ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	regulation of protein polyubiquitination (GO:1902914)	9.01563264
2	catecholamine transport (GO:0051937)	7.98730847
3	neurotransmitter uptake (GO:0001504)	7.47633484
4	negative regulation of actin filament bundle assembly (GO:0032232)	7.38540019
5	regulation of mitochondrial fission (GO:0090140)	7.32235715
6	startle response (GO:0001964)	7.11647739
7	norepinephrine metabolic process (GO:0042415)	7.10428873
8	response to manganese ion (GO:0010042)	6.46748200
9	regulation of type B pancreatic cell apoptotic process (GO:2000674)	6.27372206
10	zinc ion homeostasis (GO:0055069)	5.88156203
11	regulation of mitochondrial translation (GO:0070129)	5.85341155
12	regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)	5.79331401
13	L-fucose catabolic process (GO:0042355)	5.31552861
14	fucose catabolic process (GO:0019317)	5.31552861
15	L-fucose metabolic process (GO:0042354)	5.31552861
16	cellular response to ammonium ion (GO:0071242)	5.29722978
17	monoamine transport (GO:0015844)	5.20606923
18	cellular response to catecholamine stimulus (GO:0071870)	4.55590580
19	cellular response to monoamine stimulus (GO:0071868)	4.55590580
20	regulation of dopamine secretion (GO:0014059)	4.54788552
21	negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)	4.40316704
22	regulation of actin nucleation (GO:0051125)	4.38321575
23	mitochondrion degradation (GO:0000422)	4.35588773
24	cellular response to toxic substance (GO:0097237)	4.11334398
25	cellular protein catabolic process (GO:0044257)	4.06288298
26	intra-S DNA damage checkpoint (GO:0031573)	4.04112929
27	phenylpropanoid metabolic process (GO:0009698)	3.96724147
28	positive regulation of DNA binding (GO:0043388)	3.94882382
29	response to monoamine (GO:0071867)	3.93606526
30	response to catecholamine (GO:0071869)	3.93606526
31	negative regulation of cellular carbohydrate metabolic process (GO:0010677)	3.92399615
32	apical protein localization (GO:0045176)	3.88136156
33	negative regulation of release of cytochrome c from mitochondria (GO:0090201)	3.84443691
34	regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)	3.80575979
35	negative regulation of reactive oxygen species metabolic process (GO:2000378)	3.66899647
36	response to pheromone (GO:0019236)	3.58340805
37	nitric oxide mediated signal transduction (GO:0007263)	3.56840845
38	dopamine metabolic process (GO:0042417)	3.53676965
39	platelet dense granule organization (GO:0060155)	3.52838339
40	xenobiotic catabolic process (GO:0042178)	3.51475542
41	protein import into peroxisome matrix (GO:0016558)	3.49909507
42	neuromuscular process controlling posture (GO:0050884)	3.46484174
43	mitochondrial fission (GO:0000266)	3.41050528
44	nitric oxide biosynthetic process (GO:0006809)	3.34706855
45	regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091	3.31801241
46	positive regulation of cytokine-mediated signaling pathway (GO:0001961)	3.20152870
47	negative regulation of carbohydrate metabolic process (GO:0045912)	3.19134589
48	interkinetic nuclear migration (GO:0022027)	3.17029150
49	positive regulation of response to cytokine stimulus (GO:0060760)	3.11492555
50	protein K63-linked ubiquitination (GO:0070534)	3.03748516
51	pteridine-containing compound biosynthetic process (GO:0042559)	2.96135281
52	negative regulation of insulin secretion (GO:0046676)	2.92240983
53	cellular response to interferon-beta (GO:0035458)	2.87497817
54	regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)	2.85269661
55	regulation of glycogen (starch) synthase activity (GO:2000465)	2.85011820
56	endocrine pancreas development (GO:0031018)	2.78580133
57	signal peptide processing (GO:0006465)	2.77690131
58	folic acid-containing compound biosynthetic process (GO:0009396)	2.75677914
59	cellular response to vitamin D (GO:0071305)	2.73856593
60	DNA deamination (GO:0045006)	2.72519533
61	regulation of catecholamine secretion (GO:0050433)	2.71095424
62	protein prenylation (GO:0018342)	2.70099457
63	prenylation (GO:0097354)	2.70099457
64	detection of light stimulus involved in visual perception (GO:0050908)	2.69160766
65	detection of light stimulus involved in sensory perception (GO:0050962)	2.69160766
66	peptidyl-histidine modification (GO:0018202)	2.68734336
67	positive regulation of lamellipodium organization (GO:1902745)	2.68430041
68	aspartate family amino acid catabolic process (GO:0009068)	2.64691964
69	protein autoubiquitination (GO:0051865)	2.64598055
70	grooming behavior (GO:0007625)	2.64584257
71	rRNA catabolic process (GO:0016075)	2.62634683
72	negative regulation of peptide hormone secretion (GO:0090278)	2.61968885
73	negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)	2.61765269
74	positive regulation of lamellipodium assembly (GO:0010592)	2.60719142
75	cytochrome complex assembly (GO:0017004)	2.55672481
76	negative regulation of gluconeogenesis (GO:0045721)	2.55276500
77	chemosensory behavior (GO:0007635)	2.54279600
78	C4-dicarboxylate transport (GO:0015740)	2.54176195
79	negative regulation of peptide secretion (GO:0002792)	2.52284647
80	regulation of granulocyte macrophage colony-stimulating factor production (GO:0032645)	2.51109144
81	regulation of synaptic vesicle transport (GO:1902803)	2.50061373
82	S-adenosylmethionine metabolic process (GO:0046500)	2.49088669
83	positive regulation of transcription regulatory region DNA binding (GO:2000679)	2.47326992
84	fucose metabolic process (GO:0006004)	2.46397888
85	response to hepatocyte growth factor (GO:0035728)	2.46245171
86	cellular response to hepatocyte growth factor stimulus (GO:0035729)	2.46245171
87	piRNA metabolic process (GO:0034587)	2.45102595
88	body morphogenesis (GO:0010171)	2.42923367
89	negative regulation of oxidative stress-induced cell death (GO:1903202)	2.42580488
90	hyperosmotic response (GO:0006972)	2.41540884
91	regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339	2.41235319
92	potassium ion export (GO:0071435)	2.40601867
93	erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)	2.38911361
94	regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902235	12.5608126
95	protein K6-linked ubiquitination (GO:0085020)	12.4516690
96	regulation of glucokinase activity (GO:0033131)	11.4741330
97	regulation of hexokinase activity (GO:1903299)	11.4741330
98	dopamine transport (GO:0015872)	10.8391336
99	regulation of oxidative stress-induced neuron death (GO:1903203)	10.2913888
100	positive regulation of mitochondrial fission (GO:0090141)	10.0737568

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	5.58046456
2	GATA1_22025678_ChIP-Seq_K562_Human	4.39743502
3	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	3.77882676
4	VDR_22108803_ChIP-Seq_LS180_Human	2.84132812
5	NOTCH1_21737748_ChIP-Seq_TLL_Human	2.66896118
6	ZNF274_21170338_ChIP-Seq_K562_Hela	2.63106483
7	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.55378082
8	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.50513765
9	SMAD_19615063_ChIP-ChIP_OVARY_Human	2.50406684
10	STAT6_20620947_ChIP-Seq_CD4_POS_T_Human	2.42566259
11	IRF8_22096565_ChIP-ChIP_GC-B_Human	2.40349869
12	IRF8_21731497_ChIP-ChIP_J774_Mouse	2.32447349
13	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.31913961
14	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	2.19812401
15	ELK1_19687146_ChIP-ChIP_HELA_Human	2.09156684
16	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	2.08026307
17	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.07251873
18	BCAT_22108803_ChIP-Seq_LS180_Human	2.01782167
19	IGF1R_20145208_ChIP-Seq_DFB_Human	1.98011330
20	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.95861313
21	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.92388087
22	FOXP3_17237761_ChIP-ChIP_TREG_Mouse	1.92367069
23	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.80356039
24	P300_19829295_ChIP-Seq_ESCs_Human	1.79249272
25	ER_23166858_ChIP-Seq_MCF-7_Human	1.78026900
26	SMAD4_19686287_ChIP-ChIP_HaCaT_Human	1.71284663
27	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.61810382
28	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.61079021
29	EWS_26573619_Chip-Seq_HEK293_Human	1.58970944
30	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.58024823
31	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	1.56729888
32	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.54602065
33	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.53061756
34	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.52988326
35	CBP_20019798_ChIP-Seq_JUKART_Human	1.52988326
36	NCOR_22424771_ChIP-Seq_293T_Human	1.52708663
37	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.51661039
38	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.50191043
39	TCF4_22108803_ChIP-Seq_LS180_Human	1.47128320
40	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.46361785
41	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.43381282
42	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.41593563
43	ELK1_22589737_ChIP-Seq_MCF10A_Human	1.39066196
44	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.38548422
45	IRF1_21803131_ChIP-Seq_MONOCYTES_Human	1.34795294
46	IRF8_22096565_ChIP-ChIP_GC-B_Mouse	1.34153920
47	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.31349129
48	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.31121005
49	CDX2_22108803_ChIP-Seq_LS180_Human	1.29237158
50	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.26616333
51	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.26493257
52	TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human	1.25591770
53	MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse	1.25449302
54	P53_22387025_ChIP-Seq_ESCs_Mouse	1.24645660
55	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.24377654
56	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.24190504
57	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.23851877
58	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.21672138
59	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.21621624
60	CMYC_18555785_Chip-Seq_ESCs_Mouse	1.20560872
61	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.20214035
62	EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse	1.19976771
63	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.17271275
64	FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.16934390
65	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.16891128
66	SMAD4_21799915_ChIP-Seq_A2780_Human	1.16342176
67	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.14287788
68	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.14287788
69	SUZ12_18555785_Chip-Seq_ESCs_Mouse	1.14239173
70	SOX2_19829295_ChIP-Seq_ESCs_Human	1.13164573
71	NANOG_19829295_ChIP-Seq_ESCs_Human	1.13164573
72	TCF4_23295773_ChIP-Seq_U87_Human	1.12674593
73	STAT3_18555785_Chip-Seq_ESCs_Mouse	1.12666516
74	STAT3_23295773_ChIP-Seq_U87_Human	1.12510189
75	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.10523137
76	PCGF4_22325352_ChIP-Seq_293T-Rex_Human	1.10035433
77	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.09593001
78	P300_18555785_Chip-Seq_ESCs_Mouse	1.07438281
79	NMYC_18555785_Chip-Seq_ESCs_Mouse	1.07086993
80	E2F1_18555785_Chip-Seq_ESCs_Mouse	1.06774746
81	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.06675488
82	AR_25329375_ChIP-Seq_VCAP_Human	1.06443126
83	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.04955763
84	ERG_20517297_ChIP-Seq_VCAP_Human	1.04620974
85	SOX2_18555785_Chip-Seq_ESCs_Mouse	1.04510789
86	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.04172387
87	RUNX1_27457419_Chip-Seq_LIVER_Mouse	1.04108624
88	OCT4_21477851_ChIP-Seq_ESCs_Mouse	1.03620210
89	RBPJ_21746931_ChIP-Seq_IB4_Human	1.03146335
90	RUNX2_22187159_ChIP-Seq_PCA_Human	1.02834661
91	OCT4_18555785_Chip-Seq_ESCs_Mouse	1.01402264
92	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.00948061
93	VDR_23849224_ChIP-Seq_CD4+_Human	1.00813858
94	FOXH1_21741376_ChIP-Seq_EPCs_Human	1.00312569
95	ZFX_18555785_Chip-Seq_ESCs_Mouse	1.00183635
96	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.00118883
97	FUS_26573619_Chip-Seq_HEK293_Human	0.98528413
98	GATA6_21074721_ChIP-Seq_CACO-2_Mouse	0.97284632
99	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	0.96893102
100	ETV1_20927104_ChIP-Seq_GIST48_Human	0.96520421

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0008877_abnormal_DNA_methylation	4.77695147
2	MP0003195_calcinosis	4.60499685
3	MP0003283_abnormal_digestive_organ	3.54039502
4	MP0008995_early_reproductive_senescence	3.46912937
5	MP0005423_abnormal_somatic_nervous	3.24717952
6	MP0005379_endocrine/exocrine_gland_phen	3.22658555
7	MP0006072_abnormal_retinal_apoptosis	2.94260770
8	MP0005646_abnormal_pituitary_gland	2.85873667
9	MP0003879_abnormal_hair_cell	2.79715792
10	MP0003172_abnormal_lysosome_physiology	2.78064742
11	MP0003300_gastrointestinal_ulcer	2.64722808
12	MP0003787_abnormal_imprinting	2.41596744
13	MP0006035_abnormal_mitochondrial_morpho	2.40875364
14	MP0006036_abnormal_mitochondrial_physio	2.35453482
15	MP0005220_abnormal_exocrine_pancreas	2.35421254
16	MP0003186_abnormal_redox_activity	2.30799058
17	MP0004885_abnormal_endolymph	2.24462208
18	MP0001485_abnormal_pinna_reflex	2.21791646
19	MP0003123_paternal_imprinting	2.15595815
20	MP0001905_abnormal_dopamine_level	1.97774724
21	MP0006292_abnormal_olfactory_placode	1.97182116
22	MP0002909_abnormal_adrenal_gland	1.93055921
23	MP0003806_abnormal_nucleotide_metabolis	1.84926104
24	MP0005645_abnormal_hypothalamus_physiol	1.71744463
25	MP0004147_increased_porphyrin_level	1.65356019
26	MP0009785_altered_susceptibility_to	1.65037635
27	MP0002272_abnormal_nervous_system	1.63981161
28	MP0008004_abnormal_stomach_pH	1.63246049
29	MP0000470_abnormal_stomach_morphology	1.57725916
30	MP0005365_abnormal_bile_salt	1.49905789
31	MP0009333_abnormal_splenocyte_physiolog	1.48536314
32	MP0001873_stomach_inflammation	1.48208502
33	MP0001666_abnormal_nutrient_absorption	1.47658708
34	MP0005167_abnormal_blood-brain_barrier	1.47240400
35	MP0009764_decreased_sensitivity_to	1.44880600
36	MP0005075_abnormal_melanosome_morpholog	1.42026720
37	MP0005671_abnormal_response_to	1.41853070
38	MP0001944_abnormal_pancreas_morphology	1.41704147
39	MP0002653_abnormal_ependyma_morphology	1.41210009
40	MP0002693_abnormal_pancreas_physiology	1.40225719
41	MP0005084_abnormal_gallbladder_morpholo	1.38687481
42	MP0000015_abnormal_ear_pigmentation	1.33450508
43	MP0003866_abnormal_defecation	1.33294036
44	MP0008775_abnormal_heart_ventricle	1.32060665
45	MP0003786_premature_aging	1.32059642
46	MP0006054_spinal_hemorrhage	1.27444693
47	MP0002163_abnormal_gland_morphology	1.25210558
48	MP0005410_abnormal_fertilization	1.24513038
49	MP0001664_abnormal_digestion	1.23541399
50	MP0005535_abnormal_body_temperature	1.19955523
51	MP0002837_dystrophic_cardiac_calcinosis	1.19428898
52	MP0005083_abnormal_biliary_tract	1.18013151
53	MP0005551_abnormal_eye_electrophysiolog	1.16748175
54	MP0009745_abnormal_behavioral_response	1.14981259
55	MP0001986_abnormal_taste_sensitivity	1.07450205
56	MP0004381_abnormal_hair_follicle	1.07118921
57	MP0002229_neurodegeneration	1.06588357
58	MP0008872_abnormal_physiological_respon	1.06468802
59	MP0003959_abnormal_lean_body	1.04566414
60	MP0005647_abnormal_sex_gland	1.01031829
61	MP0002928_abnormal_bile_duct	0.99809475
62	MP0001835_abnormal_antigen_presentation	0.98050537
63	MP0005253_abnormal_eye_physiology	0.97158193
64	MP0001188_hyperpigmentation	0.96329593
65	MP0005332_abnormal_amino_acid	0.95275999
66	MP0001486_abnormal_startle_reflex	0.93881509
67	MP0003137_abnormal_impulse_conducting	0.90789049
68	MP0003633_abnormal_nervous_system	0.89573893
69	MP0002078_abnormal_glucose_homeostasis	0.85791501
70	MP0001440_abnormal_grooming_behavior	0.84697097
71	MP0000343_altered_response_to	0.84618161
72	MP0003953_abnormal_hormone_level	0.82288384
73	MP0001845_abnormal_inflammatory_respons	0.81047610
74	MP0002148_abnormal_hypersensitivity_rea	0.80442884
75	MP0003119_abnormal_digestive_system	0.80335465
76	MP0000462_abnormal_digestive_system	0.80219965
77	MP0000749_muscle_degeneration	0.80164355
78	MP0004084_abnormal_cardiac_muscle	0.78677328
79	MP0010155_abnormal_intestine_physiology	0.78309331
80	MP0005025_abnormal_response_to	0.76255712
81	MP0002572_abnormal_emotion/affect_behav	0.74324664
82	MP0002638_abnormal_pupillary_reflex	0.72434044
83	MP0002210_abnormal_sex_determination	0.72430225
84	MP0005187_abnormal_penis_morphology	0.72107483
85	MP0001501_abnormal_sleep_pattern	0.71918877
86	MP0003698_abnormal_male_reproductive	0.70145347
87	MP0001661_extended_life_span	0.70051338
88	MP0003950_abnormal_plasma_membrane	0.69979692
89	MP0009643_abnormal_urine_homeostasis	0.69129399
90	MP0000427_abnormal_hair_cycle	0.68632102
91	MP0009765_abnormal_xenobiotic_induced	0.66849291
92	MP0000465_gastrointestinal_hemorrhage	0.66155666
93	MP0010329_abnormal_lipoprotein_level	0.64330927
94	MP0002166_altered_tumor_susceptibility	0.64271887
95	MP0000358_abnormal_cell_content/	0.64198278
96	MP0001984_abnormal_olfaction	0.63548448
97	MP0005448_abnormal_energy_balance	0.63382853
98	MP0009697_abnormal_copulation	0.62545796
99	MP0004130_abnormal_muscle_cell	0.60372894
100	MP0001145_abnormal_male_reproductive	0.59953139

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Aplasia/Hypoplasia of the fovea (HP:0008060)	8.64508227
2	Hypoplasia of the fovea (HP:0007750)	8.64508227
3	Anterior segment dysgenesis (HP:0007700)	7.93217173
4	Abnormality of the fovea (HP:0000493)	6.89834595
5	Alveolar cell carcinoma (HP:0006519)	5.88153911
6	Aplasia/Hypoplasia of the macula (HP:0008059)	5.70373956
7	Germ cell neoplasia (HP:0100728)	5.42674791
8	Neoplasm of the tracheobronchial system (HP:0100552)	5.32546479
9	Aplasia/Hypoplasia affecting the retina (HP:0008061)	5.30339146
10	Genetic anticipation (HP:0003743)	4.92912720
11	Hyperinsulinemic hypoglycemia (HP:0000825)	4.30601141
12	Hypoglycemic seizures (HP:0002173)	3.85705000
13	Abnormal pancreas size (HP:0012094)	3.83727997
14	Abnormality of aromatic amino acid family metabolism (HP:0004338)	3.63810559
15	Breast carcinoma (HP:0003002)	3.49884578
16	Scanning speech (HP:0002168)	3.35477409
17	Autoimmune hemolytic anemia (HP:0001890)	3.31636927
18	Stomatitis (HP:0010280)	3.16308181
19	Methylmalonic acidemia (HP:0002912)	3.08908156
20	Postural instability (HP:0002172)	3.04899770
21	Abnormal drinking behavior (HP:0030082)	3.04681379
22	Polydipsia (HP:0001959)	3.04681379
23	Abnormality of homocysteine metabolism (HP:0010919)	2.99422626
24	Homocystinuria (HP:0002156)	2.99422626
25	Abnormality of B cell number (HP:0010975)	2.99389439
26	Hypoglycemic coma (HP:0001325)	2.97464351
27	Polyuria (HP:0000103)	2.94730039
28	Elevated circulating parathyroid hormone (PTH) level (HP:0003165)	2.83647175
29	Dysmetric saccades (HP:0000641)	2.80777431
30	Progressive cerebellar ataxia (HP:0002073)	2.76693300
31	Abnormality of the anterior chamber (HP:0000593)	2.76414864
32	Abnormality of the line of Schwalbe (HP:0008048)	2.73344140
33	Posterior embryotoxon (HP:0000627)	2.71012851
34	Albinism (HP:0001022)	2.65716302
35	Rectal fistula (HP:0100590)	2.60462544
36	Rectovaginal fistula (HP:0000143)	2.60462544
37	Agitation (HP:0000713)	2.57315992
38	Symptomatic seizures (HP:0011145)	2.53679247
39	Abnormality of the vitamin B12 metabolism (HP:0004341)	2.53587510
40	Febrile seizures (HP:0002373)	2.52881807
41	Aplasia/Hypoplasia affecting the fundus (HP:0008057)	2.48317189
42	Severe muscular hypotonia (HP:0006829)	2.47733302
43	Abnormality of vitamin B metabolism (HP:0004340)	2.44557832
44	Late onset (HP:0003584)	2.43928616
45	Limb hypertonia (HP:0002509)	2.42722871
46	Abnormality of long-chain fatty-acid metabolism (HP:0010964)	2.41704667
47	Increased hepatocellular lipid droplets (HP:0006565)	2.39569699
48	Hypothermia (HP:0002045)	2.38277110
49	Abnormal urine output (HP:0012590)	2.37929549
50	Gaze-evoked nystagmus (HP:0000640)	2.36565361
51	Abnormality of the parathyroid morphology (HP:0011766)	2.32978946
52	Lipid accumulation in hepatocytes (HP:0006561)	2.31555691
53	Thyroiditis (HP:0100646)	2.27537771
54	Increased circulating renin level (HP:0000848)	2.26787256
55	Abnormality of calcium-phosphate metabolism (HP:0100530)	2.24508688
56	Abnormality of methionine metabolism (HP:0010901)	2.23420619
57	Medial flaring of the eyebrow (HP:0010747)	2.23288733
58	Congenital stationary night blindness (HP:0007642)	2.17619310
59	Methylmalonic aciduria (HP:0012120)	2.16479925
60	Intestinal fistula (HP:0100819)	2.14089515
61	Abnormal rod and cone electroretinograms (HP:0008323)	2.11770214
62	Insulin-resistant diabetes mellitus (HP:0000831)	2.09963397
63	Vaginal fistula (HP:0004320)	2.04564967
64	Abnormality of renal excretion (HP:0011036)	2.04529924
65	B lymphocytopenia (HP:0010976)	2.03166220
66	Increased IgM level (HP:0003496)	2.02922986
67	Hyperglycemia (HP:0003074)	2.01550717
68	Congenital, generalized hypertrichosis (HP:0004540)	2.00751938
69	Azoospermia (HP:0000027)	1.97993591
70	Neoplasm of the lung (HP:0100526)	1.97707808
71	Molar tooth sign on MRI (HP:0002419)	1.96782954
72	Abnormality of midbrain morphology (HP:0002418)	1.96782954
73	Abnormality of saccadic eye movements (HP:0000570)	1.96028495
74	Urinary bladder sphincter dysfunction (HP:0002839)	1.94879477
75	Absent rod-and cone-mediated responses on ERG (HP:0007688)	1.94481961
76	Abnormality of vitamin metabolism (HP:0100508)	1.92035784
77	Abnormality of lateral ventricle (HP:0030047)	1.88811970
78	Elevated erythrocyte sedimentation rate (HP:0003565)	1.86176394
79	Tubular atrophy (HP:0000092)	1.84892307
80	Abnormality of aspartate family amino acid metabolism (HP:0010899)	1.84832342
81	Esotropia (HP:0000565)	1.84457647
82	Tachypnea (HP:0002789)	1.84243220
83	Brushfield spots (HP:0001088)	1.83779599
84	Steatorrhea (HP:0002570)	1.82342567
85	Severe combined immunodeficiency (HP:0004430)	1.79462815
86	Neoplasm of the respiratory system (HP:0100606)	1.77818203
87	Hypoproteinemia (HP:0003075)	1.76550936
88	Ovarian neoplasm (HP:0100615)	1.76493498
89	Restlessness (HP:0000711)	1.74203573
90	Slow saccadic eye movements (HP:0000514)	1.73812122
91	Tubulointerstitial fibrosis (HP:0005576)	1.72329835
92	Eosinophilia (HP:0001880)	1.71589707
93	Hyperventilation (HP:0002883)	1.67797996
94	Tongue fasciculations (HP:0001308)	1.67110029
95	Abnormality of eosinophils (HP:0001879)	1.65634019
96	Disproportionate short-trunk short stature (HP:0003521)	1.63521948
97	Parkinsonism with favorable response to dopaminergic medication (HP:0002548)	1.63293430
98	Dysdiadochokinesis (HP:0002075)	1.63238952
99	3-Methylglutaconic aciduria (HP:0003535)	1.62881061
100	Increased CSF lactate (HP:0002490)	1.62364886

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	PASK	2.95803231
2	TESK2	2.74829260
3	FRK	2.35745062
4	CASK	2.28087012
5	EIF2AK3	2.19310344
6	STK10	2.03339029
7	PINK1	12.6329621
8	NUAK1	1.88537624
9	PIK3CA	1.83360599
10	EIF2AK1	1.75286909
11	TRIM28	1.65803311
12	KSR1	1.64326528
13	MST4	1.63278520
14	MARK3	1.51219552
15	ADRBK2	1.48923323
16	GRK1	1.35571852
17	TAOK3	1.31369581
18	AKT3	1.28647455
19	PTK2B	1.23924678
20	DYRK3	1.22802859
21	LRRK2	1.21856279
22	MAPKAPK3	1.14046452
23	ZAK	1.11407367
24	TSSK6	1.10828572
25	TXK	1.09700388
26	STK3	1.09216920
27	SIK3	1.07362573
28	RPS6KB2	1.02460194
29	IKBKE	1.01494077
30	STK39	0.98074608
31	BMPR1B	0.87068461
32	SGK2	0.86450461
33	OXSR1	0.85844331
34	FER	0.83063979
35	GRK7	0.79181476
36	TYK2	0.78537778
37	ITK	0.76453710
38	WNK3	0.74088317
39	TBK1	0.72933655
40	PRKCI	0.66550668
41	STK38L	0.65821195
42	SGK494	0.64534571
43	SGK223	0.64534571
44	JAK3	0.63959389
45	TEC	0.62816130
46	CLK1	0.61497494
47	BCR	0.56914709
48	CDC42BPA	0.53384379
49	STK4	0.51420274
50	STK11	0.51007639
51	ADRBK1	0.50518325
52	PRKCQ	0.49065073
53	VRK1	0.48111437
54	MINK1	0.47615040
55	KDR	0.46342505
56	PAK3	0.44867248
57	NLK	0.43429341
58	PLK3	0.42073567
59	ERBB3	0.41641167
60	NEK1	0.41408606
61	PRKCG	0.40623573
62	CDK8	0.39008772
63	HIPK2	0.37465002
64	SGK3	0.37378180
65	CSNK1A1	0.37020789
66	TESK1	0.36161286
67	IKBKB	0.35455998
68	NEK6	0.35241796
69	PIM1	0.35212326
70	NME1	0.34005672
71	PHKG2	0.33111930
72	PHKG1	0.33111930
73	ROCK1	0.32416132
74	TLK1	0.32189662
75	MAP3K8	0.29974254
76	FGFR1	0.29590958
77	PRKCE	0.29137445
78	STK24	0.28962004
79	LCK	0.28483629
80	ABL1	0.26380236
81	MAPKAPK5	0.26204765
82	ROCK2	0.25582011
83	BLK	0.25487777
84	KIT	0.25104081
85	CAMK2D	0.24789755
86	FES	0.24657247
87	RPS6KB1	0.24194333
88	BTK	0.19504250
89	TAOK1	0.19387920
90	CHUK	0.19154247
91	CAMK2A	0.15159374
92	LIMK1	0.14739329
93	TRPM7	0.14173641
94	JAK1	0.14060213
95	MYLK	0.13780311
96	NTRK3	0.13680484
97	ERBB2	0.13680039
98	MAP3K12	0.12920396
99	CDK12	0.12136279
100	PRKACA	0.11741627

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Maturity onset diabetes of the young_Homo sapiens_hsa04950	6.37648085
2	Protein export_Homo sapiens_hsa03060	3.82731523
3	Proteasome_Homo sapiens_hsa03050	3.24544598
4	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	2.34157950
5	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	2.28781562
6	Parkinsons disease_Homo sapiens_hsa05012	2.21547993
7	Peroxisome_Homo sapiens_hsa04146	2.09475187
8	RNA polymerase_Homo sapiens_hsa03020	2.07849666
9	Phototransduction_Homo sapiens_hsa04744	2.01235561
10	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.93955509
11	Oxidative phosphorylation_Homo sapiens_hsa00190	1.91715489
12	Butanoate metabolism_Homo sapiens_hsa00650	1.79225459
13	One carbon pool by folate_Homo sapiens_hsa00670	1.64842307
14	Gastric acid secretion_Homo sapiens_hsa04971	1.64157401
15	Non-homologous end-joining_Homo sapiens_hsa03450	1.62811712
16	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.60195828
17	Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524	1.58578426
18	Sulfur metabolism_Homo sapiens_hsa00920	1.52557658
19	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	1.47289631
20	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.46593027
21	Basal transcription factors_Homo sapiens_hsa03022	1.43579781
22	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.41729519
23	Nitrogen metabolism_Homo sapiens_hsa00910	1.40825681
24	Linoleic acid metabolism_Homo sapiens_hsa00591	1.37034598
25	Primary immunodeficiency_Homo sapiens_hsa05340	1.27546960
26	Glycerolipid metabolism_Homo sapiens_hsa00561	1.26603886
27	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	1.20437717
28	Folate biosynthesis_Homo sapiens_hsa00790	1.17626202
29	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.17160504
30	Selenocompound metabolism_Homo sapiens_hsa00450	1.10249104
31	Alzheimers disease_Homo sapiens_hsa05010	1.08596749
32	Regulation of autophagy_Homo sapiens_hsa04140	1.08208009
33	Measles_Homo sapiens_hsa05162	1.06764181
34	Ether lipid metabolism_Homo sapiens_hsa00565	1.06687810
35	Fatty acid biosynthesis_Homo sapiens_hsa00061	1.05491254
36	Insulin secretion_Homo sapiens_hsa04911	1.02976595
37	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	1.01663729
38	Fatty acid degradation_Homo sapiens_hsa00071	0.97638988
39	beta-Alanine metabolism_Homo sapiens_hsa00410	0.96208107
40	Steroid biosynthesis_Homo sapiens_hsa00100	0.94287814
41	Hematopoietic cell lineage_Homo sapiens_hsa04640	0.89421662
42	Huntingtons disease_Homo sapiens_hsa05016	0.87732052
43	Type I diabetes mellitus_Homo sapiens_hsa04940	0.84583491
44	RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622	0.84308484
45	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	0.81408173
46	RNA degradation_Homo sapiens_hsa03018	0.80036124
47	Tryptophan metabolism_Homo sapiens_hsa00380	0.79955411
48	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.79288942
49	Vibrio cholerae infection_Homo sapiens_hsa05110	0.79113144
50	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.74810847
51	Purine metabolism_Homo sapiens_hsa00230	0.74564631
52	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.74146309
53	Salivary secretion_Homo sapiens_hsa04970	0.71983347
54	Arginine and proline metabolism_Homo sapiens_hsa00330	0.71948682
55	ABC transporters_Homo sapiens_hsa02010	0.71214576
56	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	0.70277597
57	Chemical carcinogenesis_Homo sapiens_hsa05204	0.69721839
58	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.68049485
59	Olfactory transduction_Homo sapiens_hsa04740	0.67622304
60	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.67567854
61	Thyroid hormone synthesis_Homo sapiens_hsa04918	0.66662538
62	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.66514430
63	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.66236982
64	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.66107172
65	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.63340552
66	Renin secretion_Homo sapiens_hsa04924	0.63241603
67	Pancreatic secretion_Homo sapiens_hsa04972	0.62452245
68	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.62359693
69	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.61395006
70	Propanoate metabolism_Homo sapiens_hsa00640	0.61248077
71	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.60100423
72	Autoimmune thyroid disease_Homo sapiens_hsa05320	0.59011991
73	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.57907114
74	Histidine metabolism_Homo sapiens_hsa00340	0.57345529
75	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.56891873
76	Allograft rejection_Homo sapiens_hsa05330	0.55455584
77	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.55326431
78	Shigellosis_Homo sapiens_hsa05131	0.55150071
79	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.54743926
80	Fanconi anemia pathway_Homo sapiens_hsa03460	0.54408500
81	Retinol metabolism_Homo sapiens_hsa00830	0.53709748
82	Metabolic pathways_Homo sapiens_hsa01100	0.49578007
83	Morphine addiction_Homo sapiens_hsa05032	0.48300341
84	Graft-versus-host disease_Homo sapiens_hsa05332	0.47290973
85	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	0.46485574
86	Pyrimidine metabolism_Homo sapiens_hsa00240	0.46321580
87	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.45986352
88	Amphetamine addiction_Homo sapiens_hsa05031	0.43882493
89	Cardiac muscle contraction_Homo sapiens_hsa04260	0.43772083
90	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.42001514
91	Fatty acid metabolism_Homo sapiens_hsa01212	0.41847623
92	T cell receptor signaling pathway_Homo sapiens_hsa04660	0.41306468
93	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.38859804
94	Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141	0.36474973
95	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.36294718
96	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.35519767
97	Mineral absorption_Homo sapiens_hsa04978	0.34813038
98	Type II diabetes mellitus_Homo sapiens_hsa04930	0.34428061
99	Bile secretion_Homo sapiens_hsa04976	0.32535616
100	GABAergic synapse_Homo sapiens_hsa04727	0.31941370

ZBTB8OSP1

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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