ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	behavioral response to nicotine (GO:0035095)	4.91754939
2	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	4.07943086
3	response to pheromone (GO:0019236)	3.98595389
4	pyrimidine nucleobase catabolic process (GO:0006208)	3.81313057
5	limb bud formation (GO:0060174)	3.68218402
6	DNA double-strand break processing (GO:0000729)	3.67416224
7	epithelial cilium movement (GO:0003351)	3.66940694
8	neural tube formation (GO:0001841)	3.65789488
9	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.43352837
10	intraciliary transport (GO:0042073)	3.42959788
11	L-fucose metabolic process (GO:0042354)	3.39644728
12	L-fucose catabolic process (GO:0042355)	3.39644728
13	fucose catabolic process (GO:0019317)	3.39644728
14	somite development (GO:0061053)	3.38216744
15	cilium morphogenesis (GO:0060271)	3.29264035
16	replication fork processing (GO:0031297)	3.26505424
17	nonmotile primary cilium assembly (GO:0035058)	3.25946728
18	regulation of cilium movement (GO:0003352)	3.17281913
19	nucleobase catabolic process (GO:0046113)	3.16827697
20	behavioral response to ethanol (GO:0048149)	3.16586035
21	water-soluble vitamin biosynthetic process (GO:0042364)	3.14528681
22	negative regulation of transcription regulatory region DNA binding (GO:2000678)	3.12709194
23	kidney morphogenesis (GO:0060993)	3.07284017
24	protein localization to cilium (GO:0061512)	3.07278197
25	platelet dense granule organization (GO:0060155)	3.07200712
26	cilium organization (GO:0044782)	3.02396169
27	cilium assembly (GO:0042384)	2.99238348
28	cilium movement (GO:0003341)	2.98718300
29	pattern specification involved in kidney development (GO:0061004)	2.98342217
30	presynaptic membrane assembly (GO:0097105)	2.97168790
31	cornea development in camera-type eye (GO:0061303)	2.94199404
32	positive regulation of mitochondrial fission (GO:0090141)	2.85876668
33	axoneme assembly (GO:0035082)	2.85404562
34	ubiquinone metabolic process (GO:0006743)	2.82985115
35	protein polyglutamylation (GO:0018095)	2.80396164
36	reciprocal meiotic recombination (GO:0007131)	2.79698647
37	reciprocal DNA recombination (GO:0035825)	2.79698647
38	olfactory bulb development (GO:0021772)	2.78634285
39	protein-cofactor linkage (GO:0018065)	2.76717445
40	resolution of meiotic recombination intermediates (GO:0000712)	2.76173925
41	segment specification (GO:0007379)	2.75584127
42	multicellular organism reproduction (GO:0032504)	2.72969560
43	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	2.72905930
44	kynurenine metabolic process (GO:0070189)	2.72472473
45	respiratory chain complex IV assembly (GO:0008535)	2.71630159
46	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	2.70787162
47	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	2.70787162
48	mitochondrial respiratory chain complex I assembly (GO:0032981)	2.69762276
49	NADH dehydrogenase complex assembly (GO:0010257)	2.69762276
50	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	2.69762276
51	protein complex biogenesis (GO:0070271)	2.68817965
52	retinal ganglion cell axon guidance (GO:0031290)	2.67384518
53	neuron fate determination (GO:0048664)	2.66417512
54	recombinational repair (GO:0000725)	2.65001065
55	ubiquinone biosynthetic process (GO:0006744)	2.64632751
56	regulation of telomere maintenance (GO:0032204)	2.63174127
57	double-strand break repair via homologous recombination (GO:0000724)	2.61665996
58	regulation of nuclear cell cycle DNA replication (GO:0033262)	2.61017797
59	negative regulation of telomere maintenance (GO:0032205)	2.61011158
60	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	2.60843669
61	cilium or flagellum-dependent cell motility (GO:0001539)	2.59940913
62	centriole replication (GO:0007099)	2.59898264
63	establishment of protein localization to mitochondrial membrane (GO:0090151)	2.59750467
64	presynaptic membrane organization (GO:0097090)	2.59630009
65	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	2.58232421
66	spinal cord development (GO:0021510)	2.57513426
67	indolalkylamine metabolic process (GO:0006586)	2.55289043
68	adaptation of signaling pathway (GO:0023058)	2.55091638
69	startle response (GO:0001964)	2.55072567
70	tryptophan catabolic process (GO:0006569)	2.54762359
71	indole-containing compound catabolic process (GO:0042436)	2.54762359
72	indolalkylamine catabolic process (GO:0046218)	2.54762359
73	photoreceptor cell development (GO:0042461)	2.54448741
74	photoreceptor cell maintenance (GO:0045494)	2.53514542
75	mitochondrial respiratory chain complex assembly (GO:0033108)	2.48906411
76	preassembly of GPI anchor in ER membrane (GO:0016254)	2.48449433
77	otic vesicle formation (GO:0030916)	2.46145628
78	acrosome reaction (GO:0007340)	2.43757458
79	calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)	2.42954235
80	regulation of action potential (GO:0098900)	2.41169458
81	appendage development (GO:0048736)	2.41143388
82	limb development (GO:0060173)	2.41143388
83	negative regulation of synaptic transmission, GABAergic (GO:0032229)	2.40756848
84	transmission of nerve impulse (GO:0019226)	2.40729847
85	synaptic transmission, cholinergic (GO:0007271)	2.40244152
86	cullin deneddylation (GO:0010388)	2.40223239
87	regulation of glucokinase activity (GO:0033131)	2.40006998
88	regulation of hexokinase activity (GO:1903299)	2.40006998
89	postsynaptic membrane organization (GO:0001941)	2.39739376
90	detection of light stimulus involved in sensory perception (GO:0050962)	2.38612582
91	detection of light stimulus involved in visual perception (GO:0050908)	2.38612582
92	DNA deamination (GO:0045006)	2.38177046
93	retinal cone cell development (GO:0046549)	2.38036470
94	embryonic epithelial tube formation (GO:0001838)	2.36736792
95	inner ear receptor stereocilium organization (GO:0060122)	2.36341880
96	anterograde synaptic vesicle transport (GO:0048490)	2.34586263
97	isoprenoid biosynthetic process (GO:0008299)	2.33752622
98	hindbrain development (GO:0030902)	2.33235943
99	cell proliferation in forebrain (GO:0021846)	2.32453054
100	neuronal action potential (GO:0019228)	2.32327177

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	3.65211717
2	VDR_22108803_ChIP-Seq_LS180_Human	3.27810390
3	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	3.22204560
4	IGF1R_20145208_ChIP-Seq_DFB_Human	3.06642354
5	GBX2_23144817_ChIP-Seq_PC3_Human	2.90029198
6	EZH2_22144423_ChIP-Seq_EOC_Human	2.68171316
7	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	2.63198499
8	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.62135259
9	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.60582951
10	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.55693442
11	FUS_26573619_Chip-Seq_HEK293_Human	2.48199234
12	EWS_26573619_Chip-Seq_HEK293_Human	2.45136479
13	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.34893077
14	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.26140079
15	TAF15_26573619_Chip-Seq_HEK293_Human	2.25464995
16	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.23832173
17	P300_19829295_ChIP-Seq_ESCs_Human	2.19169866
18	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.16259672
19	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	2.11084237
20	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.04512088
21	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.88690962
22	ER_23166858_ChIP-Seq_MCF-7_Human	1.75907116
23	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.75496818
24	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.73807978
25	CBP_20019798_ChIP-Seq_JUKART_Human	1.73807978
26	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.71462208
27	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.71281486
28	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.69356567
29	IRF1_19129219_ChIP-ChIP_H3396_Human	1.68441216
30	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.62061756
31	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.60363219
32	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.57612360
33	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.54742601
34	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.50151548
35	SMAD4_21799915_ChIP-Seq_A2780_Human	1.50000611
36	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.49812682
37	BCAT_22108803_ChIP-Seq_LS180_Human	1.49466525
38	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.49335661
39	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.49021390
40	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.48991572
41	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.46233390
42	MYC_18940864_ChIP-ChIP_HL60_Human	1.44768924
43	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.44303809
44	RNF2_27304074_Chip-Seq_NSC_Mouse	1.44020911
45	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.43969073
46	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.42221493
47	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.42221493
48	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.42079821
49	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.40863090
50	STAT3_23295773_ChIP-Seq_U87_Human	1.40484875
51	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.39828938
52	ELK1_19687146_ChIP-ChIP_HELA_Human	1.39365643
53	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.38482386
54	TP53_22573176_ChIP-Seq_HFKS_Human	1.37898897
55	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.36810770
56	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.36331702
57	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.36205442
58	TCF4_23295773_ChIP-Seq_U87_Human	1.34172064
59	AR_25329375_ChIP-Seq_VCAP_Human	1.33979907
60	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.33328235
61	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.32780296
62	TCF4_22108803_ChIP-Seq_LS180_Human	1.27717323
63	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.26735079
64	RBPJ_22232070_ChIP-Seq_NCS_Mouse	1.23173241
65	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.22818331
66	RUNX2_22187159_ChIP-Seq_PCA_Human	1.22563383
67	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.16749517
68	NANOG_19829295_ChIP-Seq_ESCs_Human	1.16293370
69	SOX2_19829295_ChIP-Seq_ESCs_Human	1.16293370
70	REST_21632747_ChIP-Seq_MESCs_Mouse	1.15943570
71	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.14402093
72	VDR_23849224_ChIP-Seq_CD4+_Human	1.14204927
73	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.13887195
74	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.12904577
75	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	1.12861502
76	AR_21572438_ChIP-Seq_LNCaP_Human	1.11157575
77	KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse	1.07209711
78	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.06047848
79	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.05958307
80	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.03858443
81	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.03604197
82	NCOR_22424771_ChIP-Seq_293T_Human	1.02984822
83	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.01730391
84	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.01535976
85	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.01468941
86	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.01144670
87	TAL1_26923725_Chip-Seq_HPCs_Mouse	1.00203772
88	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	0.99537532
89	FOXA1_27270436_Chip-Seq_PROSTATE_Human	0.99152604
90	FOXA1_25329375_ChIP-Seq_VCAP_Human	0.99152604
91	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.99136517
92	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	0.98806656
93	AUTS2_25519132_ChIP-Seq_293T-REX_Human	0.97799317
94	FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse	0.96534541
95	GATA3_21878914_ChIP-Seq_MCF-7_Human	0.96408081
96	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	0.93761245
97	CRX_20693478_ChIP-Seq_RETINA_Mouse	0.93447746
98	P53_22387025_ChIP-Seq_ESCs_Mouse	0.93244154
99	AR_20517297_ChIP-Seq_VCAP_Human	0.92523016
100	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	0.91733436

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0006292_abnormal_olfactory_placode	2.98862851
2	MP0002102_abnormal_ear_morphology	2.88585293
3	MP0003880_abnormal_central_pattern	2.64760453
4	MP0003787_abnormal_imprinting	2.63708762
5	MP0003136_yellow_coat_color	2.48679430
6	MP0008877_abnormal_DNA_methylation	2.38517139
7	MP0001529_abnormal_vocalization	2.35118763
8	MP0008789_abnormal_olfactory_epithelium	2.24118710
9	MP0001984_abnormal_olfaction	2.19381120
10	MP0002653_abnormal_ependyma_morphology	2.11002479
11	MP0005551_abnormal_eye_electrophysiolog	2.08744378
12	MP0002837_dystrophic_cardiac_calcinosis	2.03434566
13	MP0001968_abnormal_touch/_nociception	2.00658024
14	MP0006072_abnormal_retinal_apoptosis	1.94508904
15	MP0003121_genomic_imprinting	1.92895718
16	MP0005394_taste/olfaction_phenotype	1.91022366
17	MP0005499_abnormal_olfactory_system	1.91022366
18	MP0000778_abnormal_nervous_system	1.84036201
19	MP0000631_abnormal_neuroendocrine_gland	1.78204402
20	MP0006276_abnormal_autonomic_nervous	1.77740954
21	MP0005646_abnormal_pituitary_gland	1.74554876
22	MP0002736_abnormal_nociception_after	1.72443462
23	MP0004133_heterotaxia	1.71948055
24	MP0003122_maternal_imprinting	1.70505331
25	MP0005253_abnormal_eye_physiology	1.69948133
26	MP0002938_white_spotting	1.62253649
27	MP0009046_muscle_twitch	1.59809290
28	MP0001485_abnormal_pinna_reflex	1.59710295
29	MP0005645_abnormal_hypothalamus_physiol	1.56398707
30	MP0003890_abnormal_embryonic-extraembry	1.55423887
31	MP0000372_irregular_coat_pigmentation	1.52978825
32	MP0000427_abnormal_hair_cycle	1.51346691
33	MP0009745_abnormal_behavioral_response	1.48568709
34	MP0001486_abnormal_startle_reflex	1.48536818
35	MP0002638_abnormal_pupillary_reflex	1.45229325
36	MP0002751_abnormal_autonomic_nervous	1.44275995
37	MP0001293_anophthalmia	1.42890271
38	MP0004147_increased_porphyrin_level	1.41880379
39	MP0004142_abnormal_muscle_tone	1.41795770
40	MP0003195_calcinosis	1.38603960
41	MP0001986_abnormal_taste_sensitivity	1.38098394
42	MP0003011_delayed_dark_adaptation	1.35590894
43	MP0002557_abnormal_social/conspecific_i	1.32059673
44	MP0004145_abnormal_muscle_electrophysio	1.31191560
45	MP0008058_abnormal_DNA_repair	1.30016462
46	MP0008995_early_reproductive_senescence	1.29204996
47	MP0002272_abnormal_nervous_system	1.28044984
48	MP0005248_abnormal_Harderian_gland	1.26944749
49	MP0008872_abnormal_physiological_respon	1.25521429
50	MP0003937_abnormal_limbs/digits/tail_de	1.21777517
51	MP0004885_abnormal_endolymph	1.21562476
52	MP0002234_abnormal_pharynx_morphology	1.20316898
53	MP0003646_muscle_fatigue	1.18041833
54	MP0002876_abnormal_thyroid_physiology	1.17117144
55	MP0002572_abnormal_emotion/affect_behav	1.16733563
56	MP0000383_abnormal_hair_follicle	1.14493513
57	MP0000647_abnormal_sebaceous_gland	1.14261979
58	MP0005084_abnormal_gallbladder_morpholo	1.13218997
59	MP0001188_hyperpigmentation	1.13020786
60	MP0000049_abnormal_middle_ear	1.12405013
61	MP0004924_abnormal_behavior	1.11630386
62	MP0005386_behavior/neurological_phenoty	1.11630386
63	MP0005423_abnormal_somatic_nervous	1.11053527
64	MP0002735_abnormal_chemical_nociception	1.10514546
65	MP0002184_abnormal_innervation	1.10453764
66	MP0005195_abnormal_posterior_eye	1.09467414
67	MP0002752_abnormal_somatic_nervous	1.09335090
68	MP0002160_abnormal_reproductive_system	1.04968570
69	MP0003718_maternal_effect	1.03016200
70	MP0002928_abnormal_bile_duct	1.02972931
71	MP0002282_abnormal_trachea_morphology	1.02367786
72	MP0002067_abnormal_sensory_capabilities	1.00205343
73	MP0003567_abnormal_fetal_cardiomyocyte	0.99666474
74	MP0002233_abnormal_nose_morphology	0.99589987
75	MP0000026_abnormal_inner_ear	0.99418560
76	MP0005410_abnormal_fertilization	0.98860983
77	MP0005391_vision/eye_phenotype	0.98122925
78	MP0002063_abnormal_learning/memory/cond	0.97617769
79	MP0003938_abnormal_ear_development	0.95489986
80	MP0005389_reproductive_system_phenotype	0.94209540
81	MP0003635_abnormal_synaptic_transmissio	0.93908348
82	MP0003698_abnormal_male_reproductive	0.93588168
83	MP0001286_abnormal_eye_development	0.91896444
84	MP0005187_abnormal_penis_morphology	0.90090018
85	MP0002210_abnormal_sex_determination	0.89640908
86	MP0005367_renal/urinary_system_phenotyp	0.88015846
87	MP0000516_abnormal_urinary_system	0.88015846
88	MP0002064_seizures	0.87810788
89	MP0001970_abnormal_pain_threshold	0.85888268
90	MP0002734_abnormal_mechanical_nocicepti	0.85880718
91	MP0004215_abnormal_myocardial_fiber	0.84211879
92	MP0001929_abnormal_gametogenesis	0.84068334
93	MP0002163_abnormal_gland_morphology	0.82832829
94	MP0000653_abnormal_sex_gland	0.82538940
95	MP0002882_abnormal_neuron_morphology	0.81939887
96	MP0003755_abnormal_palate_morphology	0.81466408
97	MP0001324_abnormal_eye_pigmentation	0.81257293
98	MP0004043_abnormal_pH_regulation	0.80564470
99	MP0003119_abnormal_digestive_system	0.80526240
100	MP0000569_abnormal_digit_pigmentation	0.80001276

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Pancreatic fibrosis (HP:0100732)	4.21471516
2	Pancreatic cysts (HP:0001737)	4.13941457
3	True hermaphroditism (HP:0010459)	3.96936486
4	Abnormality of midbrain morphology (HP:0002418)	3.86602105
5	Molar tooth sign on MRI (HP:0002419)	3.86602105
6	Nephronophthisis (HP:0000090)	3.69703850
7	Medial flaring of the eyebrow (HP:0010747)	3.26956621
8	Abnormality of the renal medulla (HP:0100957)	3.15542181
9	Gait imbalance (HP:0002141)	2.90346024
10	Abnormality of the labia minora (HP:0012880)	2.88248316
11	Congenital stationary night blindness (HP:0007642)	2.87808637
12	Congenital primary aphakia (HP:0007707)	2.82229398
13	Type II lissencephaly (HP:0007260)	2.81850413
14	Abnormality of the renal cortex (HP:0011035)	2.79520726
15	Chronic hepatic failure (HP:0100626)	2.72983868
16	Nephrogenic diabetes insipidus (HP:0009806)	2.71840495
17	Cystic liver disease (HP:0006706)	2.66124938
18	Sclerocornea (HP:0000647)	2.58302807
19	Genital tract atresia (HP:0001827)	2.57151102
20	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.56784993
21	Vaginal atresia (HP:0000148)	2.48145123
22	Volvulus (HP:0002580)	2.41139191
23	Postaxial foot polydactyly (HP:0001830)	2.40112403
24	Renal cortical cysts (HP:0000803)	2.36302864
25	Abnormal biliary tract physiology (HP:0012439)	2.35115301
26	Bile duct proliferation (HP:0001408)	2.35115301
27	Anencephaly (HP:0002323)	2.32303117
28	Cerebellar dysplasia (HP:0007033)	2.29818739
29	Optic nerve hypoplasia (HP:0000609)	2.28804254
30	Pendular nystagmus (HP:0012043)	2.28529348
31	Intestinal atresia (HP:0011100)	2.28045791
32	Abolished electroretinogram (ERG) (HP:0000550)	2.24629085
33	Lissencephaly (HP:0001339)	2.24358279
34	Tubular atrophy (HP:0000092)	2.24170405
35	Postaxial hand polydactyly (HP:0001162)	2.17123316
36	Male pseudohermaphroditism (HP:0000037)	2.16220879
37	Poor coordination (HP:0002370)	2.15673281
38	Acute necrotizing encephalopathy (HP:0006965)	2.15271684
39	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	2.14643619
40	Aplasia/Hypoplasia of the uvula (HP:0010293)	2.12303133
41	Colon cancer (HP:0003003)	2.12131989
42	3-Methylglutaconic aciduria (HP:0003535)	2.11666568
43	Polydipsia (HP:0001959)	2.09632722
44	Abnormal drinking behavior (HP:0030082)	2.09632722
45	Congenital hepatic fibrosis (HP:0002612)	2.09630706
46	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.09546442
47	Dandy-Walker malformation (HP:0001305)	2.09047077
48	Acute encephalopathy (HP:0006846)	2.04737114
49	Preaxial hand polydactyly (HP:0001177)	2.00096928
50	Abnormality of the ileum (HP:0001549)	1.99977729
51	Supernumerary spleens (HP:0009799)	1.99888396
52	Oligodactyly (hands) (HP:0001180)	1.96936660
53	Meckel diverticulum (HP:0002245)	1.96912754
54	Occipital encephalocele (HP:0002085)	1.94577738
55	Attenuation of retinal blood vessels (HP:0007843)	1.93824631
56	Retinal dysplasia (HP:0007973)	1.93787797
57	Narrow forehead (HP:0000341)	1.93235278
58	Methylmalonic acidemia (HP:0002912)	1.93038239
59	Progressive macrocephaly (HP:0004481)	1.90355356
60	Septo-optic dysplasia (HP:0100842)	1.89148864
61	Pachygyria (HP:0001302)	1.88152224
62	Progressive cerebellar ataxia (HP:0002073)	1.87909244
63	Keratoconus (HP:0000563)	1.87803183
64	Increased corneal curvature (HP:0100692)	1.87803183
65	Rib fusion (HP:0000902)	1.87684718
66	Mitochondrial inheritance (HP:0001427)	1.87226776
67	Drooling (HP:0002307)	1.87051484
68	Hyperglycinemia (HP:0002154)	1.86387186
69	Aganglionic megacolon (HP:0002251)	1.82919242
70	Sloping forehead (HP:0000340)	1.82862892
71	Anophthalmia (HP:0000528)	1.82239908
72	Abnormal respiratory epithelium morphology (HP:0012253)	1.81660415
73	Abnormal respiratory motile cilium morphology (HP:0005938)	1.81660415
74	Abnormal mitochondria in muscle tissue (HP:0008316)	1.81075421
75	Absent/shortened dynein arms (HP:0200106)	1.80990531
76	Dynein arm defect of respiratory motile cilia (HP:0012255)	1.80990531
77	Increased CSF lactate (HP:0002490)	1.80791748
78	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	1.80634067
79	Abnormality of alanine metabolism (HP:0010916)	1.80634067
80	Hyperalaninemia (HP:0003348)	1.80634067
81	Gastrointestinal atresia (HP:0002589)	1.80441513
82	Specific learning disability (HP:0001328)	1.80192153
83	Inability to walk (HP:0002540)	1.79929625
84	Chorioretinal atrophy (HP:0000533)	1.79416180
85	Hyperventilation (HP:0002883)	1.79293875
86	Short tibia (HP:0005736)	1.78563549
87	Ectopic kidney (HP:0000086)	1.78461960
88	Patellar aplasia (HP:0006443)	1.78007619
89	Broad-based gait (HP:0002136)	1.77094407
90	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	1.75169967
91	Thyroid-stimulating hormone excess (HP:0002925)	1.73504515
92	Absent thumb (HP:0009777)	1.73254746
93	Progressive inability to walk (HP:0002505)	1.71828791
94	Abnormal rod and cone electroretinograms (HP:0008323)	1.70679231
95	Multicystic kidney dysplasia (HP:0000003)	1.70554472
96	Astigmatism (HP:0000483)	1.70209108
97	Renal hypoplasia (HP:0000089)	1.69418774
98	Decreased testicular size (HP:0008734)	1.68796552
99	Aplasia/Hypoplasia of the patella (HP:0006498)	1.68633277
100	Lipid accumulation in hepatocytes (HP:0006561)	1.68602883

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	3.70825638
2	BMPR1B	3.51482332
3	WNK3	3.44614713
4	MAP4K2	2.91444511
5	PINK1	2.57778803
6	CASK	2.50804220
7	TRIM28	2.45738186
8	NUAK1	2.30738433
9	TNIK	2.26265108
10	ADRBK2	2.20393112
11	ZAK	2.16406821
12	MAP3K4	2.03071140
13	MARK1	2.01952135
14	MAPK13	1.98136272
15	GRK1	1.82394384
16	BCR	1.76357108
17	MKNK2	1.75897001
18	EPHA4	1.68446993
19	DYRK2	1.53555685
20	WNK4	1.48437190
21	ACVR1B	1.47198127
22	ERBB3	1.46690270
23	TAOK3	1.35414754
24	STK39	1.26819718
25	MAP2K7	1.25658117
26	TLK1	1.24238971
27	CSNK1G2	1.21994868
28	TGFBR1	1.20186189
29	CSNK1G3	1.18640075
30	PLK2	1.17802291
31	WEE1	1.17787154
32	OXSR1	1.17786401
33	CSNK1A1L	1.17044900
34	MKNK1	1.15507389
35	EIF2AK3	1.15058852
36	PAK3	1.14008553
37	BRSK2	1.13924893
38	CSNK1G1	1.11133698
39	BCKDK	1.09557152
40	INSRR	1.09389260
41	VRK1	1.07319886
42	DYRK3	1.06322701
43	PLK3	0.98532739
44	FGFR2	0.95265933
45	TIE1	0.95194470
46	PLK4	0.95022152
47	SRPK1	0.93889088
48	PRKCE	0.87671239
49	NTRK2	0.84607090
50	PRKCG	0.82876710
51	PNCK	0.80884320
52	NTRK3	0.76643918
53	PIK3CA	0.72995904
54	CDC7	0.71150326
55	ADRBK1	0.70203720
56	MUSK	0.69351464
57	MINK1	0.69123708
58	PLK1	0.68919580
59	CCNB1	0.68235617
60	TAF1	0.67186415
61	STK16	0.64912873
62	TXK	0.62775265
63	DAPK2	0.62569743
64	EPHA3	0.62461002
65	CDK8	0.60791121
66	OBSCN	0.60382353
67	EPHB2	0.59842150
68	RPS6KA4	0.59721470
69	PHKG2	0.57848415
70	PHKG1	0.57848415
71	BUB1	0.55433319
72	ATR	0.54080892
73	VRK2	0.53538822
74	DYRK1B	0.52032372
75	STK38L	0.48960180
76	CAMK2A	0.48955606
77	ATM	0.48728438
78	MAPK15	0.48429518
79	CHEK2	0.47893716
80	NLK	0.47727540
81	NEK2	0.47110319
82	PRKD3	0.45791979
83	DYRK1A	0.44842956
84	PKN1	0.43232748
85	STK3	0.43030627
86	EIF2AK2	0.41969842
87	ERBB2	0.41491976
88	MARK3	0.41193049
89	FER	0.40561553
90	STK11	0.39937282
91	CSNK1A1	0.39680251
92	RPS6KA5	0.38326986
93	TTK	0.38112636
94	CSNK1D	0.37807055
95	PRKACA	0.37043850
96	MAPKAPK5	0.33435945
97	PRKCQ	0.32260386
98	AKT3	0.31695973
99	PRKCZ	0.30752216
100	PRKAA1	0.30405696

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.82304138
2	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.60698245
3	Phototransduction_Homo sapiens_hsa04744	2.57795809
4	Protein export_Homo sapiens_hsa03060	2.52746458
5	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.39981230
6	Fanconi anemia pathway_Homo sapiens_hsa03460	2.33790139
7	Oxidative phosphorylation_Homo sapiens_hsa00190	2.22952701
8	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	2.21356463
9	Basal transcription factors_Homo sapiens_hsa03022	2.20468033
10	Homologous recombination_Homo sapiens_hsa03440	2.16163678
11	Nicotine addiction_Homo sapiens_hsa05033	2.11703724
12	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	2.09175505
13	Nitrogen metabolism_Homo sapiens_hsa00910	2.08371887
14	Butanoate metabolism_Homo sapiens_hsa00650	2.04545562
15	Propanoate metabolism_Homo sapiens_hsa00640	2.03925059
16	RNA polymerase_Homo sapiens_hsa03020	1.94913437
17	Parkinsons disease_Homo sapiens_hsa05012	1.86329071
18	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.85500449
19	Linoleic acid metabolism_Homo sapiens_hsa00591	1.77624420
20	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.75317537
21	Selenocompound metabolism_Homo sapiens_hsa00450	1.74542468
22	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.67872390
23	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.65832923
24	RNA degradation_Homo sapiens_hsa03018	1.65640002
25	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.61162117
26	Steroid biosynthesis_Homo sapiens_hsa00100	1.57514257
27	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.53472028
28	Huntingtons disease_Homo sapiens_hsa05016	1.39420030
29	Olfactory transduction_Homo sapiens_hsa04740	1.36346783
30	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.36304947
31	Ether lipid metabolism_Homo sapiens_hsa00565	1.24481758
32	Non-homologous end-joining_Homo sapiens_hsa03450	1.22192761
33	Taste transduction_Homo sapiens_hsa04742	1.22011580
34	Peroxisome_Homo sapiens_hsa04146	1.19776696
35	Alzheimers disease_Homo sapiens_hsa05010	1.11632447
36	Proteasome_Homo sapiens_hsa03050	1.10290984
37	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.08955321
38	One carbon pool by folate_Homo sapiens_hsa00670	1.07106617
39	Hedgehog signaling pathway_Homo sapiens_hsa04340	1.06346067
40	Tryptophan metabolism_Homo sapiens_hsa00380	1.05680186
41	Cardiac muscle contraction_Homo sapiens_hsa04260	1.05356718
42	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	1.04093645
43	Fatty acid elongation_Homo sapiens_hsa00062	1.03601542
44	Chemical carcinogenesis_Homo sapiens_hsa05204	1.03500858
45	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.00087062
46	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.99182486
47	Morphine addiction_Homo sapiens_hsa05032	0.98099396
48	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.97185623
49	Basal cell carcinoma_Homo sapiens_hsa05217	0.92544044
50	GABAergic synapse_Homo sapiens_hsa04727	0.90797853
51	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.88070029
52	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.87632215
53	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.83791986
54	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.83401509
55	Fatty acid metabolism_Homo sapiens_hsa01212	0.83157121
56	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.82661027
57	Retinol metabolism_Homo sapiens_hsa00830	0.81485359
58	ABC transporters_Homo sapiens_hsa02010	0.79060530
59	Purine metabolism_Homo sapiens_hsa00230	0.78420406
60	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.77884941
61	Caffeine metabolism_Homo sapiens_hsa00232	0.77151543
62	Mismatch repair_Homo sapiens_hsa03430	0.76861316
63	RNA transport_Homo sapiens_hsa03013	0.75673005
64	Circadian rhythm_Homo sapiens_hsa04710	0.75607559
65	Circadian entrainment_Homo sapiens_hsa04713	0.75348202
66	Insulin secretion_Homo sapiens_hsa04911	0.74396811
67	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.73223111
68	Glutamatergic synapse_Homo sapiens_hsa04724	0.71858948
69	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.71816263
70	Regulation of autophagy_Homo sapiens_hsa04140	0.70923280
71	Metabolic pathways_Homo sapiens_hsa01100	0.70014953
72	Fat digestion and absorption_Homo sapiens_hsa04975	0.69978725
73	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.69528287
74	Serotonergic synapse_Homo sapiens_hsa04726	0.69285901
75	Pyrimidine metabolism_Homo sapiens_hsa00240	0.67672385
76	beta-Alanine metabolism_Homo sapiens_hsa00410	0.66000829
77	Dopaminergic synapse_Homo sapiens_hsa04728	0.61042364
78	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.60464154
79	Axon guidance_Homo sapiens_hsa04360	0.60317159
80	Hippo signaling pathway_Homo sapiens_hsa04390	0.59593529
81	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.59378293
82	Nucleotide excision repair_Homo sapiens_hsa03420	0.58483694
83	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.57696669
84	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.55580273
85	Collecting duct acid secretion_Homo sapiens_hsa04966	0.54919896
86	Fatty acid degradation_Homo sapiens_hsa00071	0.54249202
87	p53 signaling pathway_Homo sapiens_hsa04115	0.53654393
88	Cocaine addiction_Homo sapiens_hsa05030	0.52710433
89	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.50273689
90	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.48616744
91	Ribosome_Homo sapiens_hsa03010	0.46787567
92	Oocyte meiosis_Homo sapiens_hsa04114	0.45437130
93	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.45162874
94	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.44501332
95	Base excision repair_Homo sapiens_hsa03410	0.44303048
96	Calcium signaling pathway_Homo sapiens_hsa04020	0.43564935
97	Sulfur relay system_Homo sapiens_hsa04122	0.42069133
98	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.40026611
99	Spliceosome_Homo sapiens_hsa03040	0.39750335
100	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.39636576

UBE2Q2P2

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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