ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	male meiosis (GO:0007140)	6.16026714
2	synapsis (GO:0007129)	5.47136238
3	sperm motility (GO:0030317)	5.06849958
4	multicellular organism reproduction (GO:0032504)	4.99865184
5	indole-containing compound catabolic process (GO:0042436)	4.97801416
6	indolalkylamine catabolic process (GO:0046218)	4.97801416
7	tryptophan catabolic process (GO:0006569)	4.97801416
8	piRNA metabolic process (GO:0034587)	4.91411204
9	epithelial cilium movement (GO:0003351)	4.71549670
10	behavioral response to nicotine (GO:0035095)	4.70655426
11	acrosome reaction (GO:0007340)	4.66274517
12	cilium or flagellum-dependent cell motility (GO:0001539)	4.58550604
13	spermatid development (GO:0007286)	4.50235319
14	indolalkylamine metabolic process (GO:0006586)	4.43678994
15	DNA double-strand break processing (GO:0000729)	4.23511875
16	tryptophan metabolic process (GO:0006568)	4.12806015
17	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	4.12520214
18	DNA methylation involved in gamete generation (GO:0043046)	4.10367804
19	regulation of phosphoprotein phosphatase activity (GO:0043666)	4.05315116
20	positive regulation of catecholamine secretion (GO:0033605)	3.99521625
21	cilium movement (GO:0003341)	3.90940414
22	axonemal dynein complex assembly (GO:0070286)	3.81942588
23	regulation of cilium movement (GO:0003352)	3.77255609
24	sperm-egg recognition (GO:0035036)	3.61045712
25	motile cilium assembly (GO:0044458)	3.58667022
26	organic cation transport (GO:0015695)	3.51687798
27	cellular ketone body metabolic process (GO:0046950)	3.50312861
28	regulation of meiosis I (GO:0060631)	3.45003310
29	response to pheromone (GO:0019236)	3.44218533
30	kynurenine metabolic process (GO:0070189)	3.42691147
31	fucose catabolic process (GO:0019317)	3.40204752
32	L-fucose metabolic process (GO:0042354)	3.40204752
33	L-fucose catabolic process (GO:0042355)	3.40204752
34	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.40131013
35	amine catabolic process (GO:0009310)	3.35939594
36	cellular biogenic amine catabolic process (GO:0042402)	3.35939594
37	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	3.32596837
38	indole-containing compound metabolic process (GO:0042430)	3.26353938
39	cilium morphogenesis (GO:0060271)	3.26156078
40	positive regulation of synaptic transmission, dopaminergic (GO:0032226)	3.24533535
41	neural tube formation (GO:0001841)	3.23735615
42	protein polyglutamylation (GO:0018095)	3.19054976
43	male meiosis I (GO:0007141)	3.19046732
44	reproduction (GO:0000003)	3.18096333
45	sulfation (GO:0051923)	3.18041523
46	protein localization to cilium (GO:0061512)	3.17512071
47	ketone body metabolic process (GO:1902224)	3.17264855
48	photoreceptor cell maintenance (GO:0045494)	3.15463070
49	binding of sperm to zona pellucida (GO:0007339)	3.12850222
50	cell-cell recognition (GO:0009988)	3.11074805
51	chromosome organization involved in meiosis (GO:0070192)	3.10817420
52	cilium organization (GO:0044782)	3.07179003
53	detection of light stimulus involved in visual perception (GO:0050908)	3.06970734
54	detection of light stimulus involved in sensory perception (GO:0050962)	3.06970734
55	water-soluble vitamin biosynthetic process (GO:0042364)	3.05934025
56	axoneme assembly (GO:0035082)	3.02115157
57	cilium assembly (GO:0042384)	3.00228124
58	aromatic amino acid family catabolic process (GO:0009074)	2.98050233
59	meiotic nuclear division (GO:0007126)	2.97370597
60	positive regulation of glycolytic process (GO:0045821)	2.96839043
61	DNA deamination (GO:0045006)	2.92789238
62	acrosome assembly (GO:0001675)	2.92608627
63	single fertilization (GO:0007338)	2.91957582
64	amino acid salvage (GO:0043102)	2.86995147
65	L-methionine salvage (GO:0071267)	2.86995147
66	L-methionine biosynthetic process (GO:0071265)	2.86995147
67	coenzyme catabolic process (GO:0009109)	2.86408899
68	potassium ion export (GO:0071435)	2.80958083
69	aspartate family amino acid catabolic process (GO:0009068)	2.74180433
70	intraciliary transport (GO:0042073)	2.74056321
71	detection of chemical stimulus involved in sensory perception of smell (GO:0050911)	2.73253788
72	resolution of meiotic recombination intermediates (GO:0000712)	2.73131886
73	protein K11-linked deubiquitination (GO:0035871)	2.71630853
74	platelet dense granule organization (GO:0060155)	2.71246125
75	mannosylation (GO:0097502)	2.70354753
76	negative regulation of telomere maintenance (GO:0032205)	2.68867472
77	reflex (GO:0060004)	2.66405997
78	negative regulation of synaptic transmission, GABAergic (GO:0032229)	2.66138958
79	germ cell development (GO:0007281)	2.64408272
80	establishment of protein localization to Golgi (GO:0072600)	2.64267295
81	negative regulation of reactive oxygen species metabolic process (GO:2000378)	2.63962214
82	regulation of microtubule-based movement (GO:0060632)	2.61305722
83	reciprocal meiotic recombination (GO:0007131)	2.57360439
84	reciprocal DNA recombination (GO:0035825)	2.57360439
85	histone exchange (GO:0043486)	2.57316436
86	regulation of dopamine secretion (GO:0014059)	2.57188208
87	relaxation of smooth muscle (GO:0044557)	2.56352364
88	benzene-containing compound metabolic process (GO:0042537)	2.55832006
89	cellular biogenic amine biosynthetic process (GO:0042401)	2.54555860
90	activation of protein kinase B activity (GO:0032148)	2.54468521
91	calcium ion-dependent exocytosis (GO:0017156)	2.54260109
92	double-strand break repair via homologous recombination (GO:0000724)	2.54157455
93	recombinational repair (GO:0000725)	2.53807762
94	positive regulation of fatty acid transport (GO:2000193)	2.52640625
95	regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	2.50305667
96	amine biosynthetic process (GO:0009309)	2.50288341
97	negative regulation of transcription regulatory region DNA binding (GO:2000678)	2.50146004
98	dicarboxylic acid catabolic process (GO:0043649)	2.49523047
99	positive regulation of meiotic cell cycle (GO:0051446)	2.48788335
100	neuronal action potential (GO:0019228)	2.48529875

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	IGF1R_20145208_ChIP-Seq_DFB_Human	3.85970406
2	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	3.83099881
3	ZNF274_21170338_ChIP-Seq_K562_Hela	3.55631916
4	VDR_22108803_ChIP-Seq_LS180_Human	3.40555540
5	GBX2_23144817_ChIP-Seq_PC3_Human	3.18519906
6	EZH2_22144423_ChIP-Seq_EOC_Human	2.68925232
7	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.59921302
8	FUS_26573619_Chip-Seq_HEK293_Human	2.51378511
9	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.50705830
10	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.32059161
11	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.30758369
12	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.29406808
13	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.23608098
14	ER_23166858_ChIP-Seq_MCF-7_Human	2.23185955
15	P300_19829295_ChIP-Seq_ESCs_Human	2.16984164
16	EWS_26573619_Chip-Seq_HEK293_Human	2.03434221
17	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.86798939
18	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.85689307
19	CBP_20019798_ChIP-Seq_JUKART_Human	1.84435135
20	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.84435135
21	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.84333149
22	BCAT_22108803_ChIP-Seq_LS180_Human	1.71304508
23	TAF15_26573619_Chip-Seq_HEK293_Human	1.71014020
24	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.66340539
25	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.66150234
26	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.66150234
27	STAT3_23295773_ChIP-Seq_U87_Human	1.65876910
28	SMAD4_21799915_ChIP-Seq_A2780_Human	1.65665358
29	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.63639411
30	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.63577215
31	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.62593648
32	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.62556714
33	IRF1_19129219_ChIP-ChIP_H3396_Human	1.61049028
34	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.60567123
35	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.59086725
36	AR_25329375_ChIP-Seq_VCAP_Human	1.57376765
37	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.55927570
38	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.51704386
39	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.50229419
40	SOX2_19829295_ChIP-Seq_ESCs_Human	1.47434137
41	NANOG_19829295_ChIP-Seq_ESCs_Human	1.47434137
42	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.45691126
43	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.43128840
44	RUNX2_22187159_ChIP-Seq_PCA_Human	1.41645483
45	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.40230866
46	TCF4_23295773_ChIP-Seq_U87_Human	1.38706122
47	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.38288632
48	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.38071832
49	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.37157022
50	TP53_22573176_ChIP-Seq_HFKS_Human	1.36464416
51	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.36241058
52	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.35164326
53	AR_21572438_ChIP-Seq_LNCaP_Human	1.32280491
54	TCF4_22108803_ChIP-Seq_LS180_Human	1.29292173
55	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.28095793
56	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.27542924
57	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.25469208
58	MYC_18940864_ChIP-ChIP_HL60_Human	1.24946322
59	BP1_19119308_ChIP-ChIP_Hs578T_Human	1.22363937
60	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.22175214
61	NCOR_22424771_ChIP-Seq_293T_Human	1.21713444
62	HOXB7_26014856_ChIP-Seq_BT474_Human	1.20624182
63	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.20313615
64	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.20052480
65	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.19636334
66	VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human	1.18209257
67	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.17937472
68	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.16756204
69	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.16101049
70	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.14190897
71	NANOG_20526341_ChIP-Seq_ESCs_Human	1.13692720
72	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	1.13529547
73	MYC_19829295_ChIP-Seq_ESCs_Human	1.13032084
74	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.12513408
75	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.12444455
76	CDX2_22108803_ChIP-Seq_LS180_Human	1.12123156
77	AR_20517297_ChIP-Seq_VCAP_Human	1.10947493
78	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.10707658
79	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.10566071
80	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.10566071
81	ARNT_22903824_ChIP-Seq_MCF-7_Human	1.09997631
82	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.09915814
83	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.07557218
84	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	1.07274586
85	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.05579674
86	TBL1_22424771_ChIP-Seq_293T_Human	1.03276227
87	ERA_21632823_ChIP-Seq_H3396_Human	1.03258714
88	ESR1_20079471_ChIP-ChIP_T-47D_Human	1.03198193
89	OCT4_20526341_ChIP-Seq_ESCs_Human	1.02192077
90	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.02126333
91	AHR_22903824_ChIP-Seq_MCF-7_Human	1.01902979
92	FOXH1_21741376_ChIP-Seq_EPCs_Human	1.01565747
93	REST_21632747_ChIP-Seq_MESCs_Mouse	0.99877503
94	NFE2_27457419_Chip-Seq_LIVER_Mouse	0.98674655
95	ETV2_25802403_ChIP-Seq_MESCs_Mouse	0.98456322
96	SUZ12_27294783_Chip-Seq_NPCs_Mouse	0.97281192
97	NANOG_18555785_Chip-Seq_ESCs_Mouse	0.97176535
98	RNF2_27304074_Chip-Seq_NSC_Mouse	0.96990152
99	OCT1_27270436_Chip-Seq_PROSTATE_Human	0.95375901
100	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	0.94779005

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0005410_abnormal_fertilization	4.15597199
2	MP0008877_abnormal_DNA_methylation	2.88126164
3	MP0002102_abnormal_ear_morphology	2.74856392
4	MP0003136_yellow_coat_color	2.56655855
5	MP0002160_abnormal_reproductive_system	2.53516072
6	MP0002837_dystrophic_cardiac_calcinosis	2.41936070
7	MP0005551_abnormal_eye_electrophysiolog	2.34546542
8	MP0006072_abnormal_retinal_apoptosis	2.32938963
9	MP0001984_abnormal_olfaction	2.28688993
10	MP0003195_calcinosis	2.19416014
11	MP0001968_abnormal_touch/_nociception	2.16150227
12	MP0003698_abnormal_male_reproductive	2.08519507
13	MP0005646_abnormal_pituitary_gland	2.02287115
14	MP0010386_abnormal_urinary_bladder	1.95377611
15	MP0001501_abnormal_sleep_pattern	1.91987820
16	MP0001929_abnormal_gametogenesis	1.91831131
17	MP0005253_abnormal_eye_physiology	1.89278404
18	MP0009046_muscle_twitch	1.86841597
19	MP0003646_muscle_fatigue	1.83843164
20	MP0003315_abnormal_perineum_morphology	1.83271250
21	MP0000569_abnormal_digit_pigmentation	1.81873060
22	MP0005389_reproductive_system_phenotype	1.78192529
23	MP0002736_abnormal_nociception_after	1.75109005
24	MP0002638_abnormal_pupillary_reflex	1.70896706
25	MP0002272_abnormal_nervous_system	1.63046120
26	MP0009745_abnormal_behavioral_response	1.58380467
27	MP0008875_abnormal_xenobiotic_pharmacok	1.57858325
28	MP0001529_abnormal_vocalization	1.54799874
29	MP0008872_abnormal_physiological_respon	1.53317238
30	MP0001486_abnormal_startle_reflex	1.52894939
31	MP0008058_abnormal_DNA_repair	1.52339927
32	MP0003718_maternal_effect	1.50589715
33	MP0001485_abnormal_pinna_reflex	1.49637478
34	MP0003787_abnormal_imprinting	1.49114201
35	MP0004885_abnormal_endolymph	1.46690906
36	MP0000427_abnormal_hair_cycle	1.44794352
37	MP0005360_urolithiasis	1.43205025
38	MP0006276_abnormal_autonomic_nervous	1.42358721
39	MP0008004_abnormal_stomach_pH	1.40893676
40	MP0000631_abnormal_neuroendocrine_gland	1.40521326
41	MP0002210_abnormal_sex_determination	1.40360419
42	MP0005174_abnormal_tail_pigmentation	1.39378211
43	MP0008995_early_reproductive_senescence	1.38101172
44	MP0003880_abnormal_central_pattern	1.37589543
45	MP0001905_abnormal_dopamine_level	1.37340127
46	MP0004142_abnormal_muscle_tone	1.36014286
47	MP0005377_hearing/vestibular/ear_phenot	1.32544707
48	MP0003878_abnormal_ear_physiology	1.32544707
49	MP0005647_abnormal_sex_gland	1.31775942
50	MP0005187_abnormal_penis_morphology	1.31682626
51	MP0001986_abnormal_taste_sensitivity	1.30381165
52	MP0002653_abnormal_ependyma_morphology	1.29527451
53	MP0001764_abnormal_homeostasis	1.28919605
54	MP0000372_irregular_coat_pigmentation	1.27306266
55	MP0000538_abnormal_urinary_bladder	1.24673281
56	MP0001145_abnormal_male_reproductive	1.21091178
57	MP0006292_abnormal_olfactory_placode	1.20816771
58	MP0000653_abnormal_sex_gland	1.20428485
59	MP0002138_abnormal_hepatobiliary_system	1.19970194
60	MP0001919_abnormal_reproductive_system	1.19952319
61	MP0005645_abnormal_hypothalamus_physiol	1.16561084
62	MP0005084_abnormal_gallbladder_morpholo	1.13032817
63	MP0004147_increased_porphyrin_level	1.09609544
64	MP0004043_abnormal_pH_regulation	1.07571776
65	MP0002163_abnormal_gland_morphology	1.06967751
66	MP0002064_seizures	1.06482464
67	MP0002572_abnormal_emotion/affect_behav	1.06233508
68	MP0002928_abnormal_bile_duct	1.04732099
69	MP0001970_abnormal_pain_threshold	1.03908565
70	MP0005379_endocrine/exocrine_gland_phen	1.03048642
71	MP0004215_abnormal_myocardial_fiber	1.02427565
72	MP0002557_abnormal_social/conspecific_i	1.01864333
73	MP0002876_abnormal_thyroid_physiology	1.00148938
74	MP0005167_abnormal_blood-brain_barrier	0.99488402
75	MP0003635_abnormal_synaptic_transmissio	0.94477084
76	MP0003045_fibrosis	0.94471335
77	MP0001188_hyperpigmentation	0.93694284
78	MP0005386_behavior/neurological_phenoty	0.93084637
79	MP0004924_abnormal_behavior	0.93084637
80	MP0002938_white_spotting	0.92880311
81	MP0002161_abnormal_fertility/fecundity	0.92605362
82	MP0001664_abnormal_digestion	0.92592414
83	MP0004145_abnormal_muscle_electrophysio	0.92491779
84	MP0002067_abnormal_sensory_capabilities	0.90772718
85	MP0005394_taste/olfaction_phenotype	0.90259262
86	MP0005499_abnormal_olfactory_system	0.90259262
87	MP0006036_abnormal_mitochondrial_physio	0.89703077
88	MP0008775_abnormal_heart_ventricle	0.89495955
89	MP0000230_abnormal_systemic_arterial	0.87490971
90	MP0002752_abnormal_somatic_nervous	0.85636940
91	MP0005195_abnormal_posterior_eye	0.84908477
92	MP0002735_abnormal_chemical_nociception	0.84449557
93	MP0002733_abnormal_thermal_nociception	0.84333001
94	MP0004085_abnormal_heartbeat	0.84213157
95	MP0004742_abnormal_vestibular_system	0.82385446
96	MP0004133_heterotaxia	0.81803164
97	MP0008789_abnormal_olfactory_epithelium	0.81679264
98	MP0000026_abnormal_inner_ear	0.81473432
99	MP0000015_abnormal_ear_pigmentation	0.80924131
100	MP0005171_absent_coat_pigmentation	0.80880762

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Pancreatic cysts (HP:0001737)	4.66392103
2	Pancreatic fibrosis (HP:0100732)	4.22484091
3	True hermaphroditism (HP:0010459)	4.19731671
4	Type II lissencephaly (HP:0007260)	4.16656660
5	Dynein arm defect of respiratory motile cilia (HP:0012255)	3.69513025
6	Absent/shortened dynein arms (HP:0200106)	3.69513025
7	Cerebellar dysplasia (HP:0007033)	3.51668781
8	Molar tooth sign on MRI (HP:0002419)	3.45891242
9	Abnormality of midbrain morphology (HP:0002418)	3.45891242
10	Nephronophthisis (HP:0000090)	3.42159800
11	Congenital stationary night blindness (HP:0007642)	3.32825699
12	Abnormal ciliary motility (HP:0012262)	3.23265786
13	Male pseudohermaphroditism (HP:0000037)	3.22691814
14	Hypoplasia of the uterus (HP:0000013)	3.11104444
15	Attenuation of retinal blood vessels (HP:0007843)	3.10355425
16	Cystic liver disease (HP:0006706)	3.05161811
17	Abnormality of the renal medulla (HP:0100957)	3.00182247
18	Abnormality of the renal cortex (HP:0011035)	3.00169654
19	Abnormal respiratory motile cilium physiology (HP:0012261)	2.98007354
20	Abnormal respiratory epithelium morphology (HP:0012253)	2.97474135
21	Abnormal respiratory motile cilium morphology (HP:0005938)	2.97474135
22	Chronic hepatic failure (HP:0100626)	2.97178708
23	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	2.91484874
24	Aplasia/hypoplasia of the uterus (HP:0008684)	2.85873157
25	Medial flaring of the eyebrow (HP:0010747)	2.84683070
26	Inability to walk (HP:0002540)	2.84513496
27	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.77217644
28	Abnormal rod and cone electroretinograms (HP:0008323)	2.70962237
29	Occipital encephalocele (HP:0002085)	2.68981224
30	Retinal dysplasia (HP:0007973)	2.59679982
31	Hyperventilation (HP:0002883)	2.59186206
32	Abolished electroretinogram (ERG) (HP:0000550)	2.52475650
33	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.46243451
34	Congenital sensorineural hearing impairment (HP:0008527)	2.45420053
35	Sclerocornea (HP:0000647)	2.43488083
36	Abnormal biliary tract physiology (HP:0012439)	2.43440882
37	Bile duct proliferation (HP:0001408)	2.43440882
38	Gaze-evoked nystagmus (HP:0000640)	2.43371063
39	Anencephaly (HP:0002323)	2.43071672
40	Renal cortical cysts (HP:0000803)	2.40754027
41	Lissencephaly (HP:0001339)	2.40006199
42	Polydipsia (HP:0001959)	2.37406613
43	Abnormal drinking behavior (HP:0030082)	2.37406613
44	Tubular atrophy (HP:0000092)	2.37315587
45	Hypothermia (HP:0002045)	2.34692418
46	Protruding tongue (HP:0010808)	2.34679038
47	Pendular nystagmus (HP:0012043)	2.32839204
48	Gait imbalance (HP:0002141)	2.25274389
49	Congenital primary aphakia (HP:0007707)	2.24256706
50	Absent speech (HP:0001344)	2.23920390
51	Abnormality of macular pigmentation (HP:0008002)	2.21261800
52	Bony spicule pigmentary retinopathy (HP:0007737)	2.19606470
53	Progressive cerebellar ataxia (HP:0002073)	2.18011962
54	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.17147038
55	Congenital hepatic fibrosis (HP:0002612)	2.12058578
56	Furrowed tongue (HP:0000221)	2.09419470
57	Decreased central vision (HP:0007663)	2.06707923
58	Nephrogenic diabetes insipidus (HP:0009806)	2.06027869
59	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	2.04335869
60	Abnormal protein N-linked glycosylation (HP:0012347)	2.04335869
61	Abnormal protein glycosylation (HP:0012346)	2.04335869
62	Abnormal glycosylation (HP:0012345)	2.04335869
63	Progressive inability to walk (HP:0002505)	2.03471379
64	Rhinitis (HP:0012384)	2.02751744
65	Postaxial foot polydactyly (HP:0001830)	2.02022200
66	Acute necrotizing encephalopathy (HP:0006965)	2.00094000
67	Pachygyria (HP:0001302)	1.99489550
68	Febrile seizures (HP:0002373)	1.97194567
69	Optic nerve hypoplasia (HP:0000609)	1.95766129
70	Increased CSF lactate (HP:0002490)	1.93189312
71	Abnormal sex determination (HP:0012244)	1.93145361
72	Sex reversal (HP:0012245)	1.93145361
73	Abnormality of alanine metabolism (HP:0010916)	1.92706511
74	Hyperalaninemia (HP:0003348)	1.92706511
75	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	1.92706511
76	Abnormality of the labia minora (HP:0012880)	1.91994330
77	Absent thumb (HP:0009777)	1.91974244
78	Progressive macrocephaly (HP:0004481)	1.91909209
79	Ketosis (HP:0001946)	1.91867653
80	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	1.91569505
81	Increased corneal curvature (HP:0100692)	1.91444111
82	Keratoconus (HP:0000563)	1.91444111
83	Atonic seizures (HP:0010819)	1.91424396
84	Genetic anticipation (HP:0003743)	1.87849972
85	Large for gestational age (HP:0001520)	1.87798114
86	Polyuria (HP:0000103)	1.87496509
87	Aplasia/Hypoplasia of the uvula (HP:0010293)	1.85558558
88	Acute encephalopathy (HP:0006846)	1.82655015
89	Mitochondrial inheritance (HP:0001427)	1.82279945
90	Genital tract atresia (HP:0001827)	1.78798153
91	Abnormality of the ileum (HP:0001549)	1.75623126
92	Poor coordination (HP:0002370)	1.75056683
93	Lipid accumulation in hepatocytes (HP:0006561)	1.74903786
94	Postaxial hand polydactyly (HP:0001162)	1.74754055
95	Methylmalonic acidemia (HP:0002912)	1.74362212
96	Severe muscular hypotonia (HP:0006829)	1.73723155
97	Fair hair (HP:0002286)	1.73164028
98	Hemiparesis (HP:0001269)	1.72816302
99	Dandy-Walker malformation (HP:0001305)	1.72689575
100	Clumsiness (HP:0002312)	1.71687413

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	PINK1	6.76513309
2	FRK	5.86288985
3	ZAK	3.62699015
4	TLK1	2.87742904
5	MAP4K2	2.67751795
6	MARK3	2.63536791
7	BMPR1B	2.63166519
8	ADRBK2	2.57754401
9	WNK3	2.02486916
10	GRK1	1.88753067
11	STK38L	1.80329992
12	TAOK3	1.70032815
13	ACVR1B	1.63310975
14	INSRR	1.61766032
15	NUAK1	1.60262102
16	TIE1	1.58783121
17	MAPK13	1.52170066
18	WNK4	1.50032774
19	RPS6KA5	1.44378920
20	MAP3K4	1.41721751
21	MAP2K7	1.39911931
22	TRIM28	1.31545293
23	NEK2	1.28390765
24	CASK	1.25816377
25	LATS1	1.23005036
26	OXSR1	1.16610385
27	STK39	1.16379357
28	STK3	1.09707820
29	PLK4	1.03154022
30	MST4	1.03089925
31	VRK1	1.02032861
32	MYLK	1.01563519
33	CSNK1A1L	0.96055105
34	PAK3	0.93092579
35	CSNK1G3	0.90397688
36	CSNK1G1	0.88094310
37	CSNK1G2	0.87125581
38	NTRK3	0.86629340
39	PLK2	0.85389634
40	DYRK2	0.83740477
41	ADRBK1	0.83446843
42	TNIK	0.83077024
43	TGFBR1	0.80437381
44	TXK	0.77915446
45	MAPKAPK3	0.76791738
46	EIF2AK3	0.73164447
47	PRKCQ	0.72738433
48	PRKCE	0.72475408
49	STK38	0.72279011
50	PTK2B	0.71212722
51	BCR	0.70136654
52	FGFR2	0.68000234
53	BRSK2	0.66096506
54	CDK3	0.64924404
55	MKNK2	0.64723253
56	BCKDK	0.63249325
57	DAPK2	0.60836462
58	OBSCN	0.58990530
59	MUSK	0.58374907
60	PRKCG	0.58255020
61	MARK1	0.58236768
62	CAMKK2	0.57746963
63	MAPK15	0.54456621
64	PIK3CG	0.52458838
65	DYRK3	0.51817156
66	STK16	0.51653844
67	PKN1	0.51075162
68	MAPKAPK5	0.50556165
69	GRK7	0.49752925
70	PLK3	0.49022476
71	ERBB3	0.48891517
72	WEE1	0.48851457
73	PNCK	0.46592463
74	PHKG2	0.46290965
75	PHKG1	0.46290965
76	NEK1	0.42093725
77	TEC	0.40205403
78	PIK3CA	0.39595116
79	PLK1	0.39167629
80	AKT3	0.38349460
81	CAMK1	0.38265641
82	CSNK1A1	0.37678014
83	NLK	0.37498160
84	ATM	0.37146119
85	FER	0.36284440
86	PRKG1	0.35206642
87	CCNB1	0.33631267
88	GRK5	0.33593706
89	CAMK2A	0.32367516
90	IKBKB	0.28835254
91	PDK2	0.28453723
92	PRKACA	0.28426573
93	TNK2	0.27673819
94	EPHA4	0.26064278
95	MKNK1	0.25726550
96	CDK8	0.24508333
97	CSNK1D	0.22577235
98	SGK494	0.22380051
99	SGK223	0.22380051
100	EGFR	0.21473812

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Nitrogen metabolism_Homo sapiens_hsa00910	3.43948396
2	Butanoate metabolism_Homo sapiens_hsa00650	3.04266666
3	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.74126210
4	Phototransduction_Homo sapiens_hsa04744	2.53762942
5	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	2.37209655
6	Propanoate metabolism_Homo sapiens_hsa00640	2.33080852
7	Olfactory transduction_Homo sapiens_hsa04740	2.12754963
8	Tryptophan metabolism_Homo sapiens_hsa00380	2.08232124
9	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	2.00433267
10	Linoleic acid metabolism_Homo sapiens_hsa00591	1.98036834
11	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.95898349
12	Fanconi anemia pathway_Homo sapiens_hsa03460	1.88884500
13	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.88805013
14	Homologous recombination_Homo sapiens_hsa03440	1.80941033
15	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.78245044
16	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.77407481
17	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.76781950
18	Nicotine addiction_Homo sapiens_hsa05033	1.74388153
19	Basal transcription factors_Homo sapiens_hsa03022	1.72405758
20	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.64175998
21	Selenocompound metabolism_Homo sapiens_hsa00450	1.63926116
22	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.58479918
23	Oxidative phosphorylation_Homo sapiens_hsa00190	1.58335174
24	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.57468956
25	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.49751230
26	Caffeine metabolism_Homo sapiens_hsa00232	1.49451893
27	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.44022521
28	Taste transduction_Homo sapiens_hsa04742	1.42992954
29	RNA polymerase_Homo sapiens_hsa03020	1.39154230
30	Chemical carcinogenesis_Homo sapiens_hsa05204	1.37826057
31	Parkinsons disease_Homo sapiens_hsa05012	1.33908881
32	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.31023312
33	RNA degradation_Homo sapiens_hsa03018	1.29559270
34	Gap junction_Homo sapiens_hsa04540	1.19307283
35	Peroxisome_Homo sapiens_hsa04146	1.18461815
36	beta-Alanine metabolism_Homo sapiens_hsa00410	1.17070199
37	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.13975502
38	Ether lipid metabolism_Homo sapiens_hsa00565	1.12158213
39	ABC transporters_Homo sapiens_hsa02010	1.10012335
40	Hedgehog signaling pathway_Homo sapiens_hsa04340	1.09046246
41	Protein export_Homo sapiens_hsa03060	1.06807937
42	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.05863881
43	Regulation of autophagy_Homo sapiens_hsa04140	1.03366948
44	Retinol metabolism_Homo sapiens_hsa00830	1.03086795
45	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.00802148
46	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.96461530
47	Morphine addiction_Homo sapiens_hsa05032	0.96375863
48	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.92238378
49	Purine metabolism_Homo sapiens_hsa00230	0.91957200
50	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.90047811
51	One carbon pool by folate_Homo sapiens_hsa00670	0.89917111
52	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.87051149
53	Huntingtons disease_Homo sapiens_hsa05016	0.85545378
54	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.85394303
55	Circadian entrainment_Homo sapiens_hsa04713	0.84000185
56	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.83396061
57	GABAergic synapse_Homo sapiens_hsa04727	0.80688815
58	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.79202230
59	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.78899661
60	Glutathione metabolism_Homo sapiens_hsa00480	0.77451606
61	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.76723238
62	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.75224440
63	Non-homologous end-joining_Homo sapiens_hsa03450	0.72372319
64	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.72081788
65	Salivary secretion_Homo sapiens_hsa04970	0.71021080
66	Calcium signaling pathway_Homo sapiens_hsa04020	0.69706298
67	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.69542546
68	Glutamatergic synapse_Homo sapiens_hsa04724	0.69325656
69	Metabolic pathways_Homo sapiens_hsa01100	0.69222214
70	Alzheimers disease_Homo sapiens_hsa05010	0.67859721
71	Insulin secretion_Homo sapiens_hsa04911	0.67774960
72	Serotonergic synapse_Homo sapiens_hsa04726	0.65573008
73	Fatty acid degradation_Homo sapiens_hsa00071	0.64432182
74	Circadian rhythm_Homo sapiens_hsa04710	0.64014302
75	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.63122258
76	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.61704903
77	Alcoholism_Homo sapiens_hsa05034	0.60848937
78	Proteasome_Homo sapiens_hsa03050	0.58886809
79	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.55811436
80	Pyrimidine metabolism_Homo sapiens_hsa00240	0.54578966
81	Cardiac muscle contraction_Homo sapiens_hsa04260	0.51738667
82	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.50425406
83	Glycerolipid metabolism_Homo sapiens_hsa00561	0.49749550
84	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.49496666
85	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.48376823
86	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.48245799
87	Collecting duct acid secretion_Homo sapiens_hsa04966	0.48234483
88	Fatty acid metabolism_Homo sapiens_hsa01212	0.47315829
89	Phagosome_Homo sapiens_hsa04145	0.47189344
90	Fat digestion and absorption_Homo sapiens_hsa04975	0.46545652
91	RNA transport_Homo sapiens_hsa03013	0.42654779
92	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.41793143
93	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.41745911
94	Arginine biosynthesis_Homo sapiens_hsa00220	0.41023205
95	Asthma_Homo sapiens_hsa05310	0.39332222
96	Histidine metabolism_Homo sapiens_hsa00340	0.37869956
97	Renin secretion_Homo sapiens_hsa04924	0.36413330
98	Pyruvate metabolism_Homo sapiens_hsa00620	0.35661969
99	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.34455551
100	Sphingolipid metabolism_Homo sapiens_hsa00600	0.34330402

TPTE2P2

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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