ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	behavioral response to nicotine (GO:0035095)	5.48791766
2	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	4.16283733
3	response to pheromone (GO:0019236)	4.12749394
4	fucose catabolic process (GO:0019317)	4.12121124
5	L-fucose metabolic process (GO:0042354)	4.12121124
6	L-fucose catabolic process (GO:0042355)	4.12121124
7	negative regulation of telomere maintenance (GO:0032205)	3.80752186
8	pyrimidine nucleobase catabolic process (GO:0006208)	3.77871884
9	sulfation (GO:0051923)	3.52827129
10	protein polyglutamylation (GO:0018095)	3.46290468
11	regulation of cilium movement (GO:0003352)	3.37245006
12	behavioral response to ethanol (GO:0048149)	3.29288019
13	epithelial cilium movement (GO:0003351)	3.28391776
14	nucleobase catabolic process (GO:0046113)	3.21433721
15	platelet dense granule organization (GO:0060155)	3.20689510
16	cornea development in camera-type eye (GO:0061303)	3.17972780
17	regulation of telomere maintenance (GO:0032204)	3.15705373
18	dendritic spine morphogenesis (GO:0060997)	3.13384873
19	detection of light stimulus involved in sensory perception (GO:0050962)	3.10965087
20	detection of light stimulus involved in visual perception (GO:0050908)	3.10965087
21	axoneme assembly (GO:0035082)	3.07816762
22	negative regulation of cytosolic calcium ion concentration (GO:0051481)	3.07123778
23	DNA deamination (GO:0045006)	3.03050013
24	protein complex biogenesis (GO:0070271)	3.02736773
25	negative regulation of synaptic transmission, GABAergic (GO:0032229)	3.01960633
26	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.01845302
27	nonmotile primary cilium assembly (GO:0035058)	3.01068281
28	negative regulation of transcription regulatory region DNA binding (GO:2000678)	3.00050342
29	indolalkylamine metabolic process (GO:0006586)	2.99712780
30	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	2.99163061
31	neuronal action potential (GO:0019228)	2.98926215
32	mitochondrial respiratory chain complex I assembly (GO:0032981)	2.95093446
33	NADH dehydrogenase complex assembly (GO:0010257)	2.95093446
34	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	2.95093446
35	kidney morphogenesis (GO:0060993)	2.93342693
36	indole-containing compound catabolic process (GO:0042436)	2.92434869
37	indolalkylamine catabolic process (GO:0046218)	2.92434869
38	tryptophan catabolic process (GO:0006569)	2.92434869
39	preassembly of GPI anchor in ER membrane (GO:0016254)	2.90097215
40	water-soluble vitamin biosynthetic process (GO:0042364)	2.89968112
41	reflex (GO:0060004)	2.89426827
42	regulation of action potential (GO:0098900)	2.86355916
43	neural tube formation (GO:0001841)	2.85515582
44	replication fork processing (GO:0031297)	2.84956556
45	cellular ketone body metabolic process (GO:0046950)	2.79710940
46	synaptic transmission, cholinergic (GO:0007271)	2.78841976
47	cilium morphogenesis (GO:0060271)	2.77803618
48	respiratory chain complex IV assembly (GO:0008535)	2.76088807
49	cilium organization (GO:0044782)	2.74730436
50	protein localization to cilium (GO:0061512)	2.74182132
51	mitochondrial respiratory chain complex assembly (GO:0033108)	2.70152014
52	protein-cofactor linkage (GO:0018065)	2.69723546
53	positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)	2.67856543
54	positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)	2.67289163
55	cilium assembly (GO:0042384)	2.67090833
56	positive regulation of mitochondrial fission (GO:0090141)	2.66170427
57	positive regulation of sodium ion transmembrane transporter activity (GO:2000651)	2.64940383
58	multicellular organism reproduction (GO:0032504)	2.64219705
59	tryptophan metabolic process (GO:0006568)	2.61978725
60	regulation of inhibitory postsynaptic membrane potential (GO:0060080)	2.61622935
61	piRNA metabolic process (GO:0034587)	2.60653646
62	regulation of tyrosine phosphorylation of Stat5 protein (GO:0042522)	2.60131284
63	photoreceptor cell maintenance (GO:0045494)	2.58971658
64	mannosylation (GO:0097502)	2.55887956
65	DNA double-strand break processing (GO:0000729)	2.55672762
66	retinal ganglion cell axon guidance (GO:0031290)	2.53986395
67	negative regulation of mast cell activation (GO:0033004)	2.53877582
68	cAMP catabolic process (GO:0006198)	2.53676527
69	negative regulation of translation involved in gene silencing by miRNA (GO:0035278)	2.52685362
70	negative regulation of translation, ncRNA-mediated (GO:0040033)	2.52685362
71	regulation of translation, ncRNA-mediated (GO:0045974)	2.52685362
72	cilium movement (GO:0003341)	2.51756020
73	regulation of microtubule-based movement (GO:0060632)	2.50105214
74	dopamine transport (GO:0015872)	2.49642431
75	male meiosis (GO:0007140)	2.49341287
76	ketone body metabolic process (GO:1902224)	2.49002864
77	positive regulation of fatty acid transport (GO:2000193)	2.48769847
78	S-adenosylmethionine metabolic process (GO:0046500)	2.48685009
79	ubiquinone biosynthetic process (GO:0006744)	2.47736251
80	cytochrome complex assembly (GO:0017004)	2.47307882
81	GPI anchor metabolic process (GO:0006505)	2.45182193
82	cell proliferation in forebrain (GO:0021846)	2.44971980
83	regulation of hippo signaling (GO:0035330)	2.44360274
84	regulation of activation of Janus kinase activity (GO:0010533)	2.43965826
85	protein K11-linked deubiquitination (GO:0035871)	2.43435009
86	gamma-aminobutyric acid transport (GO:0015812)	2.42980974
87	head development (GO:0060322)	2.40714256
88	positive regulation of action potential (GO:0045760)	2.40701289
89	intraciliary transport (GO:0042073)	2.40700921
90	organic cation transport (GO:0015695)	2.40600900
91	limb bud formation (GO:0060174)	2.39935588
92	positive regulation of protein homodimerization activity (GO:0090073)	2.39931415
93	nephron epithelium morphogenesis (GO:0072088)	2.39673152
94	nephron tubule morphogenesis (GO:0072078)	2.39673152
95	kynurenine metabolic process (GO:0070189)	2.39524323
96	prenylation (GO:0097354)	2.37997192
97	protein prenylation (GO:0018342)	2.37997192
98	amine catabolic process (GO:0009310)	2.36639787
99	cellular biogenic amine catabolic process (GO:0042402)	2.36639787
100	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	2.35390377

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	4.14313471
2	EZH2_22144423_ChIP-Seq_EOC_Human	3.35157926
3	GBX2_23144817_ChIP-Seq_PC3_Human	3.27332411
4	IGF1R_20145208_ChIP-Seq_DFB_Human	2.98950439
5	VDR_22108803_ChIP-Seq_LS180_Human	2.95547791
6	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	2.76842511
7	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.66144995
8	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.48611936
9	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.43410335
10	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.40151842
11	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.27765046
12	EWS_26573619_Chip-Seq_HEK293_Human	2.21535641
13	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.20945851
14	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.20551646
15	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	2.19578081
16	FUS_26573619_Chip-Seq_HEK293_Human	2.15325643
17	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	2.14276234
18	TAF15_26573619_Chip-Seq_HEK293_Human	2.08972166
19	P300_19829295_ChIP-Seq_ESCs_Human	2.08512658
20	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.87135417
21	ER_23166858_ChIP-Seq_MCF-7_Human	1.86994486
22	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.84744432
23	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.71289260
24	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.67255961
25	IRF1_19129219_ChIP-ChIP_H3396_Human	1.63687863
26	BCAT_22108803_ChIP-Seq_LS180_Human	1.63505097
27	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.59640392
28	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.59359206
29	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.59348322
30	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.56809238
31	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.56342813
32	SMAD4_21799915_ChIP-Seq_A2780_Human	1.55691926
33	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.55261694
34	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.53751713
35	CBP_20019798_ChIP-Seq_JUKART_Human	1.53751713
36	AR_25329375_ChIP-Seq_VCAP_Human	1.52239838
37	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.50236013
38	STAT3_23295773_ChIP-Seq_U87_Human	1.48895786
39	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.46015941
40	REST_21632747_ChIP-Seq_MESCs_Mouse	1.44941620
41	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.44768241
42	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.44438095
43	TCF4_23295773_ChIP-Seq_U87_Human	1.43036146
44	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.42985337
45	TP53_22573176_ChIP-Seq_HFKS_Human	1.42494897
46	RNF2_27304074_Chip-Seq_NSC_Mouse	1.39587615
47	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.39361182
48	* GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.37146527
49	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.36977353
50	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.34124805
51	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.33719986
52	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.33357268
53	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.33357268
54	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.32460835
55	TCF4_22108803_ChIP-Seq_LS180_Human	1.31650546
56	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.30141915
57	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.29528858
58	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.29437596
59	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.26857045
60	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.26426787
61	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.25909678
62	MYC_18940864_ChIP-ChIP_HL60_Human	1.25550957
63	RUNX2_22187159_ChIP-Seq_PCA_Human	1.24800931
64	SOX2_19829295_ChIP-Seq_ESCs_Human	1.21773083
65	NANOG_19829295_ChIP-Seq_ESCs_Human	1.21773083
66	AR_21572438_ChIP-Seq_LNCaP_Human	1.20084107
67	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.18786992
68	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.17237269
69	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.16561651
70	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.16561651
71	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.16194766
72	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.15568905
73	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.14305541
74	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.13943990
75	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.13395715
76	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.13189073
77	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.12593029
78	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	1.11013173
79	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.09921529
80	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.09125198
81	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.08852569
82	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.07452819
83	NCOR_22424771_ChIP-Seq_293T_Human	1.06038437
84	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.05791663
85	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.05650595
86	JARID2_20064375_ChIP-Seq_MESCs_Mouse	1.04690681
87	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.04659759
88	AR_20517297_ChIP-Seq_VCAP_Human	1.02013755
89	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.01776511
90	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.00558791
91	REST_18959480_ChIP-ChIP_MESCs_Mouse	0.99378497
92	FOXA1_21572438_ChIP-Seq_LNCaP_Human	0.99012800
93	EED_16625203_ChIP-ChIP_MESCs_Mouse	0.98802093
94	EZH2_27294783_Chip-Seq_ESCs_Mouse	0.96848825
95	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	0.96360953
96	P53_22387025_ChIP-Seq_ESCs_Mouse	0.95867721
97	CRX_20693478_ChIP-Seq_RETINA_Mouse	0.95665516
98	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	0.95570643
99	HOXB7_26014856_ChIP-Seq_BT474_Human	0.95372691
100	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	0.94837916

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002102_abnormal_ear_morphology	3.02579747
2	MP0006292_abnormal_olfactory_placode	2.94913361
3	MP0003195_calcinosis	2.87261943
4	MP0001968_abnormal_touch/_nociception	2.40833184
5	MP0003880_abnormal_central_pattern	2.36197005
6	MP0001529_abnormal_vocalization	2.35149406
7	MP0005551_abnormal_eye_electrophysiolog	2.25908069
8	MP0006276_abnormal_autonomic_nervous	2.12991654
9	MP0002837_dystrophic_cardiac_calcinosis	2.11675863
10	MP0003787_abnormal_imprinting	2.09304847
11	MP0008877_abnormal_DNA_methylation	2.04794231
12	MP0005646_abnormal_pituitary_gland	2.03330277
13	MP0006072_abnormal_retinal_apoptosis	1.99900747
14	MP0005645_abnormal_hypothalamus_physiol	1.92131986
15	MP0004133_heterotaxia	1.90083223
16	MP0005253_abnormal_eye_physiology	1.86395943
17	MP0008872_abnormal_physiological_respon	1.84121830
18	MP0008875_abnormal_xenobiotic_pharmacok	1.81123307
19	MP0004885_abnormal_endolymph	1.79224204
20	MP0009046_muscle_twitch	1.78371715
21	MP0009745_abnormal_behavioral_response	1.76655865
22	MP0001984_abnormal_olfaction	1.75495404
23	MP0002272_abnormal_nervous_system	1.74406338
24	MP0004145_abnormal_muscle_electrophysio	1.68092944
25	MP0004142_abnormal_muscle_tone	1.66912100
26	MP0002638_abnormal_pupillary_reflex	1.65872269
27	MP0002736_abnormal_nociception_after	1.65102932
28	MP0005084_abnormal_gallbladder_morpholo	1.65021996
29	MP0002876_abnormal_thyroid_physiology	1.60706901
30	MP0008789_abnormal_olfactory_epithelium	1.60525711
31	MP0000372_irregular_coat_pigmentation	1.59121953
32	MP0001986_abnormal_taste_sensitivity	1.52853934
33	MP0004147_increased_porphyrin_level	1.51332962
34	MP0000631_abnormal_neuroendocrine_gland	1.50488910
35	MP0002160_abnormal_reproductive_system	1.50337721
36	MP0001188_hyperpigmentation	1.50164450
37	MP0003011_delayed_dark_adaptation	1.44685435
38	MP0002572_abnormal_emotion/affect_behav	1.42609232
39	MP0003136_yellow_coat_color	1.42604004
40	MP0002735_abnormal_chemical_nociception	1.41923521
41	MP0008995_early_reproductive_senescence	1.41040777
42	MP0004043_abnormal_pH_regulation	1.38890828
43	MP0002557_abnormal_social/conspecific_i	1.38378186
44	MP0001486_abnormal_startle_reflex	1.37776280
45	MP0003646_muscle_fatigue	1.34143623
46	MP0002163_abnormal_gland_morphology	1.32825251
47	MP0010386_abnormal_urinary_bladder	1.32311788
48	MP0002733_abnormal_thermal_nociception	1.31447452
49	MP0008775_abnormal_heart_ventricle	1.30074005
50	MP0003635_abnormal_synaptic_transmissio	1.29887128
51	MP0001970_abnormal_pain_threshold	1.29328869
52	MP0000427_abnormal_hair_cycle	1.25440827
53	MP0003122_maternal_imprinting	1.25063263
54	MP0005423_abnormal_somatic_nervous	1.24898962
55	MP0003890_abnormal_embryonic-extraembry	1.23005659
56	MP0002138_abnormal_hepatobiliary_system	1.22209425
57	MP0003121_genomic_imprinting	1.20908639
58	MP0002184_abnormal_innervation	1.20882217
59	MP0005410_abnormal_fertilization	1.20409710
60	MP0000778_abnormal_nervous_system	1.20245751
61	MP0002938_white_spotting	1.19198206
62	MP0001501_abnormal_sleep_pattern	1.19053934
63	MP0005499_abnormal_olfactory_system	1.18135276
64	MP0005394_taste/olfaction_phenotype	1.18135276
65	MP0002063_abnormal_learning/memory/cond	1.17546224
66	MP0005389_reproductive_system_phenotype	1.17393153
67	MP0001485_abnormal_pinna_reflex	1.16880396
68	MP0002928_abnormal_bile_duct	1.16869109
69	MP0002064_seizures	1.10752805
70	MP0005386_behavior/neurological_phenoty	1.07502305
71	MP0004924_abnormal_behavior	1.07502305
72	MP0000230_abnormal_systemic_arterial	1.06012482
73	MP0005174_abnormal_tail_pigmentation	1.04525139
74	MP0005195_abnormal_posterior_eye	1.03419643
75	MP0004215_abnormal_myocardial_fiber	1.02845531
76	MP0005379_endocrine/exocrine_gland_phen	1.00727402
77	MP0002067_abnormal_sensory_capabilities	1.00628253
78	MP0004085_abnormal_heartbeat	1.00111430
79	MP0002734_abnormal_mechanical_nocicepti	0.99082820
80	MP0002751_abnormal_autonomic_nervous	0.98514545
81	MP0002752_abnormal_somatic_nervous	0.98039874
82	MP0003698_abnormal_male_reproductive	0.97664793
83	MP0001905_abnormal_dopamine_level	0.97301648
84	MP0000049_abnormal_middle_ear	0.96653466
85	MP0001502_abnormal_circadian_rhythm	0.96020025
86	MP0000569_abnormal_digit_pigmentation	0.95948904
87	MP0005187_abnormal_penis_morphology	0.95376519
88	MP0001764_abnormal_homeostasis	0.90732753
89	MP0004742_abnormal_vestibular_system	0.90601439
90	MP0000026_abnormal_inner_ear	0.89288509
91	MP0003718_maternal_effect	0.89114180
92	MP0000647_abnormal_sebaceous_gland	0.87584706
93	MP0001919_abnormal_reproductive_system	0.85849421
94	MP0003137_abnormal_impulse_conducting	0.84748548
95	MP0002653_abnormal_ependyma_morphology	0.82419524
96	MP0002095_abnormal_skin_pigmentation	0.82011001
97	MP0002909_abnormal_adrenal_gland	0.81549336
98	MP0009697_abnormal_copulation	0.80530843
99	MP0001929_abnormal_gametogenesis	0.78393171
100	MP0000538_abnormal_urinary_bladder	0.77380538

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Pancreatic cysts (HP:0001737)	4.44758798
2	Abnormality of midbrain morphology (HP:0002418)	4.29418724
3	Molar tooth sign on MRI (HP:0002419)	4.29418724
4	Pancreatic fibrosis (HP:0100732)	4.17986960
5	Type II lissencephaly (HP:0007260)	3.97117401
6	True hermaphroditism (HP:0010459)	3.64934268
7	Nephronophthisis (HP:0000090)	3.63017956
8	Congenital stationary night blindness (HP:0007642)	3.60445787
9	Abnormality of the renal cortex (HP:0011035)	3.37329387
10	Abnormality of the renal medulla (HP:0100957)	3.30028628
11	Medial flaring of the eyebrow (HP:0010747)	3.17227671
12	Hyperventilation (HP:0002883)	3.05009623
13	Chronic hepatic failure (HP:0100626)	2.98365833
14	Retinal dysplasia (HP:0007973)	2.92259008
15	Abnormal drinking behavior (HP:0030082)	2.80004956
16	Polydipsia (HP:0001959)	2.80004956
17	Cystic liver disease (HP:0006706)	2.77120682
18	Abolished electroretinogram (ERG) (HP:0000550)	2.75308299
19	Abnormal rod and cone electroretinograms (HP:0008323)	2.61293497
20	Renal cortical cysts (HP:0000803)	2.61244908
21	Lissencephaly (HP:0001339)	2.60813877
22	Attenuation of retinal blood vessels (HP:0007843)	2.58620260
23	Gait imbalance (HP:0002141)	2.54817047
24	Acute necrotizing encephalopathy (HP:0006965)	2.52293185
25	Pendular nystagmus (HP:0012043)	2.52277862
26	Protruding tongue (HP:0010808)	2.49966166
27	Decreased central vision (HP:0007663)	2.47608075
28	Congenital primary aphakia (HP:0007707)	2.43523303
29	Inability to walk (HP:0002540)	2.40167330
30	Progressive macrocephaly (HP:0004481)	2.37770940
31	Tubular atrophy (HP:0000092)	2.37416964
32	Congenital hepatic fibrosis (HP:0002612)	2.35636315
33	Hypothermia (HP:0002045)	2.34390551
34	Polyuria (HP:0000103)	2.33169703
35	Pachygyria (HP:0001302)	2.31522212
36	Cerebellar dysplasia (HP:0007033)	2.29993457
37	Mitochondrial inheritance (HP:0001427)	2.29921978
38	Increased corneal curvature (HP:0100692)	2.28982480
39	Keratoconus (HP:0000563)	2.28982480
40	Nephrogenic diabetes insipidus (HP:0009806)	2.27608252
41	Acute encephalopathy (HP:0006846)	2.25136877
42	Optic nerve hypoplasia (HP:0000609)	2.20672457
43	Abnormal mitochondria in muscle tissue (HP:0008316)	2.17377412
44	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.17115216
45	Broad-based gait (HP:0002136)	2.15861781
46	Increased CSF lactate (HP:0002490)	2.14889091
47	Genital tract atresia (HP:0001827)	2.14446364
48	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.14444134
49	3-Methylglutaconic aciduria (HP:0003535)	2.14438519
50	Occipital encephalocele (HP:0002085)	2.12148242
51	Postaxial foot polydactyly (HP:0001830)	2.10558565
52	Male pseudohermaphroditism (HP:0000037)	2.09958626
53	Absent speech (HP:0001344)	2.09745347
54	Anencephaly (HP:0002323)	2.08759971
55	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	2.04416750
56	Thyroid-stimulating hormone excess (HP:0002925)	2.02977083
57	Bony spicule pigmentary retinopathy (HP:0007737)	2.02691157
58	Sclerocornea (HP:0000647)	2.00847311
59	Aplasia/Hypoplasia of the tibia (HP:0005772)	1.99871008
60	Methylmalonic acidemia (HP:0002912)	1.99707568
61	Aplasia/hypoplasia of the uterus (HP:0008684)	1.99521116
62	Vaginal atresia (HP:0000148)	1.98830196
63	Abnormality of the labia minora (HP:0012880)	1.97821754
64	Progressive inability to walk (HP:0002505)	1.97347771
65	Chorioretinal atrophy (HP:0000533)	1.95359578
66	Postaxial hand polydactyly (HP:0001162)	1.95224777
67	Oligodactyly (hands) (HP:0001180)	1.94917114
68	Patellar aplasia (HP:0006443)	1.93705101
69	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	1.92872751
70	Abnormality of alanine metabolism (HP:0010916)	1.92872751
71	Hyperalaninemia (HP:0003348)	1.92872751
72	Large for gestational age (HP:0001520)	1.92596047
73	Optic disc pallor (HP:0000543)	1.91977751
74	Concave nail (HP:0001598)	1.90323600
75	Hepatocellular necrosis (HP:0001404)	1.89546052
76	Febrile seizures (HP:0002373)	1.89019471
77	Decreased circulating renin level (HP:0003351)	1.86137767
78	Aplasia/Hypoplasia of the patella (HP:0006498)	1.84978800
79	Abnormal urine output (HP:0012590)	1.84667094
80	Hemiparesis (HP:0001269)	1.80889232
81	Abnormal biliary tract physiology (HP:0012439)	1.80056833
82	Bile duct proliferation (HP:0001408)	1.80056833
83	Furrowed tongue (HP:0000221)	1.79977897
84	Hypoplastic iliac wings (HP:0002866)	1.79944905
85	Gaze-evoked nystagmus (HP:0000640)	1.79919293
86	Poor coordination (HP:0002370)	1.79506098
87	Abnormality of DNA repair (HP:0003254)	1.78592327
88	Abnormal respiratory motile cilium morphology (HP:0005938)	1.75814562
89	Abnormal respiratory epithelium morphology (HP:0012253)	1.75814562
90	Decreased electroretinogram (ERG) amplitude (HP:0000654)	1.75356688
91	Dandy-Walker malformation (HP:0001305)	1.74525963
92	Intestinal atresia (HP:0011100)	1.73498099
93	Methylmalonic aciduria (HP:0012120)	1.72990276
94	Hepatic necrosis (HP:0002605)	1.71837740
95	Polyphagia (HP:0002591)	1.70222454
96	Narrow forehead (HP:0000341)	1.69023283
97	Growth hormone deficiency (HP:0000824)	1.67517825
98	Hypomagnesemia (HP:0002917)	1.67329529
99	Adactyly (HP:0009776)	1.66958215
100	Lipid accumulation in hepatocytes (HP:0006561)	1.65726663

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	4.77983341
2	ADRBK2	2.96890903
3	WNK3	2.93676334
4	MAP4K2	2.91541428
5	TAOK3	2.84747258
6	PINK1	2.81903241
7	BMPR1B	2.70587284
8	MAP3K4	2.62322867
9	NUAK1	2.54509625
10	CASK	2.37182497
11	TLK1	2.35861601
12	MAPK13	2.33218912
13	GRK1	2.32942949
14	WNK4	2.25424199
15	ZAK	1.98618512
16	INSRR	1.75544820
17	MAP2K7	1.74606915
18	MARK1	1.59188766
19	TRIM28	1.57157189
20	TNIK	1.50939454
21	DYRK2	1.42321128
22	ACVR1B	1.42148974
23	PAK3	1.31391957
24	TIE1	1.28272456
25	DAPK2	1.24931799
26	CSNK1G3	1.19912445
27	STK39	1.19764408
28	CSNK1G1	1.16966571
29	OXSR1	1.14146324
30	CSNK1G2	1.11723663
31	CSNK1A1L	1.09588452
32	BCR	1.04736612
33	BCKDK	0.96697322
34	ADRBK1	0.95988156
35	PRKCE	0.92751744
36	PLK2	0.92137661
37	MAP2K6	0.91339496
38	PRKCG	0.90402981
39	NTRK2	0.89777623
40	NTRK3	0.84019982
41	VRK1	0.83984208
42	ERBB3	0.83199814
43	PIK3CA	0.79464996
44	CAMKK2	0.79298554
45	TEC	0.77260976
46	MKNK2	0.75511685
47	PHKG1	0.74799082
48	PHKG2	0.74799082
49	DYRK3	0.74681737
50	EPHA3	0.74240842
51	MAP2K4	0.74220154
52	AKT3	0.73211447
53	PNCK	0.69357333
54	PTK2B	0.69035511
55	STK38L	0.67504179
56	TGFBR1	0.65362013
57	OBSCN	0.64798638
58	FGFR2	0.64087047
59	PRKCQ	0.62395122
60	NLK	0.60154512
61	FLT3	0.59660139
62	MAPK15	0.58801894
63	PKN1	0.56926724
64	TXK	0.55632605
65	RPS6KA5	0.55601222
66	MAPKAPK3	0.54112244
67	CDK19	0.52909770
68	NME1	0.50153227
69	STK11	0.48558589
70	NEK2	0.48340450
71	CAMK2A	0.44349455
72	CSNK1A1	0.44059623
73	MARK3	0.44053780
74	PRKACA	0.43163725
75	CAMK1	0.42448220
76	SGK2	0.41979632
77	PRKAA1	0.40012464
78	EPHB2	0.39330916
79	STK16	0.37866418
80	LATS1	0.37788452
81	SIK2	0.37685588
82	PRKG1	0.37462474
83	MUSK	0.37376065
84	MINK1	0.36421370
85	KIT	0.35977402
86	IKBKB	0.35237672
87	DYRK1A	0.35066753
88	RPS6KA4	0.35020842
89	EPHA4	0.34690451
90	PRKCZ	0.34210505
91	SGK223	0.32861063
92	SGK494	0.32861063
93	IRAK1	0.32459917
94	PLK4	0.32357867
95	CDK8	0.31998418
96	PRKCI	0.30956857
97	CSNK1D	0.30911141
98	CAMK4	0.30688664
99	PRKAA2	0.30487402
100	CAMK2D	0.29898686

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Phototransduction_Homo sapiens_hsa04744	2.83757893
2	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.76885089
3	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	2.59123832
4	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.43982334
5	Nitrogen metabolism_Homo sapiens_hsa00910	2.42167474
6	Nicotine addiction_Homo sapiens_hsa05033	2.28130915
7	Butanoate metabolism_Homo sapiens_hsa00650	2.25991910
8	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.22950144
9	Linoleic acid metabolism_Homo sapiens_hsa00591	2.21886791
10	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	2.21612500
11	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.09096148
12	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	2.02427343
13	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.00483441
14	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	2.00163253
15	Oxidative phosphorylation_Homo sapiens_hsa00190	1.97580920
16	Olfactory transduction_Homo sapiens_hsa04740	1.86023364
17	Protein export_Homo sapiens_hsa03060	1.78237300
18	Basal transcription factors_Homo sapiens_hsa03022	1.74743720
19	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.71739719
20	Fanconi anemia pathway_Homo sapiens_hsa03460	1.69018059
21	Caffeine metabolism_Homo sapiens_hsa00232	1.65530648
22	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.63192883
23	Taste transduction_Homo sapiens_hsa04742	1.62511343
24	Propanoate metabolism_Homo sapiens_hsa00640	1.58264717
25	Parkinsons disease_Homo sapiens_hsa05012	1.55242495
26	Ether lipid metabolism_Homo sapiens_hsa00565	1.54736618
27	Homologous recombination_Homo sapiens_hsa03440	1.49693581
28	Selenocompound metabolism_Homo sapiens_hsa00450	1.48664586
29	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.41393253
30	Morphine addiction_Homo sapiens_hsa05032	1.39394317
31	Peroxisome_Homo sapiens_hsa04146	1.36060020
32	Chemical carcinogenesis_Homo sapiens_hsa05204	1.32913257
33	Tryptophan metabolism_Homo sapiens_hsa00380	1.26293996
34	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.24895246
35	Circadian entrainment_Homo sapiens_hsa04713	1.24035815
36	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.21841298
37	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.19829370
38	Insulin secretion_Homo sapiens_hsa04911	1.18798942
39	GABAergic synapse_Homo sapiens_hsa04727	1.18514781
40	Regulation of autophagy_Homo sapiens_hsa04140	1.16807915
41	ABC transporters_Homo sapiens_hsa02010	1.16803073
42	Retinol metabolism_Homo sapiens_hsa00830	1.16777856
43	Cardiac muscle contraction_Homo sapiens_hsa04260	1.16732114
44	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	1.11192356
45	Glutamatergic synapse_Homo sapiens_hsa04724	1.11008681
46	RNA degradation_Homo sapiens_hsa03018	1.08314024
47	Steroid biosynthesis_Homo sapiens_hsa00100	1.07379610
48	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.99222337
49	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.94000471
50	RNA polymerase_Homo sapiens_hsa03020	0.93829998
51	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.91590196
52	beta-Alanine metabolism_Homo sapiens_hsa00410	0.90028527
53	Alzheimers disease_Homo sapiens_hsa05010	0.88734872
54	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.87088131
55	Serotonergic synapse_Homo sapiens_hsa04726	0.85915438
56	Collecting duct acid secretion_Homo sapiens_hsa04966	0.84290423
57	Huntingtons disease_Homo sapiens_hsa05016	0.83221184
58	Circadian rhythm_Homo sapiens_hsa04710	0.80193270
59	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.78259618
60	One carbon pool by folate_Homo sapiens_hsa00670	0.78008542
61	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.77233146
62	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.76911268
63	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.76695312
64	Dopaminergic synapse_Homo sapiens_hsa04728	0.75627062
65	Salivary secretion_Homo sapiens_hsa04970	0.75426771
66	Calcium signaling pathway_Homo sapiens_hsa04020	0.72811863
67	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.71063961
68	Cocaine addiction_Homo sapiens_hsa05030	0.70363575
69	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.69375171
70	Fat digestion and absorption_Homo sapiens_hsa04975	0.65344683
71	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.64415111
72	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.60704701
73	Metabolic pathways_Homo sapiens_hsa01100	0.57583380
74	Amphetamine addiction_Homo sapiens_hsa05031	0.56331273
75	Purine metabolism_Homo sapiens_hsa00230	0.54597801
76	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.54075587
77	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.52783106
78	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.50794171
79	Glycerolipid metabolism_Homo sapiens_hsa00561	0.49286276
80	Renin secretion_Homo sapiens_hsa04924	0.47854187
81	Sulfur relay system_Homo sapiens_hsa04122	0.47462411
82	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.45653950
83	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.44617763
84	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.43688421
85	cAMP signaling pathway_Homo sapiens_hsa04024	0.43583745
86	Asthma_Homo sapiens_hsa05310	0.43297512
87	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.43147071
88	Mineral absorption_Homo sapiens_hsa04978	0.41861784
89	Cholinergic synapse_Homo sapiens_hsa04725	0.41767837
90	Axon guidance_Homo sapiens_hsa04360	0.41713538
91	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.39763539
92	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.39351807
93	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.39157922
94	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.37260357
95	Tyrosine metabolism_Homo sapiens_hsa00350	0.35139971
96	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.35110249
97	Long-term depression_Homo sapiens_hsa04730	0.34781587
98	Gastric acid secretion_Homo sapiens_hsa04971	0.31401414
99	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.30811975
100	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	0.30705060

UBE2Q2P1

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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