ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	sperm motility (GO:0030317)	7.42048741
2	fusion of sperm to egg plasma membrane (GO:0007342)	6.39440360
3	acrosome reaction (GO:0007340)	6.33117468
4	multicellular organism reproduction (GO:0032504)	5.60014540
5	sperm capacitation (GO:0048240)	5.34944646
6	cilium or flagellum-dependent cell motility (GO:0001539)	5.20429695
7	establishment of protein localization to Golgi (GO:0072600)	5.03507952
8	protein targeting to Golgi (GO:0000042)	4.72602892
9	reproduction (GO:0000003)	4.69103363
10	spermatid development (GO:0007286)	4.65750710
11	glomerular visceral epithelial cell development (GO:0072015)	4.62879786
12	response to pheromone (GO:0019236)	4.58183672
13	plasma membrane fusion (GO:0045026)	4.58002897
14	single strand break repair (GO:0000012)	4.56760167
15	microtubule severing (GO:0051013)	4.43302090
16	retrograde transport, vesicle recycling within Golgi (GO:0000301)	4.33511288
17	glomerular epithelial cell development (GO:0072310)	4.17673684
18	sperm-egg recognition (GO:0035036)	4.15702234
19	regulation of Rab GTPase activity (GO:0032313)	4.13802181
20	positive regulation of Rab GTPase activity (GO:0032851)	4.13802181
21	regulation of gene silencing by RNA (GO:0060966)	4.11955788
22	regulation of posttranscriptional gene silencing (GO:0060147)	4.11955788
23	regulation of gene silencing by miRNA (GO:0060964)	4.11955788
24	chromosome condensation (GO:0030261)	4.10848456
25	regulation of hippo signaling (GO:0035330)	4.03327318
26	negative regulation of inclusion body assembly (GO:0090084)	3.86884782
27	DNA packaging (GO:0006323)	3.86809203
28	microtubule depolymerization (GO:0007019)	3.86495182
29	phosphatidylethanolamine biosynthetic process (GO:0006646)	3.83047119
30	axonemal dynein complex assembly (GO:0070286)	3.64510071
31	spermatogenesis (GO:0007283)	3.60797914
32	male gamete generation (GO:0048232)	3.59912480
33	microtubule polymerization or depolymerization (GO:0031109)	3.56647665
34	NAD biosynthetic process (GO:0009435)	3.50486373
35	phosphatidylethanolamine metabolic process (GO:0046337)	3.46569282
36	cell-cell recognition (GO:0009988)	3.45538659
37	single fertilization (GO:0007338)	3.42691514
38	indolalkylamine metabolic process (GO:0006586)	3.42017342
39	negative regulation of mast cell activation (GO:0033004)	3.38618071
40	regulation of chromatin binding (GO:0035561)	3.37608902
41	detection of light stimulus involved in sensory perception (GO:0050962)	3.36587007
42	detection of light stimulus involved in visual perception (GO:0050908)	3.36587007
43	calcium ion-dependent exocytosis (GO:0017156)	3.33311044
44	cellular ketone body metabolic process (GO:0046950)	3.30473910
45	musculoskeletal movement (GO:0050881)	3.29206419
46	multicellular organismal movement (GO:0050879)	3.29206419
47	positive regulation of phosphoprotein phosphatase activity (GO:0032516)	3.28367975
48	gamete generation (GO:0007276)	3.26237285
49	positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)	3.24932067
50	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G	3.24617885
51	protein polyglutamylation (GO:0018095)	3.23336938
52	one-carbon compound transport (GO:0019755)	3.19737409
53	histone H3-K9 methylation (GO:0051567)	3.12817802
54	positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)	3.07386595
55	sexual reproduction (GO:0019953)	3.00369407
56	regulation of activation of Janus kinase activity (GO:0010533)	2.98132837
57	protein localization to Golgi apparatus (GO:0034067)	2.97149447
58	motile cilium assembly (GO:0044458)	2.94138708
59	nephron epithelium morphogenesis (GO:0072088)	2.93534186
60	nephron tubule morphogenesis (GO:0072078)	2.93534186
61	cellular response to pH (GO:0071467)	2.91754649
62	spermatid nucleus differentiation (GO:0007289)	2.88890867
63	cell wall macromolecule metabolic process (GO:0044036)	2.88687272
64	fertilization (GO:0009566)	2.88265220
65	behavioral response to ethanol (GO:0048149)	2.87317910
66	indole-containing compound catabolic process (GO:0042436)	2.86783721
67	indolalkylamine catabolic process (GO:0046218)	2.86783721
68	tryptophan catabolic process (GO:0006569)	2.86783721
69	seminiferous tubule development (GO:0072520)	2.86280923
70	positive regulation of natural killer cell differentiation (GO:0032825)	2.83408859
71	ketone body metabolic process (GO:1902224)	2.80798544
72	cilium movement (GO:0003341)	2.80097955
73	regulation of B cell receptor signaling pathway (GO:0050855)	2.80035158
74	peristalsis (GO:0030432)	2.79422710
75	histone H3-K9 modification (GO:0061647)	2.79323330
76	opioid receptor signaling pathway (GO:0038003)	2.78843066
77	protein K48-linked deubiquitination (GO:0071108)	2.77463699
78	urinary tract smooth muscle contraction (GO:0014848)	2.76061340
79	negative regulation of Rho protein signal transduction (GO:0035024)	2.75836060
80	positive regulation of DNA-templated transcription, initiation (GO:2000144)	2.74575327
81	binding of sperm to zona pellucida (GO:0007339)	2.71667088
82	adult feeding behavior (GO:0008343)	2.71216798
83	membrane depolarization during action potential (GO:0086010)	2.69296966
84	positive regulation of histone acetylation (GO:0035066)	2.66889598
85	termination of G-protein coupled receptor signaling pathway (GO:0038032)	2.66358174
86	cell wall macromolecule catabolic process (GO:0016998)	2.65093406
87	cAMP catabolic process (GO:0006198)	2.64840409
88	nicotinamide nucleotide biosynthetic process (GO:0019359)	2.63792476
89	pyridine nucleotide biosynthetic process (GO:0019363)	2.63792476
90	regulation of sarcomere organization (GO:0060297)	2.63467124
91	chemosensory behavior (GO:0007635)	2.61974923
92	kynurenine metabolic process (GO:0070189)	2.61718230
93	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	2.58380833
94	detection of mechanical stimulus (GO:0050982)	2.56434477
95	multicellular organismal reproductive process (GO:0048609)	2.55557194
96	neuronal action potential (GO:0019228)	2.50578715
97	indole-containing compound metabolic process (GO:0042430)	2.48020895
98	piRNA metabolic process (GO:0034587)	2.46116572
99	regulation of inclusion body assembly (GO:0090083)	2.44399410
100	chromatin silencing (GO:0006342)	2.40834126

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	EZH2_22144423_ChIP-Seq_EOC_Human	3.30419045
2	DROSHA_22980978_ChIP-Seq_HELA_Human	2.74019277
3	AR_21572438_ChIP-Seq_LNCaP_Human	2.50910315
4	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.20916250
5	MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human	2.10168854
6	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.02792587
7	GBX2_23144817_ChIP-Seq_PC3_Human	1.97561195
8	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.81094903
9	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.71052921
10	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.71052921
11	VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human	1.65738392
12	SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	1.64891966
13	STAT6_21828071_ChIP-Seq_BEAS2B_Human	1.60928840
14	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.60557531
15	CBP_20019798_ChIP-Seq_JUKART_Human	1.60557531
16	ARNT_22903824_ChIP-Seq_MCF-7_Human	1.59718453
17	ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.55507388
18	ER_23166858_ChIP-Seq_MCF-7_Human	1.54393237
19	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.49593586
20	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.46066865
21	TAF15_26573619_Chip-Seq_HEK293_Human	1.45700917
22	VDR_22108803_ChIP-Seq_LS180_Human	1.42280504
23	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.41163420
24	AHR_22903824_ChIP-Seq_MCF-7_Human	1.40924596
25	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.40488746
26	STAT3_23295773_ChIP-Seq_U87_Human	1.36077758
27	RAC3_21632823_ChIP-Seq_H3396_Human	1.35023999
28	JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	1.31678556
29	EBNA1_20929547_Chip-Seq_RAJI-cells_Human	1.30329675
30	PPARD_23208498_ChIP-Seq_MDA-MB-231_Human	1.29410076
31	VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human	1.28762542
32	ZNF274_21170338_ChIP-Seq_K562_Hela	1.27775307
33	IGF1R_20145208_ChIP-Seq_DFB_Human	1.23629223
34	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.22490494
35	P300_19829295_ChIP-Seq_ESCs_Human	1.20603429
36	AR_25329375_ChIP-Seq_VCAP_Human	1.19327688
37	ERA_21632823_ChIP-Seq_H3396_Human	1.19123319
38	ZNF217_24962896_ChIP-Seq_MCF-7_Human	1.18970659
39	IRF8_22096565_ChIP-ChIP_GC-B_Human	1.17759519
40	WDR5_24793694_ChIP-Seq_LNCAP_Human	1.16303556
41	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.16056733
42	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.15588935
43	SUZ12_27294783_Chip-Seq_ESCs_Mouse	1.15535841
44	TP53_18474530_ChIP-ChIP_U2OS_Human	1.15344305
45	RUNX_20019798_ChIP-Seq_JUKART_Human	1.15261747
46	OCT1_27270436_Chip-Seq_PROSTATE_Human	1.14612359
47	RXR_22108803_ChIP-Seq_LS180_Human	1.14307327
48	NANOG_20526341_ChIP-Seq_ESCs_Human	1.12949088
49	VDR_24787735_ChIP-Seq_THP-1_Human	1.11001679
50	GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	1.09899359
51	OCT4_20526341_ChIP-Seq_ESCs_Human	1.09854063
52	CJUN_26792858_Chip-Seq_BT549_Human	1.09480368
53	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	1.08964046
54	TP63_22573176_ChIP-Seq_HFKS_Human	1.08830394
55	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.07755398
56	RUNX2_22187159_ChIP-Seq_PCA_Human	1.07314477
57	TCF4_23295773_ChIP-Seq_U87_Human	1.06512496
58	SPI1_23127762_ChIP-Seq_K562_Human	1.05660808
59	CEBPB_22108803_ChIP-Seq_LS180_Human	1.04480809
60	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.04102316
61	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.03220354
62	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.03220036
63	SMAD4_21741376_ChIP-Seq_HESCs_Human	1.02844273
64	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.02520590
65	STAT6_20620947_ChIP-Seq_CD4_POS_T_Human	1.02296519
66	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	1.02153632
67	FUS_26573619_Chip-Seq_HEK293_Human	1.01460135
68	SMAD3_21741376_ChIP-Seq_ESCs_Human	1.01426487
69	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.01303800
70	SMC4_20622854_ChIP-Seq_HELA_Human	1.01275359
71	REST_21632747_ChIP-Seq_MESCs_Mouse	0.99171160
72	MYC_19829295_ChIP-Seq_ESCs_Human	0.98425927
73	SMAD4_21799915_ChIP-Seq_A2780_Human	0.97441752
74	P53_21459846_ChIP-Seq_SAOS-2_Human	0.96486701
75	JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	0.95879108
76	KLF5_20875108_ChIP-Seq_MESCs_Mouse	0.95782234
77	TP63_23658742_ChIP-Seq_EP156T_Human	0.95757569
78	AR_19668381_ChIP-Seq_PC3_Human	0.95435555
79	TAF2_19829295_ChIP-Seq_ESCs_Human	0.95381700
80	TDRD3_21172665_ChIP-Seq_MCF-7_Human	0.95328833
81	OCT4_19829295_ChIP-Seq_ESCs_Human	0.94987913
82	KLF5_25053715_ChIP-Seq_YYC3_Human	0.94607034
83	P63_20808887_ChIP-Seq_KERATINOCYTES_Human	0.94114978
84	CTCF_20526341_ChIP-Seq_ESCs_Human	0.93833414
85	PIAS1_25552417_ChIP-Seq_VCAP_Human	0.93652017
86	FOXH1_21741376_ChIP-Seq_ESCs_Human	0.93426608
87	TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse	0.93287564
88	KDM2B_26808549_Chip-Seq_REH_Human	0.92657695
89	CDX2_19796622_ChIP-Seq_MESCs_Mouse	0.92474000
90	ESR1_20079471_ChIP-ChIP_T-47D_Human	0.92371639
91	GATA1_19941826_ChIP-Seq_K562_Human	0.91884162
92	BCOR_27268052_Chip-Seq_Bcells_Human	0.91671887
93	SOX2_19829295_ChIP-Seq_ESCs_Human	0.91541230
94	NANOG_19829295_ChIP-Seq_ESCs_Human	0.91541230
95	SMRT_27268052_Chip-Seq_Bcells_Human	0.91256978
96	CTCF_27219007_Chip-Seq_Bcells_Human	0.91256453
97	NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human	0.91190892
98	SMAD2/3_21741376_ChIP-Seq_ESCs_Human	0.91021121
99	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.90408984
100	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	0.90402960

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0005410_abnormal_fertilization	6.98140779
2	MP0003878_abnormal_ear_physiology	4.17440246
3	MP0005377_hearing/vestibular/ear_phenot	4.17440246
4	MP0008057_abnormal_DNA_replication	3.98030594
5	MP0009278_abnormal_bone_marrow	3.92557672
6	MP0003950_abnormal_plasma_membrane	2.86546253
7	MP0005670_abnormal_white_adipose	2.84157486
8	MP0003646_muscle_fatigue	2.79537563
9	MP0003698_abnormal_male_reproductive	2.47215450
10	MP0001348_abnormal_lacrimal_gland	2.45727448
11	MP0003195_calcinosis	2.37173141
12	MP0002138_abnormal_hepatobiliary_system	2.22369622
13	MP0000685_abnormal_immune_system	2.12416051
14	MP0003329_amyloid_beta_deposits	1.99272882
15	MP0003879_abnormal_hair_cell	1.96422267
16	MP0001501_abnormal_sleep_pattern	1.93661653
17	MP0003191_abnormal_cellular_cholesterol	1.92857751
18	MP0001929_abnormal_gametogenesis	1.92105135
19	MP0001545_abnormal_hematopoietic_system	1.91967103
20	MP0005397_hematopoietic_system_phenotyp	1.91967103
21	MP0002653_abnormal_ependyma_morphology	1.91370011
22	MP0009840_abnormal_foam_cell	1.89010528
23	MP0005551_abnormal_eye_electrophysiolog	1.74106082
24	MP0003172_abnormal_lysosome_physiology	1.67534802
25	MP0003638_abnormal_response/metabolism_	1.61522626
26	MP0001486_abnormal_startle_reflex	1.57626564
27	MP0001485_abnormal_pinna_reflex	1.54066403
28	MP0005503_abnormal_tendon_morphology	1.53051519
29	MP0003011_delayed_dark_adaptation	1.48138382
30	MP0009053_abnormal_anal_canal	1.39811844
31	MP0005310_abnormal_salivary_gland	1.37177022
32	MP0005451_abnormal_body_composition	1.34888356
33	MP0002735_abnormal_chemical_nociception	1.33590899
34	MP0001968_abnormal_touch/_nociception	1.32182253
35	MP0001790_abnormal_immune_system	1.20505445
36	MP0005387_immune_system_phenotype	1.20505445
37	MP0001963_abnormal_hearing_physiology	1.19060327
38	MP0002161_abnormal_fertility/fecundity	1.18224484
39	MP0004130_abnormal_muscle_cell	1.17311162
40	MP0000604_amyloidosis	1.14516116
41	MP0003868_abnormal_feces_composition	1.14105723
42	MP0005671_abnormal_response_to	1.13961621
43	MP0002229_neurodegeneration	1.13257800
44	MP0004742_abnormal_vestibular_system	1.12806956
45	MP0000470_abnormal_stomach_morphology	1.12665228
46	MP0005360_urolithiasis	1.11805284
47	MP0003045_fibrosis	1.10537166
48	MP0000678_abnormal_parathyroid_gland	1.10261709
49	MP0009046_muscle_twitch	1.08502306
50	MP0001765_abnormal_ion_homeostasis	1.07256983
51	MP0004233_abnormal_muscle_weight	1.05836030
52	MP0002168_other_aberrant_phenotype	1.05185618
53	MP0002876_abnormal_thyroid_physiology	1.02496060
54	MP0000569_abnormal_digit_pigmentation	0.99013723
55	MP0001664_abnormal_digestion	0.97729431
56	MP0002127_abnormal_cardiovascular_syste	0.96880704
57	MP0002733_abnormal_thermal_nociception	0.95912371
58	MP0008961_abnormal_basal_metabolism	0.95823878
59	MP0004264_abnormal_extraembryonic_tissu	0.94405952
60	MP0003880_abnormal_central_pattern	0.93999819
61	MP0002249_abnormal_larynx_morphology	0.93954566
62	MP0003632_abnormal_nervous_system	0.93488287
63	MP0008872_abnormal_physiological_respon	0.88479937
64	MP0003303_peritoneal_inflammation	0.87806633
65	MP0005645_abnormal_hypothalamus_physiol	0.87590724
66	MP0001666_abnormal_nutrient_absorption	0.87550287
67	MP0003183_abnormal_peptide_metabolism	0.87379645
68	MP0003959_abnormal_lean_body	0.84264601
69	MP0002998_abnormal_bone_remodeling	0.82724035
70	MP0001970_abnormal_pain_threshold	0.81851046
71	MP0000026_abnormal_inner_ear	0.81519766
72	MP0005666_abnormal_adipose_tissue	0.79275450
73	MP0005375_adipose_tissue_phenotype	0.78581473
74	MP0010329_abnormal_lipoprotein_level	0.78387561
75	MP0005083_abnormal_biliary_tract	0.77158134
76	MP0002693_abnormal_pancreas_physiology	0.76228919
77	MP0009643_abnormal_urine_homeostasis	0.76105731
78	MP0002210_abnormal_sex_determination	0.75257729
79	MP0002928_abnormal_bile_duct	0.75185852
80	MP0000383_abnormal_hair_follicle	0.74076272
81	MP0003631_nervous_system_phenotype	0.73817062
82	MP0002067_abnormal_sensory_capabilities	0.71727239
83	MP0009764_decreased_sensitivity_to	0.71436624
84	MP0004147_increased_porphyrin_level	0.70513725
85	MP0003136_yellow_coat_color	0.69940282
86	MP0001873_stomach_inflammation	0.68805516
87	MP0005167_abnormal_blood-brain_barrier	0.67429903
88	MP0003763_abnormal_thymus_physiology	0.65347951
89	MP0005266_abnormal_metabolism	0.64751443
90	MP0002572_abnormal_emotion/affect_behav	0.63488822
91	MP0004510_myositis	0.62544365
92	MP0002136_abnormal_kidney_physiology	0.62491720
93	MP0001756_abnormal_urination	0.62466794
94	MP0001800_abnormal_humoral_immune	0.61336279
95	MP0000749_muscle_degeneration	0.61332328
96	MP0000427_abnormal_hair_cycle	0.59429023
97	MP0002933_joint_inflammation	0.58128427
98	MP0001533_abnormal_skeleton_physiology	0.58074999
99	MP0003633_abnormal_nervous_system	0.57019995
100	MP0005395_other_phenotype	0.56936377

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Severe visual impairment (HP:0001141)	5.19854061
2	Attenuation of retinal blood vessels (HP:0007843)	5.03969210
3	Bony spicule pigmentary retinopathy (HP:0007737)	4.85860889
4	Parkinsonism with favorable response to dopaminergic medication (HP:0002548)	4.09047600
5	Hyperkalemia (HP:0002153)	4.07645191
6	Genetic anticipation (HP:0003743)	3.89347513
7	Dynein arm defect of respiratory motile cilia (HP:0012255)	3.76560333
8	Absent/shortened dynein arms (HP:0200106)	3.76560333
9	Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)	3.57950110
10	Nasal polyposis (HP:0100582)	3.29563088
11	Ileus (HP:0002595)	3.29177142
12	Amelogenesis imperfecta (HP:0000705)	3.24513633
13	Abnormal ciliary motility (HP:0012262)	3.22128615
14	Increased neuronal autofluorescent lipopigment (HP:0002074)	3.19475681
15	Chronic hepatic failure (HP:0100626)	3.10276261
16	Tubular atrophy (HP:0000092)	3.09601020
17	Cone-rod dystrophy (HP:0000548)	3.07661071
18	Type II lissencephaly (HP:0007260)	3.03978850
19	Asymmetric septal hypertrophy (HP:0001670)	3.01884497
20	Progressive cerebellar ataxia (HP:0002073)	3.01470790
21	Gastrointestinal infarctions (HP:0005244)	3.00876960
22	Congenital stationary night blindness (HP:0007642)	2.96282510
23	Pancreatic cysts (HP:0001737)	2.87938639
24	Cerebellar dysplasia (HP:0007033)	2.85860379
25	Abnormality of the nasal mucosa (HP:0000433)	2.81669197
26	Hypoplastic ischia (HP:0003175)	2.81393309
27	Decreased circulating renin level (HP:0003351)	2.80349877
28	Cystic liver disease (HP:0006706)	2.80238373
29	Epiphyseal dysplasia (HP:0002656)	2.79493202
30	Increased cerebral lipofuscin (HP:0011813)	2.73538474
31	Pancreatic fibrosis (HP:0100732)	2.71207329
32	Abnormality of macular pigmentation (HP:0008002)	2.70556518
33	Abnormality of the neuromuscular junction (HP:0003398)	2.68895461
34	Fatigable weakness (HP:0003473)	2.68895461
35	Abnormal respiratory motile cilium morphology (HP:0005938)	2.68621188
36	Abnormal respiratory epithelium morphology (HP:0012253)	2.68621188
37	Aplasia/Hypoplasia of the pubic bone (HP:0009104)	2.67226250
38	Abnormal respiratory motile cilium physiology (HP:0012261)	2.61444944
39	Potter facies (HP:0002009)	2.52965078
40	Facial shape deformation (HP:0011334)	2.52965078
41	Abnormal drinking behavior (HP:0030082)	2.50426753
42	Polydipsia (HP:0001959)	2.50426753
43	Vacuolated lymphocytes (HP:0001922)	2.49835583
44	Nephronophthisis (HP:0000090)	2.48345863
45	Congenital sensorineural hearing impairment (HP:0008527)	2.46047295
46	Abnormality of the ischium (HP:0003174)	2.45977890
47	Abnormality of dental color (HP:0011073)	2.42351533
48	True hermaphroditism (HP:0010459)	2.40947646
49	Abnormal urine output (HP:0012590)	2.38056435
50	Portal hypertension (HP:0001409)	2.36769002
51	Central scotoma (HP:0000603)	2.36216278
52	Hyponatremia (HP:0002902)	2.34548287
53	Scotoma (HP:0000575)	2.30480809
54	Optic nerve hypoplasia (HP:0000609)	2.27739329
55	Diplopia (HP:0000651)	2.27111391
56	Abnormality of binocular vision (HP:0011514)	2.27111391
57	Polyuria (HP:0000103)	2.23950994
58	Abnormality of potassium homeostasis (HP:0011042)	2.20417428
59	Global brain atrophy (HP:0002283)	2.20189819
60	Abolished electroretinogram (ERG) (HP:0000550)	2.19053442
61	Abnormality of the renal medulla (HP:0100957)	2.19008516
62	Abnormality of the hepatic vasculature (HP:0006707)	2.18312574
63	Truncal obesity (HP:0001956)	2.18287344
64	Stage 5 chronic kidney disease (HP:0003774)	2.15631590
65	Chorioretinal atrophy (HP:0000533)	2.13585918
66	Postural instability (HP:0002172)	2.13412527
67	Clumsiness (HP:0002312)	2.12842391
68	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	2.11739749
69	Abnormality of midbrain morphology (HP:0002418)	2.07170242
70	Molar tooth sign on MRI (HP:0002419)	2.07170242
71	Increased corneal curvature (HP:0100692)	2.05569011
72	Keratoconus (HP:0000563)	2.05569011
73	Easy fatigability (HP:0003388)	2.02577676
74	Esophageal neoplasm (HP:0100751)	2.00983344
75	Neoplasm of head and neck (HP:0012288)	2.00983344
76	Bell-shaped thorax (HP:0001591)	2.00129793
77	Enlarged epiphyses (HP:0010580)	1.99651723
78	Mesangial abnormality (HP:0001966)	1.97829744
79	Abnormality of renal excretion (HP:0011036)	1.91781799
80	Bronchomalacia (HP:0002780)	1.90358440
81	Thyroid-stimulating hormone excess (HP:0002925)	1.87348812
82	Generalized aminoaciduria (HP:0002909)	1.87347386
83	Tubulointerstitial nephritis (HP:0001970)	1.86480849
84	Macular degeneration (HP:0000608)	1.85307109
85	Azoospermia (HP:0000027)	1.85133998
86	Sclerocornea (HP:0000647)	1.84032085
87	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	1.83616797
88	Abnormality of the pubic bones (HP:0003172)	1.81648814
89	Gaze-evoked nystagmus (HP:0000640)	1.80244112
90	Impaired smooth pursuit (HP:0007772)	1.78079868
91	Abnormality of sodium homeostasis (HP:0010931)	1.76546115
92	Oligodontia (HP:0000677)	1.75827908
93	Abnormal albumin level (HP:0012116)	1.75456459
94	Hypoalbuminemia (HP:0003073)	1.75456459
95	Hypochromic anemia (HP:0001931)	1.74666613
96	Tracheomalacia (HP:0002779)	1.74180151
97	Peritonitis (HP:0002586)	1.73187973
98	Progressive visual loss (HP:0000529)	1.73154591
99	Abnormal rod and cone electroretinograms (HP:0008323)	1.72505970
100	Stereotypic behavior (HP:0000733)	1.68464582

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	MUSK	5.41195065
2	INSRR	5.22669416
3	FRK	3.33516137
4	PLK4	3.32511422
5	CDK12	3.10959117
6	DDR2	2.94178290
7	ADRBK2	2.90348491
8	STK38	2.49715672
9	PTK2B	2.16052486
10	STK38L	2.11891531
11	BRD4	2.10749783
12	BMPR1B	2.06460846
13	LATS1	2.04184006
14	PIK3CG	1.73772664
15	GRK1	1.68835580
16	PRKD3	1.62609416
17	PDK1	1.62546618
18	SIK2	1.61871606
19	PDPK1	1.42687630
20	MST1R	1.41954508
21	PKN2	1.37097903
22	TYRO3	1.32069598
23	MAP3K7	1.24917842
24	CAMK1G	1.24893970
25	BTK	1.22509358
26	WNK1	1.19534656
27	CASK	1.17862088
28	RPS6KA2	1.10354951
29	TXK	1.03470484
30	MAPK15	1.02397508
31	DYRK1B	1.01276644
32	JAK3	0.96099185
33	RPS6KA6	0.94461890
34	CAMK1D	0.92757712
35	FGFR3	0.92019711
36	ADRBK1	0.91418184
37	SYK	0.90943886
38	PLK2	0.88443405
39	HCK	0.88187089
40	PRKAA2	0.87611030
41	TESK1	0.86669542
42	TRPM7	0.86059824
43	WNK4	0.85059809
44	PNCK	0.80437989
45	NTRK3	0.79913926
46	NEK2	0.74483825
47	KSR2	0.72996166
48	RPS6KC1	0.72833318
49	RPS6KL1	0.72833318
50	ACVR1B	0.72417014
51	MAP3K2	0.70446656
52	ERN1	0.68172386
53	MAP4K1	0.66744617
54	BLK	0.66213888
55	FLT3	0.65577978
56	DAPK2	0.63057452
57	MAP4K2	0.62870433
58	IRAK3	0.61596543
59	IKBKB	0.61397183
60	CDK8	0.58205902
61	PRKG2	0.54439524
62	CSF1R	0.54022174
63	NME1	0.52818954
64	PRKCG	0.50951044
65	MAPK7	0.50815456
66	CSK	0.47660245
67	MAP3K1	0.47536283
68	JAK2	0.46545128
69	TNK2	0.45902222
70	TGFBR2	0.45115360
71	LATS2	0.44577412
72	AKT3	0.44161989
73	PRKG1	0.44012699
74	EPHA2	0.43692986
75	MAPK13	0.42729836
76	IRAK1	0.42341305
77	MAPK1	0.42121070
78	MAP2K1	0.41337838
79	RET	0.41187690
80	PDGFRB	0.41056108
81	PRKCE	0.40269287
82	ITK	0.40165058
83	TEC	0.39919199
84	PKN1	0.39552364
85	CDK9	0.39543725
86	CDK4	0.38249677
87	PRKCH	0.36513629
88	PRKACB	0.36333192
89	LCK	0.35009493
90	CAMK1	0.34908316
91	OXSR1	0.34404716
92	MAPK11	0.34263064
93	MAP2K2	0.34185771
94	MTOR	0.34104125
95	BMX	0.34099898
96	TRIB3	0.32462629
97	PRKCB	0.32200244
98	DYRK1A	0.31551357
99	GSK3B	0.31323500
100	CDK7	0.30216688

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Fatty acid biosynthesis_Homo sapiens_hsa00061	2.88669065
2	Nitrogen metabolism_Homo sapiens_hsa00910	2.81297885
3	Olfactory transduction_Homo sapiens_hsa04740	2.29964334
4	ABC transporters_Homo sapiens_hsa02010	2.20707427
5	Butanoate metabolism_Homo sapiens_hsa00650	1.97775012
6	Taste transduction_Homo sapiens_hsa04742	1.83132710
7	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.75019954
8	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.71579577
9	Glycerophospholipid metabolism_Homo sapiens_hsa00564	1.69857834
10	Dorso-ventral axis formation_Homo sapiens_hsa04320	1.64915509
11	Phototransduction_Homo sapiens_hsa04744	1.62701979
12	Glycerolipid metabolism_Homo sapiens_hsa00561	1.62447667
13	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	1.55683122
14	Linoleic acid metabolism_Homo sapiens_hsa00591	1.47420715
15	Morphine addiction_Homo sapiens_hsa05032	1.43682280
16	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.43487061
17	Tryptophan metabolism_Homo sapiens_hsa00380	1.39225426
18	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.32817734
19	Graft-versus-host disease_Homo sapiens_hsa05332	1.18055713
20	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.17887977
21	Ether lipid metabolism_Homo sapiens_hsa00565	1.13219496
22	Glycosaminoglycan degradation_Homo sapiens_hsa00531	1.13156651
23	Calcium signaling pathway_Homo sapiens_hsa04020	1.12788816
24	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.10774315
25	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.09691777
26	Vascular smooth muscle contraction_Homo sapiens_hsa04270	1.07681909
27	Glutamatergic synapse_Homo sapiens_hsa04724	1.06683674
28	ECM-receptor interaction_Homo sapiens_hsa04512	1.06151651
29	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532	1.03276627
30	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.02632011
31	Platelet activation_Homo sapiens_hsa04611	1.00107442
32	Complement and coagulation cascades_Homo sapiens_hsa04610	0.96244977
33	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.95509081
34	Autoimmune thyroid disease_Homo sapiens_hsa05320	0.94179879
35	Staphylococcus aureus infection_Homo sapiens_hsa05150	0.93908218
36	Circadian entrainment_Homo sapiens_hsa04713	0.93469548
37	Serotonergic synapse_Homo sapiens_hsa04726	0.92305637
38	Allograft rejection_Homo sapiens_hsa05330	0.91722458
39	Nicotine addiction_Homo sapiens_hsa05033	0.89082125
40	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.88831599
41	Sphingolipid metabolism_Homo sapiens_hsa00600	0.88575414
42	Antigen processing and presentation_Homo sapiens_hsa04612	0.88055381
43	Bile secretion_Homo sapiens_hsa04976	0.87041017
44	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	0.85500479
45	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.83658087
46	Phospholipase D signaling pathway_Homo sapiens_hsa04072	0.83447506
47	Retinol metabolism_Homo sapiens_hsa00830	0.82921665
48	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.80524227
49	PPAR signaling pathway_Homo sapiens_hsa03320	0.79700726
50	cAMP signaling pathway_Homo sapiens_hsa04024	0.78950066
51	Adipocytokine signaling pathway_Homo sapiens_hsa04920	0.77888839
52	Fatty acid degradation_Homo sapiens_hsa00071	0.77353142
53	Chemical carcinogenesis_Homo sapiens_hsa05204	0.77353089
54	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.76436124
55	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.73305641
56	Salivary secretion_Homo sapiens_hsa04970	0.72494568
57	Estrogen signaling pathway_Homo sapiens_hsa04915	0.71972735
58	T cell receptor signaling pathway_Homo sapiens_hsa04660	0.69747224
59	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.69616302
60	Histidine metabolism_Homo sapiens_hsa00340	0.68311209
61	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.66732375
62	Type II diabetes mellitus_Homo sapiens_hsa04930	0.66072536
63	MAPK signaling pathway_Homo sapiens_hsa04010	0.65299096
64	Inositol phosphate metabolism_Homo sapiens_hsa00562	0.65111949
65	Protein digestion and absorption_Homo sapiens_hsa04974	0.63967051
66	Hematopoietic cell lineage_Homo sapiens_hsa04640	0.63817276
67	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.61470944
68	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.60595410
69	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.59983819
70	Fat digestion and absorption_Homo sapiens_hsa04975	0.59497608
71	Gastric acid secretion_Homo sapiens_hsa04971	0.58512659
72	Natural killer cell mediated cytotoxicity_Homo sapiens_hsa04650	0.58325155
73	Other glycan degradation_Homo sapiens_hsa00511	0.57741144
74	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.56405002
75	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	0.56080827
76	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.55291555
77	Fc epsilon RI signaling pathway_Homo sapiens_hsa04664	0.54998730
78	Malaria_Homo sapiens_hsa05144	0.54705224
79	Cholinergic synapse_Homo sapiens_hsa04725	0.53943709
80	Lysosome_Homo sapiens_hsa04142	0.53910565
81	Pancreatic secretion_Homo sapiens_hsa04972	0.53408698
82	B cell receptor signaling pathway_Homo sapiens_hsa04662	0.53396160
83	Toxoplasmosis_Homo sapiens_hsa05145	0.52559618
84	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	0.51601265
85	Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750	0.49945013
86	Jak-STAT signaling pathway_Homo sapiens_hsa04630	0.49718727
87	GABAergic synapse_Homo sapiens_hsa04727	0.49245568
88	Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666	0.48187018
89	Basal cell carcinoma_Homo sapiens_hsa05217	0.48027607
90	Insulin secretion_Homo sapiens_hsa04911	0.47600142
91	Osteoclast differentiation_Homo sapiens_hsa04380	0.47170572
92	Type I diabetes mellitus_Homo sapiens_hsa04940	0.45818642
93	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.45540465
94	Dilated cardiomyopathy_Homo sapiens_hsa05414	0.44871417
95	NOD-like receptor signaling pathway_Homo sapiens_hsa04621	0.44343262
96	Choline metabolism in cancer_Homo sapiens_hsa05231	0.44223309
97	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.43825005
98	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.43228334
99	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.43213847
100	Insulin resistance_Homo sapiens_hsa04931	0.42294438

TBC1D3P5

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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