ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	left/right pattern formation (GO:0060972)	9.04878410
2	regulation of cilium movement (GO:0003352)	8.16456165
3	ventricular system development (GO:0021591)	7.62860274
4	intraciliary transport (GO:0042073)	6.98265095
5	cilium organization (GO:0044782)	6.45524036
6	left/right axis specification (GO:0070986)	6.41542185
7	cilium assembly (GO:0042384)	6.23600592
8	microtubule bundle formation (GO:0001578)	6.19648402
9	centriole assembly (GO:0098534)	5.77544351
10	sperm capacitation (GO:0048240)	5.73231963
11	sperm motility (GO:0030317)	5.18168971
12	protein localization to cilium (GO:0061512)	5.17886703
13	primary alcohol catabolic process (GO:0034310)	5.11841592
14	microtubule-based movement (GO:0007018)	5.11578478
15	cilium morphogenesis (GO:0060271)	5.01166000
16	cellular component assembly involved in morphogenesis (GO:0010927)	4.95116497
17	regulation of microtubule-based movement (GO:0060632)	4.85043416
18	nucleoside diphosphate phosphorylation (GO:0006165)	4.80715883
19	vitamin transmembrane transport (GO:0035461)	4.79411340
20	ethanol metabolic process (GO:0006067)	4.47860654
21	microtubule depolymerization (GO:0007019)	4.46463450
22	centriole replication (GO:0007099)	4.43981168
23	cell projection assembly (GO:0030031)	4.35013450
24	lung epithelium development (GO:0060428)	4.25870878
25	glomerular epithelial cell development (GO:0072310)	4.16563680
26	diterpenoid biosynthetic process (GO:0016102)	4.16360629
27	one-carbon compound transport (GO:0019755)	4.11059185
28	negative regulation of T cell differentiation in thymus (GO:0033085)	4.10119121
29	lateral ventricle development (GO:0021670)	4.00810849
30	establishment of apical/basal cell polarity (GO:0035089)	3.89633018
31	microtubule polymerization or depolymerization (GO:0031109)	3.89584352
32	negative regulation of inclusion body assembly (GO:0090084)	3.83080684
33	tolerance induction (GO:0002507)	3.78603517
34	pyrimidine-containing compound transmembrane transport (GO:0072531)	3.78584602
35	regulation of interleukin-5 production (GO:0032674)	3.77029007
36	establishment or maintenance of monopolar cell polarity (GO:0061339)	3.69810725
37	establishment of monopolar cell polarity (GO:0061162)	3.69810725
38	determination of left/right symmetry (GO:0007368)	3.67295968
39	response to xenobiotic stimulus (GO:0009410)	3.59319655
40	determination of bilateral symmetry (GO:0009855)	3.49454639
41	smoothened signaling pathway (GO:0007224)	3.46625702
42	specification of symmetry (GO:0009799)	3.43708726
43	negative regulation of immunoglobulin mediated immune response (GO:0002890)	3.42466725
44	negative regulation of B cell mediated immunity (GO:0002713)	3.42466725
45	ethanol oxidation (GO:0006069)	3.31588808
46	regulation of interleukin-13 production (GO:0032656)	3.29194872
47	cytoplasmic microtubule organization (GO:0031122)	3.24029955
48	establishment of tissue polarity (GO:0007164)	3.23259123
49	establishment of planar polarity (GO:0001736)	3.23259123
50	spermatid development (GO:0007286)	3.19697334
51	negative regulation of humoral immune response (GO:0002921)	3.16511040
52	glutathione derivative biosynthetic process (GO:1901687)	3.14367054
53	glutathione derivative metabolic process (GO:1901685)	3.14367054
54	protein polyglutamylation (GO:0018095)	3.11234091
55	retinoic acid metabolic process (GO:0042573)	3.08480192
56	nonmotile primary cilium assembly (GO:0035058)	3.07086611
57	GTP biosynthetic process (GO:0006183)	3.04933942
58	axonemal dynein complex assembly (GO:0070286)	22.0147560
59	microtubule-based process (GO:0007017)	2.97649430
60	positive regulation of tolerance induction (GO:0002645)	2.97543976
61	retinol metabolic process (GO:0042572)	2.95565000
62	negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	2.94282447
63	exogenous drug catabolic process (GO:0042738)	2.90724157
64	regulation of germinal center formation (GO:0002634)	2.87708084
65	terpenoid biosynthetic process (GO:0016114)	2.85200671
66	positive regulation of smoothened signaling pathway (GO:0045880)	2.82912122
67	retinal rod cell development (GO:0046548)	2.79697279
68	primary alcohol metabolic process (GO:0034308)	2.77169054
69	organelle assembly (GO:0070925)	2.77152468
70	nucleotide phosphorylation (GO:0046939)	2.71480572
71	acrosome reaction (GO:0007340)	2.68288506
72	regulation of inclusion body assembly (GO:0090083)	2.64058726
73	aldehyde catabolic process (GO:0046185)	2.60008599
74	phenol-containing compound catabolic process (GO:0019336)	2.56956566
75	UTP biosynthetic process (GO:0006228)	2.56157343
76	phosphatidylethanolamine biosynthetic process (GO:0006646)	2.55995127
77	regulation of autophagic vacuole assembly (GO:2000785)	2.51946706
78	single fertilization (GO:0007338)	2.49035165
79	phosphatidylcholine biosynthetic process (GO:0006656)	2.48430609
80	O-glycan processing (GO:0016266)	2.46564315
81	phosphatidylethanolamine metabolic process (GO:0046337)	2.45407898
82	carnitine metabolic process (GO:0009437)	2.44608582
83	lateral sprouting from an epithelium (GO:0060601)	2.42667426
84	nucleoside diphosphate metabolic process (GO:0009132)	2.42040862
85	spinal cord motor neuron differentiation (GO:0021522)	2.41987987
86	heart looping (GO:0001947)	2.40072687
87	excretion (GO:0007588)	2.38368001
88	microtubule severing (GO:0051013)	2.34065452
89	regulation of smoothened signaling pathway (GO:0008589)	2.33935970
90	hydrogen peroxide biosynthetic process (GO:0050665)	2.33866673
91	phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)	2.33761788
92	photoreceptor cell maintenance (GO:0045494)	2.31899683
93	regulation of collateral sprouting (GO:0048670)	2.30551591
94	UTP metabolic process (GO:0046051)	2.29136321
95	cilium or flagellum-dependent cell motility (GO:0001539)	17.2059723
96	cilium movement (GO:0003341)	16.8771942
97	epithelial cilium movement (GO:0003351)	15.6624796
98	motile cilium assembly (GO:0044458)	14.9903940
99	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	14.2169137
100	axoneme assembly (GO:0035082)	10.2198827

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	4.92333889
2	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	3.79801651
3	DROSHA_22980978_ChIP-Seq_HELA_Human	3.16016431
4	FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	2.33084055
5	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.99656242
6	STAT1_20625510_ChIP-Seq_HELA_Human	1.74909981
7	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.73645641
8	VDR_22108803_ChIP-Seq_LS180_Human	1.72339992
9	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.67080026
10	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.65837283
11	AHR_22903824_ChIP-Seq_MCF-7_Human	1.65614377
12	ARNT_22903824_ChIP-Seq_MCF-7_Human	1.63515793
13	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.61772296
14	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.61772296
15	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.55001687
16	TRIM28_21343339_ChIP-Seq_HEK293_Human	1.54734708
17	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.51365881
18	SMC4_20622854_ChIP-Seq_HELA_Human	1.50740004
19	FOXM1_26456572_ChIP-Seq_MCF-7_Human	1.49237348
20	RUNX1_27514584_Chip-Seq_MCF-7_Human	1.44955113
21	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.43443532
22	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.43424384
23	TDRD3_21172665_ChIP-Seq_MCF-7_Human	1.40885395
24	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.40671512
25	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.40583804
26	TP53_18474530_ChIP-ChIP_U2OS_Human	1.39396105
27	TP63_23658742_ChIP-Seq_EP156T_Human	1.38938195
28	SMAD4_21799915_ChIP-Seq_A2780_Human	1.38880666
29	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.38737414
30	ETV1_20927104_ChIP-Seq_GIST48_Human	1.37750884
31	SIN3B_21632747_ChIP-Seq_MESCs_Mouse	1.37091814
32	PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse	1.36394748
33	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	1.36172732
34	PHF8_20622853_ChIP-Seq_HELA_Human	1.35968817
35	SMRT_27268052_Chip-Seq_Bcells_Human	1.33195174
36	TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse	1.32241515
37	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.31687954
38	TP63_22573176_ChIP-Seq_HFKS_Human	1.30204943
39	HNFA_21074721_ChIP-Seq_CACO-2_Human	1.29709091
40	CDX2_21074721_ChIP-Seq_CACO-2_Mouse	1.29684878
41	TFAP2C_20629094_ChIP-Seq_MCF-7_Human	1.28259793
42	FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human	1.27329549
43	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.26781908
44	ELF1_20517297_ChIP-Seq_JURKAT_Human	1.26545084
45	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.25262686
46	FUS_26573619_Chip-Seq_HEK293_Human	1.24780726
47	PCGF4_22325352_ChIP-Seq_293T-Rex_Human	1.24516853
48	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	1.23960555
49	MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human	1.23319893
50	RAD21_21589869_ChIP-Seq_MESCs_Mouse	1.22386147
51	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.20782837
52	TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.20536494
53	WDR5_24793694_ChIP-Seq_LNCAP_Human	1.20405112
54	ZNF217_24962896_ChIP-Seq_MCF-7_Human	1.19273410
55	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.19179125
56	TBL1_22424771_ChIP-Seq_293T_Human	1.18180173
57	YY1_22570637_ChIP-Seq_MALME-3M_Human	1.17122507
58	* CTCF_27219007_Chip-Seq_Bcells_Human	1.16168899
59	RBPJ_21746931_ChIP-Seq_IB4_Human	1.16042557
60	GATA1_26923725_Chip-Seq_HPCs_Mouse	1.15738713
61	SIN3A_21632747_ChIP-Seq_MESCs_Mouse	1.15404543
62	SMAD2/3_21741376_ChIP-Seq_ESCs_Human	1.14922522
63	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.14815359
64	CBP_20019798_ChIP-Seq_JUKART_Human	1.14815359
65	EBNA1_20929547_Chip-Seq_RAJI-cells_Human	1.14802494
66	KLF5_25053715_ChIP-Seq_YYC3_Human	1.14512599
67	CBX2_22325352_ChIP-Seq_293T-Rex_Human	1.13413731
68	ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.12412966
69	CTCF_20526341_ChIP-Seq_ESCs_Human	1.11574904
70	AR_21572438_ChIP-Seq_LNCaP_Human	1.11502819
71	NFYA_21822215_ChIP-Seq_K562_Human	1.10650563
72	STAT3_23295773_ChIP-Seq_U87_Human	1.10394157
73	NFYB_21822215_ChIP-Seq_K562_Human	1.09480451
74	AR_21915096_ChIP-Seq_LNCaP-1F5_Human	1.09202791
75	CTNNB1_20460455_ChIP-Seq_HCT116_Human	1.08638260
76	ERG_20517297_ChIP-Seq_VCAP_Human	1.07473631
77	GATA6_21074721_ChIP-Seq_CACO-2_Human	1.07401590
78	ER_23166858_ChIP-Seq_MCF-7_Human	1.06099253
79	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.05989822
80	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.05989822
81	PHF8_20622854_ChIP-Seq_HELA_Human	1.05950952
82	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.05709033
83	TCF4_22108803_ChIP-Seq_LS180_Human	1.05385078
84	GATA6_21074721_ChIP-Seq_CACO-2_Mouse	1.02660898
85	REST_21632747_ChIP-Seq_MESCs_Mouse	1.01715217
86	FOXA1_25552417_ChIP-Seq_VCAP_Human	1.01437533
87	RBPJ_21746931_ChIP-Seq_IB4-LCL_Human	1.01132468
88	SUZ12_27294783_Chip-Seq_ESCs_Mouse	1.00667481
89	SOX2_21211035_ChIP-Seq_LN229_Human	1.00019021
90	CEBPB_22108803_ChIP-Seq_LS180_Human	0.99998532
91	MYC_19829295_ChIP-Seq_ESCs_Human	0.98899648
92	RUNX2_22187159_ChIP-Seq_PCA_Human	0.98288189
93	SMAD4_21741376_ChIP-Seq_EPCs_Human	0.97842595
94	P68_20966046_ChIP-Seq_HELA_Human	0.97632856
95	E2F1_20622854_ChIP-Seq_HELA_Human	0.97326890
96	P300_27268052_Chip-Seq_Bcells_Human	0.96957719
97	P63_26484246_Chip-Seq_KERATINOCYTES_Human	0.96918701
98	SUZ12_20075857_ChIP-Seq_MESCs_Mouse	0.95293357
99	SOX9_24532713_ChIP-Seq_HFSC_Mouse	0.95116896
100	SOX2_27498859_Chip-Seq_STOMACH_Mouse	0.93952459

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002653_abnormal_ependyma_morphology	6.59986547
2	MP0008875_abnormal_xenobiotic_pharmacok	4.73080566
3	MP0000566_synostosis	4.56313722
4	MP0001984_abnormal_olfaction	4.23944092
5	MP0002132_abnormal_respiratory_system	4.16514049
6	MP0004133_heterotaxia	3.55660964
7	MP0003878_abnormal_ear_physiology	3.25288098
8	MP0005377_hearing/vestibular/ear_phenot	3.25288098
9	MP0003136_yellow_coat_color	3.24360058
10	MP0008789_abnormal_olfactory_epithelium	2.84213567
11	MP0005623_abnormal_meninges_morphology	2.83724525
12	MP0002277_abnormal_respiratory_mucosa	2.76641444
13	MP0004043_abnormal_pH_regulation	2.74433870
14	MP0002282_abnormal_trachea_morphology	2.51656070
15	MP0009780_abnormal_chondrocyte_physiolo	2.41482313
16	MP0004019_abnormal_vitamin_homeostasis	2.16783945
17	MP0005499_abnormal_olfactory_system	2.01890091
18	MP0005394_taste/olfaction_phenotype	2.01890091
19	MP0005410_abnormal_fertilization	1.99616039
20	MP0002160_abnormal_reproductive_system	1.76868340
21	MP0002734_abnormal_mechanical_nocicepti	1.70571789
22	MP0000383_abnormal_hair_follicle	1.69795360
23	MP0001485_abnormal_pinna_reflex	1.69761697
24	MP0003698_abnormal_male_reproductive	1.58946989
25	MP0002638_abnormal_pupillary_reflex	1.58330226
26	MP0002909_abnormal_adrenal_gland	1.45562420
27	MP0005083_abnormal_biliary_tract	1.44180906
28	MP0001765_abnormal_ion_homeostasis	1.42211167
29	MP0001929_abnormal_gametogenesis	1.39228356
30	MP0003283_abnormal_digestive_organ	1.37545742
31	MP0003806_abnormal_nucleotide_metabolis	1.37455444
32	MP0009046_muscle_twitch	1.35526589
33	MP0002249_abnormal_larynx_morphology	1.34370820
34	MP0009379_abnormal_foot_pigmentation	1.31581122
35	MP0010030_abnormal_orbit_morphology	1.28887612
36	MP0000026_abnormal_inner_ear	1.26077466
37	MP0002822_catalepsy	1.23954581
38	MP0002928_abnormal_bile_duct	1.15375092
39	MP0010678_abnormal_skin_adnexa	1.15177691
40	MP0005551_abnormal_eye_electrophysiolog	1.09184088
41	MP0005253_abnormal_eye_physiology	1.07867304
42	MP0002168_other_aberrant_phenotype	1.06330468
43	MP0002233_abnormal_nose_morphology	1.05352890
44	MP0000678_abnormal_parathyroid_gland	1.02058341
45	MP0002735_abnormal_chemical_nociception	1.01662388
46	MP0001486_abnormal_startle_reflex	0.97076298
47	MP0001293_anophthalmia	0.97002387
48	MP0001346_abnormal_lacrimal_gland	0.95401790
49	MP0003656_abnormal_erythrocyte_physiolo	0.95014139
50	MP0003879_abnormal_hair_cell	0.93329233
51	MP0005248_abnormal_Harderian_gland	0.93251025
52	MP0005408_hypopigmentation	0.93084700
53	MP0002876_abnormal_thyroid_physiology	0.90262690
54	MP0005636_abnormal_mineral_homeostasis	0.90237566
55	MP0001970_abnormal_pain_threshold	0.89769940
56	MP0005365_abnormal_bile_salt	0.87239547
57	MP0000955_abnormal_spinal_cord	0.86684764
58	MP0001963_abnormal_hearing_physiology	0.85943917
59	MP0009745_abnormal_behavioral_response	0.85880677
60	MP0008995_early_reproductive_senescence	0.85574471
61	MP0005389_reproductive_system_phenotype	0.84677914
62	MP0003938_abnormal_ear_development	0.83555682
63	MP0002161_abnormal_fertility/fecundity	0.80845680
64	MP0001324_abnormal_eye_pigmentation	0.80540021
65	MP0002572_abnormal_emotion/affect_behav	0.79732924
66	MP0005395_other_phenotype	0.79414160
67	MP0000049_abnormal_middle_ear	0.75389931
68	MP0001502_abnormal_circadian_rhythm	0.75308224
69	MP0005195_abnormal_posterior_eye	0.73267347
70	MP0005423_abnormal_somatic_nervous	0.72747371
71	MP0002557_abnormal_social/conspecific_i	0.72398244
72	MP0009765_abnormal_xenobiotic_induced	0.71347959
73	MP0002272_abnormal_nervous_system	0.70733887
74	MP0006276_abnormal_autonomic_nervous	0.69533958
75	MP0003937_abnormal_limbs/digits/tail_de	0.69003324
76	MP0001188_hyperpigmentation	0.68925998
77	MP0001529_abnormal_vocalization	0.68771198
78	MP0003011_delayed_dark_adaptation	0.66910611
79	MP0000534_abnormal_ureter_morphology	0.66530611
80	MP0000631_abnormal_neuroendocrine_gland	0.65419354
81	MP0005391_vision/eye_phenotype	0.64828343
82	MP0003861_abnormal_nervous_system	0.64363870
83	MP0005503_abnormal_tendon_morphology	0.64194043
84	MP0002229_neurodegeneration	0.63071284
85	MP0002116_abnormal_craniofacial_bone	0.62054749
86	MP0003942_abnormal_urinary_system	0.61891626
87	MP0002098_abnormal_vibrissa_morphology	0.60104163
88	MP0005085_abnormal_gallbladder_physiolo	0.57405711
89	MP0001905_abnormal_dopamine_level	0.57177277
90	MP0000778_abnormal_nervous_system	0.56861764
91	MP0001299_abnormal_eye_distance/	0.56048901
92	MP0001944_abnormal_pancreas_morphology	0.55567471
93	MP0002752_abnormal_somatic_nervous	0.54521436
94	MP0004883_abnormal_blood_vessel	0.54520038
95	MP0000467_abnormal_esophagus_morphology	0.54167610
96	MP0002882_abnormal_neuron_morphology	0.54028695
97	MP0001270_distended_abdomen	0.53710832
98	MP0004742_abnormal_vestibular_system	0.52310965
99	MP0004859_abnormal_synaptic_plasticity	0.52164106
100	MP0004885_abnormal_endolymph	0.51393049

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Rhinitis (HP:0012384)	9.80800580
2	Chronic bronchitis (HP:0004469)	7.36458223
3	Bronchiectasis (HP:0002110)	7.04362816
4	Nasal polyposis (HP:0100582)	6.67522352
5	Abnormality of the nasal mucosa (HP:0000433)	5.50526965
6	Infertility (HP:0000789)	4.32103194
7	Chronic sinusitis (HP:0011109)	4.22893046
8	Occipital encephalocele (HP:0002085)	4.01081944
9	Bronchitis (HP:0012387)	3.93735193
10	True hermaphroditism (HP:0010459)	3.88206506
11	Recurrent sinusitis (HP:0011108)	3.87088724
12	Pancreatic fibrosis (HP:0100732)	3.79173546
13	Recurrent otitis media (HP:0000403)	3.46360097
14	Male infertility (HP:0003251)	3.40954253
15	Nephronophthisis (HP:0000090)	3.38453307
16	Molar tooth sign on MRI (HP:0002419)	3.35123449
17	Abnormality of midbrain morphology (HP:0002418)	3.35123449
18	Pancreatic cysts (HP:0001737)	3.17305101
19	Chronic hepatic failure (HP:0100626)	3.16392187
20	Cystic liver disease (HP:0006706)	3.11758530
21	Chronic otitis media (HP:0000389)	2.85159105
22	Atelectasis (HP:0100750)	2.77942585
23	Tubulointerstitial nephritis (HP:0001970)	2.68917546
24	Abnormality of the renal medulla (HP:0100957)	2.58225599
25	Postaxial foot polydactyly (HP:0001830)	2.55684878
26	Medial flaring of the eyebrow (HP:0010747)	2.54412789
27	Hyperactive renin-angiotensin system (HP:0000841)	2.31696573
28	Congenital hepatic fibrosis (HP:0002612)	2.28717295
29	Anencephaly (HP:0002323)	2.25299207
30	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.20829221
31	Gait imbalance (HP:0002141)	2.19922050
32	Congenital primary aphakia (HP:0007707)	2.19727915
33	Male pseudohermaphroditism (HP:0000037)	2.12501268
34	Tubular atrophy (HP:0000092)	2.12408230
35	Sclerocornea (HP:0000647)	2.04435001
36	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	11.9803085
37	Abnormal respiratory motile cilium physiology (HP:0012261)	11.1925292
38	Abnormal ciliary motility (HP:0012262)	11.1022993
39	Abnormal respiratory epithelium morphology (HP:0012253)	10.8970800
40	Abnormal respiratory motile cilium morphology (HP:0005938)	10.8970800
41	Absent/shortened dynein arms (HP:0200106)	10.6177011
42	Dynein arm defect of respiratory motile cilia (HP:0012255)	10.6177011
43	Bell-shaped thorax (HP:0001591)	1.95215220
44	Nephrogenic diabetes insipidus (HP:0009806)	1.91313688
45	Oculomotor apraxia (HP:0000657)	1.86423204
46	Furrowed tongue (HP:0000221)	1.84379412
47	Postaxial hand polydactyly (HP:0001162)	1.79514456
48	Tubulointerstitial abnormality (HP:0001969)	1.70182788
49	Short nail (HP:0001799)	1.64787387
50	Poor coordination (HP:0002370)	1.64717783
51	Vaginal atresia (HP:0000148)	1.62831672
52	Decreased circulating renin level (HP:0003351)	1.62394253
53	Nephropathy (HP:0000112)	1.61782993
54	Genital tract atresia (HP:0001827)	1.60538598
55	Recurrent bronchitis (HP:0002837)	1.58113110
56	Preaxial hand polydactyly (HP:0001177)	1.55387787
57	Stage 5 chronic kidney disease (HP:0003774)	1.53364117
58	Asplenia (HP:0001746)	1.50309353
59	Hyperkalemia (HP:0002153)	1.48400722
60	Aplasia/Hypoplasia of the spleen (HP:0010451)	1.48021778
61	Absent frontal sinuses (HP:0002688)	1.45932534
62	Abnormality of the dental root (HP:0006486)	1.45018931
63	Taurodontia (HP:0000679)	1.45018931
64	Abnormality of permanent molar morphology (HP:0011071)	1.45018931
65	Polydipsia (HP:0001959)	1.42653262
66	Abnormal drinking behavior (HP:0030082)	1.42653262
67	Renal salt wasting (HP:0000127)	1.40243054
68	Abnormality of dentin (HP:0010299)	1.38004038
69	Median cleft lip (HP:0000161)	1.36987157
70	Abnormality of molar morphology (HP:0011070)	1.33809720
71	Abnormality of molar (HP:0011077)	1.33809720
72	Abnormality of the dental pulp (HP:0006479)	1.32491221
73	Abnormality of abdominal situs (HP:0011620)	1.28952057
74	Abdominal situs inversus (HP:0003363)	1.28952057
75	Tubulointerstitial fibrosis (HP:0005576)	1.25043682
76	Cone-rod dystrophy (HP:0000548)	1.24924139
77	Decreased central vision (HP:0007663)	1.24075235
78	Supernumerary spleens (HP:0009799)	1.24030569
79	Bifid scrotum (HP:0000048)	1.21967401
80	Abnormal rod and cone electroretinograms (HP:0008323)	1.16284819
81	Abnormality of macular pigmentation (HP:0008002)	1.16039355
82	Hyperaldosteronism (HP:0000859)	1.13880512
83	Abnormality of renin-angiotensin system (HP:0000847)	1.13227061
84	Abnormality of the renal cortex (HP:0011035)	1.12800722
85	Narrow forehead (HP:0000341)	1.12482686
86	Abnormal biliary tract physiology (HP:0012439)	1.12308026
87	Bile duct proliferation (HP:0001408)	1.12308026
88	Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)	1.11788879
89	Absent rod-and cone-mediated responses on ERG (HP:0007688)	1.11357507
90	Short thorax (HP:0010306)	1.09447192
91	Retinitis pigmentosa (HP:0000510)	1.08439047
92	Prominent nasal bridge (HP:0000426)	1.08278107
93	Aganglionic megacolon (HP:0002251)	1.07550068
94	Aplasia/Hypoplasia of the lens (HP:0008063)	1.07531987
95	Bony spicule pigmentary retinopathy (HP:0007737)	1.07058946
96	Abnormality of chloride homeostasis (HP:0011422)	1.06998755
97	Nonprogressive disorder (HP:0003680)	1.05532898
98	Broad distal phalanx of finger (HP:0009836)	1.04494702
99	Multicystic kidney dysplasia (HP:0000003)	0.98879415
100	Renal dysplasia (HP:0000110)	0.97266014

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	MST4	3.94456741
2	PNCK	3.51889268
3	EPHA2	3.38570630
4	PTK2B	2.41965951
5	MAPKAPK3	2.32884664
6	MAPK15	12.0900021
7	MAP3K2	1.98536818
8	INSRR	1.94817893
9	CCNB1	1.70769049
10	NME1	1.68953513
11	STK16	1.49266225
12	STK24	1.42103236
13	TLK1	1.27817672
14	MAP3K4	1.21825651
15	NEK6	1.16559451
16	STK38	1.14576562
17	MUSK	1.11185483
18	TESK1	1.08181971
19	TTK	1.04868152
20	STK38L	0.99954921
21	EPHB1	0.99623109
22	PLK4	0.98124120
23	MAP4K2	0.96248183
24	EEF2K	0.92816176
25	PINK1	0.90230583
26	CSK	0.89861713
27	DYRK1B	0.87051365
28	BCR	0.86894660
29	WNK4	0.85916047
30	MAP3K3	0.85441388
31	MST1R	0.77547292
32	LRRK2	0.74818922
33	TRPM7	0.74731717
34	MAP2K7	0.74107670
35	PASK	0.73366741
36	LATS1	0.72957426
37	CAMKK1	0.70975337
38	MARK2	0.66929805
39	EPHA3	0.65152111
40	WNK3	0.63837639
41	TSSK6	0.63443017
42	SMG1	0.62473706
43	AURKA	0.61623860
44	ERBB3	0.61588709
45	ERBB2	0.61119086
46	CAMK1G	0.61107828
47	MAP3K7	0.60346072
48	MAP2K4	0.60050026
49	GRK1	0.55606993
50	WEE1	0.55453736
51	NTRK3	0.53914421
52	BMPR1B	0.52619504
53	PRKCI	0.50125474
54	CASK	0.45749352
55	STK10	0.45292214
56	MAP3K12	0.44254886
57	STK39	0.43666734
58	PRKCQ	0.43193895
59	PRKD3	0.42047583
60	SGK1	0.41829040
61	DYRK3	0.41707649
62	PRKACA	0.40335875
63	SGK494	0.40136833
64	SGK223	0.40136833
65	MAPK13	0.39249912
66	CAMKK2	0.38278390
67	RPS6KA2	0.37711728
68	CAMK2G	0.36328105
69	PDPK1	0.36104436
70	ADRBK2	0.33734618
71	BRSK2	0.33539988
72	DYRK1A	0.32903469
73	PRKCG	0.32808964
74	PTK6	0.31642991
75	ROCK1	0.29979146
76	GRK6	0.29908454
77	DMPK	0.29853974
78	PRKCD	0.29679724
79	ADRBK1	0.29088213
80	ICK	0.28964405
81	PRKG1	0.28525665
82	PRKCZ	0.28474307
83	PRKAA2	0.26536502
84	CAMK2A	0.25950106
85	AKT2	0.24899124
86	OXSR1	0.24498436
87	CSNK1G2	0.23999550
88	PRKCA	0.23574792
89	NEK9	0.22645988
90	BRD4	0.22200086
91	PLK2	0.21876358
92	WNK1	0.21840620
93	ROCK2	0.19875296
94	FGFR2	0.19653087
95	MAP2K2	0.18658597
96	TBK1	0.17549873
97	MAPKAPK5	0.17143984
98	DYRK2	0.17056783
99	DDR2	0.16831610
100	PDK1	0.16499790

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	5.08381482
2	Phenylalanine metabolism_Homo sapiens_hsa00360	4.26695018
3	Chemical carcinogenesis_Homo sapiens_hsa05204	4.18108072
4	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	3.92530235
5	Histidine metabolism_Homo sapiens_hsa00340	3.87469981
6	Huntingtons disease_Homo sapiens_hsa05016	3.60473091
7	Tyrosine metabolism_Homo sapiens_hsa00350	3.13920166
8	beta-Alanine metabolism_Homo sapiens_hsa00410	2.57328880
9	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.51861568
10	Glutathione metabolism_Homo sapiens_hsa00480	2.50276239
11	Retinol metabolism_Homo sapiens_hsa00830	2.12074621
12	Caffeine metabolism_Homo sapiens_hsa00232	1.92807765
13	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	1.86049034
14	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	1.63856188
15	Linoleic acid metabolism_Homo sapiens_hsa00591	1.62041792
16	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.51837867
17	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	1.51338148
18	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	1.40219579
19	Nicotine addiction_Homo sapiens_hsa05033	1.39935504
20	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.32594555
21	Olfactory transduction_Homo sapiens_hsa04740	1.26181335
22	Peroxisome_Homo sapiens_hsa04146	1.23401684
23	ABC transporters_Homo sapiens_hsa02010	1.23260170
24	Oxidative phosphorylation_Homo sapiens_hsa00190	1.19611373
25	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.19158875
26	Tight junction_Homo sapiens_hsa04530	1.19122352
27	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.18012474
28	Salivary secretion_Homo sapiens_hsa04970	1.17074282
29	Sphingolipid metabolism_Homo sapiens_hsa00600	1.16471611
30	Fatty acid degradation_Homo sapiens_hsa00071	1.15775672
31	Hedgehog signaling pathway_Homo sapiens_hsa04340	1.15518047
32	Taste transduction_Homo sapiens_hsa04742	1.10614382
33	Cardiac muscle contraction_Homo sapiens_hsa04260	1.10521642
34	Butanoate metabolism_Homo sapiens_hsa00650	1.04354786
35	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.00815764
36	Carbohydrate digestion and absorption_Homo sapiens_hsa04973	0.97743150
37	Cocaine addiction_Homo sapiens_hsa05030	0.97090201
38	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.96502533
39	Basal cell carcinoma_Homo sapiens_hsa05217	0.94287756
40	Phototransduction_Homo sapiens_hsa04744	0.89878014
41	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.88459519
42	Notch signaling pathway_Homo sapiens_hsa04330	0.86628847
43	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.81143249
44	Alzheimers disease_Homo sapiens_hsa05010	0.78717121
45	Parkinsons disease_Homo sapiens_hsa05012	0.78275337
46	Collecting duct acid secretion_Homo sapiens_hsa04966	0.78272876
47	Nitrogen metabolism_Homo sapiens_hsa00910	0.75711005
48	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.71103106
49	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.70826236
50	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.70612486
51	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.70217506
52	cAMP signaling pathway_Homo sapiens_hsa04024	0.67011172
53	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.66271196
54	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.63702664
55	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.63194489
56	Serotonergic synapse_Homo sapiens_hsa04726	0.63061584
57	Glycerolipid metabolism_Homo sapiens_hsa00561	0.62856119
58	Amphetamine addiction_Homo sapiens_hsa05031	0.62766174
59	Circadian rhythm_Homo sapiens_hsa04710	0.62700143
60	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.59107201
61	PPAR signaling pathway_Homo sapiens_hsa03320	0.56108080
62	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.54985542
63	Arginine and proline metabolism_Homo sapiens_hsa00330	0.54985513
64	Calcium signaling pathway_Homo sapiens_hsa04020	0.54566494
65	Metabolic pathways_Homo sapiens_hsa01100	0.52362926
66	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.46534544
67	Glutamatergic synapse_Homo sapiens_hsa04724	0.46016443
68	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.43719995
69	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.42659580
70	Hippo signaling pathway_Homo sapiens_hsa04390	0.42514540
71	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.42380411
72	Tryptophan metabolism_Homo sapiens_hsa00380	0.42208453
73	Steroid biosynthesis_Homo sapiens_hsa00100	0.36835247
74	Arginine biosynthesis_Homo sapiens_hsa00220	0.36662001
75	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.36486438
76	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	0.34323659
77	Choline metabolism in cancer_Homo sapiens_hsa05231	0.33305865
78	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.33255266
79	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	0.32245334
80	Pancreatic secretion_Homo sapiens_hsa04972	0.31938395
81	Bile secretion_Homo sapiens_hsa04976	0.30548457
82	Purine metabolism_Homo sapiens_hsa00230	0.29084434
83	Axon guidance_Homo sapiens_hsa04360	0.28763204
84	Circadian entrainment_Homo sapiens_hsa04713	0.28482870
85	Gastric acid secretion_Homo sapiens_hsa04971	0.27687746
86	Pyruvate metabolism_Homo sapiens_hsa00620	0.26638726
87	Insulin secretion_Homo sapiens_hsa04911	0.25944703
88	Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750	0.25154736
89	Mineral absorption_Homo sapiens_hsa04978	0.25001936
90	Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141	0.23629151
91	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.23524735
92	Transcriptional misregulation in cancer_Homo sapiens_hsa05202	0.23050228
93	Complement and coagulation cascades_Homo sapiens_hsa04610	0.22646454
94	Type I diabetes mellitus_Homo sapiens_hsa04940	0.17978489
95	Dopaminergic synapse_Homo sapiens_hsa04728	0.16215316
96	Melanogenesis_Homo sapiens_hsa04916	0.15919512
97	Nucleotide excision repair_Homo sapiens_hsa03420	0.15293454
98	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.14954429
99	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.12615155
100	Type II diabetes mellitus_Homo sapiens_hsa04930	0.11677413

C1ORF194

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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