ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	protein neddylation (GO:0045116)	7.70296766
2	platelet dense granule organization (GO:0060155)	5.45628562
3	adenosine metabolic process (GO:0046085)	4.80334555
4	sequestering of actin monomers (GO:0042989)	4.62803833
5	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	4.61725001
6	behavioral response to nicotine (GO:0035095)	4.25757436
7	DNA deamination (GO:0045006)	4.12756298
8	thrombin receptor signaling pathway (GO:0070493)	4.06142474
9	energy coupled proton transport, down electrochemical gradient (GO:0015985)	4.01520709
10	ATP synthesis coupled proton transport (GO:0015986)	4.01520709
11	regulation of Golgi to plasma membrane protein transport (GO:0042996)	4.00234352
12	proteasome assembly (GO:0043248)	3.97516013
13	protein complex biogenesis (GO:0070271)	3.73263277
14	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.71336500
15	NADH dehydrogenase complex assembly (GO:0010257)	3.71336500
16	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.71336500
17	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	3.60517006
18	serotonin receptor signaling pathway (GO:0007210)	3.57490541
19	negative regulation of norepinephrine secretion (GO:0010700)	3.56135816
20	electron transport chain (GO:0022900)	3.54011433
21	respiratory electron transport chain (GO:0022904)	3.51152511
22	mitochondrial respiratory chain complex assembly (GO:0033108)	3.49609906
23	negative regulation of calcium ion-dependent exocytosis (GO:0045955)	3.46624347
24	purine-containing compound salvage (GO:0043101)	3.33108670
25	purinergic nucleotide receptor signaling pathway (GO:0035590)	3.32284852
26	deoxyribonucleoside monophosphate metabolic process (GO:0009162)	3.26890324
27	glycerophospholipid catabolic process (GO:0046475)	3.26321237
28	relaxation of smooth muscle (GO:0044557)	3.22019314
29	coenzyme catabolic process (GO:0009109)	3.16559790
30	blood coagulation, intrinsic pathway (GO:0007597)	3.14167229
31	regulation of cilium movement (GO:0003352)	3.09851576
32	positive regulation of amino acid transport (GO:0051957)	3.09451886
33	hydrogen ion transmembrane transport (GO:1902600)	3.01573697
34	positive regulation of cAMP-mediated signaling (GO:0043950)	2.98304437
35	neurofilament cytoskeleton organization (GO:0060052)	2.91850208
36	pyrimidine deoxyribonucleotide catabolic process (GO:0009223)	2.91685075
37	establishment of protein localization to mitochondrial membrane (GO:0090151)	2.91527301
38	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	2.89236828
39	anterograde synaptic vesicle transport (GO:0048490)	2.86200826
40	proton transport (GO:0015992)	2.85425194
41	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	2.81671040
42	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	2.81671040
43	hydrogen transport (GO:0006818)	2.80429089
44	oxidative phosphorylation (GO:0006119)	2.79715260
45	phosphatidylinositol acyl-chain remodeling (GO:0036149)	2.76660247
46	regulation of norepinephrine secretion (GO:0014061)	2.76144341
47	inner mitochondrial membrane organization (GO:0007007)	2.74167706
48	negative regulation of telomere maintenance (GO:0032205)	2.73882507
49	artery smooth muscle contraction (GO:0014824)	2.71602537
50	negative regulation of membrane potential (GO:0045837)	2.71397200
51	organelle disassembly (GO:1903008)	2.70825903
52	negative regulation of heart rate (GO:0010459)	2.70507366
53	pyrimidine deoxyribonucleotide metabolic process (GO:0009219)	2.68529126
54	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	2.66171875
55	tonic smooth muscle contraction (GO:0014820)	2.65936050
56	negative regulation of smooth muscle contraction (GO:0045986)	2.65234641
57	pyrimidine nucleoside catabolic process (GO:0046135)	2.63222986
58	positive regulation of prostaglandin secretion (GO:0032308)	2.62502155
59	synaptic transmission, cholinergic (GO:0007271)	2.61821990
60	negative regulation of protein oligomerization (GO:0032460)	2.59412228
61	ribonucleoprotein complex disassembly (GO:0032988)	2.59030213
62	cellular biogenic amine catabolic process (GO:0042402)	2.57776770
63	amine catabolic process (GO:0009310)	2.57776770
64	chaperone-mediated protein transport (GO:0072321)	2.57723976
65	negative regulation of thymocyte apoptotic process (GO:0070244)	2.56795780
66	negative regulation of response to food (GO:0032096)	2.56459935
67	negative regulation of appetite (GO:0032099)	2.56459935
68	base-excision repair, AP site formation (GO:0006285)	2.53710568
69	piRNA metabolic process (GO:0034587)	2.53218519
70	positive regulation of protein homodimerization activity (GO:0090073)	2.49981356
71	purine nucleotide salvage (GO:0032261)	2.47313480
72	regulation of meiosis I (GO:0060631)	2.45076236
73	triglyceride-rich lipoprotein particle remodeling (GO:0034370)	2.44392614
74	S-adenosylmethionine metabolic process (GO:0046500)	2.43689153
75	positive regulation of organic acid transport (GO:0032892)	2.40082685
76	phosphorylated carbohydrate dephosphorylation (GO:0046838)	2.38966465
77	inositol phosphate dephosphorylation (GO:0046855)	2.38966465
78	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	2.38733413
79	respiratory chain complex IV assembly (GO:0008535)	2.38566501
80	pyrimidine nucleotide catabolic process (GO:0006244)	2.38248250
81	positive regulation of T cell cytokine production (GO:0002726)	2.38082183
82	negative regulation of muscle contraction (GO:0045932)	2.36261335
83	regulation of platelet activation (GO:0010543)	2.35371347
84	inositol phosphate catabolic process (GO:0071545)	2.34867116
85	transcription elongation from RNA polymerase III promoter (GO:0006385)	2.33822597
86	termination of RNA polymerase III transcription (GO:0006386)	2.33822597
87	pyrimidine-containing compound catabolic process (GO:0072529)	2.33117590
88	cellular ketone body metabolic process (GO:0046950)	2.32978980
89	microtubule depolymerization (GO:0007019)	2.32188846
90	gamma-aminobutyric acid transport (GO:0015812)	2.31922560
91	DNA double-strand break processing (GO:0000729)	2.31683179
92	mast cell degranulation (GO:0043303)	2.31675847
93	mast cell activation involved in immune response (GO:0002279)	2.31675847
94	positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:00357	2.30316880
95	epithelial cilium movement (GO:0003351)	2.29855046
96	anterograde axon cargo transport (GO:0008089)	2.29753430
97	negative regulation of catecholamine secretion (GO:0033604)	2.29283508
98	low-density lipoprotein particle remodeling (GO:0034374)	2.29006300
99	deoxyribonucleotide catabolic process (GO:0009264)	2.28903639
100	deoxyribose phosphate biosynthetic process (GO:0046385)	2.28806043

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	3.39684568
2	VDR_22108803_ChIP-Seq_LS180_Human	3.19464673
3	GBX2_23144817_ChIP-Seq_PC3_Human	2.94674845
4	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	2.92181797
5	TAF15_26573619_Chip-Seq_HEK293_Human	2.90287979
6	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.73759335
7	ZNF274_21170338_ChIP-Seq_K562_Hela	2.72120173
8	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	2.67241449
9	EWS_26573619_Chip-Seq_HEK293_Human	2.51428314
10	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.44943998
11	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.25690279
12	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.21222642
13	IGF1R_20145208_ChIP-Seq_DFB_Human	2.17095192
14	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.10444927
15	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.06626082
16	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.01807480
17	FUS_26573619_Chip-Seq_HEK293_Human	1.98682963
18	IRF1_21803131_ChIP-Seq_MONOCYTES_Human	1.93508675
19	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	1.92063189
20	MYC_18940864_ChIP-ChIP_HL60_Human	1.79229052
21	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.77302773
22	P300_19829295_ChIP-Seq_ESCs_Human	1.75509894
23	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.73211860
24	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.72995711
25	ER_23166858_ChIP-Seq_MCF-7_Human	1.70031704
26	HTT_18923047_ChIP-ChIP_STHdh_Human	1.68235646
27	EZH2_22144423_ChIP-Seq_EOC_Human	1.67839257
28	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.67461390
29	ELK1_19687146_ChIP-ChIP_HELA_Human	1.67156273
30	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.66785155
31	TP53_22573176_ChIP-Seq_HFKS_Human	1.62538478
32	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.59656452
33	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.59034018
34	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.55689932
35	VDR_23849224_ChIP-Seq_CD4+_Human	1.52062005
36	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.47558737
37	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.47027108
38	CBP_20019798_ChIP-Seq_JUKART_Human	1.47027108
39	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.42161140
40	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.40017443
41	BCAT_22108803_ChIP-Seq_LS180_Human	1.37854767
42	SMAD4_21799915_ChIP-Seq_A2780_Human	1.37634164
43	SOX2_19829295_ChIP-Seq_ESCs_Human	1.34694409
44	NANOG_19829295_ChIP-Seq_ESCs_Human	1.34694409
45	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.34152582
46	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.34152582
47	AR_20517297_ChIP-Seq_VCAP_Human	1.33526684
48	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.31739327
49	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.31535061
50	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.31194136
51	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.29407225
52	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.27701852
53	AR_25329375_ChIP-Seq_VCAP_Human	1.27400738
54	RNF2_27304074_Chip-Seq_NSC_Mouse	1.23809845
55	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.22583688
56	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.22249820
57	IRF1_19129219_ChIP-ChIP_H3396_Human	1.21969952
58	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	1.21807730
59	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.20152096
60	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.17855719
61	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.17237046
62	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.16284895
63	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.15488028
64	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.15344266
65	NCOR_22424771_ChIP-Seq_293T_Human	1.15085234
66	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.13861728
67	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.13829135
68	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.12989448
69	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.12843319
70	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.11825906
71	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.10041278
72	TAL1_26923725_Chip-Seq_HPCs_Mouse	1.09653376
73	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.07994093
74	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.06405950
75	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.05757678
76	SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	1.05481743
77	TCF4_23295773_ChIP-Seq_U87_Human	1.05076872
78	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.03800376
79	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.03755366
80	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.01870727
81	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.01797179
82	FOXP3_21729870_ChIP-Seq_TREG_Human	1.01662623
83	PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse	1.00722016
84	TCF4_22108803_ChIP-Seq_LS180_Human	1.00602233
85	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	0.98767331
86	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	0.98764596
87	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	0.98276857
88	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	0.98219319
89	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.98111789
90	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	0.98111789
91	IRF8_22096565_ChIP-ChIP_GC-B_Mouse	0.98028786
92	GATA3_26560356_Chip-Seq_TH2_Human	0.97965299
93	LMO2_20887958_ChIP-Seq_HPC-7_Mouse	0.97518358
94	IRF8_21731497_ChIP-ChIP_J774_Mouse	0.96547524
95	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	0.95730817
96	NANOG_18555785_Chip-Seq_ESCs_Mouse	0.95495956
97	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	0.95132365
98	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	0.94908020
99	JUN_21703547_ChIP-Seq_K562_Human	0.94435405
100	SALL4_22934838_ChIP-ChIP_CD34+_Human	0.94423620

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0005464_abnormal_platelet_physiology	3.95914303
2	MP0010386_abnormal_urinary_bladder	3.90189458
3	MP0005084_abnormal_gallbladder_morpholo	2.89213071
4	MP0003283_abnormal_digestive_organ	2.73695356
5	MP0002735_abnormal_chemical_nociception	2.68401179
6	MP0005646_abnormal_pituitary_gland	2.46998098
7	MP0002138_abnormal_hepatobiliary_system	2.44974247
8	MP0001986_abnormal_taste_sensitivity	2.40316367
9	MP0002653_abnormal_ependyma_morphology	2.25836534
10	MP0003724_increased_susceptibility_to	2.20092681
11	MP0000372_irregular_coat_pigmentation	2.10030596
12	MP0006072_abnormal_retinal_apoptosis	2.00938184
13	MP0008872_abnormal_physiological_respon	1.98893634
14	MP0002837_dystrophic_cardiac_calcinosis	1.97384115
15	MP0002102_abnormal_ear_morphology	1.88298265
16	MP0003195_calcinosis	1.83437009
17	MP0004742_abnormal_vestibular_system	1.81828885
18	MP0004215_abnormal_myocardial_fiber	1.81354142
19	MP0005410_abnormal_fertilization	1.78889305
20	MP0009046_muscle_twitch	1.74756583
21	MP0001968_abnormal_touch/_nociception	1.74061934
22	MP0000230_abnormal_systemic_arterial	1.72931380
23	MP0005671_abnormal_response_to	1.71016725
24	MP0002736_abnormal_nociception_after	1.70257700
25	MP0006276_abnormal_autonomic_nervous	1.67652303
26	MP0002272_abnormal_nervous_system	1.63930572
27	MP0001970_abnormal_pain_threshold	1.60886452
28	MP0002733_abnormal_thermal_nociception	1.59037575
29	MP0001879_abnormal_lymphatic_vessel	1.57017560
30	MP0006036_abnormal_mitochondrial_physio	1.55755062
31	MP0005551_abnormal_eye_electrophysiolog	1.50021966
32	MP0002638_abnormal_pupillary_reflex	1.44386921
33	MP0001905_abnormal_dopamine_level	1.44032336
34	MP0005167_abnormal_blood-brain_barrier	1.42749567
35	MP0001486_abnormal_startle_reflex	1.42730089
36	MP0001756_abnormal_urination	1.39103599
37	MP0008004_abnormal_stomach_pH	1.37697337
38	MP0006035_abnormal_mitochondrial_morpho	1.33626222
39	MP0008775_abnormal_heart_ventricle	1.30622301
40	MP0002163_abnormal_gland_morphology	1.29670443
41	MP0009697_abnormal_copulation	1.29149217
42	MP0004147_increased_porphyrin_level	1.27812637
43	MP0009764_decreased_sensitivity_to	1.22990535
44	MP0004142_abnormal_muscle_tone	1.21837011
45	MP0009745_abnormal_behavioral_response	1.20791828
46	MP0002277_abnormal_respiratory_mucosa	1.19477968
47	MP0003186_abnormal_redox_activity	1.18810503
48	MP0003806_abnormal_nucleotide_metabolis	1.16116919
49	MP0001835_abnormal_antigen_presentation	1.15203413
50	MP0005645_abnormal_hypothalamus_physiol	1.14922188
51	MP0001984_abnormal_olfaction	1.12658527
52	MP0001485_abnormal_pinna_reflex	1.11222529
53	MP0002557_abnormal_social/conspecific_i	1.10390257
54	MP0002909_abnormal_adrenal_gland	1.06967342
55	MP0003638_abnormal_response/metabolism_	1.06595528
56	MP0008877_abnormal_DNA_methylation	1.06289753
57	MP0005535_abnormal_body_temperature	1.05889533
58	MP0008058_abnormal_DNA_repair	1.05786498
59	MP0002693_abnormal_pancreas_physiology	1.05762035
60	MP0005253_abnormal_eye_physiology	1.04839565
61	MP0010329_abnormal_lipoprotein_level	1.03573413
62	MP0003011_delayed_dark_adaptation	1.03494703
63	MP0005332_abnormal_amino_acid	1.03360254
64	MP0003303_peritoneal_inflammation	1.03014484
65	MP0005075_abnormal_melanosome_morpholog	1.01724132
66	MP0001501_abnormal_sleep_pattern	1.01545334
67	MP0004134_abnormal_chest_morphology	1.00634135
68	MP0000538_abnormal_urinary_bladder	1.00158472
69	MP0002064_seizures	0.99528496
70	MP0002148_abnormal_hypersensitivity_rea	0.99439058
71	MP0004085_abnormal_heartbeat	0.98731000
72	MP0000343_altered_response_to	0.98421637
73	MP0000465_gastrointestinal_hemorrhage	0.96349075
74	MP0003880_abnormal_central_pattern	0.95049043
75	MP0005220_abnormal_exocrine_pancreas	0.92878478
76	MP0002572_abnormal_emotion/affect_behav	0.92218782
77	MP0002067_abnormal_sensory_capabilities	0.90546482
78	MP0005636_abnormal_mineral_homeostasis	0.87771653
79	MP0003718_maternal_effect	0.84869584
80	MP0002009_preneoplasia	0.82885001
81	MP0002332_abnormal_exercise_endurance	0.81608198
82	MP0000569_abnormal_digit_pigmentation	0.81224000
83	MP0003866_abnormal_defecation	0.80551290
84	MP0001663_abnormal_digestive_system	0.80361427
85	MP0005448_abnormal_energy_balance	0.78304455
86	MP0006292_abnormal_olfactory_placode	0.77139110
87	MP0004885_abnormal_endolymph	0.77028024
88	MP0005266_abnormal_metabolism	0.76842049
89	MP0005000_abnormal_immune_tolerance	0.75774697
90	MP0001664_abnormal_digestion	0.75685525
91	MP0005389_reproductive_system_phenotype	0.75090953
92	MP0003787_abnormal_imprinting	0.74009576
93	MP0005365_abnormal_bile_salt	0.73505473
94	MP0002751_abnormal_autonomic_nervous	0.72711107
95	MP0005647_abnormal_sex_gland	0.72135304
96	MP0003635_abnormal_synaptic_transmissio	0.70221283
97	MP0010094_abnormal_chromosome_stability	0.68707910
98	MP0001188_hyperpigmentation	0.68479247
99	MP0001765_abnormal_ion_homeostasis	0.66646459
100	MP0005187_abnormal_penis_morphology	0.66104982

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Acute necrotizing encephalopathy (HP:0006965)	4.45322957
2	Progressive macrocephaly (HP:0004481)	4.15785266
3	Prolonged bleeding time (HP:0003010)	4.10511606
4	Abnormal mitochondria in muscle tissue (HP:0008316)	4.01002217
5	Acute encephalopathy (HP:0006846)	3.96182934
6	3-Methylglutaconic aciduria (HP:0003535)	3.70998713
7	Abolished electroretinogram (ERG) (HP:0000550)	3.41240066
8	Mitochondrial inheritance (HP:0001427)	3.40024968
9	Petechiae (HP:0000967)	3.18396388
10	Congenital, generalized hypertrichosis (HP:0004540)	3.11792571
11	Hyperlipoproteinemia (HP:0010980)	3.09573431
12	Cerebral edema (HP:0002181)	3.07690861
13	Menorrhagia (HP:0000132)	3.06378028
14	Dynein arm defect of respiratory motile cilia (HP:0012255)	3.05735683
15	Absent/shortened dynein arms (HP:0200106)	3.05735683
16	Increased mean platelet volume (HP:0011877)	2.97916798
17	Increased CSF lactate (HP:0002490)	2.97557431
18	Nausea (HP:0002018)	2.97349140
19	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	2.94399532
20	Decreased activity of mitochondrial respiratory chain (HP:0008972)	2.94399532
21	Abnormality of midbrain morphology (HP:0002418)	2.92512919
22	Molar tooth sign on MRI (HP:0002419)	2.92512919
23	Abnormal ciliary motility (HP:0012262)	2.90063826
24	Generalized aminoaciduria (HP:0002909)	2.86064186
25	Hepatic necrosis (HP:0002605)	2.83041606
26	Pancreatic cysts (HP:0001737)	2.82763103
27	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.78052303
28	Aplastic anemia (HP:0001915)	2.74705361
29	Constricted visual fields (HP:0001133)	2.71298965
30	Abnormal platelet volume (HP:0011876)	2.68506072
31	Decreased central vision (HP:0007663)	2.66587590
32	Abnormal respiratory motile cilium morphology (HP:0005938)	2.66577899
33	Abnormal respiratory epithelium morphology (HP:0012253)	2.66577899
34	Hepatocellular necrosis (HP:0001404)	2.56304271
35	Polyphagia (HP:0002591)	2.51685958
36	Pancreatic fibrosis (HP:0100732)	2.49486907
37	True hermaphroditism (HP:0010459)	2.43119647
38	Epistaxis (HP:0000421)	2.39694668
39	Optic disc pallor (HP:0000543)	2.37131850
40	Stomach cancer (HP:0012126)	2.33827607
41	Dyschromatopsia (HP:0007641)	2.29371826
42	Lactic acidosis (HP:0003128)	2.28260480
43	Purpura (HP:0000979)	2.27273433
44	Abnormal rod and cone electroretinograms (HP:0008323)	2.23957705
45	Nephronophthisis (HP:0000090)	2.23938925
46	Attenuation of retinal blood vessels (HP:0007843)	2.23669109
47	Lethargy (HP:0001254)	2.18394231
48	Hypothermia (HP:0002045)	2.17243239
49	Abnormality of the renal cortex (HP:0011035)	2.16329485
50	Abnormal respiratory motile cilium physiology (HP:0012261)	2.12778132
51	Type 2 muscle fiber atrophy (HP:0003554)	2.11537510
52	Renal cortical cysts (HP:0000803)	2.09826010
53	Increased serum lactate (HP:0002151)	2.08607287
54	Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)	2.08570189
55	Degeneration of the lateral corticospinal tracts (HP:0002314)	2.08570189
56	Exertional dyspnea (HP:0002875)	2.07469933
57	Abnormal drinking behavior (HP:0030082)	2.06195136
58	Polydipsia (HP:0001959)	2.06195136
59	Hyperglycinuria (HP:0003108)	2.04774193
60	Degeneration of anterior horn cells (HP:0002398)	2.04027864
61	Abnormality of the anterior horn cell (HP:0006802)	2.04027864
62	Impaired platelet aggregation (HP:0003540)	2.00811158
63	Abnormal platelet function (HP:0011869)	2.00811158
64	Renal Fanconi syndrome (HP:0001994)	2.00803391
65	Pendular nystagmus (HP:0012043)	2.00008007
66	Decreased electroretinogram (ERG) amplitude (HP:0000654)	1.98898305
67	Respiratory failure (HP:0002878)	1.97394836
68	Increased hepatocellular lipid droplets (HP:0006565)	1.97361305
69	Hypomagnesemia (HP:0002917)	1.95357170
70	Ulnar claw (HP:0001178)	1.93499666
71	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	1.90705311
72	Abnormality of alanine metabolism (HP:0010916)	1.90705311
73	Hyperalaninemia (HP:0003348)	1.90705311
74	Leukodystrophy (HP:0002415)	1.90522817
75	Type I transferrin isoform profile (HP:0003642)	1.83380267
76	Hyperglycinemia (HP:0002154)	1.82675819
77	Bony spicule pigmentary retinopathy (HP:0007737)	1.82636849
78	Stomatitis (HP:0010280)	1.82505699
79	Hemiparesis (HP:0001269)	1.82117033
80	Lipid accumulation in hepatocytes (HP:0006561)	1.80889696
81	Medial flaring of the eyebrow (HP:0010747)	1.80324892
82	Focal motor seizures (HP:0011153)	1.79470265
83	Abnormality of the renal medulla (HP:0100957)	1.79309940
84	Congenital stationary night blindness (HP:0007642)	1.77581090
85	Polyuria (HP:0000103)	1.76548652
86	Fair hair (HP:0002286)	1.75715275
87	Lissencephaly (HP:0001339)	1.74440533
88	Pancytopenia (HP:0001876)	1.73582795
89	Biliary tract neoplasm (HP:0100574)	1.73057203
90	Abnormality of urine glucose concentration (HP:0011016)	1.72120498
91	Glycosuria (HP:0003076)	1.72120498
92	Pancreatic islet-cell hyperplasia (HP:0004510)	1.71707629
93	Abnormality of the prostate (HP:0008775)	1.67623580
94	Intestinal atresia (HP:0011100)	1.67402702
95	Muscle fiber atrophy (HP:0100295)	1.67049276
96	Hypoplasia of the fovea (HP:0007750)	1.66831295
97	Aplasia/Hypoplasia of the fovea (HP:0008060)	1.66831295
98	Exercise intolerance (HP:0003546)	1.66381402
99	Abnormal pupillary function (HP:0007686)	1.66075040
100	Increased intramyocellular lipid droplets (HP:0012240)	1.65891235

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	MAP3K12	4.84958064
2	MST4	3.88689169
3	WNK3	3.00022310
4	ZAK	2.68043616
5	FRK	2.50779965
6	TIE1	2.49206781
7	ADRBK2	2.42935020
8	OXSR1	2.09979942
9	TEC	1.91715125
10	TXK	1.84587495
11	TAOK3	1.83523518
12	GRK1	1.83395842
13	EIF2AK1	1.78169307
14	MYLK	1.76417137
15	MAP4K2	1.73234512
16	FES	1.72486121
17	VRK2	1.71858051
18	KIT	1.69999017
19	BMPR1B	1.69463663
20	NUAK1	1.67904029
21	STK39	1.57286158
22	MAPK13	1.46135829
23	IRAK1	1.39399031
24	BCKDK	1.33596319
25	DYRK2	1.31356587
26	MAP3K4	1.26347703
27	TLK1	1.21536659
28	DAPK1	1.18897699
29	SYK	1.16343291
30	VRK1	1.11413295
31	DAPK2	1.07696623
32	PIK3CG	1.04765885
33	PLK3	1.03903317
34	INSRR	1.01722951
35	MATK	1.01637316
36	PTK2B	1.00129035
37	RIPK4	0.99905594
38	ADRBK1	0.99665040
39	EIF2AK3	0.97605561
40	WNK4	0.96788521
41	GRK5	0.92959265
42	CSF1R	0.91668525
43	BTK	0.90733208
44	EPHA3	0.89293437
45	MAPKAPK3	0.88442301
46	MINK1	0.86096520
47	IKBKB	0.85768089
48	ITK	0.85205462
49	PLK4	0.78836695
50	NEK1	0.78432957
51	PNCK	0.76038490
52	CDK8	0.73622753
53	CSNK1G1	0.72218427
54	LYN	0.71693469
55	TRIM28	0.71379744
56	PHKG1	0.71053726
57	PHKG2	0.71053726
58	FER	0.70736770
59	CSNK1G2	0.70554823
60	BMX	0.70275328
61	BCR	0.68422901
62	NLK	0.68290590
63	MAP2K4	0.66851571
64	PRKCE	0.64951804
65	CSNK1G3	0.64235508
66	NEK2	0.59265451
67	MAP2K7	0.59183291
68	ILK	0.59039788
69	MKNK1	0.58099287
70	ACVR1B	0.56778217
71	PLK2	0.56626545
72	DAPK3	0.56093215
73	PRKCQ	0.55195751
74	NTRK3	0.53493418
75	ERBB3	0.53362893
76	PRKCG	0.53221520
77	TNK2	0.53094017
78	CHEK2	0.52633869
79	LMTK2	0.52264774
80	PASK	0.51406303
81	GRK7	0.49638784
82	MAP3K11	0.48063042
83	MKNK2	0.47150871
84	MARK1	0.46642909
85	HCK	0.46168307
86	CAMKK2	0.45957685
87	TSSK6	0.45401950
88	PINK1	0.45359889
89	IRAK2	0.45285850
90	BRSK2	0.44466685
91	GRK6	0.42782247
92	IGF1R	0.42669821
93	MAP3K5	0.42519629
94	PAK3	0.41899583
95	ABL2	0.40598032
96	IKBKE	0.40018956
97	STK16	0.39569346
98	PRKCA	0.38741752
99	CAMK2A	0.38617640
100	PRKG1	0.38447386

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Oxidative phosphorylation_Homo sapiens_hsa00190	3.93588247
2	Parkinsons disease_Homo sapiens_hsa05012	3.42727753
3	Proteasome_Homo sapiens_hsa03050	2.45007558
4	Protein export_Homo sapiens_hsa03060	2.23026715
5	Collecting duct acid secretion_Homo sapiens_hsa04966	2.18736075
6	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	2.03457003
7	Alzheimers disease_Homo sapiens_hsa05010	2.01432458
8	Huntingtons disease_Homo sapiens_hsa05016	1.99012352
9	Nitrogen metabolism_Homo sapiens_hsa00910	1.86546647
10	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.79959244
11	Cardiac muscle contraction_Homo sapiens_hsa04260	1.78352859
12	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.73855996
13	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.72525112
14	Linoleic acid metabolism_Homo sapiens_hsa00591	1.71407671
15	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.70857351
16	Phototransduction_Homo sapiens_hsa04744	1.69627747
17	RNA polymerase_Homo sapiens_hsa03020	1.69522965
18	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	1.68990783
19	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.68183504
20	Fatty acid elongation_Homo sapiens_hsa00062	1.57996670
21	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.53273692
22	Mismatch repair_Homo sapiens_hsa03430	1.53195146
23	Nicotine addiction_Homo sapiens_hsa05033	1.51773760
24	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.49084330
25	Asthma_Homo sapiens_hsa05310	1.48608513
26	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.46820831
27	Basal transcription factors_Homo sapiens_hsa03022	1.36746387
28	Platelet activation_Homo sapiens_hsa04611	1.35062973
29	Homologous recombination_Homo sapiens_hsa03440	1.32428003
30	Ether lipid metabolism_Homo sapiens_hsa00565	1.30143267
31	Ribosome_Homo sapiens_hsa03010	1.27466772
32	Selenocompound metabolism_Homo sapiens_hsa00450	1.26056200
33	Butanoate metabolism_Homo sapiens_hsa00650	1.25873723
34	Type I diabetes mellitus_Homo sapiens_hsa04940	1.23353272
35	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.23029129
36	RNA degradation_Homo sapiens_hsa03018	1.23026678
37	Rheumatoid arthritis_Homo sapiens_hsa05323	1.21506165
38	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.21403268
39	One carbon pool by folate_Homo sapiens_hsa00670	1.18610370
40	Serotonergic synapse_Homo sapiens_hsa04726	1.16655635
41	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	1.13573107
42	Pyrimidine metabolism_Homo sapiens_hsa00240	1.10902815
43	Glutathione metabolism_Homo sapiens_hsa00480	1.09883820
44	Peroxisome_Homo sapiens_hsa04146	1.08739195
45	Allograft rejection_Homo sapiens_hsa05330	1.08332722
46	Purine metabolism_Homo sapiens_hsa00230	1.05517949
47	Sulfur metabolism_Homo sapiens_hsa00920	1.05172138
48	Autoimmune thyroid disease_Homo sapiens_hsa05320	1.04687692
49	Olfactory transduction_Homo sapiens_hsa04740	1.04526262
50	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.04440854
51	Fanconi anemia pathway_Homo sapiens_hsa03460	1.03506150
52	Taste transduction_Homo sapiens_hsa04742	1.03217653
53	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.02538599
54	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.96854541
55	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.94989629
56	Morphine addiction_Homo sapiens_hsa05032	0.94500385
57	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.94095873
58	Base excision repair_Homo sapiens_hsa03410	0.94046167
59	Hematopoietic cell lineage_Homo sapiens_hsa04640	0.89782527
60	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.88291555
61	Non-homologous end-joining_Homo sapiens_hsa03450	0.86776071
62	Primary immunodeficiency_Homo sapiens_hsa05340	0.84178074
63	Regulation of autophagy_Homo sapiens_hsa04140	0.84024104
64	Graft-versus-host disease_Homo sapiens_hsa05332	0.82048370
65	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.81606289
66	GABAergic synapse_Homo sapiens_hsa04727	0.81395183
67	Circadian entrainment_Homo sapiens_hsa04713	0.78335346
68	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.76665884
69	Chemical carcinogenesis_Homo sapiens_hsa05204	0.76595889
70	Nucleotide excision repair_Homo sapiens_hsa03420	0.74950768
71	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	0.73984237
72	Tryptophan metabolism_Homo sapiens_hsa00380	0.73652503
73	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.72395807
74	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.72043393
75	Sulfur relay system_Homo sapiens_hsa04122	0.70243838
76	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.69702145
77	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.69278610
78	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.68609057
79	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.67970705
80	Propanoate metabolism_Homo sapiens_hsa00640	0.66956574
81	beta-Alanine metabolism_Homo sapiens_hsa00410	0.64927918
82	Metabolic pathways_Homo sapiens_hsa01100	0.64771194
83	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.63933772
84	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.63219497
85	Steroid biosynthesis_Homo sapiens_hsa00100	0.60845167
86	DNA replication_Homo sapiens_hsa03030	0.58260540
87	Fat digestion and absorption_Homo sapiens_hsa04975	0.58210634
88	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.56186096
89	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.55981229
90	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.54675178
91	Glutamatergic synapse_Homo sapiens_hsa04724	0.51226809
92	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.51020059
93	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.48610545
94	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.46209733
95	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.44748976
96	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.44325696
97	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.43385074
98	Pancreatic secretion_Homo sapiens_hsa04972	0.37634275
99	Calcium signaling pathway_Homo sapiens_hsa04020	0.37307452
100	Glycerolipid metabolism_Homo sapiens_hsa00561	0.37031959

NT5C3AP1

Functional Annotation Prediction

Predicted biological processes (GO)

Predicted upstream transcription factors (ChEA)

Predicted mouse phenotypes (MGI)

Predicted human phenotypes

Predicted kinase interactions (KEA)

Predicted pathways (KEGG)

Most similar genes based on co-expression Upload to Enrichr

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