ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	positive regulation of synaptic transmission, dopaminergic (GO:0032226)	9.70743082
2	positive regulation of catecholamine secretion (GO:0033605)	7.43150619
3	regulation of phosphoprotein phosphatase activity (GO:0043666)	6.86982082
4	coenzyme catabolic process (GO:0009109)	6.49747470
5	motile cilium assembly (GO:0044458)	5.99218039
6	regulation of oxidative stress-induced neuron death (GO:1903203)	5.86147587
7	tongue development (GO:0043586)	5.75823948
8	activation of protein kinase B activity (GO:0032148)	5.58136691
9	negative regulation of cardiac muscle cell apoptotic process (GO:0010667)	5.39104930
10	regulation of autophagic vacuole assembly (GO:2000785)	5.36564504
11	epithelial cilium movement (GO:0003351)	5.23760693
12	acrosome reaction (GO:0007340)	5.02198458
13	axonemal dynein complex assembly (GO:0070286)	4.99987402
14	relaxation of smooth muscle (GO:0044557)	4.91804336
15	regulation of oxidative phosphorylation (GO:0002082)	4.74047180
16	potassium ion export (GO:0071435)	4.62426626
17	multicellular organism reproduction (GO:0032504)	4.62055555
18	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	4.57980796
19	oligosaccharide biosynthetic process (GO:0009312)	4.53970253
20	spermatid development (GO:0007286)	4.51021507
21	regulation of vacuole organization (GO:0044088)	4.44560445
22	negative regulation of hydrogen peroxide-induced cell death (GO:1903206)	4.38995301
23	cGMP-mediated signaling (GO:0019934)	4.37028789
24	ADP metabolic process (GO:0046031)	4.34922628
25	regulation of dopamine secretion (GO:0014059)	4.34359746
26	sperm motility (GO:0030317)	4.34119616
27	regulation of hydrogen peroxide-induced cell death (GO:1903205)	4.28408052
28	regulation of cellular respiration (GO:0043457)	4.17831158
29	cilium movement (GO:0003341)	4.09161966
30	male meiosis (GO:0007140)	4.06174284
31	negative regulation of striated muscle cell apoptotic process (GO:0010664)	4.00716097
32	binding of sperm to zona pellucida (GO:0007339)	4.00711254
33	negative regulation of response to reactive oxygen species (GO:1901032)	3.97050870
34	TOR signaling (GO:0031929)	3.84942440
35	organic cation transport (GO:0015695)	3.83152150
36	membrane repolarization during action potential (GO:0086011)	3.77074124
37	mitochondrion degradation (GO:0000422)	3.64709977
38	androgen biosynthetic process (GO:0006702)	3.57430991
39	cilium or flagellum-dependent cell motility (GO:0001539)	3.51937523
40	diacylglycerol metabolic process (GO:0046339)	3.51852907
41	regulation of synaptic transmission, dopaminergic (GO:0032225)	3.48685924
42	positive regulation of myoblast differentiation (GO:0045663)	3.42973246
43	single fertilization (GO:0007338)	3.40231596
44	regulation of phospholipase A2 activity (GO:0032429)	3.36569652
45	central nervous system myelination (GO:0022010)	3.36465828
46	axon ensheathment in central nervous system (GO:0032291)	3.36465828
47	ventricular system development (GO:0021591)	3.36276844
48	sperm-egg recognition (GO:0035036)	3.33422032
49	membrane repolarization (GO:0086009)	3.30265589
50	glycogen metabolic process (GO:0005977)	3.27998202
51	cell-cell recognition (GO:0009988)	3.27415704
52	response to muscle activity (GO:0014850)	3.26146534
53	cellular glucan metabolic process (GO:0006073)	3.23992054
54	glucan metabolic process (GO:0044042)	3.23992054
55	DNA double-strand break processing (GO:0000729)	3.22659620
56	positive regulation of amine transport (GO:0051954)	3.21531395
57	cellular response to zinc ion (GO:0071294)	3.21525898
58	mRNA cleavage (GO:0006379)	3.20252848
59	positive regulation of protein kinase C signaling (GO:0090037)	3.18112321
60	glutamine family amino acid catabolic process (GO:0009065)	3.14758914
61	detection of chemical stimulus involved in sensory perception of smell (GO:0050911)	3.13187908
62	cofactor catabolic process (GO:0051187)	3.11582326
63	negative regulation of JNK cascade (GO:0046329)	3.10632148
64	axon extension involved in axon guidance (GO:0048846)	3.10372089
65	neuron projection extension involved in neuron projection guidance (GO:1902284)	3.10372089
66	myoblast migration (GO:0051451)	3.10170736
67	peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	3.07584031
68	behavioral response to nicotine (GO:0035095)	3.05483042
69	response to acidic pH (GO:0010447)	3.03732070
70	AMP metabolic process (GO:0046033)	3.03080956
71	positive regulation of growth hormone secretion (GO:0060124)	3.00184823
72	cardiovascular system development (GO:0072358)	2.98622239
73	reproduction (GO:0000003)	2.95334928
74	regulation of ARF GTPase activity (GO:0032312)	2.93882295
75	protein polymerization (GO:0051258)	2.88096171
76	potassium ion import (GO:0010107)	2.87104671
77	regulation of protein kinase C signaling (GO:0090036)	2.85806802
78	heterochromatin organization (GO:0070828)	2.85417034
79	peroxisome fission (GO:0016559)	2.85228899
80	negative regulation of macroautophagy (GO:0016242)	2.79062122
81	negative regulation of stem cell proliferation (GO:2000647)	2.78650771
82	presynaptic membrane organization (GO:0097090)	2.78076262
83	ribosomal small subunit biogenesis (GO:0042274)	2.77485108
84	cell-cell junction maintenance (GO:0045217)	2.76278536
85	serine family amino acid catabolic process (GO:0009071)	2.75504177
86	protein-DNA complex disassembly (GO:0032986)	2.75286625
87	nucleosome disassembly (GO:0006337)	2.75286625
88	regulation of synaptic vesicle transport (GO:1902803)	2.72460202
89	regulation of cardiac muscle cell apoptotic process (GO:0010665)	2.72147376
90	cellular response to toxic substance (GO:0097237)	2.71248356
91	protein localization to cell surface (GO:0034394)	2.71050698
92	paraxial mesoderm development (GO:0048339)	2.68438150
93	amino-acid betaine transport (GO:0015838)	2.66829043
94	carnitine transport (GO:0015879)	2.66829043
95	polyamine biosynthetic process (GO:0006596)	2.66810764
96	histone H3-K36 demethylation (GO:0070544)	2.65344990
97	negative regulation of stress-activated protein kinase signaling cascade (GO:0070303)	2.64987215
98	negative regulation of stress-activated MAPK cascade (GO:0032873)	2.64987215
99	barbed-end actin filament capping (GO:0051016)	2.64234819
100	negative regulation of smooth muscle cell proliferation (GO:0048662)	2.62041567

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	8.97383839
2	BP1_19119308_ChIP-ChIP_Hs578T_Human	6.22542446
3	IGF1R_20145208_ChIP-Seq_DFB_Human	4.73200866
4	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	3.89668598
5	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	3.76685529
6	EZH2_22144423_ChIP-Seq_EOC_Human	3.69464350
7	ESR1_20079471_ChIP-ChIP_T-47D_Human	3.20440334
8	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	3.15423558
9	GBX2_23144817_ChIP-Seq_PC3_Human	2.76074858
10	VDR_22108803_ChIP-Seq_LS180_Human	2.50593447
11	AR_21572438_ChIP-Seq_LNCaP_Human	2.38971831
12	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	2.18016691
13	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.16617381
14	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.07803981
15	ZNF274_21170338_ChIP-Seq_K562_Hela	1.98513690
16	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.95816407
17	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.95816407
18	FUS_26573619_Chip-Seq_HEK293_Human	1.72991767
19	VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human	1.72019067
20	WDR5_24793694_ChIP-Seq_LNCAP_Human	1.70063156
21	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.67094171
22	ER_23166858_ChIP-Seq_MCF-7_Human	1.62814038
23	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.61519290
24	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.60809290
25	RXR_22108803_ChIP-Seq_LS180_Human	1.50624117
26	IRF1_19129219_ChIP-ChIP_H3396_Human	1.50127364
27	P300_19829295_ChIP-Seq_ESCs_Human	1.49471868
28	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.43852429
29	CBP_20019798_ChIP-Seq_JUKART_Human	1.41491341
30	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.41491341
31	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.40131503
32	NANOG_20526341_ChIP-Seq_ESCs_Human	1.38619545
33	ARNT_22903824_ChIP-Seq_MCF-7_Human	1.37828876
34	AHR_22903824_ChIP-Seq_MCF-7_Human	1.36837717
35	JARID2_20064375_ChIP-Seq_MESCs_Mouse	1.33230809
36	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.32680123
37	EZH2_18974828_ChIP-Seq_MESCs_Mouse	1.32084049
38	RNF2_18974828_ChIP-Seq_MESCs_Mouse	1.32084049
39	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.30904659
40	SMAD4_21799915_ChIP-Seq_A2780_Human	1.25778549
41	ERA_21632823_ChIP-Seq_H3396_Human	1.25731393
42	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	1.25114602
43	SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	1.23814826
44	SUZ12_18974828_ChIP-Seq_MESCs_Mouse	1.22958744
45	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.22298942
46	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	1.21769759
47	CTCF_27219007_Chip-Seq_Bcells_Human	1.20158728
48	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.18638385
49	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.18344995
50	RUNX2_22187159_ChIP-Seq_PCA_Human	1.17271884
51	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.15837625
52	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	1.15354681
53	BCAT_22108803_ChIP-Seq_LS180_Human	1.13760781
54	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	1.13223715
55	RCOR2_21632747_ChIP-Seq_MESCs_Mouse	1.12801260
56	MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human	1.12596595
57	ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.11346216
58	VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human	1.10893633
59	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.10214082
60	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.08499878
61	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.08022024
62	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	1.07810043
63	SOX2_19030024_ChIP-ChIP_MESCs_Mouse	1.06567394
64	RAC3_21632823_ChIP-Seq_H3396_Human	1.04625720
65	OCT1_27270436_Chip-Seq_PROSTATE_Human	1.03516829
66	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.02898649
67	SUZ12_18692474_ChIP-Seq_MEFs_Mouse	1.01643796
68	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.00744718
69	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.00226542
70	ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse	0.99127953
71	OCT4_20526341_ChIP-Seq_ESCs_Human	0.97975484
72	AR_25329375_ChIP-Seq_VCAP_Human	0.97947825
73	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	0.97667528
74	TBL1_22424771_ChIP-Seq_293T_Human	0.97227086
75	SMAD4_21741376_ChIP-Seq_EPCs_Human	0.97164451
76	RNF2_27304074_Chip-Seq_ESCs_Mouse	0.96673670
77	ERG_21242973_ChIP-ChIP_JURKAT_Human	0.96196071
78	IKZF1_21737484_ChIP-ChIP_HCT116_Human	0.93388228
79	SUZ12_27294783_Chip-Seq_ESCs_Mouse	0.93245022
80	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	0.92673889
81	PHC1_16625203_ChIP-ChIP_MESCs_Mouse	0.92448861
82	E2F1_17053090_ChIP-ChIP_MCF-7_Human	0.91278280
83	MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human	0.90869082
84	MYC_19829295_ChIP-Seq_ESCs_Human	0.90545045
85	REST_18959480_ChIP-ChIP_MESCs_Mouse	0.90197725
86	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	0.89641179
87	MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse	0.89038173
88	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	0.88330828
89	SUZ12_20075857_ChIP-Seq_MESCs_Mouse	0.88118814
90	P53_22127205_ChIP-Seq_FIBROBLAST_Human	0.87987644
91	SMAD3_21741376_ChIP-Seq_EPCs_Human	0.87344292
92	TP53_18474530_ChIP-ChIP_U2OS_Human	0.87012572
93	PRDM14_20953172_ChIP-Seq_ESCs_Human	0.86776000
94	SOX2_21211035_ChIP-Seq_LN229_Gbm	0.86686425
95	GATA1_26923725_Chip-Seq_HPCs_Mouse	0.86248243
96	CTCF_20526341_ChIP-Seq_ESCs_Human	0.86107725
97	STAT1_17558387_ChIP-Seq_HELA_Human	0.85818512
98	GATA3_21878914_ChIP-Seq_MCF-7_Human	0.85746337
99	EBNA1_20929547_Chip-Seq_RAJI-cells_Human	0.85227015
100	CBP_21632823_ChIP-Seq_H3396_Human	0.82684693

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003315_abnormal_perineum_morphology	4.95998637
2	MP0008004_abnormal_stomach_pH	4.57815970
3	MP0005410_abnormal_fertilization	4.10253427
4	MP0003136_yellow_coat_color	3.65723679
5	MP0002160_abnormal_reproductive_system	3.22773563
6	MP0001529_abnormal_vocalization	2.96771193
7	MP0005499_abnormal_olfactory_system	2.92129588
8	MP0005394_taste/olfaction_phenotype	2.92129588
9	MP0002132_abnormal_respiratory_system	2.91065362
10	MP0001984_abnormal_olfaction	2.78779121
11	MP0002653_abnormal_ependyma_morphology	2.67246118
12	MP0001188_hyperpigmentation	2.31514252
13	MP0002102_abnormal_ear_morphology	2.25927517
14	MP0010368_abnormal_lymphatic_system	2.23033326
15	MP0002822_catalepsy	1.99953738
16	MP0008789_abnormal_olfactory_epithelium	1.99627934
17	MP0000749_muscle_degeneration	1.99431816
18	MP0006072_abnormal_retinal_apoptosis	1.94031029
19	MP0002837_dystrophic_cardiac_calcinosis	1.89967114
20	MP0003787_abnormal_imprinting	1.88842978
21	MP0003806_abnormal_nucleotide_metabolis	1.77377295
22	MP0004084_abnormal_cardiac_muscle	1.76726755
23	MP0005187_abnormal_penis_morphology	1.74105253
24	MP0004272_abnormal_basement_membrane	1.72203795
25	MP0003698_abnormal_male_reproductive	1.64615913
26	MP0005646_abnormal_pituitary_gland	1.63562392
27	MP0010386_abnormal_urinary_bladder	1.57884002
28	MP0002233_abnormal_nose_morphology	1.55079003
29	MP0005389_reproductive_system_phenotype	1.51966674
30	MP0003122_maternal_imprinting	1.51780134
31	MP0001905_abnormal_dopamine_level	1.50766386
32	MP0001664_abnormal_digestion	1.46834794
33	MP0000049_abnormal_middle_ear	1.45123437
34	MP0003385_abnormal_body_wall	1.42411532
35	MP0005253_abnormal_eye_physiology	1.41958445
36	MP0001270_distended_abdomen	1.40582079
37	MP0001929_abnormal_gametogenesis	1.37771585
38	MP0001485_abnormal_pinna_reflex	1.31981977
39	MP0002127_abnormal_cardiovascular_syste	1.30168187
40	MP0009697_abnormal_copulation	1.29753657
41	MP0001849_ear_inflammation	1.27247879
42	MP0004859_abnormal_synaptic_plasticity	1.26352195
43	MP0002184_abnormal_innervation	1.21896233
44	MP0002638_abnormal_pupillary_reflex	1.21594745
45	MP0009250_abnormal_appendicular_skeleto	1.19093470
46	MP0005248_abnormal_Harderian_gland	1.18388809
47	MP0005360_urolithiasis	1.18046818
48	MP0006276_abnormal_autonomic_nervous	1.11097459
49	MP0003123_paternal_imprinting	1.09963271
50	MP0000537_abnormal_urethra_morphology	1.09904423
51	MP0001502_abnormal_circadian_rhythm	1.07618525
52	MP0004085_abnormal_heartbeat	1.06010274
53	MP0001486_abnormal_startle_reflex	1.05433019
54	MP0002277_abnormal_respiratory_mucosa	1.01949571
55	MP0002752_abnormal_somatic_nervous	1.01740807
56	MP0003635_abnormal_synaptic_transmissio	1.01518087
57	MP0001919_abnormal_reproductive_system	1.01076779
58	MP0005620_abnormal_muscle_contractility	1.00326384
59	MP0005551_abnormal_eye_electrophysiolog	0.98765394
60	MP0002272_abnormal_nervous_system	0.98684031
61	MP0001501_abnormal_sleep_pattern	0.96668078
62	MP0002210_abnormal_sex_determination	0.95722617
63	MP0006036_abnormal_mitochondrial_physio	0.95044774
64	MP0002249_abnormal_larynx_morphology	0.94827283
65	MP0002090_abnormal_vision	0.94495517
66	MP0004036_abnormal_muscle_relaxation	0.94226336
67	MP0005058_abnormal_lysosome_morphology	0.93620333
68	MP0003718_maternal_effect	0.91368175
69	MP0000343_altered_response_to	0.90700149
70	MP0001145_abnormal_male_reproductive	0.87575570
71	MP0000230_abnormal_systemic_arterial	0.87030049
72	MP0003938_abnormal_ear_development	0.86864735
73	MP0005595_abnormal_vascular_smooth	0.86747180
74	MP0003755_abnormal_palate_morphology	0.85880183
75	MP0003879_abnormal_hair_cell	0.84656145
76	MP0002108_abnormal_muscle_morphology	0.83483992
77	MP0004215_abnormal_myocardial_fiber	0.83325299
78	MP0002161_abnormal_fertility/fecundity	0.82446867
79	MP0000538_abnormal_urinary_bladder	0.81774407
80	MP0003880_abnormal_central_pattern	0.80298598
81	MP0004484_altered_response_of	0.79290275
82	MP0004811_abnormal_neuron_physiology	0.78950841
83	MP0000653_abnormal_sex_gland	0.78469065
84	MP0000026_abnormal_inner_ear	0.76987011
85	MP0002572_abnormal_emotion/affect_behav	0.76745160
86	MP0005391_vision/eye_phenotype	0.76234757
87	MP0009046_muscle_twitch	0.76182661
88	MP0003121_genomic_imprinting	0.75420359
89	MP0005647_abnormal_sex_gland	0.75279014
90	MP0000631_abnormal_neuroendocrine_gland	0.75020790
91	MP0006292_abnormal_olfactory_placode	0.71535784
92	MP0002063_abnormal_learning/memory/cond	0.71463888
93	MP0004145_abnormal_muscle_electrophysio	0.71277074
94	MP0002557_abnormal_social/conspecific_i	0.71075113
95	MP0005409_darkened_coat_color	0.70979893
96	MP0004885_abnormal_endolymph	0.70109683
97	MP0003633_abnormal_nervous_system	0.69974575
98	MP0001963_abnormal_hearing_physiology	0.69551431
99	MP0002882_abnormal_neuron_morphology	0.68991717
100	MP0003890_abnormal_embryonic-extraembry	0.68714508

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Abnormality of the columella (HP:0009929)	5.34400717
2	Resting tremor (HP:0002322)	4.93998346
3	Reduced antithrombin III activity (HP:0001976)	4.75068875
4	Dynein arm defect of respiratory motile cilia (HP:0012255)	4.28526124
5	Absent/shortened dynein arms (HP:0200106)	4.28526124
6	Abnormal ciliary motility (HP:0012262)	4.22228163
7	Absent rod-and cone-mediated responses on ERG (HP:0007688)	4.02602429
8	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	4.02528672
9	Thoracic kyphosis (HP:0002942)	4.00117348
10	Abnormal respiratory motile cilium physiology (HP:0012261)	3.92876422
11	Pancreatic fibrosis (HP:0100732)	3.81790746
12	Abnormal sex determination (HP:0012244)	3.70653569
13	Sex reversal (HP:0012245)	3.70653569
14	Retinal dysplasia (HP:0007973)	3.60265044
15	Male pseudohermaphroditism (HP:0000037)	3.54277777
16	Abnormal respiratory epithelium morphology (HP:0012253)	3.54233678
17	Abnormal respiratory motile cilium morphology (HP:0005938)	3.54233678
18	Facial hemangioma (HP:0000329)	3.52999198
19	Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)	3.49563215
20	Ventricular fibrillation (HP:0001663)	3.46917211
21	Cerebellar dysplasia (HP:0007033)	3.46411887
22	Urinary urgency (HP:0000012)	3.39700621
23	Median cleft lip (HP:0000161)	3.37800233
24	Hypoplasia of the uterus (HP:0000013)	3.33919413
25	Type II lissencephaly (HP:0007260)	3.25686859
26	Gonadal dysgenesis (HP:0000133)	3.14515913
27	Abnormality of the frontal sinuses (HP:0002687)	3.11718195
28	High anterior hairline (HP:0009890)	3.10249349
29	Postural instability (HP:0002172)	3.03563194
30	Thoracolumbar scoliosis (HP:0002944)	3.00193511
31	Abnormality of the intrinsic pathway (HP:0010989)	2.98073395
32	Atonic seizures (HP:0010819)	2.91066279
33	Hyperventilation (HP:0002883)	2.84755150
34	Colitis (HP:0002583)	2.81578286
35	Aplasia/Hypoplasia involving the sinuses (HP:0009120)	2.64539264
36	Abnormal rod and cone electroretinograms (HP:0008323)	2.57964107
37	Hyporeflexia of lower limbs (HP:0002600)	2.57811416
38	Abnormality of the thoracic spine (HP:0100711)	2.56766248
39	Poor head control (HP:0002421)	2.54396054
40	Pachygyria (HP:0001302)	2.53066779
41	True hermaphroditism (HP:0010459)	2.52493254
42	Capillary hemangiomas (HP:0005306)	2.52320091
43	Occipital encephalocele (HP:0002085)	2.48147126
44	Infertility (HP:0000789)	2.47200436
45	Aortic aneurysm (HP:0004942)	2.44400881
46	Unsteady gait (HP:0002317)	2.43893442
47	Long foot (HP:0001833)	2.43124465
48	Aplasia/hypoplasia of the uterus (HP:0008684)	2.42342660
49	Self-mutilation (HP:0000742)	2.42291511
50	Cystic liver disease (HP:0006706)	2.41639262
51	Vitreoretinal degeneration (HP:0000655)	2.41402167
52	Exercise-induced muscle cramps (HP:0003710)	2.38646580
53	Sensory axonal neuropathy (HP:0003390)	2.36558557
54	Abnormality of the shoulder girdle musculature (HP:0001435)	2.36241376
55	Spinal rigidity (HP:0003306)	2.35317881
56	Pancreatic cysts (HP:0001737)	2.35033091
57	Abnormality of lateral ventricle (HP:0030047)	2.33568618
58	Bile duct proliferation (HP:0001408)	2.31448420
59	Abnormal biliary tract physiology (HP:0012439)	2.31448420
60	Renal dysplasia (HP:0000110)	2.25744162
61	Tubulointerstitial nephritis (HP:0001970)	2.23055356
62	Enlarged kidneys (HP:0000105)	2.22139534
63	Abnormality of midbrain morphology (HP:0002418)	2.21407434
64	Molar tooth sign on MRI (HP:0002419)	2.21407434
65	Clumsiness (HP:0002312)	2.19675538
66	Dyschromatopsia (HP:0007641)	2.15680071
67	Hypothermia (HP:0002045)	2.14639995
68	Decreased activity of mitochondrial respiratory chain (HP:0008972)	2.14626116
69	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	2.14626116
70	Abnormality of the incisor (HP:0000676)	2.11982583
71	Germ cell neoplasia (HP:0100728)	2.11644840
72	Acute lymphatic leukemia (HP:0006721)	2.09807734
73	Abolished electroretinogram (ERG) (HP:0000550)	2.08784543
74	Hepatoblastoma (HP:0002884)	2.08506053
75	Protruding tongue (HP:0010808)	2.08059549
76	Abnormality of the lumbar spine (HP:0100712)	2.05712398
77	Chronic hepatic failure (HP:0100626)	2.01662240
78	Centrally nucleated skeletal muscle fibers (HP:0003687)	2.01603949
79	Rhinitis (HP:0012384)	2.00651193
80	Syncope (HP:0001279)	1.97058854
81	Optic nerve hypoplasia (HP:0000609)	1.96909665
82	Tubulointerstitial abnormality (HP:0001969)	1.93178610
83	Anencephaly (HP:0002323)	1.88747945
84	Sclerocornea (HP:0000647)	1.87603814
85	Buphthalmos (HP:0000557)	1.87100196
86	Inability to walk (HP:0002540)	1.85826800
87	Recurrent corneal erosions (HP:0000495)	1.83611252
88	Ketosis (HP:0001946)	1.83039354
89	Abnormal drinking behavior (HP:0030082)	1.82152294
90	Polydipsia (HP:0001959)	1.82152294
91	Aplasia involving bones of the upper limbs (HP:0009823)	1.81329747
92	Aplasia of the phalanges of the hand (HP:0009802)	1.81329747
93	Aplasia involving bones of the extremities (HP:0009825)	1.81329747
94	Intellectual disability, progressive (HP:0006887)	1.75724975
95	Retinal atrophy (HP:0001105)	1.75034445
96	Calf muscle hypertrophy (HP:0008981)	1.74234335
97	Scapular winging (HP:0003691)	1.74148712
98	Postaxial foot polydactyly (HP:0001830)	1.73118299
99	Muscular dystrophy (HP:0003560)	1.72200738
100	Exercise-induced myalgia (HP:0003738)	1.72141903

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	MARK3	4.95439595
2	NEK2	3.34426230
3	MYLK	3.16896632
4	LATS1	3.10378544
5	MAP2K7	2.58776894
6	ZAK	2.47524117
7	OBSCN	2.38236058
8	STK38L	2.10828844
9	PINK1	10.1365696
10	TLK1	1.99971820
11	CSNK1A1L	1.75398051
12	BMPR1B	1.73086670
13	LATS2	1.71919421
14	CDK3	1.65262192
15	CSNK1G3	1.58623496
16	RPS6KA5	1.56354258
17	SGK223	1.46589692
18	SGK494	1.46589692
19	MAPK15	1.46129609
20	ARAF	1.42771333
21	MOS	1.39629387
22	CSNK1G2	1.37563789
23	DYRK2	1.22608185
24	FRK	1.21522861
25	STK38	1.20089951
26	CSNK1G1	1.19818311
27	TIE1	1.19687260
28	DYRK3	1.11638392
29	NME2	1.10293213
30	PRKCQ	0.98638534
31	CDK14	0.96660982
32	MAP3K9	0.92594645
33	TGFBR1	0.76236182
34	MAP3K13	0.75434871
35	EIF2AK3	0.74700824
36	DAPK3	0.73570863
37	SGK2	0.73505112
38	NME1	0.71513604
39	ICK	0.70917856
40	PRKG2	0.68735468
41	GRK1	0.68257036
42	RPS6KB1	0.64980909
43	RPS6KA4	0.62524662
44	CDK5	0.61093539
45	MAP3K1	0.59747060
46	ROCK1	0.57968020
47	AKT2	0.57897493
48	CAMK1	0.57222913
49	RET	0.55205109
50	PAK2	0.54777973
51	BTK	0.54693212
52	CDC42BPA	0.54322684
53	PAK1	0.54068939
54	MAPK13	0.53163081
55	CASK	0.52659032
56	INSRR	0.51978768
57	MINK1	0.51719367
58	MAP3K5	0.48753813
59	MELK	0.48501603
60	GRK5	0.48441195
61	EEF2K	0.48164410
62	MAP3K4	0.45357346
63	VRK1	0.43721943
64	FGFR2	0.43344634
65	PAK3	0.38905599
66	PKN2	0.37713658
67	EGFR	0.37593741
68	RPS6KA2	0.37266349
69	FES	0.36934991
70	NTRK2	0.36655388
71	IRAK2	0.36395531
72	CSNK1A1	0.34886492
73	EPHA4	0.34182784
74	PTK2B	0.33141511
75	CAMKK1	0.33114014
76	PRKG1	0.33020450
77	MAPK12	0.32916697
78	CSNK1D	0.31109864
79	LRRK2	0.30848537
80	ADRBK2	0.30685681
81	NTRK3	0.30253412
82	CDK15	0.26876484
83	ATM	0.24726096
84	CAMK4	0.24691949
85	FGR	0.24579728
86	ILK	0.24366058
87	CDK18	0.24016741
88	MUSK	0.23365879
89	MTOR	0.22941854
90	CDK11A	0.21809473
91	STK3	0.20768042
92	TNK2	0.20756160
93	SGK3	0.20502182
94	MAP3K10	0.20406517
95	WNK4	0.19244550
96	CDK8	0.18335796
97	TYRO3	0.18038716
98	PLK1	0.18022828
99	RPS6KA1	0.17807706
100	PRKAA1	0.17230824

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	4.88748439
2	Gap junction_Homo sapiens_hsa04540	3.69074648
3	Olfactory transduction_Homo sapiens_hsa04740	3.45169809
4	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	3.31078658
5	Nitrogen metabolism_Homo sapiens_hsa00910	2.79191050
6	Hedgehog signaling pathway_Homo sapiens_hsa04340	2.71872375
7	Propanoate metabolism_Homo sapiens_hsa00640	2.42576526
8	Butanoate metabolism_Homo sapiens_hsa00650	2.42028031
9	Alcoholism_Homo sapiens_hsa05034	1.90251172
10	beta-Alanine metabolism_Homo sapiens_hsa00410	1.87967364
11	Systemic lupus erythematosus_Homo sapiens_hsa05322	1.84118243
12	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.77767195
13	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.77640133
14	Chemical carcinogenesis_Homo sapiens_hsa05204	1.76224668
15	Apoptosis_Homo sapiens_hsa04210	1.72106559
16	Vascular smooth muscle contraction_Homo sapiens_hsa04270	1.71343647
17	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.63000047
18	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	1.62913568
19	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.58561310
20	Phagosome_Homo sapiens_hsa04145	1.58559436
21	Arginine biosynthesis_Homo sapiens_hsa00220	1.45782079
22	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.41771256
23	Oxytocin signaling pathway_Homo sapiens_hsa04921	1.41357302
24	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	1.36208629
25	Circadian rhythm_Homo sapiens_hsa04710	1.30892693
26	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	1.25530433
27	Renin secretion_Homo sapiens_hsa04924	1.23636289
28	Circadian entrainment_Homo sapiens_hsa04713	1.23545887
29	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	1.20970540
30	Sulfur relay system_Homo sapiens_hsa04122	1.19640128
31	Glutathione metabolism_Homo sapiens_hsa00480	1.19178188
32	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.17022370
33	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.16323680
34	Basal transcription factors_Homo sapiens_hsa03022	1.13632385
35	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	1.11416677
36	Gastric acid secretion_Homo sapiens_hsa04971	1.07819060
37	Phototransduction_Homo sapiens_hsa04744	1.07215496
38	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.06909191
39	RNA degradation_Homo sapiens_hsa03018	1.02424546
40	Fatty acid degradation_Homo sapiens_hsa00071	1.00724548
41	Taste transduction_Homo sapiens_hsa04742	1.00465925
42	Dilated cardiomyopathy_Homo sapiens_hsa05414	0.99908507
43	Peroxisome_Homo sapiens_hsa04146	0.96600308
44	GABAergic synapse_Homo sapiens_hsa04727	0.95062718
45	Axon guidance_Homo sapiens_hsa04360	0.92531314
46	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	0.92071080
47	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	0.85718100
48	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.83517124
49	Glucagon signaling pathway_Homo sapiens_hsa04922	0.77910902
50	Salivary secretion_Homo sapiens_hsa04970	0.76197808
51	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.72016085
52	Melanoma_Homo sapiens_hsa05218	0.71751923
53	Purine metabolism_Homo sapiens_hsa00230	0.70465531
54	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.67452237
55	Phenylalanine metabolism_Homo sapiens_hsa00360	0.66525973
56	Wnt signaling pathway_Homo sapiens_hsa04310	0.64973495
57	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.63296238
58	Calcium signaling pathway_Homo sapiens_hsa04020	0.62578262
59	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.62522032
60	Dopaminergic synapse_Homo sapiens_hsa04728	0.60664271
61	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.60206701
62	Oocyte meiosis_Homo sapiens_hsa04114	0.59119536
63	Tryptophan metabolism_Homo sapiens_hsa00380	0.58351953
64	Parkinsons disease_Homo sapiens_hsa05012	0.58193268
65	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.58078099
66	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.57753039
67	Pyruvate metabolism_Homo sapiens_hsa00620	0.56506714
68	PPAR signaling pathway_Homo sapiens_hsa03320	0.55820374
69	Cocaine addiction_Homo sapiens_hsa05030	0.53438050
70	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.53199552
71	AMPK signaling pathway_Homo sapiens_hsa04152	0.50859016
72	Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923	0.50706636
73	Glutamatergic synapse_Homo sapiens_hsa04724	0.48884376
74	Hippo signaling pathway_Homo sapiens_hsa04390	0.47873224
75	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	0.47396448
76	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.46932812
77	Metabolic pathways_Homo sapiens_hsa01100	0.46874051
78	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.46671361
79	Steroid biosynthesis_Homo sapiens_hsa00100	0.45218967
80	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.44770263
81	Retinol metabolism_Homo sapiens_hsa00830	0.44553172
82	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.44310904
83	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.43841237
84	Sphingolipid signaling pathway_Homo sapiens_hsa04071	0.43191234
85	Ribosome_Homo sapiens_hsa03010	0.40984390
86	Morphine addiction_Homo sapiens_hsa05032	0.40795606
87	Tyrosine metabolism_Homo sapiens_hsa00350	0.40190193
88	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	0.39841465
89	mRNA surveillance pathway_Homo sapiens_hsa03015	0.37100123
90	Fanconi anemia pathway_Homo sapiens_hsa03460	0.36998059
91	Insulin secretion_Homo sapiens_hsa04911	0.36235548
92	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.36188835
93	Endometrial cancer_Homo sapiens_hsa05213	0.36057225
94	Choline metabolism in cancer_Homo sapiens_hsa05231	0.34170225
95	Cholinergic synapse_Homo sapiens_hsa04725	0.34113518
96	cAMP signaling pathway_Homo sapiens_hsa04024	0.33787284
97	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.32638067
98	Nicotine addiction_Homo sapiens_hsa05033	0.32583427
99	Linoleic acid metabolism_Homo sapiens_hsa00591	0.31660718
100	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.31219702

DEFB109P3

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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