ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	peptidyl-histidine modification (GO:0018202)	5.23891369
2	regulation of translational termination (GO:0006449)	4.70097271
3	ubiquinone metabolic process (GO:0006743)	4.65909088
4	protein-cofactor linkage (GO:0018065)	4.65236159
5	positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	4.61206600
6	positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)	4.61206600
7	positive regulation of mitotic sister chromatid separation (GO:1901970)	4.61206600
8	kynurenine metabolic process (GO:0070189)	4.49903319
9	deoxyribonucleoside monophosphate metabolic process (GO:0009162)	4.48949329
10	C4-dicarboxylate transport (GO:0015740)	4.42298920
11	acrosome reaction (GO:0007340)	4.39353752
12	establishment of integrated proviral latency (GO:0075713)	4.37398284
13	adaptation of signaling pathway (GO:0023058)	4.35908744
14	maternal behavior (GO:0042711)	4.33860669
15	regulation of mitotic spindle organization (GO:0060236)	4.30695203
16	regulation of translational fidelity (GO:0006450)	4.09029298
17	phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)	4.05357561
18	neuron remodeling (GO:0016322)	4.04913087
19	positive regulation of macroautophagy (GO:0016239)	4.04435353
20	mitochondrial RNA metabolic process (GO:0000959)	3.94720570
21	regulation of mitotic spindle checkpoint (GO:1903504)	3.89624368
22	regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	3.89624368
23	ribosome assembly (GO:0042255)	3.87936150
24	parental behavior (GO:0060746)	3.84539140
25	righting reflex (GO:0060013)	3.82582259
26	alanine transport (GO:0032328)	3.70013712
27	regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	3.65456158
28	positive regulation of response to nutrient levels (GO:0032109)	3.64950709
29	positive regulation of response to extracellular stimulus (GO:0032106)	3.64950709
30	rRNA modification (GO:0000154)	3.59907845
31	rRNA methylation (GO:0031167)	3.57481244
32	developmental pigmentation (GO:0048066)	3.56116952
33	glucosamine-containing compound catabolic process (GO:1901072)	3.55810674
34	regulation of type B pancreatic cell apoptotic process (GO:2000674)	3.52487887
35	tryptophan metabolic process (GO:0006568)	3.51675174
36	regulation of hexokinase activity (GO:1903299)	3.50999283
37	regulation of glucokinase activity (GO:0033131)	3.50999283
38	protein complex biogenesis (GO:0070271)	3.50594009
39	establishment of viral latency (GO:0019043)	3.40255128
40	fusion of sperm to egg plasma membrane (GO:0007342)	3.38883372
41	fatty acid elongation (GO:0030497)	3.38756271
42	endosome to pigment granule transport (GO:0043485)	3.37621897
43	endosome to melanosome transport (GO:0035646)	3.37621897
44	embryonic placenta development (GO:0001892)	3.27991464
45	proline biosynthetic process (GO:0006561)	3.27119008
46	respiratory chain complex IV assembly (GO:0008535)	3.25348413
47	negative regulation of JAK-STAT cascade (GO:0046426)	3.22155952
48	lens fiber cell differentiation (GO:0070306)	3.19990395
49	mitochondrial respiratory chain complex assembly (GO:0033108)	3.19529537
50	mitochondrial calcium ion transport (GO:0006851)	3.18788353
51	intestinal epithelial cell development (GO:0060576)	3.17717398
52	coenzyme A metabolic process (GO:0015936)	3.13933966
53	folic acid-containing compound biosynthetic process (GO:0009396)	3.12792302
54	regulation of metalloenzyme activity (GO:0048552)	3.12751748
55	regulation of translational elongation (GO:0006448)	3.10882964
56	indole-containing compound catabolic process (GO:0042436)	3.07187923
57	indolalkylamine catabolic process (GO:0046218)	3.07187923
58	tryptophan catabolic process (GO:0006569)	3.07187923
59	isoprenoid biosynthetic process (GO:0008299)	3.06518133
60	sperm-egg recognition (GO:0035036)	3.03072367
61	protein peptidyl-prolyl isomerization (GO:0000413)	3.01799868
62	negative regulation of striated muscle cell apoptotic process (GO:0010664)	2.99419646
63	cytochrome complex assembly (GO:0017004)	2.99393321
64	binding of sperm to zona pellucida (GO:0007339)	2.97187225
65	fructose metabolic process (GO:0006000)	2.95602253
66	ribosomal large subunit biogenesis (GO:0042273)	2.95111921
67	endoderm development (GO:0007492)	2.95060375
68	positive regulation of muscle cell apoptotic process (GO:0010661)	2.94441517
69	regulation of spindle checkpoint (GO:0090231)	2.92961947
70	cellular response to zinc ion (GO:0071294)	2.92294707
71	aggressive behavior (GO:0002118)	2.91626136
72	platelet dense granule organization (GO:0060155)	2.90797212
73	seminiferous tubule development (GO:0072520)	2.90697474
74	regulation of penile erection (GO:0060405)	2.83048515
75	regulation of meiosis I (GO:0060631)	2.82047375
76	mitochondrion transport along microtubule (GO:0047497)	2.77101069
77	establishment of mitochondrion localization, microtubule-mediated (GO:0034643)	2.77101069
78	regulation of mRNA splicing, via spliceosome (GO:0048024)	2.75747473
79	purine-containing compound salvage (GO:0043101)	2.74666426
80	positive regulation of chromosome segregation (GO:0051984)	2.73416398
81	mitochondrial calcium ion homeostasis (GO:0051560)	2.73265839
82	cellular response to dsRNA (GO:0071359)	2.69727162
83	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	2.68966462
84	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	2.68966462
85	transcription from mitochondrial promoter (GO:0006390)	2.67134300
86	positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)	2.66339502
87	negative regulation of viral release from host cell (GO:1902187)	2.65163038
88	positive regulation of mitochondrial calcium ion concentration (GO:0051561)	2.64709218
89	L-alpha-amino acid transmembrane transport (GO:1902475)	2.64613220
90	negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)	2.63991409
91	regulation of histone phosphorylation (GO:0033127)	2.63206763
92	positive regulation of skeletal muscle tissue development (GO:0048643)	2.62559970
93	de novo protein folding (GO:0006458)	2.62473128
94	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:	2.62431857
95	negative regulation of insulin secretion (GO:0046676)	2.62404824
96	indolalkylamine metabolic process (GO:0006586)	2.62319466
97	regulation of pigment cell differentiation (GO:0050932)	2.60747761
98	pyrimidine nucleoside salvage (GO:0043097)	2.60708871
99	pyrimidine-containing compound salvage (GO:0008655)	2.60708871
100	magnesium ion transport (GO:0015693)	2.59547016

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	4.91329536
2	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	4.29587627
3	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	3.91985155
4	GABP_17652178_ChIP-ChIP_JURKAT_Human	3.39667860
5	ETS1_20019798_ChIP-Seq_JURKAT_Human	3.24053780
6	ELK1_19687146_ChIP-ChIP_HELA_Human	3.17905121
7	CREB1_15753290_ChIP-ChIP_HEK293T_Human	2.99357342
8	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	2.87532022
9	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.86471931
10	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.86303177
11	TFEB_21752829_ChIP-Seq_HELA_Human	2.71925086
12	DCP1A_22483619_ChIP-Seq_HELA_Human	2.71520189
13	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.71160689
14	ZNF274_21170338_ChIP-Seq_K562_Hela	2.59380085
15	SMAD_19615063_ChIP-ChIP_OVARY_Human	2.51987074
16	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	2.44513093
17	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.40842196
18	VDR_23849224_ChIP-Seq_CD4+_Human	2.36535726
19	SMAD4_19686287_ChIP-ChIP_HaCaT_Human	2.31598314
20	ZNF263_19887448_ChIP-Seq_K562_Human	2.16706311
21	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.11434742
22	FOXP3_21729870_ChIP-Seq_TREG_Human	2.01343826
23	MYC_18555785_ChIP-Seq_MESCs_Mouse	1.85340228
24	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.83615910
25	ATF3_23680149_ChIP-Seq_GBM1-GSC_Human	1.83494233
26	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.80195691
27	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.79953868
28	EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse	1.76267117
29	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.74449390
30	ELK1_22589737_ChIP-Seq_MCF10A_Human	1.67863144
31	IRF8_22096565_ChIP-ChIP_GC-B_Mouse	1.66867675
32	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.66202618
33	MYC_18940864_ChIP-ChIP_HL60_Human	1.63892290
34	GABP_19822575_ChIP-Seq_HepG2_Human	1.62218013
35	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.62056402
36	E2F1_18555785_ChIP-Seq_MESCs_Mouse	1.61982544
37	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.46561247
38	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	1.44946893
39	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.44415298
40	HOXB4_20404135_ChIP-ChIP_EML_Mouse	1.42475354
41	VDR_22108803_ChIP-Seq_LS180_Human	1.41910600
42	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.40858529
43	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.40501695
44	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.39140911
45	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.39140911
46	NELFA_20434984_ChIP-Seq_ESCs_Mouse	1.37853467
47	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	1.37146251
48	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	1.36207136
49	PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse	1.33946812
50	FOXP3_17237761_ChIP-ChIP_TREG_Mouse	1.32837006
51	CTCF_18555785_ChIP-Seq_MESCs_Mouse	1.31430215
52	MYC_19030024_ChIP-ChIP_MESCs_Mouse	1.31258852
53	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.29574578
54	CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human	1.29129220
55	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.26204819
56	TTF2_22483619_ChIP-Seq_HELA_Human	1.25530109
57	FLI1_20887958_ChIP-Seq_HPC-7_Mouse	1.24264462
58	MYC_19079543_ChIP-ChIP_MESCs_Mouse	1.18856828
59	FUS_26573619_Chip-Seq_HEK293_Human	1.17517496
60	ELF5_23300383_ChIP-Seq_T47D_Human	1.15670446
61	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.14920248
62	SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse	1.14357082
63	JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	1.11024141
64	POU5F1_18358816_ChIP-ChIP_MESCs_Mouse	1.10277139
65	MYCN_18555785_ChIP-Seq_MESCs_Mouse	1.09725738
66	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	1.08550049
67	NCOR_22424771_ChIP-Seq_293T_Human	1.07194674
68	ZFX_18555785_ChIP-Seq_MESCs_Mouse	0.98592321
69	MYB_26560356_Chip-Seq_TH2_Human	0.98345047
70	PPARD_23208498_ChIP-Seq_MDA-MB-231_Human	0.97822001
71	EWS_26573619_Chip-Seq_HEK293_Human	0.96888856
72	IRF8_21731497_ChIP-ChIP_J774_Mouse	0.95650944
73	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	0.94171729
74	ER_23166858_ChIP-Seq_MCF-7_Human	0.93997911
75	STAT1_20625510_ChIP-Seq_HELA_Human	0.93689139
76	IRF1_21803131_ChIP-Seq_MONOCYTES_Human	0.93085832
77	GATA3_26560356_Chip-Seq_TH2_Human	0.92798415
78	PRDM5_23873026_ChIP-Seq_MEFs_Mouse	0.92249424
79	PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse	0.88747042
80	GATA1_19941826_ChIP-Seq_K562_Human	0.86468379
81	TAL1_20887958_ChIP-Seq_HPC-7_Mouse	0.85394445
82	FOXH1_21741376_ChIP-Seq_EPCs_Human	0.83068796
83	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	0.82735141
84	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	0.81678841
85	MEF2A_21415370_ChIP-Seq_HL-1_Mouse	0.80047806
86	TAF2_19829295_ChIP-Seq_ESCs_Human	0.79336275
87	SPI1_22096565_ChIP-ChIP_GC-B_Mouse	0.79083721
88	STAT4_19710469_ChIP-ChIP_TH1__Mouse	0.78969053
89	JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	0.78450249
90	LMO2_20887958_ChIP-Seq_HPC-7_Mouse	0.78108549
91	NANOG_16153702_ChIP-ChIP_HESCs_Human	0.77734737
92	CTBP2_25329375_ChIP-Seq_LNCAP_Human	0.77016423
93	TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human	0.75933030
94	ASXL1_24218140_ChIP-Seq_BMDM_Mouse	0.75702324
95	CTBP1_25329375_ChIP-Seq_LNCAP_Human	0.74674332
96	HTT_18923047_ChIP-ChIP_STHdh_Human	0.73270836
97	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	0.72149996
98	STAT3_1855785_ChIP-Seq_MESCs_Mouse	0.71470721
99	EOMES_21245162_ChIP-Seq_HESCs_Human	0.71250245
100	XRN2_22483619_ChIP-Seq_HELA_Human	0.71049454

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0009379_abnormal_foot_pigmentation	9.18336152
2	MP0005409_darkened_coat_color	5.67735661
3	MP0001188_hyperpigmentation	4.10978142
4	MP0002138_abnormal_hepatobiliary_system	4.06388967
5	MP0005174_abnormal_tail_pigmentation	3.46928862
6	MP0003303_peritoneal_inflammation	3.35548183
7	MP0002102_abnormal_ear_morphology	3.25604883
8	MP0000015_abnormal_ear_pigmentation	3.23571819
9	MP0002837_dystrophic_cardiac_calcinosis	3.09768963
10	MP0008007_abnormal_cellular_replicative	2.97046363
11	MP0001542_abnormal_bone_strength	2.50797398
12	MP0005187_abnormal_penis_morphology	2.46515885
13	MP0008057_abnormal_DNA_replication	2.34463028
14	MP0005410_abnormal_fertilization	2.22870177
15	MP0003646_muscle_fatigue	2.20070625
16	MP0000647_abnormal_sebaceous_gland	2.06842249
17	MP0009697_abnormal_copulation	2.04332833
18	MP0005464_abnormal_platelet_physiology	1.99780346
19	MP0005084_abnormal_gallbladder_morpholo	1.96400708
20	MP0003283_abnormal_digestive_organ	1.82787445
21	MP0009840_abnormal_foam_cell	1.73783402
22	MP0002095_abnormal_skin_pigmentation	1.68204854
23	MP0002638_abnormal_pupillary_reflex	1.62216508
24	MP0003252_abnormal_bile_duct	1.57078616
25	MP0009785_altered_susceptibility_to	1.51392807
26	MP0004510_myositis	1.49679480
27	MP0002693_abnormal_pancreas_physiology	1.42657071
28	MP0005058_abnormal_lysosome_morphology	1.41784157
29	MP0008058_abnormal_DNA_repair	1.41436005
30	MP0000383_abnormal_hair_follicle	1.37422108
31	MP0001968_abnormal_touch/_nociception	1.27697200
32	MP0001986_abnormal_taste_sensitivity	1.21791442
33	MP0001243_abnormal_dermal_layer	1.18774107
34	MP0010678_abnormal_skin_adnexa	1.17387698
35	MP0000372_irregular_coat_pigmentation	1.17128984
36	MP0003111_abnormal_nucleus_morphology	1.16266369
37	MP0002269_muscular_atrophy	1.15393272
38	MP0000604_amyloidosis	1.12430641
39	MP0003786_premature_aging	1.10629819
40	MP0005171_absent_coat_pigmentation	1.09947377
41	MP0002928_abnormal_bile_duct	1.08009650
42	MP0006036_abnormal_mitochondrial_physio	1.05334979
43	MP0009333_abnormal_splenocyte_physiolog	1.03439481
44	MP0005636_abnormal_mineral_homeostasis	0.97846206
45	MP0002282_abnormal_trachea_morphology	0.96732760
46	MP0002139_abnormal_hepatobiliary_system	0.95865541
47	MP0002736_abnormal_nociception_after	0.95434174
48	MP0000613_abnormal_salivary_gland	0.93845431
49	MP0003075_altered_response_to	0.92968780
50	MP0002148_abnormal_hypersensitivity_rea	0.92088004
51	MP0005165_increased_susceptibility_to	0.85349866
52	MP0002177_abnormal_outer_ear	0.84017282
53	MP0005266_abnormal_metabolism	0.83804064
54	MP0003195_calcinosis	0.83168483
55	MP0003806_abnormal_nucleotide_metabolis	0.80611890
56	MP0005166_decreased_susceptibility_to	0.78426873
57	MP0003718_maternal_effect	0.77484997
58	MP0001661_extended_life_span	0.73902156
59	MP0003448_altered_tumor_morphology	0.73223451
60	MP0001845_abnormal_inflammatory_respons	0.71915491
61	MP0002332_abnormal_exercise_endurance	0.68706903
62	MP0002127_abnormal_cardiovascular_syste	0.66843808
63	MP0003186_abnormal_redox_activity	0.66092211
64	MP0000343_altered_response_to	0.64758213
65	MP0005595_abnormal_vascular_smooth	0.64230952
66	MP0002106_abnormal_muscle_physiology	0.63688093
67	MP0006035_abnormal_mitochondrial_morpho	0.62951790
68	MP0008260_abnormal_autophagy	0.62581977
69	MP0000750_abnormal_muscle_regeneration	0.60863091
70	MP0001905_abnormal_dopamine_level	0.60319712
71	MP0002733_abnormal_thermal_nociception	0.58723357
72	MP0002163_abnormal_gland_morphology	0.58229596
73	MP0002405_respiratory_system_inflammati	0.57699459
74	MP0008872_abnormal_physiological_respon	0.56457572
75	MP0008873_increased_physiological_sensi	0.56228925
76	MP0008469_abnormal_protein_level	0.56226760
77	MP0002098_abnormal_vibrissa_morphology	0.55637197
78	MP0005623_abnormal_meninges_morphology	0.55588986
79	MP0010386_abnormal_urinary_bladder	0.55123079
80	MP0005395_other_phenotype	0.52827917
81	MP0001765_abnormal_ion_homeostasis	0.52661296
82	MP0003279_aneurysm	0.52620218
83	MP0001944_abnormal_pancreas_morphology	0.52557389
84	MP0000516_abnormal_urinary_system	0.51639551
85	MP0005367_renal/urinary_system_phenotyp	0.51639551
86	MP0001730_embryonic_growth_arrest	0.50154311
87	MP0004957_abnormal_blastocyst_morpholog	0.49669626
88	MP0003795_abnormal_bone_structure	0.49451671
89	MP0000230_abnormal_systemic_arterial	0.49065134
90	MP0005671_abnormal_response_to	0.48904159
91	MP0000467_abnormal_esophagus_morphology	0.48793654
92	MP0002019_abnormal_tumor_incidence	0.48454330
93	MP0002938_white_spotting	0.48198211
94	MP0005330_cardiomyopathy	0.47726271
95	MP0001348_abnormal_lacrimal_gland	0.47452284
96	MP0006072_abnormal_retinal_apoptosis	0.45973162
97	MP0002877_abnormal_melanocyte_morpholog	0.44779651
98	MP0010771_integument_phenotype	0.44485723
99	MP0003941_abnormal_skin_development	0.43569237
100	MP0005164_abnormal_response_to	0.43013187

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Decreased activity of mitochondrial respiratory chain (HP:0008972)	4.05693160
2	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	4.05693160
3	Fibular aplasia (HP:0002990)	3.86989249
4	Ependymoma (HP:0002888)	3.72552094
5	Choroideremia (HP:0001139)	3.70694984
6	Hypoglycemic seizures (HP:0002173)	3.62470351
7	Facial hemangioma (HP:0000329)	3.57922796
8	Buphthalmos (HP:0000557)	3.52229785
9	Increased intramyocellular lipid droplets (HP:0012240)	3.47661609
10	Methylmalonic acidemia (HP:0002912)	3.43826465
11	Hepatocellular necrosis (HP:0001404)	3.39919402
12	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	3.34713783
13	Hypothermia (HP:0002045)	3.25796807
14	Conjunctival telangiectasia (HP:0000524)	3.24856611
15	Congenital glaucoma (HP:0001087)	3.12544082
16	Reduced antithrombin III activity (HP:0001976)	3.07091236
17	Abnormality of the costochondral junction (HP:0000919)	3.07018632
18	Medulloblastoma (HP:0002885)	3.05312945
19	Limb-girdle muscle atrophy (HP:0003797)	2.98542040
20	Vacuolated lymphocytes (HP:0001922)	2.97555332
21	Large for gestational age (HP:0001520)	2.95077901
22	Abnormality of the astrocytes (HP:0100707)	2.92598907
23	Astrocytoma (HP:0009592)	2.92598907
24	Hyperinsulinemic hypoglycemia (HP:0000825)	2.90951077
25	Symptomatic seizures (HP:0011145)	2.90545611
26	Hepatic necrosis (HP:0002605)	2.89835763
27	Cortical dysplasia (HP:0002539)	2.87219410
28	Distal lower limb amyotrophy (HP:0008944)	2.85773223
29	Type I transferrin isoform profile (HP:0003642)	2.85089773
30	Late onset (HP:0003584)	2.84518229
31	Type I diabetes mellitus (HP:0100651)	2.80497820
32	Aplasia cutis congenita (HP:0001057)	2.77092925
33	Hypoglycemic coma (HP:0001325)	2.75501810
34	Metaphyseal dysplasia (HP:0100255)	2.72825644
35	Increased muscle lipid content (HP:0009058)	2.72565342
36	Lower limb hyperreflexia (HP:0002395)	2.70042964
37	Beaking of vertebral bodies (HP:0004568)	2.69648277
38	Ketoacidosis (HP:0001993)	2.68374405
39	Rhabdomyosarcoma (HP:0002859)	2.64820356
40	Abnormal pupillary function (HP:0007686)	2.58626158
41	Abnormal mitochondria in muscle tissue (HP:0008316)	2.57347751
42	Autoamputation (HP:0001218)	2.53169078
43	Abnormality of the vasculature of the conjunctiva (HP:0008054)	2.52350503
44	Abnormality of endocrine pancreas physiology (HP:0012093)	2.50440160
45	Abnormality of the pancreatic islet cells (HP:0006476)	2.50440160
46	Exocrine pancreatic insufficiency (HP:0001738)	2.49953046
47	Increased CSF lactate (HP:0002490)	2.48118672
48	Lower limb amyotrophy (HP:0007210)	2.41051595
49	Brushfield spots (HP:0001088)	2.38224973
50	Mitochondrial inheritance (HP:0001427)	2.37723299
51	Spastic paraparesis (HP:0002313)	2.36632954
52	Insulin-resistant diabetes mellitus (HP:0000831)	2.35564808
53	Cholecystitis (HP:0001082)	2.33853247
54	Abnormal gallbladder physiology (HP:0012438)	2.33853247
55	Neoplasm of striated muscle (HP:0009728)	2.33584493
56	Hyperglycemia (HP:0003074)	2.29464348
57	3-Methylglutaconic aciduria (HP:0003535)	2.28619016
58	Increased hepatocellular lipid droplets (HP:0006565)	2.26903722
59	Onycholysis (HP:0001806)	2.25561010
60	Methylmalonic aciduria (HP:0012120)	2.21976638
61	Zonular cataract (HP:0010920)	2.16326648
62	Glioma (HP:0009733)	2.14414607
63	Chronic diarrhea (HP:0002028)	2.13318476
64	Acute necrotizing encephalopathy (HP:0006965)	2.10532967
65	Heterochromia iridis (HP:0001100)	2.07721045
66	Insulin resistance (HP:0000855)	2.07480062
67	Corneal dystrophy (HP:0001131)	2.05937915
68	Upper limb muscle weakness (HP:0003484)	2.01989953
69	Osteolytic defects of the hand bones (HP:0009699)	1.99440934
70	Osteolytic defects of the phalanges of the hand (HP:0009771)	1.99440934
71	Respiratory failure (HP:0002878)	1.98321074
72	Tongue fasciculations (HP:0001308)	1.96920794
73	Chronic bronchitis (HP:0004469)	1.96055337
74	Steatorrhea (HP:0002570)	1.95239893
75	Lipid accumulation in hepatocytes (HP:0006561)	1.93839331
76	Progressive macrocephaly (HP:0004481)	1.93831797
77	Dyskinesia (HP:0100660)	1.93551729
78	Abnormal trabecular bone morphology (HP:0100671)	1.92579435
79	Delayed closure of the anterior fontanelle (HP:0001476)	1.91876591
80	Rough bone trabeculation (HP:0100670)	1.91224551
81	Renal cortical cysts (HP:0000803)	1.91153319
82	Aplasia/Hypoplasia of the fovea (HP:0008060)	1.90784688
83	Hypoplasia of the fovea (HP:0007750)	1.90784688
84	Abnormality of subcutaneous fat tissue (HP:0001001)	1.89097824
85	Hamartoma of the eye (HP:0010568)	1.87475409
86	Porencephaly (HP:0002132)	1.87380141
87	Palpitations (HP:0001962)	1.87307105
88	Abnormal protein glycosylation (HP:0012346)	1.86347534
89	Abnormal glycosylation (HP:0012345)	1.86347534
90	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	1.86347534
91	Abnormal protein N-linked glycosylation (HP:0012347)	1.86347534
92	Adrenal hypoplasia (HP:0000835)	1.83999441
93	Termporal pattern (HP:0011008)	1.83842057
94	Insidious onset (HP:0003587)	1.83842057
95	Abnormality of liposaccharide metabolism (HP:0010968)	1.82361385
96	Abnormality of glycosphingolipid metabolism (HP:0004343)	1.82361385
97	Abnormality of glycolipid metabolism (HP:0010969)	1.82361385
98	Neoplasm of the adrenal cortex (HP:0100641)	1.82319252
99	Humeroradial synostosis (HP:0003041)	1.82229138
100	Synostosis involving the elbow (HP:0003938)	1.82229138

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	PINK1	5.93152547
2	BUB1	4.55126440
3	SCYL2	3.67066286
4	IRAK3	3.18457307
5	CDC7	3.00241119
6	MST4	2.86108101
7	LIMK1	2.77518923
8	TESK1	2.54168064
9	EPHA2	2.44719123
10	NEK1	2.40611978
11	MAP4K2	2.26047613
12	EIF2AK1	2.23358678
13	TRIM28	2.20841900
14	MAPKAPK3	2.06085466
15	STK16	1.91641497
16	TESK2	1.89709662
17	STK24	1.81259098
18	NME2	1.73718343
19	PASK	1.55677973
20	ERBB4	1.43290028
21	STK38L	1.39579056
22	CSNK1G3	1.28419560
23	MAP2K6	1.27397355
24	ERBB3	1.24841019
25	SRPK1	1.23443189
26	JAK3	1.21814278
27	MINK1	1.21757632
28	CSNK1G1	1.21650475
29	MST1R	1.16465230
30	FRK	1.15526842
31	DAPK1	1.08042944
32	TRPM7	1.06319841
33	PAK4	1.03877161
34	MAP3K9	1.03793211
35	CSNK1A1L	1.00342865
36	STK3	0.98615255
37	TSSK6	0.97230965
38	GRK1	0.96300407
39	RPS6KA4	0.95394787
40	ADRBK2	0.92241044
41	LMTK2	0.91475124
42	PIM2	0.88531974
43	PRKD3	0.87221034
44	CDK6	0.84526007
45	ATR	0.79207702
46	MAP3K8	0.79102266
47	STK10	0.77809914
48	MAP3K12	0.74723711
49	CSNK1G2	0.74693023
50	PLK2	0.70163985
51	PAK6	0.69832115
52	PHKG2	0.69084934
53	PHKG1	0.69084934
54	GSK3A	0.68571769
55	PLK3	0.65892681
56	TTK	0.62808853
57	DAPK2	0.59894443
58	MAP3K3	0.58494835
59	VRK2	0.58492366
60	PRKD2	0.55556991
61	EIF2AK3	0.55251085
62	MAP2K7	0.54529686
63	KDR	0.54448951
64	ADRBK1	0.50947993
65	STK39	0.50581119
66	IKBKB	0.47436244
67	PLK4	0.47019526
68	IGF1R	0.45037972
69	CAMK2G	0.42796971
70	WNK3	0.41851423
71	ROCK2	0.41363356
72	WEE1	0.41020349
73	IRAK2	0.40953565
74	WNK4	0.39089490
75	ROCK1	0.38869259
76	CLK1	0.37716110
77	ABL2	0.37580049
78	PTK2B	0.37109678
79	NTRK3	0.36718190
80	INSRR	0.35711624
81	EGFR	0.35696574
82	PRKCI	0.35335818
83	ALK	0.35247693
84	CAMK2A	0.35012695
85	ABL1	0.34815170
86	BCKDK	0.34625117
87	CSNK1A1	0.34398827
88	MYLK	0.33049228
89	FLT3	0.32821737
90	AURKA	0.31873825
91	FGFR3	0.31640471
92	LRRK2	0.31368765
93	PAK1	0.27779318
94	MKNK1	0.26797235
95	TAOK2	0.25812205
96	MAPK11	0.25204358
97	DAPK3	0.25121946
98	LATS1	0.24965586
99	GRK7	0.24749936
100	NUAK1	0.24216340

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Proteasome_Homo sapiens_hsa03050	3.98452618
2	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	3.80132136
3	Maturity onset diabetes of the young_Homo sapiens_hsa04950	3.59577267
4	Protein export_Homo sapiens_hsa03060	3.32504874
5	Oxidative phosphorylation_Homo sapiens_hsa00190	2.84819076
6	Sulfur metabolism_Homo sapiens_hsa00920	2.83462514
7	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	2.60682998
8	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	2.40902328
9	One carbon pool by folate_Homo sapiens_hsa00670	2.35175163
10	Collecting duct acid secretion_Homo sapiens_hsa04966	2.27788262
11	Mismatch repair_Homo sapiens_hsa03430	2.21331158
12	Vibrio cholerae infection_Homo sapiens_hsa05110	2.20325208
13	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	2.07003020
14	African trypanosomiasis_Homo sapiens_hsa05143	1.94399995
15	Renin secretion_Homo sapiens_hsa04924	1.93889153
16	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	1.87671280
17	Parkinsons disease_Homo sapiens_hsa05012	1.82387214
18	Rheumatoid arthritis_Homo sapiens_hsa05323	1.79112656
19	Selenocompound metabolism_Homo sapiens_hsa00450	1.73283635
20	RNA polymerase_Homo sapiens_hsa03020	1.65127679
21	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.47795673
22	DNA replication_Homo sapiens_hsa03030	1.47362917
23	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.46751471
24	Purine metabolism_Homo sapiens_hsa00230	1.41444859
25	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.38728165
26	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	1.38038573
27	Fatty acid elongation_Homo sapiens_hsa00062	1.35237622
28	Pyrimidine metabolism_Homo sapiens_hsa00240	1.29523022
29	Alzheimers disease_Homo sapiens_hsa05010	1.23576630
30	Antigen processing and presentation_Homo sapiens_hsa04612	1.23182512
31	Type II diabetes mellitus_Homo sapiens_hsa04930	1.17829132
32	Tryptophan metabolism_Homo sapiens_hsa00380	1.15876703
33	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	1.13859994
34	Vitamin B6 metabolism_Homo sapiens_hsa00750	1.08216743
35	Nitrogen metabolism_Homo sapiens_hsa00910	1.07382282
36	Salivary secretion_Homo sapiens_hsa04970	1.05102842
37	Huntingtons disease_Homo sapiens_hsa05016	1.03326630
38	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.98126699
39	RNA transport_Homo sapiens_hsa03013	0.97433752
40	Glutathione metabolism_Homo sapiens_hsa00480	0.97416380
41	Fructose and mannose metabolism_Homo sapiens_hsa00051	0.92086613
42	Tyrosine metabolism_Homo sapiens_hsa00350	0.89817259
43	Phototransduction_Homo sapiens_hsa04744	0.89259329
44	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.84815612
45	Type I diabetes mellitus_Homo sapiens_hsa04940	0.83743153
46	Legionellosis_Homo sapiens_hsa05134	0.83405065
47	Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524	0.82979505
48	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.82698027
49	Arginine and proline metabolism_Homo sapiens_hsa00330	0.81367058
50	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.79956520
51	Butanoate metabolism_Homo sapiens_hsa00650	0.75385054
52	Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141	0.73947756
53	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.73915320
54	Galactose metabolism_Homo sapiens_hsa00052	0.73312431
55	Pyruvate metabolism_Homo sapiens_hsa00620	0.71562004
56	Ribosome_Homo sapiens_hsa03010	0.70742086
57	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.70511681
58	RNA degradation_Homo sapiens_hsa03018	0.64701260
59	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	0.64549646
60	Peroxisome_Homo sapiens_hsa04146	0.63012981
61	Lysosome_Homo sapiens_hsa04142	0.62163364
62	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.62031042
63	NF-kappa B signaling pathway_Homo sapiens_hsa04064	0.61833088
64	Primary immunodeficiency_Homo sapiens_hsa05340	0.61276287
65	Folate biosynthesis_Homo sapiens_hsa00790	0.61136628
66	Homologous recombination_Homo sapiens_hsa03440	0.58608364
67	Arginine biosynthesis_Homo sapiens_hsa00220	0.55582026
68	Mineral absorption_Homo sapiens_hsa04978	0.54918828
69	Insulin secretion_Homo sapiens_hsa04911	0.52617567
70	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.52390385
71	Metabolic pathways_Homo sapiens_hsa01100	0.52226887
72	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.51713695
73	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.50343889
74	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.50295813
75	Hematopoietic cell lineage_Homo sapiens_hsa04640	0.49530263
76	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.47205629
77	Malaria_Homo sapiens_hsa05144	0.46950624
78	Basal transcription factors_Homo sapiens_hsa03022	0.46859397
79	Graft-versus-host disease_Homo sapiens_hsa05332	0.44447237
80	Propanoate metabolism_Homo sapiens_hsa00640	0.43762584
81	Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750	0.43537383
82	mRNA surveillance pathway_Homo sapiens_hsa03015	0.41688678
83	Cardiac muscle contraction_Homo sapiens_hsa04260	0.41272053
84	Fatty acid degradation_Homo sapiens_hsa00071	0.39460837
85	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	0.36466677
86	Circadian entrainment_Homo sapiens_hsa04713	0.36320577
87	Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120	0.34413169
88	Nucleotide excision repair_Homo sapiens_hsa03420	0.33965174
89	Olfactory transduction_Homo sapiens_hsa04740	0.29231942
90	Amoebiasis_Homo sapiens_hsa05146	0.28611243
91	Steroid biosynthesis_Homo sapiens_hsa00100	0.28167645
92	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.26253353
93	Carbon metabolism_Homo sapiens_hsa01200	0.25158655
94	Base excision repair_Homo sapiens_hsa03410	0.24419769
95	Thyroid hormone synthesis_Homo sapiens_hsa04918	0.24298484
96	Bile secretion_Homo sapiens_hsa04976	0.22639493
97	TNF signaling pathway_Homo sapiens_hsa04668	0.22433582
98	Sphingolipid metabolism_Homo sapiens_hsa00600	0.22324342
99	Salmonella infection_Homo sapiens_hsa05132	0.20718529
100	Viral myocarditis_Homo sapiens_hsa05416	0.20641272

PCNPP3

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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