ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	behavioral response to nicotine (GO:0035095)	5.56154168
2	DNA deamination (GO:0045006)	4.49324769
3	response to pheromone (GO:0019236)	4.01136919
4	L-fucose metabolic process (GO:0042354)	3.88199584
5	L-fucose catabolic process (GO:0042355)	3.88199584
6	fucose catabolic process (GO:0019317)	3.88199584
7	water-soluble vitamin biosynthetic process (GO:0042364)	3.82492200
8	negative regulation of telomere maintenance (GO:0032205)	3.79579999
9	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.77522331
10	NADH dehydrogenase complex assembly (GO:0010257)	3.77522331
11	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.77522331
12	indolalkylamine metabolic process (GO:0006586)	3.71420575
13	protein complex biogenesis (GO:0070271)	3.70621986
14	detection of light stimulus involved in visual perception (GO:0050908)	3.55667067
15	detection of light stimulus involved in sensory perception (GO:0050962)	3.55667067
16	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.45580254
17	protein polyglutamylation (GO:0018095)	3.45095102
18	respiratory chain complex IV assembly (GO:0008535)	3.44823406
19	cornea development in camera-type eye (GO:0061303)	3.44741018
20	piRNA metabolic process (GO:0034587)	3.41842474
21	mitochondrial respiratory chain complex assembly (GO:0033108)	3.41528066
22	indole-containing compound catabolic process (GO:0042436)	3.38062850
23	indolalkylamine catabolic process (GO:0046218)	3.38062850
24	tryptophan catabolic process (GO:0006569)	3.38062850
25	cytochrome complex assembly (GO:0017004)	3.35421141
26	axoneme assembly (GO:0035082)	3.32977034
27	kynurenine metabolic process (GO:0070189)	3.27761092
28	regulation of nuclear cell cycle DNA replication (GO:0033262)	3.21171834
29	preassembly of GPI anchor in ER membrane (GO:0016254)	3.21136929
30	cellular response to ATP (GO:0071318)	3.20435160
31	DNA methylation involved in gamete generation (GO:0043046)	3.17667173
32	negative regulation of transcription regulatory region DNA binding (GO:2000678)	3.15663296
33	somite development (GO:0061053)	3.10110876
34	cellular ketone body metabolic process (GO:0046950)	3.03240245
35	tryptophan metabolic process (GO:0006568)	2.99793027
36	neural tube formation (GO:0001841)	2.96979927
37	epithelial cilium movement (GO:0003351)	2.96689161
38	regulation of cilium movement (GO:0003352)	2.94250335
39	negative regulation of mast cell activation (GO:0033004)	2.94247084
40	mannosylation (GO:0097502)	2.91453131
41	regulation of telomere maintenance (GO:0032204)	2.91186546
42	nonmotile primary cilium assembly (GO:0035058)	2.88196444
43	positive regulation of triglyceride biosynthetic process (GO:0010867)	2.85724766
44	replication fork processing (GO:0031297)	2.85533657
45	behavioral response to ethanol (GO:0048149)	2.83042377
46	kidney morphogenesis (GO:0060993)	2.81786272
47	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	2.79239819
48	ketone body metabolic process (GO:1902224)	2.78287527
49	indole-containing compound metabolic process (GO:0042430)	2.76816793
50	cellular biogenic amine catabolic process (GO:0042402)	2.76374799
51	amine catabolic process (GO:0009310)	2.76374799
52	sulfation (GO:0051923)	2.76213376
53	rRNA catabolic process (GO:0016075)	2.75576956
54	transmission of nerve impulse (GO:0019226)	2.73060663
55	regulation of glucokinase activity (GO:0033131)	2.72777740
56	regulation of hexokinase activity (GO:1903299)	2.72777740
57	recombinational repair (GO:0000725)	2.71942086
58	double-strand break repair via homologous recombination (GO:0000724)	2.71909921
59	neuronal action potential (GO:0019228)	2.71281804
60	nephron tubule morphogenesis (GO:0072078)	2.69392861
61	nephron epithelium morphogenesis (GO:0072088)	2.69392861
62	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	2.69166582
63	ubiquinone biosynthetic process (GO:0006744)	2.68020775
64	cell proliferation in forebrain (GO:0021846)	2.67958739
65	negative regulation of translation involved in gene silencing by miRNA (GO:0035278)	2.67869430
66	negative regulation of translation, ncRNA-mediated (GO:0040033)	2.67869430
67	regulation of translation, ncRNA-mediated (GO:0045974)	2.67869430
68	pyrimidine nucleobase catabolic process (GO:0006208)	2.67544056
69	gamma-aminobutyric acid transport (GO:0015812)	2.67372310
70	spinal cord motor neuron differentiation (GO:0021522)	2.66705883
71	regulation of hippo signaling (GO:0035330)	2.66262794
72	positive regulation of fatty acid transport (GO:2000193)	2.65437024
73	positive regulation of defense response to virus by host (GO:0002230)	2.65178452
74	protein K6-linked ubiquitination (GO:0085020)	2.61269851
75	negative regulation of systemic arterial blood pressure (GO:0003085)	2.59029988
76	cilium movement (GO:0003341)	2.58680797
77	embryonic epithelial tube formation (GO:0001838)	2.56014336
78	regulation of rhodopsin mediated signaling pathway (GO:0022400)	2.55965276
79	GPI anchor metabolic process (GO:0006505)	2.54727660
80	membrane depolarization during cardiac muscle cell action potential (GO:0086012)	2.52019603
81	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	2.51823711
82	synaptic transmission, cholinergic (GO:0007271)	2.49870148
83	oxidative demethylation (GO:0070989)	2.49174838
84	rhodopsin mediated signaling pathway (GO:0016056)	2.49035966
85	transepithelial transport (GO:0070633)	2.48659073
86	regulation of mesoderm development (GO:2000380)	2.48534101
87	primary amino compound metabolic process (GO:1901160)	2.48284410
88	regulation of neurotransmitter uptake (GO:0051580)	2.48008072
89	ubiquinone metabolic process (GO:0006743)	2.47722493
90	protein-cofactor linkage (GO:0018065)	2.47670977
91	negative regulation of reactive oxygen species metabolic process (GO:2000378)	2.46331219
92	positive regulation of mitochondrial fission (GO:0090141)	2.45364677
93	adaptation of signaling pathway (GO:0023058)	2.45157098
94	regulation of triglyceride biosynthetic process (GO:0010866)	2.44339611
95	cilium organization (GO:0044782)	2.43920541
96	cilium morphogenesis (GO:0060271)	2.43234889
97	cellular response to exogenous dsRNA (GO:0071360)	2.40406252
98	tRNA modification (GO:0006400)	2.40291336
99	glycerophospholipid catabolic process (GO:0046475)	2.38654531
100	serotonin metabolic process (GO:0042428)	2.38525953

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	4.49618157
2	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	3.65540661
3	VDR_22108803_ChIP-Seq_LS180_Human	3.35644878
4	EZH2_22144423_ChIP-Seq_EOC_Human	2.95344814
5	GBX2_23144817_ChIP-Seq_PC3_Human	2.71467202
6	* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.53725350
7	NOTCH1_21737748_ChIP-Seq_TLL_Human	2.35394005
8	IGF1R_20145208_ChIP-Seq_DFB_Human	2.29590214
9	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.24385180
10	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.11792459
11	EWS_26573619_Chip-Seq_HEK293_Human	2.10003421
12	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.07791226
13	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.99694772
14	IRF1_19129219_ChIP-ChIP_H3396_Human	1.96862192
15	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.92601697
16	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.88791843
17	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.81814330
18	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.80806249
19	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.76228804
20	FUS_26573619_Chip-Seq_HEK293_Human	1.71634803
21	MYC_18940864_ChIP-ChIP_HL60_Human	1.65058260
22	ER_23166858_ChIP-Seq_MCF-7_Human	1.63936303
23	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.63541487
24	REST_21632747_ChIP-Seq_MESCs_Mouse	1.62346181
25	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.61465913
26	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.57637104
27	TP53_22573176_ChIP-Seq_HFKS_Human	1.55154553
28	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.55074274
29	P300_19829295_ChIP-Seq_ESCs_Human	1.49990729
30	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.49637853
31	TAF15_26573619_Chip-Seq_HEK293_Human	1.46296334
32	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.41284406
33	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.40565869
34	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.40407133
35	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.33640871
36	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.33433314
37	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.33433314
38	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.32115356
39	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.31897617
40	RNF2_27304074_Chip-Seq_NSC_Mouse	1.31346430
41	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.30964883
42	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.30630783
43	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.30467802
44	ERA_21632823_ChIP-Seq_H3396_Human	1.30432199
45	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.29378553
46	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.28624311
47	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	1.27611573
48	AR_25329375_ChIP-Seq_VCAP_Human	1.27318932
49	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.27152676
50	STAT3_23295773_ChIP-Seq_U87_Human	1.26830762
51	TCF4_23295773_ChIP-Seq_U87_Human	1.25123921
52	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.25062806
53	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.25062806
54	NCOR_22424771_ChIP-Seq_293T_Human	1.24204194
55	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.24000822
56	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.21263933
57	JARID2_20064375_ChIP-Seq_MESCs_Mouse	1.20931620
58	BCAT_22108803_ChIP-Seq_LS180_Human	1.20802374
59	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.19247902
60	HOXB7_26014856_ChIP-Seq_BT474_Human	1.17807740
61	CBP_20019798_ChIP-Seq_JUKART_Human	1.17358230
62	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.17358230
63	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.17290237
64	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.15425899
65	VDR_23849224_ChIP-Seq_CD4+_Human	1.14731336
66	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.14161057
67	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.12461007
68	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.11568336
69	TDRD3_21172665_ChIP-Seq_MCF-7_Human	1.11451059
70	REST_18959480_ChIP-ChIP_MESCs_Mouse	1.10672335
71	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.10367634
72	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.10159255
73	* ETS1_20019798_ChIP-Seq_JURKAT_Human	1.09692984
74	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.08975646
75	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.08594073
76	NANOG_19829295_ChIP-Seq_ESCs_Human	1.08340863
77	SOX2_19829295_ChIP-Seq_ESCs_Human	1.08340863
78	DROSHA_22980978_ChIP-Seq_HELA_Human	1.07842897
79	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.07045905
80	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.05915144
81	TAF2_19829295_ChIP-Seq_ESCs_Human	1.05914727
82	AR_20517297_ChIP-Seq_VCAP_Human	1.05432004
83	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.05372111
84	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.04442762
85	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.03893097
86	SMAD4_21799915_ChIP-Seq_A2780_Human	1.03659994
87	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.03487867
88	TCF4_22108803_ChIP-Seq_LS180_Human	1.03122937
89	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.01257693
90	OCT4_20526341_ChIP-Seq_ESCs_Human	0.99961066
91	NANOG_20526341_ChIP-Seq_ESCs_Human	0.97561217
92	MYC_19829295_ChIP-Seq_ESCs_Human	0.97424622
93	FLI1_21867929_ChIP-Seq_TH2_Mouse	0.95806426
94	PCGF2_27294783_Chip-Seq_ESCs_Mouse	0.95341319
95	P53_21459846_ChIP-Seq_SAOS-2_Human	0.95242861
96	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	0.94883483
97	RUNX2_22187159_ChIP-Seq_PCA_Human	0.94800782
98	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	0.94004578
99	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	0.93869054
100	FOXA1_21572438_ChIP-Seq_LNCaP_Human	0.93839757

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0008877_abnormal_DNA_methylation	3.12781494
2	MP0006292_abnormal_olfactory_placode	2.80203201
3	MP0001968_abnormal_touch/_nociception	2.55473143
4	MP0005646_abnormal_pituitary_gland	2.41980394
5	MP0003787_abnormal_imprinting	2.40856848
6	MP0003646_muscle_fatigue	2.39459514
7	MP0005551_abnormal_eye_electrophysiolog	2.34073896
8	MP0002653_abnormal_ependyma_morphology	2.33894094
9	MP0002736_abnormal_nociception_after	2.17399908
10	MP0003136_yellow_coat_color	2.16108365
11	MP0002876_abnormal_thyroid_physiology	2.10704855
12	MP0002102_abnormal_ear_morphology	2.10368714
13	MP0008872_abnormal_physiological_respon	2.08322240
14	MP0003195_calcinosis	2.05732746
15	MP0002837_dystrophic_cardiac_calcinosis	1.96193187
16	MP0004133_heterotaxia	1.91907968
17	MP0004885_abnormal_endolymph	1.89361350
18	MP0006072_abnormal_retinal_apoptosis	1.85170998
19	MP0005645_abnormal_hypothalamus_physiol	1.80125781
20	MP0000372_irregular_coat_pigmentation	1.72637726
21	MP0004142_abnormal_muscle_tone	1.71838728
22	MP0000631_abnormal_neuroendocrine_gland	1.70813903
23	MP0008875_abnormal_xenobiotic_pharmacok	1.69521795
24	MP0001986_abnormal_taste_sensitivity	1.69453573
25	MP0009745_abnormal_behavioral_response	1.66775380
26	MP0002160_abnormal_reproductive_system	1.64138289
27	MP0009046_muscle_twitch	1.61410888
28	MP0001485_abnormal_pinna_reflex	1.58411264
29	MP0002272_abnormal_nervous_system	1.57707219
30	MP0002638_abnormal_pupillary_reflex	1.57405253
31	MP0005174_abnormal_tail_pigmentation	1.56610217
32	MP0003880_abnormal_central_pattern	1.56270597
33	MP0006276_abnormal_autonomic_nervous	1.48573929
34	MP0005253_abnormal_eye_physiology	1.46997014
35	MP0008995_early_reproductive_senescence	1.41852953
36	MP0004043_abnormal_pH_regulation	1.41734148
37	MP0005389_reproductive_system_phenotype	1.39482820
38	MP0000015_abnormal_ear_pigmentation	1.34977391
39	MP0000427_abnormal_hair_cycle	1.29827225
40	MP0002163_abnormal_gland_morphology	1.29340957
41	MP0000569_abnormal_digit_pigmentation	1.29238479
42	MP0002938_white_spotting	1.28779259
43	MP0001486_abnormal_startle_reflex	1.24917100
44	MP0002064_seizures	1.21210388
45	MP0005075_abnormal_melanosome_morpholog	1.21153562
46	MP0005084_abnormal_gallbladder_morpholo	1.20287583
47	MP0002572_abnormal_emotion/affect_behav	1.20035504
48	MP0002735_abnormal_chemical_nociception	1.18715995
49	MP0003011_delayed_dark_adaptation	1.15805562
50	MP0005379_endocrine/exocrine_gland_phen	1.13370418
51	MP0004147_increased_porphyrin_level	1.11816457
52	MP0003283_abnormal_digestive_organ	1.10681897
53	MP0001970_abnormal_pain_threshold	1.09987156
54	MP0005195_abnormal_posterior_eye	1.09578382
55	MP0010386_abnormal_urinary_bladder	1.08801360
56	MP0002733_abnormal_thermal_nociception	1.08771414
57	MP0004145_abnormal_muscle_electrophysio	1.08357244
58	MP0002557_abnormal_social/conspecific_i	1.07842152
59	MP0002138_abnormal_hepatobiliary_system	1.06979611
60	MP0002751_abnormal_autonomic_nervous	1.06389158
61	MP0001501_abnormal_sleep_pattern	1.06291879
62	MP0000383_abnormal_hair_follicle	1.06178782
63	MP0002928_abnormal_bile_duct	1.05802593
64	MP0001529_abnormal_vocalization	1.04493423
65	MP0001984_abnormal_olfaction	1.02671831
66	MP0001919_abnormal_reproductive_system	1.01958902
67	MP0001764_abnormal_homeostasis	1.00374066
68	MP0000049_abnormal_middle_ear	0.99110758
69	MP0003635_abnormal_synaptic_transmissio	0.98884894
70	MP0003121_genomic_imprinting	0.98309273
71	MP0001502_abnormal_circadian_rhythm	0.92864896
72	MP0002184_abnormal_innervation	0.92853931
73	MP0004742_abnormal_vestibular_system	0.92825461
74	MP0002063_abnormal_learning/memory/cond	0.91920651
75	MP0002277_abnormal_respiratory_mucosa	0.91621035
76	MP0000026_abnormal_inner_ear	0.91019782
77	MP0002752_abnormal_somatic_nervous	0.90160288
78	MP0000778_abnormal_nervous_system	0.88844940
79	MP0008058_abnormal_DNA_repair	0.88610234
80	MP0008789_abnormal_olfactory_epithelium	0.88099517
81	MP0002067_abnormal_sensory_capabilities	0.87731605
82	MP0004924_abnormal_behavior	0.87204684
83	MP0005386_behavior/neurological_phenoty	0.87204684
84	MP0003698_abnormal_male_reproductive	0.87127486
85	MP0001324_abnormal_eye_pigmentation	0.86905348
86	MP0000538_abnormal_urinary_bladder	0.86659168
87	MP0001905_abnormal_dopamine_level	0.86194024
88	MP0000013_abnormal_adipose_tissue	0.85738241
89	MP0002095_abnormal_skin_pigmentation	0.84394839
90	MP0003938_abnormal_ear_development	0.84327308
91	MP0001963_abnormal_hearing_physiology	0.82942321
92	MP0003119_abnormal_digestive_system	0.82046672
93	MP0002229_neurodegeneration	0.80620343
94	MP0005332_abnormal_amino_acid	0.79783849
95	MP0002693_abnormal_pancreas_physiology	0.79155277
96	MP0001661_extended_life_span	0.78707040
97	MP0003718_maternal_effect	0.78013030
98	MP0002210_abnormal_sex_determination	0.77831805
99	MP0006035_abnormal_mitochondrial_morpho	0.77280440
100	MP0000516_abnormal_urinary_system	0.76538861

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Pancreatic cysts (HP:0001737)	4.38490171
2	Congenital stationary night blindness (HP:0007642)	3.95715331
3	Molar tooth sign on MRI (HP:0002419)	3.83882884
4	Abnormality of midbrain morphology (HP:0002418)	3.83882884
5	Pancreatic fibrosis (HP:0100732)	3.82570346
6	Nephronophthisis (HP:0000090)	3.76676803
7	True hermaphroditism (HP:0010459)	3.36491002
8	Abnormality of the renal medulla (HP:0100957)	3.24574638
9	Type II lissencephaly (HP:0007260)	3.21014288
10	Tubular atrophy (HP:0000092)	3.02446777
11	Medial flaring of the eyebrow (HP:0010747)	2.89434255
12	Abnormality of the renal cortex (HP:0011035)	2.86207642
13	Abnormal rod and cone electroretinograms (HP:0008323)	2.85214589
14	Attenuation of retinal blood vessels (HP:0007843)	2.84053000
15	Hyperventilation (HP:0002883)	2.79972471
16	Polydipsia (HP:0001959)	2.75689719
17	Abnormal drinking behavior (HP:0030082)	2.75689719
18	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.70119773
19	Abnormality of alanine metabolism (HP:0010916)	2.70119773
20	Hyperalaninemia (HP:0003348)	2.70119773
21	Pendular nystagmus (HP:0012043)	2.66813497
22	Cystic liver disease (HP:0006706)	2.59596347
23	Aplasia/Hypoplasia of the patella (HP:0006498)	2.48572502
24	Large for gestational age (HP:0001520)	2.48050534
25	Patellar aplasia (HP:0006443)	2.47217897
26	Abnormality of the renal collecting system (HP:0004742)	2.44201883
27	Hypoplasia of the pons (HP:0012110)	2.34221136
28	Sclerocornea (HP:0000647)	2.34057421
29	Abnormality of the pons (HP:0007361)	2.30356645
30	Protruding tongue (HP:0010808)	2.29561045
31	Abolished electroretinogram (ERG) (HP:0000550)	2.27961083
32	Methylmalonic acidemia (HP:0002912)	2.27906125
33	Cerebellar dysplasia (HP:0007033)	2.26906758
34	Chronic hepatic failure (HP:0100626)	2.23996501
35	Lissencephaly (HP:0001339)	2.23755649
36	Polyuria (HP:0000103)	2.22375168
37	Absent thumb (HP:0009777)	2.22004347
38	Gait imbalance (HP:0002141)	2.20528716
39	Severe muscular hypotonia (HP:0006829)	2.20351796
40	Inability to walk (HP:0002540)	2.19867250
41	Increased corneal curvature (HP:0100692)	2.17497560
42	Keratoconus (HP:0000563)	2.17497560
43	Methylmalonic aciduria (HP:0012120)	2.15883514
44	Duplicated collecting system (HP:0000081)	2.15560495
45	Acute necrotizing encephalopathy (HP:0006965)	2.13262523
46	Mitochondrial inheritance (HP:0001427)	2.12598755
47	Increased CSF lactate (HP:0002490)	2.11588450
48	Bony spicule pigmentary retinopathy (HP:0007737)	2.10560750
49	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.10085122
50	Congenital hepatic fibrosis (HP:0002612)	2.08146579
51	Congenital primary aphakia (HP:0007707)	2.08069646
52	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.06354937
53	Absent/shortened dynein arms (HP:0200106)	2.06354937
54	Hepatocellular necrosis (HP:0001404)	2.05640142
55	Anencephaly (HP:0002323)	2.05572492
56	Gaze-evoked nystagmus (HP:0000640)	2.05376253
57	Aplasia/Hypoplasia of the spleen (HP:0010451)	2.04708167
58	Broad-based gait (HP:0002136)	2.01699763
59	Bile duct proliferation (HP:0001408)	2.00331443
60	Abnormal biliary tract physiology (HP:0012439)	2.00331443
61	Nephrogenic diabetes insipidus (HP:0009806)	2.00165076
62	Tachypnea (HP:0002789)	1.99381673
63	Decreased electroretinogram (ERG) amplitude (HP:0000654)	1.99213205
64	Asplenia (HP:0001746)	1.95061884
65	Chorioretinal atrophy (HP:0000533)	1.95025291
66	Pachygyria (HP:0001302)	1.94696925
67	Ketosis (HP:0001946)	1.93976955
68	Clumsiness (HP:0002312)	1.93846081
69	Decreased circulating renin level (HP:0003351)	1.91772054
70	Decreased central vision (HP:0007663)	1.91301305
71	Acute encephalopathy (HP:0006846)	1.91080079
72	Rib fusion (HP:0000902)	1.90889812
73	Genetic anticipation (HP:0003743)	1.90301990
74	Progressive inability to walk (HP:0002505)	1.89615305
75	Abnormal mitochondria in muscle tissue (HP:0008316)	1.88009141
76	Progressive macrocephaly (HP:0004481)	1.85215513
77	Aplasia/Hypoplasia of the tongue (HP:0010295)	1.83399450
78	Furrowed tongue (HP:0000221)	1.80904768
79	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.80162594
80	Hepatic necrosis (HP:0002605)	1.79736720
81	Optic disc pallor (HP:0000543)	1.79691567
82	Aplasia/Hypoplasia of the uvula (HP:0010293)	1.79338824
83	Male pseudohermaphroditism (HP:0000037)	1.78265497
84	Genital tract atresia (HP:0001827)	1.78115006
85	Ectopic kidney (HP:0000086)	1.77526012
86	Concave nail (HP:0001598)	1.76677435
87	Ketoacidosis (HP:0001993)	1.75502167
88	Abnormality of DNA repair (HP:0003254)	1.73145469
89	Abnormal urine output (HP:0012590)	1.73096874
90	Progressive cerebellar ataxia (HP:0002073)	1.72997494
91	Hemiparesis (HP:0001269)	1.71279515
92	Vaginal atresia (HP:0000148)	1.70189001
93	Renal cortical cysts (HP:0000803)	1.69700506
94	Abnormal ciliary motility (HP:0012262)	1.67711663
95	Abnormality of the middle phalanx of the 5th finger (HP:0004219)	1.67606364
96	Preaxial hand polydactyly (HP:0001177)	1.66296775
97	Aplasia/hypoplasia of the uterus (HP:0008684)	1.66087707
98	Thyroid-stimulating hormone excess (HP:0002925)	1.64337886
99	Abnormality of the ileum (HP:0001549)	1.63798205
100	Abnormal respiratory epithelium morphology (HP:0012253)	1.63791257

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	5.78336405
2	ZAK	3.51416875
3	TLK1	3.27797056
4	ADRBK2	3.17588837
5	BMPR1B	2.97876285
6	PINK1	2.96029370
7	MAP4K2	2.79270990
8	GRK1	2.70639918
9	ACVR1B	2.49966370
10	TAOK3	2.17041574
11	WNK3	2.14554398
12	CASK	2.01890266
13	MAPK13	2.00475352
14	WNK4	1.97107174
15	INSRR	1.79507226
16	NUAK1	1.77026844
17	MAP3K4	1.74760101
18	STK39	1.35884216
19	MAP2K6	1.33752428
20	OXSR1	1.26337165
21	MAPKAPK3	1.23749463
22	ADRBK1	1.18597799
23	PHKG2	1.16578376
24	PHKG1	1.16578376
25	MAP2K7	1.12291784
26	VRK1	1.11127029
27	DAPK2	1.09753902
28	MARK1	1.09730998
29	MAPK15	1.08948909
30	PRKCG	1.06466473
31	CAMKK2	1.04179163
32	PAK3	1.03381873
33	BCKDK	0.99835825
34	FGFR2	0.99634368
35	DYRK2	0.94976523
36	PRKCI	0.94209296
37	MKNK2	0.93023390
38	PDK2	0.90254863
39	MUSK	0.86157867
40	TRIM28	0.84443039
41	TNIK	0.83716547
42	TNK2	0.83130112
43	NTRK3	0.81766817
44	AKT3	0.80429002
45	PRKCE	0.79502212
46	RPS6KA5	0.77388563
47	SIK2	0.76917952
48	PNCK	0.76856681
49	PKN1	0.76380854
50	FLT3	0.76284096
51	IKBKB	0.75069830
52	TEC	0.74564305
53	STK11	0.73499652
54	CSNK1G2	0.71076405
55	CAMK1	0.68454000
56	PRKCQ	0.67532402
57	TGFBR1	0.67162699
58	TXK	0.66867001
59	KIT	0.66788502
60	NME1	0.65540928
61	PTK2B	0.65236322
62	CSNK1G1	0.62996552
63	CSNK1G3	0.58707650
64	PRKAA1	0.57102558
65	PLK2	0.56612711
66	TIE1	0.56441265
67	STK16	0.55238709
68	PRKAA2	0.54915849
69	PRKCZ	0.51928599
70	MAP2K4	0.51059634
71	CSNK1A1L	0.50921969
72	RPS6KA6	0.50565118
73	NTRK2	0.50366420
74	CSNK1A1	0.48184109
75	MAP4K1	0.46243994
76	NLK	0.45651115
77	PRKACA	0.45530183
78	CDK8	0.45077716
79	MAPKAPK5	0.44822339
80	CHUK	0.44642959
81	PRKD2	0.44250924
82	CHEK2	0.44144331
83	STK38L	0.43396623
84	EPHA4	0.43369824
85	IRAK1	0.41489159
86	CAMK2A	0.40429633
87	PIK3CA	0.39944085
88	EPHA3	0.39209611
89	ATR	0.38465041
90	PIM1	0.38411779
91	MAP3K7	0.38287086
92	ITK	0.36519174
93	BRSK2	0.35961588
94	MAP2K2	0.34600000
95	RPS6KB1	0.34512437
96	CCNB1	0.34497688
97	MARK3	0.33801021
98	TAF1	0.33007568
99	PRKCH	0.32810386
100	PRKCA	0.32502092

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.78771344
2	Phototransduction_Homo sapiens_hsa04744	2.75195923
3	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	2.63641952
4	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.52997041
5	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	2.29194397
6	Linoleic acid metabolism_Homo sapiens_hsa00591	2.28252955
7	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.26275769
8	Homologous recombination_Homo sapiens_hsa03440	2.23662125
9	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.20169386
10	Selenocompound metabolism_Homo sapiens_hsa00450	2.18328537
11	Nitrogen metabolism_Homo sapiens_hsa00910	2.14003389
12	RNA polymerase_Homo sapiens_hsa03020	2.12856504
13	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	2.11088332
14	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	2.01655428
15	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.99868100
16	Fanconi anemia pathway_Homo sapiens_hsa03460	1.97511372
17	Basal transcription factors_Homo sapiens_hsa03022	1.92351739
18	Nicotine addiction_Homo sapiens_hsa05033	1.91017761
19	Butanoate metabolism_Homo sapiens_hsa00650	1.90620941
20	Oxidative phosphorylation_Homo sapiens_hsa00190	1.85923764
21	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.80160495
22	Ether lipid metabolism_Homo sapiens_hsa00565	1.78573090
23	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.63054419
24	Caffeine metabolism_Homo sapiens_hsa00232	1.62665269
25	Tryptophan metabolism_Homo sapiens_hsa00380	1.62026610
26	Taste transduction_Homo sapiens_hsa04742	1.40968325
27	RNA degradation_Homo sapiens_hsa03018	1.40091475
28	Parkinsons disease_Homo sapiens_hsa05012	1.30318722
29	One carbon pool by folate_Homo sapiens_hsa00670	1.28116804
30	ABC transporters_Homo sapiens_hsa02010	1.24407810
31	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.21934601
32	Sulfur relay system_Homo sapiens_hsa04122	1.20014541
33	Morphine addiction_Homo sapiens_hsa05032	1.19613670
34	Olfactory transduction_Homo sapiens_hsa04740	1.18747498
35	Peroxisome_Homo sapiens_hsa04146	1.17188749
36	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.16464458
37	Insulin secretion_Homo sapiens_hsa04911	1.13325762
38	Chemical carcinogenesis_Homo sapiens_hsa05204	1.12219195
39	Collecting duct acid secretion_Homo sapiens_hsa04966	1.09102542
40	Primary immunodeficiency_Homo sapiens_hsa05340	1.09032410
41	Glycerolipid metabolism_Homo sapiens_hsa00561	1.05156244
42	Sulfur metabolism_Homo sapiens_hsa00920	1.04315288
43	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.01105383
44	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.97648984
45	Huntingtons disease_Homo sapiens_hsa05016	0.95156797
46	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.94861053
47	Regulation of autophagy_Homo sapiens_hsa04140	0.89702029
48	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.88793530
49	Circadian entrainment_Homo sapiens_hsa04713	0.88555559
50	Glutamatergic synapse_Homo sapiens_hsa04724	0.88026172
51	Protein export_Homo sapiens_hsa03060	0.87451358
52	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.86219785
53	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.86217269
54	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.85771099
55	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.84218898
56	Serotonergic synapse_Homo sapiens_hsa04726	0.81881442
57	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.79193168
58	Alzheimers disease_Homo sapiens_hsa05010	0.78575976
59	Retinol metabolism_Homo sapiens_hsa00830	0.78474796
60	Purine metabolism_Homo sapiens_hsa00230	0.76195304
61	Propanoate metabolism_Homo sapiens_hsa00640	0.75188871
62	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.74991788
63	Pyrimidine metabolism_Homo sapiens_hsa00240	0.74961459
64	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.72397779
65	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.70594523
66	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.70338209
67	Calcium signaling pathway_Homo sapiens_hsa04020	0.69162678
68	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.68135499
69	Cardiac muscle contraction_Homo sapiens_hsa04260	0.66040202
70	GABAergic synapse_Homo sapiens_hsa04727	0.65780205
71	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.64988200
72	Metabolic pathways_Homo sapiens_hsa01100	0.64901884
73	Non-homologous end-joining_Homo sapiens_hsa03450	0.64148015
74	beta-Alanine metabolism_Homo sapiens_hsa00410	0.63893029
75	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.63068097
76	Salivary secretion_Homo sapiens_hsa04970	0.57532489
77	Cocaine addiction_Homo sapiens_hsa05030	0.53201008
78	Fat digestion and absorption_Homo sapiens_hsa04975	0.52239583
79	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.50713349
80	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.49235503
81	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.48110698
82	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.48006590
83	Lysine degradation_Homo sapiens_hsa00310	0.46921026
84	Cyanoamino acid metabolism_Homo sapiens_hsa00460	0.44728489
85	Dopaminergic synapse_Homo sapiens_hsa04728	0.43516534
86	Long-term depression_Homo sapiens_hsa04730	0.43288876
87	Nucleotide excision repair_Homo sapiens_hsa03420	0.42772119
88	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.41980594
89	Basal cell carcinoma_Homo sapiens_hsa05217	0.41269462
90	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	0.40064160
91	Cholinergic synapse_Homo sapiens_hsa04725	0.39869974
92	Histidine metabolism_Homo sapiens_hsa00340	0.39798458
93	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.39757646
94	Alcoholism_Homo sapiens_hsa05034	0.39348309
95	Asthma_Homo sapiens_hsa05310	0.38350170
96	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.36798459
97	cAMP signaling pathway_Homo sapiens_hsa04024	0.36686788
98	Renin secretion_Homo sapiens_hsa04924	0.35434216
99	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.33188660
100	Base excision repair_Homo sapiens_hsa03410	0.32399527

ZNF500

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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