ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	signal peptide processing (GO:0006465)	5.72128959
2	cell wall macromolecule catabolic process (GO:0016998)	5.37376807
3	regulation of attachment of spindle microtubules to kinetochore (GO:0051988)	5.36027212
4	water-soluble vitamin biosynthetic process (GO:0042364)	5.20876857
5	purine nucleobase biosynthetic process (GO:0009113)	4.98557904
6	cellular copper ion homeostasis (GO:0006878)	4.91175165
7	Golgi transport vesicle coating (GO:0048200)	4.86299832
8	COPI coating of Golgi vesicle (GO:0048205)	4.86299832
9	IMP biosynthetic process (GO:0006188)	4.81344119
10	cell wall macromolecule metabolic process (GO:0044036)	4.43304879
11	detection of chemical stimulus involved in sensory perception of smell (GO:0050911)	4.37144334
12	nucleobase biosynthetic process (GO:0046112)	4.32645891
13	mitochondrial RNA metabolic process (GO:0000959)	4.27478954
14	regulation of mitochondrial translation (GO:0070129)	4.24606446
15	DNA topological change (GO:0006265)	4.19375145
16	copper ion homeostasis (GO:0055070)	4.06103832
17	mRNA cleavage (GO:0006379)	4.05933651
18	transcription from mitochondrial promoter (GO:0006390)	3.96087697
19	IMP metabolic process (GO:0046040)	3.84799164
20	regulation of cellular respiration (GO:0043457)	3.80576783
21	meiotic chromosome segregation (GO:0045132)	3.77110456
22	pyrimidine-containing compound transmembrane transport (GO:0072531)	3.76704156
23	ribosome assembly (GO:0042255)	3.70642934
24	regulation of oxidative phosphorylation (GO:0002082)	3.70479950
25	cellular ketone body metabolic process (GO:0046950)	3.62094327
26	nucleoside transmembrane transport (GO:1901642)	3.57915154
27	plasma lipoprotein particle assembly (GO:0034377)	3.53015949
28	regulation of transmission of nerve impulse (GO:0051969)	3.52731380
29	respiratory tube development (GO:0030323)	3.50092044
30	copper ion transport (GO:0006825)	3.48658629
31	regulation of female receptivity (GO:0045924)	3.44630681
32	DNA replication checkpoint (GO:0000076)	3.36589694
33	tRNA aminoacylation for protein translation (GO:0006418)	3.33625243
34	positive regulation of vasculogenesis (GO:2001214)	3.30599017
35	ribosome biogenesis (GO:0042254)	3.29644107
36	detection of chemical stimulus involved in sensory perception (GO:0050907)	3.24972450
37	regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2	3.23470111
38	positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic proc	3.23403337
39	regulation of cholesterol esterification (GO:0010872)	3.22754985
40	resolution of meiotic recombination intermediates (GO:0000712)	3.21012959
41	tRNA aminoacylation (GO:0043039)	3.18561711
42	amino acid activation (GO:0043038)	3.18561711
43	regulation of DNA endoreduplication (GO:0032875)	3.17722710
44	protein-lipid complex assembly (GO:0065005)	3.17610191
45	aldehyde catabolic process (GO:0046185)	3.15735155
46	proteasome assembly (GO:0043248)	3.15606108
47	tricarboxylic acid cycle (GO:0006099)	3.14523443
48	ketone body metabolic process (GO:1902224)	3.13864732
49	negative regulation of retinoic acid receptor signaling pathway (GO:0048387)	3.13329149
50	protein K11-linked deubiquitination (GO:0035871)	3.11294381
51	single strand break repair (GO:0000012)	3.10534967
52	female mating behavior (GO:0060180)	3.09387229
53	regulation of retinoic acid receptor signaling pathway (GO:0048385)	3.08686581
54	regulation of transforming growth factor beta1 production (GO:0032908)	3.06470894
55	renal absorption (GO:0070293)	3.04912383
56	N-terminal protein amino acid acetylation (GO:0006474)	3.02017819
57	phospholipid efflux (GO:0033700)	3.01029484
58	positive regulation of histone H3-K4 methylation (GO:0051571)	2.95810009
59	regulation of neuron projection regeneration (GO:0070570)	2.95766990
60	regulation of axon regeneration (GO:0048679)	2.95766990
61	phospholipid homeostasis (GO:0055091)	2.93018913
62	transferrin transport (GO:0033572)	2.90748343
63	positive regulation of neurological system process (GO:0031646)	2.89168032
64	mitotic sister chromatid segregation (GO:0000070)	2.87883213
65	GMP metabolic process (GO:0046037)	2.86106971
66	glyoxylate metabolic process (GO:0046487)	2.85016197
67	very-low-density lipoprotein particle assembly (GO:0034379)	2.83158873
68	regulation of cytokine secretion involved in immune response (GO:0002739)	2.80319356
69	nucleoside transport (GO:0015858)	2.79855525
70	S-adenosylmethionine metabolic process (GO:0046500)	2.76670033
71	cullin deneddylation (GO:0010388)	2.75065241
72	ferric iron transport (GO:0015682)	2.73028486
73	trivalent inorganic cation transport (GO:0072512)	2.73028486
74	negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)	2.72669081
75	protein prenylation (GO:0018342)	2.72563468
76	prenylation (GO:0097354)	2.72563468
77	protein K48-linked deubiquitination (GO:0071108)	2.71866136
78	protein K6-linked ubiquitination (GO:0085020)	2.70798713
79	high-density lipoprotein particle remodeling (GO:0034375)	2.70171209
80	pseudouridine synthesis (GO:0001522)	2.69361321
81	mitotic metaphase plate congression (GO:0007080)	2.69346887
82	proline metabolic process (GO:0006560)	2.68370092
83	regulation of cilium movement (GO:0003352)	2.67501996
84	mitotic nuclear envelope disassembly (GO:0007077)	2.66890490
85	positive regulation of endothelial cell differentiation (GO:0045603)	2.65340742
86	phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)	2.65045109
87	nuclear pore organization (GO:0006999)	2.61771450
88	cytochrome complex assembly (GO:0017004)	2.60325873
89	positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	2.59564566
90	positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)	2.59564566
91	positive regulation of mitotic sister chromatid separation (GO:1901970)	2.59564566
92	double-strand break repair via nonhomologous end joining (GO:0006303)	2.58265672
93	non-recombinational repair (GO:0000726)	2.58265672
94	protein deneddylation (GO:0000338)	2.57852319
95	DNA strand renaturation (GO:0000733)	2.57706051
96	mitotic sister chromatid cohesion (GO:0007064)	2.56292219
97	cobalamin metabolic process (GO:0009235)	2.55582245
98	rRNA methylation (GO:0031167)	2.54035382
99	sleep (GO:0030431)	2.53818932
100	NADH dehydrogenase complex assembly (GO:0010257)	2.53802674

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	VDR_22108803_ChIP-Seq_LS180_Human	4.54110537
2	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	4.20624808
3	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	3.54708264
4	EST1_17652178_ChIP-ChIP_JURKAT_Human	3.46720140
5	GABP_17652178_ChIP-ChIP_JURKAT_Human	3.38632002
6	FOXM1_23109430_ChIP-Seq_U2OS_Human	2.96277557
7	E2F7_22180533_ChIP-Seq_HELA_Human	2.92798110
8	CREB1_15753290_ChIP-ChIP_HEK293T_Human	2.87553550
9	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.81061131
10	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.67901951
11	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.58136828
12	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.55952881
13	FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human	2.52973620
14	ELF1_17652178_ChIP-ChIP_JURKAT_Human	2.52943660
15	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	2.52163426
16	E2F4_17652178_ChIP-ChIP_JURKAT_Human	2.38728336
17	MYC_18555785_ChIP-Seq_MESCs_Mouse	2.34596560
18	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	2.31986864
19	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.12540768
20	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.10242723
21	VDR_23849224_ChIP-Seq_CD4+_Human	2.07267847
22	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	1.98850868
23	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.95174051
24	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.95032208
25	MYC_19079543_ChIP-ChIP_MESCs_Mouse	1.93663415
26	MYC_19030024_ChIP-ChIP_MESCs_Mouse	1.90935762
27	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	1.84670075
28	HOXB4_20404135_ChIP-ChIP_EML_Mouse	1.83824066
29	AR_21909140_ChIP-Seq_LNCAP_Human	1.82381622
30	KDM5B_21448134_ChIP-Seq_MESCs_Mouse	1.82310593
31	EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse	1.77605575
32	ELK1_19687146_ChIP-ChIP_HELA_Human	1.75075755
33	YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse	1.71009091
34	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.70653962
35	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.69392890
36	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.67389942
37	IGF1R_20145208_ChIP-Seq_DFB_Human	1.65713809
38	FOXP3_21729870_ChIP-Seq_TREG_Human	1.64781455
39	ZNF274_21170338_ChIP-Seq_K562_Hela	1.56959617
40	DCP1A_22483619_ChIP-Seq_HELA_Human	1.56955958
41	NELFA_20434984_ChIP-Seq_ESCs_Mouse	1.55581907
42	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.54783289
43	NANOG_18555785_ChIP-Seq_MESCs_Mouse	1.53845752
44	GABP_19822575_ChIP-Seq_HepG2_Human	1.52399407
45	MYCN_18555785_ChIP-Seq_MESCs_Mouse	1.43139975
46	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.42142668
47	KDM5A_27292631_Chip-Seq_BREAST_Human	1.40719664
48	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.40421132
49	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.39970030
50	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.39763082
51	TTF2_22483619_ChIP-Seq_HELA_Human	1.37148591
52	HNF4A_19761587_ChIP-ChIP_CACO-2_Human	1.34864629
53	EWS_26573619_Chip-Seq_HEK293_Human	1.34596809
54	POU5F1_18555785_ChIP-Seq_MESCs_Mouse	1.32781419
55	SALL4_22934838_ChIP-ChIP_CD34+_Human	1.32754137
56	PRDM5_23873026_ChIP-Seq_MEFs_Mouse	1.31176463
57	TP53_22573176_ChIP-Seq_HFKS_Human	1.28768426
58	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.27958587
59	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.27916666
60	E2F1_18555785_ChIP-Seq_MESCs_Mouse	1.26966315
61	HTT_18923047_ChIP-ChIP_STHdh_Human	1.22778453
62	MYC_18940864_ChIP-ChIP_HL60_Human	1.22243358
63	MYBL2_22936984_ChIP-ChIP_MESCs_Mouse	1.22093593
64	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.17296857
65	CBP_20019798_ChIP-Seq_JUKART_Human	1.17296857
66	E2F1_21310950_ChIP-Seq_MCF-7_Human	1.15256056
67	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	1.09875838
68	PCGF4_22325352_ChIP-Seq_293T-Rex_Human	1.08604962
69	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.07338632
70	SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse	1.07063710
71	CIITA_25753668_ChIP-Seq_RAJI_Human	1.05355692
72	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.04364887
73	XRN2_22483619_ChIP-Seq_HELA_Human	1.04037354
74	NANOG_19829295_ChIP-Seq_ESCs_Human	1.02043720
75	SOX2_19829295_ChIP-Seq_ESCs_Human	1.02043720
76	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.01673397
77	PHF8_20622853_ChIP-Seq_HELA_Human	1.00528247
78	FOXH1_21741376_ChIP-Seq_EPCs_Human	1.00152251
79	ESR1_17901129_ChIP-ChIP_LIVER_Mouse	0.95995768
80	EGR1_23403033_ChIP-Seq_LIVER_Mouse	0.95655566
81	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	0.95298268
82	YY1_21170310_ChIP-Seq_MESCs_Mouse	0.94376202
83	RBPJ_21746931_ChIP-Seq_IB4_Human	0.94243490
84	POU5F1_18358816_ChIP-ChIP_MESCs_Mouse	0.92574925
85	PCGF2_27294783_Chip-Seq_ESCs_Mouse	0.91700543
86	CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human	0.91652455
87	NFYB_21822215_ChIP-Seq_K562_Human	0.90445135
88	NANOG_18358816_ChIP-ChIP_MESCs_Mouse	0.90426541
89	ZFX_18555785_ChIP-Seq_MESCs_Mouse	0.89531879
90	TFEB_21752829_ChIP-Seq_HELA_Human	0.89382301
91	PPARD_23208498_ChIP-Seq_MDA-MB-231_Human	0.88008302
92	SOX17_20123909_ChIP-Seq_XEN_Mouse	0.87575044
93	ETV1_20927104_ChIP-Seq_GIST48_Human	0.87441540
94	SALL4_18804426_ChIP-ChIP_XEN_Mouse	0.86784062
95	E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human	0.85157653
96	ASH2L_23239880_ChIP-Seq_MESCs_Mouse	0.83720357
97	CDX2_21074721_ChIP-Seq_CACO-2_Mouse	0.81975887
98	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	0.81947234
99	MEF2A_21415370_ChIP-Seq_HL-1_Mouse	0.81139549
100	FOXA1_27270436_Chip-Seq_PROSTATE_Human	0.81011271

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0001986_abnormal_taste_sensitivity	5.21663994
2	MP0008058_abnormal_DNA_repair	3.95110431
3	MP0008057_abnormal_DNA_replication	3.83277785
4	MP0004019_abnormal_vitamin_homeostasis	3.42915614
5	MP0004147_increased_porphyrin_level	3.19770490
6	MP0005408_hypopigmentation	3.01982536
7	MP0003718_maternal_effect	2.93291915
8	MP0003191_abnormal_cellular_cholesterol	2.73906458
9	MP0003693_abnormal_embryo_hatching	2.57938754
10	MP0003890_abnormal_embryonic-extraembry	2.41590791
11	MP0010094_abnormal_chromosome_stability	2.38500445
12	MP0004957_abnormal_blastocyst_morpholog	2.26997536
13	MP0010352_gastrointestinal_tract_polyps	2.26787324
14	MP0003136_yellow_coat_color	2.23985326
15	MP0003646_muscle_fatigue	2.06810785
16	MP0009840_abnormal_foam_cell	2.06715483
17	MP0001501_abnormal_sleep_pattern	2.04985300
18	MP0003806_abnormal_nucleotide_metabolis	1.97385049
19	MP0005646_abnormal_pituitary_gland	1.97079211
20	MP0006035_abnormal_mitochondrial_morpho	1.93873080
21	MP0006036_abnormal_mitochondrial_physio	1.91507968
22	MP0008932_abnormal_embryonic_tissue	1.91322496
23	MP0003111_abnormal_nucleus_morphology	1.84028973
24	MP0003786_premature_aging	1.79764906
25	MP0003119_abnormal_digestive_system	1.78560274
26	MP0003077_abnormal_cell_cycle	1.76837911
27	MP0002736_abnormal_nociception_after	1.74678895
28	MP0002009_preneoplasia	1.68716125
29	MP0000358_abnormal_cell_content/	1.65466326
30	MP0004272_abnormal_basement_membrane	1.59549567
31	MP0009053_abnormal_anal_canal	1.53295557
32	MP0008995_early_reproductive_senescence	1.52375298
33	MP0005423_abnormal_somatic_nervous	1.47430000
34	MP0000569_abnormal_digit_pigmentation	1.47369029
35	MP0001697_abnormal_embryo_size	1.43732062
36	MP0004233_abnormal_muscle_weight	1.42693224
37	MP0008007_abnormal_cellular_replicative	1.38438314
38	MP0002909_abnormal_adrenal_gland	1.33272194
39	MP0001764_abnormal_homeostasis	1.33026256
40	MP0000647_abnormal_sebaceous_gland	1.32144494
41	MP0002735_abnormal_chemical_nociception	1.30102467
42	MP0006276_abnormal_autonomic_nervous	1.29757889
43	MP0003937_abnormal_limbs/digits/tail_de	1.28918684
44	MP0010329_abnormal_lipoprotein_level	1.27608292
45	MP0001756_abnormal_urination	1.25367887
46	MP0005636_abnormal_mineral_homeostasis	1.24480558
47	MP0003385_abnormal_body_wall	1.20249473
48	MP0005085_abnormal_gallbladder_physiolo	1.18134630
49	MP0005380_embryogenesis_phenotype	1.17942565
50	MP0001672_abnormal_embryogenesis/_devel	1.17942565
51	MP0006072_abnormal_retinal_apoptosis	1.17938324
52	MP0001929_abnormal_gametogenesis	1.17549211
53	MP0002396_abnormal_hematopoietic_system	1.15996362
54	MP0009046_muscle_twitch	1.15787523
55	MP0002088_abnormal_embryonic_growth/wei	1.13908392
56	MP0000015_abnormal_ear_pigmentation	1.12938673
57	MP0003984_embryonic_growth_retardation	1.12786034
58	MP0008004_abnormal_stomach_pH	1.11101961
59	MP0003567_abnormal_fetal_cardiomyocyte	1.10055962
60	MP0010234_abnormal_vibrissa_follicle	1.09258196
61	MP0002084_abnormal_developmental_patter	1.07207193
62	MP0001730_embryonic_growth_arrest	1.04567600
63	MP0000538_abnormal_urinary_bladder	1.00665834
64	MP0008877_abnormal_DNA_methylation	1.00496620
65	MP0004134_abnormal_chest_morphology	0.99946195
66	MP0002210_abnormal_sex_determination	0.99801502
67	MP0003941_abnormal_skin_development	0.98032192
68	MP0005410_abnormal_fertilization	0.93482636
69	MP0005379_endocrine/exocrine_gland_phen	0.93113595
70	MP0001968_abnormal_touch/_nociception	0.90731082
71	MP0002733_abnormal_thermal_nociception	0.89156666
72	MP0002086_abnormal_extraembryonic_tissu	0.89152437
73	MP0001765_abnormal_ion_homeostasis	0.89044166
74	MP0000639_abnormal_adrenal_gland	0.85527102
75	MP0005367_renal/urinary_system_phenotyp	0.85023439
76	MP0000516_abnormal_urinary_system	0.85023439
77	MP0003698_abnormal_male_reproductive	0.84611836
78	MP0000350_abnormal_cell_proliferation	0.84142627
79	MP0002653_abnormal_ependyma_morphology	0.83903832
80	MP0003186_abnormal_redox_activity	0.83097537
81	MP0001145_abnormal_male_reproductive	0.82526063
82	MP0005253_abnormal_eye_physiology	0.82283417
83	MP0002080_prenatal_lethality	0.81115579
84	MP0000653_abnormal_sex_gland	0.80697812
85	MP0008775_abnormal_heart_ventricle	0.79953534
86	MP0003950_abnormal_plasma_membrane	0.78852141
87	MP0002098_abnormal_vibrissa_morphology	0.78627814
88	MP0003195_calcinosis	0.77459302
89	MP0003303_peritoneal_inflammation	0.76888455
90	MP0009780_abnormal_chondrocyte_physiolo	0.74703213
91	MP0003959_abnormal_lean_body	0.74620723
92	MP0001970_abnormal_pain_threshold	0.72339109
93	MP0005395_other_phenotype	0.72302996
94	MP0000462_abnormal_digestive_system	0.71825822
95	MP0008872_abnormal_physiological_respon	0.71493924
96	MP0005332_abnormal_amino_acid	0.70655492
97	MP0005365_abnormal_bile_salt	0.70325034
98	MP0002272_abnormal_nervous_system	0.69550029
99	MP0005551_abnormal_eye_electrophysiolog	0.69308139
100	MP0000427_abnormal_hair_cycle	0.67764773

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Abnormality of homocysteine metabolism (HP:0010919)	5.91783022
2	Homocystinuria (HP:0002156)	5.91783022
3	Abnormality of methionine metabolism (HP:0010901)	5.15766747
4	Methylmalonic acidemia (HP:0002912)	4.77600367
5	Neuroendocrine neoplasm (HP:0100634)	4.56097779
6	Pheochromocytoma (HP:0002666)	4.44001232
7	Abnormality of vitamin B metabolism (HP:0004340)	4.07507489
8	Methylmalonic aciduria (HP:0012120)	4.02321310
9	Abnormality of the vitamin B12 metabolism (HP:0004341)	3.94292870
10	Ileus (HP:0002595)	3.91800959
11	Abnormality of aspartate family amino acid metabolism (HP:0010899)	3.59218068
12	Hypobetalipoproteinemia (HP:0003563)	3.50624548
13	Neoplasm of the peripheral nervous system (HP:0100007)	3.49927310
14	Abnormality of sulfur amino acid metabolism (HP:0004339)	3.40412926
15	Hypolipoproteinemia (HP:0010981)	3.25109959
16	Intrahepatic cholestasis (HP:0001406)	3.21231513
17	Cerebral hypomyelination (HP:0006808)	3.17479110
18	Abnormality of the level of lipoprotein cholesterol (HP:0010979)	3.00505579
19	Pendular nystagmus (HP:0012043)	2.99844653
20	Abnormality of vitamin metabolism (HP:0100508)	2.99400371
21	Papillary thyroid carcinoma (HP:0002895)	2.97212658
22	Facial diplegia (HP:0001349)	2.91668057
23	Tinnitus (HP:0000360)	2.90000500
24	Neoplasm of the adrenal gland (HP:0100631)	2.89868175
25	Bilateral sensorineural hearing impairment (HP:0008619)	2.76351850
26	Spontaneous abortion (HP:0005268)	2.73419372
27	Increased serum pyruvate (HP:0003542)	2.71773370
28	Abnormality of glycolysis (HP:0004366)	2.68074038
29	Abnormality of alanine metabolism (HP:0010916)	2.66631059
30	Hyperalaninemia (HP:0003348)	2.66631059
31	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.66631059
32	Retinal atrophy (HP:0001105)	2.64549355
33	Hypoalphalipoproteinemia (HP:0003233)	2.62729288
34	Astrocytoma (HP:0009592)	2.62711462
35	Abnormality of the astrocytes (HP:0100707)	2.62711462
36	Cholecystitis (HP:0001082)	2.62279967
37	Abnormal gallbladder physiology (HP:0012438)	2.62279967
38	Central scotoma (HP:0000603)	2.54326286
39	Chromsome breakage (HP:0040012)	2.50832506
40	Increased CSF lactate (HP:0002490)	2.45439173
41	Acute encephalopathy (HP:0006846)	2.44619498
42	Chorioretinal atrophy (HP:0000533)	2.43355508
43	Acute necrotizing encephalopathy (HP:0006965)	2.37451310
44	Thyroid carcinoma (HP:0002890)	2.35988852
45	Steatorrhea (HP:0002570)	2.35435571
46	Azoospermia (HP:0000027)	2.32608032
47	Increased serum lactate (HP:0002151)	2.32168707
48	Progressive macrocephaly (HP:0004481)	2.28917972
49	Hamartoma of the eye (HP:0010568)	2.26150341
50	Pancreatic islet-cell hyperplasia (HP:0004510)	2.19393234
51	Abnormality of the parathyroid morphology (HP:0011766)	2.18676837
52	CNS hypomyelination (HP:0003429)	2.16065300
53	Abnormality of the common coagulation pathway (HP:0010990)	2.09820395
54	Megaloblastic anemia (HP:0001889)	2.09040618
55	Neoplasm of the adrenal cortex (HP:0100641)	2.08831156
56	Lethargy (HP:0001254)	2.05089631
57	Proximal tubulopathy (HP:0000114)	2.04250850
58	Horizontal nystagmus (HP:0000666)	2.04216603
59	Type I transferrin isoform profile (HP:0003642)	2.03708403
60	Fat malabsorption (HP:0002630)	2.02582014
61	Abnormal mitochondria in muscle tissue (HP:0008316)	2.02406985
62	Attenuation of retinal blood vessels (HP:0007843)	2.01046010
63	Slender build (HP:0001533)	2.00186786
64	Malnutrition (HP:0004395)	1.99062702
65	Glioma (HP:0009733)	1.98945530
66	Birth length less than 3rd percentile (HP:0003561)	1.98036325
67	Palpitations (HP:0001962)	1.98034195
68	Epidermoid cyst (HP:0200040)	1.86989355
69	Abnormal spermatogenesis (HP:0008669)	1.86917065
70	Reduced antithrombin III activity (HP:0001976)	1.86251071
71	Conjunctival hamartoma (HP:0100780)	1.86233358
72	Chronic hepatic failure (HP:0100626)	1.80802580
73	Aplastic anemia (HP:0001915)	1.80066517
74	Truncus arteriosus (HP:0001660)	1.77653816
75	Abnormality of the pons (HP:0007361)	1.76790875
76	Hypoplasia of the pons (HP:0012110)	1.74530760
77	Cutaneous melanoma (HP:0012056)	1.74188243
78	Autoamputation (HP:0001218)	1.69251458
79	Abnormality of serum amino acid levels (HP:0003112)	1.66512304
80	Confusion (HP:0001289)	1.65010119
81	Absent rod-and cone-mediated responses on ERG (HP:0007688)	1.64032365
82	Patchy hypopigmentation of hair (HP:0011365)	1.62881598
83	Neoplasm of the small intestine (HP:0100833)	1.62601748
84	Concave nail (HP:0001598)	1.62488717
85	Abnormality of dicarboxylic acid metabolism (HP:0010995)	1.60445918
86	Dicarboxylic aciduria (HP:0003215)	1.60445918
87	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	1.59565333
88	Abnormal protein N-linked glycosylation (HP:0012347)	1.59565333
89	Abnormal protein glycosylation (HP:0012346)	1.59565333
90	Abnormal glycosylation (HP:0012345)	1.59565333
91	Petechiae (HP:0000967)	1.59451785
92	Nonimmune hydrops fetalis (HP:0001790)	1.59120915
93	Hyperbilirubinemia (HP:0002904)	1.58274561
94	Renal tubular acidosis (HP:0001947)	1.57361982
95	Hepatoblastoma (HP:0002884)	1.57189702
96	Patent foramen ovale (HP:0001655)	1.55711319
97	Lactic acidosis (HP:0003128)	1.55354592
98	Hyperthyroidism (HP:0000836)	1.54942696
99	Cellular immunodeficiency (HP:0005374)	1.53635263
100	Fibrous tissue neoplasm (HP:0012316)	1.53582239

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	7.06560511
2	PBK	3.50873274
3	STK38L	2.76634242
4	NEK6	2.50088398
5	MKNK2	2.06890901
6	PDK2	10.1816497
7	STK16	1.81445615
8	NEK1	1.80876137
9	EIF2AK3	1.73973997
10	BUB1	1.70551854
11	MST4	1.69687463
12	SRPK1	1.69046322
13	EIF2AK1	1.60816021
14	MKNK1	1.47886927
15	MAP3K9	1.47663270
16	TTK	1.43005563
17	AKT3	1.36865724
18	ACVR1B	1.33145111
19	PLK4	1.32479162
20	WNK4	1.21776360
21	EPHA4	1.09986608
22	RIPK4	1.09137705
23	CHEK2	1.07379211
24	PLK3	1.04963399
25	PLK2	0.94112972
26	OXSR1	0.91884918
27	CDC7	0.89510384
28	PIK3CG	0.86451415
29	SCYL2	0.85111806
30	PLK1	0.83319610
31	BRSK2	0.83302583
32	GRK1	0.79441002
33	NME1	0.78783507
34	TSSK6	0.78206213
35	STK4	0.78021737
36	STK39	0.77122189
37	MAP2K2	0.76490995
38	FGFR2	0.75556844
39	STK10	0.75059637
40	STK38	0.74422319
41	WEE1	0.73921900
42	MAPK7	0.71197942
43	CDK19	0.69351064
44	DYRK3	0.62941758
45	AKT2	0.60430016
46	MAP3K8	0.56725336
47	MAPK12	0.53860458
48	CSNK1G3	0.53630103
49	BMPR2	0.53249899
50	BMX	0.52571966
51	PRKCI	0.50652474
52	NTRK3	0.50219703
53	CHEK1	0.49587427
54	BMPR1B	0.49498636
55	ATM	0.49016489
56	CSNK1G2	0.48870222
57	PAK1	0.46176453
58	CLK1	0.45423871
59	AURKB	0.44727593
60	PRKCG	0.44677959
61	CSNK1A1	0.43691465
62	PNCK	0.42973183
63	NEK2	0.42352480
64	CSNK1E	0.41902827
65	CSNK2A1	0.41597226
66	BRD4	0.39973992
67	ATR	0.37642474
68	RPS6KA5	0.37619622
69	CSNK1A1L	0.36475941
70	CSNK2A2	0.33420054
71	CSNK1G1	0.33021485
72	BCKDK	0.32981519
73	MATK	0.32425774
74	TNK2	0.32049078
75	PHKG1	0.31272699
76	PHKG2	0.31272699
77	EIF2AK2	0.30730446
78	AURKA	0.30437501
79	RPS6KB2	0.30179899
80	CDK1	0.29283599
81	PDPK1	0.28985998
82	PRKDC	0.28040891
83	PRKCE	0.27640307
84	PDK1	0.27471597
85	KSR2	0.27362740
86	MAP3K4	0.26998103
87	CDK2	0.25633647
88	PRKCA	0.24146382
89	ZAK	0.23736181
90	ERBB2	0.23331514
91	ERBB4	0.23148277
92	TEC	0.21892637
93	MAPK13	0.21842602
94	ALK	0.21795772
95	MAP2K1	0.21259625
96	PRKACB	0.20120042
97	TRIM28	0.19040902
98	ADRBK2	0.18920294
99	PRKACA	0.18720074
100	DAPK2	0.17657411

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Non-homologous end-joining_Homo sapiens_hsa03450	4.06686387
2	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	3.36308750
3	Collecting duct acid secretion_Homo sapiens_hsa04966	3.19868374
4	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	3.19388994
5	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	3.02416830
6	Selenocompound metabolism_Homo sapiens_hsa00450	3.01886667
7	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	2.63349837
8	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	2.58417956
9	Homologous recombination_Homo sapiens_hsa03440	2.34514772
10	Primary bile acid biosynthesis_Homo sapiens_hsa00120	2.04754463
11	Nitrogen metabolism_Homo sapiens_hsa00910	1.98604751
12	Basal transcription factors_Homo sapiens_hsa03022	1.91305431
13	RNA transport_Homo sapiens_hsa03013	1.87103340
14	Steroid biosynthesis_Homo sapiens_hsa00100	1.86951043
15	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.85723159
16	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.81862229
17	Butanoate metabolism_Homo sapiens_hsa00650	1.76938656
18	Protein export_Homo sapiens_hsa03060	1.76812679
19	Olfactory transduction_Homo sapiens_hsa04740	1.74109134
20	RNA polymerase_Homo sapiens_hsa03020	1.68470600
21	Oxidative phosphorylation_Homo sapiens_hsa00190	1.66400967
22	Vitamin digestion and absorption_Homo sapiens_hsa04977	1.66105977
23	Folate biosynthesis_Homo sapiens_hsa00790	1.60961465
24	Propanoate metabolism_Homo sapiens_hsa00640	1.53024618
25	Proteasome_Homo sapiens_hsa03050	1.49803826
26	Fatty acid elongation_Homo sapiens_hsa00062	1.48739655
27	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	1.44235807
28	Pyruvate metabolism_Homo sapiens_hsa00620	1.43708226
29	Nucleotide excision repair_Homo sapiens_hsa03420	1.33525798
30	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.28019787
31	Fatty acid metabolism_Homo sapiens_hsa01212	1.27962530
32	Vibrio cholerae infection_Homo sapiens_hsa05110	1.23289460
33	Peroxisome_Homo sapiens_hsa04146	1.20521092
34	mRNA surveillance pathway_Homo sapiens_hsa03015	1.19340644
35	Fanconi anemia pathway_Homo sapiens_hsa03460	1.17811849
36	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	1.17239581
37	Base excision repair_Homo sapiens_hsa03410	1.11344654
38	Mismatch repair_Homo sapiens_hsa03430	1.10379151
39	Pyrimidine metabolism_Homo sapiens_hsa00240	1.10051719
40	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	1.09946262
41	Fat digestion and absorption_Homo sapiens_hsa04975	1.09466560
42	One carbon pool by folate_Homo sapiens_hsa00670	1.08173435
43	Ribosome_Homo sapiens_hsa03010	1.07781320
44	Parkinsons disease_Homo sapiens_hsa05012	1.07588200
45	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	1.05198867
46	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.02241300
47	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.00697489
48	RNA degradation_Homo sapiens_hsa03018	1.00065970
49	Purine metabolism_Homo sapiens_hsa00230	0.98352472
50	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	0.98032304
51	Fatty acid degradation_Homo sapiens_hsa00071	0.96828741
52	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.93476667
53	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.92256823
54	Mineral absorption_Homo sapiens_hsa04978	0.91776075
55	Glutathione metabolism_Homo sapiens_hsa00480	0.89096186
56	Spliceosome_Homo sapiens_hsa03040	0.88889074
57	Tryptophan metabolism_Homo sapiens_hsa00380	0.87051250
58	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.87001662
59	DNA replication_Homo sapiens_hsa03030	0.85892492
60	Huntingtons disease_Homo sapiens_hsa05016	0.85357417
61	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.84533329
62	ABC transporters_Homo sapiens_hsa02010	0.82924909
63	Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120	0.81023588
64	Arginine and proline metabolism_Homo sapiens_hsa00330	0.79571841
65	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.77919087
66	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.74807792
67	Metabolic pathways_Homo sapiens_hsa01100	0.73977455
68	Cell cycle_Homo sapiens_hsa04110	0.73514159
69	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.70619612
70	Sphingolipid metabolism_Homo sapiens_hsa00600	0.70037812
71	Sulfur metabolism_Homo sapiens_hsa00920	0.66077711
72	Carbon metabolism_Homo sapiens_hsa01200	0.65202095
73	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.64208830
74	beta-Alanine metabolism_Homo sapiens_hsa00410	0.62248871
75	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.62082013
76	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.60606156
77	Oocyte meiosis_Homo sapiens_hsa04114	0.58031109
78	Galactose metabolism_Homo sapiens_hsa00052	0.54048309
79	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.49998134
80	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.47607416
81	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.44220991
82	Glycerolipid metabolism_Homo sapiens_hsa00561	0.43889805
83	Arginine biosynthesis_Homo sapiens_hsa00220	0.42235859
84	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	0.40198469
85	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.39717151
86	Alzheimers disease_Homo sapiens_hsa05010	0.38871921
87	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.37666739
88	Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141	0.37486280
89	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.37425957
90	Nicotine addiction_Homo sapiens_hsa05033	0.35188915
91	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.33881553
92	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.32905089
93	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.30920798
94	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.27667020
95	p53 signaling pathway_Homo sapiens_hsa04115	0.26278138
96	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	0.25809407
97	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.23944658
98	Retinol metabolism_Homo sapiens_hsa00830	0.22970832
99	Rheumatoid arthritis_Homo sapiens_hsa05323	0.20369985
100	PPAR signaling pathway_Homo sapiens_hsa03320	0.19454372

GVINP2

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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