ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	axoneme assembly (GO:0035082)	8.24046870
2	left/right pattern formation (GO:0060972)	8.05045847
3	regulation of cilium movement (GO:0003352)	7.20956723
4	intraciliary transport (GO:0042073)	6.69328518
5	ventricular system development (GO:0021591)	5.86899598
6	left/right axis specification (GO:0070986)	5.75041128
7	primary alcohol catabolic process (GO:0034310)	5.55300798
8	microtubule bundle formation (GO:0001578)	5.47250999
9	cilium organization (GO:0044782)	5.42265789
10	cilium assembly (GO:0042384)	5.31498407
11	centriole assembly (GO:0098534)	4.63535699
12	vitamin transmembrane transport (GO:0035461)	4.56977578
13	nucleoside diphosphate phosphorylation (GO:0006165)	4.55988200
14	regulation of microtubule-based movement (GO:0060632)	4.43162624
15	protein localization to cilium (GO:0061512)	4.35864410
16	ethanol metabolic process (GO:0006067)	4.34556633
17	microtubule-based movement (GO:0007018)	4.17429444
18	sperm capacitation (GO:0048240)	4.15150504
19	cellular component assembly involved in morphogenesis (GO:0010927)	4.12007541
20	cilium morphogenesis (GO:0060271)	4.08634420
21	establishment of apical/basal cell polarity (GO:0035089)	4.01916498
22	establishment or maintenance of monopolar cell polarity (GO:0061339)	3.99758482
23	establishment of monopolar cell polarity (GO:0061162)	3.99758482
24	negative regulation of T cell differentiation in thymus (GO:0033085)	3.89607488
25	pyrimidine deoxyribonucleotide catabolic process (GO:0009223)	3.86909739
26	diterpenoid biosynthetic process (GO:0016102)	3.86817165
27	GTP biosynthetic process (GO:0006183)	3.73976065
28	aldehyde catabolic process (GO:0046185)	3.73591311
29	microtubule depolymerization (GO:0007019)	3.68552261
30	pyrimidine-containing compound transmembrane transport (GO:0072531)	3.66993784
31	lung epithelium development (GO:0060428)	3.61327578
32	cell projection assembly (GO:0030031)	3.59839644
33	sperm motility (GO:0030317)	3.53919647
34	one-carbon compound transport (GO:0019755)	3.50348561
35	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	3.48486169
36	response to xenobiotic stimulus (GO:0009410)	3.38893403
37	terpenoid biosynthetic process (GO:0016114)	3.38122853
38	centriole replication (GO:0007099)	3.31814867
39	establishment of protein localization to mitochondrial membrane (GO:0090151)	3.31313103
40	microtubule polymerization or depolymerization (GO:0031109)	3.30767247
41	UTP biosynthetic process (GO:0006228)	3.29600032
42	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	3.27044800
43	ethanol oxidation (GO:0006069)	3.25403104
44	pyrimidine nucleotide catabolic process (GO:0006244)	3.23657704
45	ATP synthesis coupled proton transport (GO:0015986)	3.18218711
46	energy coupled proton transport, down electrochemical gradient (GO:0015985)	3.18218711
47	base-excision repair, AP site formation (GO:0006285)	3.16103595
48	glutathione derivative metabolic process (GO:1901685)	3.14299485
49	glutathione derivative biosynthetic process (GO:1901687)	3.14299485
50	establishment of planar polarity (GO:0001736)	3.10484871
51	establishment of tissue polarity (GO:0007164)	3.10484871
52	lateral ventricle development (GO:0021670)	3.08774367
53	retinoic acid metabolic process (GO:0042573)	3.06648793
54	nonmotile primary cilium assembly (GO:0035058)	3.04512864
55	glomerular epithelial cell development (GO:0072310)	2.98754914
56	determination of left/right symmetry (GO:0007368)	2.98621989
57	UTP metabolic process (GO:0046051)	2.95621653
58	ribosomal small subunit assembly (GO:0000028)	2.93831549
59	nucleotide phosphorylation (GO:0046939)	2.92332818
60	smoothened signaling pathway (GO:0007224)	2.92135704
61	CTP biosynthetic process (GO:0006241)	2.90497653
62	CTP metabolic process (GO:0046036)	2.90497653
63	hydrogen peroxide catabolic process (GO:0042744)	2.90481532
64	chaperone-mediated protein transport (GO:0072321)	2.89579615
65	viral transcription (GO:0019083)	2.89048847
66	electron transport chain (GO:0022900)	2.87660051
67	determination of bilateral symmetry (GO:0009855)	2.83759885
68	cytoplasmic microtubule organization (GO:0031122)	2.83116114
69	respiratory electron transport chain (GO:0022904)	2.80755486
70	translational termination (GO:0006415)	2.80178524
71	specification of symmetry (GO:0009799)	2.79039459
72	pyrimidine deoxyribonucleotide metabolic process (GO:0009219)	2.77607524
73	protein polyglutamylation (GO:0018095)	2.77484998
74	regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	2.77431128
75	positive regulation of smoothened signaling pathway (GO:0045880)	2.76838935
76	nucleoside triphosphate biosynthetic process (GO:0009142)	2.72961777
77	microtubule-based process (GO:0007017)	2.64561524
78	nucleoside diphosphate metabolic process (GO:0009132)	2.64016711
79	pyrimidine ribonucleoside triphosphate biosynthetic process (GO:0009209)	2.63085985
80	purine ribonucleoside triphosphate biosynthetic process (GO:0009206)	2.62352108
81	purine nucleoside triphosphate biosynthetic process (GO:0009145)	2.57863830
82	pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)	2.56300816
83	organelle assembly (GO:0070925)	2.55834422
84	ribosomal small subunit biogenesis (GO:0042274)	2.54911124
85	regulation of microtubule depolymerization (GO:0031114)	2.54798147
86	guanosine-containing compound biosynthetic process (GO:1901070)	2.50532222
87	primary alcohol metabolic process (GO:0034308)	2.49945186
88	myoblast migration (GO:0051451)	2.45875711
89	SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	2.44871306
90	cotranslational protein targeting to membrane (GO:0006613)	2.44142204
91	lateral sprouting from an epithelium (GO:0060601)	2.43886348
92	regulation of interleukin-5 production (GO:0032674)	2.43599365
93	tolerance induction (GO:0002507)	2.43483428
94	protein targeting to ER (GO:0045047)	2.42714775
95	axonemal dynein complex assembly (GO:0070286)	18.2932992
96	cilium or flagellum-dependent cell motility (GO:0001539)	13.2734624
97	cilium movement (GO:0003341)	12.8863827
98	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	11.9370821
99	motile cilium assembly (GO:0044458)	11.8683423
100	epithelial cilium movement (GO:0003351)	11.8095870

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	9.05398197
2	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	2.80414475
3	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.64581206
4	GABP_17652178_ChIP-ChIP_JURKAT_Human	2.60415444
5	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	2.25428470
6	SIN3A_21632747_ChIP-Seq_MESCs_Mouse	2.21467869
7	SIN3B_21632747_ChIP-Seq_MESCs_Mouse	2.18293606
8	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	2.16764599
9	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.12851381
10	TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse	1.86106161
11	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	1.84041858
12	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	1.75740059
13	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.75420554
14	DMRT1_21621532_ChIP-ChIP_FETAL_Ovary	1.73056151
15	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.69809675
16	ZFP42_18358816_ChIP-ChIP_MESCs_Mouse	1.67938884
17	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.66271825
18	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.66114560
19	MYC_18555785_ChIP-Seq_MESCs_Mouse	1.64886291
20	TRIM28_21343339_ChIP-Seq_HEK293_Human	1.62106974
21	XRN2_22483619_ChIP-Seq_HELA_Human	1.57851301
22	CTCF_27219007_Chip-Seq_Bcells_Human	1.54565845
23	GABP_19822575_ChIP-Seq_HepG2_Human	1.53947008
24	ETS1_20019798_ChIP-Seq_JURKAT_Human	1.51364595
25	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.49873555
26	YY1_22570637_ChIP-Seq_MALME-3M_Human	1.45343457
27	* SMC4_20622854_ChIP-Seq_HELA_Human	1.42617086
28	STAT1_20625510_ChIP-Seq_HELA_Human	1.41722021
29	SOX2_18555785_ChIP-Seq_MESCs_Mouse	1.39393199
30	FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.39310605
31	HCFC1_20581084_ChIP-Seq_MESCs_Mouse	1.36196490
32	DROSHA_22980978_ChIP-Seq_HELA_Human	1.34890313
33	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.34720882
34	ERG_21242973_ChIP-ChIP_JURKAT_Human	1.32056227
35	SRY_22984422_ChIP-ChIP_TESTIS_Rat	1.31798902
36	CTCF_20526341_ChIP-Seq_ESCs_Human	1.30853899
37	CEBPB_24764292_ChIP-Seq_MC3T3_Mouse	1.30696732
38	P68_20966046_ChIP-Seq_HELA_Human	1.30689098
39	ELF1_20517297_ChIP-Seq_JURKAT_Human	1.30679827
40	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.29181117
41	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.27773419
42	RAD21_21589869_ChIP-Seq_MESCs_Mouse	1.26248732
43	PHF8_20622854_ChIP-Seq_HELA_Human	1.24628810
44	ZFP281_18358816_ChIP-ChIP_MESCs_Mouse	1.23001878
45	ZNF263_19887448_ChIP-Seq_K562_Human	1.21578162
46	SMAD2/3_21741376_ChIP-Seq_ESCs_Human	1.21095298
47	GATA1_26923725_Chip-Seq_HPCs_Mouse	1.20840825
48	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.13487024
49	* FOXP1_21924763_ChIP-Seq_HESCs_Human	1.12636502
50	RBPJ_21746931_ChIP-Seq_IB4-LCL_Human	1.12289129
51	MYC_19030024_ChIP-ChIP_MESCs_Mouse	1.12089828
52	VDR_22108803_ChIP-Seq_LS180_Human	1.11441962
53	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	1.10492918
54	TTF2_22483619_ChIP-Seq_HELA_Human	1.10199285
55	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.07490180
56	DCP1A_22483619_ChIP-Seq_HELA_Human	1.07466972
57	TP63_22573176_ChIP-Seq_HFKS_Human	1.05689662
58	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.05181118
59	E2F1_18555785_ChIP-Seq_MESCs_Mouse	1.03264634
60	EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse	1.02084364
61	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	0.99569368
62	PHF8_20622853_ChIP-Seq_HELA_Human	0.99178940
63	TDRD3_21172665_ChIP-Seq_MCF-7_Human	0.97646477
64	FLI1_21867929_ChIP-Seq_CD8_Mouse	0.97309195
65	ERA_21632823_ChIP-Seq_H3396_Human	0.96865592
66	RBPJ_21746931_ChIP-Seq_IB4_Human	0.96499951
67	TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse	0.95730800
68	SOX2_21211035_ChIP-Seq_LN229_Human	0.95329709
69	PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse	0.94639615
70	RUNX1_27514584_Chip-Seq_MCF-7_Human	0.94396215
71	* E2F1_20622854_ChIP-Seq_HELA_Human	0.94140670
72	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	0.90533919
73	CDX2_21074721_ChIP-Seq_CACO-2_Mouse	0.90364721
74	MYC_18940864_ChIP-ChIP_HL60_Human	0.89320654
75	STAT3_1855785_ChIP-Seq_MESCs_Mouse	0.88803293
76	ETV1_20927104_ChIP-Seq_GIST48_Human	0.88707008
77	BMI1_23680149_ChIP-Seq_NPCS_Mouse	0.87406169
78	SA1_27219007_Chip-Seq_ERYTHROID_Human	0.86843004
79	PADI4_21655091_ChIP-ChIP_MCF-7_Human	0.86803599
80	PCGF4_22325352_ChIP-Seq_293T-Rex_Human	0.86142248
81	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	0.85836187
82	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	0.85809144
83	TET1_21451524_ChIP-Seq_MESCs_Mouse	0.85647298
84	SA1_27219007_Chip-Seq_Bcells_Human	0.85618799
85	E2F1_17053090_ChIP-ChIP_MCF-7_Human	0.85393647
86	EBNA1_20929547_Chip-Seq_RAJI-cells_Human	0.85050693
87	FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human	0.83400913
88	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.82967305
89	HNFA_21074721_ChIP-Seq_CACO-2_Human	0.82896421
90	ESRRB_18555785_ChIP-Seq_MESCs_Mouse	0.82874470
91	SOX2_22085726_ChIP-Seq_NPCs_Mouse	0.82641661
92	RARA_24833708_ChIP-Seq_LIVER_Mouse	0.82363514
93	P300_27268052_Chip-Seq_Bcells_Human	0.82143221
94	CREB1_26743006_Chip-Seq_LNCaP_Human	0.81128814
95	KLF4_19030024_ChIP-ChIP_MESCs_Mouse	0.80701630
96	GATA6_21074721_ChIP-Seq_CACO-2_Human	0.78987461
97	ERG_20517297_ChIP-Seq_VCAP_Human	0.78660680
98	NANOG_20526341_ChIP-Seq_ESCs_Human	0.78171414
99	SOX2_18692474_ChIP-Seq_MEFs_Mouse	0.77327959
100	AR_20517297_ChIP-Seq_VCAP_Human	0.77303701

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002653_abnormal_ependyma_morphology	5.54251971
2	MP0008875_abnormal_xenobiotic_pharmacok	4.40883527
3	MP0009379_abnormal_foot_pigmentation	3.72898733
4	MP0008789_abnormal_olfactory_epithelium	3.72566333
5	MP0002132_abnormal_respiratory_system	3.51332148
6	MP0004133_heterotaxia	3.33859273
7	MP0010030_abnormal_orbit_morphology	3.08639542
8	MP0001984_abnormal_olfaction	3.08350496
9	MP0005499_abnormal_olfactory_system	2.94656376
10	MP0005394_taste/olfaction_phenotype	2.94656376
11	MP0000566_synostosis	2.88314680
12	MP0004043_abnormal_pH_regulation	2.56496391
13	MP0005623_abnormal_meninges_morphology	2.39713947
14	MP0005377_hearing/vestibular/ear_phenot	2.25449501
15	MP0003878_abnormal_ear_physiology	2.25449501
16	MP0006292_abnormal_olfactory_placode	2.22501504
17	MP0002160_abnormal_reproductive_system	2.14390453
18	MP0002277_abnormal_respiratory_mucosa	2.12207070
19	MP0003136_yellow_coat_color	2.05863349
20	MP0001293_anophthalmia	2.02097714
21	MP0003123_paternal_imprinting	1.81342857
22	MP0002282_abnormal_trachea_morphology	1.68613164
23	MP0004019_abnormal_vitamin_homeostasis	1.65905278
24	MP0002822_catalepsy	1.65080327
25	MP0009780_abnormal_chondrocyte_physiolo	1.63247974
26	MP0001188_hyperpigmentation	1.57306325
27	MP0005083_abnormal_biliary_tract	1.52546171
28	MP0000049_abnormal_middle_ear	1.52009383
29	MP0002233_abnormal_nose_morphology	1.50961894
30	MP0002249_abnormal_larynx_morphology	1.46603009
31	MP0001485_abnormal_pinna_reflex	1.45419694
32	MP0001529_abnormal_vocalization	1.43794492
33	MP0003890_abnormal_embryonic-extraembry	1.40511928
34	MP0003186_abnormal_redox_activity	1.35828374
35	MP0001346_abnormal_lacrimal_gland	1.34988973
36	MP0002638_abnormal_pupillary_reflex	1.29644437
37	MP0003941_abnormal_skin_development	1.25096902
38	MP0002734_abnormal_mechanical_nocicepti	1.21929451
39	MP0005248_abnormal_Harderian_gland	1.20825055
40	MP0003937_abnormal_limbs/digits/tail_de	1.19468593
41	MP0000678_abnormal_parathyroid_gland	1.14320090
42	MP0000026_abnormal_inner_ear	1.13221235
43	MP0003942_abnormal_urinary_system	1.10854682
44	MP0003938_abnormal_ear_development	1.10252148
45	MP0005389_reproductive_system_phenotype	1.10060020
46	MP0003698_abnormal_male_reproductive	1.05033829
47	MP0003861_abnormal_nervous_system	1.04635555
48	MP0005408_hypopigmentation	1.01985782
49	MP0001929_abnormal_gametogenesis	1.01635097
50	MP0006072_abnormal_retinal_apoptosis	1.01052462
51	MP0006036_abnormal_mitochondrial_physio	0.98447537
52	MP0003806_abnormal_nucleotide_metabolis	0.96976831
53	MP0000955_abnormal_spinal_cord	0.96718160
54	MP0000383_abnormal_hair_follicle	0.92418289
55	MP0002092_abnormal_eye_morphology	0.89361038
56	MP0002909_abnormal_adrenal_gland	0.88067933
57	MP0005391_vision/eye_phenotype	0.87388760
58	MP0000631_abnormal_neuroendocrine_gland	0.87089875
59	MP0000778_abnormal_nervous_system	0.86797951
60	MP0005195_abnormal_posterior_eye	0.84845940
61	MP0008932_abnormal_embryonic_tissue	0.81344962
62	MP0003011_delayed_dark_adaptation	0.81059648
63	MP0002234_abnormal_pharynx_morphology	0.80728780
64	MP0001286_abnormal_eye_development	0.80715491
65	MP0001299_abnormal_eye_distance/	0.80695194
66	MP0002084_abnormal_developmental_patter	0.80417376
67	MP0002938_white_spotting	0.79921150
68	MP0003693_abnormal_embryo_hatching	0.79551354
69	MP0002116_abnormal_craniofacial_bone	0.79491528
70	MP0002752_abnormal_somatic_nervous	0.79355495
71	MP0005551_abnormal_eye_electrophysiolog	0.78348262
72	MP0001963_abnormal_hearing_physiology	0.78186182
73	MP0009053_abnormal_anal_canal	0.75360245
74	MP0002557_abnormal_social/conspecific_i	0.75111938
75	MP0002210_abnormal_sex_determination	0.74994601
76	MP0005253_abnormal_eye_physiology	0.74800636
77	MP0003718_maternal_effect	0.74246573
78	MP0004957_abnormal_blastocyst_morpholog	0.73321696
79	MP0005636_abnormal_mineral_homeostasis	0.72704236
80	MP0002085_abnormal_embryonic_tissue	0.72049295
81	MP0008995_early_reproductive_senescence	0.70543923
82	MP0003119_abnormal_digestive_system	0.70395374
83	MP0002161_abnormal_fertility/fecundity	0.70089445
84	MP0005395_other_phenotype	0.67774372
85	MP0002152_abnormal_brain_morphology	0.67486910
86	MP0001145_abnormal_male_reproductive	0.67104406
87	MP0001727_abnormal_embryo_implantation	0.64385200
88	MP0000653_abnormal_sex_gland	0.63864985
89	MP0001905_abnormal_dopamine_level	0.63549235
90	MP0001324_abnormal_eye_pigmentation	0.63371741
91	MP0009046_muscle_twitch	0.62063447
92	MP0001765_abnormal_ion_homeostasis	0.61739250
93	MP0002168_other_aberrant_phenotype	0.61696408
94	MP0002111_abnormal_tail_morphology	0.60968417
95	MP0010678_abnormal_skin_adnexa	0.60801995
96	MP0002736_abnormal_nociception_after	0.60788813
97	MP0002882_abnormal_neuron_morphology	0.60428797
98	MP0002163_abnormal_gland_morphology	0.60134662
99	MP0008058_abnormal_DNA_repair	0.57296018
100	MP0006276_abnormal_autonomic_nervous	0.56564845

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Dynein arm defect of respiratory motile cilia (HP:0012255)	9.87909071
2	Absent/shortened dynein arms (HP:0200106)	9.87909071
3	Rhinitis (HP:0012384)	9.39534281
4	Chronic bronchitis (HP:0004469)	7.50732726
5	Bronchiectasis (HP:0002110)	6.71102815
6	Nasal polyposis (HP:0100582)	6.00649343
7	Abnormality of the nasal mucosa (HP:0000433)	4.83351358
8	Infertility (HP:0000789)	4.25229098
9	Occipital encephalocele (HP:0002085)	3.98647225
10	Pancreatic fibrosis (HP:0100732)	3.86790152
11	True hermaphroditism (HP:0010459)	3.80067483
12	Chronic sinusitis (HP:0011109)	3.67246557
13	Male infertility (HP:0003251)	3.55383887
14	Bronchitis (HP:0012387)	3.54490204
15	Recurrent sinusitis (HP:0011108)	3.41534794
16	Recurrent otitis media (HP:0000403)	3.28301825
17	Molar tooth sign on MRI (HP:0002419)	3.22212528
18	Abnormality of midbrain morphology (HP:0002418)	3.22212528
19	Nephronophthisis (HP:0000090)	3.18854669
20	Pancreatic cysts (HP:0001737)	3.09617931
21	Atelectasis (HP:0100750)	3.03617549
22	Cystic liver disease (HP:0006706)	2.98402565
23	Postaxial foot polydactyly (HP:0001830)	2.87537463
24	Anencephaly (HP:0002323)	2.60259762
25	Sclerocornea (HP:0000647)	2.43121041
26	Abnormality of the renal medulla (HP:0100957)	2.40432628
27	Medial flaring of the eyebrow (HP:0010747)	2.39900472
28	Chronic hepatic failure (HP:0100626)	2.37171382
29	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.34759765
30	Tubulointerstitial nephritis (HP:0001970)	2.29917187
31	Male pseudohermaphroditism (HP:0000037)	2.21833160
32	Congenital primary aphakia (HP:0007707)	2.21559311
33	Hyperactive renin-angiotensin system (HP:0000841)	2.21166688
34	Gait imbalance (HP:0002141)	2.19575280
35	Congenital hepatic fibrosis (HP:0002612)	2.18548757
36	Chronic otitis media (HP:0000389)	2.15721297
37	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	11.7734642
38	Abnormal respiratory motile cilium morphology (HP:0005938)	10.5313962
39	Abnormal respiratory epithelium morphology (HP:0012253)	10.5313962
40	Abnormal respiratory motile cilium physiology (HP:0012261)	10.5086828
41	Abnormal ciliary motility (HP:0012262)	10.1726047
42	Bell-shaped thorax (HP:0001591)	1.97652771
43	Nephrogenic diabetes insipidus (HP:0009806)	1.96545397
44	Postaxial hand polydactyly (HP:0001162)	1.90443769
45	Tubular atrophy (HP:0000092)	1.89917813
46	Preaxial hand polydactyly (HP:0001177)	1.87334909
47	Oculomotor apraxia (HP:0000657)	1.85197354
48	Aplasia/Hypoplasia of the sacrum (HP:0008517)	1.82584860
49	Aplasia/Hypoplasia of the spleen (HP:0010451)	1.81273767
50	Asplenia (HP:0001746)	1.81194348
51	Median cleft lip (HP:0000161)	1.68767926
52	Supernumerary spleens (HP:0009799)	1.66544086
53	Acute necrotizing encephalopathy (HP:0006965)	1.64722541
54	Renal salt wasting (HP:0000127)	1.63554199
55	Furrowed tongue (HP:0000221)	1.62290437
56	Vaginal atresia (HP:0000148)	1.59702158
57	Nephropathy (HP:0000112)	1.58348151
58	Abnormal mitochondria in muscle tissue (HP:0008316)	1.56978383
59	Genital tract atresia (HP:0001827)	1.54813897
60	Poor coordination (HP:0002370)	1.52577782
61	Facial cleft (HP:0002006)	1.44908312
62	Acute encephalopathy (HP:0006846)	1.42809454
63	Mitochondrial inheritance (HP:0001427)	1.37420444
64	Short nail (HP:0001799)	1.34127377
65	Optic nerve coloboma (HP:0000588)	1.32362267
66	Holoprosencephaly (HP:0001360)	1.32147058
67	Abnormal biliary tract physiology (HP:0012439)	1.28674197
68	Bile duct proliferation (HP:0001408)	1.28674197
69	Decreased circulating renin level (HP:0003351)	1.28335526
70	Tubulointerstitial abnormality (HP:0001969)	1.28274850
71	Abnormality of permanent molar morphology (HP:0011071)	1.25290344
72	Abnormality of the dental root (HP:0006486)	1.25290344
73	Taurodontia (HP:0000679)	1.25290344
74	Aganglionic megacolon (HP:0002251)	1.25256354
75	Myokymia (HP:0002411)	1.24815262
76	Stage 5 chronic kidney disease (HP:0003774)	1.24055561
77	Broad distal phalanx of finger (HP:0009836)	1.22520272
78	Renal dysplasia (HP:0000110)	1.20787978
79	Abnormality of the distal phalanges of the toes (HP:0010182)	1.19636061
80	Narrow forehead (HP:0000341)	1.19128056
81	Short thorax (HP:0010306)	1.18634592
82	Increased hepatocellular lipid droplets (HP:0006565)	1.17734487
83	Short femoral neck (HP:0100864)	1.17396214
84	Retinitis pigmentosa (HP:0000510)	1.16782527
85	Progressive macrocephaly (HP:0004481)	1.15752751
86	Abnormality of dentin (HP:0010299)	1.14638962
87	Anophthalmia (HP:0000528)	1.14513938
88	Bifid scrotum (HP:0000048)	1.13933273
89	Abnormality of molar (HP:0011077)	1.13156417
90	Abnormality of molar morphology (HP:0011070)	1.13156417
91	Absent frontal sinuses (HP:0002688)	1.13109623
92	Hepatocellular necrosis (HP:0001404)	1.12866625
93	Multicystic kidney dysplasia (HP:0000003)	1.12816766
94	Absent rod-and cone-mediated responses on ERG (HP:0007688)	1.12562538
95	Broad foot (HP:0001769)	1.12321581
96	Renal Fanconi syndrome (HP:0001994)	1.12203659
97	Aplasia/Hypoplasia of the lens (HP:0008063)	1.11807865
98	Prominent nasal bridge (HP:0000426)	1.11541711
99	Maternal diabetes (HP:0009800)	1.10625564
100	Increased CSF lactate (HP:0002490)	1.10099468

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	MAPK15	9.35061026
2	MST4	4.25826589
3	EPHA2	3.61589727
4	VRK2	3.23873592
5	STK16	3.20292123
6	NME1	2.55987996
7	SMG1	2.42329408
8	TTK	2.35730417
9	PBK	2.15744340
10	CDC7	1.90058047
11	PNCK	1.80365812
12	MAP3K12	1.66214857
13	BCR	1.58006735
14	PLK4	1.48051380
15	LRRK2	1.41757897
16	DYRK2	1.41438690
17	STK24	1.40195328
18	TESK1	1.29235235
19	BRSK2	1.25973675
20	MAPKAPK3	1.20209585
21	AURKA	1.13715198
22	PLK1	1.11737626
23	LIMK1	1.08931120
24	TAF1	1.06589988
25	NME2	1.06353795
26	ARAF	1.04171061
27	MAP4K2	1.03180493
28	MAP2K7	1.02615737
29	BRSK1	1.00058409
30	DYRK3	0.99364150
31	LATS1	0.98964285
32	WEE1	0.98592640
33	EIF2AK1	0.97015088
34	VRK1	0.95196643
35	MAP3K11	0.87323394
36	PRKCI	0.83885546
37	TSSK6	0.80320331
38	DYRK1B	0.78165455
39	TLK1	0.77733749
40	PTK2B	0.74699317
41	CDK19	0.73090962
42	CHEK2	0.70012561
43	ABL2	0.69528808
44	NEK1	0.68757638
45	CSNK1G2	0.65078612
46	BRAF	0.62842224
47	BUB1	0.62419533
48	PLK3	0.61894116
49	MARK2	0.61218253
50	AURKB	0.60091881
51	PIM2	0.59807153
52	EPHB2	0.59633910
53	CSNK1G3	0.58379771
54	PRKD3	0.57059676
55	EPHA4	0.56510483
56	NEK6	0.55969776
57	NUAK1	0.55227070
58	INSRR	0.54737347
59	WNK3	0.54216925
60	BCKDK	0.54084517
61	CAMKK1	0.53771088
62	CAMK2G	0.53022756
63	MAP3K2	0.52046876
64	MAP2K4	0.51424647
65	SRPK1	0.51166603
66	MST1R	0.49488132
67	MINK1	0.49004108
68	CSNK1A1L	0.47905376
69	ERBB2	0.47464399
70	ERBB3	0.45113877
71	ATR	0.43877661
72	ILK	0.42501146
73	PASK	0.41619443
74	RPS6KB2	0.41183819
75	MAP3K4	0.40967073
76	CSNK1G1	0.40057720
77	MAPKAPK5	0.40013227
78	STK10	0.38585282
79	PAK1	0.37245080
80	PRKCD	0.36848713
81	GRK1	0.36612448
82	ZAK	0.36136377
83	PRKCG	0.35883093
84	CAMKK2	0.35394382
85	CSK	0.34964063
86	PAK4	0.34118941
87	MAP3K3	0.33816812
88	AKT2	0.33481484
89	NEK2	0.33376431
90	PLK2	0.32584752
91	EPHB1	0.31964172
92	CSNK1E	0.31515694
93	CSNK2A1	0.30866908
94	CDK9	0.30584512
95	DYRK1A	0.30431232
96	CSNK2A2	0.30420404
97	MUSK	0.30343172
98	PRKACA	0.27305688
99	IRAK2	0.26679907
100	STK11	0.25587568

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Huntingtons disease_Homo sapiens_hsa05016	3.96091391
2	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	3.65690349
3	Oxidative phosphorylation_Homo sapiens_hsa00190	3.35210910
4	Ribosome_Homo sapiens_hsa03010	3.34053448
5	Phenylalanine metabolism_Homo sapiens_hsa00360	3.17115162
6	Chemical carcinogenesis_Homo sapiens_hsa05204	2.95704760
7	Parkinsons disease_Homo sapiens_hsa05012	2.69460683
8	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	2.69017998
9	Tyrosine metabolism_Homo sapiens_hsa00350	2.62198389
10	Glutathione metabolism_Homo sapiens_hsa00480	2.47766516
11	Histidine metabolism_Homo sapiens_hsa00340	2.39724240
12	Proteasome_Homo sapiens_hsa03050	2.17422157
13	beta-Alanine metabolism_Homo sapiens_hsa00410	2.05085081
14	Alzheimers disease_Homo sapiens_hsa05010	1.97741247
15	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.80029138
16	Cardiac muscle contraction_Homo sapiens_hsa04260	1.70693815
17	Mismatch repair_Homo sapiens_hsa03430	1.70233824
18	RNA polymerase_Homo sapiens_hsa03020	1.61533226
19	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	1.59499674
20	Retinol metabolism_Homo sapiens_hsa00830	1.56717819
21	Nucleotide excision repair_Homo sapiens_hsa03420	1.54659304
22	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.44150870
23	DNA replication_Homo sapiens_hsa03030	1.39550974
24	Protein export_Homo sapiens_hsa03060	1.38879148
25	Base excision repair_Homo sapiens_hsa03410	1.34468723
26	Pyruvate metabolism_Homo sapiens_hsa00620	1.33486470
27	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.32499080
28	Sulfur relay system_Homo sapiens_hsa04122	1.32024757
29	Fatty acid degradation_Homo sapiens_hsa00071	1.31466307
30	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.30553340
31	Homologous recombination_Homo sapiens_hsa03440	1.30524739
32	Peroxisome_Homo sapiens_hsa04146	1.27309632
33	Caffeine metabolism_Homo sapiens_hsa00232	1.19380690
34	Pyrimidine metabolism_Homo sapiens_hsa00240	1.16042526
35	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.13898073
36	Basal cell carcinoma_Homo sapiens_hsa05217	1.13144065
37	Steroid biosynthesis_Homo sapiens_hsa00100	1.12155688
38	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	1.10970301
39	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.09203629
40	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.00311834
41	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.98660231
42	Folate biosynthesis_Homo sapiens_hsa00790	0.97055690
43	Fanconi anemia pathway_Homo sapiens_hsa03460	0.96935694
44	Spliceosome_Homo sapiens_hsa03040	0.94683907
45	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.93920996
46	Metabolic pathways_Homo sapiens_hsa01100	0.91616851
47	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.90681170
48	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.90426151
49	Purine metabolism_Homo sapiens_hsa00230	0.90110128
50	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.88279686
51	Tight junction_Homo sapiens_hsa04530	0.86669457
52	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.82877522
53	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.82548867
54	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.79558794
55	Fatty acid elongation_Homo sapiens_hsa00062	0.78770626
56	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.77894825
57	Arginine and proline metabolism_Homo sapiens_hsa00330	0.77850358
58	Linoleic acid metabolism_Homo sapiens_hsa00591	0.77199502
59	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.75205275
60	Propanoate metabolism_Homo sapiens_hsa00640	0.72699222
61	Collecting duct acid secretion_Homo sapiens_hsa04966	0.70778355
62	Basal transcription factors_Homo sapiens_hsa03022	0.68554310
63	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	0.62450931
64	Notch signaling pathway_Homo sapiens_hsa04330	0.61727039
65	Sphingolipid metabolism_Homo sapiens_hsa00600	0.59687061
66	Hippo signaling pathway_Homo sapiens_hsa04390	0.58236901
67	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.58213771
68	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.57747983
69	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.57270009
70	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	0.55725053
71	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.52965103
72	Butanoate metabolism_Homo sapiens_hsa00650	0.51341381
73	RNA transport_Homo sapiens_hsa03013	0.46512878
74	Cyanoamino acid metabolism_Homo sapiens_hsa00460	0.46104809
75	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.45899874
76	Tryptophan metabolism_Homo sapiens_hsa00380	0.45335609
77	Nicotine addiction_Homo sapiens_hsa05033	0.44379819
78	Carbon metabolism_Homo sapiens_hsa01200	0.43471695
79	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.43217576
80	RNA degradation_Homo sapiens_hsa03018	0.43204528
81	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.41435043
82	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.38928366
83	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.38780122
84	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.37110714
85	Phototransduction_Homo sapiens_hsa04744	0.36874712
86	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.36766159
87	Vibrio cholerae infection_Homo sapiens_hsa05110	0.36196126
88	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.34311734
89	Olfactory transduction_Homo sapiens_hsa04740	0.30131609
90	Cell cycle_Homo sapiens_hsa04110	0.29987833
91	p53 signaling pathway_Homo sapiens_hsa04115	0.28082055
92	Fatty acid metabolism_Homo sapiens_hsa01212	0.27278674
93	Axon guidance_Homo sapiens_hsa04360	0.25549527
94	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.24874716
95	Wnt signaling pathway_Homo sapiens_hsa04310	0.24601231
96	Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141	0.23518320
97	mRNA surveillance pathway_Homo sapiens_hsa03015	0.22967855
98	Non-homologous end-joining_Homo sapiens_hsa03450	0.22237436
99	Salivary secretion_Homo sapiens_hsa04970	0.21451530
100	Cocaine addiction_Homo sapiens_hsa05030	0.17953965

C9ORF116

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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