ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	response to pheromone (GO:0019236)	5.64132014
2	cellular ketone body metabolic process (GO:0046950)	4.54989390
3	respiratory chain complex IV assembly (GO:0008535)	4.24926446
4	regulation of hexokinase activity (GO:1903299)	4.11838601
5	regulation of glucokinase activity (GO:0033131)	4.11838601
6	ketone body metabolic process (GO:1902224)	4.06566871
7	cytochrome complex assembly (GO:0017004)	4.01383126
8	protein complex biogenesis (GO:0070271)	3.90889406
9	single strand break repair (GO:0000012)	3.85958029
10	fucose catabolic process (GO:0019317)	3.84645945
11	L-fucose metabolic process (GO:0042354)	3.84645945
12	L-fucose catabolic process (GO:0042355)	3.84645945
13	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.82136898
14	behavioral response to nicotine (GO:0035095)	3.77924857
15	negative regulation of neurological system process (GO:0031645)	3.73468004
16	water-soluble vitamin biosynthetic process (GO:0042364)	3.69823987
17	regulation of ER to Golgi vesicle-mediated transport (GO:0060628)	3.69025713
18	mitochondrial respiratory chain complex assembly (GO:0033108)	3.61382932
19	negative regulation of mast cell activation (GO:0033004)	3.60559585
20	piRNA metabolic process (GO:0034587)	3.54841245
21	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.50602123
22	NADH dehydrogenase complex assembly (GO:0010257)	3.50602123
23	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.50602123
24	protein prenylation (GO:0018342)	3.47679937
25	prenylation (GO:0097354)	3.47679937
26	epithelial cilium movement (GO:0003351)	3.36802071
27	axoneme assembly (GO:0035082)	3.34774656
28	kidney morphogenesis (GO:0060993)	3.32743974
29	detection of light stimulus involved in sensory perception (GO:0050962)	3.29873969
30	detection of light stimulus involved in visual perception (GO:0050908)	3.29873969
31	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.21297269
32	regulation of meiosis I (GO:0060631)	3.19849857
33	protein localization to cilium (GO:0061512)	3.11503988
34	rRNA catabolic process (GO:0016075)	3.10036635
35	DNA deamination (GO:0045006)	3.05183491
36	preassembly of GPI anchor in ER membrane (GO:0016254)	2.99273194
37	inositol phosphate catabolic process (GO:0071545)	2.92810554
38	DNA methylation involved in gamete generation (GO:0043046)	2.92051083
39	negative regulation of membrane potential (GO:0045837)	2.91936438
40	protein K11-linked deubiquitination (GO:0035871)	2.89794638
41	cilium organization (GO:0044782)	2.86607290
42	aggressive behavior (GO:0002118)	2.86344552
43	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	2.84118851
44	cilium assembly (GO:0042384)	2.82729978
45	regulation of action potential (GO:0098900)	2.79756888
46	neuronal action potential (GO:0019228)	2.78772780
47	cilium movement (GO:0003341)	2.78607449
48	peptidyl-histidine modification (GO:0018202)	2.76394400
49	protein-cofactor linkage (GO:0018065)	2.72925249
50	cilium or flagellum-dependent cell motility (GO:0001539)	2.70765164
51	photoreceptor cell maintenance (GO:0045494)	2.69270177
52	response to nitrosative stress (GO:0051409)	2.66542697
53	regulation of cilium movement (GO:0003352)	2.65102848
54	nonmotile primary cilium assembly (GO:0035058)	2.63991167
55	indolalkylamine metabolic process (GO:0006586)	2.62608211
56	regulation of rhodopsin mediated signaling pathway (GO:0022400)	2.62108526
57	rhodopsin mediated signaling pathway (GO:0016056)	2.60181563
58	reflex (GO:0060004)	2.59631723
59	thyroid hormone metabolic process (GO:0042403)	2.59311219
60	protein polyglutamylation (GO:0018095)	2.57196959
61	C4-dicarboxylate transport (GO:0015740)	2.57073829
62	inositol phosphate dephosphorylation (GO:0046855)	2.56563265
63	phosphorylated carbohydrate dephosphorylation (GO:0046838)	2.56563265
64	tryptophan catabolic process (GO:0006569)	2.55937607
65	indole-containing compound catabolic process (GO:0042436)	2.55937607
66	indolalkylamine catabolic process (GO:0046218)	2.55937607
67	neural tube formation (GO:0001841)	2.55114562
68	dentate gyrus development (GO:0021542)	2.55025503
69	GPI anchor metabolic process (GO:0006505)	2.53359662
70	negative regulation of synaptic transmission, glutamatergic (GO:0051967)	2.50900997
71	cilium morphogenesis (GO:0060271)	2.50633824
72	behavioral response to ethanol (GO:0048149)	2.50460082
73	negative regulation of cytosolic calcium ion concentration (GO:0051481)	2.48641770
74	C-terminal protein amino acid modification (GO:0018410)	2.48625468
75	platelet dense granule organization (GO:0060155)	2.48546557
76	auditory receptor cell differentiation (GO:0042491)	2.48327574
77	polyol catabolic process (GO:0046174)	2.48196015
78	presynaptic membrane assembly (GO:0097105)	2.48145160
79	negative regulation of synaptic transmission, GABAergic (GO:0032229)	2.47482113
80	nitric oxide mediated signal transduction (GO:0007263)	2.47453763
81	anterograde synaptic vesicle transport (GO:0048490)	2.47369936
82	auditory receptor cell stereocilium organization (GO:0060088)	2.46635540
83	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	2.46417061
84	retinal cone cell development (GO:0046549)	2.45817098
85	startle response (GO:0001964)	2.45000357
86	cornea development in camera-type eye (GO:0061303)	2.42658471
87	regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900151)	2.40427052
88	positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO	2.40427052
89	centriole replication (GO:0007099)	2.39049190
90	auditory behavior (GO:0031223)	2.38473790
91	positive regulation of meiosis (GO:0045836)	2.38193800
92	prostate gland growth (GO:0060736)	2.37966448
93	sperm motility (GO:0030317)	2.37745887
94	regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060211)	2.37520371
95	positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)	2.37520371
96	protein import into peroxisome matrix (GO:0016558)	2.36501906
97	male meiosis (GO:0007140)	2.36399396
98	protein K6-linked ubiquitination (GO:0085020)	2.35835165
99	dopamine transport (GO:0015872)	2.34235833
100	seminiferous tubule development (GO:0072520)	2.33093369

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	* ZNF274_21170338_ChIP-Seq_K562_Hela	3.44627231
2	VDR_22108803_ChIP-Seq_LS180_Human	3.28341277
3	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	3.26653505
4	GBX2_23144817_ChIP-Seq_PC3_Human	3.03449913
5	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.66118245
6	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.58247180
7	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.52991860
8	IGF1R_20145208_ChIP-Seq_DFB_Human	2.43537440
9	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.27562548
10	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.24295323
11	FUS_26573619_Chip-Seq_HEK293_Human	2.22000609
12	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.19265730
13	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.14766916
14	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.12245503
15	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.06457997
16	EZH2_22144423_ChIP-Seq_EOC_Human	2.06338369
17	TAF15_26573619_Chip-Seq_HEK293_Human	2.06067060
18	EWS_26573619_Chip-Seq_HEK293_Human	2.02567253
19	P300_19829295_ChIP-Seq_ESCs_Human	1.99019786
20	ER_23166858_ChIP-Seq_MCF-7_Human	1.92516590
21	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.89983171
22	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.71874773
23	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.71359901
24	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.65717966
25	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.64324792
26	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.62331945
27	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.57171927
28	* SMAD4_21799915_ChIP-Seq_A2780_Human	1.56032563
29	IRF1_19129219_ChIP-ChIP_H3396_Human	1.55905226
30	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.54724537
31	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.54146105
32	CBP_20019798_ChIP-Seq_JUKART_Human	1.52970987
33	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.52970987
34	AR_25329375_ChIP-Seq_VCAP_Human	1.51937955
35	STAT3_23295773_ChIP-Seq_U87_Human	1.51898480
36	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.51772184
37	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.50943381
38	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.49901899
39	TCF4_23295773_ChIP-Seq_U87_Human	1.49191253
40	TP53_22573176_ChIP-Seq_HFKS_Human	1.49151923
41	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.48704391
42	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.48583972
43	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.48428529
44	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.42385664
45	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.41955665
46	BCAT_22108803_ChIP-Seq_LS180_Human	1.40601513
47	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.38395546
48	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.37944032
49	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.37778620
50	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.36471744
51	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.36299911
52	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.35355513
53	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.34129783
54	AR_21572438_ChIP-Seq_LNCaP_Human	1.32318280
55	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.31961296
56	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.31891785
57	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.31743494
58	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.31743494
59	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.31166029
60	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.31107679
61	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.30406564
62	ELK1_19687146_ChIP-ChIP_HELA_Human	1.30249311
63	SOX2_19829295_ChIP-Seq_ESCs_Human	1.28783544
64	NANOG_19829295_ChIP-Seq_ESCs_Human	1.28783544
65	MYC_18940864_ChIP-ChIP_HL60_Human	1.28143453
66	RUNX2_22187159_ChIP-Seq_PCA_Human	1.22375880
67	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.22260046
68	TCF4_22108803_ChIP-Seq_LS180_Human	1.22122119
69	* VDR_23849224_ChIP-Seq_CD4+_Human	1.21719066
70	REST_21632747_ChIP-Seq_MESCs_Mouse	1.21654554
71	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.21615677
72	AR_20517297_ChIP-Seq_VCAP_Human	1.21098567
73	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.20976145
74	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.20027020
75	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.17949599
76	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.17703517
77	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.15174557
78	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.12401837
79	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.11642306
80	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.11537347
81	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.10755230
82	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.10614989
83	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.09906698
84	TAL1_26923725_Chip-Seq_HPCs_Mouse	1.09560770
85	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.09103940
86	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.09034142
87	NCOR_22424771_ChIP-Seq_293T_Human	1.08853478
88	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.07881772
89	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.07731325
90	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	1.05100677
91	CDX2_22108803_ChIP-Seq_LS180_Human	1.04311852
92	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.04264285
93	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.04264285
94	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.01846915
95	HOXB7_26014856_ChIP-Seq_BT474_Human	1.01155903
96	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.00915287
97	OCT4_21477851_ChIP-Seq_ESCs_Mouse	0.98974786
98	P53_22387025_ChIP-Seq_ESCs_Mouse	0.98740787
99	RNF2_27304074_Chip-Seq_NSC_Mouse	0.98121738
100	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	0.97762718

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003136_yellow_coat_color	3.18824241
2	MP0000372_irregular_coat_pigmentation	3.05007292
3	MP0006072_abnormal_retinal_apoptosis	2.77319169
4	MP0005645_abnormal_hypothalamus_physiol	2.72647224
5	MP0002876_abnormal_thyroid_physiology	2.67062538
6	MP0000569_abnormal_digit_pigmentation	2.64007315
7	MP0003195_calcinosis	2.50687373
8	MP0005551_abnormal_eye_electrophysiolog	2.28977424
9	MP0001986_abnormal_taste_sensitivity	2.27916976
10	MP0001501_abnormal_sleep_pattern	2.27302719
11	MP0008877_abnormal_DNA_methylation	2.15481834
12	MP0002938_white_spotting	2.10814249
13	MP0005174_abnormal_tail_pigmentation	2.09741366
14	MP0005253_abnormal_eye_physiology	2.06829001
15	MP0004885_abnormal_endolymph	2.01424445
16	MP0001984_abnormal_olfaction	1.97450426
17	MP0005646_abnormal_pituitary_gland	1.92730490
18	MP0004142_abnormal_muscle_tone	1.89724535
19	MP0003011_delayed_dark_adaptation	1.86649368
20	MP0003880_abnormal_central_pattern	1.83679584
21	MP0002163_abnormal_gland_morphology	1.78266261
22	MP0009046_muscle_twitch	1.76840059
23	MP0001968_abnormal_touch/_nociception	1.75595046
24	MP0002837_dystrophic_cardiac_calcinosis	1.74049338
25	MP0009745_abnormal_behavioral_response	1.72545754
26	MP0000516_abnormal_urinary_system	1.71788560
27	MP0005367_renal/urinary_system_phenotyp	1.71788560
28	MP0005379_endocrine/exocrine_gland_phen	1.68872336
29	MP0008995_early_reproductive_senescence	1.64835942
30	MP0005075_abnormal_melanosome_morpholog	1.62432075
31	MP0005084_abnormal_gallbladder_morpholo	1.62191289
32	MP0006292_abnormal_olfactory_placode	1.57939864
33	MP0000427_abnormal_hair_cycle	1.57936007
34	MP0002272_abnormal_nervous_system	1.56796561
35	MP0002095_abnormal_skin_pigmentation	1.56390959
36	MP0002102_abnormal_ear_morphology	1.53965269
37	MP0005187_abnormal_penis_morphology	1.53480441
38	MP0000015_abnormal_ear_pigmentation	1.51527628
39	MP0008058_abnormal_DNA_repair	1.51450601
40	MP0003122_maternal_imprinting	1.50420366
41	MP0008872_abnormal_physiological_respon	1.49913553
42	MP0004133_heterotaxia	1.49456483
43	MP0004147_increased_porphyrin_level	1.48292969
44	MP0002638_abnormal_pupillary_reflex	1.47684833
45	MP0004043_abnormal_pH_regulation	1.43591628
46	MP0008875_abnormal_xenobiotic_pharmacok	1.43320971
47	MP0000631_abnormal_neuroendocrine_gland	1.42557543
48	MP0002653_abnormal_ependyma_morphology	1.38469731
49	MP0002736_abnormal_nociception_after	1.31189900
50	MP0002064_seizures	1.29935450
51	MP0002928_abnormal_bile_duct	1.29235815
52	MP0002557_abnormal_social/conspecific_i	1.28523496
53	MP0000383_abnormal_hair_follicle	1.27887817
54	MP0002822_catalepsy	1.25680358
55	MP0002572_abnormal_emotion/affect_behav	1.18139940
56	MP0004742_abnormal_vestibular_system	1.15177419
57	MP0001905_abnormal_dopamine_level	1.13857777
58	MP0006276_abnormal_autonomic_nervous	1.10848560
59	MP0003718_maternal_effect	1.09173308
60	MP0004924_abnormal_behavior	1.08742195
61	MP0005386_behavior/neurological_phenoty	1.08742195
62	MP0010386_abnormal_urinary_bladder	1.07443405
63	MP0003787_abnormal_imprinting	1.05915381
64	MP0000538_abnormal_urinary_bladder	1.03657230
65	MP0003121_genomic_imprinting	1.02553289
66	MP0001486_abnormal_startle_reflex	1.01722630
67	MP0002733_abnormal_thermal_nociception	1.01347570
68	MP0005423_abnormal_somatic_nervous	1.00889497
69	MP0001970_abnormal_pain_threshold	1.00775637
70	MP0004215_abnormal_myocardial_fiber	1.00665699
71	MP0010678_abnormal_skin_adnexa	1.00522574
72	MP0002693_abnormal_pancreas_physiology	1.00312012
73	MP0002160_abnormal_reproductive_system	0.98549937
74	MP0002751_abnormal_autonomic_nervous	0.98424982
75	MP0005389_reproductive_system_phenotype	0.97261753
76	MP0001944_abnormal_pancreas_morphology	0.96637310
77	MP0003698_abnormal_male_reproductive	0.96330054
78	MP0003252_abnormal_bile_duct	0.95000042
79	MP0002067_abnormal_sensory_capabilities	0.94374168
80	MP0001929_abnormal_gametogenesis	0.94322166
81	MP0002229_neurodegeneration	0.92182186
82	MP0005085_abnormal_gallbladder_physiolo	0.92066372
83	MP0001502_abnormal_circadian_rhythm	0.91981506
84	MP0003646_muscle_fatigue	0.90141470
85	MP0001764_abnormal_homeostasis	0.89695530
86	MP0005410_abnormal_fertilization	0.87321289
87	MP0005220_abnormal_exocrine_pancreas	0.85592303
88	MP0009780_abnormal_chondrocyte_physiolo	0.84975373
89	MP0005195_abnormal_posterior_eye	0.84308000
90	MP0001529_abnormal_vocalization	0.82916114
91	MP0002735_abnormal_chemical_nociception	0.81958310
92	MP0000371_diluted_coat_color	0.81677727
93	MP0002210_abnormal_sex_determination	0.81471903
94	MP0001485_abnormal_pinna_reflex	0.81348171
95	MP0003633_abnormal_nervous_system	0.80992351
96	MP0003635_abnormal_synaptic_transmissio	0.79205438
97	MP0005332_abnormal_amino_acid	0.78705355
98	MP0006036_abnormal_mitochondrial_physio	0.76414231
99	MP0008775_abnormal_heart_ventricle	0.76235322
100	MP0002063_abnormal_learning/memory/cond	0.75361563

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Pancreatic cysts (HP:0001737)	3.92579067
2	Pancreatic fibrosis (HP:0100732)	3.89664539
3	Molar tooth sign on MRI (HP:0002419)	3.57639656
4	Abnormality of midbrain morphology (HP:0002418)	3.57639656
5	Nephronophthisis (HP:0000090)	3.57236550
6	True hermaphroditism (HP:0010459)	3.42655964
7	Congenital stationary night blindness (HP:0007642)	3.40287380
8	Progressive macrocephaly (HP:0004481)	3.38493757
9	Thyroiditis (HP:0100646)	3.38101948
10	Acute necrotizing encephalopathy (HP:0006965)	3.18933490
11	Hyperventilation (HP:0002883)	3.08656863
12	Abnormality of the renal medulla (HP:0100957)	3.07566703
13	Medial flaring of the eyebrow (HP:0010747)	3.02277395
14	Type II lissencephaly (HP:0007260)	3.01263378
15	Methylmalonic acidemia (HP:0002912)	2.96281877
16	Attenuation of retinal blood vessels (HP:0007843)	2.93608134
17	Mitochondrial inheritance (HP:0001427)	2.92951677
18	Abnormality of the renal cortex (HP:0011035)	2.88023651
19	Absent speech (HP:0001344)	2.82129123
20	Hypothermia (HP:0002045)	2.80420123
21	Abolished electroretinogram (ERG) (HP:0000550)	2.74672719
22	Abnormal mitochondria in muscle tissue (HP:0008316)	2.70432855
23	Hemiparesis (HP:0001269)	2.69503201
24	Increased CSF lactate (HP:0002490)	2.68588098
25	Chronic hepatic failure (HP:0100626)	2.67745113
26	Acute encephalopathy (HP:0006846)	2.56872549
27	Tubular atrophy (HP:0000092)	2.55408204
28	Abnormal rod and cone electroretinograms (HP:0008323)	2.52154032
29	Abnormality of macular pigmentation (HP:0008002)	2.46539773
30	Hepatocellular necrosis (HP:0001404)	2.41591488
31	Ketoacidosis (HP:0001993)	2.41257160
32	Methylmalonic aciduria (HP:0012120)	2.40696038
33	Optic nerve hypoplasia (HP:0000609)	2.40189693
34	Dialeptic seizures (HP:0011146)	2.39265447
35	Severe combined immunodeficiency (HP:0004430)	2.37012953
36	Cystic liver disease (HP:0006706)	2.36242342
37	Pendular nystagmus (HP:0012043)	2.34263069
38	Polydipsia (HP:0001959)	2.33007566
39	Abnormal drinking behavior (HP:0030082)	2.33007566
40	Renal cortical cysts (HP:0000803)	2.32871365
41	Hepatic necrosis (HP:0002605)	2.29301313
42	Gait imbalance (HP:0002141)	2.25491414
43	Congenital sensorineural hearing impairment (HP:0008527)	2.21921604
44	Congenital primary aphakia (HP:0007707)	2.19509110
45	Nephrogenic diabetes insipidus (HP:0009806)	2.19297254
46	Abnormality of vitamin B metabolism (HP:0004340)	2.18764401
47	Progressive cerebellar ataxia (HP:0002073)	2.16924117
48	Optic disc pallor (HP:0000543)	2.16162439
49	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	2.16040959
50	Bile duct proliferation (HP:0001408)	2.15341230
51	Abnormal biliary tract physiology (HP:0012439)	2.15341230
52	Cerebellar dysplasia (HP:0007033)	2.15140355
53	Focal motor seizures (HP:0011153)	2.14612635
54	Furrowed tongue (HP:0000221)	2.13425751
55	Hypoplasia of the fovea (HP:0007750)	2.09924221
56	Aplasia/Hypoplasia of the fovea (HP:0008060)	2.09924221
57	Congenital hepatic fibrosis (HP:0002612)	2.09686135
58	Gaze-evoked nystagmus (HP:0000640)	2.09401609
59	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.07492502
60	Large for gestational age (HP:0001520)	2.07380137
61	Inability to walk (HP:0002540)	2.07238680
62	Sclerocornea (HP:0000647)	2.07178152
63	Hypoplasia of the pons (HP:0012110)	2.07143600
64	Decreased central vision (HP:0007663)	2.07022870
65	Absent/shortened dynein arms (HP:0200106)	2.06082090
66	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.06082090
67	Fair hair (HP:0002286)	2.05624611
68	Abnormality of the fovea (HP:0000493)	2.04758092
69	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.04154282
70	Neoplasm of the adrenal cortex (HP:0100641)	2.03799618
71	Lipid accumulation in hepatocytes (HP:0006561)	2.02633962
72	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.01610197
73	Ketosis (HP:0001946)	1.99605761
74	3-Methylglutaconic aciduria (HP:0003535)	1.99276267
75	Febrile seizures (HP:0002373)	1.98877709
76	Stomatitis (HP:0010280)	1.96624278
77	Postaxial foot polydactyly (HP:0001830)	1.93372057
78	Bony spicule pigmentary retinopathy (HP:0007737)	1.92255399
79	Atonic seizures (HP:0010819)	1.92045364
80	Focal seizures (HP:0007359)	1.91958755
81	Abnormality of the pons (HP:0007361)	1.91760229
82	Occipital encephalocele (HP:0002085)	1.89971880
83	Broad-based gait (HP:0002136)	1.89456613
84	Lissencephaly (HP:0001339)	1.88725380
85	Cutaneous melanoma (HP:0012056)	1.88345936
86	Absence seizures (HP:0002121)	1.85317844
87	Progressive inability to walk (HP:0002505)	1.85159077
88	Retinal dysplasia (HP:0007973)	1.84397544
89	Thyroid-stimulating hormone excess (HP:0002925)	1.84275271
90	Increased corneal curvature (HP:0100692)	1.83859340
91	Keratoconus (HP:0000563)	1.83859340
92	Concave nail (HP:0001598)	1.83346344
93	Abnormality of the vitamin B12 metabolism (HP:0004341)	1.83117948
94	Genital tract atresia (HP:0001827)	1.82928598
95	Severe muscular hypotonia (HP:0006829)	1.81845581
96	Intestinal atresia (HP:0011100)	1.81157816
97	Hypoproteinemia (HP:0003075)	1.78401724
98	Protruding tongue (HP:0010808)	1.78075368
99	Hamartoma of the eye (HP:0010568)	1.77858042
100	Abnormal respiratory epithelium morphology (HP:0012253)	1.76666679

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	6.96656489
2	CASK	3.70020615
3	PINK1	2.88769898
4	BMPR1B	2.74540256
5	MAP4K2	2.39380055
6	TAOK3	2.36263417
7	MAPK13	2.35774115
8	ADRBK2	2.28226136
9	ZAK	2.21802773
10	FGFR2	2.16206684
11	GRK1	1.92475671
12	EIF2AK3	1.91924116
13	STK38L	1.84068913
14	WNK3	1.82800361
15	MAP3K4	1.81351488
16	INSRR	1.64685307
17	WNK4	1.58217561
18	TAOK1	1.57618086
19	TLK1	1.54240301
20	MAP2K7	1.49427985
21	PHKG1	1.33095351
22	PHKG2	1.33095351
23	MKNK2	1.33019417
24	OXSR1	1.26701294
25	MST4	1.24384199
26	NUAK1	1.20122330
27	STK39	1.17324008
28	PRKCE	1.11379818
29	CDK3	1.10833442
30	ACVR1B	1.09384773
31	CSNK1G3	1.07927609
32	BRSK2	1.04373662
33	TXK	1.02825641
34	CSNK1G2	0.98227646
35	CSNK1G1	0.97974429
36	PAK3	0.96207362
37	ERBB3	0.94830084
38	PLK2	0.94459610
39	MARK1	0.93184099
40	TRPM7	0.87180768
41	TRIM28	0.86535653
42	DYRK2	0.85890640
43	PKN1	0.84460684
44	DAPK2	0.79184328
45	CSNK1A1L	0.77101304
46	PTK2B	0.75967108
47	NTRK3	0.75384752
48	ADRBK1	0.74810002
49	VRK1	0.74439162
50	EPHA4	0.73986649
51	MKNK1	0.73219894
52	OBSCN	0.72701230
53	AKT3	0.72502764
54	PRKCG	0.70383367
55	IKBKB	0.69643055
56	STK11	0.68072160
57	STK38	0.66452179
58	BCKDK	0.66286963
59	EIF2AK1	0.65387240
60	MAPKAPK3	0.64395389
61	RPS6KA5	0.62284884
62	MAP2K6	0.58081894
63	PLK4	0.56013434
64	FER	0.55586012
65	CSNK1D	0.54774218
66	UHMK1	0.54332139
67	DYRK3	0.53220625
68	TNIK	0.52380339
69	TEC	0.51949950
70	GRK7	0.51800013
71	CAMK2A	0.51704747
72	TGFBR1	0.51404289
73	PRKG1	0.50349313
74	PIK3CA	0.50115952
75	EPHA3	0.47441901
76	BCR	0.47194610
77	PIK3CG	0.44546460
78	PRKCQ	0.43190854
79	MUSK	0.43168076
80	CAMK4	0.43000067
81	PLK3	0.42986212
82	STK3	0.42953967
83	FLT3	0.42304748
84	CSNK1A1	0.40861593
85	ATM	0.40860849
86	CAMK1	0.40648373
87	PRKACA	0.39782518
88	KIT	0.38607282
89	CAMKK2	0.37068621
90	PRKACB	0.35458920
91	CAMK2D	0.35284260
92	ERBB4	0.33836484
93	MARK3	0.33428616
94	NTRK2	0.30895635
95	ITK	0.30660700
96	PRKCI	0.30064933
97	TNK2	0.29368301
98	PNCK	0.29065617
99	TIE1	0.27627652
100	IRAK1	0.27171884

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	3.08389923
2	Butanoate metabolism_Homo sapiens_hsa00650	2.93216926
3	Phototransduction_Homo sapiens_hsa04744	2.92324254
4	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.81680229
5	Oxidative phosphorylation_Homo sapiens_hsa00190	2.69429929
6	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.57910505
7	Non-homologous end-joining_Homo sapiens_hsa03450	2.48439727
8	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	2.46311829
9	Protein export_Homo sapiens_hsa03060	2.27327171
10	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	2.23834931
11	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	2.04213957
12	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.90761415
13	Parkinsons disease_Homo sapiens_hsa05012	1.88761546
14	Nitrogen metabolism_Homo sapiens_hsa00910	1.86689651
15	Linoleic acid metabolism_Homo sapiens_hsa00591	1.79045039
16	Propanoate metabolism_Homo sapiens_hsa00640	1.74559005
17	Collecting duct acid secretion_Homo sapiens_hsa04966	1.72281273
18	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.65906786
19	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.65526315
20	Folate biosynthesis_Homo sapiens_hsa00790	1.64648085
21	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.55908671
22	Nicotine addiction_Homo sapiens_hsa05033	1.55281194
23	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.53639828
24	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.48797057
25	Taste transduction_Homo sapiens_hsa04742	1.46436314
26	Peroxisome_Homo sapiens_hsa04146	1.45505567
27	Caffeine metabolism_Homo sapiens_hsa00232	1.43898800
28	Tryptophan metabolism_Homo sapiens_hsa00380	1.42438487
29	Ether lipid metabolism_Homo sapiens_hsa00565	1.41885155
30	RNA polymerase_Homo sapiens_hsa03020	1.41711941
31	Olfactory transduction_Homo sapiens_hsa04740	1.39065433
32	Basal transcription factors_Homo sapiens_hsa03022	1.32515482
33	Selenocompound metabolism_Homo sapiens_hsa00450	1.29585106
34	ABC transporters_Homo sapiens_hsa02010	1.27163547
35	Fanconi anemia pathway_Homo sapiens_hsa03460	1.24998280
36	Huntingtons disease_Homo sapiens_hsa05016	1.24056665
37	Homologous recombination_Homo sapiens_hsa03440	1.23140047
38	RNA degradation_Homo sapiens_hsa03018	1.22808483
39	Alzheimers disease_Homo sapiens_hsa05010	1.15485909
40	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.12522769
41	Insulin secretion_Homo sapiens_hsa04911	1.10776138
42	Regulation of autophagy_Homo sapiens_hsa04140	1.06634253
43	Chemical carcinogenesis_Homo sapiens_hsa05204	1.05611940
44	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.01320496
45	Circadian entrainment_Homo sapiens_hsa04713	0.99680301
46	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.99153076
47	Morphine addiction_Homo sapiens_hsa05032	0.97756508
48	GABAergic synapse_Homo sapiens_hsa04727	0.97050560
49	Cardiac muscle contraction_Homo sapiens_hsa04260	0.87738270
50	Circadian rhythm_Homo sapiens_hsa04710	0.86170016
51	Glutamatergic synapse_Homo sapiens_hsa04724	0.85273257
52	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.84863230
53	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.84840398
54	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.84434365
55	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.84185365
56	Steroid biosynthesis_Homo sapiens_hsa00100	0.82213915
57	Serotonergic synapse_Homo sapiens_hsa04726	0.81544246
58	Sulfur metabolism_Homo sapiens_hsa00920	0.78976914
59	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.76805560
60	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.75639792
61	Fatty acid metabolism_Homo sapiens_hsa01212	0.75142847
62	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.74270270
63	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.72166541
64	Purine metabolism_Homo sapiens_hsa00230	0.70295344
65	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.68956915
66	Retinol metabolism_Homo sapiens_hsa00830	0.68364591
67	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.67344336
68	Cocaine addiction_Homo sapiens_hsa05030	0.66795956
69	Amphetamine addiction_Homo sapiens_hsa05031	0.66601912
70	Dopaminergic synapse_Homo sapiens_hsa04728	0.66056102
71	Metabolic pathways_Homo sapiens_hsa01100	0.65818601
72	Sulfur relay system_Homo sapiens_hsa04122	0.65684788
73	Type I diabetes mellitus_Homo sapiens_hsa04940	0.65086798
74	Salivary secretion_Homo sapiens_hsa04970	0.64195377
75	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.63622784
76	Glutathione metabolism_Homo sapiens_hsa00480	0.63082032
77	One carbon pool by folate_Homo sapiens_hsa00670	0.62812114
78	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.58701631
79	Calcium signaling pathway_Homo sapiens_hsa04020	0.57076661
80	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.56991002
81	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.55326466
82	beta-Alanine metabolism_Homo sapiens_hsa00410	0.53964188
83	Fatty acid degradation_Homo sapiens_hsa00071	0.53541452
84	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.52944657
85	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.51178527
86	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.48597698
87	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.48418952
88	Mineral absorption_Homo sapiens_hsa04978	0.43950562
89	Renin secretion_Homo sapiens_hsa04924	0.43929620
90	Nucleotide excision repair_Homo sapiens_hsa03420	0.42051074
91	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.39999045
92	Asthma_Homo sapiens_hsa05310	0.39541764
93	Pyrimidine metabolism_Homo sapiens_hsa00240	0.36491189
94	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.35390337
95	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.35013270
96	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.34760646
97	Primary immunodeficiency_Homo sapiens_hsa05340	0.34677813
98	cAMP signaling pathway_Homo sapiens_hsa04024	0.33260018
99	Glycerolipid metabolism_Homo sapiens_hsa00561	0.32298816
100	Proteasome_Homo sapiens_hsa03050	0.30298605

ZNF596

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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