ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	DNA deamination (GO:0045006)	5.64706354
2	response to pheromone (GO:0019236)	3.94222338
3	protein complex biogenesis (GO:0070271)	3.91391452
4	preassembly of GPI anchor in ER membrane (GO:0016254)	3.81434768
5	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.80841566
6	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.80841566
7	NADH dehydrogenase complex assembly (GO:0010257)	3.80841566
8	* mismatch repair (GO:0006298)	3.80221268
9	rRNA modification (GO:0000154)	3.75278130
10	mitochondrial respiratory chain complex assembly (GO:0033108)	3.75058837
11	protein deneddylation (GO:0000338)	3.58427820
12	mannosylation (GO:0097502)	3.58047262
13	aggressive behavior (GO:0002118)	3.57595458
14	cullin deneddylation (GO:0010388)	3.54152801
15	metallo-sulfur cluster assembly (GO:0031163)	3.53103534
16	iron-sulfur cluster assembly (GO:0016226)	3.53103534
17	respiratory chain complex IV assembly (GO:0008535)	3.51846332
18	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	3.44714524
19	rRNA methylation (GO:0031167)	3.42106482
20	platelet dense granule organization (GO:0060155)	3.41508399
21	cytidine metabolic process (GO:0046087)	3.38631157
22	cytidine catabolic process (GO:0006216)	3.38631157
23	cytidine deamination (GO:0009972)	3.38631157
24	proteasome assembly (GO:0043248)	3.36255067
25	branched-chain amino acid catabolic process (GO:0009083)	3.34771009
26	regulation of cellular amino acid metabolic process (GO:0006521)	3.31708533
27	seminiferous tubule development (GO:0072520)	3.31001187
28	GPI anchor biosynthetic process (GO:0006506)	3.30249466
29	Arp2/3 complex-mediated actin nucleation (GO:0034314)	3.28246836
30	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	3.27749560
31	protein-cofactor linkage (GO:0018065)	3.25403492
32	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	3.23887511
33	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	3.23887511
34	GPI anchor metabolic process (GO:0006505)	3.22647498
35	regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091	3.20336768
36	protein neddylation (GO:0045116)	3.19860010
37	cytochrome complex assembly (GO:0017004)	3.18082442
38	purine deoxyribonucleotide catabolic process (GO:0009155)	3.12105215
39	negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)	3.11237044
40	negative regulation of telomere maintenance (GO:0032205)	3.10900254
41	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	3.10440049
42	somatic hypermutation of immunoglobulin genes (GO:0016446)	3.10296911
43	somatic diversification of immune receptors via somatic mutation (GO:0002566)	3.10296911
44	mitochondrial RNA metabolic process (GO:0000959)	3.06057553
45	pyrimidine ribonucleoside catabolic process (GO:0046133)	3.05977018
46	maturation of 5.8S rRNA (GO:0000460)	3.05973926
47	DNA double-strand break processing (GO:0000729)	3.05368439
48	C-terminal protein lipidation (GO:0006501)	3.04295725
49	adenosine metabolic process (GO:0046085)	2.98378574
50	deoxyribonucleotide catabolic process (GO:0009264)	2.98298240
51	ubiquinone biosynthetic process (GO:0006744)	2.97614370
52	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	2.94876044
53	positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)	2.94629926
54	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	2.93294974
55	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:00	2.92396423
56	positive regulation of prostaglandin secretion (GO:0032308)	2.91977121
57	oxidative phosphorylation (GO:0006119)	2.91414743
58	actin nucleation (GO:0045010)	2.91051633
59	ubiquinone metabolic process (GO:0006743)	2.89322185
60	base-excision repair, AP site formation (GO:0006285)	2.88957486
61	branched-chain amino acid metabolic process (GO:0009081)	2.84508418
62	deoxyribose phosphate catabolic process (GO:0046386)	2.84136645
63	signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)	2.83903613
64	signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)	2.83903613
65	signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)	2.83903613
66	intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)	2.83190696
67	signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)	2.83190696
68	C-terminal protein amino acid modification (GO:0018410)	2.82939449
69	purine deoxyribonucleoside triphosphate metabolic process (GO:0009215)	2.81017220
70	purine deoxyribonucleotide metabolic process (GO:0009151)	2.80935287
71	energy coupled proton transport, down electrochemical gradient (GO:0015985)	2.78959859
72	ATP synthesis coupled proton transport (GO:0015986)	2.78959859
73	regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	2.78114069
74	S-adenosylmethionine metabolic process (GO:0046500)	2.78090790
75	chaperone-mediated protein transport (GO:0072321)	2.78065342
76	negative regulation of ligase activity (GO:0051352)	2.76907893
77	negative regulation of ubiquitin-protein transferase activity (GO:0051444)	2.76907893
78	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	2.75962281
79	DNA integration (GO:0015074)	2.73737156
80	aldehyde catabolic process (GO:0046185)	2.73634292
81	pyrimidine deoxyribonucleotide catabolic process (GO:0009223)	2.72771627
82	signal transduction involved in cell cycle checkpoint (GO:0072395)	2.69022637
83	peptidyl-histidine modification (GO:0018202)	2.68614901
84	pseudouridine synthesis (GO:0001522)	2.66787043
85	deoxyribonucleoside triphosphate metabolic process (GO:0009200)	2.65735918
86	GMP metabolic process (GO:0046037)	2.65732576
87	glycolipid biosynthetic process (GO:0009247)	2.65695725
88	signal transduction involved in DNA damage checkpoint (GO:0072422)	2.65218619
89	signal transduction involved in DNA integrity checkpoint (GO:0072401)	2.65218619
90	DNA damage response, detection of DNA damage (GO:0042769)	2.64808360
91	succinate metabolic process (GO:0006105)	2.64738651
92	histone H2A acetylation (GO:0043968)	2.63733335
93	water-soluble vitamin biosynthetic process (GO:0042364)	2.63370044
94	2-deoxyribonucleotide metabolic process (GO:0009394)	2.61230265
95	positive regulation of ubiquitin-protein transferase activity (GO:0051443)	2.60895925
96	regulation of mitochondrial translation (GO:0070129)	2.60884881
97	tRNA processing (GO:0008033)	2.60243093
98	respiratory electron transport chain (GO:0022904)	2.59786253
99	amino acid salvage (GO:0043102)	2.58876283
100	L-methionine biosynthetic process (GO:0071265)	2.58876283

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	4.46727715
2	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	4.01291863
3	GABP_17652178_ChIP-ChIP_JURKAT_Human	3.83898050
4	ZNF274_21170338_ChIP-Seq_K562_Hela	3.46309665
5	EST1_17652178_ChIP-ChIP_JURKAT_Human	3.42719726
6	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	3.36214132
7	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	3.35120663
8	ELF1_17652178_ChIP-ChIP_JURKAT_Human	3.24779187
9	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	3.21856352
10	IGF1R_20145208_ChIP-Seq_DFB_Human	2.80549142
11	VDR_23849224_ChIP-Seq_CD4+_Human	2.73395709
12	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.72961562
13	SRF_21415370_ChIP-Seq_HL-1_Mouse	2.55245403
14	VDR_22108803_ChIP-Seq_LS180_Human	2.39537615
15	FOXP3_21729870_ChIP-Seq_TREG_Human	2.29835811
16	CREB1_15753290_ChIP-ChIP_HEK293T_Human	2.27194520
17	ELK1_19687146_ChIP-ChIP_HELA_Human	2.13790912
18	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	2.13166614
19	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	2.09749899
20	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.08980441
21	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.96467280
22	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.95472522
23	MYC_18940864_ChIP-ChIP_HL60_Human	1.80746147
24	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	1.78188059
25	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.74005965
26	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.68721126
27	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.68303298
28	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.67410642
29	GABP_19822575_ChIP-Seq_HepG2_Human	1.66398563
30	EWS_26573619_Chip-Seq_HEK293_Human	1.66119042
31	IRF1_19129219_ChIP-ChIP_H3396_Human	1.65229305
32	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.63171697
33	DCP1A_22483619_ChIP-Seq_HELA_Human	1.61487706
34	CIITA_25753668_ChIP-Seq_RAJI_Human	1.61416090
35	IRF8_22096565_ChIP-ChIP_GC-B_Mouse	1.60366144
36	TP53_22573176_ChIP-Seq_HFKS_Human	1.59046306
37	BP1_19119308_ChIP-ChIP_Hs578T_Human	1.58531736
38	FUS_26573619_Chip-Seq_HEK293_Human	1.57649110
39	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.57089165
40	IRF8_22096565_ChIP-ChIP_GC-B_Human	1.55810342
41	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.53513485
42	HOXB4_20404135_ChIP-ChIP_EML_Mouse	1.52435411
43	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.50018851
44	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	1.44488588
45	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.43069277
46	GBX2_23144817_ChIP-Seq_PC3_Human	1.42080857
47	MYC_18555785_ChIP-Seq_MESCs_Mouse	1.41105557
48	TAF15_26573619_Chip-Seq_HEK293_Human	1.38360745
49	FLI1_20887958_ChIP-Seq_HPC-7_Mouse	1.36211559
50	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.36181838
51	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	1.34901455
52	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.27780572
53	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.24832169
54	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.24660429
55	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	1.23786236
56	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.23621850
57	E2F1_18555785_ChIP-Seq_MESCs_Mouse	1.23544068
58	EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse	1.23152308
59	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.20183934
60	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.16983846
61	SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse	1.16582014
62	ER_23166858_ChIP-Seq_MCF-7_Human	1.15783181
63	GATA3_26560356_Chip-Seq_TH2_Human	1.15501993
64	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.13579548
65	P300_19829295_ChIP-Seq_ESCs_Human	1.12526897
66	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.11790834
67	ELK1_22589737_ChIP-Seq_MCF10A_Human	1.10379487
68	AR_20517297_ChIP-Seq_VCAP_Human	1.10313220
69	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	1.09411292
70	FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	1.09253091
71	IRF1_21803131_ChIP-Seq_MONOCYTES_Human	1.08925676
72	YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	1.08494285
73	TTF2_22483619_ChIP-Seq_HELA_Human	1.08187786
74	MYC_19030024_ChIP-ChIP_MESCs_Mouse	1.08180736
75	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.06587509
76	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.06587509
77	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	1.06383036
78	CBP_20019798_ChIP-Seq_JUKART_Human	1.06056886
79	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.06056886
80	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.04385645
81	NCOR_22424771_ChIP-Seq_293T_Human	1.03362040
82	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	1.02422093
83	PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse	1.02219357
84	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	1.02187507
85	SPI1_22096565_ChIP-ChIP_GC-B_Mouse	0.97049560
86	NANOG_19829295_ChIP-Seq_ESCs_Human	0.95278707
87	SOX2_19829295_ChIP-Seq_ESCs_Human	0.95278707
88	IRF8_21731497_ChIP-ChIP_J774_Mouse	0.95113181
89	ERG_20517297_ChIP-Seq_VCAP_Human	0.95045787
90	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	0.94541861
91	NELFA_20434984_ChIP-Seq_ESCs_Mouse	0.94369814
92	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	0.93660702
93	BCL3_23251550_ChIP-Seq_MUSCLE_Mouse	0.93236295
94	KDM5A_27292631_Chip-Seq_BREAST_Human	0.92615657
95	FOXA1_21572438_ChIP-Seq_LNCaP_Human	0.92186652
96	GATA3_21878914_ChIP-Seq_MCF-7_Human	0.89686214
97	XRN2_22483619_ChIP-Seq_HELA_Human	0.88902513
98	NANOG_20526341_ChIP-Seq_ESCs_Human	0.86179279
99	POU5F1_18358816_ChIP-ChIP_MESCs_Mouse	0.83625847
100	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	0.83145121

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002102_abnormal_ear_morphology	3.44772780
2	MP0004147_increased_porphyrin_level	3.12118610
3	MP0008877_abnormal_DNA_methylation	3.04071801
4	MP0005645_abnormal_hypothalamus_physiol	2.89357937
5	MP0008058_abnormal_DNA_repair	2.87619506
6	MP0001529_abnormal_vocalization	2.82005829
7	MP0006072_abnormal_retinal_apoptosis	2.25772685
8	MP0002736_abnormal_nociception_after	2.14295335
9	MP0003880_abnormal_central_pattern	2.14130712
10	MP0009697_abnormal_copulation	2.13800034
11	MP0008875_abnormal_xenobiotic_pharmacok	2.06712319
12	MP0000372_irregular_coat_pigmentation	2.06565113
13	MP0006035_abnormal_mitochondrial_morpho	2.01427499
14	MP0001968_abnormal_touch/_nociception	2.00236274
15	MP0006292_abnormal_olfactory_placode	1.94584220
16	MP0003718_maternal_effect	1.92836153
17	MP0003786_premature_aging	1.88974857
18	MP0008789_abnormal_olfactory_epithelium	1.88802167
19	MP0006036_abnormal_mitochondrial_physio	1.88521316
20	MP0001984_abnormal_olfaction	1.80943332
21	MP0005253_abnormal_eye_physiology	1.72969257
22	MP0005551_abnormal_eye_electrophysiolog	1.72473966
23	MP0001835_abnormal_antigen_presentation	1.70744694
24	MP0005646_abnormal_pituitary_gland	1.65238272
25	MP0005084_abnormal_gallbladder_morpholo	1.64563423
26	MP0001764_abnormal_homeostasis	1.63677984
27	MP0003195_calcinosis	1.62348614
28	MP0006276_abnormal_autonomic_nervous	1.62135175
29	MP0005499_abnormal_olfactory_system	1.59644895
30	MP0005394_taste/olfaction_phenotype	1.59644895
31	MP0003186_abnormal_redox_activity	1.57227783
32	MP0008872_abnormal_physiological_respon	1.55530763
33	MP0008995_early_reproductive_senescence	1.55101842
34	MP0003693_abnormal_embryo_hatching	1.51335696
35	MP0001905_abnormal_dopamine_level	1.49558130
36	MP0003806_abnormal_nucleotide_metabolis	1.46879420
37	MP0003787_abnormal_imprinting	1.45332497
38	MP0005410_abnormal_fertilization	1.43008464
39	MP0010094_abnormal_chromosome_stability	1.42906675
40	MP0003011_delayed_dark_adaptation	1.41607237
41	MP0002234_abnormal_pharynx_morphology	1.40950778
42	MP0009046_muscle_twitch	1.39578119
43	MP0002148_abnormal_hypersensitivity_rea	1.24311277
44	MP0002132_abnormal_respiratory_system	1.21819011
45	MP0003122_maternal_imprinting	1.21008511
46	MP0000358_abnormal_cell_content/	1.16884904
47	MP0005671_abnormal_response_to	1.16182830
48	MP0004145_abnormal_muscle_electrophysio	1.15571558
49	MP0005075_abnormal_melanosome_morpholog	1.10451502
50	MP0005367_renal/urinary_system_phenotyp	1.07689490
51	MP0000516_abnormal_urinary_system	1.07689490
52	MP0002733_abnormal_thermal_nociception	1.04999133
53	MP0001986_abnormal_taste_sensitivity	1.03834356
54	MP0004142_abnormal_muscle_tone	1.03813472
55	MP0000465_gastrointestinal_hemorrhage	1.03618408
56	MP0009764_decreased_sensitivity_to	1.03305133
57	MP0001929_abnormal_gametogenesis	1.03031848
58	MP0001501_abnormal_sleep_pattern	1.02159322
59	MP0003656_abnormal_erythrocyte_physiolo	0.99760702
60	MP0002272_abnormal_nervous_system	0.97312084
61	MP0005423_abnormal_somatic_nervous	0.97147705
62	MP0005332_abnormal_amino_acid	0.95271844
63	MP0010386_abnormal_urinary_bladder	0.94500444
64	MP0009745_abnormal_behavioral_response	0.92432475
65	MP0009785_altered_susceptibility_to	0.91315843
66	MP0000689_abnormal_spleen_morphology	0.88046035
67	MP0001800_abnormal_humoral_immune	0.87704650
68	MP0004043_abnormal_pH_regulation	0.86880248
69	MP0001970_abnormal_pain_threshold	0.86727818
70	MP0002557_abnormal_social/conspecific_i	0.86270357
71	MP0003698_abnormal_male_reproductive	0.86258283
72	MP0002822_catalepsy	0.85850956
73	MP0005636_abnormal_mineral_homeostasis	0.83694756
74	MP0002735_abnormal_chemical_nociception	0.82719050
75	MP0008932_abnormal_embryonic_tissue	0.81989660
76	MP0005000_abnormal_immune_tolerance	0.81647084
77	MP0004133_heterotaxia	0.81115362
78	MP0000631_abnormal_neuroendocrine_gland	0.81009243
79	MP0002876_abnormal_thyroid_physiology	0.79301553
80	MP0005266_abnormal_metabolism	0.79231043
81	MP0005389_reproductive_system_phenotype	0.77797139
82	MP0002723_abnormal_immune_serum	0.76470580
83	MP0002837_dystrophic_cardiac_calcinosis	0.76004037
84	MP0003121_genomic_imprinting	0.75941803
85	MP0006054_spinal_hemorrhage	0.75820983
86	MP0002653_abnormal_ependyma_morphology	0.74229247
87	MP0002019_abnormal_tumor_incidence	0.73830092
88	MP0002572_abnormal_emotion/affect_behav	0.72730158
89	MP0001119_abnormal_female_reproductive	0.70898069
90	MP0000685_abnormal_immune_system	0.70745575
91	MP0005395_other_phenotype	0.70732602
92	MP0001661_extended_life_span	0.70337564
93	MP0008007_abnormal_cellular_replicative	0.69606166
94	MP0002751_abnormal_autonomic_nervous	0.67615372
95	MP0003724_increased_susceptibility_to	0.67587092
96	MP0000653_abnormal_sex_gland	0.67092906
97	MP0009765_abnormal_xenobiotic_induced	0.66484553
98	MP0005379_endocrine/exocrine_gland_phen	0.66264631
99	MP0003111_abnormal_nucleus_morphology	0.65946700
100	MP0003252_abnormal_bile_duct	0.64464226

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Acute necrotizing encephalopathy (HP:0006965)	4.35784677
2	Abnormal mitochondria in muscle tissue (HP:0008316)	4.30533767
3	Hepatocellular necrosis (HP:0001404)	4.28555878
4	Mitochondrial inheritance (HP:0001427)	4.21890783
5	Acute encephalopathy (HP:0006846)	3.96864098
6	Hepatic necrosis (HP:0002605)	3.95923933
7	Increased CSF lactate (HP:0002490)	3.89054778
8	Progressive macrocephaly (HP:0004481)	3.65362391
9	Decreased central vision (HP:0007663)	3.34489838
10	Abolished electroretinogram (ERG) (HP:0000550)	3.22951802
11	Cerebral edema (HP:0002181)	3.21303778
12	Decreased electroretinogram (ERG) amplitude (HP:0000654)	3.03620162
13	Increased hepatocellular lipid droplets (HP:0006565)	3.00645936
14	Increased intramyocellular lipid droplets (HP:0012240)	2.97865080
15	Increased serum lactate (HP:0002151)	2.93110193
16	Lactic acidosis (HP:0003128)	2.92879665
17	Lipid accumulation in hepatocytes (HP:0006561)	2.91448167
18	Type I transferrin isoform profile (HP:0003642)	2.88165383
19	Pancreatic fibrosis (HP:0100732)	2.86621239
20	Amyotrophic lateral sclerosis (HP:0007354)	2.81305794
21	Pancreatic cysts (HP:0001737)	2.81104081
22	Abnormal protein glycosylation (HP:0012346)	2.77727366
23	Abnormal glycosylation (HP:0012345)	2.77727366
24	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	2.77727366
25	Abnormal protein N-linked glycosylation (HP:0012347)	2.77727366
26	True hermaphroditism (HP:0010459)	2.72672272
27	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	2.72149093
28	Decreased activity of mitochondrial respiratory chain (HP:0008972)	2.72149093
29	Degeneration of anterior horn cells (HP:0002398)	2.70415738
30	Abnormality of the anterior horn cell (HP:0006802)	2.70415738
31	Abnormality of aspartate family amino acid metabolism (HP:0010899)	2.67033709
32	Microvesicular hepatic steatosis (HP:0001414)	2.58579617
33	Renal Fanconi syndrome (HP:0001994)	2.55107439
34	Methylmalonic acidemia (HP:0002912)	2.52424876
35	Attenuation of retinal blood vessels (HP:0007843)	2.51901971
36	Increased muscle lipid content (HP:0009058)	2.51222285
37	Medial flaring of the eyebrow (HP:0010747)	2.49182617
38	Atrophy/Degeneration involving motor neurons (HP:0007373)	2.45268424
39	Increased serum pyruvate (HP:0003542)	2.41894548
40	Exercise intolerance (HP:0003546)	2.39069706
41	Nephronophthisis (HP:0000090)	2.37949655
42	3-Methylglutaconic aciduria (HP:0003535)	2.36914395
43	Respiratory failure (HP:0002878)	2.33034889
44	Reduced antithrombin III activity (HP:0001976)	2.32651560
45	Optic disc pallor (HP:0000543)	2.31876921
46	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.31477484
47	Abnormality of alanine metabolism (HP:0010916)	2.31477484
48	Hyperalaninemia (HP:0003348)	2.31477484
49	Severe combined immunodeficiency (HP:0004430)	2.29421597
50	Lethargy (HP:0001254)	2.28548655
51	Colon cancer (HP:0003003)	2.27421495
52	Aplastic anemia (HP:0001915)	2.27223190
53	Molar tooth sign on MRI (HP:0002419)	2.26519155
54	Abnormality of midbrain morphology (HP:0002418)	2.26519155
55	Short tibia (HP:0005736)	2.25264109
56	Increased corneal curvature (HP:0100692)	2.24904748
57	Keratoconus (HP:0000563)	2.24904748
58	Abnormality of serum amino acid levels (HP:0003112)	2.22855826
59	Methylmalonic aciduria (HP:0012120)	2.19072165
60	CNS demyelination (HP:0007305)	2.17232448
61	Abnormality of glycolysis (HP:0004366)	2.16150375
62	Elevated erythrocyte sedimentation rate (HP:0003565)	2.16006603
63	Abnormality of dicarboxylic acid metabolism (HP:0010995)	2.16004377
64	Dicarboxylic aciduria (HP:0003215)	2.16004377
65	Abnormality of macular pigmentation (HP:0008002)	2.15563626
66	Emotional lability (HP:0000712)	2.14323596
67	Congenital stationary night blindness (HP:0007642)	2.12762085
68	Retinal dysplasia (HP:0007973)	2.11586528
69	Panhypogammaglobulinemia (HP:0003139)	2.06966631
70	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.04966995
71	Type II lissencephaly (HP:0007260)	2.04051113
72	Renal cortical cysts (HP:0000803)	2.03934574
73	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.03704771
74	Abnormal rod and cone electroretinograms (HP:0008323)	2.03392284
75	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	2.03003404
76	Bile duct proliferation (HP:0001408)	2.01038859
77	Abnormal biliary tract physiology (HP:0012439)	2.01038859
78	Progressive inability to walk (HP:0002505)	2.00176604
79	Abnormality of the heme biosynthetic pathway (HP:0010472)	1.99618599
80	Type 2 muscle fiber atrophy (HP:0003554)	1.98665495
81	Ependymoma (HP:0002888)	1.98420208
82	IgG deficiency (HP:0004315)	1.98366916
83	Gonadotropin excess (HP:0000837)	1.98200006
84	Congenital primary aphakia (HP:0007707)	1.97364230
85	Hypothermia (HP:0002045)	1.96089563
86	Inability to walk (HP:0002540)	1.93631783
87	Gait imbalance (HP:0002141)	1.93629987
88	Ketosis (HP:0001946)	1.93579367
89	Hyperglycinuria (HP:0003108)	1.91327464
90	Abnormality of B cell number (HP:0010975)	1.91243259
91	Muscle abnormality related to mitochondrial dysfunction (HP:0003800)	1.89843486
92	Ketoacidosis (HP:0001993)	1.84544768
93	Abnormality of the renal medulla (HP:0100957)	1.81332418
94	Postaxial foot polydactyly (HP:0001830)	1.81166966
95	Abnormality of methionine metabolism (HP:0010901)	1.80391439
96	Nephrogenic diabetes insipidus (HP:0009806)	1.78484325
97	Chronic hepatic failure (HP:0100626)	1.76820635
98	Abnormality of glycine metabolism (HP:0010895)	1.75035522
99	Abnormality of serine family amino acid metabolism (HP:0010894)	1.75035522
100	Hyperglycinemia (HP:0002154)	1.73811042

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	MAP4K2	4.26523313
2	VRK2	3.65231461
3	TAOK3	3.47202992
4	EIF2AK3	2.87404983
5	NUAK1	2.87066083
6	BCKDK	2.81066631
7	SRPK1	2.20783677
8	CSNK1G3	2.13602716
9	EIF2AK1	1.99792188
10	MST4	1.89688139
11	KDR	1.89602437
12	BCR	1.83196748
13	CSNK1A1L	1.80274029
14	TRIM28	1.78224382
15	BUB1	1.77632423
16	MAP2K7	1.72819895
17	VRK1	1.72005485
18	CSNK1G2	1.70300237
19	MAP3K4	1.70197476
20	CSNK1G1	1.62244730
21	MAPK13	1.50050011
22	DAPK1	1.46507236
23	FRK	1.42040957
24	NME1	1.41943009
25	ADRBK2	1.37419084
26	TXK	1.29513030
27	PIM2	1.29047964
28	PLK2	1.28136228
29	PINK1	1.26433764
30	CCNB1	1.24307852
31	WNK3	1.18820345
32	KIT	1.18129367
33	GRK1	1.17976808
34	PLK4	1.15780144
35	TAF1	1.14806341
36	DYRK2	1.14330760
37	MAP4K1	1.13854637
38	ERBB3	1.08486926
39	MAPKAPK3	1.07907946
40	PDK2	1.06911740
41	ZAK	1.04294195
42	NEK1	1.04057609
43	MKNK1	1.04054381
44	IKBKB	1.01288203
45	FLT3	1.00899652
46	GRK5	1.00828353
47	TESK2	1.00312102
48	LIMK1	1.00249352
49	MAP3K12	0.99657716
50	CDK19	0.94310590
51	EIF2AK2	0.86913987
52	SYK	0.85161675
53	RPS6KA4	0.82648264
54	PLK3	0.80759958
55	STK16	0.77434175
56	MAPKAPK5	0.76245424
57	TEC	0.72724444
58	CDC7	0.72692232
59	PHKG1	0.70888066
60	PHKG2	0.70888066
61	INSRR	0.69610121
62	MUSK	0.69311798
63	ATR	0.67913548
64	CLK1	0.67605442
65	TIE1	0.66852526
66	MAP3K5	0.66549377
67	TBK1	0.66046170
68	RPS6KA5	0.65866453
69	BMPR1B	0.64578605
70	PRKCE	0.61232086
71	PAK3	0.59699547
72	CASK	0.59463461
73	ITK	0.55263210
74	TESK1	0.54930622
75	OXSR1	0.54233961
76	GRK6	0.53246979
77	IKBKE	0.52569508
78	PRKCQ	0.51051226
79	BMPR2	0.49097670
80	PBK	0.47698331
81	CSNK1A1	0.47056198
82	TSSK6	0.46749095
83	PIK3CA	0.46544262
84	CSF1R	0.45283726
85	NME2	0.45129169
86	LYN	0.44856881
87	PLK1	0.44520778
88	CDK8	0.43875680
89	MINK1	0.43425047
90	CSNK2A1	0.39516038
91	CSNK2A2	0.36824212
92	CAMK2A	0.36437106
93	TLK1	0.36237643
94	PRKCG	0.34769083
95	CAMK2D	0.33188029
96	LCK	0.33149159
97	MARK1	0.32480716
98	BTK	0.31890820
99	PRKACA	0.31615384
100	TNK2	0.30469486

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Proteasome_Homo sapiens_hsa03050	3.82113743
2	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	3.11173896
3	Protein export_Homo sapiens_hsa03060	3.10590904
4	Oxidative phosphorylation_Homo sapiens_hsa00190	2.69873773
5	RNA polymerase_Homo sapiens_hsa03020	2.58257482
6	Parkinsons disease_Homo sapiens_hsa05012	2.46884931
7	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	2.02405414
8	Propanoate metabolism_Homo sapiens_hsa00640	1.95969160
9	Non-homologous end-joining_Homo sapiens_hsa03450	1.91939291
10	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.90624833
11	Asthma_Homo sapiens_hsa05310	1.88852506
12	Base excision repair_Homo sapiens_hsa03410	1.88748907
13	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.83144079
14	Peroxisome_Homo sapiens_hsa04146	1.81547222
15	Butanoate metabolism_Homo sapiens_hsa00650	1.71546546
16	Mismatch repair_Homo sapiens_hsa03430	1.70393828
17	Fanconi anemia pathway_Homo sapiens_hsa03460	1.66755243
18	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.64475556
19	Type I diabetes mellitus_Homo sapiens_hsa04940	1.63695148
20	RNA degradation_Homo sapiens_hsa03018	1.63483617
21	Fatty acid elongation_Homo sapiens_hsa00062	1.63432747
22	Phototransduction_Homo sapiens_hsa04744	1.61919498
23	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.61169132
24	Homologous recombination_Homo sapiens_hsa03440	1.60543354
25	Allograft rejection_Homo sapiens_hsa05330	1.52541496
26	Huntingtons disease_Homo sapiens_hsa05016	1.52394701
27	Pyrimidine metabolism_Homo sapiens_hsa00240	1.48414894
28	Primary immunodeficiency_Homo sapiens_hsa05340	1.46783241
29	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.46694484
30	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.45495811
31	Graft-versus-host disease_Homo sapiens_hsa05332	1.43956278
32	One carbon pool by folate_Homo sapiens_hsa00670	1.43750556
33	Alzheimers disease_Homo sapiens_hsa05010	1.41319751
34	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	1.40364898
35	Autoimmune thyroid disease_Homo sapiens_hsa05320	1.33136441
36	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.32792543
37	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.30315878
38	Purine metabolism_Homo sapiens_hsa00230	1.26863601
39	DNA replication_Homo sapiens_hsa03030	1.24355029
40	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.23987514
41	Spliceosome_Homo sapiens_hsa03040	1.20019893
42	Nucleotide excision repair_Homo sapiens_hsa03420	1.19373043
43	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	1.15638004
44	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	1.12242394
45	Basal transcription factors_Homo sapiens_hsa03022	1.11149674
46	Steroid biosynthesis_Homo sapiens_hsa00100	1.09820089
47	RNA transport_Homo sapiens_hsa03013	1.09492106
48	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	1.08855596
49	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.07356565
50	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.97843924
51	Rheumatoid arthritis_Homo sapiens_hsa05323	0.97786674
52	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.97597426
53	Linoleic acid metabolism_Homo sapiens_hsa00591	0.97581885
54	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.97388353
55	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.97217965
56	Collecting duct acid secretion_Homo sapiens_hsa04966	0.93639478
57	Carbon metabolism_Homo sapiens_hsa01200	0.92924231
58	Metabolic pathways_Homo sapiens_hsa01100	0.84984289
59	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.80007919
60	Antigen processing and presentation_Homo sapiens_hsa04612	0.79770390
61	Pyruvate metabolism_Homo sapiens_hsa00620	0.79266930
62	Olfactory transduction_Homo sapiens_hsa04740	0.77655422
63	beta-Alanine metabolism_Homo sapiens_hsa00410	0.76621475
64	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.75591468
65	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.72931672
66	Tryptophan metabolism_Homo sapiens_hsa00380	0.72871867
67	Fatty acid metabolism_Homo sapiens_hsa01212	0.72602699
68	Ether lipid metabolism_Homo sapiens_hsa00565	0.70016765
69	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.69756808
70	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.68303297
71	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	0.67432658
72	Nitrogen metabolism_Homo sapiens_hsa00910	0.65657860
73	Cardiac muscle contraction_Homo sapiens_hsa04260	0.65388274
74	Caffeine metabolism_Homo sapiens_hsa00232	0.64479239
75	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.64236322
76	Folate biosynthesis_Homo sapiens_hsa00790	0.64163856
77	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.63826047
78	Glutathione metabolism_Homo sapiens_hsa00480	0.60107586
79	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.58713037
80	Regulation of autophagy_Homo sapiens_hsa04140	0.54945944
81	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.54772099
82	RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622	0.52162225
83	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.48151989
84	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.47169481
85	Chemical carcinogenesis_Homo sapiens_hsa05204	0.46489596
86	Viral myocarditis_Homo sapiens_hsa05416	0.46295216
87	Retinol metabolism_Homo sapiens_hsa00830	0.44473376
88	Oocyte meiosis_Homo sapiens_hsa04114	0.44282764
89	Hematopoietic cell lineage_Homo sapiens_hsa04640	0.43788863
90	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.42550580
91	Ribosome_Homo sapiens_hsa03010	0.37368567
92	Sulfur relay system_Homo sapiens_hsa04122	0.37199531
93	Taste transduction_Homo sapiens_hsa04742	0.36712049
94	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.36624114
95	Fatty acid degradation_Homo sapiens_hsa00071	0.36255307
96	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	0.35504971
97	Epstein-Barr virus infection_Homo sapiens_hsa05169	0.33938138
98	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.33790862
99	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.33341736
100	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.33328056

PMS2P5

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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