ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	cellular ketone body metabolic process (GO:0046950)	4.37433685
2	peptidyl-histidine modification (GO:0018202)	4.36168810
3	pyrimidine nucleobase catabolic process (GO:0006208)	4.11385613
4	retinal cone cell development (GO:0046549)	4.10143970
5	regulation of hexokinase activity (GO:1903299)	3.92278328
6	regulation of glucokinase activity (GO:0033131)	3.92278328
7	ketone body metabolic process (GO:1902224)	3.84546834
8	presynaptic membrane assembly (GO:0097105)	3.78442674
9	nucleobase catabolic process (GO:0046113)	3.74627629
10	glycosphingolipid biosynthetic process (GO:0006688)	3.72094409
11	inositol phosphate catabolic process (GO:0071545)	3.69251601
12	dopamine transport (GO:0015872)	3.65537506
13	mesenchymal-epithelial cell signaling (GO:0060638)	3.62630923
14	respiratory chain complex IV assembly (GO:0008535)	3.60811407
15	insulin secretion (GO:0030073)	3.59667311
16	inositol phosphate dephosphorylation (GO:0046855)	3.50132863
17	phosphorylated carbohydrate dephosphorylation (GO:0046838)	3.50132863
18	negative regulation of cytosolic calcium ion concentration (GO:0051481)	3.36513692
19	dendritic spine morphogenesis (GO:0060997)	3.34629242
20	protein complex biogenesis (GO:0070271)	3.33565714
21	regulation of branching involved in salivary gland morphogenesis (GO:0060693)	3.27991694
22	cilium morphogenesis (GO:0060271)	3.22513942
23	presynaptic membrane organization (GO:0097090)	3.20720127
24	positive regulation of receptor internalization (GO:0002092)	3.16635815
25	cytochrome complex assembly (GO:0017004)	3.14091548
26	protein localization to cilium (GO:0061512)	3.03803647
27	polyol catabolic process (GO:0046174)	3.03738613
28	intraciliary transport (GO:0042073)	3.03300025
29	phosphate ion homeostasis (GO:0055062)	2.99655575
30	trivalent inorganic anion homeostasis (GO:0072506)	2.99655575
31	calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)	2.98876195
32	peptidyl-cysteine modification (GO:0018198)	2.97032974
33	behavioral response to nicotine (GO:0035095)	2.96937835
34	negative regulation of membrane potential (GO:0045837)	2.96572946
35	L-fucose catabolic process (GO:0042355)	2.92618213
36	fucose catabolic process (GO:0019317)	2.92618213
37	L-fucose metabolic process (GO:0042354)	2.92618213
38	regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)	2.91501676
39	mitochondrial respiratory chain complex I assembly (GO:0032981)	2.90670030
40	NADH dehydrogenase complex assembly (GO:0010257)	2.90670030
41	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	2.90670030
42	mitochondrial respiratory chain complex assembly (GO:0033108)	2.89920698
43	mannosylation (GO:0097502)	2.87203275
44	negative regulation of synaptic transmission, GABAergic (GO:0032229)	2.87107622
45	nonmotile primary cilium assembly (GO:0035058)	2.86521095
46	detection of calcium ion (GO:0005513)	2.85501068
47	keratan sulfate catabolic process (GO:0042340)	2.83949545
48	S-adenosylmethionine metabolic process (GO:0046500)	2.81314804
49	kidney morphogenesis (GO:0060993)	2.80076778
50	acrosome reaction (GO:0007340)	2.77856736
51	toxin metabolic process (GO:0009404)	2.77271167
52	DNA double-strand break processing (GO:0000729)	2.76132287
53	regulation of inhibitory postsynaptic membrane potential (GO:0060080)	2.74892758
54	neuron cell-cell adhesion (GO:0007158)	2.72406671
55	melanosome transport (GO:0032402)	2.71798665
56	regulation of acyl-CoA biosynthetic process (GO:0050812)	2.71402151
57	regulation of receptor internalization (GO:0002090)	2.70682291
58	establishment of melanosome localization (GO:0032401)	2.66668634
59	protein polyglutamylation (GO:0018095)	2.66572791
60	lactate metabolic process (GO:0006089)	2.65803416
61	regulation of coenzyme metabolic process (GO:0051196)	2.61901598
62	regulation of cofactor metabolic process (GO:0051193)	2.61901598
63	regulation of cilium movement (GO:0003352)	2.59716077
64	epithelial cilium movement (GO:0003351)	2.59029655
65	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	2.57880194
66	axoneme assembly (GO:0035082)	2.57853012
67	synapse assembly (GO:0007416)	2.57799246
68	preassembly of GPI anchor in ER membrane (GO:0016254)	2.57397289
69	neuronal action potential (GO:0019228)	2.57269169
70	regulation of feeding behavior (GO:0060259)	2.56348297
71	gamma-aminobutyric acid transport (GO:0015812)	2.55746211
72	regulation of mitochondrial translation (GO:0070129)	2.54070867
73	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	2.53716975
74	pigment granule transport (GO:0051904)	2.53323101
75	coenzyme catabolic process (GO:0009109)	2.53013339
76	zinc ion homeostasis (GO:0055069)	2.51489358
77	peptide hormone secretion (GO:0030072)	2.51153354
78	establishment of pigment granule localization (GO:0051905)	2.49219400
79	GMP metabolic process (GO:0046037)	2.46494333
80	glycolipid biosynthetic process (GO:0009247)	2.46176438
81	short-term memory (GO:0007614)	2.45549008
82	urinary tract smooth muscle contraction (GO:0014848)	2.45540500
83	peptide secretion (GO:0002790)	2.44650921
84	limb bud formation (GO:0060174)	2.44545504
85	positive regulation of amino acid transport (GO:0051957)	2.42741728
86	protein-cofactor linkage (GO:0018065)	2.40930169
87	glycerophospholipid catabolic process (GO:0046475)	2.39685856
88	regulation of microtubule-based movement (GO:0060632)	2.39239098
89	cardiac left ventricle morphogenesis (GO:0003214)	2.39006504
90	sperm motility (GO:0030317)	2.38172402
91	positive regulation of synaptic transmission, dopaminergic (GO:0032226)	2.37841520
92	positive regulation of mitochondrial fission (GO:0090141)	2.37662691
93	cellular response to zinc ion (GO:0071294)	2.37414646
94	regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902235	2.37353824
95	negative regulation of synaptic transmission, glutamatergic (GO:0051967)	2.34925403
96	melanosome localization (GO:0032400)	2.34312645
97	proline transport (GO:0015824)	2.32050354
98	cullin deneddylation (GO:0010388)	2.31230225
99	appendage development (GO:0048736)	2.30536338
100	limb development (GO:0060173)	2.30536338

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	5.86475602
2	GBX2_23144817_ChIP-Seq_PC3_Human	3.93433925
3	ZNF274_21170338_ChIP-Seq_K562_Hela	3.43957905
4	IGF1R_20145208_ChIP-Seq_DFB_Human	3.19647894
5	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.76535027
6	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.70460031
7	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.62685878
8	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.54585946
9	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	2.51295727
10	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.40857085
11	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.38532370
12	FUS_26573619_Chip-Seq_HEK293_Human	2.35035608
13	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	2.04862352
14	P300_19829295_ChIP-Seq_ESCs_Human	2.04122110
15	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.02618588
16	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.01177210
17	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.94375526
18	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.90393430
19	VDR_22108803_ChIP-Seq_LS180_Human	1.89590283
20	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.82090148
21	SMAD4_21799915_ChIP-Seq_A2780_Human	1.73060339
22	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.67262156
23	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.63177799
24	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.62976200
25	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.55688995
26	AR_25329375_ChIP-Seq_VCAP_Human	1.53154383
27	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.52591996
28	EWS_26573619_Chip-Seq_HEK293_Human	1.52336151
29	TP53_22573176_ChIP-Seq_HFKS_Human	1.50623355
30	ER_23166858_ChIP-Seq_MCF-7_Human	1.50167771
31	CBP_20019798_ChIP-Seq_JUKART_Human	1.48563004
32	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.48563004
33	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.47479940
34	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.46389754
35	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.42853818
36	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.42565119
37	STAT3_23295773_ChIP-Seq_U87_Human	1.42257889
38	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.41322093
39	RNF2_27304074_Chip-Seq_NSC_Mouse	1.39825770
40	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.39762514
41	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.38742713
42	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.38198016
43	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.37292871
44	LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.36604179
45	RUNX2_22187159_ChIP-Seq_PCA_Human	1.36040047
46	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.34188730
47	CDX2_19796622_ChIP-Seq_MESCs_Mouse	1.33678561
48	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.33034271
49	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.32706192
50	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.29533270
51	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.27130779
52	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.26326442
53	REST_21632747_ChIP-Seq_MESCs_Mouse	1.24581326
54	REST_18959480_ChIP-ChIP_MESCs_Mouse	1.24124188
55	HTT_18923047_ChIP-ChIP_STHdh_Human	1.23171486
56	TCF4_23295773_ChIP-Seq_U87_Human	1.20795004
57	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.20219463
58	TAL1_26923725_Chip-Seq_HPCs_Mouse	1.18989725
59	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.18909533
60	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.18343525
61	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.16970592
62	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.16970592
63	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	1.14814393
64	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.13697211
65	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.12496875
66	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.09404811
67	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.09384330
68	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.06086797
69	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.06086797
70	BCAT_22108803_ChIP-Seq_LS180_Human	1.05400555
71	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.05219663
72	SOX2_19829295_ChIP-Seq_ESCs_Human	1.04681285
73	NANOG_19829295_ChIP-Seq_ESCs_Human	1.04681285
74	TAF15_26573619_Chip-Seq_HEK293_Human	1.03857566
75	MYC_18940864_ChIP-ChIP_HL60_Human	1.03669132
76	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.03521836
77	NCOR_22424771_ChIP-Seq_293T_Human	1.03102564
78	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.02843787
79	TCF4_22108803_ChIP-Seq_LS180_Human	1.01698120
80	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.01173924
81	HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse	1.00816366
82	TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.99881305
83	AUTS2_25519132_ChIP-Seq_293T-REX_Human	0.99243184
84	ELK1_19687146_ChIP-ChIP_HELA_Human	0.98594363
85	SRF_21415370_ChIP-Seq_HL-1_Mouse	0.97821642
86	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	0.97649722
87	SMAD4_21741376_ChIP-Seq_EPCs_Human	0.97055328
88	CDX2_22108803_ChIP-Seq_LS180_Human	0.97004866
89	SOX2_21211035_ChIP-Seq_LN229_Gbm	0.96298978
90	JUN_21703547_ChIP-Seq_K562_Human	0.93477837
91	ETS1_20019798_ChIP-Seq_JURKAT_Human	0.92373361
92	EZH2_27294783_Chip-Seq_NPCs_Mouse	0.92353011
93	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	0.92096606
94	VDR_23849224_ChIP-Seq_CD4+_Human	0.91320610
95	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	0.91310168
96	KDM2B_26808549_Chip-Seq_REH_Human	0.91062123
97	PRDM14_20953172_ChIP-Seq_ESCs_Human	0.89169563
98	EZH2_22144423_ChIP-Seq_EOC_Human	0.88539362
99	KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse	0.85696016
100	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	0.85064864

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002102_abnormal_ear_morphology	3.35312799
2	MP0001984_abnormal_olfaction	3.08956156
3	MP0006072_abnormal_retinal_apoptosis	2.86505814
4	MP0005645_abnormal_hypothalamus_physiol	2.76492899
5	MP0002638_abnormal_pupillary_reflex	2.73977450
6	MP0002837_dystrophic_cardiac_calcinosis	2.73398451
7	MP0003880_abnormal_central_pattern	2.59823081
8	MP0003787_abnormal_imprinting	2.47571039
9	MP0000013_abnormal_adipose_tissue	2.44480617
10	MP0009046_muscle_twitch	2.42096084
11	MP0004270_analgesia	2.33992764
12	MP0005379_endocrine/exocrine_gland_phen	2.22679270
13	MP0003122_maternal_imprinting	2.22424056
14	MP0001986_abnormal_taste_sensitivity	2.15655995
15	MP0005253_abnormal_eye_physiology	2.15133056
16	MP0002909_abnormal_adrenal_gland	2.13249430
17	MP0002876_abnormal_thyroid_physiology	2.10457157
18	MP0009780_abnormal_chondrocyte_physiolo	2.09786665
19	MP0002822_catalepsy	2.07310242
20	MP0008995_early_reproductive_senescence	2.02062336
21	MP0005499_abnormal_olfactory_system	1.93911107
22	MP0005394_taste/olfaction_phenotype	1.93911107
23	MP0002163_abnormal_gland_morphology	1.89567884
24	MP0009745_abnormal_behavioral_response	1.85040063
25	MP0003195_calcinosis	1.84697617
26	MP0001529_abnormal_vocalization	1.84666758
27	MP0001502_abnormal_circadian_rhythm	1.82127796
28	MP0010386_abnormal_urinary_bladder	1.78649480
29	MP0008877_abnormal_DNA_methylation	1.70936411
30	MP0001968_abnormal_touch/_nociception	1.66843837
31	MP0005551_abnormal_eye_electrophysiolog	1.66084424
32	MP0001905_abnormal_dopamine_level	1.62046960
33	MP0006276_abnormal_autonomic_nervous	1.43979139
34	MP0003121_genomic_imprinting	1.41663468
35	MP0002272_abnormal_nervous_system	1.41178701
36	MP0005248_abnormal_Harderian_gland	1.40764788
37	MP0002734_abnormal_mechanical_nocicepti	1.39896449
38	MP0008789_abnormal_olfactory_epithelium	1.38166998
39	MP0001501_abnormal_sleep_pattern	1.36705060
40	MP0002064_seizures	1.34171761
41	MP0005174_abnormal_tail_pigmentation	1.33568140
42	MP0004147_increased_porphyrin_level	1.32012291
43	MP0004043_abnormal_pH_regulation	1.29512307
44	MP0003635_abnormal_synaptic_transmissio	1.26616341
45	MP0001756_abnormal_urination	1.25446740
46	MP0001764_abnormal_homeostasis	1.22589977
47	MP0001970_abnormal_pain_threshold	1.19748543
48	MP0002557_abnormal_social/conspecific_i	1.19223970
49	MP0002233_abnormal_nose_morphology	1.16139020
50	MP0002160_abnormal_reproductive_system	1.14663768
51	MP0002572_abnormal_emotion/affect_behav	1.14291343
52	MP0005187_abnormal_penis_morphology	1.10510575
53	MP0000631_abnormal_neuroendocrine_gland	1.09468764
54	MP0002735_abnormal_chemical_nociception	1.09350445
55	MP0002751_abnormal_autonomic_nervous	1.07910164
56	MP0001270_distended_abdomen	1.07732032
57	MP0002067_abnormal_sensory_capabilities	1.06167351
58	MP0004133_heterotaxia	1.05901125
59	MP0002733_abnormal_thermal_nociception	1.04773858
60	MP0002277_abnormal_respiratory_mucosa	1.03861656
61	MP0004215_abnormal_myocardial_fiber	1.03543637
62	MP0001486_abnormal_startle_reflex	1.02733058
63	MP0000778_abnormal_nervous_system	1.02188090
64	MP0000015_abnormal_ear_pigmentation	1.00275005
65	MP0002063_abnormal_learning/memory/cond	1.00188992
66	MP0002184_abnormal_innervation	0.99765969
67	MP0002736_abnormal_nociception_after	0.99603953
68	MP0002069_abnormal_eating/drinking_beha	0.99241319
69	MP0005535_abnormal_body_temperature	0.99081628
70	MP0005386_behavior/neurological_phenoty	0.98873595
71	MP0004924_abnormal_behavior	0.98873595
72	MP0003786_premature_aging	0.98714753
73	MP0004142_abnormal_muscle_tone	0.97283658
74	MP0001944_abnormal_pancreas_morphology	0.96837661
75	MP0002139_abnormal_hepatobiliary_system	0.96616445
76	MP0005646_abnormal_pituitary_gland	0.95334714
77	MP0004085_abnormal_heartbeat	0.92039810
78	MP0005332_abnormal_amino_acid	0.90840383
79	MP0002693_abnormal_pancreas_physiology	0.89016965
80	MP0004811_abnormal_neuron_physiology	0.83452581
81	MP0002928_abnormal_bile_duct	0.83109742
82	MP0008872_abnormal_physiological_respon	0.82733939
83	MP0006036_abnormal_mitochondrial_physio	0.82656980
84	MP0005391_vision/eye_phenotype	0.81952544
85	MP0002332_abnormal_exercise_endurance	0.81371811
86	MP0002078_abnormal_glucose_homeostasis	0.81247559
87	MP0002882_abnormal_neuron_morphology	0.79629502
88	MP0010329_abnormal_lipoprotein_level	0.78266244
89	MP0003698_abnormal_male_reproductive	0.75879220
90	MP0005503_abnormal_tendon_morphology	0.75721853
91	MP0004134_abnormal_chest_morphology	0.74457089
92	MP0006035_abnormal_mitochondrial_morpho	0.74358448
93	MP0008875_abnormal_xenobiotic_pharmacok	0.74320852
94	MP0005266_abnormal_metabolism	0.74244838
95	MP0005389_reproductive_system_phenotype	0.73047223
96	MP0002752_abnormal_somatic_nervous	0.71883684
97	MP0004859_abnormal_synaptic_plasticity	0.71421417
98	MP0008961_abnormal_basal_metabolism	0.69603646
99	MP0000681_abnormal_thyroid_gland	0.69220641
100	MP0003137_abnormal_impulse_conducting	0.68201832

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Progressive macrocephaly (HP:0004481)	3.98764311
2	Acute necrotizing encephalopathy (HP:0006965)	3.98187561
3	Acute encephalopathy (HP:0006846)	3.88186483
4	Metaphyseal dysplasia (HP:0100255)	3.55486210
5	Pancreatic fibrosis (HP:0100732)	3.30311754
6	Abnormal mitochondria in muscle tissue (HP:0008316)	3.27330164
7	Intestinal atresia (HP:0011100)	3.19105412
8	True hermaphroditism (HP:0010459)	3.10042944
9	Abnormality of midbrain morphology (HP:0002418)	3.09916517
10	Molar tooth sign on MRI (HP:0002419)	3.09916517
11	Mitochondrial inheritance (HP:0001427)	3.06877893
12	Progressive inability to walk (HP:0002505)	3.00598400
13	Inability to walk (HP:0002540)	2.96122893
14	Polyphagia (HP:0002591)	2.95188075
15	Pancreatic cysts (HP:0001737)	2.87959465
16	Ketoacidosis (HP:0001993)	2.85090100
17	Hyperglycinemia (HP:0002154)	2.82725892
18	Delayed gross motor development (HP:0002194)	2.79412246
19	Nephronophthisis (HP:0000090)	2.77198606
20	Abnormality of vitamin B metabolism (HP:0004340)	2.72681505
21	Renal Fanconi syndrome (HP:0001994)	2.70092612
22	Lipid accumulation in hepatocytes (HP:0006561)	2.65041345
23	Hepatic necrosis (HP:0002605)	2.63303436
24	Methylmalonic acidemia (HP:0002912)	2.62015698
25	Hepatocellular necrosis (HP:0001404)	2.61271450
26	Increased hepatocellular lipid droplets (HP:0006565)	2.61197259
27	Increased CSF lactate (HP:0002490)	2.57730110
28	Medial flaring of the eyebrow (HP:0010747)	2.56995330
29	Hyperventilation (HP:0002883)	2.56288844
30	Ketosis (HP:0001946)	2.52682258
31	Abnormality of the renal medulla (HP:0100957)	2.50036880
32	Failure to thrive in infancy (HP:0001531)	2.49862586
33	Occipital encephalocele (HP:0002085)	2.49436458
34	Abnormality of aromatic amino acid family metabolism (HP:0004338)	2.49141065
35	EEG with generalized epileptiform discharges (HP:0011198)	2.49014363
36	Epileptiform EEG discharges (HP:0011182)	2.47072850
37	Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)	2.45301631
38	Agitation (HP:0000713)	2.44047475
39	Abnormality of the renal cortex (HP:0011035)	2.42671169
40	Pendular nystagmus (HP:0012043)	2.38714683
41	Decreased activity of mitochondrial respiratory chain (HP:0008972)	2.34966360
42	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	2.34966360
43	Abnormal hair whorl (HP:0010721)	2.34310847
44	Hypsarrhythmia (HP:0002521)	2.32459900
45	Muscular hypotonia of the trunk (HP:0008936)	2.30511712
46	Hypothermia (HP:0002045)	2.25776279
47	Pachygyria (HP:0001302)	2.25506874
48	Large for gestational age (HP:0001520)	2.23444695
49	Tubulointerstitial nephritis (HP:0001970)	2.22345771
50	Hypoglycemic coma (HP:0001325)	2.19506347
51	Bile duct proliferation (HP:0001408)	2.19245561
52	Abnormal biliary tract physiology (HP:0012439)	2.19245561
53	Gait imbalance (HP:0002141)	2.18562709
54	Cerebral edema (HP:0002181)	2.17566814
55	Polydipsia (HP:0001959)	2.15981281
56	Abnormal drinking behavior (HP:0030082)	2.15981281
57	Tubulointerstitial abnormality (HP:0001969)	2.14800814
58	Glycosuria (HP:0003076)	2.14014230
59	Abnormality of urine glucose concentration (HP:0011016)	2.14014230
60	Urinary urgency (HP:0000012)	2.13170345
61	Congenital primary aphakia (HP:0007707)	2.12262324
62	Methylmalonic aciduria (HP:0012120)	2.11594084
63	Chronic hepatic failure (HP:0100626)	2.11367877
64	Hyperglycemia (HP:0003074)	2.10132438
65	Cystic liver disease (HP:0006706)	2.08328799
66	Drooling (HP:0002307)	2.05449208
67	Arthropathy (HP:0003040)	2.03189337
68	Ulnar claw (HP:0001178)	2.01584226
69	Male pseudohermaphroditism (HP:0000037)	2.00363003
70	Nephrogenic diabetes insipidus (HP:0009806)	1.99541782
71	Absent frontal sinuses (HP:0002688)	1.98594777
72	Abnormality of the vitamin B12 metabolism (HP:0004341)	1.95688712
73	Hyperinsulinemic hypoglycemia (HP:0000825)	1.94379776
74	Tubular atrophy (HP:0000092)	1.94301622
75	Decreased number of large peripheral myelinated nerve fibers (HP:0003387)	1.93079813
76	Optic disc pallor (HP:0000543)	1.91982756
77	Lissencephaly (HP:0001339)	1.90336306
78	Respiratory failure (HP:0002878)	1.89579320
79	Type II lissencephaly (HP:0007260)	1.88841330
80	Abnormality of the frontal sinuses (HP:0002687)	1.88318864
81	Limb hypertonia (HP:0002509)	1.88281724
82	Abnormal rod and cone electroretinograms (HP:0008323)	1.85370732
83	Aplasia/hypoplasia of the uterus (HP:0008684)	1.84793789
84	Median cleft lip (HP:0000161)	1.84550822
85	Renal cortical cysts (HP:0000803)	1.83466155
86	Excessive salivation (HP:0003781)	1.82564643
87	Genital tract atresia (HP:0001827)	1.82255048
88	Tubulointerstitial fibrosis (HP:0005576)	1.82216740
89	Lethargy (HP:0001254)	1.81646085
90	Muscle abnormality related to mitochondrial dysfunction (HP:0003800)	1.81494524
91	Generalized myoclonic seizures (HP:0002123)	1.81230267
92	Generalized aminoaciduria (HP:0002909)	1.79799045
93	Abnormality of vitamin metabolism (HP:0100508)	1.78857472
94	Aplasia/Hypoplasia of the tongue (HP:0010295)	1.76706952
95	Pancreatic islet-cell hyperplasia (HP:0004510)	1.75346281
96	Hemiparesis (HP:0001269)	1.74115933
97	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	1.73579712
98	Amblyopia (HP:0000646)	1.73385462
99	Prominent metopic ridge (HP:0005487)	1.73098308
100	Sclerocornea (HP:0000647)	1.73089709

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	5.47415795
2	PINK1	4.15649404
3	MAP4K2	4.01582941
4	EPHA3	3.48603620
5	MAP2K7	2.97074901
6	CASK	2.44413897
7	CSNK1G1	2.43468333
8	CSNK1G3	2.34636447
9	CSNK1G2	2.26780236
10	ADRBK2	2.19030894
11	GRK1	2.18008342
12	MAP3K4	2.15080103
13	MARK1	2.05243478
14	FGFR2	1.94360953
15	BMPR1B	1.94036210
16	WNK3	1.92763339
17	MAPK13	1.81259932
18	STK38L	1.76414575
19	BCR	1.74991645
20	PAK3	1.65013631
21	RPS6KA4	1.52065823
22	DYRK2	1.48592423
23	PHKG1	1.41813836
24	PHKG2	1.41813836
25	TNIK	1.41433546
26	DAPK2	1.39950000
27	MYLK	1.34022566
28	CSNK1A1L	1.26962211
29	LATS1	1.26185814
30	MAP3K2	1.23355008
31	SGK494	1.11658121
32	SGK223	1.11658121
33	LIMK1	1.07021998
34	MST4	1.05774132
35	PRKCG	1.05506187
36	PRKCE	1.03260169
37	DYRK3	1.02252019
38	NLK	0.96986463
39	FER	0.94896348
40	NTRK2	0.94185437
41	YES1	0.92258475
42	INSRR	0.92078813
43	ZAK	0.90448989
44	OBSCN	0.86183479
45	RPS6KA5	0.85760969
46	TRIM28	0.83742401
47	CDK3	0.81209669
48	MKNK2	0.79094064
49	NEK1	0.77735645
50	BCKDK	0.72412518
51	TIE1	0.71963876
52	CAMK2D	0.70088560
53	ERBB3	0.69274004
54	CSNK1A1	0.68909971
55	MARK3	0.67533068
56	SGK2	0.66970352
57	PLK3	0.65533099
58	IRAK1	0.65059060
59	CSNK1D	0.62318569
60	EPHB1	0.62142511
61	MAP3K12	0.60251707
62	MAP2K4	0.59738921
63	CAMK1	0.59476391
64	FGFR3	0.58763401
65	NTRK3	0.58624213
66	CAMK2G	0.56599299
67	CAMK2A	0.56494714
68	STK16	0.56319827
69	PRKG2	0.55865595
70	STK3	0.55738418
71	PLK2	0.54138429
72	NUAK1	0.50802302
73	CCNB1	0.50613151
74	NEK2	0.49542586
75	OXSR1	0.49301884
76	CAMK2B	0.46875442
77	PKN1	0.46765119
78	VRK1	0.46620768
79	PRKG1	0.45449475
80	CDK5	0.43568087
81	PRKAA1	0.43293928
82	PTK2B	0.43242886
83	MAP3K3	0.42243676
84	PRKACB	0.42101280
85	ADRBK1	0.39580685
86	LMTK2	0.39080498
87	EPHA4	0.35389287
88	GSK3A	0.35184825
89	MARK2	0.34883952
90	WNK4	0.34304491
91	CAMK4	0.34262624
92	MAPK15	0.31995067
93	ATM	0.30833907
94	PRKACA	0.30587955
95	ROCK1	0.29127490
96	CDK14	0.28437065
97	GRK5	0.24821078
98	MAP3K7	0.24440208
99	ABL1	0.24119206
100	DYRK1A	0.24107379

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Maturity onset diabetes of the young_Homo sapiens_hsa04950	3.13452442
2	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	3.10983527
3	Butanoate metabolism_Homo sapiens_hsa00650	2.90723475
4	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.51388192
5	Oxidative phosphorylation_Homo sapiens_hsa00190	2.49700298
6	Protein export_Homo sapiens_hsa03060	2.37328326
7	Parkinsons disease_Homo sapiens_hsa05012	2.13127375
8	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	2.12964406
9	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	2.07638061
10	Nicotine addiction_Homo sapiens_hsa05033	2.07094330
11	Folate biosynthesis_Homo sapiens_hsa00790	1.92555448
12	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.89737944
13	Sulfur metabolism_Homo sapiens_hsa00920	1.81121914
14	Phototransduction_Homo sapiens_hsa04744	1.72989313
15	Insulin secretion_Homo sapiens_hsa04911	1.71674888
16	GABAergic synapse_Homo sapiens_hsa04727	1.68796825
17	Selenocompound metabolism_Homo sapiens_hsa00450	1.68605513
18	Collecting duct acid secretion_Homo sapiens_hsa04966	1.66499504
19	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.60844346
20	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.60520852
21	Propanoate metabolism_Homo sapiens_hsa00640	1.58918356
22	Synaptic vesicle cycle_Homo sapiens_hsa04721	1.52255963
23	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.44391309
24	Basal transcription factors_Homo sapiens_hsa03022	1.33633727
25	Circadian entrainment_Homo sapiens_hsa04713	1.26197797
26	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.25303388
27	Olfactory transduction_Homo sapiens_hsa04740	1.24685539
28	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	1.23731828
29	Alzheimers disease_Homo sapiens_hsa05010	1.23154367
30	Nitrogen metabolism_Homo sapiens_hsa00910	1.21045514
31	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	1.19991193
32	Ether lipid metabolism_Homo sapiens_hsa00565	1.19062858
33	RNA polymerase_Homo sapiens_hsa03020	1.15650060
34	Fatty acid elongation_Homo sapiens_hsa00062	1.15327149
35	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	1.15068367
36	Caffeine metabolism_Homo sapiens_hsa00232	1.11686253
37	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.10626723
38	Morphine addiction_Homo sapiens_hsa05032	1.09831785
39	Regulation of autophagy_Homo sapiens_hsa04140	1.07389299
40	Taste transduction_Homo sapiens_hsa04742	1.07034223
41	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.06903685
42	Huntingtons disease_Homo sapiens_hsa05016	1.02309838
43	Cocaine addiction_Homo sapiens_hsa05030	1.01455036
44	Chemical carcinogenesis_Homo sapiens_hsa05204	1.01342936
45	Tryptophan metabolism_Homo sapiens_hsa00380	1.00022107
46	Linoleic acid metabolism_Homo sapiens_hsa00591	0.99860757
47	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.98666959
48	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.97466114
49	Glutathione metabolism_Homo sapiens_hsa00480	0.96596164
50	Dopaminergic synapse_Homo sapiens_hsa04728	0.96218408
51	Peroxisome_Homo sapiens_hsa04146	0.95971836
52	Amphetamine addiction_Homo sapiens_hsa05031	0.95831484
53	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.95821196
54	Glutamatergic synapse_Homo sapiens_hsa04724	0.93636483
55	Fanconi anemia pathway_Homo sapiens_hsa03460	0.92818951
56	beta-Alanine metabolism_Homo sapiens_hsa00410	0.91982556
57	Vibrio cholerae infection_Homo sapiens_hsa05110	0.91244201
58	RNA degradation_Homo sapiens_hsa03018	0.89695436
59	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.89385751
60	Serotonergic synapse_Homo sapiens_hsa04726	0.86318821
61	Circadian rhythm_Homo sapiens_hsa04710	0.86215536
62	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.84503279
63	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.84110313
64	Arginine and proline metabolism_Homo sapiens_hsa00330	0.83417270
65	Retinol metabolism_Homo sapiens_hsa00830	0.83339362
66	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.82874192
67	Cardiac muscle contraction_Homo sapiens_hsa04260	0.81366697
68	Metabolic pathways_Homo sapiens_hsa01100	0.79982690
69	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.79958632
70	ABC transporters_Homo sapiens_hsa02010	0.76553786
71	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.76382689
72	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.75371180
73	Glycosaminoglycan degradation_Homo sapiens_hsa00531	0.75276128
74	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.73596357
75	Sphingolipid metabolism_Homo sapiens_hsa00600	0.73439606
76	Purine metabolism_Homo sapiens_hsa00230	0.72739189
77	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.72281203
78	Type II diabetes mellitus_Homo sapiens_hsa04930	0.72143689
79	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.69981551
80	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.65819277
81	Renin secretion_Homo sapiens_hsa04924	0.63095944
82	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.62332033
83	Fatty acid degradation_Homo sapiens_hsa00071	0.58218065
84	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.57943974
85	Axon guidance_Homo sapiens_hsa04360	0.56624408
86	Fatty acid metabolism_Homo sapiens_hsa01212	0.55844940
87	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.53306070
88	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.46781681
89	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.45588313
90	Salivary secretion_Homo sapiens_hsa04970	0.45026056
91	Oocyte meiosis_Homo sapiens_hsa04114	0.44143786
92	Gap junction_Homo sapiens_hsa04540	0.42451652
93	Homologous recombination_Homo sapiens_hsa03440	0.40333549
94	Tight junction_Homo sapiens_hsa04530	0.37680709
95	Long-term depression_Homo sapiens_hsa04730	0.37380025
96	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.37235518
97	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	0.36912197
98	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.36272947
99	Calcium signaling pathway_Homo sapiens_hsa04020	0.35546048
100	Alcoholism_Homo sapiens_hsa05034	0.35509680

UBE2Q2P6

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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