ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	sperm motility (GO:0030317)	8.55567799
2	acrosome reaction (GO:0007340)	7.87517362
3	response to pheromone (GO:0019236)	7.55684871
4	fusion of sperm to egg plasma membrane (GO:0007342)	7.26391981
5	protein polyglutamylation (GO:0018095)	6.70539404
6	sperm capacitation (GO:0048240)	6.33422125
7	single strand break repair (GO:0000012)	6.02995683
8	multicellular organism reproduction (GO:0032504)	5.64703660
9	spermatid development (GO:0007286)	5.62929097
10	plasma membrane fusion (GO:0045026)	5.57557555
11	protein targeting to Golgi (GO:0000042)	5.53017303
12	establishment of protein localization to Golgi (GO:0072600)	5.52136918
13	regulation of cilium movement (GO:0003352)	5.43579064
14	axonemal dynein complex assembly (GO:0070286)	5.42568599
15	retrograde transport, vesicle recycling within Golgi (GO:0000301)	5.13849628
16	microtubule depolymerization (GO:0007019)	5.03860356
17	centriole replication (GO:0007099)	4.95896938
18	epithelial cilium movement (GO:0003351)	4.82895794
19	calcium ion-dependent exocytosis (GO:0017156)	4.79274774
20	cilium or flagellum-dependent cell motility (GO:0001539)	4.76875162
21	reproduction (GO:0000003)	4.68705883
22	sperm-egg recognition (GO:0035036)	4.60238294
23	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	4.54692433
24	protein localization to Golgi apparatus (GO:0034067)	4.50840590
25	positive regulation of Rab GTPase activity (GO:0032851)	4.48343485
26	regulation of Rab GTPase activity (GO:0032313)	4.48343485
27	spermatid nucleus differentiation (GO:0007289)	4.43716376
28	regulation of transcription involved in cell fate commitment (GO:0060850)	4.39675173
29	microtubule polymerization or depolymerization (GO:0031109)	4.38742947
30	DNA packaging (GO:0006323)	4.30508331
31	seminiferous tubule development (GO:0072520)	4.28856392
32	chromosome condensation (GO:0030261)	4.28065437
33	microtubule severing (GO:0051013)	4.13944325
34	phosphatidylethanolamine biosynthetic process (GO:0006646)	4.11752317
35	cilium movement (GO:0003341)	4.06723119
36	spermatogenesis (GO:0007283)	4.05657051
37	male gamete generation (GO:0048232)	4.04499248
38	regulation of microtubule-based movement (GO:0060632)	4.04449734
39	cellular ketone body metabolic process (GO:0046950)	3.97122939
40	behavioral response to nicotine (GO:0035095)	3.94532459
41	phosphatidylethanolamine metabolic process (GO:0046337)	3.91026477
42	cell-cell recognition (GO:0009988)	3.79916911
43	centriole assembly (GO:0098534)	3.76816390
44	gamete generation (GO:0007276)	3.70049745
45	rRNA methylation (GO:0031167)	3.67311833
46	RNA destabilization (GO:0050779)	3.65374595
47	motile cilium assembly (GO:0044458)	3.58038212
48	cell wall macromolecule metabolic process (GO:0044036)	3.54389360
49	ketone body metabolic process (GO:1902224)	3.47177455
50	single fertilization (GO:0007338)	3.35033922
51	binding of sperm to zona pellucida (GO:0007339)	3.20571917
52	cerebral cortex neuron differentiation (GO:0021895)	3.19646253
53	rRNA modification (GO:0000154)	3.17675016
54	spinal cord motor neuron differentiation (GO:0021522)	3.16513009
55	nonmotile primary cilium assembly (GO:0035058)	3.16367109
56	cell wall macromolecule catabolic process (GO:0016998)	3.14619102
57	regulation of centriole replication (GO:0046599)	3.14447545
58	male meiosis I (GO:0007141)	3.14274966
59	axoneme assembly (GO:0035082)	3.13811340
60	positive regulation of action potential (GO:0045760)	3.11214826
61	germ cell development (GO:0007281)	3.08655217
62	nephron epithelium morphogenesis (GO:0072088)	2.98051160
63	nephron tubule morphogenesis (GO:0072078)	2.98051160
64	cilium assembly (GO:0042384)	2.97119036
65	cilium organization (GO:0044782)	2.96268124
66	regulation of inhibitory postsynaptic membrane potential (GO:0060080)	2.96145675
67	response to acidic pH (GO:0010447)	2.92352881
68	cellular process involved in reproduction in multicellular organism (GO:0022412)	2.90017851
69	multicellular organismal reproductive process (GO:0048609)	2.88565510
70	multicellular organismal movement (GO:0050879)	2.86561174
71	musculoskeletal movement (GO:0050881)	2.86561174
72	organic cation transport (GO:0015695)	2.83367243
73	DNA methylation involved in gamete generation (GO:0043046)	2.82629385
74	negative regulation of inclusion body assembly (GO:0090084)	2.79503425
75	substrate-independent telencephalic tangential interneuron migration (GO:0021843)	2.78883518
76	substrate-independent telencephalic tangential migration (GO:0021826)	2.78883518
77	detection of light stimulus involved in visual perception (GO:0050908)	2.78112694
78	detection of light stimulus involved in sensory perception (GO:0050962)	2.78112694
79	pyrimidine nucleobase catabolic process (GO:0006208)	2.77653070
80	fertilization (GO:0009566)	2.77057804
81	neuronal ion channel clustering (GO:0045161)	2.76497757
82	synaptic transmission, cholinergic (GO:0007271)	2.75916106
83	sexual reproduction (GO:0019953)	2.75527828
84	Golgi to endosome transport (GO:0006895)	2.75295748
85	chromatin silencing (GO:0006342)	2.73056597
86	peptidyl-threonine dephosphorylation (GO:0035970)	2.69606388
87	negative regulation of telomere maintenance (GO:0032205)	2.69356156
88	cell differentiation in spinal cord (GO:0021515)	2.66827207
89	cell proliferation in forebrain (GO:0021846)	2.66107905
90	neurofilament cytoskeleton organization (GO:0060052)	2.65884345
91	pattern specification involved in kidney development (GO:0061004)	2.65044857
92	cartilage development involved in endochondral bone morphogenesis (GO:0060351)	2.64810854
93	microtubule nucleation (GO:0007020)	2.64027088
94	membrane depolarization during action potential (GO:0086010)	2.62147279
95	positive regulation of guanylate cyclase activity (GO:0031284)	2.55899606
96	alanine transport (GO:0032328)	2.54972474
97	negative regulation of Rho protein signal transduction (GO:0035024)	2.54674510
98	transmission of nerve impulse (GO:0019226)	2.54205352
99	cell recognition (GO:0008037)	2.54124540
100	microtubule bundle formation (GO:0001578)	2.53235383

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	EZH2_22144423_ChIP-Seq_EOC_Human	5.51801631
2	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	4.37885894
3	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.75493412
4	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	2.49381553
5	ZNF274_21170338_ChIP-Seq_K562_Hela	2.28898369
6	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.18825673
7	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.18615219
8	DROSHA_22980978_ChIP-Seq_HELA_Human	2.13608682
9	CBX2_27304074_Chip-Seq_ESCs_Mouse	2.12107720
10	EZH2_27304074_Chip-Seq_ESCs_Mouse	1.99517466
11	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.93169618
12	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.93169618
13	SUZ12_27294783_Chip-Seq_ESCs_Mouse	1.93152112
14	MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human	1.89503334
15	CBP_20019798_ChIP-Seq_JUKART_Human	1.88428019
16	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.88428019
17	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.88098174
18	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.81513817
19	REST_21632747_ChIP-Seq_MESCs_Mouse	1.80942954
20	TAF15_26573619_Chip-Seq_HEK293_Human	1.79731808
21	JARID2_20064375_ChIP-Seq_MESCs_Mouse	1.76435831
22	FUS_26573619_Chip-Seq_HEK293_Human	1.71282711
23	VDR_22108803_ChIP-Seq_LS180_Human	1.70172671
24	GBX2_23144817_ChIP-Seq_PC3_Human	1.66454532
25	ER_23166858_ChIP-Seq_MCF-7_Human	1.63279022
26	ERA_21632823_ChIP-Seq_H3396_Human	1.61314717
27	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.58036549
28	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.56613676
29	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.55558843
30	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	1.55355640
31	CTCF_27219007_Chip-Seq_Bcells_Human	1.53625091
32	WDR5_24793694_ChIP-Seq_LNCAP_Human	1.51056755
33	NANOG_20526341_ChIP-Seq_ESCs_Human	1.47682568
34	RBPJ_21746931_ChIP-Seq_IB4-LCL_Human	1.47349095
35	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.45819956
36	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.45390301
37	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.43885623
38	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.42505157
39	MYC_19829295_ChIP-Seq_ESCs_Human	1.41363851
40	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.40740007
41	AR_25329375_ChIP-Seq_VCAP_Human	1.39808906
42	AR_21572438_ChIP-Seq_LNCaP_Human	1.39736200
43	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.38231913
44	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.36835740
45	P300_19829295_ChIP-Seq_ESCs_Human	1.35164495
46	TP63_19390658_ChIP-ChIP_HaCaT_Human	1.33676281
47	TAF2_19829295_ChIP-Seq_ESCs_Human	1.33062012
48	REST_18959480_ChIP-ChIP_MESCs_Mouse	1.32912798
49	RNF2_27304074_Chip-Seq_NSC_Mouse	1.31413976
50	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.30092777
51	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	1.29725646
52	RNF2_27304074_Chip-Seq_ESCs_Mouse	1.29159712
53	EBNA1_20929547_Chip-Seq_RAJI-cells_Human	1.28638531
54	RNF2_18974828_ChIP-Seq_MESCs_Mouse	1.28379957
55	EZH2_18974828_ChIP-Seq_MESCs_Mouse	1.28379957
56	SUZ12_20075857_ChIP-Seq_MESCs_Mouse	1.27732543
57	BCL6_27268052_Chip-Seq_Bcells_Human	1.27363150
58	OCT4_20526341_ChIP-Seq_ESCs_Human	1.26530098
59	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.26342931
60	RAC3_21632823_ChIP-Seq_H3396_Human	1.26027590
61	SMAD3_21741376_ChIP-Seq_ESCs_Human	1.23730420
62	E2F1_20622854_ChIP-Seq_HELA_Human	1.23339935
63	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.23172500
64	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.21986856
65	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.21671997
66	TDRD3_21172665_ChIP-Seq_MCF-7_Human	1.21114057
67	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.21048567
68	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.18850629
69	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	1.17517106
70	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.16834501
71	VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human	1.16674791
72	RUNX2_22187159_ChIP-Seq_PCA_Human	1.14007896
73	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.11828456
74	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.10353313
75	CTCF_20526341_ChIP-Seq_ESCs_Human	1.10004632
76	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	1.09972325
77	SMAD4_21799915_ChIP-Seq_A2780_Human	1.07870803
78	PHC1_16625203_ChIP-ChIP_MESCs_Mouse	1.07743253
79	ELF1_20517297_ChIP-Seq_JURKAT_Human	1.06628176
80	SUZ12_18974828_ChIP-Seq_MESCs_Mouse	1.06442708
81	STAT3_23295773_ChIP-Seq_U87_Human	1.06379175
82	P53_21459846_ChIP-Seq_SAOS-2_Human	1.05728029
83	MTF2_20144788_ChIP-Seq_MESCs_Mouse	1.05233563
84	PHF8_20622854_ChIP-Seq_HELA_Human	1.03414559
85	P68_20966046_ChIP-Seq_HELA_Human	1.03364028
86	NCOR_22424771_ChIP-Seq_293T_Human	1.03359633
87	RCOR3_21632747_ChIP-Seq_MESCs_Mouse	1.02432022
88	TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.02405736
89	ETV1_20927104_ChIP-Seq_GIST48_Human	1.02313755
90	SMC4_20622854_ChIP-Seq_HELA_Human	1.01192796
91	TBL1_22424771_ChIP-Seq_293T_Human	0.99942111
92	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	0.99217701
93	ERG_20517297_ChIP-Seq_VCAP_Human	0.97771618
94	YY1_22570637_ChIP-Seq_MALME-3M_Human	0.97692535
95	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	0.96643865
96	NFYB_21822215_ChIP-Seq_K562_Human	0.96484898
97	SOX2_19829295_ChIP-Seq_ESCs_Human	0.96313243
98	NANOG_19829295_ChIP-Seq_ESCs_Human	0.96313243
99	TCF4_23295773_ChIP-Seq_U87_Human	0.96148963
100	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	0.95996344

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0005410_abnormal_fertilization	6.18389432
2	MP0005377_hearing/vestibular/ear_phenot	3.81835657
3	MP0003878_abnormal_ear_physiology	3.81835657
4	MP0006292_abnormal_olfactory_placode	3.52621926
5	MP0002822_catalepsy	2.87635019
6	MP0003698_abnormal_male_reproductive	2.56498828
7	MP0005670_abnormal_white_adipose	2.44679155
8	MP0001348_abnormal_lacrimal_gland	2.30708036
9	MP0002234_abnormal_pharynx_morphology	2.11761714
10	MP0003787_abnormal_imprinting	2.11341393
11	MP0005423_abnormal_somatic_nervous	2.08241045
12	MP0001929_abnormal_gametogenesis	2.06301004
13	MP0005379_endocrine/exocrine_gland_phen	2.00607556
14	MP0003880_abnormal_central_pattern	1.99588865
15	MP0001968_abnormal_touch/_nociception	1.94596675
16	MP0001485_abnormal_pinna_reflex	1.90836673
17	MP0000566_synostosis	1.90033573
18	MP0005551_abnormal_eye_electrophysiolog	1.89873043
19	MP0006276_abnormal_autonomic_nervous	1.89839029
20	MP0003646_muscle_fatigue	1.87823423
21	MP0004742_abnormal_vestibular_system	1.83137099
22	MP0008877_abnormal_DNA_methylation	1.71962514
23	MP0001486_abnormal_startle_reflex	1.67676147
24	MP0008789_abnormal_olfactory_epithelium	1.64667991
25	MP0004859_abnormal_synaptic_plasticity	1.61545414
26	MP0002735_abnormal_chemical_nociception	1.60757229
27	MP0009745_abnormal_behavioral_response	1.54040397
28	MP0000049_abnormal_middle_ear	1.53901414
29	MP0003879_abnormal_hair_cell	1.52777744
30	MP0002653_abnormal_ependyma_morphology	1.52258135
31	MP0002272_abnormal_nervous_system	1.51586609
32	MP0005394_taste/olfaction_phenotype	1.50540547
33	MP0005499_abnormal_olfactory_system	1.50540547
34	MP0003122_maternal_imprinting	1.49435639
35	MP0000026_abnormal_inner_ear	1.47363806
36	MP0000778_abnormal_nervous_system	1.45218183
37	MP0003011_delayed_dark_adaptation	1.44647866
38	MP0001905_abnormal_dopamine_level	1.42831020
39	MP0002163_abnormal_gland_morphology	1.41788681
40	MP0009379_abnormal_foot_pigmentation	1.41327347
41	MP0002557_abnormal_social/conspecific_i	1.40101193
42	MP0002733_abnormal_thermal_nociception	1.39346546
43	MP0000955_abnormal_spinal_cord	1.38519202
44	MP0002161_abnormal_fertility/fecundity	1.38197307
45	MP0004142_abnormal_muscle_tone	1.36755975
46	MP0002210_abnormal_sex_determination	1.33414184
47	MP0001963_abnormal_hearing_physiology	1.31579256
48	MP0003121_genomic_imprinting	1.30188155
49	MP0002572_abnormal_emotion/affect_behav	1.30120291
50	MP0003635_abnormal_synaptic_transmissio	1.26253990
51	MP0002138_abnormal_hepatobiliary_system	1.25987784
52	MP0004133_heterotaxia	1.24872277
53	MP0002067_abnormal_sensory_capabilities	1.24037522
54	MP0001970_abnormal_pain_threshold	1.23026040
55	MP0002734_abnormal_mechanical_nocicepti	1.20529252
56	MP0004885_abnormal_endolymph	1.18027651
57	MP0000678_abnormal_parathyroid_gland	1.16651919
58	MP0002736_abnormal_nociception_after	1.16266887
59	MP0002249_abnormal_larynx_morphology	1.15613971
60	MP0001440_abnormal_grooming_behavior	1.15430307
61	MP0001293_anophthalmia	1.15312176
62	MP0005253_abnormal_eye_physiology	1.10908826
63	MP0002282_abnormal_trachea_morphology	1.09847362
64	MP0009046_muscle_twitch	1.07680347
65	MP0002752_abnormal_somatic_nervous	1.06393011
66	MP0002928_abnormal_bile_duct	1.05830186
67	MP0002184_abnormal_innervation	1.05499465
68	MP0002063_abnormal_learning/memory/cond	1.02505853
69	MP0008995_early_reproductive_senescence	1.02328641
70	MP0002638_abnormal_pupillary_reflex	1.01576278
71	MP0000631_abnormal_neuroendocrine_gland	1.00839561
72	MP0005195_abnormal_posterior_eye	1.00292984
73	MP0002064_seizures	0.99500583
74	MP0001984_abnormal_olfaction	0.97557451
75	MP0005646_abnormal_pituitary_gland	0.97312691
76	MP0002882_abnormal_neuron_morphology	0.95794836
77	MP0000653_abnormal_sex_gland	0.95704317
78	MP0002229_neurodegeneration	0.94357658
79	MP0002837_dystrophic_cardiac_calcinosis	0.93451094
80	MP0003718_maternal_effect	0.92831658
81	MP0001145_abnormal_male_reproductive	0.91826280
82	MP0003283_abnormal_digestive_organ	0.91252184
83	MP0001529_abnormal_vocalization	0.89993512
84	MP0009053_abnormal_anal_canal	0.89548113
85	MP0003136_yellow_coat_color	0.89297568
86	MP0005645_abnormal_hypothalamus_physiol	0.87813553
87	MP0001324_abnormal_eye_pigmentation	0.84563510
88	MP0006072_abnormal_retinal_apoptosis	0.84396342
89	MP0002102_abnormal_ear_morphology	0.83284124
90	MP0003938_abnormal_ear_development	0.82183751
91	MP0001765_abnormal_ion_homeostasis	0.79564554
92	MP0005391_vision/eye_phenotype	0.76603332
93	MP0002938_white_spotting	0.72335464
94	MP0004270_analgesia	0.71684702
95	MP0008872_abnormal_physiological_respon	0.71357772
96	MP0005084_abnormal_gallbladder_morpholo	0.67238826
97	MP0000427_abnormal_hair_cycle	0.67032376
98	MP0002132_abnormal_respiratory_system	0.64227152
99	MP0010386_abnormal_urinary_bladder	0.63428559
100	MP0002152_abnormal_brain_morphology	0.63408647

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Severe visual impairment (HP:0001141)	5.37340537
2	Dynein arm defect of respiratory motile cilia (HP:0012255)	4.70127249
3	Absent/shortened dynein arms (HP:0200106)	4.70127249
4	Nephronophthisis (HP:0000090)	4.36807689
5	Chronic hepatic failure (HP:0100626)	4.25105455
6	Bony spicule pigmentary retinopathy (HP:0007737)	4.21210962
7	Abnormal respiratory epithelium morphology (HP:0012253)	4.02560910
8	Abnormal respiratory motile cilium morphology (HP:0005938)	4.02560910
9	Abnormal rod and cone electroretinograms (HP:0008323)	3.91979851
10	Abnormal ciliary motility (HP:0012262)	3.91894814
11	Attenuation of retinal blood vessels (HP:0007843)	3.79668451
12	Abnormality of the renal medulla (HP:0100957)	3.71686379
13	Abnormal respiratory motile cilium physiology (HP:0012261)	3.63323279
14	Progressive cerebellar ataxia (HP:0002073)	3.42371533
15	Abnormal drinking behavior (HP:0030082)	3.37852225
16	Polydipsia (HP:0001959)	3.37852225
17	Pancreatic fibrosis (HP:0100732)	3.30138501
18	Molar tooth sign on MRI (HP:0002419)	3.21136874
19	Abnormality of midbrain morphology (HP:0002418)	3.21136874
20	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	3.13115541
21	Tubulointerstitial nephritis (HP:0001970)	3.08165454
22	Pancreatic cysts (HP:0001737)	3.03169183
23	Polyuria (HP:0000103)	2.88989668
24	Bell-shaped thorax (HP:0001591)	2.84886177
25	Impulsivity (HP:0100710)	2.84359806
26	Abnormal urine output (HP:0012590)	2.84173674
27	Tubular atrophy (HP:0000092)	2.79218488
28	Hypoplastic ischia (HP:0003175)	2.76126306
29	True hermaphroditism (HP:0010459)	2.74640242
30	Infertility (HP:0000789)	2.74435706
31	Cystic liver disease (HP:0006706)	2.70501904
32	Hyperkalemia (HP:0002153)	2.61049760
33	Abnormality of macular pigmentation (HP:0008002)	2.58161734
34	Abnormality of the aortic arch (HP:0012303)	2.57379431
35	Myokymia (HP:0002411)	2.57103794
36	Type II lissencephaly (HP:0007260)	2.55566359
37	Male infertility (HP:0003251)	2.51743702
38	Abnormality of renal excretion (HP:0011036)	2.50467113
39	Occipital encephalocele (HP:0002085)	2.49989310
40	Facial shape deformation (HP:0011334)	2.48767226
41	Potter facies (HP:0002009)	2.48767226
42	Enlarged epiphyses (HP:0010580)	2.46603000
43	Renal dysplasia (HP:0000110)	2.44215323
44	Aplasia/Hypoplasia of the pubic bone (HP:0009104)	2.39847288
45	Abnormality of the renal cortex (HP:0011035)	2.38465386
46	Congenital stationary night blindness (HP:0007642)	2.38208135
47	Pendular nystagmus (HP:0012043)	2.31105115
48	Medial flaring of the eyebrow (HP:0010747)	2.30618914
49	Tubulointerstitial abnormality (HP:0001969)	2.29908779
50	Abnormality of the ischium (HP:0003174)	2.29871055
51	Sclerocornea (HP:0000647)	2.29281438
52	Aplasia/Hypoplasia of the earlobes (HP:0009906)	2.27272780
53	Renal Fanconi syndrome (HP:0001994)	2.27134623
54	Optic nerve hypoplasia (HP:0000609)	2.25938784
55	Amblyopia (HP:0000646)	2.22467127
56	Rhinitis (HP:0012384)	2.22000230
57	Cerebellar dysplasia (HP:0007033)	2.18789971
58	Congenital hepatic fibrosis (HP:0002612)	2.16739883
59	Anencephaly (HP:0002323)	2.14722584
60	Gait imbalance (HP:0002141)	2.14711773
61	Asymmetric septal hypertrophy (HP:0001670)	2.13771535
62	Decreased central vision (HP:0007663)	2.12586416
63	Anterior segment dysgenesis (HP:0007700)	2.09841172
64	Nasal polyposis (HP:0100582)	2.00146277
65	Stage 5 chronic kidney disease (HP:0003774)	1.98834598
66	Absent rod-and cone-mediated responses on ERG (HP:0007688)	1.98097414
67	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	1.96196769
68	Retinal dysplasia (HP:0007973)	1.94642412
69	Epiphyseal dysplasia (HP:0002656)	1.94320479
70	Parkinsonism with favorable response to dopaminergic medication (HP:0002548)	1.92707848
71	Congenital primary aphakia (HP:0007707)	1.91240613
72	Abnormality of the labia minora (HP:0012880)	1.88665610
73	Nephrogenic diabetes insipidus (HP:0009806)	1.86808609
74	Postaxial foot polydactyly (HP:0001830)	1.85265600
75	Genital tract atresia (HP:0001827)	1.84966967
76	Cone-rod dystrophy (HP:0000548)	1.83071302
77	Bulbous nose (HP:0000414)	1.82986199
78	Esophageal atresia (HP:0002032)	1.82727942
79	Vaginal atresia (HP:0000148)	1.82336530
80	Lissencephaly (HP:0001339)	1.81706455
81	Anophthalmia (HP:0000528)	1.81196840
82	Chronic bronchitis (HP:0004469)	1.80495358
83	Failure to thrive in infancy (HP:0001531)	1.80387787
84	Abnormality of potassium homeostasis (HP:0011042)	1.79608448
85	Intellectual disability, moderate (HP:0002342)	1.79339436
86	Congenital sensorineural hearing impairment (HP:0008527)	1.77326383
87	Abnormality of dental color (HP:0011073)	1.77030454
88	Abnormality of renal resorption (HP:0011038)	1.76832078
89	Abnormality of the pubic bones (HP:0003172)	1.76794092
90	Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)	1.76534414
91	Absent epiphyses (HP:0010577)	1.76534414
92	Glycosuria (HP:0003076)	1.75401328
93	Abnormality of urine glucose concentration (HP:0011016)	1.75401328
94	Aplasia/Hypoplasia of the sacrum (HP:0008517)	1.74787179
95	Portal hypertension (HP:0001409)	1.73743329
96	Azoospermia (HP:0000027)	1.72243162
97	Abnormality of the epiphysis of the femoral head (HP:0010574)	1.70699639
98	Tubulointerstitial fibrosis (HP:0005576)	1.70522326
99	Growth hormone deficiency (HP:0000824)	1.70072033
100	Genetic anticipation (HP:0003743)	1.69924782

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	PLK4	5.83679224
2	DDR2	3.47083141
3	INSRR	3.17456426
4	TESK1	2.99314847
5	WNK4	2.71214882
6	PNCK	2.40284138
7	SIK2	2.39622286
8	MARK1	2.23641679
9	MAP4K2	2.18430633
10	MAPK15	2.12571743
11	PLK2	2.06054312
12	CASK	1.90888205
13	FRK	1.84966146
14	TLK1	1.82217565
15	STK38L	1.80836258
16	CDK19	1.74578520
17	CAMK1G	1.70474888
18	ADRBK2	1.56335904
19	DYRK2	1.50598764
20	MAP3K4	1.47307612
21	ZAK	1.47238756
22	WNK1	1.44778695
23	MAPK13	1.40634741
24	OXSR1	1.38917215
25	NTRK3	1.37881491
26	PINK1	1.34847202
27	STK38	1.32190802
28	MAP3K11	1.31156397
29	DYRK1B	1.30294835
30	STK39	1.19889358
31	TESK2	1.18386856
32	MAP2K7	1.15804941
33	BMPR1B	1.15496729
34	WNK3	1.15233147
35	PRKD3	1.13458470
36	PRKCG	1.11082812
37	GRK1	1.10269895
38	EPHB2	1.09784245
39	TYRO3	1.04894314
40	MAP2K6	1.04861366
41	STK16	1.01576136
42	TNIK	1.01436269
43	MST1R	0.98404334
44	NTRK2	0.97514677
45	NME1	0.97460363
46	CAMK1D	0.96910499
47	TIE1	0.92767806
48	BCKDK	0.91037968
49	RPS6KA2	0.85958773
50	DYRK3	0.84728528
51	MUSK	0.84501098
52	SGK223	0.82978231
53	SGK494	0.82978231
54	TAOK3	0.74765280
55	CAMK1	0.74676063
56	NUAK1	0.73307631
57	PRKCZ	0.70126170
58	ACVR1B	0.67400797
59	UHMK1	0.67178331
60	PRKG1	0.66631642
61	PTK2B	0.65108281
62	PDK1	0.64635082
63	MINK1	0.63439977
64	MAP2K4	0.63028887
65	NEK2	0.62738546
66	RPS6KA6	0.61393894
67	PAK3	0.58888249
68	STK11	0.58679037
69	SGK1	0.56275353
70	TNK2	0.56075919
71	PKN1	0.55368095
72	PRKCH	0.52971407
73	PRKCE	0.52889324
74	TXK	0.52394673
75	PDPK1	0.51281029
76	CAMKK2	0.50935413
77	CDK3	0.50861742
78	PRKACA	0.50661475
79	MAP2K2	0.50171111
80	MAP3K9	0.49529867
81	SGK2	0.49013304
82	DAPK2	0.47648676
83	PHKG1	0.47348068
84	PHKG2	0.47348068
85	RPS6KL1	0.46071242
86	RPS6KC1	0.46071242
87	BRSK2	0.45313094
88	CDK5	0.44812368
89	PRKAA2	0.44582364
90	GRK7	0.44045924
91	RPS6KA1	0.43695589
92	BRD4	0.41164376
93	PRKCQ	0.40509035
94	CDK7	0.39980349
95	MAPKAPK5	0.38153799
96	EPHA4	0.36001367
97	DYRK1A	0.34854083
98	GSK3B	0.34765033
99	PRKACB	0.34581306
100	CAMK2A	0.33806371

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	4.72836156
2	Olfactory transduction_Homo sapiens_hsa04740	3.03729381
3	Fatty acid biosynthesis_Homo sapiens_hsa00061	3.00070291
4	Phototransduction_Homo sapiens_hsa04744	2.87912857
5	Nicotine addiction_Homo sapiens_hsa05033	2.86279662
6	Cardiac muscle contraction_Homo sapiens_hsa04260	2.48845148
7	Butanoate metabolism_Homo sapiens_hsa00650	2.36863343
8	Oxidative phosphorylation_Homo sapiens_hsa00190	2.23652823
9	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	2.19502771
10	Taste transduction_Homo sapiens_hsa04742	1.84198925
11	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.83203477
12	Morphine addiction_Homo sapiens_hsa05032	1.82485706
13	Huntingtons disease_Homo sapiens_hsa05016	1.77018365
14	Ribosome_Homo sapiens_hsa03010	1.76092432
15	Linoleic acid metabolism_Homo sapiens_hsa00591	1.69306447
16	Parkinsons disease_Homo sapiens_hsa05012	1.56376224
17	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	1.49228645
18	Circadian entrainment_Homo sapiens_hsa04713	1.47893674
19	Glutamatergic synapse_Homo sapiens_hsa04724	1.45379264
20	ABC transporters_Homo sapiens_hsa02010	1.44647277
21	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.43728137
22	Fanconi anemia pathway_Homo sapiens_hsa03460	1.38257346
23	Glycerophospholipid metabolism_Homo sapiens_hsa00564	1.35788798
24	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.35333800
25	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.34333657
26	Dorso-ventral axis formation_Homo sapiens_hsa04320	1.34085088
27	Synaptic vesicle cycle_Homo sapiens_hsa04721	1.32518193
28	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.29532548
29	GABAergic synapse_Homo sapiens_hsa04727	1.26179331
30	Selenocompound metabolism_Homo sapiens_hsa00450	1.22230999
31	Insulin secretion_Homo sapiens_hsa04911	1.20586503
32	Hedgehog signaling pathway_Homo sapiens_hsa04340	1.15405595
33	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	1.13728532
34	Salivary secretion_Homo sapiens_hsa04970	1.10356401
35	Alzheimers disease_Homo sapiens_hsa05010	1.09033909
36	Homologous recombination_Homo sapiens_hsa03440	1.08795333
37	Fatty acid degradation_Homo sapiens_hsa00071	1.05949929
38	Basal transcription factors_Homo sapiens_hsa03022	1.05047155
39	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	1.03761565
40	Glycerolipid metabolism_Homo sapiens_hsa00561	1.00427150
41	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.99467872
42	Serotonergic synapse_Homo sapiens_hsa04726	0.98122762
43	Nitrogen metabolism_Homo sapiens_hsa00910	0.97131935
44	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.94935819
45	cAMP signaling pathway_Homo sapiens_hsa04024	0.94270921
46	Cholinergic synapse_Homo sapiens_hsa04725	0.94065828
47	Calcium signaling pathway_Homo sapiens_hsa04020	0.93758392
48	Tryptophan metabolism_Homo sapiens_hsa00380	0.90766860
49	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	0.90723152
50	Sulfur relay system_Homo sapiens_hsa04122	0.88771010
51	Peroxisome_Homo sapiens_hsa04146	0.87739784
52	Retinol metabolism_Homo sapiens_hsa00830	0.85174567
53	Ether lipid metabolism_Homo sapiens_hsa00565	0.84206074
54	Type II diabetes mellitus_Homo sapiens_hsa04930	0.83828149
55	Cocaine addiction_Homo sapiens_hsa05030	0.83190093
56	Fatty acid metabolism_Homo sapiens_hsa01212	0.81218265
57	Regulation of autophagy_Homo sapiens_hsa04140	0.80690344
58	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.80050707
59	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.79975129
60	Basal cell carcinoma_Homo sapiens_hsa05217	0.78850847
61	Dopaminergic synapse_Homo sapiens_hsa04728	0.77331110
62	Caffeine metabolism_Homo sapiens_hsa00232	0.75995695
63	Gastric acid secretion_Homo sapiens_hsa04971	0.72944062
64	Axon guidance_Homo sapiens_hsa04360	0.72018581
65	Collecting duct acid secretion_Homo sapiens_hsa04966	0.71824116
66	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.71372880
67	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.71302317
68	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.71118545
69	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.70949554
70	Chemical carcinogenesis_Homo sapiens_hsa05204	0.69242760
71	Fat digestion and absorption_Homo sapiens_hsa04975	0.68982564
72	Propanoate metabolism_Homo sapiens_hsa00640	0.67103909
73	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.65494316
74	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.64612797
75	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.64460678
76	Carbohydrate digestion and absorption_Homo sapiens_hsa04973	0.63838402
77	Purine metabolism_Homo sapiens_hsa00230	0.60943126
78	Type I diabetes mellitus_Homo sapiens_hsa04940	0.60203929
79	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.54658617
80	Bile secretion_Homo sapiens_hsa04976	0.54588518
81	RNA polymerase_Homo sapiens_hsa03020	0.53060958
82	Metabolic pathways_Homo sapiens_hsa01100	0.51230890
83	Amphetamine addiction_Homo sapiens_hsa05031	0.51229633
84	Protein digestion and absorption_Homo sapiens_hsa04974	0.51041614
85	Renin secretion_Homo sapiens_hsa04924	0.50613665
86	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.50249977
87	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.50018433
88	MAPK signaling pathway_Homo sapiens_hsa04010	0.46968898
89	Arginine and proline metabolism_Homo sapiens_hsa00330	0.46161908
90	Adipocytokine signaling pathway_Homo sapiens_hsa04920	0.44481977
91	Graft-versus-host disease_Homo sapiens_hsa05332	0.43154414
92	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.42075068
93	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.41772782
94	Long-term depression_Homo sapiens_hsa04730	0.40389998
95	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.39963052
96	Autoimmune thyroid disease_Homo sapiens_hsa05320	0.39526056
97	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	0.39518971
98	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.39420251
99	Phenylalanine metabolism_Homo sapiens_hsa00360	0.37655132
100	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.36720482

TBC1D3I

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)

Most similar genes based on co-expression Upload to Enrichr

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