (HP:0005268)	1.93971071
85	Turricephaly (HP:0000262)	1.93445164
86	Abnormality of glycine metabolism (HP:0010895)	1.93144499
87	Abnormality of serine family amino acid metabolism (HP:0010894)	1.93144499
88	Abnormality of long-chain fatty-acid metabolism (HP:0010964)	1.92921858
89	Ulnar bowing (HP:0003031)	1.92719343
90	Systemic lupus erythematosus (HP:0002725)	1.91065979
91	Abnormality of fatty-acid metabolism (HP:0004359)	1.90515983
92	Aplasia/Hypoplasia of the patella (HP:0006498)	1.90068821
93	Hypolipoproteinemia (HP:0010981)	1.89186097
94	Hypoplastic heart (HP:0001961)	1.88946879
95	Abnormal epiphyseal ossification (HP:0010656)	1.85614763
96	Intestinal fistula (HP:0100819)	1.85492174
97	Abnormality of midbrain morphology (HP:0002418)	1.83826839
98	Molar tooth sign on MRI (HP:0002419)	1.83826839
99	Conjugated hyperbilirubinemia (HP:0002908)	1.83227784
100	Type I transferrin isoform profile (HP:0003642)	1.81056185

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	MAPK15	3.90905539
2	BCKDK	2.75657579
3	GRK1	2.74436665
4	TESK2	2.46928840
5	EPHB1	2.29204465
6	FES	2.25958592
7	TIE1	12.2348584
8	TEC	1.79656019
9	CCNB1	1.78488989
10	CSK	1.51010761
11	BMPR1B	1.48721546
12	KDR	1.45445612
13	CSNK1G3	1.42036930
14	MUSK	1.40323946
15	MAP4K2	1.35340970
16	MAP3K11	1.30691475
17	SCYL2	1.30489616
18	EPHA4	1.29295887
19	CSNK1A1L	1.27514518
20	MAP2K3	1.25823093
21	TGFBR2	1.24201362
22	ACVR1B	1.19695830
23	CSNK1G1	1.18367150
24	NUAK1	1.16498921
25	VRK2	1.10738827
26	ZAP70	1.10715886
27	STK38L	1.09846699
28	FER	1.03797397
29	CDK8	1.00396097
30	CSNK1G2	0.94677709
31	MAP2K4	0.94068159
32	TAOK3	0.91152601
33	TESK1	0.91011861
34	TGFBR1	0.90469138
35	WNK4	0.84200148
36	ADRBK2	0.79834805
37	MAP2K6	0.79580411
38	BLK	0.78463717
39	MST4	0.71480979
40	CDK15	0.69576138
41	CDK11A	0.69446241
42	CDK18	0.69062016
43	BCR	0.65644168
44	CDK14	0.64698276
45	DAPK2	0.61481378
46	WNK3	0.59990761
47	MATK	0.55490165
48	PDK2	0.52593432
49	TNK2	0.52253322
50	ARAF	0.51187182
51	BMX	0.50759876
52	MAPK11	0.50680988
53	FGR	0.50258576
54	TBK1	0.50157433
55	GRK6	0.50156537
56	DYRK1B	0.49897506
57	PIM2	0.47847627
58	SYK	0.46648515
59	CDK9	0.44155710
60	AKT2	0.40938820
61	MAP4K1	0.40280681
62	ADRBK1	0.40035041
63	PBK	0.38783261
64	PINK1	0.38671693
65	CDK6	0.38315659
66	TRIM28	0.36718238
67	AURKA	0.36232442
68	ATR	0.35866336
69	PAK1	0.34697504
70	BRSK1	0.34127073
71	INSRR	0.33882318
72	MAPK12	0.33669947
73	LIMK1	0.31079157
74	CSNK1D	0.29049397
75	FLT3	0.26682261
76	MAPKAPK3	0.26607889
77	DAPK1	0.25482322
78	EGFR	0.24823257
79	PRKACA	0.24216494
80	KIT	0.22481902
81	MAP3K5	0.22305764
82	SRC	0.22098144
83	PRKCI	0.21896524
84	PLK2	0.21772448
85	ERBB2	0.21125232
86	PRKCA	0.20688423
87	VRK1	0.20308064
88	LYN	0.20078782
89	MELK	0.19209378
90	DYRK1A	0.18069363
91	PRKACG	0.17889314
92	PRKD1	0.17409493
93	DDR2	0.17309473
94	HCK	0.17157559
95	STK10	0.17112998
96	MAPK7	0.16823657
97	DYRK2	0.16683099
98	CLK1	0.16147180
99	PIM1	0.15960258
100	BUB1	0.14948974

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	4.92217199
2	Primary bile acid biosynthesis_Homo sapiens_hsa00120	3.94356726
3	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	3.89905012
4	Arginine biosynthesis_Homo sapiens_hsa00220	3.76459246
5	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	3.21650447
6	Sulfur relay system_Homo sapiens_hsa04122	3.00016952
7	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	2.53629067
8	Sulfur metabolism_Homo sapiens_hsa00920	2.49689899
9	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	2.46833281
10	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	2.31657151
11	Complement and coagulation cascades_Homo sapiens_hsa04610	2.28277651
12	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	2.27988176
13	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	2.23260125
14	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	2.15335187
15	Chemical carcinogenesis_Homo sapiens_hsa05204	2.14182995
16	Steroid hormone biosynthesis_Homo sapiens_hsa00140	2.10220537
17	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.89212936
18	Caffeine metabolism_Homo sapiens_hsa00232	1.81193089
19	Retinol metabolism_Homo sapiens_hsa00830	1.77301876
20	Fatty acid degradation_Homo sapiens_hsa00071	1.73718034
21	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.56856820
22	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	1.54612226
23	Glycosaminoglycan degradation_Homo sapiens_hsa00531	1.53931402
24	Drug metabolism - other enzymes_Homo sapiens_hsa00983	1.51010596
25	Peroxisome_Homo sapiens_hsa04146	1.49382681
26	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.45829360
27	Other glycan degradation_Homo sapiens_hsa00511	1.39572097
28	Phenylalanine metabolism_Homo sapiens_hsa00360	1.36146198
29	Pyruvate metabolism_Homo sapiens_hsa00620	1.35723982
30	Biosynthesis of amino acids_Homo sapiens_hsa01230	1.33947979
31	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	1.31978198
32	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.27481749
33	Histidine metabolism_Homo sapiens_hsa00340	1.17708520
34	Tyrosine metabolism_Homo sapiens_hsa00350	1.12590505
35	Bile secretion_Homo sapiens_hsa04976	1.10731049
36	Arginine and proline metabolism_Homo sapiens_hsa00330	1.09099656
37	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.98205904
38	Fatty acid metabolism_Homo sapiens_hsa01212	0.97871533
39	PPAR signaling pathway_Homo sapiens_hsa03320	0.97778256
40	Butanoate metabolism_Homo sapiens_hsa00650	0.97504682
41	Linoleic acid metabolism_Homo sapiens_hsa00591	0.94634386
42	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.92416634
43	Glutathione metabolism_Homo sapiens_hsa00480	0.92051559
44	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.92041189
45	Fatty acid elongation_Homo sapiens_hsa00062	0.89656841
46	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.88708801
47	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.85418632
48	Metabolic pathways_Homo sapiens_hsa01100	0.81043344
49	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.80665917
50	Lysosome_Homo sapiens_hsa04142	0.80399085
51	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.79607855
52	Carbon metabolism_Homo sapiens_hsa01200	0.79458001
53	Steroid biosynthesis_Homo sapiens_hsa00100	0.74260572
54	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.73487634
55	Galactose metabolism_Homo sapiens_hsa00052	0.73451773
56	Fat digestion and absorption_Homo sapiens_hsa04975	0.73333688
57	Tryptophan metabolism_Homo sapiens_hsa00380	0.73328460
58	Basal transcription factors_Homo sapiens_hsa03022	0.71751572
59	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.71536294
60	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.70479606
61	Oxidative phosphorylation_Homo sapiens_hsa00190	0.69180397
62	Staphylococcus aureus infection_Homo sapiens_hsa05150	0.65009874
63	Fructose and mannose metabolism_Homo sapiens_hsa00051	0.64177448
64	Fanconi anemia pathway_Homo sapiens_hsa03460	0.62851132
65	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.56952749
66	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.55290012
67	beta-Alanine metabolism_Homo sapiens_hsa00410	0.53130080
68	Cyanoamino acid metabolism_Homo sapiens_hsa00460	0.50136417
69	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.48472569
70	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.46770191
71	Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524	0.46517086
72	Nitrogen metabolism_Homo sapiens_hsa00910	0.46209759
73	Propanoate metabolism_Homo sapiens_hsa00640	0.44834242
74	RNA polymerase_Homo sapiens_hsa03020	0.44278563
75	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.44139847
76	Proteasome_Homo sapiens_hsa03050	0.43985924
77	Parkinsons disease_Homo sapiens_hsa05012	0.42191825
78	Rheumatoid arthritis_Homo sapiens_hsa05323	0.41042866
79	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	0.33544970
80	ABC transporters_Homo sapiens_hsa02010	0.33333312
81	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	0.30878105
82	Folate biosynthesis_Homo sapiens_hsa00790	0.29546029
83	Carbohydrate digestion and absorption_Homo sapiens_hsa04973	0.28596445
84	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.27352731
85	Regulation of autophagy_Homo sapiens_hsa04140	0.27217080
86	Homologous recombination_Homo sapiens_hsa03440	0.25405080
87	Protein export_Homo sapiens_hsa03060	0.23874609
88	Renin-angiotensin system_Homo sapiens_hsa04614	0.22819811
89	Glycerolipid metabolism_Homo sapiens_hsa00561	0.22040549
90	Phototransduction_Homo sapiens_hsa04744	0.20775930
91	Vibrio cholerae infection_Homo sapiens_hsa05110	0.19577008
92	Collecting duct acid secretion_Homo sapiens_hsa04966	0.19146847
93	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.18917242
94	Sphingolipid metabolism_Homo sapiens_hsa00600	0.17274538
95	Pyrimidine metabolism_Homo sapiens_hsa00240	0.16861266
96	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.16472318
97	Huntingtons disease_Homo sapiens_hsa05016	0.15982992
98	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.14629378
99	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.13709128
100	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.11686206

BANF1P2

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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