ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	proline biosynthetic process (GO:0006561)	5.33798584
2	negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)	4.98935735
3	NADH metabolic process (GO:0006734)	4.75028380
4	COPI coating of Golgi vesicle (GO:0048205)	4.66862098
5	Golgi transport vesicle coating (GO:0048200)	4.66862098
6	proline metabolic process (GO:0006560)	4.56710134
7	urea cycle (GO:0000050)	4.26818817
8	ribosomal small subunit biogenesis (GO:0042274)	4.23919093
9	protein maturation by protein folding (GO:0022417)	4.18308306
10	protein retention in ER lumen (GO:0006621)	4.17936552
11	urea metabolic process (GO:0019627)	4.17178050
12	GDP-mannose metabolic process (GO:0019673)	3.96546407
13	maintenance of protein localization in endoplasmic reticulum (GO:0035437)	3.91521151
14	erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)	3.86544476
15	L-phenylalanine metabolic process (GO:0006558)	3.86544476
16	nitrogen cycle metabolic process (GO:0071941)	3.81820997
17	pentose-phosphate shunt (GO:0006098)	3.67705087
18	L-serine metabolic process (GO:0006563)	3.51660164
19	peptidyl-arginine omega-N-methylation (GO:0035247)	3.48593933
20	oxaloacetate metabolic process (GO:0006107)	3.46870804
21	monosaccharide biosynthetic process (GO:0046364)	3.46672204
22	retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	3.46580647
23	protein carboxylation (GO:0018214)	3.45852085
24	peptidyl-glutamic acid carboxylation (GO:0017187)	3.45852085
25	negative regulation of cell size (GO:0045792)	3.45517460
26	regulation of mammary gland epithelial cell proliferation (GO:0033599)	3.43738243
27	gluconeogenesis (GO:0006094)	3.38958265
28	glucose catabolic process (GO:0006007)	3.35346996
29	regulation of translational fidelity (GO:0006450)	3.28265597
30	glutamine family amino acid biosynthetic process (GO:0009084)	3.27282006
31	hexose biosynthetic process (GO:0019319)	3.25300957
32	NADPH regeneration (GO:0006740)	3.24665363
33	nucleobase-containing small molecule interconversion (GO:0015949)	3.11308517
34	pentose metabolic process (GO:0019321)	3.11141044
35	glucose 6-phosphate metabolic process (GO:0051156)	3.08081359
36	histone arginine methylation (GO:0034969)	3.04292475
37	mitotic chromosome condensation (GO:0007076)	3.04260354
38	mitochondrial fusion (GO:0008053)	3.03538911
39	DNA unwinding involved in DNA replication (GO:0006268)	3.01964924
40	4-hydroxyproline metabolic process (GO:0019471)	3.01880755
41	positive regulation of triglyceride lipase activity (GO:0061365)	2.99379803
42	positive regulation of lipoprotein lipase activity (GO:0051006)	2.99379803
43	formation of translation preinitiation complex (GO:0001731)	2.97545930
44	erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)	2.96048783
45	L-phenylalanine catabolic process (GO:0006559)	2.96048783
46	viral transcription (GO:0019083)	2.95391432
47	regulation of cholesterol biosynthetic process (GO:0045540)	2.92839335
48	serine family amino acid biosynthetic process (GO:0009070)	2.92274778
49	apoptotic process involved in morphogenesis (GO:0060561)	2.92176071
50	tricarboxylic acid metabolic process (GO:0072350)	2.89696966
51	UV protection (GO:0009650)	2.87329952
52	regulation of cholesterol homeostasis (GO:2000188)	2.83622854
53	regulation of early endosome to late endosome transport (GO:2000641)	2.80867756
54	mitotic nuclear envelope reassembly (GO:0007084)	2.79737773
55	nuclear envelope reassembly (GO:0031468)	2.79737773
56	negative regulation of release of cytochrome c from mitochondria (GO:0090201)	2.76946139
57	maturation of SSU-rRNA (GO:0030490)	2.76299732
58	sulfur amino acid catabolic process (GO:0000098)	2.74585994
59	glyoxylate metabolic process (GO:0046487)	2.70052987
60	tricarboxylic acid cycle (GO:0006099)	2.67581662
61	positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling	2.66430875
62	fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)	2.64733392
63	translational termination (GO:0006415)	2.64580810
64	endoplasmic reticulum calcium ion homeostasis (GO:0032469)	2.63985019
65	fructose metabolic process (GO:0006000)	2.62352232
66	cellular modified amino acid catabolic process (GO:0042219)	2.62091043
67	pinocytosis (GO:0006907)	2.61474387
68	peptidyl-arginine methylation (GO:0018216)	2.61255583
69	peptidyl-arginine N-methylation (GO:0035246)	2.61255583
70	folic acid metabolic process (GO:0046655)	2.61057916
71	maternal placenta development (GO:0001893)	2.58850624
72	translational elongation (GO:0006414)	2.56925119
73	alpha-linolenic acid metabolic process (GO:0036109)	2.55314279
74	deoxyribonucleoside monophosphate metabolic process (GO:0009162)	2.55096849
75	regulation of glucose import in response to insulin stimulus (GO:2001273)	2.52979252
76	regulation of cholesterol esterification (GO:0010872)	2.51380800
77	focal adhesion assembly (GO:0048041)	2.50835701
78	cell-substrate adherens junction assembly (GO:0007045)	2.50835701
79	negative regulation of fibrinolysis (GO:0051918)	2.49432494
80	ribonucleoprotein complex biogenesis (GO:0022613)	2.47627615
81	barbed-end actin filament capping (GO:0051016)	2.46974462
82	adherens junction assembly (GO:0034333)	2.46251376
83	positive regulation of fatty acid biosynthetic process (GO:0045723)	2.45482595
84	ribosomal small subunit assembly (GO:0000028)	2.45043062
85	protein insertion into membrane (GO:0051205)	2.44960024
86	regulation of fibrinolysis (GO:0051917)	2.43600853
87	NADP metabolic process (GO:0006739)	2.42450953
88	glycolytic process (GO:0006096)	2.41588035
89	regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway	2.41133216
90	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)	2.40255949
91	regulation of cholesterol metabolic process (GO:0090181)	2.39277228
92	rRNA transcription (GO:0009303)	2.38845666
93	viral life cycle (GO:0019058)	2.38184305
94	regulation of plasminogen activation (GO:0010755)	2.37132731
95	basement membrane organization (GO:0071711)	2.36982249
96	protein localization to endosome (GO:0036010)	2.36335351
97	low-density lipoprotein particle clearance (GO:0034383)	2.32919901
98	purine ribonucleotide transport (GO:0015868)	2.32241040
99	spliceosomal tri-snRNP complex assembly (GO:0000244)	2.30397297
100	heterochromatin organization (GO:0070828)	2.30133151

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	3.23799697
2	EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse	3.10311903
3	PPARG_19300518_ChIP-PET_3T3-L1_Mouse	3.08354963
4	ESR1_17901129_ChIP-ChIP_LIVER_Mouse	2.55830077
5	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	2.52877109
6	* LXR_22292898_ChIP-Seq_THP-1_Human	2.43417879
7	MYC_18555785_ChIP-Seq_MESCs_Mouse	2.34420318
8	TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse	2.33909394
9	VDR_21846776_ChIP-Seq_THP-1_Human	2.33168374
10	RARG_19884340_ChIP-ChIP_MEFs_Mouse	2.26513318
11	ZNF263_19887448_ChIP-Seq_K562_Human	2.25672804
12	TP63_17297297_ChIP-ChIP_HaCaT_Human	2.20575079
13	E2F7_22180533_ChIP-Seq_HELA_Human	2.19447379
14	MYC_18358816_ChIP-ChIP_MESCs_Mouse	2.03484035
15	MYC_22102868_ChIP-Seq_BL_Human	2.02259679
16	ELK3_25401928_ChIP-Seq_HUVEC_Human	2.01042669
17	RACK7_27058665_Chip-Seq_MCF-7_Human	1.95966383
18	DACH1_20351289_ChIP-Seq_MDA-MB-231_Human	1.88576948
19	NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human	1.88280541
20	THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse	1.86195985
21	CCND1_20090754_ChIP-ChIP_RETINA_Mouse	1.81523050
22	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	1.75527398
23	TET1_21451524_ChIP-Seq_MESCs_Mouse	1.72067485
24	XRN2_22483619_ChIP-Seq_HELA_Human	1.71156383
25	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.68660493
26	SRY_22984422_ChIP-ChIP_TESTIS_Rat	1.65517887
27	MYC_19079543_ChIP-ChIP_MESCs_Mouse	1.63751450
28	ZFP281_18358816_ChIP-ChIP_MESCs_Mouse	1.61366312
29	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.58090286
30	MYC_19030024_ChIP-ChIP_MESCs_Mouse	1.54665762
31	ZFX_18555785_ChIP-Seq_MESCs_Mouse	1.54152855
32	TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.54145457
33	KDM2B_26808549_Chip-Seq_SIL-ALL_Human	1.53778918
34	P68_20966046_ChIP-Seq_HELA_Human	1.53600187
35	KLF4_18358816_ChIP-ChIP_MESCs_Mouse	1.50016926
36	RXR_22158963_ChIP-Seq_LIVER_Mouse	1.46656060
37	PPARA_22158963_ChIP-Seq_LIVER_Mouse	1.43930006
38	KLF4_18555785_ChIP-Seq_MESCs_Mouse	1.41516443
39	CEBPB_24764292_ChIP-Seq_MC3T3_Mouse	1.38985037
40	NELFA_20434984_ChIP-Seq_ESCs_Mouse	1.37658060
41	ZNF652_21678463_ChIP-ChIP_ZR75-1_Human	1.34988174
42	SA1_27219007_Chip-Seq_ERYTHROID_Human	1.33015994
43	SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse	1.32482768
44	UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human	1.32451510
45	E2F1_18555785_ChIP-Seq_MESCs_Mouse	1.30602692
46	NR0B1_18358816_ChIP-ChIP_MESCs_Mouse	1.30452915
47	KDM2B_26808549_Chip-Seq_SUP-B15_Human	1.30326427
48	CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat	1.29432649
49	STAT3_1855785_ChIP-Seq_MESCs_Mouse	1.29227555
50	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	1.28791392
51	ELF1_20517297_ChIP-Seq_JURKAT_Human	1.28719002
52	CTCF_27219007_Chip-Seq_ERYTHROID_Human	1.27910226
53	ERG_21242973_ChIP-ChIP_JURKAT_Human	1.27588601
54	ESRRB_18555785_ChIP-Seq_MESCs_Mouse	1.26635830
55	SREBP1_19666523_ChIP-Seq_LIVER_Mouse	1.25746411
56	FOXM1_23109430_ChIP-Seq_U2OS_Human	1.25736332
57	CLOCK_20551151_ChIP-Seq_293T_Human	1.22451013
58	NANOG_18555785_ChIP-Seq_MESCs_Mouse	1.22338857
59	ESR1_15608294_ChIP-ChIP_MCF-7_Human	1.21590936
60	HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse	1.21393764
61	KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human	1.20908140
62	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.19131145
63	SREBP2_21459322_ChIP-Seq_LIVER_Mouse	1.18791400
64	ATF3_27146783_Chip-Seq_COLON_Human	1.18565084
65	DCP1A_22483619_ChIP-Seq_HELA_Human	1.17915309
66	GABP_19822575_ChIP-Seq_HepG2_Human	1.17387751
67	* KDM2B_26808549_Chip-Seq_DND41_Human	1.17234117
68	NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse	1.17228123
69	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.17034442
70	CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse	1.16986873
71	ZFP281_18757296_ChIP-ChIP_E14_Mouse	1.16688592
72	SMC4_20622854_ChIP-Seq_HELA_Human	1.16503291
73	TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse	1.16181422
74	SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse	1.14925280
75	POU5F1_18700969_ChIP-ChIP_MESCs_Mouse	1.14291783
76	* FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	1.13969318
77	TCF7_22412390_ChIP-Seq_EML_Mouse	1.13099690
78	CTCF_18555785_ChIP-Seq_MESCs_Mouse	1.12305715
79	CNOT3_19339689_ChIP-ChIP_MESCs_Mouse	1.11257312
80	TAL1_20887958_ChIP-Seq_HPC-7_Mouse	1.10010480
81	ESR2_21235772_ChIP-Seq_MCF-7_Human	1.09968111
82	* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human	1.09351556
83	BCOR_27268052_Chip-Seq_Bcells_Human	1.08650825
84	POU5F1_18555785_ChIP-Seq_MESCs_Mouse	1.08633431
85	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	1.08500948
86	CREB1_26743006_Chip-Seq_LNCaP_Human	1.07950654
87	KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human	1.07829891
88	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.07337203
89	SIN3A_21632747_ChIP-Seq_MESCs_Mouse	1.07182734
90	OCT4_18692474_ChIP-Seq_MEFs_Mouse	1.06810970
91	* NCOR1_26117541_ChIP-Seq_K562_Human	1.06382175
92	RUNX2_24764292_ChIP-Seq_MC3T3_Mouse	1.06371806
93	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.05421267
94	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.05045003
95	FOXP1_21924763_ChIP-Seq_HESCs_Human	1.04357543
96	BCL6_27268052_Chip-Seq_Bcells_Human	1.04179483
97	RARA_24833708_ChIP-Seq_LIVER_Mouse	1.03900099
98	CTCF_26484167_Chip-Seq_Bcells_Mouse	1.03200718
99	EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	1.02546117
100	SETDB1_19884255_ChIP-Seq_MESCs_Mouse	1.02075255

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0005451_abnormal_body_composition	4.24278443
2	MP0003705_abnormal_hypodermis_morpholog	3.92265060
3	MP0009840_abnormal_foam_cell	3.51093828
4	MP0002139_abnormal_hepatobiliary_system	3.31594740
5	MP0005058_abnormal_lysosome_morphology	3.10191573
6	MP0005360_urolithiasis	3.01594978
7	MP0004233_abnormal_muscle_weight	2.52796681
8	MP0000751_myopathy	2.43143389
9	MP0003191_abnormal_cellular_cholesterol	2.39599976
10	MP0004185_abnormal_adipocyte_glucose	2.33002260
11	MP0010030_abnormal_orbit_morphology	2.31023296
12	MP0005365_abnormal_bile_salt	2.11762166
13	MP0004858_abnormal_nervous_system	2.11033535
14	MP0008438_abnormal_cutaneous_collagen	2.05842041
15	MP0003806_abnormal_nucleotide_metabolis	2.00495471
16	MP0003693_abnormal_embryo_hatching	1.98646922
17	MP0005670_abnormal_white_adipose	1.96212971
18	MP0008260_abnormal_autophagy	1.88542754
19	MP0002877_abnormal_melanocyte_morpholog	1.83281445
20	MP0000678_abnormal_parathyroid_gland	1.81873693
21	MP0001661_extended_life_span	1.80739476
22	MP0000747_muscle_weakness	1.73600891
23	MP0005666_abnormal_adipose_tissue	1.69398254
24	MP0002796_impaired_skin_barrier	1.68796066
25	MP0000750_abnormal_muscle_regeneration	1.68571885
26	MP0005501_abnormal_skin_physiology	1.66908962
27	MP0005257_abnormal_intraocular_pressure	1.57977917
28	MP0001849_ear_inflammation	1.57871749
29	MP0003111_abnormal_nucleus_morphology	1.55192325
30	MP0010234_abnormal_vibrissa_follicle	1.51601546
31	MP0005076_abnormal_cell_differentiation	1.49187377
32	MP0000003_abnormal_adipose_tissue	1.48401296
33	MP0002249_abnormal_larynx_morphology	1.48222241
34	MP0003566_abnormal_cell_adhesion	1.48177667
35	MP0005330_cardiomyopathy	1.46938809
36	MP0000749_muscle_degeneration	1.44392311
37	MP0005375_adipose_tissue_phenotype	1.43732496
38	MP0004957_abnormal_blastocyst_morpholog	1.41687893
39	MP0000759_abnormal_skeletal_muscle	1.41098068
40	MP0002089_abnormal_postnatal_growth/wei	1.36255687
41	MP0001730_embryonic_growth_arrest	1.34451473
42	MP0009379_abnormal_foot_pigmentation	1.33940876
43	MP0005083_abnormal_biliary_tract	1.33143765
44	MP0003186_abnormal_redox_activity	1.31205621
45	MP0005085_abnormal_gallbladder_physiolo	1.27634772
46	MP0006036_abnormal_mitochondrial_physio	1.27286770
47	MP0003329_amyloid_beta_deposits	1.26902628
48	MP0003453_abnormal_keratinocyte_physiol	1.26480490
49	MP0000537_abnormal_urethra_morphology	1.23387113
50	MP0004087_abnormal_muscle_fiber	1.23317196
51	MP0000609_abnormal_liver_physiology	1.17264658
52	MP0009672_abnormal_birth_weight	1.16042538
53	MP0009278_abnormal_bone_marrow	1.15114924
54	MP0000733_abnormal_muscle_development	1.15040088
55	MP0000858_altered_metastatic_potential	1.13780909
56	MP0008875_abnormal_xenobiotic_pharmacok	1.12244134
57	MP0005332_abnormal_amino_acid	1.10891492
58	MP0008932_abnormal_embryonic_tissue	1.08807262
59	MP0003123_paternal_imprinting	1.08326079
60	MP0005623_abnormal_meninges_morphology	1.06689206
61	MP0004272_abnormal_basement_membrane	1.05716907
62	MP0009333_abnormal_splenocyte_physiolog	1.05466379
63	MP0003077_abnormal_cell_cycle	1.02760996
64	MP0009053_abnormal_anal_canal	0.96915488
65	MP0002269_muscular_atrophy	0.96885284
66	MP0001666_abnormal_nutrient_absorption	0.93799766
67	MP0002060_abnormal_skin_morphology	0.93515995
68	MP0002080_prenatal_lethality	0.93431739
69	MP0000604_amyloidosis	0.91080856
70	MP0005319_abnormal_enzyme/_coenzyme	0.88695859
71	MP0000490_abnormal_crypts_of	0.88339819
72	MP0000350_abnormal_cell_proliferation	0.86122562
73	MP0005584_abnormal_enzyme/coenzyme_acti	0.85960647
74	MP0010630_abnormal_cardiac_muscle	0.85399767
75	MP0000343_altered_response_to	0.85287135
76	MP0000467_abnormal_esophagus_morphology	0.82255277
77	MP0002971_abnormal_brown_adipose	0.81338733
78	MP0009931_abnormal_skin_appearance	0.77830336
79	MP0001727_abnormal_embryo_implantation	0.77414812
80	MP0002118_abnormal_lipid_homeostasis	0.76432666
81	MP0002970_abnormal_white_adipose	0.75900750
82	MP0000598_abnormal_liver_morphology	0.75764308
83	MP0003959_abnormal_lean_body	0.74948729
84	MP0000313_abnormal_cell_death	0.74516701
85	MP0003315_abnormal_perineum_morphology	0.73362560
86	MP0006035_abnormal_mitochondrial_morpho	0.71785552
87	MP0009643_abnormal_urine_homeostasis	0.71214696
88	MP0003075_altered_response_to	0.70517260
89	MP0003868_abnormal_feces_composition	0.70356065
90	MP0010329_abnormal_lipoprotein_level	0.68187771
91	MP0001346_abnormal_lacrimal_gland	0.67398938
92	MP0001348_abnormal_lacrimal_gland	0.67105001
93	MP0000358_abnormal_cell_content/	0.66649636
94	MP0003942_abnormal_urinary_system	0.64965801
95	MP0001216_abnormal_epidermal_layer	0.64806130
96	MP0002106_abnormal_muscle_physiology	0.64720617
97	MP0005023_abnormal_wound_healing	0.64586328
98	MP0001915_intracranial_hemorrhage	0.64467174
99	MP0005165_increased_susceptibility_to	0.63939763
100	MP0004782_abnormal_surfactant_physiolog	0.63671120

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Deep venous thrombosis (HP:0002625)	3.81609731
2	Achilles tendon contracture (HP:0001771)	3.60485997
3	Abnormality of the Achilles tendon (HP:0005109)	3.48393913
4	Cholecystitis (HP:0001082)	3.46572496
5	Abnormal gallbladder physiology (HP:0012438)	3.46572496
6	Abnormality of monocarboxylic acid metabolism (HP:0010996)	3.35007019
7	Distal lower limb muscle weakness (HP:0009053)	3.29316685
8	Vertebral compression fractures (HP:0002953)	3.27253869
9	Ragged-red muscle fibers (HP:0003200)	3.06642759
10	Myopathic facies (HP:0002058)	3.06596971
11	Premature rupture of membranes (HP:0001788)	2.99461087
12	Hyperacusis (HP:0010780)	2.97160237
13	Progressive muscle weakness (HP:0003323)	2.87454310
14	Centrally nucleated skeletal muscle fibers (HP:0003687)	2.86398714
15	Increased connective tissue (HP:0009025)	2.80647452
16	Abnormality of aromatic amino acid family metabolism (HP:0004338)	2.80358485
17	Abnormality of glycolysis (HP:0004366)	2.73388911
18	Protrusio acetabuli (HP:0003179)	2.72018729
19	Distal lower limb amyotrophy (HP:0008944)	2.67801022
20	Exercise-induced myalgia (HP:0003738)	2.58524843
21	Abnormality of complement system (HP:0005339)	2.53740028
22	Rhabdomyolysis (HP:0003201)	2.51818153
23	Reticulocytosis (HP:0001923)	2.50879051
24	Hemorrhage of the eye (HP:0011885)	2.46780361
25	Increased serum pyruvate (HP:0003542)	2.46635421
26	Systemic lupus erythematosus (HP:0002725)	2.44738333
27	Cholelithiasis (HP:0001081)	2.38830537
28	Distal upper limb amyotrophy (HP:0007149)	2.36427134
29	Upper limb amyotrophy (HP:0009129)	2.36427134
30	Back pain (HP:0003418)	2.34863652
31	Insomnia (HP:0100785)	2.33440465
32	Aplasia/Hypoplasia of the sacrum (HP:0008517)	2.28748128
33	Ulnar bowing (HP:0003031)	2.28137062
34	Generalized amyotrophy (HP:0003700)	2.26365556
35	Xanthomatosis (HP:0000991)	2.24846542
36	Trismus (HP:0000211)	2.24655318
37	Complement deficiency (HP:0004431)	2.23396374
38	Bulbar palsy (HP:0001283)	2.21467949
39	Type 1 muscle fiber predominance (HP:0003803)	2.18962620
40	Abnormality of reticulocytes (HP:0004312)	2.14234160
41	Mildly elevated creatine phosphokinase (HP:0008180)	2.14168462
42	Stridor (HP:0010307)	2.08911500
43	Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)	2.07923765
44	Biconcave vertebral bodies (HP:0004586)	2.05796750
45	Hyperammonemia (HP:0001987)	2.05432637
46	Muscle fiber inclusion bodies (HP:0100299)	2.04036022
47	Abnormality of skeletal muscle fiber size (HP:0012084)	2.04029138
48	Testicular atrophy (HP:0000029)	2.02387600
49	Nemaline bodies (HP:0003798)	2.01288329
50	Short nail (HP:0001799)	2.00864569
51	Broad distal phalanx of finger (HP:0009836)	1.99642424
52	Increased variability in muscle fiber diameter (HP:0003557)	1.98725740
53	Abnormal gallbladder morphology (HP:0012437)	1.96300607
54	Prolonged partial thromboplastin time (HP:0003645)	1.94161845
55	Abnormality of long-chain fatty-acid metabolism (HP:0010964)	1.94138150
56	Abnormality of the distal phalanges of the toes (HP:0010182)	1.93908086
57	Abnormality of the thoracic spine (HP:0100711)	1.93838408
58	Round ear (HP:0100830)	1.92183744
59	Spinal rigidity (HP:0003306)	1.90181780
60	Muscle stiffness (HP:0003552)	1.89612934
61	Elbow flexion contracture (HP:0002987)	1.88103590
62	Abnormality of the gallbladder (HP:0005264)	1.87716881
63	Abnormality of the umbilical cord (HP:0010881)	1.81991966
64	Increased muscle lipid content (HP:0009058)	1.81939706
65	Myoglobinuria (HP:0002913)	1.81504807
66	Multiple enchondromatosis (HP:0005701)	1.78829070
67	Abnormality of cells of the erythroid lineage (HP:0012130)	1.78619100
68	Axonal loss (HP:0003447)	1.76908696
69	Abnormality of pyrimidine metabolism (HP:0004353)	1.76805820
70	Nonimmune hydrops fetalis (HP:0001790)	1.75723992
71	Thoracic kyphosis (HP:0002942)	1.75471890
72	Thin bony cortex (HP:0002753)	1.75267324
73	Hand muscle atrophy (HP:0009130)	1.74579103
74	Microvesicular hepatic steatosis (HP:0001414)	1.73644077
75	Rough bone trabeculation (HP:0100670)	1.72731330
76	Diaphragmatic weakness (HP:0009113)	1.72584791
77	Overriding aorta (HP:0002623)	1.72016066
78	Increased serum ferritin (HP:0003281)	1.71676098
79	Abnormality of the tricuspid valve (HP:0001702)	1.70947762
80	Prolonged neonatal jaundice (HP:0006579)	1.70901490
81	J-shaped sella turcica (HP:0002680)	1.70836245
82	Ulnar deviation of the wrist (HP:0003049)	1.70408482
83	Polygenic inheritance (HP:0010982)	1.68756290
84	Hyperparathyroidism (HP:0000843)	1.68633723
85	Reduced antithrombin III activity (HP:0001976)	1.68372639
86	Acanthosis nigricans (HP:0000956)	1.68221684
87	Long palpebral fissure (HP:0000637)	1.67238794
88	Gout (HP:0001997)	1.67189947
89	Multiple lipomas (HP:0001012)	1.64176311
90	Hypokinesia (HP:0002375)	1.64022176
91	Flat acetabular roof (HP:0003180)	1.63379460
92	Disproportionate tall stature (HP:0001519)	1.63332229
93	Asymmetric septal hypertrophy (HP:0001670)	1.62312432
94	Abnormality of glutamine family amino acid metabolism (HP:0010902)	1.61603238
95	Premature skin wrinkling (HP:0100678)	1.61600447
96	Hypertensive crisis (HP:0100735)	1.61291197
97	Hypercholesterolemia (HP:0003124)	1.60812422
98	Blue sclerae (HP:0000592)	1.60675635
99	Athetosis (HP:0002305)	1.60465226
100	Hypertriglyceridemia (HP:0002155)	1.60421685

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	TRIB3	4.73507160
2	NME2	4.21747910
3	SMG1	3.78301781
4	IRAK3	2.99491930
5	ERN1	2.92113274
6	EEF2K	2.67414514
7	SIK1	2.54879401
8	ICK	2.53198467
9	PRPF4B	2.38050290
10	TESK1	2.33937817
11	TESK2	2.06886382
12	VRK2	2.03677703
13	EPHA2	2.02617571
14	ARAF	1.90472868
15	TTN	1.90066628
16	MAP3K11	1.80222262
17	TAOK2	1.66335093
18	PIM2	1.63059336
19	PKN2	1.51021334
20	SCYL2	1.48208949
21	PAK4	1.39590828
22	RPS6KB2	1.38394348
23	BCKDK	1.34894830
24	BRAF	1.34443133
25	RIPK1	1.26357162
26	BUB1	1.20947568
27	LMTK2	1.20550643
28	LIMK1	1.18906592
29	STK16	1.10500819
30	FGFR4	1.09108997
31	AURKA	1.07701190
32	MAP3K10	1.07657613
33	MST1R	1.05586972
34	NEK1	1.04799075
35	MAPKAPK3	1.01089854
36	ILK	1.01014783
37	MAP2K3	0.99762729
38	DAPK3	0.98103426
39	MAP3K8	0.97414502
40	ABL2	0.95558763
41	LRRK2	0.93472443
42	PRKD3	0.91361354
43	CDK7	0.89033048
44	MAPK11	0.83804328
45	MTOR	0.82829348
46	CDK12	0.82271614
47	AKT2	0.81245031
48	MUSK	0.80078397
49	LATS2	0.78442634
50	MAP2K2	0.78407076
51	PTK2	0.76979074
52	PDPK1	0.76327028
53	BMX	0.72703997
54	PRKG2	0.72665479
55	PTK6	0.72514483
56	MAP3K1	0.71196315
57	KSR2	0.70846624
58	PBK	0.67358553
59	KDR	0.66338049
60	CDK8	0.65046511
61	PDGFRA	0.63644345
62	CDK4	0.63020532
63	EPHB2	0.62354379
64	TBK1	0.61430546
65	RPS6KA2	0.60684531
66	MAP3K3	0.59674768
67	CDC7	0.59370474
68	PRKCI	0.58455766
69	TTK	0.56882691
70	PRKD2	0.56722726
71	PAK1	0.53188318
72	CHEK2	0.52499075
73	AURKB	0.52015452
74	DAPK1	0.51505476
75	RPS6KC1	0.51249982
76	RPS6KL1	0.51249982
77	TAOK1	0.49108546
78	BRSK1	0.47867768
79	MARK2	0.47773400
80	CDK11A	0.47466113
81	IRAK2	0.46960428
82	NME1	0.46801311
83	CAMK2G	0.46489457
84	PHKG2	0.44126795
85	PHKG1	0.44126795
86	NEK2	0.43718680
87	CAMK1D	0.43450012
88	CDK15	0.42480939
89	PAK2	0.38981031
90	CDC42BPA	0.37707102
91	DDR2	0.37528530
92	PDK2	0.36876943
93	CCNB1	0.35709484
94	CDK18	0.35431604
95	CDK9	0.35170084
96	CDK14	0.34852098
97	MOS	0.34565610
98	STK4	0.34155369
99	EIF2AK1	0.30694082
100	CHEK1	0.30596409

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Sulfur relay system_Homo sapiens_hsa04122	3.47953872
2	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	3.31887146
3	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	3.25453887
4	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	3.14718761
5	Biosynthesis of amino acids_Homo sapiens_hsa01230	3.00693965
6	Cyanoamino acid metabolism_Homo sapiens_hsa00460	2.66624456
7	Pentose phosphate pathway_Homo sapiens_hsa00030	2.58862259
8	Fructose and mannose metabolism_Homo sapiens_hsa00051	2.45142943
9	Carbon metabolism_Homo sapiens_hsa01200	2.44789197
10	Arginine biosynthesis_Homo sapiens_hsa00220	2.25801708
11	Phenylalanine metabolism_Homo sapiens_hsa00360	2.25233332
12	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	2.14518137
13	DNA replication_Homo sapiens_hsa03030	2.06074837
14	Ribosome_Homo sapiens_hsa03010	2.03313936
15	Pyruvate metabolism_Homo sapiens_hsa00620	1.93682784
16	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.92847516
17	Galactose metabolism_Homo sapiens_hsa00052	1.87648055
18	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	1.73660612
19	Other glycan degradation_Homo sapiens_hsa00511	1.64932661
20	Base excision repair_Homo sapiens_hsa03410	1.63293665
21	Arginine and proline metabolism_Homo sapiens_hsa00330	1.59331641
22	Vitamin B6 metabolism_Homo sapiens_hsa00750	1.51258581
23	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	1.49758246
24	Prion diseases_Homo sapiens_hsa05020	1.48388362
25	Tyrosine metabolism_Homo sapiens_hsa00350	1.44528741
26	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.35643794
27	Central carbon metabolism in cancer_Homo sapiens_hsa05230	1.33261705
28	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.31635856
29	Fatty acid elongation_Homo sapiens_hsa00062	1.30294987
30	Fatty acid degradation_Homo sapiens_hsa00071	1.23714330
31	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	1.19568891
32	Drug metabolism - other enzymes_Homo sapiens_hsa00983	1.17918395
33	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	1.17385511
34	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	1.16560011
35	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.16026731
36	Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524	1.15267953
37	Complement and coagulation cascades_Homo sapiens_hsa04610	1.13660938
38	Bladder cancer_Homo sapiens_hsa05219	1.13476705
39	Sulfur metabolism_Homo sapiens_hsa00920	1.11745419
40	Folate biosynthesis_Homo sapiens_hsa00790	1.09570248
41	Glycosaminoglycan degradation_Homo sapiens_hsa00531	1.09438896
42	Glutathione metabolism_Homo sapiens_hsa00480	1.04934407
43	Pyrimidine metabolism_Homo sapiens_hsa00240	1.03717677
44	Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141	1.00767726
45	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.96530710
46	PPAR signaling pathway_Homo sapiens_hsa03320	0.94381683
47	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532	0.93670132
48	Fatty acid metabolism_Homo sapiens_hsa01212	0.93460944
49	One carbon pool by folate_Homo sapiens_hsa00670	0.88656342
50	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.83583746
51	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.78942735
52	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.75714403
53	Insulin signaling pathway_Homo sapiens_hsa04910	0.72590321
54	Mismatch repair_Homo sapiens_hsa03430	0.72530077
55	AMPK signaling pathway_Homo sapiens_hsa04152	0.72327854
56	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.72214696
57	Chronic myeloid leukemia_Homo sapiens_hsa05220	0.69047249
58	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.67536741
59	Vibrio cholerae infection_Homo sapiens_hsa05110	0.67519531
60	Acute myeloid leukemia_Homo sapiens_hsa05221	0.65650488
61	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.64505639
62	Thyroid cancer_Homo sapiens_hsa05216	0.63765345
63	Fat digestion and absorption_Homo sapiens_hsa04975	0.59075258
64	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	0.57814136
65	Bile secretion_Homo sapiens_hsa04976	0.57662326
66	Metabolic pathways_Homo sapiens_hsa01100	0.54713052
67	Histidine metabolism_Homo sapiens_hsa00340	0.54018727
68	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.53031853
69	Nucleotide excision repair_Homo sapiens_hsa03420	0.50577458
70	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.50176383
71	Lysine degradation_Homo sapiens_hsa00310	0.50022717
72	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.49374051
73	Spliceosome_Homo sapiens_hsa03040	0.49009293
74	Retinol metabolism_Homo sapiens_hsa00830	0.48935585
75	Lysosome_Homo sapiens_hsa04142	0.48254186
76	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.47158946
77	beta-Alanine metabolism_Homo sapiens_hsa00410	0.46416971
78	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.43739564
79	Non-small cell lung cancer_Homo sapiens_hsa05223	0.43514816
80	Adipocytokine signaling pathway_Homo sapiens_hsa04920	0.43074615
81	Peroxisome_Homo sapiens_hsa04146	0.42835900
82	Insulin resistance_Homo sapiens_hsa04931	0.41372844
83	Chemical carcinogenesis_Homo sapiens_hsa05204	0.41142479
84	Glucagon signaling pathway_Homo sapiens_hsa04922	0.40470238
85	VEGF signaling pathway_Homo sapiens_hsa04370	0.40045438
86	Notch signaling pathway_Homo sapiens_hsa04330	0.38927350
87	Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014	0.38733902
88	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.38574773
89	Pancreatic cancer_Homo sapiens_hsa05212	0.35773809
90	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.33720753
91	Bacterial invasion of epithelial cells_Homo sapiens_hsa05100	0.33341035
92	Viral carcinogenesis_Homo sapiens_hsa05203	0.32984931
93	Renin-angiotensin system_Homo sapiens_hsa04614	0.32897473
94	Alcoholism_Homo sapiens_hsa05034	0.30776490
95	Huntingtons disease_Homo sapiens_hsa05016	0.30700368
96	Proteasome_Homo sapiens_hsa03050	0.30452104
97	Steroid biosynthesis_Homo sapiens_hsa00100	0.30232553
98	Cell cycle_Homo sapiens_hsa04110	0.28467745
99	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.26846747
100	Apoptosis_Homo sapiens_hsa04210	0.26425486

ISOC2

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)

Most similar genes based on co-expression Upload to Enrichr

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