ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	5.86908234
2	respiratory chain complex IV assembly (GO:0008535)	5.49266107
3	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	5.28225782
4	* respiratory electron transport chain (GO:0022904)	4.88986375
5	* electron transport chain (GO:0022900)	4.84750547
6	cytochrome complex assembly (GO:0017004)	4.79987948
7	energy coupled proton transport, down electrochemical gradient (GO:0015985)	4.49096334
8	ATP synthesis coupled proton transport (GO:0015986)	4.49096334
9	proteasome assembly (GO:0043248)	4.32276839
10	oxidative phosphorylation (GO:0006119)	4.31082776
11	regulation of cellular amino acid metabolic process (GO:0006521)	3.92525695
12	DNA deamination (GO:0045006)	3.72631344
13	aerobic respiration (GO:0009060)	3.66959587
14	protein complex biogenesis (GO:0070271)	3.66925239
15	negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)	3.56103284
16	positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)	3.52434499
17	branched-chain amino acid catabolic process (GO:0009083)	3.48915989
18	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:00	3.38593740
19	regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	3.32761105
20	mitochondrial respiratory chain complex assembly (GO:0033108)	3.27691236
21	signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)	3.25076498
22	signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)	3.25076498
23	signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)	3.25076498
24	signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)	3.24230339
25	intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)	3.24230339
26	negative regulation of ubiquitin-protein transferase activity (GO:0051444)	3.18100663
27	negative regulation of ligase activity (GO:0051352)	3.18100663
28	aldehyde catabolic process (GO:0046185)	3.17689443
29	regulation of cellular amine metabolic process (GO:0033238)	3.08693300
30	signal transduction involved in DNA integrity checkpoint (GO:0072401)	3.06915564
31	signal transduction involved in DNA damage checkpoint (GO:0072422)	3.06915564
32	branched-chain amino acid metabolic process (GO:0009081)	3.05908207
33	ATP biosynthetic process (GO:0006754)	3.05540591
34	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	3.04944853
35	NADH metabolic process (GO:0006734)	3.04547613
36	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.02996542
37	NADH dehydrogenase complex assembly (GO:0010257)	3.02996542
38	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.02996542
39	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0	3.01761490
40	aggressive behavior (GO:0002118)	2.97792005
41	signal transduction involved in cell cycle checkpoint (GO:0072395)	2.97664627
42	mannosylation (GO:0097502)	2.97101046
43	* hydrogen ion transmembrane transport (GO:1902600)	2.96988820
44	positive regulation of ubiquitin-protein transferase activity (GO:0051443)	2.96234243
45	L-methionine salvage (GO:0071267)	2.93449116
46	L-methionine biosynthetic process (GO:0071265)	2.93449116
47	amino acid salvage (GO:0043102)	2.93449116
48	lactate metabolic process (GO:0006089)	2.91697202
49	chaperone-mediated protein transport (GO:0072321)	2.91544113
50	valine metabolic process (GO:0006573)	2.89896939
51	regulation of mitochondrial translation (GO:0070129)	2.88325455
52	water-soluble vitamin biosynthetic process (GO:0042364)	2.84546504
53	cellular ketone body metabolic process (GO:0046950)	2.81868819
54	short-chain fatty acid metabolic process (GO:0046459)	2.81519436
55	* hydrogen transport (GO:0006818)	2.79955479
56	* proton transport (GO:0015992)	2.79758630
57	positive regulation of ligase activity (GO:0051351)	2.78786333
58	purine nucleoside triphosphate biosynthetic process (GO:0009145)	2.78036533
59	negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)	2.75530281
60	purine ribonucleoside triphosphate biosynthetic process (GO:0009206)	2.73137845
61	xenobiotic catabolic process (GO:0042178)	2.72413199
62	succinate metabolic process (GO:0006105)	2.72295969
63	regulation of female receptivity (GO:0045924)	2.72008058
64	cellular respiration (GO:0045333)	2.57937805
65	rRNA modification (GO:0000154)	2.57618293
66	S-adenosylmethionine metabolic process (GO:0046500)	2.56838572
67	regulation of catecholamine metabolic process (GO:0042069)	2.56134730
68	regulation of dopamine metabolic process (GO:0042053)	2.56134730
69	ketone body metabolic process (GO:1902224)	2.55826186
70	tricarboxylic acid cycle (GO:0006099)	2.54552777
71	DNA double-strand break processing (GO:0000729)	2.53154082
72	cullin deneddylation (GO:0010388)	2.50754859
73	positive regulation of cell cycle arrest (GO:0071158)	2.50321143
74	DNA damage response, signal transduction by p53 class mediator (GO:0030330)	2.48624500
75	protein deneddylation (GO:0000338)	2.48152211
76	erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)	2.47703235
77	L-phenylalanine catabolic process (GO:0006559)	2.47703235
78	female mating behavior (GO:0060180)	2.47687449
79	base-excision repair, AP site formation (GO:0006285)	2.47243740
80	regulation of ubiquitin-protein transferase activity (GO:0051438)	2.47158041
81	inositol phosphate catabolic process (GO:0071545)	2.45193136
82	oxaloacetate metabolic process (GO:0006107)	2.44540283
83	phosphorylated carbohydrate dephosphorylation (GO:0046838)	2.42080900
84	inositol phosphate dephosphorylation (GO:0046855)	2.42080900
85	ubiquinone biosynthetic process (GO:0006744)	2.41649829
86	L-fucose catabolic process (GO:0042355)	2.41293660
87	fucose catabolic process (GO:0019317)	2.41293660
88	L-fucose metabolic process (GO:0042354)	2.41293660
89	quinone biosynthetic process (GO:1901663)	2.39546704
90	iron-sulfur cluster assembly (GO:0016226)	2.39420276
91	metallo-sulfur cluster assembly (GO:0031163)	2.39420276
92	drug catabolic process (GO:0042737)	2.39171027
93	glutathione derivative biosynthetic process (GO:1901687)	2.39122517
94	glutathione derivative metabolic process (GO:1901685)	2.39122517
95	glyoxylate metabolic process (GO:0046487)	2.39100035
96	aromatic amino acid family catabolic process (GO:0009074)	2.38430921
97	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	2.38399724
98	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	2.38399724
99	positive regulation of calcium ion-dependent exocytosis (GO:0045956)	2.36976572
100	ribonucleoside triphosphate biosynthetic process (GO:0009201)	2.36868057

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	4.92507938
2	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	4.66455280
3	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	3.78033048
4	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.98306772
5	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.97758459
6	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.90814602
7	VDR_22108803_ChIP-Seq_LS180_Human	2.71675503
8	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	2.44879958
9	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.43061752
10	SRF_21415370_ChIP-Seq_HL-1_Mouse	2.41210925
11	ZNF274_21170338_ChIP-Seq_K562_Hela	2.15982036
12	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	2.12511920
13	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	2.07119515
14	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.00026960
15	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.89191996
16	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.85911591
17	PPARG_19300518_ChIP-PET_3T3-L1_Mouse	1.79726169
18	VDR_23849224_ChIP-Seq_CD4+_Human	1.72540015
19	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.66337593
20	HNF4A_19761587_ChIP-ChIP_CACO-2_Human	1.63242303
21	FOXP3_21729870_ChIP-Seq_TREG_Human	1.63227758
22	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.63041508
23	HTT_18923047_ChIP-ChIP_STHdh_Human	1.48595825
24	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.48226769
25	ESRRB_18555785_ChIP-Seq_MESCs_Mouse	1.47050996
26	TP53_22573176_ChIP-Seq_HFKS_Human	1.46720850
27	AR_20517297_ChIP-Seq_VCAP_Human	1.45868736
28	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.43131115
29	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.42632125
30	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.42632125
31	IGF1R_20145208_ChIP-Seq_DFB_Human	1.37411676
32	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.34416086
33	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.34159994
34	BCAT_22108803_ChIP-Seq_LS180_Human	1.31992572
35	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	1.31967464
36	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.30935418
37	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.28328714
38	REST_21632747_ChIP-Seq_MESCs_Mouse	1.26595949
39	MYC_18940864_ChIP-ChIP_HL60_Human	1.25252925
40	MYC_19829295_ChIP-Seq_ESCs_Human	1.25021534
41	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.24719871
42	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.23997771
43	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	1.23434929
44	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	1.22670314
45	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	1.20796718
46	SOX2_19829295_ChIP-Seq_ESCs_Human	1.20411732
47	NANOG_19829295_ChIP-Seq_ESCs_Human	1.20411732
48	NCOR_22424771_ChIP-Seq_293T_Human	1.20378645
49	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.19353308
50	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.17895688
51	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.16138537
52	GBX2_23144817_ChIP-Seq_PC3_Human	1.16054512
53	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.15575448
54	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.15194607
55	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.14685898
56	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.13912493
57	HOXB7_26014856_ChIP-Seq_BT474_Human	1.13475288
58	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.13171461
59	TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human	1.10208814
60	TCF4_22108803_ChIP-Seq_LS180_Human	1.09839334
61	ERA_21632823_ChIP-Seq_H3396_Human	1.09364230
62	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	1.08619345
63	REST_18959480_ChIP-ChIP_MESCs_Mouse	1.07560940
64	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.06788908
65	GABP_19822575_ChIP-Seq_HepG2_Human	1.05716861
66	ERG_20517297_ChIP-Seq_VCAP_Human	1.04862184
67	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.04199049
68	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.03253138
69	BCL3_23251550_ChIP-Seq_MUSCLE_Mouse	1.03022377
70	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.01134771
71	ELK1_19687146_ChIP-ChIP_HELA_Human	1.01122917
72	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.00511956
73	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	0.98957484
74	PCGF2_27294783_Chip-Seq_ESCs_Mouse	0.98901249
75	P53_21459846_ChIP-Seq_SAOS-2_Human	0.98112793
76	PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse	0.97753325
77	TAF2_19829295_ChIP-Seq_ESCs_Human	0.96350947
78	FOXH1_21741376_ChIP-Seq_ESCs_Human	0.96150104
79	RBPJ_21746931_ChIP-Seq_IB4_Human	0.94612631
80	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	0.94474794
81	PHF8_20622853_ChIP-Seq_HELA_Human	0.94089916
82	FOXH1_21741376_ChIP-Seq_EPCs_Human	0.94083040
83	ER_23166858_ChIP-Seq_MCF-7_Human	0.93656680
84	ESR1_17901129_ChIP-ChIP_LIVER_Mouse	0.93033266
85	NANOG_20526341_ChIP-Seq_ESCs_Human	0.92889674
86	OCT4_20526341_ChIP-Seq_ESCs_Human	0.92877970
87	POU3F2_20337985_ChIP-ChIP_501MEL_Human	0.92605225
88	STAT1_20625510_ChIP-Seq_HELA_Human	0.90545314
89	KAP1_22055183_ChIP-Seq_ESCs_Mouse	0.90475766
90	AUTS2_25519132_ChIP-Seq_293T-REX_Human	0.90322475
91	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	0.89791553
92	RAD21_21589869_ChIP-Seq_MESCs_Mouse	0.89133921
93	NFE2_27457419_Chip-Seq_LIVER_Mouse	0.88089393
94	EWS_26573619_Chip-Seq_HEK293_Human	0.87741969
95	POU5F1_18358816_ChIP-ChIP_MESCs_Mouse	0.87628385
96	THAP11_20581084_ChIP-Seq_MESCs_Mouse	0.86752901
97	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	0.86409982
98	P300_19829295_ChIP-Seq_ESCs_Human	0.86127623
99	DCP1A_22483619_ChIP-Seq_HELA_Human	0.85933454
100	CBP_20019798_ChIP-Seq_JUKART_Human	0.85338077

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003880_abnormal_central_pattern	2.88535455
2	MP0005646_abnormal_pituitary_gland	2.87978538
3	MP0006036_abnormal_mitochondrial_physio	2.69628120
4	MP0008875_abnormal_xenobiotic_pharmacok	2.63863922
5	MP0003195_calcinosis	2.62928341
6	MP0004043_abnormal_pH_regulation	2.53437237
7	MP0003787_abnormal_imprinting	2.47671604
8	MP0008877_abnormal_DNA_methylation	2.42122009
9	MP0001968_abnormal_touch/_nociception	2.22764188
10	MP0002876_abnormal_thyroid_physiology	2.22095941
11	MP0005670_abnormal_white_adipose	2.19100846
12	MP0003011_delayed_dark_adaptation	2.16854098
13	MP0008872_abnormal_physiological_respon	2.15696989
14	MP0002272_abnormal_nervous_system	2.06597719
15	MP0009780_abnormal_chondrocyte_physiolo	2.04507851
16	MP0009046_muscle_twitch	2.02992153
17	MP0002138_abnormal_hepatobiliary_system	2.02033522
18	MP0002822_catalepsy	1.90059817
19	MP0009745_abnormal_behavioral_response	1.87177408
20	MP0001984_abnormal_olfaction	1.85655179
21	MP0005551_abnormal_eye_electrophysiolog	1.84638967
22	MP0001501_abnormal_sleep_pattern	1.77977683
23	MP0004215_abnormal_myocardial_fiber	1.77529779
24	MP0004859_abnormal_synaptic_plasticity	1.76849213
25	MP0002736_abnormal_nociception_after	1.76145828
26	MP0005360_urolithiasis	1.71014873
27	MP0001905_abnormal_dopamine_level	1.66604362
28	MP0004147_increased_porphyrin_level	1.66071246
29	MP0005075_abnormal_melanosome_morpholog	1.58976512
30	MP0002064_seizures	1.56133816
31	MP0004885_abnormal_endolymph	1.55092968
32	MP0003718_maternal_effect	1.55004111
33	MP0002102_abnormal_ear_morphology	1.54493700
34	MP0005645_abnormal_hypothalamus_physiol	1.54352320
35	MP0003123_paternal_imprinting	1.52461856
36	MP0006072_abnormal_retinal_apoptosis	1.48064301
37	MP0001764_abnormal_homeostasis	1.47067749
38	MP0005636_abnormal_mineral_homeostasis	1.41156607
39	MP0004019_abnormal_vitamin_homeostasis	1.39809571
40	MP0008775_abnormal_heart_ventricle	1.39526140
41	MP0005085_abnormal_gallbladder_physiolo	1.37977274
42	MP0001486_abnormal_startle_reflex	1.37968301
43	MP0003806_abnormal_nucleotide_metabolis	1.37721598
44	MP0003186_abnormal_redox_activity	1.34449550
45	MP0002837_dystrophic_cardiac_calcinosis	1.34326253
46	MP0010329_abnormal_lipoprotein_level	1.33880209
47	MP0002734_abnormal_mechanical_nocicepti	1.32239358
48	MP0000372_irregular_coat_pigmentation	1.31053980
49	MP0002572_abnormal_emotion/affect_behav	1.30709329
50	MP0008058_abnormal_DNA_repair	1.30142088
51	MP0005332_abnormal_amino_acid	1.28883178
52	MP0005365_abnormal_bile_salt	1.26968586
53	MP0002139_abnormal_hepatobiliary_system	1.25611717
54	MP0003635_abnormal_synaptic_transmissio	1.24278422
55	MP0002909_abnormal_adrenal_gland	1.23738088
56	MP0004270_analgesia	1.23162621
57	MP0006276_abnormal_autonomic_nervous	1.22722411
58	MP0005423_abnormal_somatic_nervous	1.21769295
59	MP0001970_abnormal_pain_threshold	1.20676602
60	MP0002733_abnormal_thermal_nociception	1.18699324
61	MP0001765_abnormal_ion_homeostasis	1.16396263
62	MP0003252_abnormal_bile_duct	1.15291224
63	MP0002557_abnormal_social/conspecific_i	1.13773704
64	MP0001986_abnormal_taste_sensitivity	1.09981070
65	MP0005535_abnormal_body_temperature	1.09778545
66	MP0005253_abnormal_eye_physiology	1.09227201
67	MP0009697_abnormal_copulation	1.08466141
68	MP0001485_abnormal_pinna_reflex	1.06651239
69	MP0003283_abnormal_digestive_organ	1.05447191
70	MP0002638_abnormal_pupillary_reflex	1.03345199
71	MP0002063_abnormal_learning/memory/cond	1.02815268
72	MP0000516_abnormal_urinary_system	1.01972202
73	MP0005367_renal/urinary_system_phenotyp	1.01972202
74	MP0002735_abnormal_chemical_nociception	0.99156785
75	MP0005220_abnormal_exocrine_pancreas	0.97610755
76	MP0006292_abnormal_olfactory_placode	0.96620860
77	MP0001666_abnormal_nutrient_absorption	0.96309834
78	MP0002229_neurodegeneration	0.96144426
79	MP0001502_abnormal_circadian_rhythm	0.94350184
80	MP0009643_abnormal_urine_homeostasis	0.92946424
81	MP0003137_abnormal_impulse_conducting	0.92894417
82	MP0003121_genomic_imprinting	0.92360466
83	MP0004924_abnormal_behavior	0.90358057
84	MP0005386_behavior/neurological_phenoty	0.90358057
85	MP0003786_premature_aging	0.89231405
86	MP0008995_early_reproductive_senescence	0.88942401
87	MP0008569_lethality_at_weaning	0.88928884
88	MP0006035_abnormal_mitochondrial_morpho	0.87364518
89	MP0001756_abnormal_urination	0.85728898
90	MP0008789_abnormal_olfactory_epithelium	0.78316381
91	MP0000230_abnormal_systemic_arterial	0.74544404
92	MP0002118_abnormal_lipid_homeostasis	0.74490827
93	MP0001529_abnormal_vocalization	0.72739390
94	MP0002069_abnormal_eating/drinking_beha	0.72472135
95	MP0002693_abnormal_pancreas_physiology	0.71121004
96	MP0005379_endocrine/exocrine_gland_phen	0.70571479
97	MP0002160_abnormal_reproductive_system	0.68549062
98	MP0005330_cardiomyopathy	0.68529048
99	MP0001929_abnormal_gametogenesis	0.67925124
100	MP0002067_abnormal_sensory_capabilities	0.67843465

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Hepatic necrosis (HP:0002605)	4.04459335
2	Acute necrotizing encephalopathy (HP:0006965)	3.99508994
3	Hepatocellular necrosis (HP:0001404)	3.90145860
4	Mitochondrial inheritance (HP:0001427)	3.81798219
5	Abnormal mitochondria in muscle tissue (HP:0008316)	3.81357970
6	Acute encephalopathy (HP:0006846)	3.80959061
7	Progressive macrocephaly (HP:0004481)	3.72160579
8	Increased CSF lactate (HP:0002490)	3.48729049
9	Hypoglycemic coma (HP:0001325)	3.10412574
10	Ketoacidosis (HP:0001993)	2.91888910
11	Cerebral edema (HP:0002181)	2.89494044
12	Hyperglycinuria (HP:0003108)	2.87942102
13	Hypomagnesemia (HP:0002917)	2.70347586
14	Hyperinsulinemic hypoglycemia (HP:0000825)	2.70332973
15	Delayed CNS myelination (HP:0002188)	2.69239830
16	Focal motor seizures (HP:0011153)	2.66835021
17	Hypoglycemic seizures (HP:0002173)	2.63483486
18	Pancreatic cysts (HP:0001737)	2.61550647
19	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	2.60789889
20	Decreased activity of mitochondrial respiratory chain (HP:0008972)	2.60789889
21	Lactic acidosis (HP:0003128)	2.56398025
22	Ketosis (HP:0001946)	2.55556845
23	Increased intramyocellular lipid droplets (HP:0012240)	2.55217825
24	Abnormality of dicarboxylic acid metabolism (HP:0010995)	2.52001487
25	Dicarboxylic aciduria (HP:0003215)	2.52001487
26	Cerebral hypomyelination (HP:0006808)	2.50486520
27	Pancreatic fibrosis (HP:0100732)	2.50100075
28	Lethargy (HP:0001254)	2.46142142
29	Increased serum lactate (HP:0002151)	2.43080633
30	Abnormality of serine family amino acid metabolism (HP:0010894)	2.40531757
31	Abnormality of glycine metabolism (HP:0010895)	2.40531757
32	Methylmalonic aciduria (HP:0012120)	2.39430733
33	Increased muscle lipid content (HP:0009058)	2.38871909
34	Congenital stationary night blindness (HP:0007642)	2.38231274
35	Hypothermia (HP:0002045)	2.37132773
36	Respiratory failure (HP:0002878)	2.35294912
37	Methylmalonic acidemia (HP:0002912)	2.34963117
38	Increased circulating renin level (HP:0000848)	2.34962823
39	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.34925632
40	Abnormality of magnesium homeostasis (HP:0004921)	2.33098775
41	Myokymia (HP:0002411)	2.32002754
42	Abnormality of midbrain morphology (HP:0002418)	2.28519418
43	Molar tooth sign on MRI (HP:0002419)	2.28519418
44	Increased hepatocellular lipid droplets (HP:0006565)	2.26912395
45	Generalized aminoaciduria (HP:0002909)	2.25088350
46	Hyperglycinemia (HP:0002154)	2.24665511
47	Abolished electroretinogram (ERG) (HP:0000550)	2.22559698
48	Abnormality of the renal cortex (HP:0011035)	2.22181505
49	Bile duct proliferation (HP:0001408)	2.20925152
50	Abnormal biliary tract physiology (HP:0012439)	2.20925152
51	Abnormality of urine glucose concentration (HP:0011016)	2.20550677
52	Glycosuria (HP:0003076)	2.20550677
53	Abnormal drinking behavior (HP:0030082)	2.17588998
54	Polydipsia (HP:0001959)	2.17588998
55	Lipid accumulation in hepatocytes (HP:0006561)	2.14791895
56	Decreased central vision (HP:0007663)	2.14672261
57	Progressive microcephaly (HP:0000253)	2.14669235
58	Increased serum pyruvate (HP:0003542)	2.12790651
59	True hermaphroditism (HP:0010459)	2.12051413
60	Absent/shortened dynein arms (HP:0200106)	2.12011971
61	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.12011971
62	Metabolic alkalosis (HP:0200114)	2.10234091
63	Optic disc pallor (HP:0000543)	2.08200503
64	Abnormality of aromatic amino acid family metabolism (HP:0004338)	2.07958541
65	Abnormality of renin-angiotensin system (HP:0000847)	2.06856115
66	Medial flaring of the eyebrow (HP:0010747)	2.04885858
67	Renal cortical cysts (HP:0000803)	2.03660601
68	Type I transferrin isoform profile (HP:0003642)	2.03362575
69	Testicular atrophy (HP:0000029)	2.02919417
70	Emotional lability (HP:0000712)	2.01996394
71	Nephronophthisis (HP:0000090)	1.99452148
72	CNS demyelination (HP:0007305)	1.99334630
73	Cystic liver disease (HP:0006706)	1.98276864
74	Abnormality of vitamin B metabolism (HP:0004340)	1.98034344
75	Exercise intolerance (HP:0003546)	1.97849562
76	Renal Fanconi syndrome (HP:0001994)	1.97775044
77	Palpitations (HP:0001962)	1.97719610
78	Abnormality of aspartate family amino acid metabolism (HP:0010899)	1.96673799
79	Cerebral palsy (HP:0100021)	1.95626991
80	Attenuation of retinal blood vessels (HP:0007843)	1.93873866
81	Febrile seizures (HP:0002373)	1.92831873
82	Hypokalemic alkalosis (HP:0001949)	1.92438121
83	Alkalosis (HP:0001948)	1.86794921
84	Abnormal glycosylation (HP:0012345)	1.86226238
85	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	1.86226238
86	Abnormal protein N-linked glycosylation (HP:0012347)	1.86226238
87	Abnormal protein glycosylation (HP:0012346)	1.86226238
88	Abnormality of the vitamin B12 metabolism (HP:0004341)	1.85162437
89	Abnormality of serum amino acid levels (HP:0003112)	1.84843184
90	Leukodystrophy (HP:0002415)	1.84603468
91	Polyuria (HP:0000103)	1.84575195
92	Abnormality of the renal medulla (HP:0100957)	1.84467923
93	Symptomatic seizures (HP:0011145)	1.83678553
94	Abnormality of glycolysis (HP:0004366)	1.83360372
95	Abnormal respiratory epithelium morphology (HP:0012253)	1.81407850
96	Abnormal respiratory motile cilium morphology (HP:0005938)	1.81407850
97	Abnormality of endocrine pancreas physiology (HP:0012093)	1.78715655
98	Abnormality of the pancreatic islet cells (HP:0006476)	1.78715655
99	Atonic seizures (HP:0010819)	1.78209938
100	Insulin-resistant diabetes mellitus (HP:0000831)	1.77828078

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	3.37850168
2	VRK2	3.07811356
3	MST4	2.96921235
4	EIF2AK1	2.78012152
5	BMPR1B	2.59251754
6	NUAK1	2.52732223
7	NME1	2.46559255
8	EIF2AK3	2.33616598
9	MAPKAPK3	2.32090555
10	STK16	2.28546594
11	MAP4K2	2.28262844
12	NTRK3	2.13080526
13	PHKG2	2.08961359
14	PHKG1	2.08961359
15	DAPK1	1.88737441
16	BCKDK	1.87112931
17	TAOK3	1.86005089
18	GRK1	1.84590628
19	MAP3K12	1.82717680
20	OXSR1	1.63594504
21	PINK1	1.55362240
22	FGFR2	1.48630188
23	BUB1	1.46284220
24	KDR	1.42904435
25	SCYL2	1.40879025
26	TNK2	1.40704621
27	NEK1	1.38201687
28	EPHA4	1.32242578
29	PLK2	1.24625245
30	DAPK2	1.21412630
31	CSNK1G3	1.15444306
32	INSRR	1.14838385
33	CSNK1G1	1.11989251
34	MAPKAPK5	1.11295318
35	STK39	1.09062495
36	WNK3	1.07776973
37	CSNK1G2	1.07246148
38	ADRBK2	1.05936852
39	BRSK1	1.05786946
40	MYLK	1.02282251
41	TIE1	1.01842225
42	TXK	1.01377313
43	MKNK2	1.00861846
44	FER	1.00725412
45	PLK3	0.93236611
46	GRK5	0.92974673
47	ITK	0.91255377
48	TTK	0.90419929
49	MUSK	0.90206783
50	EIF2AK2	0.87434870
51	WNK4	0.84966609
52	PAK3	0.84952767
53	MINK1	0.84078154
54	CSNK1A1L	0.84057640
55	PDK2	0.83726845
56	TESK1	0.83053135
57	PBK	0.80252182
58	MAPK13	0.79757462
59	TEC	0.76438041
60	PRKCE	0.76402653
61	MAP2K6	0.75070195
62	VRK1	0.72846475
63	LIMK1	0.72139471
64	CAMK2D	0.71709332
65	BRSK2	0.71541696
66	PRKCG	0.69972634
67	PIK3CA	0.68870791
68	BMPR2	0.68736299
69	TNIK	0.68567881
70	FES	0.66648409
71	CAMK2A	0.66137648
72	MST1R	0.61197071
73	PLK1	0.61031804
74	CDK3	0.60608174
75	STK38L	0.60138351
76	PRKCI	0.57484825
77	PRKD3	0.55914571
78	ERBB3	0.55905728
79	CSNK1A1	0.55435759
80	ACVR1B	0.54683172
81	MET	0.53204590
82	UHMK1	0.52603690
83	KIT	0.51688631
84	SRPK1	0.50679125
85	ZAK	0.47607050
86	PRKCA	0.47414033
87	ATR	0.46107974
88	IGF1R	0.43767769
89	PRKACA	0.42947270
90	CAMK1	0.42619963
91	PRKCQ	0.41113842
92	TRPM7	0.40324330
93	CDK8	0.38163822
94	MKNK1	0.37977021
95	CCNB1	0.37846683
96	CAMK2G	0.36852165
97	NTRK2	0.36716709
98	PAK6	0.36540531
99	NEK6	0.36052277
100	CAMKK1	0.35465431

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Proteasome_Homo sapiens_hsa03050	4.05827473
2	Oxidative phosphorylation_Homo sapiens_hsa00190	2.66925398
3	Fatty acid elongation_Homo sapiens_hsa00062	2.39217514
4	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	2.27132257
5	Parkinsons disease_Homo sapiens_hsa05012	2.25961070
6	Butanoate metabolism_Homo sapiens_hsa00650	1.98177510
7	Propanoate metabolism_Homo sapiens_hsa00640	1.94094607
8	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.91699961
9	Caffeine metabolism_Homo sapiens_hsa00232	1.89685188
10	Protein export_Homo sapiens_hsa03060	1.76441884
11	Tryptophan metabolism_Homo sapiens_hsa00380	1.69302762
12	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.65465354
13	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	1.64775665
14	Nitrogen metabolism_Homo sapiens_hsa00910	1.58804549
15	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	1.57828308
16	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.55735852
17	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.53131624
18	Chemical carcinogenesis_Homo sapiens_hsa05204	1.52168301
19	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.50670225
20	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	1.48597478
21	Phototransduction_Homo sapiens_hsa04744	1.48542079
22	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	1.41527025
23	Peroxisome_Homo sapiens_hsa04146	1.41204330
24	Alzheimers disease_Homo sapiens_hsa05010	1.38530246
25	Pyruvate metabolism_Homo sapiens_hsa00620	1.37783481
26	Fatty acid degradation_Homo sapiens_hsa00071	1.37364592
27	Huntingtons disease_Homo sapiens_hsa05016	1.35805286
28	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.33890175
29	Fatty acid metabolism_Homo sapiens_hsa01212	1.33176907
30	Histidine metabolism_Homo sapiens_hsa00340	1.32479665
31	Retinol metabolism_Homo sapiens_hsa00830	1.31226284
32	Cardiac muscle contraction_Homo sapiens_hsa04260	1.30778492
33	beta-Alanine metabolism_Homo sapiens_hsa00410	1.27450924
34	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.27233780
35	RNA polymerase_Homo sapiens_hsa03020	1.26616839
36	Homologous recombination_Homo sapiens_hsa03440	1.25989431
37	Linoleic acid metabolism_Homo sapiens_hsa00591	1.25367511
38	Phenylalanine metabolism_Homo sapiens_hsa00360	1.24163350
39	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	1.23005670
40	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	1.22788608
41	Cyanoamino acid metabolism_Homo sapiens_hsa00460	1.19825216
42	Sulfur metabolism_Homo sapiens_hsa00920	1.19716205
43	Insulin secretion_Homo sapiens_hsa04911	1.12818817
44	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.12612019
45	Mismatch repair_Homo sapiens_hsa03430	1.11771172
46	Tyrosine metabolism_Homo sapiens_hsa00350	1.10741564
47	Asthma_Homo sapiens_hsa05310	1.09488161
48	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.08070954
49	Collecting duct acid secretion_Homo sapiens_hsa04966	1.07409138
50	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.07348174
51	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.05152326
52	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.04916335
53	Glutathione metabolism_Homo sapiens_hsa00480	1.00299315
54	Base excision repair_Homo sapiens_hsa03410	0.99407447
55	One carbon pool by folate_Homo sapiens_hsa00670	0.96754141
56	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.94688013
57	Arginine biosynthesis_Homo sapiens_hsa00220	0.94132026
58	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.91915235
59	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.91692577
60	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	0.91276898
61	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.90460800
62	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.90153007
63	Purine metabolism_Homo sapiens_hsa00230	0.85868276
64	Nicotine addiction_Homo sapiens_hsa05033	0.85202181
65	Type I diabetes mellitus_Homo sapiens_hsa04940	0.84982190
66	Fat digestion and absorption_Homo sapiens_hsa04975	0.84931482
67	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.81469673
68	Amphetamine addiction_Homo sapiens_hsa05031	0.79561083
69	Arginine and proline metabolism_Homo sapiens_hsa00330	0.78027511
70	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.75866764
71	RNA degradation_Homo sapiens_hsa03018	0.75828106
72	Metabolic pathways_Homo sapiens_hsa01100	0.74482918
73	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.74250461
74	DNA replication_Homo sapiens_hsa03030	0.73454538
75	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.73148146
76	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.72753759
77	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.71823633
78	Folate biosynthesis_Homo sapiens_hsa00790	0.70396269
79	Salivary secretion_Homo sapiens_hsa04970	0.69138041
80	Fanconi anemia pathway_Homo sapiens_hsa03460	0.68673466
81	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.67068920
82	Circadian entrainment_Homo sapiens_hsa04713	0.66461319
83	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.63671993
84	Carbon metabolism_Homo sapiens_hsa01200	0.63127068
85	Pyrimidine metabolism_Homo sapiens_hsa00240	0.60635688
86	Regulation of autophagy_Homo sapiens_hsa04140	0.60256372
87	Olfactory transduction_Homo sapiens_hsa04740	0.56637177
88	Glycerolipid metabolism_Homo sapiens_hsa00561	0.53920722
89	Bile secretion_Homo sapiens_hsa04976	0.53665545
90	Sulfur relay system_Homo sapiens_hsa04122	0.53594175
91	Taste transduction_Homo sapiens_hsa04742	0.53288775
92	GABAergic synapse_Homo sapiens_hsa04727	0.50034727
93	Non-homologous end-joining_Homo sapiens_hsa03450	0.49354725
94	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.46813335
95	Mineral absorption_Homo sapiens_hsa04978	0.46581309
96	Renin secretion_Homo sapiens_hsa04924	0.46013708
97	PPAR signaling pathway_Homo sapiens_hsa03320	0.44180683
98	Morphine addiction_Homo sapiens_hsa05032	0.43209300
99	Oocyte meiosis_Homo sapiens_hsa04114	0.42399599
100	Autoimmune thyroid disease_Homo sapiens_hsa05320	0.41614304

MT-CYB

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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