ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	DNA deamination (GO:0045006)	4.37799383
2	rRNA catabolic process (GO:0016075)	4.29049782
3	respiratory chain complex IV assembly (GO:0008535)	4.00566335
4	single strand break repair (GO:0000012)	3.95394524
5	rRNA modification (GO:0000154)	3.90398314
6	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	3.89254693
7	protein complex biogenesis (GO:0070271)	3.89129903
8	glyoxylate metabolic process (GO:0046487)	3.83316391
9	proteasome assembly (GO:0043248)	3.81392364
10	water-soluble vitamin biosynthetic process (GO:0042364)	3.73832133
11	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	3.72776691
12	L-fucose catabolic process (GO:0042355)	3.72091265
13	fucose catabolic process (GO:0019317)	3.72091265
14	L-fucose metabolic process (GO:0042354)	3.72091265
15	cytochrome complex assembly (GO:0017004)	3.65938071
16	chaperone-mediated protein transport (GO:0072321)	3.64115742
17	rRNA methylation (GO:0031167)	3.54669045
18	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.54545130
19	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.54545130
20	NADH dehydrogenase complex assembly (GO:0010257)	3.54545130
21	regulation of nuclear cell cycle DNA replication (GO:0033262)	3.54205241
22	mitochondrial respiratory chain complex assembly (GO:0033108)	3.53081375
23	synapsis (GO:0007129)	3.48857726
24	behavioral response to nicotine (GO:0035095)	3.41766723
25	amino acid salvage (GO:0043102)	3.40807016
26	L-methionine salvage (GO:0071267)	3.40807016
27	L-methionine biosynthetic process (GO:0071265)	3.40807016
28	cell wall macromolecule catabolic process (GO:0016998)	3.36456561
29	energy coupled proton transport, down electrochemical gradient (GO:0015985)	3.30980889
30	ATP synthesis coupled proton transport (GO:0015986)	3.30980889
31	protein-cofactor linkage (GO:0018065)	3.28744225
32	inner mitochondrial membrane organization (GO:0007007)	3.28080877
33	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	3.13079143
34	aldehyde catabolic process (GO:0046185)	3.09204126
35	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	3.06412333
36	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	3.04384892
37	somatic diversification of immunoglobulins involved in immune response (GO:0002208)	3.02544263
38	isotype switching (GO:0045190)	3.02544263
39	somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)	3.02544263
40	male meiosis (GO:0007140)	2.99942364
41	establishment of protein localization to mitochondrial membrane (GO:0090151)	2.97717884
42	branched-chain amino acid catabolic process (GO:0009083)	2.96110652
43	negative regulation of DNA-dependent DNA replication (GO:2000104)	2.94326724
44	maturation of 5.8S rRNA (GO:0000460)	2.94325871
45	parturition (GO:0007567)	2.94078537
46	preassembly of GPI anchor in ER membrane (GO:0016254)	2.93983748
47	intracellular protein transmembrane import (GO:0044743)	2.93734678
48	protein import into peroxisome matrix (GO:0016558)	2.93522103
49	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	2.92511144
50	positive regulation of prostaglandin secretion (GO:0032308)	2.91677507
51	electron transport chain (GO:0022900)	2.91125692
52	branched-chain amino acid metabolic process (GO:0009081)	2.89884037
53	response to pheromone (GO:0019236)	2.89170990
54	respiratory electron transport chain (GO:0022904)	2.87977992
55	cell wall macromolecule metabolic process (GO:0044036)	2.84487258
56	adenosine metabolic process (GO:0046085)	2.84475987
57	regulation of oxidative phosphorylation (GO:0002082)	2.82281730
58	serine family amino acid catabolic process (GO:0009071)	2.80540021
59	mannosylation (GO:0097502)	2.76798745
60	sleep (GO:0030431)	2.73653028
61	sphingomyelin metabolic process (GO:0006684)	2.72264875
62	methionine biosynthetic process (GO:0009086)	2.72065016
63	protein neddylation (GO:0045116)	2.71669812
64	positive regulation of glycolytic process (GO:0045821)	2.71660428
65	phosphatidylinositol acyl-chain remodeling (GO:0036149)	2.71362977
66	piRNA metabolic process (GO:0034587)	2.70601429
67	polyol catabolic process (GO:0046174)	2.70096931
68	nucleoside transmembrane transport (GO:1901642)	2.69394555
69	transcription elongation from RNA polymerase III promoter (GO:0006385)	2.67669434
70	termination of RNA polymerase III transcription (GO:0006386)	2.67669434
71	peptidyl-histidine modification (GO:0018202)	2.67296191
72	DNA replication checkpoint (GO:0000076)	2.67012941
73	protein K11-linked deubiquitination (GO:0035871)	2.64871347
74	positive regulation of meiosis (GO:0045836)	2.64109139
75	male meiosis I (GO:0007141)	2.62987808
76	cellular ketone body metabolic process (GO:0046950)	2.62095800
77	biotin metabolic process (GO:0006768)	2.61295580
78	AMP metabolic process (GO:0046033)	2.60865401
79	oxidative phosphorylation (GO:0006119)	2.59479882
80	multicellular organism reproduction (GO:0032504)	2.59343880
81	glycine metabolic process (GO:0006544)	2.58840549
82	regulation of mitotic spindle checkpoint (GO:1903504)	2.58793864
83	regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	2.58793864
84	pyrimidine-containing compound transmembrane transport (GO:0072531)	2.58297920
85	aggressive behavior (GO:0002118)	2.55725351
86	oxidative demethylation (GO:0070989)	2.53705960
87	S-adenosylmethionine metabolic process (GO:0046500)	2.52182160
88	DNA ligation (GO:0006266)	2.49193073
89	platelet dense granule organization (GO:0060155)	2.49028643
90	prenylation (GO:0097354)	2.46970555
91	protein prenylation (GO:0018342)	2.46970555
92	positive regulation of meiotic cell cycle (GO:0051446)	2.46206602
93	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	2.45506107
94	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	2.45506107
95	DNA strand renaturation (GO:0000733)	2.44681472
96	positive regulation of protein homodimerization activity (GO:0090073)	2.44455519
97	pseudouridine synthesis (GO:0001522)	2.44366146
98	protein deneddylation (GO:0000338)	2.43256534
99	regulation of cellular amino acid metabolic process (GO:0006521)	2.42363253
100	negative regulation of protein oligomerization (GO:0032460)	2.41620030

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	VDR_22108803_ChIP-Seq_LS180_Human	4.25403035
2	ZNF274_21170338_ChIP-Seq_K562_Hela	3.56490705
3	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	3.33470165
4	GABP_17652178_ChIP-ChIP_JURKAT_Human	3.22184553
5	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.98292686
6	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.62430576
7	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.36269953
8	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.25688624
9	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.21021276
10	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.16919984
11	IGF1R_20145208_ChIP-Seq_DFB_Human	2.11565903
12	GBX2_23144817_ChIP-Seq_PC3_Human	2.08222109
13	FUS_26573619_Chip-Seq_HEK293_Human	2.07836636
14	EWS_26573619_Chip-Seq_HEK293_Human	2.03725779
15	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.02556734
16	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.98957668
17	TAF15_26573619_Chip-Seq_HEK293_Human	1.89252813
18	ELK1_19687146_ChIP-ChIP_HELA_Human	1.88347104
19	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.84112630
20	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.82776085
21	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.81445255
22	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.80417102
23	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.80195349
24	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.76637440
25	MYC_18940864_ChIP-ChIP_HL60_Human	1.76083119
26	VDR_23849224_ChIP-Seq_CD4+_Human	1.73781472
27	P300_19829295_ChIP-Seq_ESCs_Human	1.73101013
28	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.71798853
29	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.71797344
30	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.70252510
31	TP53_22573176_ChIP-Seq_HFKS_Human	1.66011144
32	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.61207861
33	AR_20517297_ChIP-Seq_VCAP_Human	1.61049907
34	SOX2_19829295_ChIP-Seq_ESCs_Human	1.58059143
35	NANOG_19829295_ChIP-Seq_ESCs_Human	1.58059143
36	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.50635008
37	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.49287797
38	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.47383233
39	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.44256693
40	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.43397376
41	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.41907254
42	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.41603527
43	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.41603527
44	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.39385744
45	FOXP3_21729870_ChIP-Seq_TREG_Human	1.38314660
46	BCAT_22108803_ChIP-Seq_LS180_Human	1.34697275
47	IRF1_19129219_ChIP-ChIP_H3396_Human	1.34613412
48	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.32989361
49	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.32046048
50	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.31892141
51	ER_23166858_ChIP-Seq_MCF-7_Human	1.31428803
52	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.29354464
53	CDX2_22108803_ChIP-Seq_LS180_Human	1.28753284
54	NCOR_22424771_ChIP-Seq_293T_Human	1.28225299
55	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.27436268
56	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.25208527
57	CBP_20019798_ChIP-Seq_JUKART_Human	1.24573239
58	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.24573239
59	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.23644477
60	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.22682720
61	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.22468414
62	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.21070856
63	ERG_20517297_ChIP-Seq_VCAP_Human	1.19760292
64	AR_25329375_ChIP-Seq_VCAP_Human	1.18822215
65	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.18545663
66	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.17811475
67	TCF4_23295773_ChIP-Seq_U87_Human	1.17783191
68	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.17100384
69	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.17100384
70	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.16784360
71	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.16739513
72	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.16738718
73	GATA3_26560356_Chip-Seq_TH2_Human	1.16402103
74	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.15774123
75	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.15571074
76	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.15504280
77	TCF4_22108803_ChIP-Seq_LS180_Human	1.15056140
78	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.13707861
79	HNF4A_19761587_ChIP-ChIP_CACO-2_Human	1.13412269
80	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.11367787
81	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.09796924
82	STAT3_23295773_ChIP-Seq_U87_Human	1.09065113
83	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.07881769
84	RBPJ_21746931_ChIP-Seq_IB4_Human	1.07053976
85	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.05515800
86	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.05167301
87	HOXB7_26014856_ChIP-Seq_BT474_Human	1.05093225
88	SMAD4_21799915_ChIP-Seq_A2780_Human	1.03875301
89	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.03872714
90	PHF8_20622853_ChIP-Seq_HELA_Human	1.02670657
91	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.02341652
92	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.01786991
93	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.01484561
94	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.00697184
95	IRF8_22096565_ChIP-ChIP_GC-B_Human	1.00440552
96	TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human	1.00265083
97	PIAS1_25552417_ChIP-Seq_VCAP_Human	0.99054196
98	FOXH1_21741376_ChIP-Seq_EPCs_Human	0.98963378
99	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	0.98615934
100	LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse	0.98035865

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002138_abnormal_hepatobiliary_system	4.41417898
2	MP0003787_abnormal_imprinting	3.81934716
3	MP0003195_calcinosis	3.69136423
4	MP0003806_abnormal_nucleotide_metabolis	3.39577172
5	MP0005646_abnormal_pituitary_gland	2.96797780
6	MP0008877_abnormal_DNA_methylation	2.96560749
7	MP0002876_abnormal_thyroid_physiology	2.96539770
8	MP0003718_maternal_effect	2.37127036
9	MP0002837_dystrophic_cardiac_calcinosis	2.34244028
10	MP0002102_abnormal_ear_morphology	2.29959887
11	MP0006276_abnormal_autonomic_nervous	2.29051281
12	MP0008875_abnormal_xenobiotic_pharmacok	2.28197534
13	MP0006072_abnormal_retinal_apoptosis	2.16877568
14	MP0005360_urolithiasis	2.16823806
15	MP0005551_abnormal_eye_electrophysiolog	2.16460034
16	MP0008775_abnormal_heart_ventricle	1.95664819
17	MP0001968_abnormal_touch/_nociception	1.90233814
18	MP0006036_abnormal_mitochondrial_physio	1.84350478
19	MP0009697_abnormal_copulation	1.76913887
20	MP0002277_abnormal_respiratory_mucosa	1.71268459
21	MP0002139_abnormal_hepatobiliary_system	1.70333243
22	MP0005410_abnormal_fertilization	1.70177800
23	MP0002736_abnormal_nociception_after	1.69141645
24	MP0009046_muscle_twitch	1.68454026
25	MP0004215_abnormal_myocardial_fiber	1.67319130
26	MP0004043_abnormal_pH_regulation	1.58528419
27	MP0000372_irregular_coat_pigmentation	1.54707188
28	MP0002272_abnormal_nervous_system	1.53512401
29	MP0001986_abnormal_taste_sensitivity	1.53084961
30	MP0005332_abnormal_amino_acid	1.52153849
31	MP0001501_abnormal_sleep_pattern	1.49548584
32	MP0002735_abnormal_chemical_nociception	1.46131694
33	MP0000647_abnormal_sebaceous_gland	1.37740850
34	MP0008995_early_reproductive_senescence	1.35389070
35	MP0003786_premature_aging	1.34321353
36	MP0010386_abnormal_urinary_bladder	1.34200124
37	MP0001486_abnormal_startle_reflex	1.31141026
38	MP0008872_abnormal_physiological_respon	1.30872222
39	MP0008058_abnormal_DNA_repair	1.30797161
40	MP0005075_abnormal_melanosome_morpholog	1.30268374
41	MP0001764_abnormal_homeostasis	1.30092914
42	MP0010329_abnormal_lipoprotein_level	1.29625673
43	MP0000230_abnormal_systemic_arterial	1.28909303
44	MP0003186_abnormal_redox_activity	1.23691406
45	MP0004145_abnormal_muscle_electrophysio	1.23382870
46	MP0003880_abnormal_central_pattern	1.22431593
47	MP0002693_abnormal_pancreas_physiology	1.22294402
48	MP0006035_abnormal_mitochondrial_morpho	1.17768130
49	MP0005220_abnormal_exocrine_pancreas	1.16820316
50	MP0001929_abnormal_gametogenesis	1.14090568
51	MP0005389_reproductive_system_phenotype	1.12588448
52	MP0003137_abnormal_impulse_conducting	1.12498713
53	MP0005084_abnormal_gallbladder_morpholo	1.12471227
54	MP0000569_abnormal_digit_pigmentation	1.10691826
55	MP0003638_abnormal_response/metabolism_	1.10415860
56	MP0005645_abnormal_hypothalamus_physiol	1.10287823
57	MP0005085_abnormal_gallbladder_physiolo	1.08801464
58	MP0004147_increased_porphyrin_level	1.08483093
59	MP0003011_delayed_dark_adaptation	1.06981442
60	MP0009745_abnormal_behavioral_response	1.06022035
61	MP0004885_abnormal_endolymph	1.04062745
62	MP0004142_abnormal_muscle_tone	1.02103065
63	MP0003121_genomic_imprinting	1.02043248
64	MP0002733_abnormal_thermal_nociception	1.01201335
65	MP0005636_abnormal_mineral_homeostasis	1.00893031
66	MP0001485_abnormal_pinna_reflex	1.00698634
67	MP0005253_abnormal_eye_physiology	1.00604809
68	MP0001293_anophthalmia	0.98875247
69	MP0002229_neurodegeneration	0.95572379
70	MP0006292_abnormal_olfactory_placode	0.95442127
71	MP0003567_abnormal_fetal_cardiomyocyte	0.95070027
72	MP0001756_abnormal_urination	0.94494170
73	MP0001661_extended_life_span	0.93590258
74	MP0009643_abnormal_urine_homeostasis	0.93269707
75	MP0005423_abnormal_somatic_nervous	0.89355473
76	MP0000383_abnormal_hair_follicle	0.89166482
77	MP0005187_abnormal_penis_morphology	0.87701437
78	MP0000653_abnormal_sex_gland	0.87132260
79	MP0004924_abnormal_behavior	0.86272604
80	MP0005386_behavior/neurological_phenoty	0.86272604
81	MP0000427_abnormal_hair_cycle	0.84325744
82	MP0003698_abnormal_male_reproductive	0.84210764
83	MP0004019_abnormal_vitamin_homeostasis	0.83999038
84	MP0001919_abnormal_reproductive_system	0.83938942
85	MP0002210_abnormal_sex_determination	0.83731809
86	MP0000631_abnormal_neuroendocrine_gland	0.83301350
87	MP0001970_abnormal_pain_threshold	0.79082341
88	MP0002909_abnormal_adrenal_gland	0.79036587
89	MP0002557_abnormal_social/conspecific_i	0.78586721
90	MP0001502_abnormal_circadian_rhythm	0.77200166
91	MP0010094_abnormal_chromosome_stability	0.75757519
92	MP0002638_abnormal_pupillary_reflex	0.72851528
93	MP0005266_abnormal_metabolism	0.72689296
94	MP0004085_abnormal_heartbeat	0.70857629
95	MP0003693_abnormal_embryo_hatching	0.70548833
96	MP0001145_abnormal_male_reproductive	0.69204121
97	MP0005535_abnormal_body_temperature	0.68191299
98	MP0001440_abnormal_grooming_behavior	0.67881291
99	MP0005365_abnormal_bile_salt	0.67390621
100	MP0002160_abnormal_reproductive_system	0.66886157

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Decreased electroretinogram (ERG) amplitude (HP:0000654)	3.32614519
2	Acute encephalopathy (HP:0006846)	3.23012191
3	Hyperinsulinemic hypoglycemia (HP:0000825)	3.14454226
4	Hyperglycemia (HP:0003074)	3.11025194
5	Abnormality of aspartate family amino acid metabolism (HP:0010899)	3.07611533
6	Acute necrotizing encephalopathy (HP:0006965)	3.05296156
7	Pancreatic fibrosis (HP:0100732)	3.04972263
8	Mitochondrial inheritance (HP:0001427)	3.01891339
9	Abnormality of midbrain morphology (HP:0002418)	3.01632510
10	Molar tooth sign on MRI (HP:0002419)	3.01632510
11	Increased CSF lactate (HP:0002490)	2.99612063
12	Pancreatic cysts (HP:0001737)	2.87933930
13	Hyperglycinemia (HP:0002154)	2.87096439
14	Hypothermia (HP:0002045)	2.86682533
15	Gaze-evoked nystagmus (HP:0000640)	2.84693081
16	Congenital stationary night blindness (HP:0007642)	2.83790166
17	Progressive macrocephaly (HP:0004481)	2.82462518
18	Hypomagnesemia (HP:0002917)	2.81532981
19	Large for gestational age (HP:0001520)	2.79809039
20	Decreased central vision (HP:0007663)	2.77637503
21	Hyperglycinuria (HP:0003108)	2.74065889
22	Congenital, generalized hypertrichosis (HP:0004540)	2.68633852
23	Abolished electroretinogram (ERG) (HP:0000550)	2.68479135
24	Hepatocellular necrosis (HP:0001404)	2.67648875
25	Insulin-resistant diabetes mellitus (HP:0000831)	2.63311049
26	Abnormal rod and cone electroretinograms (HP:0008323)	2.61990868
27	Stomatitis (HP:0010280)	2.57929524
28	Hepatic necrosis (HP:0002605)	2.57722291
29	Nephronophthisis (HP:0000090)	2.57704860
30	Aplasia/hypoplasia of the uterus (HP:0008684)	2.53873276
31	Hypoplasia of the uterus (HP:0000013)	2.52989732
32	Abnormal mitochondria in muscle tissue (HP:0008316)	2.51732563
33	True hermaphroditism (HP:0010459)	2.51223255
34	Thyroid-stimulating hormone excess (HP:0002925)	2.50882763
35	Ketoacidosis (HP:0001993)	2.49898450
36	Abnormal drinking behavior (HP:0030082)	2.49540302
37	Polydipsia (HP:0001959)	2.49540302
38	Lethargy (HP:0001254)	2.48007187
39	Methylmalonic acidemia (HP:0002912)	2.46881752
40	Increased hepatocellular lipid droplets (HP:0006565)	2.45074333
41	Tongue fasciculations (HP:0001308)	2.44087138
42	Type II lissencephaly (HP:0007260)	2.41797429
43	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.39473109
44	Keratoconus (HP:0000563)	2.37890657
45	Increased corneal curvature (HP:0100692)	2.37890657
46	Cerebral edema (HP:0002181)	2.37698139
47	Attenuation of retinal blood vessels (HP:0007843)	2.35301442
48	Abnormality of serum amino acid levels (HP:0003112)	2.35240539
49	Lipid accumulation in hepatocytes (HP:0006561)	2.33455366
50	Hypoglycemic seizures (HP:0002173)	2.30208456
51	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.27756646
52	Increased serum lactate (HP:0002151)	2.27000651
53	Abnormality of methionine metabolism (HP:0010901)	2.26679153
54	Abnormality of glycine metabolism (HP:0010895)	2.25144009
55	Abnormality of serine family amino acid metabolism (HP:0010894)	2.25144009
56	Pancreatic islet-cell hyperplasia (HP:0004510)	2.25027343
57	Ketosis (HP:0001946)	2.24833137
58	Hypoglycemic coma (HP:0001325)	2.22711861
59	Abnormality of urine glucose concentration (HP:0011016)	2.19832738
60	Glycosuria (HP:0003076)	2.19832738
61	Lactic acidosis (HP:0003128)	2.17213820
62	Abnormality of the renal medulla (HP:0100957)	2.14908053
63	Type I transferrin isoform profile (HP:0003642)	2.14424831
64	Anhidrosis (HP:0000970)	2.14288960
65	Disproportionate short-trunk short stature (HP:0003521)	2.13816911
66	Polyuria (HP:0000103)	2.13545160
67	3-Methylglutaconic aciduria (HP:0003535)	2.13142344
68	Renal Fanconi syndrome (HP:0001994)	2.09924234
69	Constricted visual fields (HP:0001133)	2.09085225
70	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	2.05134342
71	Abnormal protein N-linked glycosylation (HP:0012347)	2.05134342
72	Abnormal protein glycosylation (HP:0012346)	2.05134342
73	Abnormal glycosylation (HP:0012345)	2.05134342
74	Abnormality of magnesium homeostasis (HP:0004921)	2.05059321
75	Sclerocornea (HP:0000647)	2.03649820
76	Bile duct proliferation (HP:0001408)	2.00912952
77	Abnormal biliary tract physiology (HP:0012439)	2.00912952
78	Abnormality of the renal cortex (HP:0011035)	1.96988595
79	Methylmalonic aciduria (HP:0012120)	1.96602958
80	Muscle fibrillation (HP:0010546)	1.96518557
81	Abnormality of endocrine pancreas physiology (HP:0012093)	1.95814843
82	Abnormality of the pancreatic islet cells (HP:0006476)	1.95814843
83	Inability to walk (HP:0002540)	1.94853209
84	Optic disc pallor (HP:0000543)	1.93013186
85	Progressive inability to walk (HP:0002505)	1.91982742
86	Abnormality of alanine metabolism (HP:0010916)	1.89709248
87	Hyperalaninemia (HP:0003348)	1.89709248
88	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	1.89709248
89	Autoamputation (HP:0001218)	1.89521916
90	Chronic hepatic failure (HP:0100626)	1.89403174
91	Abnormality of sulfur amino acid metabolism (HP:0004339)	1.88437437
92	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	1.88175792
93	Type I diabetes mellitus (HP:0100651)	1.85411962
94	Tetany (HP:0001281)	1.84179403
95	Cerebellar dysplasia (HP:0007033)	1.82334757
96	Cystic liver disease (HP:0006706)	1.81202581
97	Respiratory failure (HP:0002878)	1.81132179
98	Pendular nystagmus (HP:0012043)	1.80968619
99	Decreased circulating renin level (HP:0003351)	1.79784535
100	Cerebral hypomyelination (HP:0006808)	1.79532054

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	TAF1	3.62718927
2	EIF2AK3	3.57759542
3	FRK	3.52569949
4	NUAK1	3.21545227
5	TLK1	2.86416360
6	STK39	2.84444361
7	VRK2	2.80088847
8	MST4	2.79467518
9	INSRR	2.51832247
10	BMPR1B	2.39115557
11	MKNK2	2.36629943
12	OXSR1	2.33314360
13	ADRBK2	2.30370676
14	ZAK	2.24489665
15	MKNK1	2.11242040
16	WNK4	2.06342323
17	GRK1	1.97925733
18	ACVR1B	1.94851233
19	MAP4K2	1.93026808
20	STK16	1.84322291
21	TAOK3	1.56887119
22	PHKG1	1.34302486
23	PHKG2	1.34302486
24	EIF2AK2	1.32493500
25	KIT	1.31547043
26	DAPK2	1.27610515
27	CAMKK2	1.24757243
28	MAP3K12	1.23492052
29	VRK1	1.22947698
30	WNK3	1.22613313
31	TEC	1.21778143
32	ERBB3	1.19765271
33	MAP3K13	1.16538424
34	TNIK	1.09912096
35	PLK2	1.09833419
36	MAPKAPK5	1.05868081
37	IKBKB	1.05214976
38	PLK3	1.00098658
39	TXK	0.91382420
40	PRKCG	0.90718924
41	TRPM7	0.90100017
42	PINK1	0.89003551
43	BRSK2	0.88075645
44	PBK	0.88032539
45	BUB1	0.86393853
46	MAPKAPK3	0.83790800
47	TGFBR1	0.79736660
48	MAP2K2	0.79453495
49	ADRBK1	0.79052101
50	TIE1	0.78746258
51	ITK	0.77631333
52	PLK4	0.75554573
53	DAPK1	0.74237096
54	PTK2B	0.73652931
55	RPS6KA5	0.72584707
56	MYLK	0.71378602
57	PRKCE	0.70887117
58	MAP2K6	0.69283235
59	BMPR2	0.68588546
60	FLT3	0.67184004
61	NME2	0.64830855
62	NTRK2	0.62899767
63	NME1	0.61174032
64	CDC7	0.57786616
65	PLK1	0.56974040
66	CSNK1G1	0.56018496
67	TNK2	0.56009354
68	IGF1R	0.54147925
69	PASK	0.54143451
70	GRK5	0.53970414
71	CSNK1G2	0.50512890
72	CSNK1G3	0.50261321
73	MET	0.49497369
74	PDK2	0.48933259
75	DYRK2	0.48877455
76	PRKCQ	0.47724334
77	CSF1R	0.47392952
78	NTRK3	0.47130959
79	STK38L	0.46753063
80	BCKDK	0.46123193
81	GRK7	0.45919785
82	STK3	0.45153735
83	CAMKK1	0.44110953
84	PRKCI	0.44078074
85	MAP3K14	0.42992892
86	EIF2AK1	0.42261480
87	TTK	0.42231273
88	PIK3CG	0.39636228
89	CHUK	0.39037693
90	SYK	0.38890397
91	MAP2K1	0.38685226
92	RPS6KB2	0.36684754
93	CAMK2D	0.35712436
94	PRKCA	0.34123221
95	KDR	0.33857899
96	LATS1	0.33415477
97	MUSK	0.32439002
98	CAMK2A	0.31943524
99	PRKG1	0.30117197
100	PRKACA	0.29216547

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Proteasome_Homo sapiens_hsa03050	2.90810081
2	One carbon pool by folate_Homo sapiens_hsa00670	2.74075072
3	Oxidative phosphorylation_Homo sapiens_hsa00190	2.43593905
4	Propanoate metabolism_Homo sapiens_hsa00640	2.43437742
5	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	2.26963837
6	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.20727773
7	Vitamin B6 metabolism_Homo sapiens_hsa00750	2.05398320
8	RNA polymerase_Homo sapiens_hsa03020	2.04620404
9	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.99927977
10	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.97379086
11	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.94223049
12	Nitrogen metabolism_Homo sapiens_hsa00910	1.92245067
13	Asthma_Homo sapiens_hsa05310	1.91490746
14	Sulfur metabolism_Homo sapiens_hsa00920	1.86310832
15	Phototransduction_Homo sapiens_hsa04744	1.83370543
16	Linoleic acid metabolism_Homo sapiens_hsa00591	1.82400704
17	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.78131816
18	Protein export_Homo sapiens_hsa03060	1.76909298
19	Peroxisome_Homo sapiens_hsa04146	1.75915002
20	Parkinsons disease_Homo sapiens_hsa05012	1.74699069
21	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.72233829
22	Non-homologous end-joining_Homo sapiens_hsa03450	1.67901449
23	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	1.61782612
24	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.57052943
25	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.50628147
26	Tryptophan metabolism_Homo sapiens_hsa00380	1.49681622
27	beta-Alanine metabolism_Homo sapiens_hsa00410	1.47051221
28	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.45787090
29	Collecting duct acid secretion_Homo sapiens_hsa04966	1.43270506
30	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.39552264
31	Basal transcription factors_Homo sapiens_hsa03022	1.37092970
32	RNA degradation_Homo sapiens_hsa03018	1.35927280
33	Selenocompound metabolism_Homo sapiens_hsa00450	1.34502842
34	Butanoate metabolism_Homo sapiens_hsa00650	1.33267305
35	Type I diabetes mellitus_Homo sapiens_hsa04940	1.32752386
36	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.30723096
37	Allograft rejection_Homo sapiens_hsa05330	1.29412485
38	Retinol metabolism_Homo sapiens_hsa00830	1.28532841
39	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.28463890
40	Homologous recombination_Homo sapiens_hsa03440	1.27966212
41	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.26577793
42	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.26483353
43	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	1.25234556
44	Chemical carcinogenesis_Homo sapiens_hsa05204	1.25099039
45	Regulation of autophagy_Homo sapiens_hsa04140	1.24870071
46	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.24367536
47	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	1.21982189
48	Ribosome_Homo sapiens_hsa03010	1.21904345
49	Autoimmune thyroid disease_Homo sapiens_hsa05320	1.21062107
50	Purine metabolism_Homo sapiens_hsa00230	1.13844912
51	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	1.12880516
52	Huntingtons disease_Homo sapiens_hsa05016	1.10277817
53	Alzheimers disease_Homo sapiens_hsa05010	1.08751059
54	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.00844868
55	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.99497344
56	Mismatch repair_Homo sapiens_hsa03430	0.98481703
57	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.97967355
58	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.97501478
59	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.95420601
60	Rheumatoid arthritis_Homo sapiens_hsa05323	0.91732679
61	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.90542499
62	Ether lipid metabolism_Homo sapiens_hsa00565	0.90480392
63	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.89148343
64	Graft-versus-host disease_Homo sapiens_hsa05332	0.83033122
65	RNA transport_Homo sapiens_hsa03013	0.82313163
66	Pyrimidine metabolism_Homo sapiens_hsa00240	0.82283741
67	Fatty acid degradation_Homo sapiens_hsa00071	0.82093929
68	Caffeine metabolism_Homo sapiens_hsa00232	0.77328638
69	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.75721977
70	Serotonergic synapse_Homo sapiens_hsa04726	0.75664228
71	Pyruvate metabolism_Homo sapiens_hsa00620	0.73627755
72	Insulin secretion_Homo sapiens_hsa04911	0.71934137
73	Metabolic pathways_Homo sapiens_hsa01100	0.69778576
74	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.69429046
75	Folate biosynthesis_Homo sapiens_hsa00790	0.68277648
76	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.68221349
77	Olfactory transduction_Homo sapiens_hsa04740	0.66847447
78	Sphingolipid metabolism_Homo sapiens_hsa00600	0.65215285
79	Fatty acid elongation_Homo sapiens_hsa00062	0.64738345
80	Cardiac muscle contraction_Homo sapiens_hsa04260	0.64441840
81	Taste transduction_Homo sapiens_hsa04742	0.62935409
82	Circadian rhythm_Homo sapiens_hsa04710	0.60477113
83	Type II diabetes mellitus_Homo sapiens_hsa04930	0.50102145
84	Arginine and proline metabolism_Homo sapiens_hsa00330	0.49061909
85	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.47359504
86	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.46175102
87	Circadian entrainment_Homo sapiens_hsa04713	0.45184531
88	Glutathione metabolism_Homo sapiens_hsa00480	0.44874568
89	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.43934467
90	Fanconi anemia pathway_Homo sapiens_hsa03460	0.39177389
91	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.37396241
92	Glycerolipid metabolism_Homo sapiens_hsa00561	0.36292311
93	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.35997325
94	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	0.35595662
95	Sulfur relay system_Homo sapiens_hsa04122	0.35231904
96	Glycosaminoglycan degradation_Homo sapiens_hsa00531	0.35136521
97	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.33363626
98	Mineral absorption_Homo sapiens_hsa04978	0.32557991
99	Salivary secretion_Homo sapiens_hsa04970	0.31688574
100	Bile secretion_Homo sapiens_hsa04976	0.30982411

MTND4P16

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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