ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	inner mitochondrial membrane organization (GO:0007007)	4.98587556
2	respiratory chain complex IV assembly (GO:0008535)	4.93403821
3	cytochrome complex assembly (GO:0017004)	4.85552267
4	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	4.70135040
5	protein complex biogenesis (GO:0070271)	4.61211149
6	positive regulation of glycoprotein biosynthetic process (GO:0010560)	4.50163449
7	cellular ketone body metabolic process (GO:0046950)	4.44572970
8	misfolded or incompletely synthesized protein catabolic process (GO:0006515)	4.44017443
9	positive regulation of actin filament depolymerization (GO:0030836)	4.38587081
10	establishment of protein localization to mitochondrial membrane (GO:0090151)	4.30056390
11	ATP synthesis coupled proton transport (GO:0015986)	4.27955078
12	energy coupled proton transport, down electrochemical gradient (GO:0015985)	4.27955078
13	inositol phosphate dephosphorylation (GO:0046855)	4.24620841
14	phosphorylated carbohydrate dephosphorylation (GO:0046838)	4.24620841
15	protein import into peroxisome matrix (GO:0016558)	4.20629164
16	mitochondrial respiratory chain complex assembly (GO:0033108)	4.17317002
17	artery smooth muscle contraction (GO:0014824)	4.12698708
18	ketone body metabolic process (GO:1902224)	4.05286704
19	inositol phosphate catabolic process (GO:0071545)	4.04082951
20	positive regulation of glycoprotein metabolic process (GO:1903020)	4.02253761
21	regulation of glucokinase activity (GO:0033131)	3.99393504
22	regulation of hexokinase activity (GO:1903299)	3.99393504
23	regulation of mitochondrial translation (GO:0070129)	3.84114020
24	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	3.74824602
25	behavioral response to nicotine (GO:0035095)	3.72393222
26	intracellular protein transmembrane import (GO:0044743)	3.70403902
27	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.69058137
28	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.69058137
29	NADH dehydrogenase complex assembly (GO:0010257)	3.69058137
30	platelet dense granule organization (GO:0060155)	3.61448383
31	tonic smooth muscle contraction (GO:0014820)	3.40350816
32	regulation of cilium movement (GO:0003352)	3.37354891
33	very-low-density lipoprotein particle assembly (GO:0034379)	3.34769936
34	electron transport chain (GO:0022900)	3.33786509
35	autophagic vacuole fusion (GO:0000046)	3.31418961
36	respiratory electron transport chain (GO:0022904)	3.27134211
37	amino-acid betaine metabolic process (GO:0006577)	3.19084863
38	indolalkylamine metabolic process (GO:0006586)	3.18359829
39	insulin secretion (GO:0030073)	3.16037274
40	interkinetic nuclear migration (GO:0022027)	3.14899452
41	magnesium ion transport (GO:0015693)	3.14782481
42	polyol catabolic process (GO:0046174)	3.14697876
43	positive regulation of muscle hypertrophy (GO:0014742)	3.09085650
44	positive regulation of cardiac muscle hypertrophy (GO:0010613)	3.09085650
45	energy homeostasis (GO:0097009)	3.08671209
46	glycerophospholipid catabolic process (GO:0046475)	3.07377250
47	vascular smooth muscle contraction (GO:0014829)	3.05739732
48	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.03569268
49	organelle membrane fusion (GO:0090174)	3.03220849
50	inner ear receptor cell development (GO:0060119)	3.02066795
51	serotonin metabolic process (GO:0042428)	3.00413829
52	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	2.98940276
53	L-phenylalanine catabolic process (GO:0006559)	2.98112371
54	erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)	2.98112371
55	hydrogen ion transmembrane transport (GO:1902600)	2.96292118
56	urate metabolic process (GO:0046415)	2.95411394
57	ovulation cycle (GO:0042698)	2.95276928
58	erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)	2.94178212
59	L-phenylalanine metabolic process (GO:0006558)	2.94178212
60	kidney morphogenesis (GO:0060993)	2.92310844
61	proteasome assembly (GO:0043248)	2.90380714
62	signal peptide processing (GO:0006465)	2.88454812
63	purine nucleoside triphosphate biosynthetic process (GO:0009145)	2.84276590
64	high-density lipoprotein particle remodeling (GO:0034375)	2.83656204
65	regulation of protein glycosylation (GO:0060049)	2.83280814
66	adenosine metabolic process (GO:0046085)	2.82842655
67	endocrine pancreas development (GO:0031018)	2.81538911
68	aggressive behavior (GO:0002118)	2.79598983
69	proton transport (GO:0015992)	2.79178608
70	cell wall macromolecule catabolic process (GO:0016998)	2.78891474
71	piRNA metabolic process (GO:0034587)	2.78091513
72	hydrogen transport (GO:0006818)	2.77680328
73	epithelial cell fate commitment (GO:0072148)	2.76769854
74	negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)	2.75663395
75	DNA deamination (GO:0045006)	2.75588410
76	protein targeting to peroxisome (GO:0006625)	2.73534930
77	establishment of protein localization to peroxisome (GO:0072663)	2.73534930
78	protein localization to peroxisome (GO:0072662)	2.73534930
79	protein neddylation (GO:0045116)	2.72158257
80	ATP biosynthetic process (GO:0006754)	2.71278605
81	intracellular protein transmembrane transport (GO:0065002)	2.70484384
82	phasic smooth muscle contraction (GO:0014821)	2.70453353
83	carnitine metabolic process (GO:0009437)	2.68376728
84	indole-containing compound metabolic process (GO:0042430)	2.67712189
85	heart contraction (GO:0060047)	2.64948334
86	heart process (GO:0003015)	2.64948334
87	regulation of cytokine secretion involved in immune response (GO:0002739)	2.64698107
88	primary amino compound metabolic process (GO:1901160)	2.64308286
89	protein peptidyl-prolyl isomerization (GO:0000413)	2.61983447
90	aromatic amino acid family catabolic process (GO:0009074)	2.61365699
91	reverse cholesterol transport (GO:0043691)	2.60556225
92	thyroid hormone metabolic process (GO:0042403)	2.60293598
93	detection of light stimulus involved in sensory perception (GO:0050962)	2.59437114
94	detection of light stimulus involved in visual perception (GO:0050908)	2.59437114
95	nitric oxide mediated signal transduction (GO:0007263)	2.58360966
96	opioid receptor signaling pathway (GO:0038003)	2.57757514
97	negative regulation of protein oligomerization (GO:0032460)	2.57578087
98	keratinocyte development (GO:0003334)	2.56755955
99	nephron tubule morphogenesis (GO:0072078)	2.55040410
100	nephron epithelium morphogenesis (GO:0072088)	2.55040410

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	3.52885275
2	VDR_22108803_ChIP-Seq_LS180_Human	3.31906857
3	ZNF274_21170338_ChIP-Seq_K562_Hela	3.11087553
4	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.72808463
5	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.66988319
6	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	2.49888638
7	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.38258843
8	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.31427521
9	FUS_26573619_Chip-Seq_HEK293_Human	2.24574794
10	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.20638990
11	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.18648555
12	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.16365036
13	ER_23166858_ChIP-Seq_MCF-7_Human	2.14889519
14	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.14173355
15	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.98866000
16	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.98041843
17	EWS_26573619_Chip-Seq_HEK293_Human	1.93475939
18	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.93165412
19	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.92270672
20	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.92090888
21	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.82557659
22	GBX2_23144817_ChIP-Seq_PC3_Human	1.78561809
23	ELK1_19687146_ChIP-ChIP_HELA_Human	1.78158838
24	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.76945059
25	P300_19829295_ChIP-Seq_ESCs_Human	1.76233237
26	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.74470600
27	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.69585965
28	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.68343102
29	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.66225090
30	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.64615907
31	CBP_20019798_ChIP-Seq_JUKART_Human	1.64615907
32	SOX2_19829295_ChIP-Seq_ESCs_Human	1.63828441
33	NANOG_19829295_ChIP-Seq_ESCs_Human	1.63828441
34	TP53_22573176_ChIP-Seq_HFKS_Human	1.61680351
35	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.58887009
36	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.52663469
37	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.50892298
38	TCF4_22108803_ChIP-Seq_LS180_Human	1.50261670
39	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.48116870
40	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.48116870
41	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.47837004
42	VDR_23849224_ChIP-Seq_CD4+_Human	1.47693135
43	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.43858654
44	P53_22387025_ChIP-Seq_ESCs_Mouse	1.42094329
45	BCAT_22108803_ChIP-Seq_LS180_Human	1.40176872
46	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.35453186
47	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.34806187
48	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.34672564
49	STAT3_23295773_ChIP-Seq_U87_Human	1.34412275
50	SMAD4_21799915_ChIP-Seq_A2780_Human	1.33903487
51	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.33415830
52	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.31816955
53	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.30773429
54	TAF15_26573619_Chip-Seq_HEK293_Human	1.30458025
55	TCF4_23295773_ChIP-Seq_U87_Human	1.29292377
56	HNF4A_19761587_ChIP-ChIP_CACO-2_Human	1.29061564
57	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.28907156
58	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	1.28118073
59	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.26801212
60	AR_25329375_ChIP-Seq_VCAP_Human	1.26447013
61	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.24886778
62	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.24550416
63	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.22720181
64	NCOR_22424771_ChIP-Seq_293T_Human	1.21850273
65	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.21777500
66	STAT3_18555785_Chip-Seq_ESCs_Mouse	1.21179399
67	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.20922181
68	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.20537585
69	OCT4_21477851_ChIP-Seq_ESCs_Mouse	1.20052246
70	OCT4_18555785_Chip-Seq_ESCs_Mouse	1.19203805
71	MYC_18940864_ChIP-ChIP_HL60_Human	1.18898480
72	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.18383515
73	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.18011072
74	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.16565038
75	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.16372491
76	EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse	1.14678446
77	DMRT1_21621532_ChIP-ChIP_FETAL_Ovary	1.14668888
78	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.14563753
79	IGF1R_20145208_ChIP-Seq_DFB_Human	1.14331295
80	P300_18555785_Chip-Seq_ESCs_Mouse	1.14058396
81	SOX2_18555785_Chip-Seq_ESCs_Mouse	1.12995152
82	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.12210826
83	CMYC_18555785_Chip-Seq_ESCs_Mouse	1.11724857
84	E2F1_18555785_Chip-Seq_ESCs_Mouse	1.11352588
85	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.10824084
86	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	1.10505202
87	CTCF_18555785_Chip-Seq_ESCs_Mouse	1.10244257
88	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.10058817
89	SUZ12_18555785_Chip-Seq_ESCs_Mouse	1.07280571
90	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.05396906
91	PHF8_20622853_ChIP-Seq_HELA_Human	1.05133618
92	RNF2_27304074_Chip-Seq_NSC_Mouse	1.04869030
93	REST_21632747_ChIP-Seq_MESCs_Mouse	1.04582229
94	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.04284265
95	CDX2_22108803_ChIP-Seq_LS180_Human	1.04180010
96	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.03830954
97	HTT_18923047_ChIP-ChIP_STHdh_Human	1.03615697
98	ZFX_18555785_Chip-Seq_ESCs_Mouse	1.03365637
99	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.03037471
100	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.01558354

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0000569_abnormal_digit_pigmentation	5.29909915
2	MP0002938_white_spotting	3.74642771
3	MP0003787_abnormal_imprinting	3.33213502
4	MP0004147_increased_porphyrin_level	3.28774331
5	MP0003011_delayed_dark_adaptation	2.88685876
6	MP0002837_dystrophic_cardiac_calcinosis	2.57982373
7	MP0002254_reproductive_system_inflammat	2.46420998
8	MP0003806_abnormal_nucleotide_metabolis	2.43030863
9	MP0000372_irregular_coat_pigmentation	2.41871388
10	MP0003136_yellow_coat_color	2.37411024
11	MP0005075_abnormal_melanosome_morpholog	2.37263029
12	MP0000647_abnormal_sebaceous_gland	2.36810420
13	MP0005187_abnormal_penis_morphology	2.32986244
14	MP0005645_abnormal_hypothalamus_physiol	2.32066549
15	MP0006072_abnormal_retinal_apoptosis	2.21795433
16	MP0005174_abnormal_tail_pigmentation	2.16814204
17	MP0004043_abnormal_pH_regulation	2.08330562
18	MP0002139_abnormal_hepatobiliary_system	2.06791361
19	MP0002909_abnormal_adrenal_gland	2.03689248
20	MP0008877_abnormal_DNA_methylation	2.03177112
21	MP0000013_abnormal_adipose_tissue	1.99767162
22	MP0005379_endocrine/exocrine_gland_phen	1.98182853
23	MP0008004_abnormal_stomach_pH	1.97428835
24	MP0002163_abnormal_gland_morphology	1.96087681
25	MP0005551_abnormal_eye_electrophysiolog	1.89018129
26	MP0005646_abnormal_pituitary_gland	1.81287909
27	MP0000427_abnormal_hair_cycle	1.78078295
28	MP0008995_early_reproductive_senescence	1.73997430
29	MP0009840_abnormal_foam_cell	1.71169034
30	MP0002876_abnormal_thyroid_physiology	1.70538684
31	MP0003195_calcinosis	1.65338746
32	MP0003315_abnormal_perineum_morphology	1.64096926
33	MP0005253_abnormal_eye_physiology	1.62234355
34	MP0002638_abnormal_pupillary_reflex	1.57655091
35	MP0004381_abnormal_hair_follicle	1.53935829
36	MP0001968_abnormal_touch/_nociception	1.53503955
37	MP0010329_abnormal_lipoprotein_level	1.51648694
38	MP0002095_abnormal_skin_pigmentation	1.45948130
39	MP0005084_abnormal_gallbladder_morpholo	1.42495238
40	MP0006054_spinal_hemorrhage	1.39600248
41	MP0002138_abnormal_hepatobiliary_system	1.35850373
42	MP0004885_abnormal_endolymph	1.35354122
43	MP0001986_abnormal_taste_sensitivity	1.33542182
44	MP0000639_abnormal_adrenal_gland	1.33531960
45	MP0002557_abnormal_social/conspecific_i	1.29732842
46	MP0003122_maternal_imprinting	1.26768076
47	MP0003121_genomic_imprinting	1.26144149
48	MP0009046_muscle_twitch	1.25153068
49	MP0005332_abnormal_amino_acid	1.25138312
50	MP0005365_abnormal_bile_salt	1.24307730
51	MP0000566_synostosis	1.23989642
52	MP0003283_abnormal_digestive_organ	1.23531105
53	MP0003186_abnormal_redox_activity	1.22647118
54	MP0005636_abnormal_mineral_homeostasis	1.22024684
55	MP0008875_abnormal_xenobiotic_pharmacok	1.21817661
56	MP0002693_abnormal_pancreas_physiology	1.18379628
57	MP0003786_premature_aging	1.15770923
58	MP0002751_abnormal_autonomic_nervous	1.14529945
59	MP0001944_abnormal_pancreas_morphology	1.12042895
60	MP0002736_abnormal_nociception_after	1.11746182
61	MP0001905_abnormal_dopamine_level	1.11123790
62	MP0005220_abnormal_exocrine_pancreas	1.08150477
63	MP0001485_abnormal_pinna_reflex	1.07381279
64	MP0004133_heterotaxia	1.05711555
65	MP0005310_abnormal_salivary_gland	1.05148021
66	MP0008872_abnormal_physiological_respon	1.02117745
67	MP0009745_abnormal_behavioral_response	0.99431747
68	MP0004142_abnormal_muscle_tone	0.94876248
69	MP0002928_abnormal_bile_duct	0.91795498
70	MP0004215_abnormal_myocardial_fiber	0.90338685
71	MP0002102_abnormal_ear_morphology	0.89858894
72	MP0001756_abnormal_urination	0.88086426
73	MP0002272_abnormal_nervous_system	0.87410119
74	MP0003718_maternal_effect	0.85859912
75	MP0001984_abnormal_olfaction	0.85348855
76	MP0001919_abnormal_reproductive_system	0.84464818
77	MP0006036_abnormal_mitochondrial_physio	0.81640223
78	MP0005389_reproductive_system_phenotype	0.81431468
79	MP0000015_abnormal_ear_pigmentation	0.80608294
80	MP0001873_stomach_inflammation	0.80503744
81	MP0001324_abnormal_eye_pigmentation	0.79972749
82	MP0003868_abnormal_feces_composition	0.79289870
83	MP0002277_abnormal_respiratory_mucosa	0.77601236
84	MP0003045_fibrosis	0.76640127
85	MP0002160_abnormal_reproductive_system	0.76121498
86	MP0001970_abnormal_pain_threshold	0.74358970
87	MP0005408_hypopigmentation	0.73202295
88	MP0003953_abnormal_hormone_level	0.72174121
89	MP0003880_abnormal_central_pattern	0.71582474
90	MP0010386_abnormal_urinary_bladder	0.71083650
91	MP0002078_abnormal_glucose_homeostasis	0.70834438
92	MP0004019_abnormal_vitamin_homeostasis	0.70744618
93	MP0006035_abnormal_mitochondrial_morpho	0.70338888
94	MP0002229_neurodegeneration	0.69208997
95	MP0003123_paternal_imprinting	0.67406409
96	MP0001243_abnormal_dermal_layer	0.66958410
97	MP0005535_abnormal_body_temperature	0.61632716
98	MP0004924_abnormal_behavior	0.59699536
99	MP0005386_behavior/neurological_phenoty	0.59699536
100	MP0001765_abnormal_ion_homeostasis	0.59349996

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Hypothermia (HP:0002045)	4.55813949
2	Acute necrotizing encephalopathy (HP:0006965)	4.10061010
3	Type II lissencephaly (HP:0007260)	3.87879228
4	Progressive macrocephaly (HP:0004481)	3.74034519
5	Acute encephalopathy (HP:0006846)	3.58516554
6	Mitochondrial inheritance (HP:0001427)	3.53307064
7	Abnormal mitochondria in muscle tissue (HP:0008316)	3.45860679
8	Congenital, generalized hypertrichosis (HP:0004540)	3.45467375
9	Increased CSF lactate (HP:0002490)	3.43842782
10	Congenital stationary night blindness (HP:0007642)	3.32267303
11	Pancreatic cysts (HP:0001737)	3.09530161
12	Concave nail (HP:0001598)	2.80992470
13	Molar tooth sign on MRI (HP:0002419)	2.76893532
14	Abnormality of midbrain morphology (HP:0002418)	2.76893532
15	Dry hair (HP:0011359)	2.74541789
16	Pancreatic fibrosis (HP:0100732)	2.70413308
17	Cerebellar dysplasia (HP:0007033)	2.69431123
18	Chronic hepatic failure (HP:0100626)	2.68725487
19	Increased hepatocellular lipid droplets (HP:0006565)	2.64683895
20	Abnormality of the renal cortex (HP:0011035)	2.63519426
21	Neuroendocrine neoplasm (HP:0100634)	2.63082724
22	Hepatocellular necrosis (HP:0001404)	2.57077260
23	Cerebral edema (HP:0002181)	2.56953471
24	Patchy hypopigmentation of hair (HP:0011365)	2.49064919
25	Hepatic necrosis (HP:0002605)	2.48226711
26	Neoplasm of the adrenal cortex (HP:0100641)	2.44010139
27	Lipid accumulation in hepatocytes (HP:0006561)	2.39620195
28	Pheochromocytoma (HP:0002666)	2.38405735
29	Neoplasm of the adrenal gland (HP:0100631)	2.34572716
30	Abnormality of long-chain fatty-acid metabolism (HP:0010964)	2.33911516
31	True hermaphroditism (HP:0010459)	2.32982567
32	Optic disc pallor (HP:0000543)	2.30966241
33	Respiratory failure (HP:0002878)	2.29026824
34	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	2.26377330
35	Decreased activity of mitochondrial respiratory chain (HP:0008972)	2.26377330
36	Delayed CNS myelination (HP:0002188)	2.25409953
37	White forelock (HP:0002211)	2.24730058
38	Abnormal pancreas size (HP:0012094)	2.24672682
39	Hypobetalipoproteinemia (HP:0003563)	2.23019221
40	Ketoacidosis (HP:0001993)	2.18047315
41	Renal cortical cysts (HP:0000803)	2.16752625
42	Type I transferrin isoform profile (HP:0003642)	2.16289616
43	Medial flaring of the eyebrow (HP:0010747)	2.16228059
44	Renal Fanconi syndrome (HP:0001994)	2.15359560
45	Hypoplasia of the fovea (HP:0007750)	2.15184244
46	Aplasia/Hypoplasia of the fovea (HP:0008060)	2.15184244
47	Abdominal situs inversus (HP:0003363)	2.12476095
48	Abnormality of abdominal situs (HP:0011620)	2.12476095
49	Tongue fasciculations (HP:0001308)	2.12151126
50	Hyperglycemia (HP:0003074)	2.09629366
51	Nephronophthisis (HP:0000090)	2.09402648
52	Lissencephaly (HP:0001339)	2.07179849
53	Abnormality of renal resorption (HP:0011038)	2.05837856
54	Abnormality of the pons (HP:0007361)	2.05330732
55	Vascular calcification (HP:0004934)	2.05242821
56	Abnormality of aromatic amino acid family metabolism (HP:0004338)	2.03575211
57	Lethargy (HP:0001254)	2.01020560
58	Abnormal rod and cone electroretinograms (HP:0008323)	2.00670366
59	Limb dystonia (HP:0002451)	1.99654106
60	Increased serum pyruvate (HP:0003542)	1.98766630
61	Decreased circulating renin level (HP:0003351)	1.97533632
62	Hypoplasia of the pons (HP:0012110)	1.97165524
63	Adrenal hypoplasia (HP:0000835)	1.95530345
64	Furrowed tongue (HP:0000221)	1.93669629
65	Lactic acidosis (HP:0003128)	1.91190347
66	Increased serum lactate (HP:0002151)	1.88808083
67	Poor suck (HP:0002033)	1.87742133
68	Limb hypertonia (HP:0002509)	1.87497936
69	Hypoalbuminemia (HP:0003073)	1.86896705
70	Abnormal albumin level (HP:0012116)	1.86896705
71	Brushfield spots (HP:0001088)	1.85812495
72	Epiphyseal stippling (HP:0010655)	1.84248894
73	Decreased electroretinogram (ERG) amplitude (HP:0000654)	1.83748541
74	Large eyes (HP:0001090)	1.83663750
75	Leukodystrophy (HP:0002415)	1.83241192
76	Epileptic encephalopathy (HP:0200134)	1.82958187
77	Abnormality of urine glucose concentration (HP:0011016)	1.81835542
78	Glycosuria (HP:0003076)	1.81835542
79	Cystic liver disease (HP:0006706)	1.80579683
80	Prolonged QT interval (HP:0001657)	1.80541041
81	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	1.78661635
82	Abnormal protein N-linked glycosylation (HP:0012347)	1.78661635
83	Abnormal protein glycosylation (HP:0012346)	1.78661635
84	Abnormal glycosylation (HP:0012345)	1.78661635
85	Aplasia/Hypoplasia of the spleen (HP:0010451)	1.78620957
86	Abnormality of the renal medulla (HP:0100957)	1.77996928
87	Abnormality of glycolysis (HP:0004366)	1.76608472
88	Intestinal atresia (HP:0011100)	1.76415573
89	Abnormality of aspartate family amino acid metabolism (HP:0010899)	1.73305012
90	Anhidrosis (HP:0000970)	1.73034922
91	Asplenia (HP:0001746)	1.72415867
92	Hypokinesia (HP:0002375)	1.72014618
93	Progressive inability to walk (HP:0002505)	1.70948250
94	Hypoglycemic coma (HP:0001325)	1.70451882
95	Hypolipoproteinemia (HP:0010981)	1.69365421
96	Sclerocornea (HP:0000647)	1.67210755
97	Abnormality of alanine metabolism (HP:0010916)	1.67040658
98	Hyperalaninemia (HP:0003348)	1.67040658
99	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	1.67040658
100	Dialeptic seizures (HP:0011146)	1.66637993

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	4.99597793
2	EIF2AK3	3.00004266
3	TLK1	2.90079510
4	OXSR1	2.87991244
5	GRK1	2.64281094
6	ADRBK2	2.56152136
7	MAP3K12	2.54592637
8	PAK3	2.40004003
9	WNK4	2.38555996
10	NEK9	2.19116382
11	STK39	2.17466494
12	EIF2AK1	1.80859061
13	PHKG2	1.75765718
14	PHKG1	1.75765718
15	TXK	1.73251202
16	MST4	1.70170160
17	PLK2	1.68410235
18	DAPK2	1.67967365
19	STK38L	1.64155939
20	ZAK	1.57876502
21	MKNK2	1.52974825
22	WNK3	1.52413516
23	MAP2K6	1.46934659
24	NEK1	1.46607963
25	PRKCE	1.43815549
26	BMPR1B	1.41845929
27	NME1	1.41804500
28	PINK1	1.39423053
29	MAPK13	1.36681244
30	CASK	1.31565433
31	FGFR2	1.28519883
32	NUAK1	1.28159367
33	INSRR	1.22329160
34	MAP3K4	1.18019483
35	WEE1	1.12823581
36	CSNK1G2	1.12486837
37	PRKD3	1.10470462
38	FER	1.06185853
39	ADRBK1	1.03794161
40	MKNK1	1.02415947
41	CDK19	1.02393942
42	CCNB1	0.99552138
43	MINK1	0.98553833
44	PRKCI	0.97774800
45	PTK2B	0.96949378
46	PNCK	0.92002839
47	PLK3	0.90753805
48	UHMK1	0.89570399
49	PRKCG	0.84241562
50	TIE1	0.83996443
51	MYLK	0.83316717
52	CSNK1G3	0.82375011
53	LIMK1	0.80497333
54	ERBB3	0.74535006
55	MAP3K6	0.74380925
56	EPHA4	0.72971476
57	VRK2	0.71555562
58	MAP4K2	0.67008528
59	ACVR1B	0.64273946
60	STK3	0.63225951
61	STK24	0.62020039
62	CSNK1G1	0.61227596
63	TSSK6	0.59714276
64	CDK3	0.56685368
65	FGFR1	0.55154426
66	TGFBR1	0.53878225
67	WNK1	0.52885656
68	DAPK1	0.52745799
69	BUB1	0.52328444
70	CAMK2A	0.51932709
71	CAMKK2	0.50749838
72	MAP2K4	0.49149276
73	PDK2	0.49127712
74	STK16	0.48032533
75	EIF2AK2	0.47435106
76	OBSCN	0.47313969
77	BRSK2	0.46603477
78	CAMK2D	0.44944318
79	DAPK3	0.42017901
80	MAPKAPK3	0.40146374
81	ROCK1	0.38123270
82	PRKCA	0.37979971
83	PRKACA	0.35820862
84	PRKAA1	0.35273552
85	ITK	0.35150478
86	ILK	0.34606640
87	KIT	0.33593149
88	IKBKB	0.33213992
89	PRKACB	0.31894541
90	BCR	0.30526440
91	PRKG1	0.30323794
92	FLT3	0.30165108
93	VRK1	0.28884327
94	IGF1R	0.28727906
95	ERBB2	0.28319144
96	PRKCQ	0.27945032
97	MAP3K5	0.27678552
98	MAP2K1	0.27106642
99	CAMK4	0.25045517
100	TEC	0.24425468

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Maturity onset diabetes of the young_Homo sapiens_hsa04950	3.95999323
2	Protein export_Homo sapiens_hsa03060	3.49338032
3	Oxidative phosphorylation_Homo sapiens_hsa00190	3.38371125
4	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	3.17453585
5	Parkinsons disease_Homo sapiens_hsa05012	2.55260638
6	Butanoate metabolism_Homo sapiens_hsa00650	2.35086649
7	Proteasome_Homo sapiens_hsa03050	2.33657066
8	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	2.32060485
9	Propanoate metabolism_Homo sapiens_hsa00640	2.22679238
10	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.97668159
11	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.89764445
12	Tryptophan metabolism_Homo sapiens_hsa00380	1.88761491
13	Sulfur metabolism_Homo sapiens_hsa00920	1.74575071
14	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.73644475
15	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.72530918
16	Peroxisome_Homo sapiens_hsa04146	1.71242844
17	Alzheimers disease_Homo sapiens_hsa05010	1.63953579
18	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.63789559
19	Type I diabetes mellitus_Homo sapiens_hsa04940	1.63773649
20	Nitrogen metabolism_Homo sapiens_hsa00910	1.60679988
21	Huntingtons disease_Homo sapiens_hsa05016	1.58972092
22	Folate biosynthesis_Homo sapiens_hsa00790	1.55359948
23	Phototransduction_Homo sapiens_hsa04744	1.48986209
24	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.47107971
25	RNA polymerase_Homo sapiens_hsa03020	1.45016861
26	Cardiac muscle contraction_Homo sapiens_hsa04260	1.38201191
27	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.36617172
28	Selenocompound metabolism_Homo sapiens_hsa00450	1.34130692
29	beta-Alanine metabolism_Homo sapiens_hsa00410	1.28056360
30	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.24990842
31	Asthma_Homo sapiens_hsa05310	1.23266857
32	Steroid biosynthesis_Homo sapiens_hsa00100	1.21763321
33	Fatty acid elongation_Homo sapiens_hsa00062	1.19062981
34	Fatty acid degradation_Homo sapiens_hsa00071	1.15792713
35	Other glycan degradation_Homo sapiens_hsa00511	1.10392935
36	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.08174555
37	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	1.07238875
38	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.06109569
39	Fatty acid metabolism_Homo sapiens_hsa01212	1.05635775
40	Serotonergic synapse_Homo sapiens_hsa04726	1.05076781
41	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	1.03956238
42	Linoleic acid metabolism_Homo sapiens_hsa00591	1.03870733
43	Caffeine metabolism_Homo sapiens_hsa00232	0.99795337
44	Pyruvate metabolism_Homo sapiens_hsa00620	0.97071934
45	Insulin secretion_Homo sapiens_hsa04911	0.95501592
46	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.92331484
47	Chemical carcinogenesis_Homo sapiens_hsa05204	0.92328659
48	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.91761010
49	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.91533248
50	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.91295854
51	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.89096751
52	GABAergic synapse_Homo sapiens_hsa04727	0.88373066
53	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.87076893
54	Circadian rhythm_Homo sapiens_hsa04710	0.86298310
55	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.82910866
56	Retinol metabolism_Homo sapiens_hsa00830	0.80551322
57	Glutathione metabolism_Homo sapiens_hsa00480	0.78642533
58	Homologous recombination_Homo sapiens_hsa03440	0.74346220
59	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.73663226
60	Metabolic pathways_Homo sapiens_hsa01100	0.73071883
61	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.72974749
62	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.71727152
63	Morphine addiction_Homo sapiens_hsa05032	0.69927296
64	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.67138993
65	Fat digestion and absorption_Homo sapiens_hsa04975	0.65998985
66	Collecting duct acid secretion_Homo sapiens_hsa04966	0.65777098
67	Regulation of autophagy_Homo sapiens_hsa04140	0.62756095
68	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	0.62634555
69	Allograft rejection_Homo sapiens_hsa05330	0.62132730
70	Autoimmune thyroid disease_Homo sapiens_hsa05320	0.61133961
71	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.60747631
72	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.60687956
73	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.59161140
74	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.58662152
75	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.58157374
76	RNA degradation_Homo sapiens_hsa03018	0.57147415
77	Tyrosine metabolism_Homo sapiens_hsa00350	0.56125672
78	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.55249746
79	Nicotine addiction_Homo sapiens_hsa05033	0.54022642
80	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.53752520
81	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.53302627
82	Dopaminergic synapse_Homo sapiens_hsa04728	0.51059031
83	Pyrimidine metabolism_Homo sapiens_hsa00240	0.51050786
84	Purine metabolism_Homo sapiens_hsa00230	0.49907670
85	Graft-versus-host disease_Homo sapiens_hsa05332	0.49469299
86	Circadian entrainment_Homo sapiens_hsa04713	0.49048186
87	Mineral absorption_Homo sapiens_hsa04978	0.46762373
88	Histidine metabolism_Homo sapiens_hsa00340	0.45500912
89	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.44811562
90	Sphingolipid metabolism_Homo sapiens_hsa00600	0.43251777
91	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.42770043
92	Non-homologous end-joining_Homo sapiens_hsa03450	0.42499105
93	PPAR signaling pathway_Homo sapiens_hsa03320	0.39980517
94	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.39508332
95	Arginine biosynthesis_Homo sapiens_hsa00220	0.39041206
96	Rheumatoid arthritis_Homo sapiens_hsa05323	0.38627761
97	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.37732086
98	Fanconi anemia pathway_Homo sapiens_hsa03460	0.36665986
99	Taste transduction_Homo sapiens_hsa04742	0.36203823
100	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.35880116

PTP4A2P1

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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