ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	acrosome reaction (GO:0007340)	9.02948617
2	spermatid development (GO:0007286)	8.67877748
3	regulation of oxidative stress-induced neuron death (GO:1903203)	8.60746029
4	sperm motility (GO:0030317)	8.02441610
5	binding of sperm to zona pellucida (GO:0007339)	7.92161495
6	nucleosome disassembly (GO:0006337)	7.41978763
7	protein-DNA complex disassembly (GO:0032986)	7.41978763
8	regulation of oxidative phosphorylation (GO:0002082)	7.36641734
9	multicellular organism reproduction (GO:0032504)	7.35589534
10	relaxation of smooth muscle (GO:0044557)	7.29255760
11	motile cilium assembly (GO:0044458)	7.15897447
12	potassium ion export (GO:0071435)	6.83943760
13	synapsis (GO:0007129)	6.61333022
14	polyamine biosynthetic process (GO:0006596)	6.46459622
15	axonemal dynein complex assembly (GO:0070286)	6.37040540
16	negative regulation of hydrogen peroxide-induced cell death (GO:1903206)	6.29038651
17	sperm-egg recognition (GO:0035036)	6.20921257
18	organic cation transport (GO:0015695)	6.04060998
19	cGMP-mediated signaling (GO:0019934)	5.95493123
20	Leydig cell differentiation (GO:0033327)	5.92260300
21	cilium or flagellum-dependent cell motility (GO:0001539)	5.80490689
22	activation of protein kinase B activity (GO:0032148)	5.79521503
23	male sex determination (GO:0030238)	5.79369487
24	regulation of hydrogen peroxide-induced cell death (GO:1903205)	5.75517976
25	negative regulation of response to reactive oxygen species (GO:1901032)	5.73007393
26	cell-cell recognition (GO:0009988)	5.48476705
27	TOR signaling (GO:0031929)	5.26674018
28	epithelial cilium movement (GO:0003351)	5.17188083
29	reproduction (GO:0000003)	5.15337525
30	regulation of autophagic vacuole assembly (GO:2000785)	5.06133225
31	germ cell development (GO:0007281)	5.03953830
32	glutamine family amino acid catabolic process (GO:0009065)	5.03219613
33	regulation of dopamine secretion (GO:0014059)	5.02988772
34	glycogen metabolic process (GO:0005977)	4.93835806
35	regulation of cellular respiration (GO:0043457)	4.92098804
36	histone exchange (GO:0043486)	4.90159289
37	single fertilization (GO:0007338)	4.89988830
38	positive regulation of glycolytic process (GO:0045821)	4.89748931
39	glucan metabolic process (GO:0044042)	4.89308411
40	cellular glucan metabolic process (GO:0006073)	4.89308411
41	androgen biosynthetic process (GO:0006702)	4.83979940
42	negative regulation of cardiac muscle cell apoptotic process (GO:0010667)	4.79540446
43	chromosome organization involved in meiosis (GO:0070192)	4.78560653
44	gonadal mesoderm development (GO:0007506)	4.61861669
45	tongue development (GO:0043586)	4.55484187
46	response to acidic pH (GO:0010447)	4.48948883
47	ventricular system development (GO:0021591)	4.45165031
48	acrosome assembly (GO:0001675)	4.41849423
49	oogenesis (GO:0048477)	4.40616753
50	mitochondrion degradation (GO:0000422)	4.39219782
51	coenzyme catabolic process (GO:0009109)	4.31133126
52	cellular biogenic amine biosynthetic process (GO:0042401)	4.29130902
53	amine biosynthetic process (GO:0009309)	4.24625224
54	regulation of synaptic transmission, dopaminergic (GO:0032225)	4.23980067
55	meiotic nuclear division (GO:0007126)	4.23486614
56	fusion of sperm to egg plasma membrane (GO:0007342)	4.21312141
57	membrane repolarization during action potential (GO:0086011)	4.17712355
58	regulation of vacuole organization (GO:0044088)	4.16110023
59	cilium movement (GO:0003341)	4.14029421
60	dicarboxylic acid biosynthetic process (GO:0043650)	3.98270657
61	cellular process involved in reproduction in multicellular organism (GO:0022412)	3.97970253
62	negative regulation of inclusion body assembly (GO:0090084)	3.96712315
63	regulation of phosphatase activity (GO:0010921)	3.96396214
64	calcium ion-dependent exocytosis (GO:0017156)	3.94218739
65	diacylglycerol metabolic process (GO:0046339)	3.89672628
66	positive regulation of amine transport (GO:0051954)	3.87840773
67	polyamine metabolic process (GO:0006595)	3.84589149
68	DNA double-strand break processing (GO:0000729)	3.83586945
69	aspartate family amino acid catabolic process (GO:0009068)	3.81468886
70	negative regulation of smooth muscle contraction (GO:0045986)	3.79894839
71	negative regulation of JNK cascade (GO:0046329)	3.79478051
72	cellular response to toxic substance (GO:0097237)	3.74745023
73	negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)	3.72633704
74	oligosaccharide biosynthetic process (GO:0009312)	3.66820529
75	synaptonemal complex assembly (GO:0007130)	3.66704299
76	phosphatidylethanolamine biosynthetic process (GO:0006646)	3.64653102
77	membrane repolarization (GO:0086009)	3.63425672
78	regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)	3.54913177
79	cellular polysaccharide metabolic process (GO:0044264)	3.44321127
80	fertilization (GO:0009566)	3.41754704
81	negative regulation of stress-activated MAPK cascade (GO:0032873)	3.37996472
82	negative regulation of stress-activated protein kinase signaling cascade (GO:0070303)	3.37996472
83	histone H3-K9 demethylation (GO:0033169)	3.35633852
84	plasma membrane fusion (GO:0045026)	3.32604787
85	phosphatidylethanolamine metabolic process (GO:0046337)	3.30972642
86	piRNA metabolic process (GO:0034587)	3.30011346
87	synaptonemal complex organization (GO:0070193)	3.28740032
88	polysaccharide metabolic process (GO:0005976)	3.24154069
89	indole-containing compound catabolic process (GO:0042436)	3.23309331
90	indolalkylamine catabolic process (GO:0046218)	3.23309331
91	tryptophan catabolic process (GO:0006569)	3.23309331
92	nucleosome assembly (GO:0006334)	3.23095873
93	regulation of dephosphorylation (GO:0035303)	3.14304862
94	DNA synthesis involved in DNA repair (GO:0000731)	3.14096877
95	potassium ion import (GO:0010107)	3.08656495
96	negative regulation of striated muscle cell apoptotic process (GO:0010664)	3.07002628
97	positive regulation of synaptic transmission, dopaminergic (GO:0032226)	11.6076001
98	regulation of phosphoprotein phosphatase activity (GO:0043666)	11.1723251
99	positive regulation of catecholamine secretion (GO:0033605)	10.4508238
100	male meiosis (GO:0007140)	10.3477897

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	BP1_19119308_ChIP-ChIP_Hs578T_Human	9.90539560
2	IGF1R_20145208_ChIP-Seq_DFB_Human	5.05063303
3	ESR1_20079471_ChIP-ChIP_T-47D_Human	4.12495170
4	VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human	3.28517786
5	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.88103998
6	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	2.55079483
7	EZH2_22144423_ChIP-Seq_EOC_Human	2.17747718
8	AR_21909140_ChIP-Seq_LNCAP_Human	2.17046142
9	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.16026409
10	FUS_26573619_Chip-Seq_HEK293_Human	2.11356455
11	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	11.9878138
12	AHR_22903824_ChIP-Seq_MCF-7_Human	1.95839018
13	ARNT_22903824_ChIP-Seq_MCF-7_Human	1.94099510
14	MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human	1.93304812
15	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.85587674
16	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.77077661
17	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.77077661
18	AR_21572438_ChIP-Seq_LNCaP_Human	1.74284062
19	NANOG_20526341_ChIP-Seq_ESCs_Human	1.69898057
20	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.68608701
21	ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.67458982
22	ER_23166858_ChIP-Seq_MCF-7_Human	1.58420464
23	RAC3_21632823_ChIP-Seq_H3396_Human	1.52348645
24	GBX2_23144817_ChIP-Seq_PC3_Human	1.48290432
25	OCT1_27270436_Chip-Seq_PROSTATE_Human	1.47962041
26	CBP_20019798_ChIP-Seq_JUKART_Human	1.43203440
27	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.43203440
28	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.41762611
29	SMC4_20622854_ChIP-Seq_HELA_Human	1.38030260
30	ERA_21632823_ChIP-Seq_H3396_Human	1.37342520
31	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.35293236
32	WDR5_24793694_ChIP-Seq_LNCAP_Human	1.35113928
33	OCT4_20526341_ChIP-Seq_ESCs_Human	1.33755464
34	SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	1.32765754
35	TP53_18474530_ChIP-ChIP_U2OS_Human	1.31128300
36	BCAT_22108803_ChIP-Seq_LS180_Human	1.31123291
37	PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse	1.26876233
38	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	1.25166840
39	ZNF263_19887448_ChIP-Seq_K562_Human	1.24721514
40	TBL1_22424771_ChIP-Seq_293T_Human	1.24683155
41	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.23139615
42	GATA1_22025678_ChIP-Seq_K562_Human	1.22296885
43	ERG_20517297_ChIP-Seq_VCAP_Human	1.20871347
44	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.19621148
45	MYC_19829295_ChIP-Seq_ESCs_Human	1.18918379
46	SOX2_19030024_ChIP-ChIP_MESCs_Mouse	1.18634218
47	* CTCF_27219007_Chip-Seq_Bcells_Human	1.17796291
48	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.06980933
49	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.06890429
50	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	1.05717465
51	* KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.03580398
52	P53_22127205_ChIP-Seq_FIBROBLAST_Human	1.03134054
53	SPI1_20517297_ChIP-Seq_HL60_Human	1.02787393
54	VDR_22108803_ChIP-Seq_LS180_Human	1.02705563
55	VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human	1.02327573
56	PKCTHETA_26484144_Chip-Seq_BREAST_Human	1.01017250
57	MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human	1.00023983
58	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	0.98227389
59	CTCF_20526341_ChIP-Seq_ESCs_Human	0.97846464
60	* RUNX2_22187159_ChIP-Seq_PCA_Human	0.96333613
61	RXR_22108803_ChIP-Seq_LS180_Human	0.95208632
62	SMAD4_21799915_ChIP-Seq_A2780_Human	0.95205648
63	RBPJ_21746931_ChIP-Seq_IB4-LCL_Human	0.95075248
64	FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	0.94900892
65	P300_19829295_ChIP-Seq_ESCs_Human	0.94159959
66	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	0.90193834
67	TFAP2A_17053090_ChIP-ChIP_MCF-7_Human	0.89217891
68	P300_27268052_Chip-Seq_Bcells_Human	0.88942998
69	SMAD4_21741376_ChIP-Seq_EPCs_Human	0.88827418
70	ELF5_23300383_ChIP-Seq_T47D_Human	0.87791109
71	NANOG_19829295_ChIP-Seq_ESCs_Human	0.87497107
72	SOX2_19829295_ChIP-Seq_ESCs_Human	0.87497107
73	IRF8_21731497_ChIP-ChIP_J774_Mouse	0.87232371
74	P63_20808887_ChIP-Seq_KERATINOCYTES_Human	0.86901978
75	PRDM14_20953172_ChIP-Seq_ESCs_Human	0.86555982
76	RAD21_21589869_ChIP-Seq_MESCs_Mouse	0.86194798
77	EBNA1_20929547_Chip-Seq_RAJI-cells_Human	0.83951001
78	HOXB7_26014856_ChIP-Seq_BT474_Human	0.82981733
79	AR_25329375_ChIP-Seq_VCAP_Human	0.82614166
80	PHF8_20622854_ChIP-Seq_HELA_Human	0.80888184
81	LXR_22292898_ChIP-Seq_THP-1_Human	0.79192827
82	RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human	0.79010276
83	GF1B_26923725_Chip-Seq_HPCs_Mouse	0.78089438
84	P68_20966046_ChIP-Seq_HELA_Human	0.77837493
85	E2F1_17053090_ChIP-ChIP_MCF-7_Human	0.77790152
86	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	0.77389125
87	ESET_19884257_ChIP-Seq_ESCs_Mouse	0.76965371
88	PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse	0.76635164
89	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	0.75904209
90	IRF1_19129219_ChIP-ChIP_H3396_Human	0.74244152
91	TOP2B_26459242_ChIP-Seq_MCF-7_Human	0.73692829
92	PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse	0.73525069
93	CDX2_21074721_ChIP-Seq_CACO-2_Mouse	0.73220965
94	AUTS2_25519132_ChIP-Seq_293T-REX_Human	0.72714703
95	PHF8_20622853_ChIP-Seq_HELA_Human	0.70553944
96	TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human	0.70453886
97	TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human	0.69485237
98	NFYB_21822215_ChIP-Seq_K562_Human	0.69194850
99	SREBP2_21459322_ChIP-Seq_LIVER_Mouse	0.68792900
100	FOXH1_21741376_ChIP-Seq_ESCs_Human	0.68668120

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0005410_abnormal_fertilization	9.16655430
2	MP0003315_abnormal_perineum_morphology	7.51652441
3	MP0008004_abnormal_stomach_pH	6.62627445
4	MP0005360_urolithiasis	4.14987711
5	MP0002160_abnormal_reproductive_system	3.95615883
6	MP0003698_abnormal_male_reproductive	3.23009470
7	MP0005058_abnormal_lysosome_morphology	3.18379457
8	MP0000537_abnormal_urethra_morphology	3.08768850
9	MP0003045_fibrosis	3.04424452
10	MP0001929_abnormal_gametogenesis	2.95639283
11	MP0002132_abnormal_respiratory_system	2.47237764
12	MP0003136_yellow_coat_color	2.42420081
13	MP0005647_abnormal_sex_gland	2.27432964
14	MP0001984_abnormal_olfaction	2.25276267
15	MP0010386_abnormal_urinary_bladder	2.18095530
16	MP0001664_abnormal_digestion	2.12003958
17	MP0010368_abnormal_lymphatic_system	2.01124890
18	MP0005499_abnormal_olfactory_system	1.98247144
19	MP0005394_taste/olfaction_phenotype	1.98247144
20	MP0005389_reproductive_system_phenotype	1.88757972
21	MP0005187_abnormal_penis_morphology	1.84517524
22	MP0002210_abnormal_sex_determination	1.80305572
23	MP0008995_early_reproductive_senescence	1.72557130
24	MP0000538_abnormal_urinary_bladder	1.71785372
25	MP0002161_abnormal_fertility/fecundity	1.69080091
26	MP0001145_abnormal_male_reproductive	1.62591113
27	MP0000465_gastrointestinal_hemorrhage	1.60098451
28	MP0001849_ear_inflammation	1.58703427
29	MP0001188_hyperpigmentation	1.55533644
30	MP0001905_abnormal_dopamine_level	1.48490118
31	MP0009697_abnormal_copulation	1.45363602
32	MP0000653_abnormal_sex_gland	1.43599900
33	MP0006072_abnormal_retinal_apoptosis	1.42028295
34	MP0004272_abnormal_basement_membrane	1.24721785
35	MP0003718_maternal_effect	1.15821510
36	MP0003632_abnormal_nervous_system	1.06670296
37	MP0000343_altered_response_to	1.06634220
38	MP0006036_abnormal_mitochondrial_physio	1.06454171
39	MP0005395_other_phenotype	1.03935223
40	MP0005646_abnormal_pituitary_gland	1.03814242
41	MP0003936_abnormal_reproductive_system	1.03341885
42	MP0001661_extended_life_span	1.02012204
43	MP0001919_abnormal_reproductive_system	0.99802588
44	MP0005409_darkened_coat_color	0.97067191
45	MP0002168_other_aberrant_phenotype	0.93420490
46	MP0002102_abnormal_ear_morphology	0.91325110
47	MP0005248_abnormal_Harderian_gland	0.90541449
48	MP0002127_abnormal_cardiovascular_syste	0.87987568
49	MP0003806_abnormal_nucleotide_metabolis	0.87971112
50	MP0001501_abnormal_sleep_pattern	0.85370696
51	MP0004084_abnormal_cardiac_muscle	0.85355176
52	MP0010234_abnormal_vibrissa_follicle	0.81414276
53	MP0001529_abnormal_vocalization	0.81325835
54	MP0004085_abnormal_heartbeat	0.79298509
55	MP0000470_abnormal_stomach_morphology	0.79013231
56	MP0003631_nervous_system_phenotype	0.77920929
57	MP0005174_abnormal_tail_pigmentation	0.72809825
58	MP0000631_abnormal_neuroendocrine_gland	0.72219364
59	MP0002233_abnormal_nose_morphology	0.71033838
60	MP0008789_abnormal_olfactory_epithelium	0.68798141
61	MP0005253_abnormal_eye_physiology	0.67342704
62	MP0008058_abnormal_DNA_repair	0.66455303
63	MP0002249_abnormal_larynx_morphology	0.66132962
64	MP0000678_abnormal_parathyroid_gland	0.65907043
65	MP0003385_abnormal_body_wall	0.63888753
66	MP0004036_abnormal_muscle_relaxation	0.60294248
67	MP0005595_abnormal_vascular_smooth	0.54044759
68	MP0000747_muscle_weakness	0.53997056
69	MP0001270_distended_abdomen	0.53649889
70	MP0000230_abnormal_systemic_arterial	0.53080374
71	MP0003868_abnormal_feces_composition	0.50328812
72	MP0003633_abnormal_nervous_system	0.49640528
73	MP0000762_abnormal_tongue_morphology	0.49471561
74	MP0002998_abnormal_bone_remodeling	0.49242377
75	MP0005620_abnormal_muscle_contractility	0.48851891
76	MP0009840_abnormal_foam_cell	0.48684300
77	MP0004381_abnormal_hair_follicle	0.48299527
78	MP0002090_abnormal_vision	0.45361738
79	MP0003693_abnormal_embryo_hatching	0.45342088
80	MP0000462_abnormal_digestive_system	0.45177620
81	MP0001756_abnormal_urination	0.45107834
82	MP0003879_abnormal_hair_cell	0.44580951
83	MP0000015_abnormal_ear_pigmentation	0.42551524
84	MP0003938_abnormal_ear_development	0.39936023
85	MP0002638_abnormal_pupillary_reflex	0.38879462
86	MP0002272_abnormal_nervous_system	0.37614428
87	MP0009250_abnormal_appendicular_skeleto	0.36580721
88	MP0005391_vision/eye_phenotype	0.35462992
89	MP0005166_decreased_susceptibility_to	0.34597652
90	MP0000920_abnormal_myelination	0.34559823
91	MP0006035_abnormal_mitochondrial_morpho	0.33980197
92	MP0004782_abnormal_surfactant_physiolog	0.33518892
93	MP0000627_abnormal_mammary_gland	0.32817537
94	MP0002115_abnormal_skeleton_extremities	0.32646689
95	MP0002752_abnormal_somatic_nervous	0.32045084
96	MP0000733_abnormal_muscle_development	0.32011920
97	MP0003635_abnormal_synaptic_transmissio	0.31623932
98	MP0003935_abnormal_craniofacial_develop	0.30678729
99	MP0001764_abnormal_homeostasis	0.28264179
100	MP0003699_abnormal_female_reproductive	0.27893126

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Abnormal sex determination (HP:0012244)	8.44126377
2	Sex reversal (HP:0012245)	8.44126377
3	Hypoplasia of the uterus (HP:0000013)	7.64888361
4	Resting tremor (HP:0002322)	7.63593135
5	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	6.17138605
6	Reduced antithrombin III activity (HP:0001976)	5.90707107
7	Gonadal dysgenesis (HP:0000133)	5.89408551
8	Abnormality of the columella (HP:0009929)	5.87154831
9	Aplasia/hypoplasia of the uterus (HP:0008684)	5.70304752
10	Absent/shortened dynein arms (HP:0200106)	5.33809368
11	Dynein arm defect of respiratory motile cilia (HP:0012255)	5.33809368
12	Abnormal respiratory motile cilium physiology (HP:0012261)	5.29367278
13	Colitis (HP:0002583)	5.24728569
14	Abnormal ciliary motility (HP:0012262)	5.05764332
15	Facial hemangioma (HP:0000329)	4.98548019
16	Male pseudohermaphroditism (HP:0000037)	4.69911285
17	Postural instability (HP:0002172)	4.54856282
18	Germ cell neoplasia (HP:0100728)	4.54640454
19	Infertility (HP:0000789)	4.53389104
20	Ventricular fibrillation (HP:0001663)	4.48809068
21	Thoracic kyphosis (HP:0002942)	4.27083458
22	Thoracolumbar scoliosis (HP:0002944)	4.25158196
23	Cerebellar dysplasia (HP:0007033)	4.23031767
24	Urinary urgency (HP:0000012)	4.12270645
25	Abnormal respiratory motile cilium morphology (HP:0005938)	4.05492366
26	Abnormal respiratory epithelium morphology (HP:0012253)	4.05492366
27	Abnormality of the intrinsic pathway (HP:0010989)	3.76728097
28	Self-mutilation (HP:0000742)	3.67532301
29	Capillary hemangiomas (HP:0005306)	3.42623168
30	Type II lissencephaly (HP:0007260)	3.42545527
31	Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)	3.40939628
32	Abnormality of the lumbar spine (HP:0100712)	3.37307358
33	Inflammation of the large intestine (HP:0002037)	3.33723893
34	Retinal atrophy (HP:0001105)	3.12024901
35	Gastrointestinal inflammation (HP:0004386)	3.10588316
36	Nasal polyposis (HP:0100582)	3.05622144
37	Protruding tongue (HP:0010808)	3.05595752
38	Sensory axonal neuropathy (HP:0003390)	3.05124713
39	Retinal dysplasia (HP:0007973)	3.04272570
40	Rhinitis (HP:0012384)	2.98941427
41	Abnormality of the thoracic spine (HP:0100711)	2.91674249
42	Aplasia/Hypoplasia involving the sinuses (HP:0009120)	2.74197606
43	Abnormality of the frontal sinuses (HP:0002687)	2.69267799
44	Abnormality of the nasal mucosa (HP:0000433)	2.69220342
45	Atonic seizures (HP:0010819)	2.67628033
46	Congenital sensorineural hearing impairment (HP:0008527)	2.58723251
47	Abnormality of male internal genitalia (HP:0000022)	2.55114050
48	Absent thumb (HP:0009777)	2.54240303
49	Unsteady gait (HP:0002317)	2.50676854
50	Occipital encephalocele (HP:0002085)	2.41455869
51	Buphthalmos (HP:0000557)	2.39576278
52	Decreased activity of mitochondrial respiratory chain (HP:0008972)	2.38698969
53	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	2.38698969
54	Chronic bronchitis (HP:0004469)	2.32785456
55	Decreased number of peripheral myelinated nerve fibers (HP:0003380)	2.30425011
56	Abnormality of the ileum (HP:0001549)	2.22826417
57	Anterior segment dysgenesis (HP:0007700)	2.21127654
58	Spinal rigidity (HP:0003306)	2.19805662
59	Inability to walk (HP:0002540)	2.18865689
60	Bronchiectasis (HP:0002110)	2.17208967
61	Prolonged QT interval (HP:0001657)	2.15358146
62	Aplasia/Hypoplasia of the uvula (HP:0010293)	2.15312489
63	Abnormality of long-chain fatty-acid metabolism (HP:0010964)	2.12675582
64	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.10255805
65	Syncope (HP:0001279)	2.10223266
66	Difficulty climbing stairs (HP:0003551)	2.09742360
67	Hypothermia (HP:0002045)	2.07606309
68	Coxa valga (HP:0002673)	2.05085198
69	Facial diplegia (HP:0001349)	2.03758374
70	Flattened epiphyses (HP:0003071)	2.02013007
71	Generalized hypotonia (HP:0001290)	2.01143389
72	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	2.01001985
73	Abnormal protein N-linked glycosylation (HP:0012347)	2.01001985
74	Abnormal protein glycosylation (HP:0012346)	2.01001985
75	Abnormal glycosylation (HP:0012345)	2.01001985
76	Meckel diverticulum (HP:0002245)	2.00802628
77	High anterior hairline (HP:0009890)	1.98109507
78	Polyneuropathy (HP:0001271)	1.93970556
79	Aortic aneurysm (HP:0004942)	1.89117846
80	Centrally nucleated skeletal muscle fibers (HP:0003687)	1.85738701
81	Aplasia cutis congenita (HP:0001057)	1.83324826
82	Chronic sinusitis (HP:0011109)	1.83003742
83	Squamous cell carcinoma (HP:0002860)	1.79277843
84	Depression (HP:0000716)	1.74699005
85	Absent speech (HP:0001344)	1.70443742
86	Abnormality of the preputium (HP:0100587)	1.65616738
87	Clubbing of toes (HP:0100760)	1.64764071
88	High pitched voice (HP:0001620)	1.63605387
89	Tubulointerstitial nephritis (HP:0001970)	1.59433221
90	Congenital glaucoma (HP:0001087)	1.58739897
91	Anxiety (HP:0000739)	1.58560819
92	Exercise-induced myalgia (HP:0003738)	1.57329576
93	Bradykinesia (HP:0002067)	1.56897866
94	Optic nerve hypoplasia (HP:0000609)	1.56585836
95	Median cleft lip (HP:0000161)	1.56041354
96	Atrial fibrillation (HP:0005110)	1.53391578
97	Aplasia/Hypoplasia of the brainstem (HP:0007362)	1.50833456
98	Hypoplasia of the brainstem (HP:0002365)	1.50833456
99	Slender long bone (HP:0003100)	1.48773747
100	Intellectual disability, progressive (HP:0006887)	1.45741160

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	MARK3	6.39755785
2	TLK1	4.26368674
3	ZAK	4.20471731
4	MYLK	3.42618375
5	RPS6KA5	3.01762005
6	NEK2	2.53484270
7	LATS1	2.11444576
8	PINK1	11.9919057
9	STK38	1.61459034
10	MAP2K7	1.33440454
11	STK38L	1.18641835
12	CDK3	1.17056145
13	LATS2	1.12353663
14	MST1R	1.08709651
15	MAP3K9	1.04915899
16	SGK223	1.02168612
17	SGK494	1.02168612
18	ARAF	0.99304468
19	VRK1	0.87033744
20	EIF2AK3	0.82250588
21	CDK14	0.80753956
22	CSNK1A1L	0.79716172
23	PRKCQ	0.79070770
24	CDC42BPA	0.77899114
25	MAPK15	0.77502581
26	DYRK3	0.77161523
27	NME2	0.74518111
28	FRK	0.69655815
29	MAP3K13	0.68078933
30	MELK	0.67850156
31	FGR	0.64885900
32	CSNK1G3	0.63479047
33	PAK1	0.63158872
34	PAK2	0.62790867
35	MAP3K1	0.62440078
36	BMPR1B	0.62121289
37	OBSCN	0.57400212
38	PKN1	0.55491781
39	DAPK3	0.54530618
40	PRKG2	0.51190744
41	MAP3K5	0.49163084
42	CSNK1G1	0.48416256
43	MOS	0.48082593
44	MAP3K10	0.46551060
45	ROCK1	0.44037423
46	IRAK2	0.43081766
47	FGFR2	0.41678203
48	RET	0.41028883
49	RPS6KB1	0.39723997
50	DYRK2	0.39641385
51	ILK	0.39460383
52	CDK8	0.39384392
53	CSNK1G2	0.39290871
54	ATM	0.38690364
55	CDK5	0.37610945
56	EGFR	0.36131055
57	ICK	0.36108968
58	PDPK1	0.35949284
59	CCNB1	0.35855581
60	BRAF	0.35740019
61	EEF2K	0.33578882
62	KSR2	0.32559030
63	MET	0.30446601
64	TGFBR1	0.29898491
65	PBK	0.28703741
66	AKT2	0.28489615
67	TIE1	0.27875749
68	CAMK1	0.27532962
69	RPS6KA4	0.26997036
70	MTOR	0.26667476
71	CLK1	0.25590484
72	AURKB	0.25385751
73	PRKG1	0.24430860
74	PTK2B	0.21936051
75	STK3	0.20743081
76	PLK1	0.20471424
77	AURKA	0.20390157
78	PDK1	0.20011317
79	SGK2	0.19505065
80	RPS6KA1	0.19330482
81	CSNK1A1	0.19050659
82	PRKD3	0.18763002
83	RPS6KA3	0.16686330
84	MAPK12	0.14951818
85	PLK4	0.14717066
86	PKN2	0.13836847
87	STK4	0.11918854
88	MAPK1	0.11451512
89	MINK1	0.10656714
90	GRK6	0.09971903
91	CDK12	0.09596282
92	PIM1	0.09149882
93	ADRBK2	0.07616938
94	SGK3	0.07211402
95	MAP3K8	0.05598250
96	BTK	0.05408899
97	FES	0.04214928
98	GRK1	0.02045752
99	RAF1	0.01495478
100	CSNK2A1	0.00171082

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	* Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	6.55268182
2	Systemic lupus erythematosus_Homo sapiens_hsa05322	4.48100396
3	* Gap junction_Homo sapiens_hsa04540	4.40171199
4	Hedgehog signaling pathway_Homo sapiens_hsa04340	4.01475306
5	Nitrogen metabolism_Homo sapiens_hsa00910	3.64194447
6	Alcoholism_Homo sapiens_hsa05034	3.45927905
7	Arginine biosynthesis_Homo sapiens_hsa00220	3.14915409
8	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	2.69529729
9	* Apoptosis_Homo sapiens_hsa04210	2.46426151
10	Olfactory transduction_Homo sapiens_hsa04740	2.41989367
11	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	2.35983187
12	* Phagosome_Homo sapiens_hsa04145	2.25980172
13	Propanoate metabolism_Homo sapiens_hsa00640	2.25036410
14	Pyruvate metabolism_Homo sapiens_hsa00620	1.91553824
15	Glutathione metabolism_Homo sapiens_hsa00480	1.80411752
16	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.70208177
17	Butanoate metabolism_Homo sapiens_hsa00650	1.64077052
18	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	1.57836398
19	Dorso-ventral axis formation_Homo sapiens_hsa04320	1.56741649
20	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.41112088
21	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.39103755
22	Oocyte meiosis_Homo sapiens_hsa04114	1.19951371
23	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.19678373
24	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	1.18850875
25	Glucagon signaling pathway_Homo sapiens_hsa04922	1.15793469
26	Vascular smooth muscle contraction_Homo sapiens_hsa04270	1.11547516
27	Pentose phosphate pathway_Homo sapiens_hsa00030	1.06142014
28	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	1.05961534
29	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	1.04041939
30	Phenylalanine metabolism_Homo sapiens_hsa00360	0.98903373
31	mRNA surveillance pathway_Homo sapiens_hsa03015	0.96314434
32	Chemical carcinogenesis_Homo sapiens_hsa05204	0.85629626
33	Transcriptional misregulation in cancer_Homo sapiens_hsa05202	0.79794300
34	Basal transcription factors_Homo sapiens_hsa03022	0.78584040
35	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.78095622
36	Taste transduction_Homo sapiens_hsa04742	0.77288133
37	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.75523108
38	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	0.75452539
39	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.75203911
40	PPAR signaling pathway_Homo sapiens_hsa03320	0.74224823
41	Renin secretion_Homo sapiens_hsa04924	0.74128170
42	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.72295961
43	Fanconi anemia pathway_Homo sapiens_hsa03460	0.70476658
44	Circadian rhythm_Homo sapiens_hsa04710	0.66991426
45	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.64771083
46	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532	0.64535830
47	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.62162866
48	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.61552861
49	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.60894835
50	Endometrial cancer_Homo sapiens_hsa05213	0.60603574
51	Purine metabolism_Homo sapiens_hsa00230	0.57998613
52	Tryptophan metabolism_Homo sapiens_hsa00380	0.55945757
53	Viral carcinogenesis_Homo sapiens_hsa05203	0.51259843
54	RNA transport_Homo sapiens_hsa03013	0.49744192
55	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.49020481
56	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	0.48748968
57	Gastric acid secretion_Homo sapiens_hsa04971	0.47596542
58	Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141	0.46557947
59	DNA replication_Homo sapiens_hsa03030	0.46510865
60	Tyrosine metabolism_Homo sapiens_hsa00350	0.45902390
61	Wnt signaling pathway_Homo sapiens_hsa04310	0.44920950
62	Prostate cancer_Homo sapiens_hsa05215	0.39461762
63	Fatty acid degradation_Homo sapiens_hsa00071	0.35031295
64	beta-Alanine metabolism_Homo sapiens_hsa00410	0.34900095
65	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.34795241
66	Longevity regulating pathway - mammal_Homo sapiens_hsa04211	0.34589314
67	Estrogen signaling pathway_Homo sapiens_hsa04915	0.34576458
68	Choline metabolism in cancer_Homo sapiens_hsa05231	0.34119623
69	Calcium signaling pathway_Homo sapiens_hsa04020	0.33255272
70	Long-term potentiation_Homo sapiens_hsa04720	0.32078061
71	Sphingolipid signaling pathway_Homo sapiens_hsa04071	0.31954729
72	T cell receptor signaling pathway_Homo sapiens_hsa04660	0.31056491
73	B cell receptor signaling pathway_Homo sapiens_hsa04662	0.30283437
74	Carbon metabolism_Homo sapiens_hsa01200	0.27782644
75	Melanoma_Homo sapiens_hsa05218	0.27620269
76	Sphingolipid metabolism_Homo sapiens_hsa00600	0.27534551
77	ECM-receptor interaction_Homo sapiens_hsa04512	0.26327026
78	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.25867543
79	Metabolic pathways_Homo sapiens_hsa01100	0.24388389
80	FoxO signaling pathway_Homo sapiens_hsa04068	0.23194624
81	Focal adhesion_Homo sapiens_hsa04510	0.22716278
82	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.21694718
83	MAPK signaling pathway_Homo sapiens_hsa04010	0.21062353
84	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.21037782
85	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	0.21028933
86	Sulfur relay system_Homo sapiens_hsa04122	0.20619569
87	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	0.20186530
88	Longevity regulating pathway - multiple species_Homo sapiens_hsa04213	0.20043740
89	Pyrimidine metabolism_Homo sapiens_hsa00240	0.19963926
90	Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923	0.19803645
91	Circadian entrainment_Homo sapiens_hsa04713	0.19525333
92	RNA degradation_Homo sapiens_hsa03018	0.19360900
93	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.18724439
94	Dilated cardiomyopathy_Homo sapiens_hsa05414	0.17940630
95	VEGF signaling pathway_Homo sapiens_hsa04370	0.16127623
96	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.12851984
97	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.11494997
98	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.10738826
99	Selenocompound metabolism_Homo sapiens_hsa00450	0.09507866
100	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	0.08883491

TUBA3C

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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