ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	behavioral response to nicotine (GO:0035095)	5.14349104
2	fucose catabolic process (GO:0019317)	4.19495690
3	L-fucose metabolic process (GO:0042354)	4.19495690
4	L-fucose catabolic process (GO:0042355)	4.19495690
5	protein-cofactor linkage (GO:0018065)	4.05216481
6	regulation of hexokinase activity (GO:1903299)	3.92889891
7	regulation of glucokinase activity (GO:0033131)	3.92889891
8	cellular ketone body metabolic process (GO:0046950)	3.90100196
9	pyrimidine ribonucleoside catabolic process (GO:0046133)	3.79390114
10	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.74070651
11	DNA deamination (GO:0045006)	3.65968873
12	indolalkylamine catabolic process (GO:0046218)	3.60329414
13	tryptophan catabolic process (GO:0006569)	3.60329414
14	indole-containing compound catabolic process (GO:0042436)	3.60329414
15	indolalkylamine metabolic process (GO:0006586)	3.59026335
16	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.56810274
17	ketone body metabolic process (GO:1902224)	3.53464606
18	piRNA metabolic process (GO:0034587)	3.49492286
19	mannosylation (GO:0097502)	3.46264704
20	kynurenine metabolic process (GO:0070189)	3.41843484
21	platelet dense granule organization (GO:0060155)	3.33128152
22	neural tube formation (GO:0001841)	3.31678208
23	retinal cone cell development (GO:0046549)	3.22169319
24	axoneme assembly (GO:0035082)	3.21633638
25	tryptophan metabolic process (GO:0006568)	3.19154789
26	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.09978281
27	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.09978281
28	NADH dehydrogenase complex assembly (GO:0010257)	3.09978281
29	response to pheromone (GO:0019236)	3.09487200
30	protein complex biogenesis (GO:0070271)	3.06423913
31	detection of light stimulus involved in visual perception (GO:0050908)	3.02787602
32	detection of light stimulus involved in sensory perception (GO:0050962)	3.02787602
33	water-soluble vitamin biosynthetic process (GO:0042364)	3.02586284
34	sulfation (GO:0051923)	3.00330305
35	negative regulation of telomere maintenance (GO:0032205)	2.99896834
36	positive regulation of gastrulation (GO:2000543)	2.99322414
37	kidney morphogenesis (GO:0060993)	2.98454655
38	epithelial cilium movement (GO:0003351)	2.95348764
39	neuronal action potential (GO:0019228)	2.94099552
40	mitochondrial respiratory chain complex assembly (GO:0033108)	2.92963034
41	somite rostral/caudal axis specification (GO:0032525)	2.91796110
42	pyrimidine nucleobase catabolic process (GO:0006208)	2.90402110
43	limb bud formation (GO:0060174)	2.89333475
44	reciprocal DNA recombination (GO:0035825)	2.88475967
45	reciprocal meiotic recombination (GO:0007131)	2.88475967
46	dopamine transport (GO:0015872)	2.85402403
47	nonmotile primary cilium assembly (GO:0035058)	2.80594285
48	negative regulation of mast cell activation (GO:0033004)	2.80091240
49	DNA methylation involved in gamete generation (GO:0043046)	2.78298325
50	protein K11-linked deubiquitination (GO:0035871)	2.76821023
51	behavioral response to ethanol (GO:0048149)	2.76175363
52	regulation of action potential (GO:0098900)	2.75563842
53	establishment of protein localization to mitochondrial membrane (GO:0090151)	2.72881188
54	cornea development in camera-type eye (GO:0061303)	2.72859850
55	rRNA catabolic process (GO:0016075)	2.72346179
56	protein polyglutamylation (GO:0018095)	2.71837424
57	respiratory chain complex IV assembly (GO:0008535)	2.70761561
58	indole-containing compound metabolic process (GO:0042430)	2.69661953
59	somite development (GO:0061053)	2.69514164
60	replication fork processing (GO:0031297)	2.67452456
61	male meiosis (GO:0007140)	2.63471474
62	nucleobase catabolic process (GO:0046113)	2.63108726
63	cellular biogenic amine catabolic process (GO:0042402)	2.62018337
64	amine catabolic process (GO:0009310)	2.62018337
65	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	2.60321592
66	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	2.60321592
67	cilium morphogenesis (GO:0060271)	2.57654418
68	cilium organization (GO:0044782)	2.57621418
69	photoreceptor cell development (GO:0042461)	2.56681664
70	cilium or flagellum-dependent cell motility (GO:0001539)	2.56111458
71	preassembly of GPI anchor in ER membrane (GO:0016254)	2.55084275
72	protein localization to cilium (GO:0061512)	2.53868254
73	cilium movement (GO:0003341)	2.53430005
74	inner ear receptor stereocilium organization (GO:0060122)	2.53163026
75	reflex (GO:0060004)	2.52654386
76	photoreceptor cell maintenance (GO:0045494)	2.52370659
77	negative regulation of translation, ncRNA-mediated (GO:0040033)	2.51405560
78	regulation of translation, ncRNA-mediated (GO:0045974)	2.51405560
79	negative regulation of translation involved in gene silencing by miRNA (GO:0035278)	2.51405560
80	regulation of cilium movement (GO:0003352)	2.51201787
81	phosphatidylinositol acyl-chain remodeling (GO:0036149)	2.50015566
82	DNA double-strand break processing (GO:0000729)	2.49869384
83	positive regulation of sodium ion transmembrane transporter activity (GO:2000651)	2.49779095
84	nucleoside diphosphate catabolic process (GO:0009134)	2.48772586
85	gamma-aminobutyric acid transport (GO:0015812)	2.47933452
86	centriole replication (GO:0007099)	2.47026587
87	negative regulation of transcription regulatory region DNA binding (GO:2000678)	2.46984606
88	male meiosis I (GO:0007141)	2.46854830
89	ubiquinone biosynthetic process (GO:0006744)	2.46761943
90	multicellular organism reproduction (GO:0032504)	2.46567951
91	retinal ganglion cell axon guidance (GO:0031290)	2.46028568
92	recombinational repair (GO:0000725)	2.45933288
93	cilium assembly (GO:0042384)	2.45724204
94	double-strand break repair via homologous recombination (GO:0000724)	2.45567183
95	regulation of nuclear cell cycle DNA replication (GO:0033262)	2.44840667
96	spinal cord motor neuron differentiation (GO:0021522)	2.44177771
97	positive regulation of oligodendrocyte differentiation (GO:0048714)	2.43946727
98	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	2.41342290
99	positive regulation of defense response to virus by host (GO:0002230)	2.40178521
100	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	2.39746206

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	3.82281021
2	VDR_22108803_ChIP-Seq_LS180_Human	3.26409216
3	GBX2_23144817_ChIP-Seq_PC3_Human	2.98938145
4	EZH2_22144423_ChIP-Seq_EOC_Human	2.92960838
5	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.72939844
6	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.52022023
7	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.43210906
8	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.41914155
9	IGF1R_20145208_ChIP-Seq_DFB_Human	2.41061022
10	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	2.38965307
11	FUS_26573619_Chip-Seq_HEK293_Human	2.28603362
12	EWS_26573619_Chip-Seq_HEK293_Human	2.20819931
13	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.10728253
14	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.10451968
15	* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.08131307
16	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.06323066
17	P300_19829295_ChIP-Seq_ESCs_Human	2.05369677
18	ER_23166858_ChIP-Seq_MCF-7_Human	1.95535383
19	TAF15_26573619_Chip-Seq_HEK293_Human	1.91121345
20	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.90020263
21	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.89682767
22	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.85110035
23	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.79162411
24	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.79145300
25	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.78514493
26	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.68797662
27	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.61482226
28	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.61077218
29	TP53_22573176_ChIP-Seq_HFKS_Human	1.58295185
30	CBP_20019798_ChIP-Seq_JUKART_Human	1.56224144
31	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.56224144
32	BCAT_22108803_ChIP-Seq_LS180_Human	1.55332415
33	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.54645650
34	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.53302101
35	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.50450958
36	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.48971043
37	STAT3_23295773_ChIP-Seq_U87_Human	1.48948671
38	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.48914781
39	SMAD4_21799915_ChIP-Seq_A2780_Human	1.48235114
40	AR_25329375_ChIP-Seq_VCAP_Human	1.47025021
41	IRF1_19129219_ChIP-ChIP_H3396_Human	1.46974950
42	MYC_18940864_ChIP-ChIP_HL60_Human	1.44958115
43	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.44815375
44	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.44789139
45	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.44782889
46	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.44782889
47	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.43974052
48	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.41181382
49	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.39699931
50	TCF4_23295773_ChIP-Seq_U87_Human	1.37861078
51	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.37746218
52	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.36862127
53	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.35848204
54	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.34873727
55	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.34468308
56	NANOG_19829295_ChIP-Seq_ESCs_Human	1.31736899
57	SOX2_19829295_ChIP-Seq_ESCs_Human	1.31736899
58	TCF4_22108803_ChIP-Seq_LS180_Human	1.31534967
59	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.31456100
60	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.27636090
61	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.27566426
62	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.27390594
63	AR_21572438_ChIP-Seq_LNCaP_Human	1.26630455
64	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.26377115
65	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.26377115
66	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.25682573
67	RUNX2_22187159_ChIP-Seq_PCA_Human	1.25465278
68	REST_21632747_ChIP-Seq_MESCs_Mouse	1.24818781
69	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.24764957
70	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.22479915
71	ELK1_19687146_ChIP-ChIP_HELA_Human	1.21870749
72	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.18579242
73	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.18339345
74	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.17980329
75	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.17639484
76	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.17497783
77	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.16034988
78	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.15462925
79	* VDR_23849224_ChIP-Seq_CD4+_Human	1.15245708
80	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.14847239
81	RNF2_27304074_Chip-Seq_NSC_Mouse	1.13845116
82	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.13828530
83	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.12417580
84	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.12396958
85	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.11947877
86	NCOR_22424771_ChIP-Seq_293T_Human	1.08733974
87	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.08729635
88	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.08421069
89	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.08383745
90	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.05810583
91	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.05783952
92	HOXB7_26014856_ChIP-Seq_BT474_Human	1.05594613
93	P53_22387025_ChIP-Seq_ESCs_Mouse	1.04532541
94	AR_20517297_ChIP-Seq_VCAP_Human	1.04356589
95	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.01966847
96	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.00483894
97	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	0.99562932
98	STAT3_18555785_Chip-Seq_ESCs_Mouse	0.95624010
99	CDX2_22108803_ChIP-Seq_LS180_Human	0.93102577
100	TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse	0.91718869

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0000569_abnormal_digit_pigmentation	3.14895861
2	MP0008877_abnormal_DNA_methylation	3.00668960
3	MP0003195_calcinosis	2.80360074
4	MP0002102_abnormal_ear_morphology	2.68164534
5	MP0005551_abnormal_eye_electrophysiolog	2.49553924
6	MP0002638_abnormal_pupillary_reflex	2.46573100
7	MP0002837_dystrophic_cardiac_calcinosis	2.20849904
8	MP0006072_abnormal_retinal_apoptosis	2.15946706
9	MP0006292_abnormal_olfactory_placode	1.99585596
10	MP0001968_abnormal_touch/_nociception	1.98663260
11	MP0004742_abnormal_vestibular_system	1.92356169
12	MP0005645_abnormal_hypothalamus_physiol	1.92274893
13	MP0002653_abnormal_ependyma_morphology	1.90038013
14	MP0004142_abnormal_muscle_tone	1.89997775
15	MP0004133_heterotaxia	1.89868281
16	MP0005084_abnormal_gallbladder_morpholo	1.87315013
17	MP0005253_abnormal_eye_physiology	1.84505583
18	MP0002277_abnormal_respiratory_mucosa	1.81536329
19	MP0001485_abnormal_pinna_reflex	1.80096182
20	MP0004885_abnormal_endolymph	1.77922134
21	MP0008872_abnormal_physiological_respon	1.76779594
22	MP0002736_abnormal_nociception_after	1.76645140
23	MP0009745_abnormal_behavioral_response	1.75654568
24	MP0003787_abnormal_imprinting	1.70985582
25	MP0003136_yellow_coat_color	1.69742755
26	MP0000372_irregular_coat_pigmentation	1.69473514
27	MP0009046_muscle_twitch	1.67270694
28	MP0001986_abnormal_taste_sensitivity	1.66308660
29	MP0000631_abnormal_neuroendocrine_gland	1.62712845
30	MP0003890_abnormal_embryonic-extraembry	1.56949691
31	MP0002876_abnormal_thyroid_physiology	1.56789653
32	MP0005174_abnormal_tail_pigmentation	1.56166818
33	MP0002272_abnormal_nervous_system	1.55637878
34	MP0000427_abnormal_hair_cycle	1.55143514
35	MP0005646_abnormal_pituitary_gland	1.54455919
36	MP0003011_delayed_dark_adaptation	1.53826360
37	MP0008875_abnormal_xenobiotic_pharmacok	1.52730742
38	MP0003646_muscle_fatigue	1.51695302
39	MP0001486_abnormal_startle_reflex	1.51536347
40	MP0006276_abnormal_autonomic_nervous	1.45037286
41	MP0003880_abnormal_central_pattern	1.43646198
42	MP0004043_abnormal_pH_regulation	1.41693833
43	MP0002234_abnormal_pharynx_morphology	1.38691209
44	MP0002928_abnormal_bile_duct	1.36765723
45	MP0001529_abnormal_vocalization	1.36628815
46	MP0000778_abnormal_nervous_system	1.34238496
47	MP0003283_abnormal_digestive_organ	1.33590863
48	MP0002938_white_spotting	1.31274169
49	MP0002557_abnormal_social/conspecific_i	1.27386825
50	MP0002160_abnormal_reproductive_system	1.26718149
51	MP0005389_reproductive_system_phenotype	1.26316196
52	MP0001501_abnormal_sleep_pattern	1.26078260
53	MP0002064_seizures	1.25713819
54	MP0002572_abnormal_emotion/affect_behav	1.22927443
55	MP0003878_abnormal_ear_physiology	1.17616947
56	MP0005377_hearing/vestibular/ear_phenot	1.17616947
57	MP0002067_abnormal_sensory_capabilities	1.17041001
58	MP0000383_abnormal_hair_follicle	1.16710126
59	MP0002735_abnormal_chemical_nociception	1.15885035
60	MP0004145_abnormal_muscle_electrophysio	1.14579965
61	MP0005195_abnormal_posterior_eye	1.13905178
62	MP0008058_abnormal_DNA_repair	1.12092854
63	MP0001919_abnormal_reproductive_system	1.09015294
64	MP0005386_behavior/neurological_phenoty	1.08751958
65	MP0004924_abnormal_behavior	1.08751958
66	MP0002733_abnormal_thermal_nociception	1.08432583
67	MP0002751_abnormal_autonomic_nervous	1.05885740
68	MP0004147_increased_porphyrin_level	1.05016078
69	MP0001970_abnormal_pain_threshold	1.03261884
70	MP0001905_abnormal_dopamine_level	1.02996455
71	MP0003718_maternal_effect	1.01758856
72	MP0001984_abnormal_olfaction	1.00846512
73	MP0003119_abnormal_digestive_system	0.98740498
74	MP0001502_abnormal_circadian_rhythm	0.98670480
75	MP0002095_abnormal_skin_pigmentation	0.97829747
76	MP0002752_abnormal_somatic_nervous	0.95407707
77	MP0003635_abnormal_synaptic_transmissio	0.95300101
78	MP0001764_abnormal_homeostasis	0.94825574
79	MP0008995_early_reproductive_senescence	0.92048687
80	MP0005379_endocrine/exocrine_gland_phen	0.91377914
81	MP0003698_abnormal_male_reproductive	0.90940948
82	MP0005075_abnormal_melanosome_morpholog	0.89430866
83	MP0001324_abnormal_eye_pigmentation	0.89222345
84	MP0002229_neurodegeneration	0.87854920
85	MP0002063_abnormal_learning/memory/cond	0.87313380
86	MP0001293_anophthalmia	0.87151987
87	MP0002184_abnormal_innervation	0.86346885
88	MP0000647_abnormal_sebaceous_gland	0.86174287
89	MP0002734_abnormal_mechanical_nocicepti	0.86030271
90	MP0001929_abnormal_gametogenesis	0.85328069
91	MP0000026_abnormal_inner_ear	0.85228628
92	MP0002163_abnormal_gland_morphology	0.84972969
93	MP0002909_abnormal_adrenal_gland	0.82972579
94	MP0002138_abnormal_hepatobiliary_system	0.82332232
95	MP0000015_abnormal_ear_pigmentation	0.80978486
96	MP0001963_abnormal_hearing_physiology	0.80946786
97	MP0002210_abnormal_sex_determination	0.80810159
98	MP0005410_abnormal_fertilization	0.79031260
99	MP0008961_abnormal_basal_metabolism	0.78574002
100	MP0005391_vision/eye_phenotype	0.77553198

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Type II lissencephaly (HP:0007260)	5.30497516
2	Pancreatic cysts (HP:0001737)	4.36275610
3	Molar tooth sign on MRI (HP:0002419)	3.95393277
4	Abnormality of midbrain morphology (HP:0002418)	3.95393277
5	Congenital stationary night blindness (HP:0007642)	3.80438120
6	Pancreatic fibrosis (HP:0100732)	3.77450670
7	True hermaphroditism (HP:0010459)	3.74117850
8	Cerebellar dysplasia (HP:0007033)	3.52117335
9	Retinal dysplasia (HP:0007973)	3.39793422
10	Nephronophthisis (HP:0000090)	3.37996256
11	Abnormality of the renal cortex (HP:0011035)	3.25699150
12	Lissencephaly (HP:0001339)	3.17553675
13	Abnormality of the renal medulla (HP:0100957)	2.96994697
14	Chronic hepatic failure (HP:0100626)	2.96205246
15	Hyperventilation (HP:0002883)	2.76509391
16	Abnormality of the pons (HP:0007361)	2.74041747
17	Abolished electroretinogram (ERG) (HP:0000550)	2.73238615
18	Hypoplasia of the pons (HP:0012110)	2.72986426
19	Medial flaring of the eyebrow (HP:0010747)	2.71201749
20	Pendular nystagmus (HP:0012043)	2.69436929
21	Abnormal rod and cone electroretinograms (HP:0008323)	2.50965429
22	Renal cortical cysts (HP:0000803)	2.49885259
23	Cystic liver disease (HP:0006706)	2.44286289
24	Inability to walk (HP:0002540)	2.44043147
25	Tubular atrophy (HP:0000092)	2.42041945
26	Pachygyria (HP:0001302)	2.41100874
27	Progressive inability to walk (HP:0002505)	2.40546878
28	Attenuation of retinal blood vessels (HP:0007843)	2.39993319
29	Absent/shortened dynein arms (HP:0200106)	2.38476027
30	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.38476027
31	Polydipsia (HP:0001959)	2.37713365
32	Abnormal drinking behavior (HP:0030082)	2.37713365
33	Hypothermia (HP:0002045)	2.29099071
34	Sclerocornea (HP:0000647)	2.29059080
35	Congenital, generalized hypertrichosis (HP:0004540)	2.27551002
36	Progressive cerebellar ataxia (HP:0002073)	2.24576311
37	Mitochondrial inheritance (HP:0001427)	2.18853389
38	Large for gestational age (HP:0001520)	2.18237282
39	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.15477635
40	Abnormality of alanine metabolism (HP:0010916)	2.15477635
41	Hyperalaninemia (HP:0003348)	2.15477635
42	3-Methylglutaconic aciduria (HP:0003535)	2.13717491
43	Anterior segment dysgenesis (HP:0007700)	2.13397142
44	Optic nerve hypoplasia (HP:0000609)	2.13300839
45	Abnormality of the labia minora (HP:0012880)	2.13157927
46	Keratoconus (HP:0000563)	2.11961081
47	Increased corneal curvature (HP:0100692)	2.11961081
48	Bile duct proliferation (HP:0001408)	2.11877374
49	Abnormal biliary tract physiology (HP:0012439)	2.11877374
50	Acute necrotizing encephalopathy (HP:0006965)	2.11691702
51	Furrowed tongue (HP:0000221)	2.10155016
52	Increased CSF lactate (HP:0002490)	2.09022104
53	Anencephaly (HP:0002323)	2.06668482
54	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.05481357
55	Decreased central vision (HP:0007663)	2.05188399
56	Abnormal respiratory motile cilium morphology (HP:0005938)	2.05084583
57	Abnormal respiratory epithelium morphology (HP:0012253)	2.05084583
58	Congenital hepatic fibrosis (HP:0002612)	2.03276676
59	Male pseudohermaphroditism (HP:0000037)	2.03173232
60	Gaze-evoked nystagmus (HP:0000640)	2.02644515
61	Stomach cancer (HP:0012126)	2.02643685
62	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.00125563
63	Colon cancer (HP:0003003)	1.99397040
64	Progressive macrocephaly (HP:0004481)	1.97972237
65	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	1.96395173
66	Gait imbalance (HP:0002141)	1.96337517
67	Broad-based gait (HP:0002136)	1.95267372
68	Bilateral microphthalmos (HP:0007633)	1.94630758
69	Patellar aplasia (HP:0006443)	1.93654888
70	Acute encephalopathy (HP:0006846)	1.92748180
71	Lipid accumulation in hepatocytes (HP:0006561)	1.92506659
72	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.91400619
73	Severe muscular hypotonia (HP:0006829)	1.91303727
74	Congenital primary aphakia (HP:0007707)	1.90542146
75	Aplasia/Hypoplasia of the uvula (HP:0010293)	1.88689053
76	Decreased electroretinogram (ERG) amplitude (HP:0000654)	1.88570940
77	Dandy-Walker malformation (HP:0001305)	1.88482103
78	Intestinal atresia (HP:0011100)	1.88314129
79	Aplasia/Hypoplasia of the patella (HP:0006498)	1.87073833
80	Polyuria (HP:0000103)	1.85679151
81	Nephrogenic diabetes insipidus (HP:0009806)	1.82349437
82	Abnormal ciliary motility (HP:0012262)	1.82231765
83	Genetic anticipation (HP:0003743)	1.81779292
84	Methylmalonic acidemia (HP:0002912)	1.80936333
85	Fair hair (HP:0002286)	1.79816283
86	Increased hepatocellular lipid droplets (HP:0006565)	1.78095665
87	Partial agenesis of the corpus callosum (HP:0001338)	1.77952499
88	Aplasia/hypoplasia of the uterus (HP:0008684)	1.77528326
89	Genital tract atresia (HP:0001827)	1.77248661
90	Optic disc pallor (HP:0000543)	1.76267570
91	Protruding tongue (HP:0010808)	1.76203817
92	Ketoacidosis (HP:0001993)	1.74523362
93	Hepatic necrosis (HP:0002605)	1.72210018
94	Abnormal mitochondria in muscle tissue (HP:0008316)	1.71998711
95	Oligodactyly (hands) (HP:0001180)	1.68921338
96	Hepatocellular necrosis (HP:0001404)	1.68318175
97	Vaginal atresia (HP:0000148)	1.68259724
98	Ketosis (HP:0001946)	1.67752393
99	Chorioretinal atrophy (HP:0000533)	1.66361733
100	Decreased circulating renin level (HP:0003351)	1.65979723

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	5.32052605
2	ADRBK2	3.17422657
3	WNK3	2.58136720
4	BMPR1B	2.57257391
5	PINK1	2.49827069
6	ZAK	2.47009984
7	MAP4K2	2.43304936
8	NUAK1	2.27239354
9	ACVR1B	2.21308662
10	INSRR	2.18428467
11	GRK1	2.05651146
12	MAPK13	1.95923488
13	CASK	1.91430130
14	WNK4	1.86479804
15	TAOK3	1.80757603
16	BRSK2	1.78425134
17	PNCK	1.71732640
18	TLK1	1.70257978
19	MAP3K4	1.63957088
20	VRK1	1.58916595
21	TNIK	1.57140212
22	CAMKK2	1.54631132
23	TXK	1.52207374
24	MKNK2	1.48509102
25	OXSR1	1.43510757
26	MAPK15	1.40147175
27	MARK1	1.32482590
28	PAK3	1.31200280
29	STK39	1.30512029
30	ADRBK1	1.25164065
31	TRIM28	1.24595569
32	DYRK2	1.22374614
33	DAPK2	1.21773629
34	MAP2K7	0.98425962
35	TGFBR1	0.94810812
36	FGFR2	0.94135099
37	STK16	0.93385523
38	PTK2B	0.91470275
39	VRK2	0.89227263
40	PLK2	0.88264502
41	PRKCE	0.86444053
42	WEE1	0.85753212
43	PRKCG	0.83594000
44	MKNK1	0.82429793
45	MAPKAPK3	0.79667578
46	MARK3	0.78850334
47	CSNK1G2	0.75389017
48	MST4	0.74904901
49	IKBKB	0.73401008
50	CSNK1G1	0.72181500
51	BCR	0.71684408
52	AKT3	0.71152495
53	CHUK	0.70482554
54	KIT	0.69974652
55	STK11	0.69561860
56	PLK3	0.69069691
57	MUSK	0.68823953
58	NME1	0.66992218
59	PRKCQ	0.66375594
60	NTRK2	0.66049676
61	CSNK1G3	0.65428744
62	TEC	0.64282177
63	BCKDK	0.63722811
64	RPS6KA5	0.63345173
65	ERBB3	0.62902390
66	CSNK1A1L	0.62872562
67	MAPKAPK5	0.62184982
68	TAF1	0.57213586
69	IRAK1	0.56469507
70	GRK7	0.55897930
71	NLK	0.55350985
72	PHKG1	0.55240168
73	PHKG2	0.55240168
74	TIE1	0.53862100
75	NTRK3	0.52544366
76	PIK3CA	0.49172511
77	PRKCI	0.48946303
78	PKN1	0.45426461
79	PRKACA	0.44242839
80	CAMK2A	0.43479037
81	SGK2	0.41829889
82	ITK	0.39910766
83	SIK2	0.39430553
84	STK3	0.39019079
85	DYRK1A	0.38106395
86	PRKCZ	0.37474798
87	CSNK1A1	0.37446620
88	MAP2K6	0.36808844
89	CHEK2	0.33179534
90	SYK	0.32946760
91	OBSCN	0.32828367
92	PASK	0.31753562
93	CSNK1D	0.31626591
94	EIF2AK3	0.30963697
95	STK38L	0.29957281
96	PIM1	0.29368494
97	CSF1R	0.29132856
98	PRKG1	0.28289839
99	PRKCA	0.28243480
100	GRK5	0.28196101

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	3.33224599
2	Linoleic acid metabolism_Homo sapiens_hsa00591	2.71243554
3	Phototransduction_Homo sapiens_hsa04744	2.66514447
4	Butanoate metabolism_Homo sapiens_hsa00650	2.64384427
5	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.60033371
6	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.55954868
7	Oxidative phosphorylation_Homo sapiens_hsa00190	2.54737120
8	Nitrogen metabolism_Homo sapiens_hsa00910	2.23865606
9	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.19307302
10	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	2.17084732
11	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.07246448
12	Protein export_Homo sapiens_hsa03060	2.04346047
13	Parkinsons disease_Homo sapiens_hsa05012	1.92069666
14	Ether lipid metabolism_Homo sapiens_hsa00565	1.91569824
15	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.90545725
16	RNA polymerase_Homo sapiens_hsa03020	1.88827643
17	Nicotine addiction_Homo sapiens_hsa05033	1.82586909
18	Fanconi anemia pathway_Homo sapiens_hsa03460	1.79863947
19	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.79076910
20	Selenocompound metabolism_Homo sapiens_hsa00450	1.78815105
21	Homologous recombination_Homo sapiens_hsa03440	1.75800963
22	Basal transcription factors_Homo sapiens_hsa03022	1.73350117
23	Tryptophan metabolism_Homo sapiens_hsa00380	1.64721502
24	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.62036505
25	Caffeine metabolism_Homo sapiens_hsa00232	1.44561042
26	Propanoate metabolism_Homo sapiens_hsa00640	1.35757732
27	Huntingtons disease_Homo sapiens_hsa05016	1.33474570
28	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.30867124
29	Taste transduction_Homo sapiens_hsa04742	1.25533721
30	RNA degradation_Homo sapiens_hsa03018	1.23987429
31	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.21140928
32	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.19801975
33	Olfactory transduction_Homo sapiens_hsa04740	1.18597102
34	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.18485247
35	Alzheimers disease_Homo sapiens_hsa05010	1.17774065
36	Regulation of autophagy_Homo sapiens_hsa04140	1.16246510
37	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.16042476
38	Morphine addiction_Homo sapiens_hsa05032	1.12609212
39	Cardiac muscle contraction_Homo sapiens_hsa04260	1.11844538
40	One carbon pool by folate_Homo sapiens_hsa00670	1.09071324
41	Peroxisome_Homo sapiens_hsa04146	1.08051611
42	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.02681067
43	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.00929402
44	Chemical carcinogenesis_Homo sapiens_hsa05204	1.00824793
45	ABC transporters_Homo sapiens_hsa02010	0.96397261
46	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.93032319
47	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.92173292
48	Proteasome_Homo sapiens_hsa03050	0.91769270
49	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.89903475
50	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.88093614
51	Collecting duct acid secretion_Homo sapiens_hsa04966	0.87577329
52	Asthma_Homo sapiens_hsa05310	0.86216871
53	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.85083863
54	Purine metabolism_Homo sapiens_hsa00230	0.83022895
55	Insulin secretion_Homo sapiens_hsa04911	0.79851129
56	Ribosome_Homo sapiens_hsa03010	0.79306629
57	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.78997235
58	Serotonergic synapse_Homo sapiens_hsa04726	0.78329762
59	Primary immunodeficiency_Homo sapiens_hsa05340	0.77992210
60	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.77232342
61	Circadian entrainment_Homo sapiens_hsa04713	0.76962063
62	Retinol metabolism_Homo sapiens_hsa00830	0.73209761
63	GABAergic synapse_Homo sapiens_hsa04727	0.71978547
64	Non-homologous end-joining_Homo sapiens_hsa03450	0.71803234
65	Mismatch repair_Homo sapiens_hsa03430	0.71451787
66	Glutamatergic synapse_Homo sapiens_hsa04724	0.69004490
67	Fat digestion and absorption_Homo sapiens_hsa04975	0.68258437
68	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.65097833
69	beta-Alanine metabolism_Homo sapiens_hsa00410	0.64665073
70	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.63667310
71	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.63311857
72	Steroid biosynthesis_Homo sapiens_hsa00100	0.63056005
73	Sulfur metabolism_Homo sapiens_hsa00920	0.62255219
74	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.62101024
75	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.61823118
76	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.61431169
77	Salivary secretion_Homo sapiens_hsa04970	0.60945754
78	Type I diabetes mellitus_Homo sapiens_hsa04940	0.59990777
79	Pyrimidine metabolism_Homo sapiens_hsa00240	0.58317279
80	Circadian rhythm_Homo sapiens_hsa04710	0.57133806
81	Calcium signaling pathway_Homo sapiens_hsa04020	0.56786760
82	Metabolic pathways_Homo sapiens_hsa01100	0.55932556
83	Nucleotide excision repair_Homo sapiens_hsa03420	0.55135668
84	Glycerolipid metabolism_Homo sapiens_hsa00561	0.53360474
85	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.48223729
86	Graft-versus-host disease_Homo sapiens_hsa05332	0.45561321
87	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.45351200
88	Cocaine addiction_Homo sapiens_hsa05030	0.42793906
89	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.39713901
90	Histidine metabolism_Homo sapiens_hsa00340	0.39288500
91	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.39052718
92	Dopaminergic synapse_Homo sapiens_hsa04728	0.38774416
93	Autoimmune thyroid disease_Homo sapiens_hsa05320	0.37481848
94	Allograft rejection_Homo sapiens_hsa05330	0.37404864
95	Mineral absorption_Homo sapiens_hsa04978	0.36480195
96	Rheumatoid arthritis_Homo sapiens_hsa05323	0.34629644
97	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.32541874
98	NOD-like receptor signaling pathway_Homo sapiens_hsa04621	0.32411253
99	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.32052873
100	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.31726977

ZNF490

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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