ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	response to pheromone (GO:0019236)	6.03122899
2	behavioral response to nicotine (GO:0035095)	5.54818729
3	L-fucose metabolic process (GO:0042354)	4.51235213
4	L-fucose catabolic process (GO:0042355)	4.51235213
5	fucose catabolic process (GO:0019317)	4.51235213
6	indole-containing compound catabolic process (GO:0042436)	4.18526961
7	indolalkylamine catabolic process (GO:0046218)	4.18526961
8	tryptophan catabolic process (GO:0006569)	4.18526961
9	negative regulation of mast cell activation (GO:0033004)	4.13207569
10	kynurenine metabolic process (GO:0070189)	4.06167604
11	piRNA metabolic process (GO:0034587)	4.00144180
12	indolalkylamine metabolic process (GO:0006586)	3.97868485
13	protein polyglutamylation (GO:0018095)	3.84147329
14	water-soluble vitamin biosynthetic process (GO:0042364)	3.79309151
15	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.79282074
16	respiratory chain complex IV assembly (GO:0008535)	3.78807555
17	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.71392935
18	cellular ketone body metabolic process (GO:0046950)	3.60253425
19	tryptophan metabolic process (GO:0006568)	3.55144914
20	regulation of cilium movement (GO:0003352)	3.49102158
21	platelet dense granule organization (GO:0060155)	3.47557245
22	axoneme assembly (GO:0035082)	3.46290548
23	DNA deamination (GO:0045006)	3.39036700
24	epithelial cilium movement (GO:0003351)	3.38283032
25	detection of light stimulus involved in sensory perception (GO:0050962)	3.29515407
26	detection of light stimulus involved in visual perception (GO:0050908)	3.29515407
27	ketone body metabolic process (GO:1902224)	3.28831810
28	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.26998301
29	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.26998301
30	NADH dehydrogenase complex assembly (GO:0010257)	3.26998301
31	negative regulation of telomere maintenance (GO:0032205)	3.25292854
32	multicellular organism reproduction (GO:0032504)	3.20883507
33	rRNA catabolic process (GO:0016075)	3.20823888
34	protein complex biogenesis (GO:0070271)	3.19868364
35	cytochrome complex assembly (GO:0017004)	3.17424009
36	DNA methylation involved in gamete generation (GO:0043046)	3.14306077
37	retinal cone cell development (GO:0046549)	3.06605646
38	acrosome reaction (GO:0007340)	3.03164744
39	ubiquinone biosynthetic process (GO:0006744)	3.00420169
40	indole-containing compound metabolic process (GO:0042430)	2.96850937
41	preassembly of GPI anchor in ER membrane (GO:0016254)	2.95483441
42	amine catabolic process (GO:0009310)	2.93501266
43	cellular biogenic amine catabolic process (GO:0042402)	2.93501266
44	neural tube formation (GO:0001841)	2.87753999
45	behavioral response to ethanol (GO:0048149)	2.86371915
46	negative regulation of synaptic transmission, GABAergic (GO:0032229)	2.84517500
47	sperm motility (GO:0030317)	2.83577251
48	parturition (GO:0007567)	2.82965163
49	peptidyl-histidine modification (GO:0018202)	2.82436164
50	glycerophospholipid catabolic process (GO:0046475)	2.82136116
51	gamma-aminobutyric acid transport (GO:0015812)	2.80891365
52	mitochondrial respiratory chain complex assembly (GO:0033108)	2.80283549
53	regulation of action potential (GO:0098900)	2.78908707
54	photoreceptor cell maintenance (GO:0045494)	2.75822974
55	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	2.75462032
56	synaptic transmission, cholinergic (GO:0007271)	2.72302372
57	ubiquinone metabolic process (GO:0006743)	2.70047380
58	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	2.70024021
59	mannosylation (GO:0097502)	2.69748922
60	cilium morphogenesis (GO:0060271)	2.69694840
61	cAMP catabolic process (GO:0006198)	2.66839827
62	cilium movement (GO:0003341)	2.65863400
63	negative regulation of cytosolic calcium ion concentration (GO:0051481)	2.62938294
64	nonmotile primary cilium assembly (GO:0035058)	2.61668111
65	adaptation of signaling pathway (GO:0023058)	2.61066814
66	regulation of microtubule-based movement (GO:0060632)	2.59695945
67	aromatic amino acid family catabolic process (GO:0009074)	2.58983002
68	negative regulation of reactive oxygen species metabolic process (GO:2000378)	2.58571188
69	protein localization to cilium (GO:0061512)	2.57591513
70	L-methionine salvage (GO:0071267)	2.56459891
71	L-methionine biosynthetic process (GO:0071265)	2.56459891
72	amino acid salvage (GO:0043102)	2.56459891
73	protein K11-linked deubiquitination (GO:0035871)	2.56284530
74	membrane depolarization during cardiac muscle cell action potential (GO:0086012)	2.55988294
75	ncRNA catabolic process (GO:0034661)	2.55150891
76	prenylation (GO:0097354)	2.54000192
77	protein prenylation (GO:0018342)	2.54000192
78	cilium organization (GO:0044782)	2.53179226
79	protein-cofactor linkage (GO:0018065)	2.52739165
80	pyrimidine nucleobase catabolic process (GO:0006208)	2.49421642
81	sulfation (GO:0051923)	2.48482127
82	dopamine transport (GO:0015872)	2.48144394
83	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	2.46921047
84	neuronal action potential (GO:0019228)	2.46471631
85	cilium assembly (GO:0042384)	2.42532510
86	auditory receptor cell stereocilium organization (GO:0060088)	2.42190122
87	centriole replication (GO:0007099)	2.41436207
88	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	2.41332611
89	C4-dicarboxylate transport (GO:0015740)	2.41165937
90	inositol phosphate catabolic process (GO:0071545)	2.41110897
91	S-adenosylmethionine metabolic process (GO:0046500)	2.40765407
92	establishment of protein localization to Golgi (GO:0072600)	2.40272628
93	quinone biosynthetic process (GO:1901663)	2.40143411
94	phosphatidylinositol acyl-chain remodeling (GO:0036149)	2.40031415
95	reflex (GO:0060004)	2.39634863
96	photoreceptor cell development (GO:0042461)	2.38381094
97	regulation of rhodopsin mediated signaling pathway (GO:0022400)	2.37983462
98	cornea development in camera-type eye (GO:0061303)	2.37540618
99	regulation of telomere maintenance (GO:0032204)	2.37214655
100	anterograde synaptic vesicle transport (GO:0048490)	2.34432679

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	4.06650845
2	VDR_22108803_ChIP-Seq_LS180_Human	3.14737777
3	GBX2_23144817_ChIP-Seq_PC3_Human	2.84147690
4	EZH2_22144423_ChIP-Seq_EOC_Human	2.71149226
5	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.43126404
6	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.40125246
7	IGF1R_20145208_ChIP-Seq_DFB_Human	2.39851139
8	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.38955777
9	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.24992766
10	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.14233484
11	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.12335204
12	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.04637473
13	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.03987420
14	TAF15_26573619_Chip-Seq_HEK293_Human	1.94182362
15	P300_19829295_ChIP-Seq_ESCs_Human	1.93346797
16	FUS_26573619_Chip-Seq_HEK293_Human	1.89547428
17	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.89090464
18	EWS_26573619_Chip-Seq_HEK293_Human	1.88542273
19	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.79680202
20	ER_23166858_ChIP-Seq_MCF-7_Human	1.78662662
21	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.74096762
22	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.68995971
23	TP53_22573176_ChIP-Seq_HFKS_Human	1.68825710
24	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.65757861
25	IRF1_19129219_ChIP-ChIP_H3396_Human	1.64292363
26	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.63845420
27	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.63136275
28	CBP_20019798_ChIP-Seq_JUKART_Human	1.61485104
29	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.61485104
30	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.53042740
31	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.52933528
32	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.51918075
33	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.50237139
34	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.47675893
35	BCAT_22108803_ChIP-Seq_LS180_Human	1.46882732
36	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.46420972
37	REST_21632747_ChIP-Seq_MESCs_Mouse	1.44236633
38	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.42747516
39	STAT3_23295773_ChIP-Seq_U87_Human	1.42107698
40	SOX2_19829295_ChIP-Seq_ESCs_Human	1.41716938
41	NANOG_19829295_ChIP-Seq_ESCs_Human	1.41716938
42	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.41291977
43	AR_25329375_ChIP-Seq_VCAP_Human	1.40310339
44	NCOR_22424771_ChIP-Seq_293T_Human	1.38921391
45	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.38193526
46	TCF4_23295773_ChIP-Seq_U87_Human	1.38153976
47	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.37402766
48	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.37043633
49	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.37043633
50	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.36023172
51	SMAD4_21799915_ChIP-Seq_A2780_Human	1.35005143
52	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.34965655
53	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.32440695
54	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.30312051
55	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.29853102
56	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.29310180
57	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.29310180
58	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.27734920
59	MYC_18940864_ChIP-ChIP_HL60_Human	1.27374398
60	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.26474925
61	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.25437542
62	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.25395591
63	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.25206274
64	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.24328524
65	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.22753155
66	TCF4_22108803_ChIP-Seq_LS180_Human	1.22305901
67	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.21846162
68	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.21794751
69	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.21735529
70	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.20506955
71	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.19803014
72	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.19756282
73	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.18953684
74	HOXB7_26014856_ChIP-Seq_BT474_Human	1.18435544
75	AR_20517297_ChIP-Seq_VCAP_Human	1.17987399
76	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.17405442
77	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.17056847
78	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.16795893
79	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.14518833
80	RUNX2_22187159_ChIP-Seq_PCA_Human	1.12996114
81	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.10956321
82	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.09361722
83	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	1.08902657
84	TAF2_19829295_ChIP-Seq_ESCs_Human	1.08436162
85	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.08240359
86	NANOG_20526341_ChIP-Seq_ESCs_Human	1.06194197
87	MYC_19829295_ChIP-Seq_ESCs_Human	1.05404674
88	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.04324113
89	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.03155042
90	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.02980419
91	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.02752412
92	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	1.02085836
93	VDR_23849224_ChIP-Seq_CD4+_Human	1.01895226
94	RNF2_27304074_Chip-Seq_NSC_Mouse	1.01402553
95	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.00148126
96	ELK1_19687146_ChIP-ChIP_HELA_Human	0.99169231
97	ERA_21632823_ChIP-Seq_H3396_Human	0.98843272
98	REST_18959480_ChIP-ChIP_MESCs_Mouse	0.98836922
99	FOXH1_21741376_ChIP-Seq_EPCs_Human	0.98771337
100	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	0.98225750

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002102_abnormal_ear_morphology	3.34583056
2	MP0002837_dystrophic_cardiac_calcinosis	2.84495270
3	MP0008877_abnormal_DNA_methylation	2.78046909
4	MP0005551_abnormal_eye_electrophysiolog	2.68907573
5	MP0003195_calcinosis	2.52636806
6	MP0001986_abnormal_taste_sensitivity	2.39334691
7	MP0002876_abnormal_thyroid_physiology	2.35595443
8	MP0003646_muscle_fatigue	2.29253149
9	MP0002653_abnormal_ependyma_morphology	2.25571746
10	MP0005645_abnormal_hypothalamus_physiol	2.15710771
11	MP0001968_abnormal_touch/_nociception	2.14121089
12	MP0006072_abnormal_retinal_apoptosis	2.08570050
13	MP0003880_abnormal_central_pattern	1.94464498
14	MP0005253_abnormal_eye_physiology	1.91583459
15	MP0005410_abnormal_fertilization	1.91415832
16	MP0003011_delayed_dark_adaptation	1.91253169
17	MP0003878_abnormal_ear_physiology	1.84441434
18	MP0005377_hearing/vestibular/ear_phenot	1.84441434
19	MP0008872_abnormal_physiological_respon	1.82172772
20	MP0002163_abnormal_gland_morphology	1.81599456
21	MP0003787_abnormal_imprinting	1.78867973
22	MP0001501_abnormal_sleep_pattern	1.78565791
23	MP0009745_abnormal_behavioral_response	1.76855355
24	MP0005646_abnormal_pituitary_gland	1.75207884
25	MP0009046_muscle_twitch	1.74756512
26	MP0008875_abnormal_xenobiotic_pharmacok	1.73366115
27	MP0001485_abnormal_pinna_reflex	1.72438309
28	MP0004142_abnormal_muscle_tone	1.68937014
29	MP0005379_endocrine/exocrine_gland_phen	1.65893456
30	MP0004885_abnormal_endolymph	1.61386357
31	MP0002272_abnormal_nervous_system	1.60566902
32	MP0000427_abnormal_hair_cycle	1.60254021
33	MP0006276_abnormal_autonomic_nervous	1.60094663
34	MP0002638_abnormal_pupillary_reflex	1.58806218
35	MP0006292_abnormal_olfactory_placode	1.55838759
36	MP0003136_yellow_coat_color	1.52852406
37	MP0004043_abnormal_pH_regulation	1.49404070
38	MP0002736_abnormal_nociception_after	1.46436770
39	MP0001486_abnormal_startle_reflex	1.45275057
40	MP0000569_abnormal_digit_pigmentation	1.43868081
41	MP0004145_abnormal_muscle_electrophysio	1.40564942
42	MP0000372_irregular_coat_pigmentation	1.39003287
43	MP0001984_abnormal_olfaction	1.37962193
44	MP0001529_abnormal_vocalization	1.37642214
45	MP0002138_abnormal_hepatobiliary_system	1.35009859
46	MP0004742_abnormal_vestibular_system	1.26495187
47	MP0002733_abnormal_thermal_nociception	1.25693321
48	MP0000631_abnormal_neuroendocrine_gland	1.25529522
49	MP0002160_abnormal_reproductive_system	1.24346816
50	MP0001970_abnormal_pain_threshold	1.23180991
51	MP0002572_abnormal_emotion/affect_behav	1.23057888
52	MP0005389_reproductive_system_phenotype	1.21625266
53	MP0002064_seizures	1.21594357
54	MP0004133_heterotaxia	1.19701350
55	MP0002735_abnormal_chemical_nociception	1.11154126
56	MP0008995_early_reproductive_senescence	1.10451182
57	MP0009764_decreased_sensitivity_to	1.09826730
58	MP0005423_abnormal_somatic_nervous	1.07775154
59	MP0004215_abnormal_myocardial_fiber	1.07085005
60	MP0002095_abnormal_skin_pigmentation	1.06253302
61	MP0002938_white_spotting	1.05074214
62	MP0003698_abnormal_male_reproductive	1.04308916
63	MP0005174_abnormal_tail_pigmentation	1.04195984
64	MP0004084_abnormal_cardiac_muscle	1.02838077
65	MP0001905_abnormal_dopamine_level	1.02693809
66	MP0002557_abnormal_social/conspecific_i	1.02546317
67	MP0005671_abnormal_response_to	1.02210116
68	MP0005386_behavior/neurological_phenoty	1.01679049
69	MP0004924_abnormal_behavior	1.01679049
70	MP0005084_abnormal_gallbladder_morpholo	0.99423849
71	MP0001764_abnormal_homeostasis	0.99303007
72	MP0002234_abnormal_pharynx_morphology	0.97226243
73	MP0003283_abnormal_digestive_organ	0.96996462
74	MP0008775_abnormal_heart_ventricle	0.96990494
75	MP0005195_abnormal_posterior_eye	0.96187525
76	MP0010386_abnormal_urinary_bladder	0.95646081
77	MP0008789_abnormal_olfactory_epithelium	0.93826385
78	MP0002063_abnormal_learning/memory/cond	0.93430421
79	MP0002067_abnormal_sensory_capabilities	0.93369552
80	MP0002229_neurodegeneration	0.92289890
81	MP0005075_abnormal_melanosome_morpholog	0.92169937
82	MP0001963_abnormal_hearing_physiology	0.91822010
83	MP0006054_spinal_hemorrhage	0.91572497
84	MP0001929_abnormal_gametogenesis	0.90362403
85	MP0002693_abnormal_pancreas_physiology	0.90095238
86	MP0003635_abnormal_synaptic_transmissio	0.88218073
87	MP0000015_abnormal_ear_pigmentation	0.86884162
88	MP0002752_abnormal_somatic_nervous	0.82774048
89	MP0004147_increased_porphyrin_level	0.82144256
90	MP0000026_abnormal_inner_ear	0.80950543
91	MP0002734_abnormal_mechanical_nocicepti	0.80144250
92	MP0001919_abnormal_reproductive_system	0.78542430
93	MP0002751_abnormal_autonomic_nervous	0.77916932
94	MP0003122_maternal_imprinting	0.77433586
95	MP0001873_stomach_inflammation	0.73506305
96	MP0002928_abnormal_bile_duct	0.73382655
97	MP0003121_genomic_imprinting	0.72822631
98	MP0001324_abnormal_eye_pigmentation	0.71014370
99	MP0003252_abnormal_bile_duct	0.70937673
100	MP0002184_abnormal_innervation	0.70350910

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Pancreatic cysts (HP:0001737)	4.73910396
2	Pancreatic fibrosis (HP:0100732)	4.10578989
3	Chronic hepatic failure (HP:0100626)	4.05193557
4	True hermaphroditism (HP:0010459)	3.97230721
5	Abnormality of midbrain morphology (HP:0002418)	3.87529549
6	Molar tooth sign on MRI (HP:0002419)	3.87529549
7	Congenital stationary night blindness (HP:0007642)	3.81228608
8	Nephronophthisis (HP:0000090)	3.57797661
9	Abnormality of the renal cortex (HP:0011035)	3.54925442
10	Progressive inability to walk (HP:0002505)	3.33509794
11	Attenuation of retinal blood vessels (HP:0007843)	3.16275479
12	Abnormality of the renal medulla (HP:0100957)	3.16225490
13	Type II lissencephaly (HP:0007260)	3.15134334
14	Inability to walk (HP:0002540)	3.14368066
15	Pendular nystagmus (HP:0012043)	3.00414038
16	Abnormal rod and cone electroretinograms (HP:0008323)	2.93023514
17	Medial flaring of the eyebrow (HP:0010747)	2.90466398
18	Abolished electroretinogram (ERG) (HP:0000550)	2.86807143
19	Cystic liver disease (HP:0006706)	2.84144340
20	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.82924785
21	Absent/shortened dynein arms (HP:0200106)	2.82924785
22	Abnormal drinking behavior (HP:0030082)	2.75492364
23	Polydipsia (HP:0001959)	2.75492364
24	Acute necrotizing encephalopathy (HP:0006965)	2.75374814
25	Tubular atrophy (HP:0000092)	2.72345747
26	Renal cortical cysts (HP:0000803)	2.69736221
27	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.67432410
28	Abnormality of alanine metabolism (HP:0010916)	2.67432410
29	Hyperalaninemia (HP:0003348)	2.67432410
30	Keratoconus (HP:0000563)	2.66475517
31	Increased corneal curvature (HP:0100692)	2.66475517
32	Progressive macrocephaly (HP:0004481)	2.51725796
33	3-Methylglutaconic aciduria (HP:0003535)	2.49588200
34	Acute encephalopathy (HP:0006846)	2.46324141
35	Hyperventilation (HP:0002883)	2.43230529
36	Stomatitis (HP:0010280)	2.41505856
37	Sclerocornea (HP:0000647)	2.33676472
38	Mitochondrial inheritance (HP:0001427)	2.32433489
39	Increased CSF lactate (HP:0002490)	2.31611361
40	Abnormal mitochondria in muscle tissue (HP:0008316)	2.29827706
41	Aplasia/Hypoplasia of the fovea (HP:0008060)	2.29521264
42	Hypoplasia of the fovea (HP:0007750)	2.29521264
43	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.29363243
44	Gait imbalance (HP:0002141)	2.29094070
45	Postaxial foot polydactyly (HP:0001830)	2.28741500
46	Optic disc pallor (HP:0000543)	2.27887191
47	Decreased central vision (HP:0007663)	2.26731057
48	Polyuria (HP:0000103)	2.24269230
49	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.23979866
50	Cerebellar dysplasia (HP:0007033)	2.23798281
51	Congenital primary aphakia (HP:0007707)	2.23241404
52	Anencephaly (HP:0002323)	2.19120332
53	Abnormal respiratory motile cilium morphology (HP:0005938)	2.17299674
54	Abnormal respiratory epithelium morphology (HP:0012253)	2.17299674
55	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.15681537
56	Severe visual impairment (HP:0001141)	2.12694742
57	Abnormality of the pons (HP:0007361)	2.12648576
58	Methylmalonic acidemia (HP:0002912)	2.12633315
59	Congenital hepatic fibrosis (HP:0002612)	2.09607866
60	Large for gestational age (HP:0001520)	2.09459049
61	Bony spicule pigmentary retinopathy (HP:0007737)	2.09438843
62	Gaze-evoked nystagmus (HP:0000640)	2.09343885
63	Lissencephaly (HP:0001339)	2.07351963
64	Bile duct proliferation (HP:0001408)	2.06138124
65	Abnormal biliary tract physiology (HP:0012439)	2.06138124
66	Nephrogenic diabetes insipidus (HP:0009806)	2.05124592
67	Hypoplasia of the pons (HP:0012110)	2.01883845
68	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	1.99746365
69	Hepatocellular necrosis (HP:0001404)	1.99691009
70	Broad-based gait (HP:0002136)	1.97962253
71	Retinal dysplasia (HP:0007973)	1.96903357
72	Aplasia/Hypoplasia of the spleen (HP:0010451)	1.93459149
73	Hepatic necrosis (HP:0002605)	1.91965391
74	Genital tract atresia (HP:0001827)	1.91750143
75	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.91281070
76	Male pseudohermaphroditism (HP:0000037)	1.90963660
77	Postaxial hand polydactyly (HP:0001162)	1.90837230
78	Decreased circulating renin level (HP:0003351)	1.90814508
79	Furrowed tongue (HP:0000221)	1.89032677
80	Vaginal atresia (HP:0000148)	1.86506408
81	Absent speech (HP:0001344)	1.86001311
82	Abnormality of macular pigmentation (HP:0008002)	1.84622032
83	Abnormal ciliary motility (HP:0012262)	1.84572711
84	Colon cancer (HP:0003003)	1.83300363
85	Abnormality of the labia minora (HP:0012880)	1.83128329
86	Abnormality of the fovea (HP:0000493)	1.82916040
87	Disproportionate short-trunk short stature (HP:0003521)	1.82735687
88	Polyphagia (HP:0002591)	1.82680348
89	Optic nerve hypoplasia (HP:0000609)	1.81196510
90	Methylmalonic aciduria (HP:0012120)	1.80817256
91	Abnormal urine output (HP:0012590)	1.80583671
92	Retinitis pigmentosa (HP:0000510)	1.79043616
93	Asplenia (HP:0001746)	1.78900433
94	Severe muscular hypotonia (HP:0006829)	1.78254682
95	Bilateral microphthalmos (HP:0007633)	1.77338250
96	Aplasia/hypoplasia of the uterus (HP:0008684)	1.74951653
97	Constricted visual fields (HP:0001133)	1.74637588
98	Increased serum lactate (HP:0002151)	1.73306845
99	Abnormality of the renal collecting system (HP:0004742)	1.73141104
100	Occipital encephalocele (HP:0002085)	1.73128724

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	5.09152303
2	ADRBK2	3.37326398
3	BMPR1B	2.84981686
4	TXK	2.68066772
5	PINK1	2.67365160
6	ZAK	2.59720966
7	NUAK1	2.53547672
8	INSRR	2.48286938
9	MAP4K2	2.46426842
10	WNK3	2.38016616
11	WNK4	2.36307061
12	GRK1	2.20616388
13	TLK1	1.93518208
14	TAOK3	1.78301584
15	PASK	1.77503373
16	MAP3K4	1.74276738
17	OXSR1	1.68478272
18	CASK	1.58348848
19	TRIM28	1.51881299
20	MAPK13	1.50367986
21	CAMKK2	1.43383161
22	STK39	1.35551529
23	STK38L	1.25846706
24	DYRK2	1.22532793
25	ACVR1B	1.21707650
26	VRK2	1.09122097
27	CSNK1G2	1.06039888
28	CSNK1G3	1.05525426
29	BCKDK	1.04960457
30	TIE1	1.04596846
31	PLK2	1.03142930
32	DAPK2	0.97290219
33	PAK3	0.96891626
34	MAP4K1	0.96668173
35	MUSK	0.95879222
36	CSNK1G1	0.94786578
37	MAP2K7	0.94151771
38	CAMKK1	0.94007315
39	PRKCE	0.93794123
40	BCR	0.90942526
41	ADRBK1	0.88457689
42	MKNK2	0.86265036
43	VRK1	0.85602719
44	PRKCG	0.85187657
45	CSNK1A1L	0.84413556
46	SIK2	0.82929701
47	MARK1	0.82754044
48	BRSK2	0.81427734
49	PHKG2	0.79556995
50	PHKG1	0.79556995
51	ERBB3	0.73265726
52	PTK2B	0.72092073
53	STK3	0.71804390
54	STK11	0.66115339
55	PLK4	0.65984545
56	TGFBR1	0.65347269
57	IKBKB	0.64599035
58	STK16	0.63513545
59	PRKCQ	0.63247473
60	PIK3CA	0.62505852
61	TEC	0.62335253
62	STK38	0.61850228
63	LIMK1	0.61368222
64	EIF2AK3	0.61102259
65	PLK3	0.57792202
66	RPS6KA5	0.57233102
67	TNK2	0.56942399
68	FGFR2	0.56669807
69	TNIK	0.55411656
70	CDK19	0.53110431
71	SYK	0.52903364
72	FER	0.52084935
73	MAP2K6	0.51339434
74	CDK8	0.51070546
75	NME1	0.49400098
76	CAMK2A	0.49107297
77	PRKAA2	0.48528622
78	MAP3K7	0.48521992
79	CAMK1	0.48207126
80	CLK1	0.47059469
81	CSNK1A1	0.46926355
82	MAPKAPK3	0.46631479
83	ITK	0.46554916
84	GRK5	0.46065937
85	EPHA4	0.45713638
86	PRKACA	0.45413700
87	PRKCZ	0.43708179
88	PIK3CG	0.43626515
89	MAPKAPK5	0.43081268
90	MARK3	0.42415671
91	BLK	0.41740394
92	NTRK2	0.40181039
93	NTRK3	0.40120428
94	PRKCA	0.39373776
95	PRKAA1	0.38189138
96	PKN1	0.38152211
97	CSNK1D	0.37541578
98	AKT3	0.36566121
99	MAP3K12	0.35873842
100	LYN	0.35035112

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Phototransduction_Homo sapiens_hsa04744	2.77667277
2	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.55965958
3	Nitrogen metabolism_Homo sapiens_hsa00910	2.38454707
4	Linoleic acid metabolism_Homo sapiens_hsa00591	2.34747632
5	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.33757071
6	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.29252492
7	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.28246132
8	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	2.26528365
9	Oxidative phosphorylation_Homo sapiens_hsa00190	2.25584591
10	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	2.19836772
11	Butanoate metabolism_Homo sapiens_hsa00650	2.12690821
12	Protein export_Homo sapiens_hsa03060	2.07536526
13	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.91864569
14	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.85110585
15	Selenocompound metabolism_Homo sapiens_hsa00450	1.81575015
16	Ether lipid metabolism_Homo sapiens_hsa00565	1.71437967
17	Tryptophan metabolism_Homo sapiens_hsa00380	1.70629159
18	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.67320781
19	Nicotine addiction_Homo sapiens_hsa05033	1.67270522
20	Parkinsons disease_Homo sapiens_hsa05012	1.62302894
21	Regulation of autophagy_Homo sapiens_hsa04140	1.58448783
22	RNA polymerase_Homo sapiens_hsa03020	1.57264073
23	Olfactory transduction_Homo sapiens_hsa04740	1.49712066
24	Asthma_Homo sapiens_hsa05310	1.49151784
25	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.40523512
26	Type I diabetes mellitus_Homo sapiens_hsa04940	1.35454364
27	RNA degradation_Homo sapiens_hsa03018	1.32871396
28	Sulfur metabolism_Homo sapiens_hsa00920	1.31535127
29	Homologous recombination_Homo sapiens_hsa03440	1.30450512
30	Morphine addiction_Homo sapiens_hsa05032	1.29446730
31	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.28345166
32	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.27713220
33	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.27579831
34	Caffeine metabolism_Homo sapiens_hsa00232	1.26639884
35	Taste transduction_Homo sapiens_hsa04742	1.24855767
36	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.24420474
37	Fanconi anemia pathway_Homo sapiens_hsa03460	1.22322313
38	Proteasome_Homo sapiens_hsa03050	1.22097131
39	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.21874679
40	Basal transcription factors_Homo sapiens_hsa03022	1.20199715
41	Propanoate metabolism_Homo sapiens_hsa00640	1.18224110
42	Peroxisome_Homo sapiens_hsa04146	1.15282517
43	Allograft rejection_Homo sapiens_hsa05330	1.10805595
44	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.10607644
45	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.09389001
46	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	1.06043714
47	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.05822949
48	Huntingtons disease_Homo sapiens_hsa05016	1.04749650
49	Insulin secretion_Homo sapiens_hsa04911	1.04437256
50	Graft-versus-host disease_Homo sapiens_hsa05332	1.03192185
51	Chemical carcinogenesis_Homo sapiens_hsa05204	0.98374819
52	Autoimmune thyroid disease_Homo sapiens_hsa05320	0.98124606
53	Cardiac muscle contraction_Homo sapiens_hsa04260	0.97902492
54	Retinol metabolism_Homo sapiens_hsa00830	0.97366979
55	Sulfur relay system_Homo sapiens_hsa04122	0.97365208
56	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.97341052
57	GABAergic synapse_Homo sapiens_hsa04727	0.95828190
58	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.94918869
59	Alzheimers disease_Homo sapiens_hsa05010	0.91042060
60	One carbon pool by folate_Homo sapiens_hsa00670	0.90802285
61	ABC transporters_Homo sapiens_hsa02010	0.89590190
62	Collecting duct acid secretion_Homo sapiens_hsa04966	0.85220066
63	Purine metabolism_Homo sapiens_hsa00230	0.79896244
64	Primary immunodeficiency_Homo sapiens_hsa05340	0.78396778
65	Circadian entrainment_Homo sapiens_hsa04713	0.77366315
66	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.76565126
67	Glutamatergic synapse_Homo sapiens_hsa04724	0.74550657
68	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.74284863
69	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.73006821
70	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.73003346
71	Fat digestion and absorption_Homo sapiens_hsa04975	0.70697710
72	Serotonergic synapse_Homo sapiens_hsa04726	0.69511633
73	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.69367974
74	Steroid biosynthesis_Homo sapiens_hsa00100	0.68819336
75	Metabolic pathways_Homo sapiens_hsa01100	0.65901434
76	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.65763298
77	Glycerolipid metabolism_Homo sapiens_hsa00561	0.65478314
78	Rheumatoid arthritis_Homo sapiens_hsa05323	0.65095511
79	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.64852016
80	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.62619535
81	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.62059904
82	Pyrimidine metabolism_Homo sapiens_hsa00240	0.61554679
83	beta-Alanine metabolism_Homo sapiens_hsa00410	0.57957145
84	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.57253635
85	Salivary secretion_Homo sapiens_hsa04970	0.56912582
86	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.56407234
87	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.53145770
88	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.50405487
89	Calcium signaling pathway_Homo sapiens_hsa04020	0.45155995
90	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.43300828
91	Sphingolipid metabolism_Homo sapiens_hsa00600	0.41525242
92	Fatty acid elongation_Homo sapiens_hsa00062	0.41275824
93	Dopaminergic synapse_Homo sapiens_hsa04728	0.41177157
94	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.38350990
95	Mineral absorption_Homo sapiens_hsa04978	0.37649322
96	Circadian rhythm_Homo sapiens_hsa04710	0.37057825
97	Fatty acid degradation_Homo sapiens_hsa00071	0.35203251
98	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.34568587
99	Cyanoamino acid metabolism_Homo sapiens_hsa00460	0.33356632
100	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.32369659

TISP43

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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