ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	regulation of acrosome reaction (GO:0060046)	6.29406045
2	histone H3-K9 demethylation (GO:0033169)	6.03559796
3	positive regulation of meiosis (GO:0045836)	4.87528028
4	regulation of cholesterol esterification (GO:0010872)	4.81973437
5	protein prenylation (GO:0018342)	4.76416162
6	prenylation (GO:0097354)	4.76416162
7	positive regulation of meiotic cell cycle (GO:0051446)	4.62393713
8	respiratory chain complex IV assembly (GO:0008535)	4.55404246
9	genitalia morphogenesis (GO:0035112)	4.36077809
10	serotonin metabolic process (GO:0042428)	4.34041980
11	cellular ketone body metabolic process (GO:0046950)	4.13459974
12	response to pheromone (GO:0019236)	4.08668141
13	water-soluble vitamin biosynthetic process (GO:0042364)	4.02691225
14	high-density lipoprotein particle remodeling (GO:0034375)	4.01094028
15	oocyte development (GO:0048599)	3.93617732
16	phospholipid efflux (GO:0033700)	3.78588669
17	xenobiotic catabolic process (GO:0042178)	3.71413374
18	indolalkylamine metabolic process (GO:0006586)	3.68368899
19	retinal cone cell development (GO:0046549)	3.67529972
20	ketone body metabolic process (GO:1902224)	3.61363103
21	indole-containing compound metabolic process (GO:0042430)	3.60304063
22	female gonad development (GO:0008585)	3.60204659
23	cellular response to ethanol (GO:0071361)	3.58446895
24	regulation of cytokine secretion involved in immune response (GO:0002739)	3.56061178
25	multicellular organism reproduction (GO:0032504)	3.54210285
26	cytochrome complex assembly (GO:0017004)	3.48565112
27	branched-chain amino acid catabolic process (GO:0009083)	3.47586939
28	plasma lipoprotein particle assembly (GO:0034377)	3.45708739
29	primary amino compound metabolic process (GO:1901160)	3.42239166
30	reverse cholesterol transport (GO:0043691)	3.40451729
31	cullin deneddylation (GO:0010388)	3.36460980
32	dolichol-linked oligosaccharide biosynthetic process (GO:0006488)	3.30702560
33	protein K6-linked ubiquitination (GO:0085020)	3.28518930
34	regulation of DNA endoreduplication (GO:0032875)	3.27134845
35	cholesterol biosynthetic process (GO:0006695)	3.25686741
36	phospholipid homeostasis (GO:0055091)	3.25489982
37	piRNA metabolic process (GO:0034587)	3.22783078
38	synapsis (GO:0007129)	3.20708462
39	regulation of meiosis I (GO:0060631)	3.17792199
40	negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)	3.15899187
41	sterol biosynthetic process (GO:0016126)	3.14859547
42	protein-cofactor linkage (GO:0018065)	3.14145115
43	positive regulation of heterotypic cell-cell adhesion (GO:0034116)	3.03788857
44	cholesterol efflux (GO:0033344)	3.01420745
45	toxin transport (GO:1901998)	3.00491261
46	nucleobase catabolic process (GO:0046113)	3.00411166
47	plasma lipoprotein particle clearance (GO:0034381)	2.99862541
48	protein deneddylation (GO:0000338)	2.99330973
49	protein complex biogenesis (GO:0070271)	2.97805154
50	indole-containing compound catabolic process (GO:0042436)	2.93218281
51	indolalkylamine catabolic process (GO:0046218)	2.93218281
52	tryptophan catabolic process (GO:0006569)	2.93218281
53	peristalsis (GO:0030432)	2.92905617
54	proteasome assembly (GO:0043248)	2.91496382
55	epithelial cilium movement (GO:0003351)	2.90920029
56	DNA ligation (GO:0006266)	2.90298986
57	mitochondrial respiratory chain complex assembly (GO:0033108)	2.90179939
58	very-low-density lipoprotein particle assembly (GO:0034379)	2.89208522
59	aromatic amino acid family catabolic process (GO:0009074)	2.88904281
60	male meiosis I (GO:0007141)	2.85573628
61	tyrosine metabolic process (GO:0006570)	2.85141183
62	L-phenylalanine catabolic process (GO:0006559)	2.84051031
63	erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)	2.84051031
64	isoprenoid biosynthetic process (GO:0008299)	2.82324895
65	mitochondrial respiratory chain complex I assembly (GO:0032981)	2.80390737
66	NADH dehydrogenase complex assembly (GO:0010257)	2.80390737
67	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	2.80390737
68	negative regulation of Ras GTPase activity (GO:0034261)	2.78924840
69	mannosylation (GO:0097502)	2.78825277
70	regulation of heterotypic cell-cell adhesion (GO:0034114)	2.77926163
71	pyrimidine nucleobase catabolic process (GO:0006208)	2.74472956
72	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	2.73154713
73	protein-lipid complex assembly (GO:0065005)	2.72700480
74	tryptophan metabolic process (GO:0006568)	2.72697629
75	meiosis I (GO:0007127)	2.72572813
76	single fertilization (GO:0007338)	2.71068574
77	plasma lipoprotein particle remodeling (GO:0034369)	2.70748039
78	protein-lipid complex remodeling (GO:0034368)	2.70748039
79	macromolecular complex remodeling (GO:0034367)	2.70748039
80	intraciliary transport (GO:0042073)	2.70411388
81	DNA methylation involved in gamete generation (GO:0043046)	2.70156646
82	negative regulation of lipase activity (GO:0060192)	2.67722385
83	regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	2.64078417
84	branched-chain amino acid metabolic process (GO:0009081)	2.62105845
85	regulation of helicase activity (GO:0051095)	2.61110474
86	establishment of protein localization to mitochondrial membrane (GO:0090151)	2.58893295
87	aldehyde catabolic process (GO:0046185)	2.58747459
88	negative regulation of hormone biosynthetic process (GO:0032353)	2.58134758
89	cellular response to gonadotropin stimulus (GO:0071371)	2.57780582
90	regulation of meiosis (GO:0040020)	2.54321617
91	lactate metabolic process (GO:0006089)	2.52464906
92	norepinephrine metabolic process (GO:0042415)	2.51918345
93	regulation of calcium ion-dependent exocytosis (GO:0017158)	2.51612275
94	negative regulation of DNA-dependent DNA replication (GO:2000104)	2.51409762
95	histone H3-K36 demethylation (GO:0070544)	2.51403881
96	kinetochore assembly (GO:0051382)	2.50583953
97	cilium movement (GO:0003341)	2.50264450
98	endocrine pancreas development (GO:0031018)	2.49911945
99	parental behavior (GO:0060746)	2.49570479
100	histone lysine demethylation (GO:0070076)	2.49420064

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	5.02349331
2	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	3.99146096
3	SALL1_21062744_ChIP-ChIP_HESCs_Human	3.66574879
4	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	3.48857613
5	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	3.36520443
6	VDR_22108803_ChIP-Seq_LS180_Human	3.18517028
7	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	2.97072681
8	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.53401846
9	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.49566517
10	FUS_26573619_Chip-Seq_HEK293_Human	2.49344936
11	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.46290378
12	IGF1R_20145208_ChIP-Seq_DFB_Human	2.43579744
13	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.41261423
14	ZNF274_21170338_ChIP-Seq_K562_Hela	2.31350569
15	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	2.26319525
16	TAF15_26573619_Chip-Seq_HEK293_Human	2.23682811
17	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.16947463
18	EST1_17652178_ChIP-ChIP_JURKAT_Human	2.11581273
19	P300_19829295_ChIP-Seq_ESCs_Human	2.04486233
20	EWS_26573619_Chip-Seq_HEK293_Human	1.99415122
21	BCAT_22108803_ChIP-Seq_LS180_Human	1.99181654
22	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.98844142
23	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.94140741
24	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.80601212
25	GBX2_23144817_ChIP-Seq_PC3_Human	1.80048769
26	EZH2_22144423_ChIP-Seq_EOC_Human	1.74016375
27	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.72480324
28	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.70529297
29	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.69014361
30	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.64193850
31	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.61260424
32	SMAD4_21799915_ChIP-Seq_A2780_Human	1.60953635
33	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.57986633
34	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.56892606
35	ELK1_19687146_ChIP-ChIP_HELA_Human	1.55929373
36	AR_25329375_ChIP-Seq_VCAP_Human	1.55418662
37	TCF4_22108803_ChIP-Seq_LS180_Human	1.52583454
38	ER_23166858_ChIP-Seq_MCF-7_Human	1.51657725
39	STAT3_23295773_ChIP-Seq_U87_Human	1.50529233
40	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.47955840
41	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.46523004
42	TCF4_23295773_ChIP-Seq_U87_Human	1.42496927
43	VDR_23849224_ChIP-Seq_CD4+_Human	1.38998220
44	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.37436395
45	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.35486851
46	CBP_20019798_ChIP-Seq_JUKART_Human	1.35450854
47	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.35450854
48	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.34657616
49	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	1.34094681
50	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.32446338
51	SOX2_19829295_ChIP-Seq_ESCs_Human	1.27447732
52	NANOG_19829295_ChIP-Seq_ESCs_Human	1.27447732
53	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.27391368
54	HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse	1.26607590
55	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.26389714
56	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.26328524
57	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.25007799
58	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.23961585
59	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.23071387
60	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.22976641
61	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.22515638
62	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.20326236
63	FOXP3_17237761_ChIP-ChIP_TREG_Mouse	1.19542884
64	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.18987238
65	SMAD3_21741376_ChIP-Seq_HESCs_Human	1.16641799
66	TP53_22573176_ChIP-Seq_HFKS_Human	1.16018740
67	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.15905394
68	NCOR_22424771_ChIP-Seq_293T_Human	1.14425208
69	STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse	1.13039915
70	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.12687091
71	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.12007871
72	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.11206938
73	HNF4A_19761587_ChIP-ChIP_CACO-2_Human	1.10956214
74	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.10883412
75	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.10511731
76	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.10155576
77	CDX2_22108803_ChIP-Seq_LS180_Human	1.08367100
78	FOXP3_21729870_ChIP-Seq_TREG_Human	1.08323098
79	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.07766514
80	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.07300112
81	HTT_18923047_ChIP-ChIP_STHdh_Human	1.05503286
82	AR_20517297_ChIP-Seq_VCAP_Human	1.04155634
83	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	1.03498081
84	TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse	1.03080831
85	SALL4_22934838_ChIP-ChIP_CD34+_Human	1.02611293
86	GATA3_26560356_Chip-Seq_TH1_Human	1.01814784
87	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.01622066
88	RUNX2_22187159_ChIP-Seq_PCA_Human	1.00921143
89	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	0.98267171
90	FOXA1_27270436_Chip-Seq_PROSTATE_Human	0.97760009
91	FOXA1_25329375_ChIP-Seq_VCAP_Human	0.97760009
92	PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse	0.96946411
93	EZH2_27294783_Chip-Seq_NPCs_Mouse	0.95354197
94	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	0.94223907
95	FOXA1_21572438_ChIP-Seq_LNCaP_Human	0.93552668
96	RXR_22108803_ChIP-Seq_LS180_Human	0.93051069
97	TP63_19390658_ChIP-ChIP_HaCaT_Human	0.92470837
98	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	0.92179336
99	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	0.91283516
100	TAL1_26923725_Chip-Seq_HPCs_Mouse	0.91109841

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0009840_abnormal_foam_cell	5.04835964
2	MP0000372_irregular_coat_pigmentation	4.89737450
3	MP0003195_calcinosis	3.76695865
4	MP0008877_abnormal_DNA_methylation	3.22507469
5	MP0009780_abnormal_chondrocyte_physiolo	3.05955296
6	MP0001986_abnormal_taste_sensitivity	2.92657497
7	MP0000516_abnormal_urinary_system	2.79472079
8	MP0005367_renal/urinary_system_phenotyp	2.79472079
9	MP0008058_abnormal_DNA_repair	2.79307784
10	MP0000427_abnormal_hair_cycle	2.56730350
11	MP0003191_abnormal_cellular_cholesterol	2.41963185
12	MP0006292_abnormal_olfactory_placode	2.39141611
13	MP0005646_abnormal_pituitary_gland	2.28950636
14	MP0005360_urolithiasis	2.16514634
15	MP0002736_abnormal_nociception_after	2.12574793
16	MP0005220_abnormal_exocrine_pancreas	2.08626587
17	MP0010352_gastrointestinal_tract_polyps	2.04515789
18	MP0002160_abnormal_reproductive_system	1.91378757
19	MP0001502_abnormal_circadian_rhythm	1.88072117
20	MP0001968_abnormal_touch/_nociception	1.79357042
21	MP0005187_abnormal_penis_morphology	1.74828208
22	MP0006276_abnormal_autonomic_nervous	1.73608702
23	MP0003011_delayed_dark_adaptation	1.70905664
24	MP0003787_abnormal_imprinting	1.64287493
25	MP0004147_increased_porphyrin_level	1.64149732
26	MP0005084_abnormal_gallbladder_morpholo	1.62337650
27	MP0001501_abnormal_sleep_pattern	1.56271220
28	MP0003283_abnormal_digestive_organ	1.53677252
29	MP0001764_abnormal_homeostasis	1.50329573
30	MP0002102_abnormal_ear_morphology	1.49391206
31	MP0000647_abnormal_sebaceous_gland	1.43441901
32	MP0001929_abnormal_gametogenesis	1.42211460
33	MP0008872_abnormal_physiological_respon	1.42193433
34	MP0010094_abnormal_chromosome_stability	1.41672192
35	MP0005410_abnormal_fertilization	1.40198797
36	MP0002163_abnormal_gland_morphology	1.37943441
37	MP0000462_abnormal_digestive_system	1.34198370
38	MP0006072_abnormal_retinal_apoptosis	1.32207293
39	MP0003119_abnormal_digestive_system	1.28997733
40	MP0003718_maternal_effect	1.27696013
41	MP0003868_abnormal_feces_composition	1.26634558
42	MP0003656_abnormal_erythrocyte_physiolo	1.24094157
43	MP0001944_abnormal_pancreas_morphology	1.23674920
44	MP0009046_muscle_twitch	1.20942666
45	MP0005551_abnormal_eye_electrophysiolog	1.19003660
46	MP0001664_abnormal_digestion	1.18755385
47	MP0005174_abnormal_tail_pigmentation	1.13883288
48	MP0006054_spinal_hemorrhage	1.12985338
49	MP0002210_abnormal_sex_determination	1.12885061
50	MP0005389_reproductive_system_phenotype	1.12819132
51	MP0003806_abnormal_nucleotide_metabolis	1.09325615
52	MP0002876_abnormal_thyroid_physiology	1.08040238
53	MP0003136_yellow_coat_color	1.07444962
54	MP0002332_abnormal_exercise_endurance	1.07021481
55	MP0002277_abnormal_respiratory_mucosa	1.06296975
56	MP0009745_abnormal_behavioral_response	1.05928702
57	MP0010329_abnormal_lipoprotein_level	1.05892861
58	MP0005636_abnormal_mineral_homeostasis	1.02292697
59	MP0002693_abnormal_pancreas_physiology	0.99797225
60	MP0001243_abnormal_dermal_layer	0.99097045
61	MP0001299_abnormal_eye_distance/	0.98065079
62	MP0005075_abnormal_melanosome_morpholog	0.97641087
63	MP0003121_genomic_imprinting	0.96060325
64	MP0001119_abnormal_female_reproductive	0.95279384
65	MP0002272_abnormal_nervous_system	0.94592740
66	MP0002928_abnormal_bile_duct	0.94379077
67	MP0003786_premature_aging	0.93890760
68	MP0002837_dystrophic_cardiac_calcinosis	0.93139102
69	MP0000653_abnormal_sex_gland	0.91087652
70	MP0003698_abnormal_male_reproductive	0.89540176
71	MP0005647_abnormal_sex_gland	0.89060232
72	MP0003646_muscle_fatigue	0.88762547
73	MP0004381_abnormal_hair_follicle	0.84690781
74	MP0005376_homeostasis/metabolism_phenot	0.82886248
75	MP0005266_abnormal_metabolism	0.82619811
76	MP0002095_abnormal_skin_pigmentation	0.82187578
77	MP0002090_abnormal_vision	0.81917491
78	MP0004233_abnormal_muscle_weight	0.81440400
79	MP0003950_abnormal_plasma_membrane	0.76495719
80	MP0000631_abnormal_neuroendocrine_gland	0.76305558
81	MP0006036_abnormal_mitochondrial_physio	0.76298122
82	MP0003942_abnormal_urinary_system	0.76167529
83	MP0001666_abnormal_nutrient_absorption	0.75278658
84	MP0002557_abnormal_social/conspecific_i	0.74419022
85	MP0005164_abnormal_response_to	0.73233981
86	MP0000015_abnormal_ear_pigmentation	0.71593127
87	MP0002909_abnormal_adrenal_gland	0.71478930
88	MP0002734_abnormal_mechanical_nocicepti	0.70547232
89	MP0005253_abnormal_eye_physiology	0.70316453
90	MP0001145_abnormal_male_reproductive	0.69826753
91	MP0004510_myositis	0.68768848
92	MP0008007_abnormal_cellular_replicative	0.66081624
93	MP0003252_abnormal_bile_duct	0.65309499
94	MP0003699_abnormal_female_reproductive	0.63499363
95	MP0008004_abnormal_stomach_pH	0.61516886
96	MP0003943_abnormal_hepatobiliary_system	0.61349131
97	MP0004885_abnormal_endolymph	0.61095896
98	MP0009697_abnormal_copulation	0.59775110
99	MP0008875_abnormal_xenobiotic_pharmacok	0.58963756
100	MP0005670_abnormal_white_adipose	0.58666793

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Spontaneous abortion (HP:0005268)	6.41362079
2	Steatorrhea (HP:0002570)	4.31391331
3	Chronic hepatic failure (HP:0100626)	3.86145975
4	Long clavicles (HP:0000890)	3.85567045
5	Neoplasm of the adrenal cortex (HP:0100641)	3.76349598
6	Neoplasm of the adrenal gland (HP:0100631)	3.68973050
7	Microglossia (HP:0000171)	3.55215975
8	Fat malabsorption (HP:0002630)	3.43591863
9	Hyperventilation (HP:0002883)	3.29106101
10	Pancreatic fibrosis (HP:0100732)	3.19233988
11	Upper limb muscle weakness (HP:0003484)	3.14185480
12	Aplasia/Hypoplasia of the tongue (HP:0010295)	3.13099688
13	Exocrine pancreatic insufficiency (HP:0001738)	3.08632745
14	Hypothermia (HP:0002045)	2.97658970
15	Pancreatic cysts (HP:0001737)	2.93694159
16	Hypobetalipoproteinemia (HP:0003563)	2.93426445
17	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.86680051
18	Median cleft lip (HP:0000161)	2.78209901
19	Short tibia (HP:0005736)	2.71122162
20	Hypolipoproteinemia (HP:0010981)	2.66915824
21	Aplasia/Hypoplasia of the pubic bone (HP:0009104)	2.65897257
22	Tetany (HP:0001281)	2.56989618
23	Tetraparesis (HP:0002273)	2.55285789
24	Hepatoblastoma (HP:0002884)	2.54773914
25	Abnormality of endocrine pancreas physiology (HP:0012093)	2.54757417
26	Abnormality of the pancreatic islet cells (HP:0006476)	2.54757417
27	Gaze-evoked nystagmus (HP:0000640)	2.54661436
28	True hermaphroditism (HP:0010459)	2.53846984
29	Ketoacidosis (HP:0001993)	2.52780054
30	Abnormality of the pubic bones (HP:0003172)	2.45535276
31	Posterior subcapsular cataract (HP:0007787)	2.43099681
32	Broad-based gait (HP:0002136)	2.42285106
33	Progressive macrocephaly (HP:0004481)	2.42054455
34	Increased CSF lactate (HP:0002490)	2.38705612
35	Hypomagnesemia (HP:0002917)	2.36456955
36	Acute necrotizing encephalopathy (HP:0006965)	2.30121696
37	Optic neuritis (HP:0100653)	2.29103272
38	Retrobulbar optic neuritis (HP:0100654)	2.29103272
39	Intrahepatic cholestasis (HP:0001406)	2.26400780
40	Hyperglycemia (HP:0003074)	2.24317500
41	Adrenal hypoplasia (HP:0000835)	2.23417601
42	Bifid tongue (HP:0010297)	2.23307075
43	Ketosis (HP:0001946)	2.23187694
44	Colon cancer (HP:0003003)	2.21876652
45	Abnormal biliary tract physiology (HP:0012439)	2.17104194
46	Bile duct proliferation (HP:0001408)	2.17104194
47	Acute encephalopathy (HP:0006846)	2.15257664
48	Hypoalphalipoproteinemia (HP:0003233)	2.14842160
49	Bell-shaped thorax (HP:0001591)	2.12718927
50	Molar tooth sign on MRI (HP:0002419)	2.11764172
51	Abnormality of midbrain morphology (HP:0002418)	2.11764172
52	Medial flaring of the eyebrow (HP:0010747)	2.10792040
53	Abnormality of the alveolar ridges (HP:0006477)	2.08023695
54	Metaphyseal dysplasia (HP:0100255)	2.07567885
55	Hyperinsulinemic hypoglycemia (HP:0000825)	2.05104764
56	Abnormality of dental color (HP:0011073)	2.02779436
57	Volvulus (HP:0002580)	2.02635265
58	Amelogenesis imperfecta (HP:0000705)	2.02016169
59	Increased serum lactate (HP:0002151)	2.01411878
60	3-Methylglutaconic aciduria (HP:0003535)	1.99819107
61	Delayed CNS myelination (HP:0002188)	1.94008843
62	Hypoplastic nipples (HP:0002557)	1.92237314
63	Cystic liver disease (HP:0006706)	1.91794024
64	Abnormality of the astrocytes (HP:0100707)	1.91457895
65	Astrocytoma (HP:0009592)	1.91457895
66	Broad alveolar ridges (HP:0000187)	1.90522879
67	Abnormality of the level of lipoprotein cholesterol (HP:0010979)	1.90437863
68	Hepatocellular necrosis (HP:0001404)	1.88810946
69	Abnormal albumin level (HP:0012116)	1.88717710
70	Hypoalbuminemia (HP:0003073)	1.88717710
71	Short 1st metacarpal (HP:0010034)	1.87535152
72	Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)	1.87535152
73	Stomach cancer (HP:0012126)	1.87516214
74	Mitochondrial inheritance (HP:0001427)	1.85810160
75	Hypoplastic ischia (HP:0003175)	1.85624825
76	Pancreatic islet-cell hyperplasia (HP:0004510)	1.85121804
77	Glycosuria (HP:0003076)	1.85047598
78	Abnormality of urine glucose concentration (HP:0011016)	1.85047598
79	Wrist flexion contracture (HP:0001239)	1.83489550
80	Facial cleft (HP:0002006)	1.82612963
81	Attenuation of retinal blood vessels (HP:0007843)	1.82554591
82	Abnormality of the labia minora (HP:0012880)	1.81573705
83	Concave nail (HP:0001598)	1.79845690
84	Prominent supraorbital ridges (HP:0000336)	1.79431983
85	Abnormal mitochondria in muscle tissue (HP:0008316)	1.78074320
86	Large for gestational age (HP:0001520)	1.77125018
87	Popliteal pterygium (HP:0009756)	1.75827826
88	Bony spicule pigmentary retinopathy (HP:0007737)	1.75009759
89	Abnormality of alanine metabolism (HP:0010916)	1.74819210
90	Hyperalaninemia (HP:0003348)	1.74819210
91	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	1.74819210
92	Abnormality of the ischium (HP:0003174)	1.74352216
93	Occipital encephalocele (HP:0002085)	1.73986734
94	Abnormality of aspartate family amino acid metabolism (HP:0010899)	1.73122375
95	Hypoglycemic seizures (HP:0002173)	1.72673953
96	Abnormal delivery (HP:0001787)	1.71033693
97	Hepatic necrosis (HP:0002605)	1.70997503
98	Abnormality of methionine metabolism (HP:0010901)	1.70971822
99	Tubulointerstitial fibrosis (HP:0005576)	1.70644231
100	Cerebral edema (HP:0002181)	1.70165657

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	5.69930438
2	MAP2K6	3.55063939
3	PDK2	3.18655450
4	MAP4K2	3.13433536
5	ACVR1B	3.10893540
6	BMPR1B	2.56351848
7	STK16	2.55725374
8	STK39	2.42254617
9	NUAK1	2.20915755
10	FGFR2	1.95601431
11	PNCK	1.94578768
12	MST4	1.92189288
13	BRSK2	1.92012164
14	NLK	1.86643227
15	EPHA3	1.57663187
16	MAP3K4	1.57083151
17	MAP3K12	1.56353692
18	FER	1.48494744
19	TRIM28	1.47829744
20	MAP3K2	1.43356470
21	TNIK	1.40311295
22	RPS6KB2	1.37141249
23	CAMKK2	1.35199947
24	CSNK1G1	1.31068510
25	WNK4	1.23379009
26	MAP2K4	1.21025220
27	EIF2AK3	1.19974836
28	ZAK	1.16986649
29	VRK2	1.12272439
30	PBK	1.08193221
31	ERBB3	1.07518227
32	MAP2K3	1.05131965
33	BUB1	1.04436215
34	MYLK	0.99885649
35	CASK	0.97573720
36	MAPK13	0.93110849
37	DYRK2	0.90735269
38	PLK3	0.88658125
39	CDK19	0.87197348
40	PLK2	0.86994280
41	WNK3	0.86915865
42	PINK1	0.85791376
43	OXSR1	0.85363588
44	TGFBR1	0.84885730
45	MAP3K6	0.84837050
46	TRPM7	0.83630082
47	PAK3	0.81870474
48	BCKDK	0.81130401
49	MAP2K7	0.78393803
50	GRK1	0.78021209
51	PLK4	0.76440317
52	CSNK1G3	0.75141852
53	PRKCE	0.74448401
54	MAP3K5	0.71955531
55	MINK1	0.69232435
56	CSNK1G2	0.67984348
57	NTRK3	0.66962760
58	VRK1	0.64620984
59	RPS6KB1	0.64060009
60	TIE1	0.63750476
61	CSNK1A1L	0.62836308
62	PRKCG	0.62625608
63	MAPKAPK5	0.62312965
64	STK38L	0.60213918
65	ADRBK2	0.56892914
66	DAPK2	0.56074149
67	ADRBK1	0.55292045
68	PRKCQ	0.53614241
69	TESK2	0.52663254
70	MELK	0.50857953
71	MAPKAPK3	0.50537649
72	WEE1	0.48796390
73	PTK2B	0.47280761
74	ICK	0.47182963
75	PRKD3	0.46407783
76	PKN1	0.45817980
77	DDR2	0.44886222
78	LIMK1	0.44484111
79	TAOK3	0.41593759
80	PRKACB	0.41575081
81	BMPR2	0.41396319
82	TEC	0.40775896
83	MAPK11	0.39842201
84	PHKG2	0.39338920
85	PHKG1	0.39338920
86	FGFR3	0.39305424
87	ROCK1	0.39150911
88	SCYL2	0.38749483
89	EIF2AK1	0.35225460
90	PASK	0.35165701
91	PRKAA1	0.34953516
92	INSRR	0.34738685
93	PRKCZ	0.34067459
94	WNK1	0.33737118
95	CSNK1D	0.33591727
96	PRKCI	0.32408050
97	CHEK1	0.31898327
98	YES1	0.31808145
99	PLK1	0.31616996
100	CSNK1A1	0.31206854

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	4.51485719
2	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	3.61033373
3	Vitamin B6 metabolism_Homo sapiens_hsa00750	3.38907532
4	Butanoate metabolism_Homo sapiens_hsa00650	3.19881270
5	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.84246044
6	Non-homologous end-joining_Homo sapiens_hsa03450	2.36171275
7	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	2.32725120
8	Propanoate metabolism_Homo sapiens_hsa00640	2.30756697
9	Protein export_Homo sapiens_hsa03060	2.23409109
10	Sulfur metabolism_Homo sapiens_hsa00920	2.13882669
11	Steroid biosynthesis_Homo sapiens_hsa00100	2.11206634
12	RNA polymerase_Homo sapiens_hsa03020	2.02395125
13	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.99827384
14	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.89883782
15	Tryptophan metabolism_Homo sapiens_hsa00380	1.89369233
16	Fatty acid metabolism_Homo sapiens_hsa01212	1.86846594
17	Fatty acid elongation_Homo sapiens_hsa00062	1.83885516
18	Fatty acid biosynthesis_Homo sapiens_hsa00061	1.82506077
19	Basal transcription factors_Homo sapiens_hsa03022	1.79347557
20	Selenocompound metabolism_Homo sapiens_hsa00450	1.72328202
21	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.68565442
22	Proteasome_Homo sapiens_hsa03050	1.62113321
23	Circadian rhythm_Homo sapiens_hsa04710	1.59249444
24	Folate biosynthesis_Homo sapiens_hsa00790	1.59033236
25	Fat digestion and absorption_Homo sapiens_hsa04975	1.55510983
26	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.47270909
27	Homologous recombination_Homo sapiens_hsa03440	1.42017036
28	Oxidative phosphorylation_Homo sapiens_hsa00190	1.32784949
29	Fanconi anemia pathway_Homo sapiens_hsa03460	1.26450551
30	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	1.24709088
31	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	1.19194194
32	One carbon pool by folate_Homo sapiens_hsa00670	1.12998103
33	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.12482082
34	Dorso-ventral axis formation_Homo sapiens_hsa04320	1.11791237
35	Regulation of autophagy_Homo sapiens_hsa04140	1.11699814
36	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.09914796
37	Phototransduction_Homo sapiens_hsa04744	1.09100412
38	Parkinsons disease_Homo sapiens_hsa05012	1.07944562
39	Vitamin digestion and absorption_Homo sapiens_hsa04977	1.07474116
40	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.05591967
41	Peroxisome_Homo sapiens_hsa04146	1.03754166
42	Base excision repair_Homo sapiens_hsa03410	1.03718791
43	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.02629569
44	Fatty acid degradation_Homo sapiens_hsa00071	0.96349230
45	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.96130715
46	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.96099484
47	Retinol metabolism_Homo sapiens_hsa00830	0.93499187
48	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.90780892
49	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.90344804
50	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.89900927
51	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.88204732
52	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.87227599
53	Chemical carcinogenesis_Homo sapiens_hsa05204	0.86597469
54	Insulin secretion_Homo sapiens_hsa04911	0.85569853
55	Purine metabolism_Homo sapiens_hsa00230	0.84866120
56	PPAR signaling pathway_Homo sapiens_hsa03320	0.84713087
57	Metabolic pathways_Homo sapiens_hsa01100	0.77223583
58	Huntingtons disease_Homo sapiens_hsa05016	0.76475256
59	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.73523493
60	Pyruvate metabolism_Homo sapiens_hsa00620	0.73221863
61	Pyrimidine metabolism_Homo sapiens_hsa00240	0.72944803
62	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.70768670
63	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.69750104
64	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.69351764
65	RNA degradation_Homo sapiens_hsa03018	0.67037147
66	Linoleic acid metabolism_Homo sapiens_hsa00591	0.66222366
67	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.66104066
68	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.65820716
69	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	0.63367979
70	beta-Alanine metabolism_Homo sapiens_hsa00410	0.62227807
71	Glutathione metabolism_Homo sapiens_hsa00480	0.59803777
72	Glycerolipid metabolism_Homo sapiens_hsa00561	0.58670061
73	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.57336101
74	Circadian entrainment_Homo sapiens_hsa04713	0.56575309
75	RNA transport_Homo sapiens_hsa03013	0.55745926
76	Collecting duct acid secretion_Homo sapiens_hsa04966	0.52821824
77	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.51601945
78	Complement and coagulation cascades_Homo sapiens_hsa04610	0.49947626
79	GABAergic synapse_Homo sapiens_hsa04727	0.45106136
80	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.44768351
81	Olfactory transduction_Homo sapiens_hsa04740	0.43452086
82	Fructose and mannose metabolism_Homo sapiens_hsa00051	0.43447184
83	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.42065791
84	Dopaminergic synapse_Homo sapiens_hsa04728	0.40152105
85	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.38891764
86	Carbon metabolism_Homo sapiens_hsa01200	0.38258821
87	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.36563796
88	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.35790469
89	Mineral absorption_Homo sapiens_hsa04978	0.34351911
90	Alzheimers disease_Homo sapiens_hsa05010	0.34319270
91	Tyrosine metabolism_Homo sapiens_hsa00350	0.31546277
92	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.29122619
93	Mismatch repair_Homo sapiens_hsa03430	0.27759518
94	ABC transporters_Homo sapiens_hsa02010	0.27631016
95	Serotonergic synapse_Homo sapiens_hsa04726	0.24900250
96	Bile secretion_Homo sapiens_hsa04976	0.23476947
97	Oocyte meiosis_Homo sapiens_hsa04114	0.22524915
98	Ether lipid metabolism_Homo sapiens_hsa00565	0.22484017
99	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.22022066
100	Sphingolipid metabolism_Homo sapiens_hsa00600	0.19878045

NT5CP1

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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