ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	COPI coating of Golgi vesicle (GO:0048205)	7.24175638
2	Golgi transport vesicle coating (GO:0048200)	7.24175638
3	NADH metabolic process (GO:0006734)	5.46575977
4	retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	4.59278879
5	proline biosynthetic process (GO:0006561)	4.50479212
6	tricarboxylic acid cycle (GO:0006099)	4.49365071
7	protein maturation by protein folding (GO:0022417)	4.41772493
8	gluconeogenesis (GO:0006094)	4.15420851
9	maintenance of protein localization in endoplasmic reticulum (GO:0035437)	3.96844346
10	protein retention in ER lumen (GO:0006621)	3.92575489
11	hexose biosynthetic process (GO:0019319)	3.89017630
12	nucleobase-containing small molecule interconversion (GO:0015949)	3.80685987
13	monosaccharide biosynthetic process (GO:0046364)	3.79918124
14	L-serine metabolic process (GO:0006563)	3.67385403
15	oxaloacetate metabolic process (GO:0006107)	3.65413486
16	regulation of translational fidelity (GO:0006450)	3.59411536
17	formation of translation preinitiation complex (GO:0001731)	3.50354587
18	proline metabolic process (GO:0006560)	3.27746880
19	vesicle coating (GO:0006901)	3.26133279
20	glycolytic process (GO:0006096)	3.25882980
21	tricarboxylic acid metabolic process (GO:0072350)	3.25730889
22	COPII vesicle coating (GO:0048208)	3.23727214
23	oxidative phosphorylation (GO:0006119)	3.21955379
24	pentose-phosphate shunt (GO:0006098)	3.21899262
25	negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)	3.16850776
26	pteridine-containing compound biosynthetic process (GO:0042559)	3.04761803
27	fructose metabolic process (GO:0006000)	3.03677399
28	NADPH regeneration (GO:0006740)	2.99691710
29	erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)	2.97501626
30	L-phenylalanine metabolic process (GO:0006558)	2.97501626
31	tRNA aminoacylation for protein translation (GO:0006418)	2.95767811
32	ribosome assembly (GO:0042255)	2.94651373
33	glucose catabolic process (GO:0006007)	2.90477533
34	mitochondrial fusion (GO:0008053)	2.88264244
35	tRNA aminoacylation (GO:0043039)	2.82669738
36	amino acid activation (GO:0043038)	2.82669738
37	regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)	2.80981876
38	activation of signaling protein activity involved in unfolded protein response (GO:0006987)	2.79727454
39	glutamine family amino acid biosynthetic process (GO:0009084)	2.79717332
40	nucleoside diphosphate biosynthetic process (GO:0009133)	2.77967044
41	urea cycle (GO:0000050)	2.76973587
42	4-hydroxyproline metabolic process (GO:0019471)	2.76390942
43	nitrogen cycle metabolic process (GO:0071941)	2.76114900
44	positive regulation of nuclease activity (GO:0032075)	2.72298450
45	glucose 6-phosphate metabolic process (GO:0051156)	2.67787727
46	urea metabolic process (GO:0019627)	2.67123621
47	serine family amino acid biosynthetic process (GO:0009070)	2.67023688
48	peptidyl-proline hydroxylation (GO:0019511)	2.64249698
49	positive regulation of mitochondrial calcium ion concentration (GO:0051561)	2.63807398
50	glycosphingolipid catabolic process (GO:0046479)	2.62386710
51	regulation of early endosome to late endosome transport (GO:2000641)	2.62233828
52	biotin metabolic process (GO:0006768)	2.61321611
53	pteridine-containing compound metabolic process (GO:0042558)	2.61264240
54	pyruvate metabolic process (GO:0006090)	2.61236696
55	protein hydroxylation (GO:0018126)	2.58337200
56	mitotic nuclear envelope reassembly (GO:0007084)	2.56338584
57	nuclear envelope reassembly (GO:0031468)	2.56338584
58	tetrahydrofolate metabolic process (GO:0046653)	2.55163474
59	regulation of mammary gland epithelial cell proliferation (GO:0033599)	2.50797000
60	folic acid-containing compound biosynthetic process (GO:0009396)	2.50477548
61	regulation of cellular amino acid metabolic process (GO:0006521)	2.48792221
62	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	2.48751226
63	glycolipid catabolic process (GO:0019377)	2.48444730
64	negative regulation of release of cytochrome c from mitochondria (GO:0090201)	2.47642384
65	alpha-amino acid biosynthetic process (GO:1901607)	2.47438175
66	mitochondrial fragmentation involved in apoptotic process (GO:0043653)	2.46418936
67	succinate metabolic process (GO:0006105)	2.46146687
68	deoxyribonucleotide biosynthetic process (GO:0009263)	2.45914133
69	fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)	2.45051164
70	folic acid-containing compound metabolic process (GO:0006760)	2.44303378
71	AMP metabolic process (GO:0046033)	2.41667687
72	GDP-mannose metabolic process (GO:0019673)	2.41662174
73	endoplasmic reticulum unfolded protein response (GO:0030968)	2.41469848
74	protein targeting to mitochondrion (GO:0006626)	2.40773746
75	de novo posttranslational protein folding (GO:0051084)	2.40680366
76	regulation of nuclease activity (GO:0032069)	2.38168489
77	negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)	2.36912420
78	de novo protein folding (GO:0006458)	2.36577408
79	regulation of mitochondrial translation (GO:0070129)	2.36498483
80	alpha-linolenic acid metabolic process (GO:0036109)	2.36381623
81	ER-nucleus signaling pathway (GO:0006984)	2.36205788
82	negative regulation of cell size (GO:0045792)	2.36128714
83	glucose metabolic process (GO:0006006)	2.34999097
84	branched-chain amino acid catabolic process (GO:0009083)	2.34630410
85	aerobic respiration (GO:0009060)	2.34270131
86	cellular protein complex localization (GO:0034629)	2.34227271
87	protein complex localization (GO:0031503)	2.32485820
88	ribosomal large subunit biogenesis (GO:0042273)	2.32463663
89	ribosomal small subunit biogenesis (GO:0042274)	2.32213317
90	chaperone-mediated protein folding (GO:0061077)	2.30858181
91	endoplasmic reticulum calcium ion homeostasis (GO:0032469)	2.29747103
92	muscle cell cellular homeostasis (GO:0046716)	2.29134083
93	amyloid precursor protein catabolic process (GO:0042987)	2.28974610
94	deoxyribonucleoside monophosphate metabolic process (GO:0009162)	2.28645539
95	proteasome assembly (GO:0043248)	2.28555645
96	negative regulation of ubiquitin-protein transferase activity (GO:0051444)	2.28168638
97	negative regulation of ligase activity (GO:0051352)	2.28168638
98	NADP metabolic process (GO:0006739)	2.28098800
99	creatine metabolic process (GO:0006600)	2.27461876
100	doxorubicin metabolic process (GO:0044598)	2.26517918

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse	3.72983548
2	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	3.09763043
3	MYC_18555785_ChIP-Seq_MESCs_Mouse	3.05322859
4	ZNF263_19887448_ChIP-Seq_K562_Human	3.03561392
5	PPARG_19300518_ChIP-PET_3T3-L1_Mouse	2.99580461
6	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.64075287
7	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.62623120
8	E2F7_22180533_ChIP-Seq_HELA_Human	2.45641060
9	MYC_18358816_ChIP-ChIP_MESCs_Mouse	2.41632548
10	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.39944733
11	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	2.37971892
12	ESR1_17901129_ChIP-ChIP_LIVER_Mouse	2.35988694
13	CREB1_15753290_ChIP-ChIP_HEK293T_Human	2.34751589
14	THAP11_20581084_ChIP-Seq_MESCs_Mouse	2.34681286
15	TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse	2.29119194
16	ZFX_18555785_ChIP-Seq_MESCs_Mouse	2.23146695
17	MYC_19030024_ChIP-ChIP_MESCs_Mouse	2.12979597
18	* XRN2_22483619_ChIP-Seq_HELA_Human	2.11651250
19	DCP1A_22483619_ChIP-Seq_HELA_Human	2.09853588
20	* ETS1_20019798_ChIP-Seq_JURKAT_Human	2.09408683
21	MYC_19079543_ChIP-ChIP_MESCs_Mouse	2.02036339
22	CLOCK_20551151_ChIP-Seq_293T_Human	2.00924823
23	NELFA_20434984_ChIP-Seq_ESCs_Mouse	1.95287269
24	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	1.90113152
25	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.86849838
26	E2F1_18555785_ChIP-Seq_MESCs_Mouse	1.85803350
27	AR_21909140_ChIP-Seq_LNCAP_Human	1.85750071
28	ESRRB_18555785_ChIP-Seq_MESCs_Mouse	1.85533575
29	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.84233733
30	CCND1_20090754_ChIP-ChIP_RETINA_Mouse	1.83769942
31	DACH1_20351289_ChIP-Seq_MDA-MB-231_Human	1.82682128
32	CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat	1.75440845
33	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	1.74911854
34	MYCN_18555785_ChIP-Seq_MESCs_Mouse	1.70584336
35	GABP_19822575_ChIP-Seq_HepG2_Human	1.69808238
36	NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human	1.68196740
37	* TFEB_21752829_ChIP-Seq_HELA_Human	1.67619443
38	* RACK7_27058665_Chip-Seq_MCF-7_Human	1.63501475
39	TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.62819026
40	TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse	1.61598089
41	POU5F1_18555785_ChIP-Seq_MESCs_Mouse	1.61517520
42	KDM5A_27292631_Chip-Seq_BREAST_Human	1.60750011
43	KLF4_18555785_ChIP-Seq_MESCs_Mouse	1.60425781
44	SREBP1_19666523_ChIP-Seq_LIVER_Mouse	1.54903082
45	PRDM5_23873026_ChIP-Seq_MEFs_Mouse	1.54628345
46	ESR1_15608294_ChIP-ChIP_MCF-7_Human	1.53199603
47	BCL3_23251550_ChIP-Seq_MUSCLE_Mouse	1.53181796
48	RARG_19884340_ChIP-ChIP_MEFs_Mouse	1.50614008
49	TTF2_22483619_ChIP-Seq_HELA_Human	1.44490410
50	SRY_22984422_ChIP-ChIP_TESTIS_Rat	1.41547541
51	THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse	1.39313855
52	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	1.37966454
53	ZFP281_18358816_ChIP-ChIP_MESCs_Mouse	1.36602780
54	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.36243263
55	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.35866501
56	STAT3_1855785_ChIP-Seq_MESCs_Mouse	1.34517314
57	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	1.33901729
58	HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse	1.33414852
59	CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse	1.32936681
60	TP63_17297297_ChIP-ChIP_HaCaT_Human	1.32290668
61	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.31391993
62	LXR_22292898_ChIP-Seq_THP-1_Human	1.30923593
63	TBX5_21415370_ChIP-Seq_HL-1_Mouse	1.30118963
64	CNOT3_19339689_ChIP-ChIP_MESCs_Mouse	1.26756568
65	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.24749475
66	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.24515321
67	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.24043190
68	ATF3_27146783_Chip-Seq_COLON_Human	1.23065098
69	NANOG_18555785_ChIP-Seq_MESCs_Mouse	1.23044389
70	YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	1.22895053
71	KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human	1.22749534
72	TET1_21451524_ChIP-Seq_MESCs_Mouse	1.22489743
73	TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse	1.22110746
74	KLF4_18358816_ChIP-ChIP_MESCs_Mouse	1.21466906
75	RXR_22158963_ChIP-Seq_LIVER_Mouse	1.21302430
76	ERG_20887958_ChIP-Seq_HPC-7_Mouse	1.18936533
77	CHD1_26751641_Chip-Seq_LNCaP_Human	1.17089625
78	NR0B1_18358816_ChIP-ChIP_MESCs_Mouse	1.15986649
79	SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse	1.15826566
80	CEBPB_24764292_ChIP-Seq_MC3T3_Mouse	1.14921397
81	HIF1A_21447827_ChIP-Seq_MCF-7_Human	1.14634297
82	SIN3A_21632747_ChIP-Seq_MESCs_Mouse	1.12540996
83	HNF4A_19761587_ChIP-ChIP_CACO-2_Human	1.11362254
84	DMRT1_21621532_ChIP-ChIP_FETAL_Ovary	1.09566917
85	NKX2-5_21415370_ChIP-Seq_HL-1_Mouse	1.08214375
86	PPARA_22158963_ChIP-Seq_LIVER_Mouse	1.07790315
87	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.07033669
88	TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse	1.06589708
89	CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse	1.06439945
90	* ELK3_25401928_ChIP-Seq_HUVEC_Human	1.05065030
91	NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse	1.05051151
92	POU5F1_18700969_ChIP-ChIP_MESCs_Mouse	1.04964602
93	TAL1_20887958_ChIP-Seq_HPC-7_Mouse	1.04274527
94	CREM_20920259_ChIP-Seq_GC1-SPG_Mouse	1.03423954
95	TRIM28_19339689_ChIP-ChIP_MESCs_Mouse	1.03245524
96	CTCF_18555785_ChIP-Seq_MESCs_Mouse	1.01755378
97	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.01580040
98	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	1.00931439
99	ATF3_23680149_ChIP-Seq_GBM1-GSC_Human	1.00176674
100	ZNF652_21678463_ChIP-ChIP_ZR75-1_Human	0.99625292

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0005451_abnormal_body_composition	3.80721845
2	MP0005058_abnormal_lysosome_morphology	3.79693528
3	MP0004233_abnormal_muscle_weight	3.61186506
4	MP0010234_abnormal_vibrissa_follicle	3.39152702
5	MP0002877_abnormal_melanocyte_morpholog	3.32207086
6	MP0003806_abnormal_nucleotide_metabolis	2.92910811
7	MP0009840_abnormal_foam_cell	2.67164172
8	MP0000751_myopathy	2.62417360
9	MP0000747_muscle_weakness	2.51914131
10	MP0000749_muscle_degeneration	2.33412130
11	MP0006036_abnormal_mitochondrial_physio	2.25803125
12	MP0005408_hypopigmentation	2.24149757
13	MP0003705_abnormal_hypodermis_morpholog	2.10635019
14	MP0002269_muscular_atrophy	2.05390016
15	MP0003693_abnormal_embryo_hatching	1.92688392
16	MP0003186_abnormal_redox_activity	1.90010177
17	MP0005330_cardiomyopathy	1.87703070
18	MP0001661_extended_life_span	1.85709663
19	MP0004185_abnormal_adipocyte_glucose	1.83128515
20	MP0009780_abnormal_chondrocyte_physiolo	1.77008636
21	MP0000759_abnormal_skeletal_muscle	1.75790029
22	MP0000750_abnormal_muscle_regeneration	1.73872190
23	MP0008260_abnormal_autophagy	1.66230981
24	MP0002139_abnormal_hepatobiliary_system	1.65929334
25	MP0004087_abnormal_muscle_fiber	1.64230279
26	MP0004957_abnormal_blastocyst_morpholog	1.56249015
27	MP0001727_abnormal_embryo_implantation	1.55626093
28	MP0004858_abnormal_nervous_system	1.52708339
29	MP0000003_abnormal_adipose_tissue	1.52496846
30	MP0003191_abnormal_cellular_cholesterol	1.51376496
31	MP0005670_abnormal_white_adipose	1.48815163
32	MP0004782_abnormal_surfactant_physiolog	1.45150933
33	MP0000358_abnormal_cell_content/	1.43248959
34	MP0004036_abnormal_muscle_relaxation	1.41553147
35	MP0002796_impaired_skin_barrier	1.37641170
36	MP0003221_abnormal_cardiomyocyte_apopto	1.37600807
37	MP0006035_abnormal_mitochondrial_morpho	1.36890679
38	MP0003111_abnormal_nucleus_morphology	1.36234329
39	MP0008932_abnormal_embryonic_tissue	1.35856698
40	MP0001730_embryonic_growth_arrest	1.35803229
41	MP0008007_abnormal_cellular_replicative	1.34436543
42	MP0005501_abnormal_skin_physiology	1.33875783
43	MP0005365_abnormal_bile_salt	1.33140726
44	MP0005666_abnormal_adipose_tissue	1.32873532
45	MP0003941_abnormal_skin_development	1.30655968
46	MP0002090_abnormal_vision	1.30398270
47	MP0000013_abnormal_adipose_tissue	1.25201559
48	MP0005332_abnormal_amino_acid	1.24668815
49	MP0005248_abnormal_Harderian_gland	1.22588060
50	MP0003123_paternal_imprinting	1.20565421
51	MP0009672_abnormal_birth_weight	1.19400343
52	MP0003077_abnormal_cell_cycle	1.19371713
53	MP0001346_abnormal_lacrimal_gland	1.19353504
54	MP0005375_adipose_tissue_phenotype	1.19181515
55	MP0002909_abnormal_adrenal_gland	1.14949542
56	MP0000733_abnormal_muscle_development	1.14225615
57	MP0002106_abnormal_muscle_physiology	1.11336521
58	MP0004510_myositis	1.11150966
59	MP0005623_abnormal_meninges_morphology	1.10483918
60	MP0005584_abnormal_enzyme/coenzyme_acti	1.09072267
61	MP0003172_abnormal_lysosome_physiology	1.09063667
62	MP0002822_catalepsy	1.07668886
63	MP0005360_urolithiasis	1.06404259
64	MP0004084_abnormal_cardiac_muscle	1.04488950
65	MP0002971_abnormal_brown_adipose	1.04303391
66	MP0000609_abnormal_liver_physiology	1.00189174
67	MP0002837_dystrophic_cardiac_calcinosis	0.99853930
68	MP0005319_abnormal_enzyme/_coenzyme	0.97842748
69	MP0005165_increased_susceptibility_to	0.96332641
70	MP0003453_abnormal_keratinocyte_physiol	0.94664821
71	MP0000372_irregular_coat_pigmentation	0.92795009
72	MP0001881_abnormal_mammary_gland	0.91384085
73	MP0003868_abnormal_feces_composition	0.91341942
74	MP0004145_abnormal_muscle_electrophysio	0.90105458
75	MP0002332_abnormal_exercise_endurance	0.90081788
76	MP0003879_abnormal_hair_cell	0.89100789
77	MP0005257_abnormal_intraocular_pressure	0.87707281
78	MP0000350_abnormal_cell_proliferation	0.87017781
79	MP0002080_prenatal_lethality	0.86487478
80	MP0002896_abnormal_bone_mineralization	0.86462683
81	MP0000678_abnormal_parathyroid_gland	0.86351867
82	MP0005369_muscle_phenotype	0.85076634
83	MP0005083_abnormal_biliary_tract	0.84092536
84	MP0009697_abnormal_copulation	0.83904761
85	MP0000681_abnormal_thyroid_gland	0.83828482
86	MP0010030_abnormal_orbit_morphology	0.83433834
87	MP0003566_abnormal_cell_adhesion	0.82494829
88	MP0001666_abnormal_nutrient_absorption	0.80333647
89	MP0002972_abnormal_cardiac_muscle	0.80232546
90	MP0008438_abnormal_cutaneous_collagen	0.79778315
91	MP0000627_abnormal_mammary_gland	0.77948792
92	MP0001764_abnormal_homeostasis	0.77728784
93	MP0003634_abnormal_glial_cell	0.75446398
94	MP0003329_amyloid_beta_deposits	0.74637284
95	MP0000343_altered_response_to	0.74321163
96	MP0003646_muscle_fatigue	0.74251582
97	MP0010630_abnormal_cardiac_muscle	0.74018689
98	MP0005379_endocrine/exocrine_gland_phen	0.73165465
99	MP0009643_abnormal_urine_homeostasis	0.72454574
100	MP0002060_abnormal_skin_morphology	0.71922942

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Abnormality of glycolysis (HP:0004366)	4.09656519
2	Increased serum pyruvate (HP:0003542)	3.72214976
3	Exercise-induced muscle cramps (HP:0003710)	3.62427815
4	Rhabdomyolysis (HP:0003201)	3.61151020
5	Nemaline bodies (HP:0003798)	3.59870731
6	Myoglobinuria (HP:0002913)	3.46654679
7	Vertebral compression fractures (HP:0002953)	3.43626367
8	Distal lower limb muscle weakness (HP:0009053)	3.39243143
9	Muscle fiber inclusion bodies (HP:0100299)	3.38026858
10	Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)	3.32176330
11	Cholecystitis (HP:0001082)	3.29902053
12	Abnormal gallbladder physiology (HP:0012438)	3.29902053
13	Exercise-induced myalgia (HP:0003738)	3.19514496
14	Ragged-red muscle fibers (HP:0003200)	3.03004502
15	Microvesicular hepatic steatosis (HP:0001414)	2.93558742
16	Abnormality of long-chain fatty-acid metabolism (HP:0010964)	2.92044596
17	Myopathic facies (HP:0002058)	2.81916276
18	Abnormality of aromatic amino acid family metabolism (HP:0004338)	2.81221323
19	Centrally nucleated skeletal muscle fibers (HP:0003687)	2.72108533
20	Hypokinesia (HP:0002375)	2.70922004
21	EMG: myopathic abnormalities (HP:0003458)	2.62082035
22	Hyperammonemia (HP:0001987)	2.58500093
23	Achilles tendon contracture (HP:0001771)	2.48519111
24	Distal lower limb amyotrophy (HP:0008944)	2.47579821
25	Abnormality of the Achilles tendon (HP:0005109)	2.43582684
26	Cholelithiasis (HP:0001081)	2.38498198
27	Progressive muscle weakness (HP:0003323)	2.36674350
28	Multiple enchondromatosis (HP:0005701)	2.36104791
29	Abnormality of the distal phalanges of the toes (HP:0010182)	2.34280303
30	Abnormality of glycolipid metabolism (HP:0010969)	2.34082822
31	Abnormality of liposaccharide metabolism (HP:0010968)	2.34082822
32	Abnormality of glycosphingolipid metabolism (HP:0004343)	2.34082822
33	Abnormality of fatty-acid metabolism (HP:0004359)	2.33774264
34	Abnormal gallbladder morphology (HP:0012437)	2.29867808
35	Hypoglycemic coma (HP:0001325)	2.28792362
36	Trismus (HP:0000211)	2.25832976
37	Hand muscle atrophy (HP:0009130)	2.24076133
38	Distal upper limb amyotrophy (HP:0007149)	2.22660222
39	Upper limb amyotrophy (HP:0009129)	2.22660222
40	Decreased activity of mitochondrial respiratory chain (HP:0008972)	2.20381608
41	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	2.20381608
42	Reduced antithrombin III activity (HP:0001976)	2.15578062
43	Insidious onset (HP:0003587)	2.15057543
44	Termporal pattern (HP:0011008)	2.15057543
45	Hyperparathyroidism (HP:0000843)	2.14088410
46	Limb-girdle muscle atrophy (HP:0003797)	2.13684600
47	Gout (HP:0001997)	2.13502059
48	Axonal loss (HP:0003447)	2.11379413
49	Upper limb muscle weakness (HP:0003484)	2.10978965
50	Exercise intolerance (HP:0003546)	2.07558297
51	Abnormal mitochondria in muscle tissue (HP:0008316)	2.06038819
52	Cerebral hypomyelination (HP:0006808)	2.05574576
53	Increased intramyocellular lipid droplets (HP:0012240)	2.05002631
54	Asymmetric septal hypertrophy (HP:0001670)	2.02857901
55	Spastic paraparesis (HP:0002313)	2.01829184
56	Abnormality of the umbilical cord (HP:0010881)	2.00709348
57	Abnormality of the gallbladder (HP:0005264)	1.97983578
58	Cerebral edema (HP:0002181)	1.97762368
59	Progressive external ophthalmoplegia (HP:0000590)	1.97555477
60	Testicular atrophy (HP:0000029)	1.97194111
61	Hepatic necrosis (HP:0002605)	1.93119877
62	Type 1 muscle fiber predominance (HP:0003803)	1.92936828
63	Abnormality of the anterior horn cell (HP:0006802)	1.92204189
64	Degeneration of anterior horn cells (HP:0002398)	1.92204189
65	Acute encephalopathy (HP:0006846)	1.91703511
66	Abnormality of skeletal muscle fiber size (HP:0012084)	1.90303679
67	Abnormalities of placenta or umbilical cord (HP:0001194)	1.89460039
68	Muscle stiffness (HP:0003552)	1.87996654
69	Type I transferrin isoform profile (HP:0003642)	1.87232323
70	Increased muscle lipid content (HP:0009058)	1.85752732
71	Lactic acidosis (HP:0003128)	1.83847515
72	Neck muscle weakness (HP:0000467)	1.83823564
73	Calcaneovalgus deformity (HP:0001848)	1.82028079
74	Abnormal cartilage morphology (HP:0002763)	1.81727700
75	Tetraparesis (HP:0002273)	1.81296999
76	Back pain (HP:0003418)	1.80820790
77	Acute necrotizing encephalopathy (HP:0006965)	1.79988138
78	Generalized aminoaciduria (HP:0002909)	1.79885853
79	Fasciculations (HP:0002380)	1.79171200
80	Loss of speech (HP:0002371)	1.77250670
81	Diminished movement (HP:0002374)	1.77164372
82	Abnormality of monocarboxylic acid metabolism (HP:0010996)	1.75885091
83	Increased connective tissue (HP:0009025)	1.75793791
84	Growth hormone excess (HP:0000845)	1.74946989
85	Foot dorsiflexor weakness (HP:0009027)	1.74190879
86	Mildly elevated creatine phosphokinase (HP:0008180)	1.72934901
87	Round ear (HP:0100830)	1.72615521
88	Paraparesis (HP:0002385)	1.70877197
89	J-shaped sella turcica (HP:0002680)	1.69841161
90	Deep venous thrombosis (HP:0002625)	1.69039514
91	Hyporeflexia of lower limbs (HP:0002600)	1.68993919
92	Pheochromocytoma (HP:0002666)	1.67395805
93	Lower limb amyotrophy (HP:0007210)	1.66574961
94	Prolonged neonatal jaundice (HP:0006579)	1.65782092
95	Symptomatic seizures (HP:0011145)	1.65759106
96	Fetal akinesia sequence (HP:0001989)	1.65745648
97	Unilateral renal agenesis (HP:0000122)	1.65372294
98	Hepatocellular necrosis (HP:0001404)	1.64508969
99	Abnormality of the calf musculature (HP:0001430)	1.64336232
100	Amniotic constriction ring (HP:0009775)	1.64312796

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	NME2	4.05913311
2	IRAK3	3.33205491
3	TESK1	3.07499546
4	SCYL2	3.04204130
5	EIF2AK1	3.00227709
6	TRIB3	2.95141604
7	NEK1	2.61309707
8	ARAF	2.45810106
9	MST1R	2.32795919
10	PIM2	2.21067357
11	EPHA2	2.14274772
12	LIMK1	2.07163967
13	PAK4	1.89917329
14	BUB1	1.86669749
15	STK16	1.86590760
16	EEF2K	1.85157300
17	PDK2	1.78018498
18	PBK	1.75272739
19	ICK	1.70155538
20	MAP3K12	1.68842017
21	MAPKAPK3	1.61622416
22	SRPK1	1.57826355
23	EIF2AK3	1.57689591
24	PHKG1	1.55055604
25	PHKG2	1.55055604
26	ERN1	1.46274632
27	OBSCN	1.46021888
28	TESK2	1.41554472
29	SMG1	1.38829984
30	TTN	1.35602369
31	MET	1.31600649
32	BCKDK	1.27921429
33	LMTK2	1.15786325
34	PRKD3	1.14471883
35	ILK	1.10161511
36	MAP3K9	1.08780793
37	SIK1	1.07187863
38	PKN2	1.04602827
39	PRPF4B	1.02332548
40	VRK2	1.01996260
41	RPS6KB2	1.00002472
42	SIK3	0.99813845
43	BRAF	0.99422543
44	LATS2	0.98855877
45	AKT2	0.98772233
46	LRRK2	0.95518466
47	ABL2	0.94665938
48	TRIM28	0.93686472
49	DAPK1	0.89588513
50	TTK	0.89380823
51	KSR2	0.88821654
52	TAOK2	0.88242352
53	TSSK6	0.88014831
54	CAMK2G	0.85516281
55	ERBB3	0.84174809
56	PTK2	0.82414409
57	MAP3K3	0.81127634
58	BRSK1	0.75928738
59	MAPKAPK5	0.75128162
60	CDK7	0.70009451
61	CDK14	0.67323498
62	CSNK1G3	0.66623850
63	MAP3K8	0.64880025
64	CDK6	0.63245395
65	CDK18	0.62706697
66	PDPK1	0.61886777
67	CDK15	0.59955135
68	DDR2	0.59869105
69	CDK11A	0.59586145
70	PRKCI	0.59261277
71	NTRK1	0.57430799
72	RIPK1	0.56369268
73	DAPK3	0.55658697
74	PDGFRA	0.55322543
75	MTOR	0.54590013
76	NME1	0.54346039
77	AURKA	0.54073535
78	IRAK2	0.51657088
79	CAMK2D	0.50786288
80	AURKB	0.50685840
81	ERBB4	0.50324972
82	ALK	0.49208799
83	NEK9	0.49141561
84	PAK1	0.49017862
85	MOS	0.48255977
86	TBK1	0.46536101
87	FER	0.45981139
88	CSNK1A1L	0.45038334
89	RAF1	0.44228059
90	MAP3K11	0.43161390
91	RPS6KA4	0.42663024
92	MUSK	0.40932824
93	MAPK11	0.39387360
94	DYRK1B	0.35335482
95	PAK6	0.35021505
96	CAMK2B	0.30178238
97	WEE1	0.29546580
98	MAP3K5	0.29018382
99	DMPK	0.28803468
100	CDK8	0.27854969

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	4.26101267
2	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	3.76918451
3	Biosynthesis of amino acids_Homo sapiens_hsa01230	2.92745944
4	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	2.91738242
5	Carbon metabolism_Homo sapiens_hsa01200	2.65268664
6	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	2.39474044
7	Proteasome_Homo sapiens_hsa03050	2.35103049
8	Pentose phosphate pathway_Homo sapiens_hsa00030	2.31011285
9	Fatty acid elongation_Homo sapiens_hsa00062	2.24782404
10	Pyruvate metabolism_Homo sapiens_hsa00620	2.12433942
11	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	1.96343951
12	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.93034747
13	Fructose and mannose metabolism_Homo sapiens_hsa00051	1.86447677
14	Arginine biosynthesis_Homo sapiens_hsa00220	1.82664606
15	Vitamin B6 metabolism_Homo sapiens_hsa00750	1.81077680
16	Vibrio cholerae infection_Homo sapiens_hsa05110	1.75743275
17	Arginine and proline metabolism_Homo sapiens_hsa00330	1.73261983
18	Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141	1.73128138
19	Sulfur metabolism_Homo sapiens_hsa00920	1.61242318
20	Sulfur relay system_Homo sapiens_hsa04122	1.59799514
21	Galactose metabolism_Homo sapiens_hsa00052	1.58084373
22	Other glycan degradation_Homo sapiens_hsa00511	1.54803767
23	Oxidative phosphorylation_Homo sapiens_hsa00190	1.54539822
24	Phenylalanine metabolism_Homo sapiens_hsa00360	1.53109899
25	Cyanoamino acid metabolism_Homo sapiens_hsa00460	1.52636927
26	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	1.42447110
27	Fatty acid metabolism_Homo sapiens_hsa01212	1.41346300
28	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.40968191
29	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.35046068
30	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	1.34505679
31	One carbon pool by folate_Homo sapiens_hsa00670	1.27261265
32	Parkinsons disease_Homo sapiens_hsa05012	1.26093241
33	Folate biosynthesis_Homo sapiens_hsa00790	1.24944113
34	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.23837147
35	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.20869087
36	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.20666544
37	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	1.19643029
38	Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524	1.19201906
39	DNA replication_Homo sapiens_hsa03030	1.16923937
40	N-Glycan biosynthesis_Homo sapiens_hsa00510	1.12865900
41	Fatty acid degradation_Homo sapiens_hsa00071	1.10341941
42	Ribosome_Homo sapiens_hsa03010	1.07163185
43	Glutathione metabolism_Homo sapiens_hsa00480	1.07016644
44	Protein export_Homo sapiens_hsa03060	0.99732403
45	Prion diseases_Homo sapiens_hsa05020	0.96318371
46	Lysosome_Homo sapiens_hsa04142	0.96275136
47	Pyrimidine metabolism_Homo sapiens_hsa00240	0.94942427
48	Propanoate metabolism_Homo sapiens_hsa00640	0.93928683
49	Glycosaminoglycan degradation_Homo sapiens_hsa00531	0.92955178
50	Alzheimers disease_Homo sapiens_hsa05010	0.92136233
51	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.90441919
52	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.90010776
53	Base excision repair_Homo sapiens_hsa03410	0.87591970
54	Tyrosine metabolism_Homo sapiens_hsa00350	0.86282951
55	Mismatch repair_Homo sapiens_hsa03430	0.85848691
56	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.85739603
57	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.84311869
58	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.82789166
59	Huntingtons disease_Homo sapiens_hsa05016	0.81929254
60	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	0.78187872
61	Central carbon metabolism in cancer_Homo sapiens_hsa05230	0.77518686
62	Steroid biosynthesis_Homo sapiens_hsa00100	0.77289712
63	Collecting duct acid secretion_Homo sapiens_hsa04966	0.75321925
64	beta-Alanine metabolism_Homo sapiens_hsa00410	0.72933928
65	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	0.72781899
66	Bladder cancer_Homo sapiens_hsa05219	0.70863548
67	Cardiac muscle contraction_Homo sapiens_hsa04260	0.69946980
68	Peroxisome_Homo sapiens_hsa04146	0.69547660
69	RNA transport_Homo sapiens_hsa03013	0.69377085
70	Metabolic pathways_Homo sapiens_hsa01100	0.69274181
71	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.69228710
72	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.66929493
73	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	0.66191647
74	Insulin signaling pathway_Homo sapiens_hsa04910	0.61153096
75	AMPK signaling pathway_Homo sapiens_hsa04152	0.60356859
76	Thyroid cancer_Homo sapiens_hsa05216	0.60335391
77	Spliceosome_Homo sapiens_hsa03040	0.59978762
78	Sphingolipid metabolism_Homo sapiens_hsa00600	0.55573741
79	Glucagon signaling pathway_Homo sapiens_hsa04922	0.55402147
80	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.53756749
81	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.51874440
82	Bacterial invasion of epithelial cells_Homo sapiens_hsa05100	0.49442646
83	PPAR signaling pathway_Homo sapiens_hsa03320	0.48377210
84	Nucleotide excision repair_Homo sapiens_hsa03420	0.48207169
85	Purine metabolism_Homo sapiens_hsa00230	0.45852237
86	Butanoate metabolism_Homo sapiens_hsa00650	0.45676722
87	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	0.43622262
88	Tryptophan metabolism_Homo sapiens_hsa00380	0.38014419
89	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.37496774
90	Histidine metabolism_Homo sapiens_hsa00340	0.36215270
91	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.35828705
92	RNA polymerase_Homo sapiens_hsa03020	0.34788892
93	Selenocompound metabolism_Homo sapiens_hsa00450	0.32750690
94	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.31174601
95	Complement and coagulation cascades_Homo sapiens_hsa04610	0.24502188
96	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	0.24168901
97	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	0.21887435
98	Lysine degradation_Homo sapiens_hsa00310	0.21274004
99	Legionellosis_Homo sapiens_hsa05134	0.19908397
100	Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120	0.18997509

C1ORF43

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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