ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	5.79435825
2	protein neddylation (GO:0045116)	5.69006049
3	protein complex biogenesis (GO:0070271)	5.41374919
4	ATP synthesis coupled proton transport (GO:0015986)	5.36894792
5	energy coupled proton transport, down electrochemical gradient (GO:0015985)	5.36894792
6	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	5.26416812
7	mitochondrial respiratory chain complex assembly (GO:0033108)	4.89645246
8	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	4.76843872
9	mitochondrial respiratory chain complex I assembly (GO:0032981)	4.76843872
10	NADH dehydrogenase complex assembly (GO:0010257)	4.76843872
11	respiratory electron transport chain (GO:0022904)	4.74179292
12	electron transport chain (GO:0022900)	4.69811764
13	establishment of protein localization to mitochondrial membrane (GO:0090151)	4.40752205
14	deoxyribonucleoside monophosphate metabolic process (GO:0009162)	4.29970113
15	pyrimidine deoxyribonucleotide catabolic process (GO:0009223)	4.18290782
16	cytochrome complex assembly (GO:0017004)	4.09157636
17	respiratory chain complex IV assembly (GO:0008535)	4.08638395
18	chaperone-mediated protein transport (GO:0072321)	4.05268316
19	rRNA modification (GO:0000154)	3.95777094
20	ribosomal small subunit assembly (GO:0000028)	3.85121581
21	sequestering of actin monomers (GO:0042989)	3.84153826
22	epithelial cilium movement (GO:0003351)	3.71263423
23	pyrimidine nucleotide catabolic process (GO:0006244)	3.65758351
24	DNA deamination (GO:0045006)	3.61226255
25	viral transcription (GO:0019083)	3.59627012
26	axoneme assembly (GO:0035082)	3.56424103
27	rRNA methylation (GO:0031167)	3.54855198
28	regulation of cilium movement (GO:0003352)	3.54451146
29	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	3.53939765
30	translational termination (GO:0006415)	3.49064896
31	regulation of mitochondrial translation (GO:0070129)	3.45756782
32	platelet dense granule organization (GO:0060155)	3.44379805
33	hydrogen ion transmembrane transport (GO:1902600)	3.40807310
34	SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	3.32906714
35	cotranslational protein targeting to membrane (GO:0006613)	3.29599801
36	pyrimidine deoxyribonucleotide metabolic process (GO:0009219)	3.27190976
37	protein targeting to ER (GO:0045047)	3.26437557
38	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	3.25327804
39	transcription elongation from RNA polymerase III promoter (GO:0006385)	3.22015126
40	termination of RNA polymerase III transcription (GO:0006386)	3.22015126
41	sperm motility (GO:0030317)	3.19120636
42	protein localization to endoplasmic reticulum (GO:0070972)	3.18325867
43	establishment of protein localization to endoplasmic reticulum (GO:0072599)	3.15106487
44	ribosomal small subunit biogenesis (GO:0042274)	3.14205902
45	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	3.12784902
46	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	3.12784902
47	deoxyribonucleotide catabolic process (GO:0009264)	3.12155088
48	proton transport (GO:0015992)	3.12018705
49	ATP biosynthetic process (GO:0006754)	3.11005822
50	preassembly of GPI anchor in ER membrane (GO:0016254)	3.10449150
51	GPI anchor metabolic process (GO:0006505)	3.06404037
52	purine-containing compound salvage (GO:0043101)	3.06227097
53	hydrogen transport (GO:0006818)	3.05716346
54	mannosylation (GO:0097502)	3.05140260
55	translational elongation (GO:0006414)	3.04642315
56	purine nucleoside triphosphate biosynthetic process (GO:0009145)	3.03222317
57	cilium movement (GO:0003341)	3.02110855
58	purine ribonucleoside triphosphate biosynthetic process (GO:0009206)	3.01871107
59	protein-cofactor linkage (GO:0018065)	3.01243126
60	centriole replication (GO:0007099)	2.98912040
61	estrogen biosynthetic process (GO:0006703)	2.98489681
62	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	2.98021842
63	water-soluble vitamin biosynthetic process (GO:0042364)	2.97753066
64	metallo-sulfur cluster assembly (GO:0031163)	2.97515536
65	iron-sulfur cluster assembly (GO:0016226)	2.97515536
66	GPI anchor biosynthetic process (GO:0006506)	2.96679454
67	base-excision repair, AP site formation (GO:0006285)	2.94789180
68	deoxyribose phosphate catabolic process (GO:0046386)	2.89209402
69	C-terminal protein lipidation (GO:0006501)	2.89179501
70	protein targeting to mitochondrion (GO:0006626)	2.85415925
71	intracellular protein transmembrane import (GO:0044743)	2.83665047
72	DNA double-strand break processing (GO:0000729)	2.75446103
73	establishment of protein localization to mitochondrion (GO:0072655)	2.74474242
74	ubiquinone biosynthetic process (GO:0006744)	2.73313713
75	GTP biosynthetic process (GO:0006183)	2.72944511
76	protein polyglutamylation (GO:0018095)	2.72754493
77	ubiquinone metabolic process (GO:0006743)	2.71042125
78	deoxyribonucleoside triphosphate metabolic process (GO:0009200)	2.70903459
79	peptidyl-histidine modification (GO:0018202)	2.68572003
80	cellular ketone body metabolic process (GO:0046950)	2.68180874
81	response to pheromone (GO:0019236)	2.68031150
82	viral life cycle (GO:0019058)	2.67110303
83	dopamine transport (GO:0015872)	2.65882576
84	cellular protein complex disassembly (GO:0043624)	2.63054802
85	translation (GO:0006412)	2.61894417
86	intraciliary transport (GO:0042073)	2.61044240
87	2-deoxyribonucleotide metabolic process (GO:0009394)	2.61011181
88	protein localization to mitochondrion (GO:0070585)	2.57952753
89	inner mitochondrial membrane organization (GO:0007007)	2.54783027
90	axonemal dynein complex assembly (GO:0070286)	2.54734294
91	cellular component biogenesis (GO:0044085)	2.54314097
92	behavioral response to nicotine (GO:0035095)	2.52588984
93	deoxyribose phosphate metabolic process (GO:0019692)	2.49442258
94	maturation of SSU-rRNA (GO:0030490)	2.48878841
95	fusion of sperm to egg plasma membrane (GO:0007342)	2.48322910
96	chromatin remodeling at centromere (GO:0031055)	2.47031298
97	negative regulation of telomere maintenance (GO:0032205)	2.46006900
98	ribonucleoside triphosphate biosynthetic process (GO:0009201)	2.45909903
99	negative regulation of response to food (GO:0032096)	2.45480651
100	negative regulation of appetite (GO:0032099)	2.45480651

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	GABP_17652178_ChIP-ChIP_JURKAT_Human	4.02618581
2	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	3.88036657
3	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	3.84942878
4	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	3.68029439
5	EST1_17652178_ChIP-ChIP_JURKAT_Human	3.40492218
6	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	3.19125175
7	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	2.79081904
8	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.77179357
9	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	2.68488285
10	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.66853587
11	VDR_23849224_ChIP-Seq_CD4+_Human	2.60976623
12	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.57540568
13	ZNF274_21170338_ChIP-Seq_K562_Hela	2.34531560
14	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.30062628
15	SRF_21415370_ChIP-Seq_HL-1_Mouse	2.19554302
16	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	2.10758006
17	FOXP3_21729870_ChIP-Seq_TREG_Human	2.10756803
18	ELK1_19687146_ChIP-ChIP_HELA_Human	2.10695622
19	ELF1_17652178_ChIP-ChIP_JURKAT_Human	2.08861944
20	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.97568429
21	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.90833383
22	MYC_18940864_ChIP-ChIP_HL60_Human	1.77973419
23	IGF1R_20145208_ChIP-Seq_DFB_Human	1.77917194
24	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.76779802
25	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	1.71198618
26	VDR_22108803_ChIP-Seq_LS180_Human	1.67753114
27	EWS_26573619_Chip-Seq_HEK293_Human	1.65519371
28	FUS_26573619_Chip-Seq_HEK293_Human	1.54755432
29	TP53_22573176_ChIP-Seq_HFKS_Human	1.52406815
30	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.48213207
31	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.45019805
32	FLI1_20887958_ChIP-Seq_HPC-7_Mouse	1.42758461
33	HOXB4_20404135_ChIP-ChIP_EML_Mouse	1.42153647
34	CEBPB_24764292_ChIP-Seq_MC3T3_Mouse	1.39695194
35	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.36261146
36	MYC_18555785_ChIP-Seq_MESCs_Mouse	1.35920762
37	HTT_18923047_ChIP-ChIP_STHdh_Human	1.34889372
38	EZH2_22144423_ChIP-Seq_EOC_Human	1.32195037
39	GABP_19822575_ChIP-Seq_HepG2_Human	1.30927352
40	TAF15_26573619_Chip-Seq_HEK293_Human	1.30308344
41	IRF1_19129219_ChIP-ChIP_H3396_Human	1.29872597
42	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.29589759
43	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.29589759
44	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.28310679
45	IRF8_22096565_ChIP-ChIP_GC-B_Mouse	1.26549172
46	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.25818103
47	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	1.24307530
48	IRF8_22096565_ChIP-ChIP_GC-B_Human	1.24142302
49	IRF8_21731497_ChIP-ChIP_J774_Mouse	1.23583365
50	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.23236264
51	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.23207544
52	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.22977646
53	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.22762434
54	AR_20517297_ChIP-Seq_VCAP_Human	1.22043300
55	NANOG_20526341_ChIP-Seq_ESCs_Human	1.21830991
56	P300_19829295_ChIP-Seq_ESCs_Human	1.21251865
57	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.19052446
58	TTF2_22483619_ChIP-Seq_HELA_Human	1.18001545
59	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.17917419
60	SOX2_19829295_ChIP-Seq_ESCs_Human	1.15895731
61	NANOG_19829295_ChIP-Seq_ESCs_Human	1.15895731
62	NCOR_22424771_ChIP-Seq_293T_Human	1.15851308
63	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	1.15740707
64	ERG_20517297_ChIP-Seq_VCAP_Human	1.15007120
65	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.14925855
66	ER_23166858_ChIP-Seq_MCF-7_Human	1.14560760
67	DCP1A_22483619_ChIP-Seq_HELA_Human	1.12011492
68	SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse	1.11501977
69	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.11134761
70	CBP_20019798_ChIP-Seq_JUKART_Human	1.11134761
71	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.10423446
72	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.07175276
73	PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse	1.06276762
74	GBX2_23144817_ChIP-Seq_PC3_Human	1.06242901
75	RBPJ_21746931_ChIP-Seq_IB4-LCL_Human	1.05268787
76	MYC_19829295_ChIP-Seq_ESCs_Human	1.05090449
77	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	1.04408518
78	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.04259192
79	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.04030789
80	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.01139109
81	FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	1.01009774
82	E2F1_18555785_ChIP-Seq_MESCs_Mouse	1.00739992
83	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.00045105
84	ERA_21632823_ChIP-Seq_H3396_Human	0.98845271
85	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	0.98008636
86	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	0.98007090
87	TAL1_20887958_ChIP-Seq_HPC-7_Mouse	0.97512057
88	EGR1_23403033_ChIP-Seq_LIVER_Mouse	0.96003835
89	TAF2_19829295_ChIP-Seq_ESCs_Human	0.92664233
90	SPI1_22096565_ChIP-ChIP_GC-B_Mouse	0.92245717
91	GATA3_26560356_Chip-Seq_TH2_Human	0.92118250
92	FOXA1_21572438_ChIP-Seq_LNCaP_Human	0.92095769
93	AUTS2_25519132_ChIP-Seq_293T-REX_Human	0.90306332
94	E2F4_17652178_ChIP-ChIP_JURKAT_Human	0.90038302
95	P300_27268052_Chip-Seq_Bcells_Human	0.89066709
96	NOTCH1_21737748_ChIP-Seq_TLL_Human	0.88213440
97	FOXH1_21741376_ChIP-Seq_EPCs_Human	0.87690846
98	XRN2_22483619_ChIP-Seq_HELA_Human	0.86500643
99	ZFP57_27257070_Chip-Seq_ESCs_Mouse	0.86439317
100	MYC_19030024_ChIP-ChIP_MESCs_Mouse	0.86128209

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0008877_abnormal_DNA_methylation	2.80558423
2	MP0006292_abnormal_olfactory_placode	2.79628347
3	MP0005410_abnormal_fertilization	2.64782934
4	MP0003787_abnormal_imprinting	2.59488277
5	MP0006072_abnormal_retinal_apoptosis	2.53397733
6	MP0009379_abnormal_foot_pigmentation	2.37872224
7	MP0002837_dystrophic_cardiac_calcinosis	2.30849656
8	MP0005646_abnormal_pituitary_gland	2.30061148
9	MP0005084_abnormal_gallbladder_morpholo	2.27999094
10	MP0002638_abnormal_pupillary_reflex	2.26896792
11	MP0006036_abnormal_mitochondrial_physio	2.21240367
12	MP0005645_abnormal_hypothalamus_physiol	2.18155401
13	MP0003011_delayed_dark_adaptation	2.16352867
14	MP0003806_abnormal_nucleotide_metabolis	2.12006908
15	MP0000372_irregular_coat_pigmentation	1.98897732
16	MP0008789_abnormal_olfactory_epithelium	1.95356850
17	MP0005253_abnormal_eye_physiology	1.83952337
18	MP0003122_maternal_imprinting	1.81671450
19	MP0003186_abnormal_redox_activity	1.81163098
20	MP0005551_abnormal_eye_electrophysiolog	1.80230545
21	MP0002163_abnormal_gland_morphology	1.78783026
22	MP0001984_abnormal_olfaction	1.77618535
23	MP0001905_abnormal_dopamine_level	1.70232808
24	MP0005379_endocrine/exocrine_gland_phen	1.69769975
25	MP0002653_abnormal_ependyma_morphology	1.67661772
26	MP0003195_calcinosis	1.67248901
27	MP0001986_abnormal_taste_sensitivity	1.66837658
28	MP0008058_abnormal_DNA_repair	1.65822681
29	MP0004142_abnormal_muscle_tone	1.65154481
30	MP0001968_abnormal_touch/_nociception	1.64636324
31	MP0006276_abnormal_autonomic_nervous	1.64501644
32	MP0001529_abnormal_vocalization	1.62390001
33	MP0002132_abnormal_respiratory_system	1.62124265
34	MP0005394_taste/olfaction_phenotype	1.61178111
35	MP0005499_abnormal_olfactory_system	1.61178111
36	MP0008995_early_reproductive_senescence	1.57114899
37	MP0001764_abnormal_homeostasis	1.56953890
38	MP0002736_abnormal_nociception_after	1.56600788
39	MP0005075_abnormal_melanosome_morpholog	1.53432122
40	MP0002102_abnormal_ear_morphology	1.53185445
41	MP0005464_abnormal_platelet_physiology	1.51812810
42	MP0003121_genomic_imprinting	1.48070218
43	MP0002277_abnormal_respiratory_mucosa	1.40812956
44	MP0009046_muscle_twitch	1.39963557
45	MP0002160_abnormal_reproductive_system	1.36240414
46	MP0001485_abnormal_pinna_reflex	1.35617063
47	MP0006035_abnormal_mitochondrial_morpho	1.33988499
48	MP0008872_abnormal_physiological_respon	1.33216197
49	MP0000631_abnormal_neuroendocrine_gland	1.31885868
50	MP0010386_abnormal_urinary_bladder	1.30757789
51	MP0002876_abnormal_thyroid_physiology	1.29628000
52	MP0005671_abnormal_response_to	1.27384973
53	MP0001929_abnormal_gametogenesis	1.27360321
54	MP0003698_abnormal_male_reproductive	1.23505571
55	MP0003718_maternal_effect	1.21492703
56	MP0008875_abnormal_xenobiotic_pharmacok	1.18257058
57	MP0005389_reproductive_system_phenotype	1.17553446
58	MP0003786_premature_aging	1.15726783
59	MP0005332_abnormal_amino_acid	1.14647959
60	MP0002272_abnormal_nervous_system	1.14179788
61	MP0000230_abnormal_systemic_arterial	1.13132377
62	MP0002693_abnormal_pancreas_physiology	1.12862618
63	MP0004147_increased_porphyrin_level	1.12607614
64	MP0003646_muscle_fatigue	1.07078741
65	MP0002938_white_spotting	1.04363444
66	MP0002928_abnormal_bile_duct	1.02341622
67	MP0009697_abnormal_copulation	1.00984269
68	MP0001188_hyperpigmentation	1.00324002
69	MP0009745_abnormal_behavioral_response	0.96637019
70	MP0002210_abnormal_sex_determination	0.94089348
71	MP0003136_yellow_coat_color	0.93126395
72	MP0008004_abnormal_stomach_pH	0.92804474
73	MP0005636_abnormal_mineral_homeostasis	0.92057470
74	MP0003724_increased_susceptibility_to	0.91968836
75	MP0001970_abnormal_pain_threshold	0.91227655
76	MP0000653_abnormal_sex_gland	0.90098948
77	MP0001835_abnormal_antigen_presentation	0.89148821
78	MP0001919_abnormal_reproductive_system	0.87210879
79	MP0002733_abnormal_thermal_nociception	0.86402149
80	MP0003880_abnormal_central_pattern	0.86356895
81	MP0001145_abnormal_male_reproductive	0.84249774
82	MP0001756_abnormal_urination	0.80805492
83	MP0004742_abnormal_vestibular_system	0.80402371
84	MP0005220_abnormal_exocrine_pancreas	0.80222798
85	MP0005174_abnormal_tail_pigmentation	0.79305260
86	MP0002557_abnormal_social/conspecific_i	0.78466755
87	MP0002735_abnormal_chemical_nociception	0.78238949
88	MP0002822_catalepsy	0.76062393
89	MP0002095_abnormal_skin_pigmentation	0.75390313
90	MP0001293_anophthalmia	0.75362008
91	MP0004133_heterotaxia	0.74957928
92	MP0002234_abnormal_pharynx_morphology	0.73588354
93	MP0005535_abnormal_body_temperature	0.73351303
94	MP0002148_abnormal_hypersensitivity_rea	0.71996321
95	MP0003638_abnormal_response/metabolism_	0.71914420
96	MP0009764_decreased_sensitivity_to	0.69087263
97	MP0001944_abnormal_pancreas_morphology	0.68342120
98	MP0001963_abnormal_hearing_physiology	0.66587205
99	MP0002229_neurodegeneration	0.66580921
100	MP0002572_abnormal_emotion/affect_behav	0.66110448

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Acute necrotizing encephalopathy (HP:0006965)	4.97876710
2	Mitochondrial inheritance (HP:0001427)	4.79263887
3	Abnormal mitochondria in muscle tissue (HP:0008316)	4.58597169
4	Acute encephalopathy (HP:0006846)	4.31151937
5	Progressive macrocephaly (HP:0004481)	4.27312648
6	Increased hepatocellular lipid droplets (HP:0006565)	4.25324800
7	Lipid accumulation in hepatocytes (HP:0006561)	4.20515559
8	Hepatocellular necrosis (HP:0001404)	4.18056764
9	Increased CSF lactate (HP:0002490)	4.13248013
10	Renal Fanconi syndrome (HP:0001994)	4.10460226
11	Hepatic necrosis (HP:0002605)	3.95671224
12	3-Methylglutaconic aciduria (HP:0003535)	3.74665933
13	Increased intramyocellular lipid droplets (HP:0012240)	3.53743296
14	Increased muscle lipid content (HP:0009058)	3.17786025
15	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	3.17024297
16	Decreased activity of mitochondrial respiratory chain (HP:0008972)	3.17024297
17	Cerebral edema (HP:0002181)	3.13327696
18	Pancreatic cysts (HP:0001737)	3.12983813
19	Exertional dyspnea (HP:0002875)	3.08558587
20	Abnormal number of erythroid precursors (HP:0012131)	2.94393394
21	Pancreatic fibrosis (HP:0100732)	2.92893002
22	Molar tooth sign on MRI (HP:0002419)	2.92806841
23	Abnormality of midbrain morphology (HP:0002418)	2.92806841
24	Medial flaring of the eyebrow (HP:0010747)	2.90409607
25	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	2.87056868
26	Abnormality of renal resorption (HP:0011038)	2.86186676
27	True hermaphroditism (HP:0010459)	2.79985551
28	Abnormality of cells of the erythroid lineage (HP:0012130)	2.75455993
29	Congenital stationary night blindness (HP:0007642)	2.73987398
30	Lactic acidosis (HP:0003128)	2.69469455
31	Increased serum lactate (HP:0002151)	2.66400883
32	Optic disc pallor (HP:0000543)	2.62027478
33	Abnormal rod and cone electroretinograms (HP:0008323)	2.59533112
34	Nephronophthisis (HP:0000090)	2.57388541
35	Hyperglycinemia (HP:0002154)	2.53423936
36	Respiratory failure (HP:0002878)	2.53390000
37	Abnormal ciliary motility (HP:0012262)	2.50605528
38	Glycosuria (HP:0003076)	2.50229227
39	Abnormality of urine glucose concentration (HP:0011016)	2.50229227
40	Decreased central vision (HP:0007663)	2.47051409
41	Muscle abnormality related to mitochondrial dysfunction (HP:0003800)	2.45275974
42	Exercise intolerance (HP:0003546)	2.44596799
43	Attenuation of retinal blood vessels (HP:0007843)	2.43095049
44	Abnormal respiratory motile cilium physiology (HP:0012261)	2.31501216
45	Abnormal respiratory motile cilium morphology (HP:0005938)	2.29538909
46	Abnormal respiratory epithelium morphology (HP:0012253)	2.29538909
47	Absent/shortened dynein arms (HP:0200106)	2.29265108
48	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.29265108
49	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.25301926
50	Generalized aminoaciduria (HP:0002909)	2.24531675
51	Congenital primary aphakia (HP:0007707)	2.17963607
52	Lethargy (HP:0001254)	2.17868328
53	Hypothermia (HP:0002045)	2.17288637
54	Reticulocytopenia (HP:0001896)	2.14912869
55	Aplastic anemia (HP:0001915)	2.14389357
56	Gait imbalance (HP:0002141)	2.12798215
57	Nephrogenic diabetes insipidus (HP:0009806)	2.08199949
58	Stomatitis (HP:0010280)	2.07239983
59	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	2.06439660
60	Macrocytic anemia (HP:0001972)	2.06220217
61	Male pseudohermaphroditism (HP:0000037)	2.05404580
62	Respiratory difficulties (HP:0002880)	2.05149715
63	Methylmalonic acidemia (HP:0002912)	2.04899799
64	Petechiae (HP:0000967)	2.04607984
65	Chronic hepatic failure (HP:0100626)	2.03793545
66	Sclerocornea (HP:0000647)	2.02674498
67	Colon cancer (HP:0003003)	2.02494122
68	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.01041830
69	Abnormality of the renal medulla (HP:0100957)	2.00610155
70	Abnormal protein glycosylation (HP:0012346)	2.00343525
71	Abnormal glycosylation (HP:0012345)	2.00343525
72	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	2.00343525
73	Abnormal protein N-linked glycosylation (HP:0012347)	2.00343525
74	Hyperphosphaturia (HP:0003109)	1.99812589
75	Leukodystrophy (HP:0002415)	1.99003045
76	Abolished electroretinogram (ERG) (HP:0000550)	1.97361275
77	Methylmalonic aciduria (HP:0012120)	1.95131605
78	Dicarboxylic aciduria (HP:0003215)	1.92081921
79	Abnormality of dicarboxylic acid metabolism (HP:0010995)	1.92081921
80	Type I transferrin isoform profile (HP:0003642)	1.92074559
81	Aplasia/hypoplasia of the uterus (HP:0008684)	1.90695812
82	Absent thumb (HP:0009777)	1.86145370
83	Abnormality of the heme biosynthetic pathway (HP:0010472)	1.84029838
84	Prolonged bleeding time (HP:0003010)	1.83491594
85	Pancytopenia (HP:0001876)	1.82731615
86	Bile duct proliferation (HP:0001408)	1.82030608
87	Abnormal biliary tract physiology (HP:0012439)	1.82030608
88	Polyphagia (HP:0002591)	1.78973389
89	Abnormal pupillary function (HP:0007686)	1.77035409
90	Abnormality of the renal cortex (HP:0011035)	1.76337666
91	CNS demyelination (HP:0007305)	1.75726747
92	Ketosis (HP:0001946)	1.75128788
93	Congenital, generalized hypertrichosis (HP:0004540)	1.74309020
94	Cystic liver disease (HP:0006706)	1.73361917
95	Bony spicule pigmentary retinopathy (HP:0007737)	1.73192768
96	Type II lissencephaly (HP:0007260)	1.72773769
97	Abnormality of the labia minora (HP:0012880)	1.71617480
98	Renal cortical cysts (HP:0000803)	1.71468441
99	Optic nerve hypoplasia (HP:0000609)	1.70854191
100	Abnormal drinking behavior (HP:0030082)	1.69155342

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	VRK2	4.01592912
2	ZAK	2.97455683
3	FRK	2.86923446
4	MAP4K2	2.74024680
5	STK16	2.63238163
6	NUAK1	2.62620617
7	VRK1	2.46432775
8	TESK2	2.42758754
9	PINK1	2.37601320
10	MST4	2.31235856
11	TLK1	2.22520920
12	TAOK3	2.03664241
13	BMPR1B	2.03591677
14	BCKDK	2.00189359
15	WNK3	1.96332203
16	ADRBK2	1.92644517
17	MUSK	1.84238943
18	GRK1	1.80878299
19	PLK4	1.76890135
20	DYRK2	1.76724735
21	MAP2K7	1.61803839
22	WNK4	1.46098957
23	CSNK1G3	1.34277970
24	CSNK1G1	1.27240510
25	CDK19	1.24847929
26	TEC	1.23912332
27	CSNK1G2	1.16446076
28	MARK3	1.13623553
29	TNK2	1.12422149
30	TXK	1.11114749
31	RPS6KA5	1.06462567
32	MAP3K11	1.05452820
33	INSRR	1.05399803
34	MAP3K4	1.05311622
35	KDR	0.98360189
36	IKBKB	0.98315037
37	DYRK3	0.96526730
38	TAF1	0.96360572
39	MAPK13	0.92819913
40	PLK2	0.91584214
41	MAP3K12	0.91376478
42	MAP4K1	0.88160330
43	EIF2AK1	0.87188036
44	TRIM28	0.83526564
45	BTK	0.81754883
46	PIK3CG	0.79655551
47	NME2	0.78872179
48	ACVR1B	0.78695176
49	SYK	0.77595775
50	PLK3	0.73855285
51	MAPKAPK3	0.73233944
52	MYLK	0.70118666
53	PIM2	0.70083254
54	BRSK2	0.68841587
55	ITK	0.67641486
56	PRKCQ	0.67338325
57	PTK2B	0.66854460
58	CDC7	0.65552376
59	BUB1	0.64933780
60	TIE1	0.61736462
61	GRK6	0.58749000
62	CSNK1A1L	0.58318108
63	PRKCG	0.57760840
64	ADRBK1	0.57157372
65	DAPK3	0.56196115
66	STK39	0.55664316
67	IKBKE	0.55602344
68	NLK	0.55262913
69	CDK3	0.54407445
70	EIF2AK3	0.54116361
71	CASK	0.53004186
72	OBSCN	0.52709484
73	DAPK2	0.52277987
74	PASK	0.51879920
75	DAPK1	0.51859241
76	GRK5	0.51493612
77	LYN	0.51392393
78	PRKCE	0.49928788
79	PLK1	0.49480176
80	AURKA	0.48633095
81	NME1	0.48616404
82	CCNB1	0.48122856
83	TNIK	0.46368984
84	CSNK1A1	0.43875103
85	MAP2K6	0.43743535
86	CSNK2A2	0.43495148
87	PKN1	0.41103342
88	KIT	0.41017761
89	CSNK2A1	0.40963213
90	PRKACA	0.40408780
91	CAMKK2	0.40208479
92	PAK1	0.40018258
93	RPS6KA4	0.39720342
94	AURKB	0.39122182
95	CSF1R	0.38822154
96	MAPKAPK5	0.37278283
97	ABL2	0.36314845
98	CAMK1	0.36245978
99	PRKG1	0.32577130
100	ARAF	0.32512187

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Oxidative phosphorylation_Homo sapiens_hsa00190	4.74319817
2	Parkinsons disease_Homo sapiens_hsa05012	4.04689139
3	Ribosome_Homo sapiens_hsa03010	3.72061064
4	Proteasome_Homo sapiens_hsa03050	2.75712655
5	Huntingtons disease_Homo sapiens_hsa05016	2.70552489
6	Alzheimers disease_Homo sapiens_hsa05010	2.55841873
7	Protein export_Homo sapiens_hsa03060	2.55099444
8	RNA polymerase_Homo sapiens_hsa03020	2.47416716
9	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.44264304
10	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	2.33918306
11	Phototransduction_Homo sapiens_hsa04744	2.09289899
12	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.00916607
13	Mismatch repair_Homo sapiens_hsa03430	1.98029520
14	Homologous recombination_Homo sapiens_hsa03440	1.97102942
15	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.90357782
16	Cardiac muscle contraction_Homo sapiens_hsa04260	1.87252416
17	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.65131757
18	Fanconi anemia pathway_Homo sapiens_hsa03460	1.47811987
19	Butanoate metabolism_Homo sapiens_hsa00650	1.46407433
20	Nitrogen metabolism_Homo sapiens_hsa00910	1.41085503
21	Pyrimidine metabolism_Homo sapiens_hsa00240	1.39712363
22	DNA replication_Homo sapiens_hsa03030	1.37869207
23	Fatty acid elongation_Homo sapiens_hsa00062	1.37480590
24	Glutathione metabolism_Homo sapiens_hsa00480	1.36894852
25	Type I diabetes mellitus_Homo sapiens_hsa04940	1.32704385
26	Peroxisome_Homo sapiens_hsa04146	1.28661384
27	Base excision repair_Homo sapiens_hsa03410	1.27015027
28	Basal transcription factors_Homo sapiens_hsa03022	1.23929516
29	Purine metabolism_Homo sapiens_hsa00230	1.22758302
30	Primary immunodeficiency_Homo sapiens_hsa05340	1.22359243
31	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	1.20838956
32	Propanoate metabolism_Homo sapiens_hsa00640	1.19271188
33	Asthma_Homo sapiens_hsa05310	1.17536048
34	One carbon pool by folate_Homo sapiens_hsa00670	1.17390176
35	Collecting duct acid secretion_Homo sapiens_hsa04966	1.16170357
36	Nucleotide excision repair_Homo sapiens_hsa03420	1.16160873
37	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	1.15264387
38	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.13699834
39	Regulation of autophagy_Homo sapiens_hsa04140	1.13075546
40	Graft-versus-host disease_Homo sapiens_hsa05332	1.10593211
41	Folate biosynthesis_Homo sapiens_hsa00790	1.09961829
42	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	1.09774782
43	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.08590153
44	Allograft rejection_Homo sapiens_hsa05330	1.08455301
45	RNA degradation_Homo sapiens_hsa03018	1.07748585
46	Autoimmune thyroid disease_Homo sapiens_hsa05320	1.02862616
47	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.96988177
48	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.96453206
49	Olfactory transduction_Homo sapiens_hsa04740	0.94842308
50	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.94572807
51	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.93074038
52	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.90285116
53	Linoleic acid metabolism_Homo sapiens_hsa00591	0.89379904
54	Chemical carcinogenesis_Homo sapiens_hsa05204	0.89209200
55	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.87271374
56	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.87030782
57	Metabolic pathways_Homo sapiens_hsa01100	0.86216823
58	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.86141661
59	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.85786032
60	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.79320894
61	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.75634806
62	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.73870543
63	Spliceosome_Homo sapiens_hsa03040	0.73121042
64	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.68615542
65	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.61434145
66	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.60939196
67	Tryptophan metabolism_Homo sapiens_hsa00380	0.59340244
68	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.58969755
69	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.58243259
70	Sulfur relay system_Homo sapiens_hsa04122	0.57225039
71	Sulfur metabolism_Homo sapiens_hsa00920	0.56766653
72	Rheumatoid arthritis_Homo sapiens_hsa05323	0.55844776
73	Alcoholism_Homo sapiens_hsa05034	0.54933702
74	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.54574038
75	Fatty acid degradation_Homo sapiens_hsa00071	0.54554745
76	Fatty acid metabolism_Homo sapiens_hsa01212	0.53541855
77	Non-homologous end-joining_Homo sapiens_hsa03450	0.51897213
78	Antigen processing and presentation_Homo sapiens_hsa04612	0.48971613
79	Hematopoietic cell lineage_Homo sapiens_hsa04640	0.48501286
80	Taste transduction_Homo sapiens_hsa04742	0.48484865
81	Retinol metabolism_Homo sapiens_hsa00830	0.48207149
82	Ether lipid metabolism_Homo sapiens_hsa00565	0.47060006
83	beta-Alanine metabolism_Homo sapiens_hsa00410	0.43711339
84	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.42656786
85	RNA transport_Homo sapiens_hsa03013	0.42527584
86	Serotonergic synapse_Homo sapiens_hsa04726	0.41358667
87	Nicotine addiction_Homo sapiens_hsa05033	0.40569448
88	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.37777120
89	Morphine addiction_Homo sapiens_hsa05032	0.32593977
90	Selenocompound metabolism_Homo sapiens_hsa00450	0.31923975
91	GABAergic synapse_Homo sapiens_hsa04727	0.31775827
92	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.29761356
93	Pyruvate metabolism_Homo sapiens_hsa00620	0.27353737
94	Caffeine metabolism_Homo sapiens_hsa00232	0.25428453
95	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.23927826
96	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.23277259
97	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.22174319
98	Tyrosine metabolism_Homo sapiens_hsa00350	0.19753851
99	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.19663842
100	Steroid biosynthesis_Homo sapiens_hsa00100	0.19190430

TOPORS-AS1

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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