ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	axoneme assembly (GO:0035082)	9.42610007
2	left/right pattern formation (GO:0060972)	8.57831961
3	regulation of cilium movement (GO:0003352)	7.21258054
4	primary alcohol catabolic process (GO:0034310)	7.19350017
5	left/right axis specification (GO:0070986)	6.63452966
6	ventricular system development (GO:0021591)	6.27109654
7	ethanol metabolic process (GO:0006067)	5.99336445
8	vitamin transmembrane transport (GO:0035461)	5.90468802
9	microtubule bundle formation (GO:0001578)	5.82290575
10	intraciliary transport (GO:0042073)	5.55803046
11	cilium organization (GO:0044782)	5.27014024
12	one-carbon compound transport (GO:0019755)	5.13451769
13	cilium assembly (GO:0042384)	5.09108524
14	diterpenoid biosynthetic process (GO:0016102)	5.08631429
15	negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	5.06188610
16	ethanol oxidation (GO:0006069)	4.73590740
17	glomerular epithelial cell development (GO:0072310)	4.59403558
18	sperm capacitation (GO:0048240)	4.55026554
19	lung epithelium development (GO:0060428)	4.37506236
20	keratan sulfate catabolic process (GO:0042340)	4.35461977
21	centriole assembly (GO:0098534)	4.31151946
22	regulation of microtubule-based movement (GO:0060632)	4.26774832
23	protein localization to cilium (GO:0061512)	4.26386348
24	response to xenobiotic stimulus (GO:0009410)	4.25077884
25	pyrimidine-containing compound transmembrane transport (GO:0072531)	4.22521519
26	tolerance induction (GO:0002507)	4.21511138
27	negative regulation of T cell differentiation in thymus (GO:0033085)	4.14267481
28	thyroid hormone generation (GO:0006590)	4.14235977
29	cellular component assembly involved in morphogenesis (GO:0010927)	4.13890947
30	negative regulation of humoral immune response (GO:0002921)	4.11620626
31	microtubule-based movement (GO:0007018)	4.03629394
32	regulation of interleukin-5 production (GO:0032674)	3.99984683
33	cilium morphogenesis (GO:0060271)	3.93997719
34	establishment of apical/basal cell polarity (GO:0035089)	3.89003275
35	negative regulation of inclusion body assembly (GO:0090084)	3.86675881
36	regulation of interleukin-13 production (GO:0032656)	3.72445756
37	cell projection assembly (GO:0030031)	3.71941805
38	negative regulation of immunoglobulin mediated immune response (GO:0002890)	3.68391909
39	negative regulation of B cell mediated immunity (GO:0002713)	3.68391909
40	retinoic acid metabolic process (GO:0042573)	3.67395024
41	regulation of germinal center formation (GO:0002634)	3.60897736
42	thyroid hormone metabolic process (GO:0042403)	3.48495899
43	regulation of inclusion body assembly (GO:0090083)	3.47649231
44	lateral ventricle development (GO:0021670)	3.45903499
45	positive regulation of tolerance induction (GO:0002645)	3.44563076
46	terpenoid biosynthetic process (GO:0016114)	3.37939525
47	establishment of monopolar cell polarity (GO:0061162)	3.34308225
48	establishment or maintenance of monopolar cell polarity (GO:0061339)	3.34308225
49	primary alcohol metabolic process (GO:0034308)	3.29481378
50	hydrogen peroxide biosynthetic process (GO:0050665)	3.27727850
51	microtubule polymerization or depolymerization (GO:0031109)	3.22346592
52	sperm motility (GO:0030317)	3.20986872
53	positive regulation of smoothened signaling pathway (GO:0045880)	3.20703202
54	retinol metabolic process (GO:0042572)	3.20637091
55	cytoplasmic microtubule organization (GO:0031122)	3.20246305
56	nucleoside diphosphate phosphorylation (GO:0006165)	3.18576534
57	glutathione derivative biosynthetic process (GO:1901687)	3.13889498
58	glutathione derivative metabolic process (GO:1901685)	3.13889498
59	hydrogen peroxide catabolic process (GO:0042744)	3.08692429
60	establishment of planar polarity (GO:0001736)	3.06381507
61	establishment of tissue polarity (GO:0007164)	3.06381507
62	microtubule depolymerization (GO:0007019)	2.98406548
63	peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	2.90772479
64	reactive oxygen species biosynthetic process (GO:1903409)	2.86685754
65	O-glycan processing (GO:0016266)	2.79740059
66	exogenous drug catabolic process (GO:0042738)	2.76545493
67	multicellular organismal water homeostasis (GO:0050891)	2.76026905
68	embryonic camera-type eye development (GO:0031076)	2.71416933
69	carnitine metabolic process (GO:0009437)	2.71218672
70	regulation of apoptotic cell clearance (GO:2000425)	2.70697216
71	polyol transport (GO:0015791)	2.69840616
72	phenol-containing compound catabolic process (GO:0019336)	2.65388250
73	hydrogen peroxide metabolic process (GO:0042743)	2.64285671
74	keratan sulfate biosynthetic process (GO:0018146)	2.59640068
75	determination of left/right symmetry (GO:0007368)	2.58385085
76	aldehyde catabolic process (GO:0046185)	2.57894752
77	lateral sprouting from an epithelium (GO:0060601)	2.57620057
78	excretion (GO:0007588)	2.55901440
79	retinal rod cell development (GO:0046548)	2.55563716
80	oligosaccharide biosynthetic process (GO:0009312)	2.55162065
81	smoothened signaling pathway (GO:0007224)	2.54696158
82	extracellular fibril organization (GO:0043206)	2.53088971
83	phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)	2.50026448
84	determination of bilateral symmetry (GO:0009855)	2.49619681
85	metanephric mesenchyme development (GO:0072075)	2.49170856
86	regulation of tolerance induction (GO:0002643)	2.47514264
87	specification of symmetry (GO:0009799)	2.46693022
88	regulation of microtubule depolymerization (GO:0031114)	2.46308999
89	phosphatidylcholine biosynthetic process (GO:0006656)	2.45754029
90	apical protein localization (GO:0045176)	2.45406253
91	progesterone metabolic process (GO:0042448)	2.41525966
92	heart looping (GO:0001947)	2.41486695
93	regulation of autophagic vacuole assembly (GO:2000785)	2.40564879
94	regulation of toll-like receptor 4 signaling pathway (GO:0034143)	2.39961702
95	axonemal dynein complex assembly (GO:0070286)	19.2267115
96	cilium or flagellum-dependent cell motility (GO:0001539)	16.2645703
97	cilium movement (GO:0003341)	14.1468550
98	motile cilium assembly (GO:0044458)	13.2254718
99	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	12.7022461
100	epithelial cilium movement (GO:0003351)	12.1701391

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	5.55362132
2	TRIM28_21343339_ChIP-Seq_HEK293_Human	3.50910360
3	DROSHA_22980978_ChIP-Seq_HELA_Human	3.44272555
4	TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse	2.75576523
5	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.73715285
6	FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	2.43520335
7	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	2.38015544
8	ESR2_21235772_ChIP-Seq_MCF-7_Human	1.94553797
9	SMC4_20622854_ChIP-Seq_HELA_Human	1.83196324
10	RAD21_21589869_ChIP-Seq_MESCs_Mouse	1.79811181
11	PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse	1.76536399
12	TFAP2C_20629094_ChIP-Seq_MCF-7_Human	1.68242767
13	ESR1_21235772_ChIP-Seq_MCF-7_Human	1.63361510
14	ESR1_20079471_ChIP-ChIP_T-47D_Human	1.62397314
15	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.55333670
16	STAT1_20625510_ChIP-Seq_HELA_Human	1.55183187
17	AHR_22903824_ChIP-Seq_MCF-7_Human	1.51136127
18	RUNX1_27514584_Chip-Seq_MCF-7_Human	1.48034567
19	MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human	1.43995346
20	CTCF_27219007_Chip-Seq_Bcells_Human	1.41584813
21	TP63_22573176_ChIP-Seq_HFKS_Human	1.40108936
22	ELF1_20517297_ChIP-Seq_JURKAT_Human	1.40037096
23	RARG_19884340_ChIP-ChIP_MEFs_Mouse	1.39132038
24	SOX9_24532713_ChIP-Seq_HFSC_Mouse	1.38260617
25	SMAD2/3_21741376_ChIP-Seq_ESCs_Human	1.37927666
26	FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human	1.37586214
27	ESR1_22446102_ChIP-Seq_UTERUS_Mouse	1.34292500
28	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.33314393
29	P63_26484246_Chip-Seq_KERATINOCYTES_Human	1.32903227
30	ARNT_22903824_ChIP-Seq_MCF-7_Human	1.30976877
31	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.30252929
32	TP53_18474530_ChIP-ChIP_U2OS_Human	1.28628393
33	SOX2_27498859_Chip-Seq_STOMACH_Mouse	1.28331643
34	KLF5_25053715_ChIP-Seq_YYC3_Human	1.26814993
35	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	1.25922032
36	CLOCK_20551151_ChIP-Seq_293T_Human	1.25705718
37	ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.24126141
38	TP63_23658742_ChIP-Seq_EP156T_Human	1.21072797
39	AR_21572438_ChIP-Seq_LNCaP_Human	1.19816423
40	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.19459913
41	TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	1.19410956
42	TDRD3_21172665_ChIP-Seq_MCF-7_Human	1.18066862
43	CDX2_21074721_ChIP-Seq_CACO-2_Mouse	1.17257006
44	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	1.16585495
45	* ETV1_20927104_ChIP-Seq_GIST48_Human	1.14480285
46	CTCF_20526341_ChIP-Seq_ESCs_Human	1.14274105
47	P68_20966046_ChIP-Seq_HELA_Human	1.13539004
48	THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse	1.13189192
49	ZNF217_24962896_ChIP-Seq_MCF-7_Human	1.12988550
50	SUZ12_20075857_ChIP-Seq_MESCs_Mouse	1.12751569
51	AR_21915096_ChIP-Seq_LNCaP-1F5_Human	1.12522104
52	PHF8_20622853_ChIP-Seq_HELA_Human	1.12317669
53	LXR_22292898_ChIP-Seq_THP-1_Human	1.11879211
54	HNFA_21074721_ChIP-Seq_CACO-2_Human	1.09196519
55	SOX2_20726797_ChIP-Seq_SW620_Human	1.07546537
56	* PCGF4_22325352_ChIP-Seq_293T-Rex_Human	1.07340284
57	SMRT_27268052_Chip-Seq_Bcells_Human	1.03912474
58	GATA1_19941826_ChIP-Seq_K562_Human	1.03086443
59	FOXM1_26456572_ChIP-Seq_MCF-7_Human	1.02933922
60	SUZ12_27294783_Chip-Seq_ESCs_Mouse	1.02609577
61	CTNNB1_20460455_ChIP-Seq_HCT116_Human	1.02354010
62	SMAD3_22036565_ChIP-Seq_ESCs_Mouse	1.02280816
63	YY1_22570637_ChIP-Seq_MALME-3M_Human	1.02069754
64	VDR_22108803_ChIP-Seq_LS180_Human	1.01769461
65	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.01031602
66	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	1.00291846
67	EBNA1_20929547_Chip-Seq_RAJI-cells_Human	0.98657600
68	BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human	0.98416125
69	TOP2B_26459242_ChIP-Seq_MCF-7_Human	0.97569444
70	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.96708881
71	MTF2_20144788_ChIP-Seq_MESCs_Mouse	0.96648150
72	SMAD3_21741376_ChIP-Seq_HESCs_Human	0.95117384
73	EP300_21415370_ChIP-Seq_HL-1_Mouse	0.94827053
74	TBX20_22080862_ChIP-Seq_HEART_Mouse	0.94599135
75	TBX20_22328084_ChIP-Seq_HEART_Mouse	0.94599135
76	FOXA1_25552417_ChIP-Seq_VCAP_Human	0.94447081
77	GATA6_21074721_ChIP-Seq_CACO-2_Human	0.93680627
78	* RBPJ_21746931_ChIP-Seq_IB4_Human	0.93515342
79	RACK7_27058665_Chip-Seq_MCF-7_Human	0.93283951
80	CDX2_20551321_ChIP-Seq_CACO-2_Human	0.92926106
81	CREB1_26743006_Chip-Seq_LNCaP_Human	0.92573047
82	CREB1_26743006_Chip-Seq_LNCaP-abl_Human	0.91993246
83	SUZ12_18974828_ChIP-Seq_MESCs_Mouse	0.91609343
84	SA1_27219007_Chip-Seq_ERYTHROID_Human	0.91434750
85	KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human	0.91286498
86	TBL1_22424771_ChIP-Seq_293T_Human	0.90693665
87	SA1_27219007_Chip-Seq_Bcells_Human	0.90605692
88	PHF8_20622854_ChIP-Seq_HELA_Human	0.90322380
89	WT1_25993318_ChIP-Seq_PODOCYTE_Human	0.89810003
90	NFYA_21822215_ChIP-Seq_K562_Human	0.89661158
91	GATA6_21074721_ChIP-Seq_CACO-2_Mouse	0.89383711
92	NFIB_24661679_ChIP-Seq_LUNG_Mouse	0.89072778
93	* CBX2_22325352_ChIP-Seq_293T-Rex_Human	0.88670859
94	FOXA2_19822575_ChIP-Seq_HepG2_Human	0.88482018
95	SOX2_21211035_ChIP-Seq_LN229_Human	0.88355826
96	EED_16625203_ChIP-ChIP_MESCs_Mouse	0.88111349
97	MYC_27129775_Chip-Seq_CORNEA_Mouse	0.87206361
98	NFYB_21822215_ChIP-Seq_K562_Human	0.85664453
99	SMC3_22415368_ChIP-Seq_MEFs_Mouse	0.85278616
100	SMAD4_21741376_ChIP-Seq_HESCs_Human	0.83313751

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0005503_abnormal_tendon_morphology	5.71466033
2	MP0008875_abnormal_xenobiotic_pharmacok	5.60976531
3	MP0002653_abnormal_ependyma_morphology	5.45092420
4	MP0002132_abnormal_respiratory_system	4.05210613
5	MP0004043_abnormal_pH_regulation	3.65940842
6	MP0001984_abnormal_olfaction	3.46958088
7	MP0005623_abnormal_meninges_morphology	3.20244095
8	MP0009780_abnormal_chondrocyte_physiolo	3.13587956
9	MP0000566_synostosis	2.96826589
10	MP0004133_heterotaxia	2.61046429
11	MP0005275_abnormal_skin_tensile	2.58330867
12	MP0005377_hearing/vestibular/ear_phenot	2.52517715
13	MP0003878_abnormal_ear_physiology	2.52517715
14	MP0002282_abnormal_trachea_morphology	2.36069559
15	MP0002277_abnormal_respiratory_mucosa	2.27216915
16	MP0008789_abnormal_olfactory_epithelium	2.24881872
17	MP0010030_abnormal_orbit_morphology	2.17870698
18	MP0004019_abnormal_vitamin_homeostasis	2.12583262
19	MP0000751_myopathy	2.01152819
20	MP0002249_abnormal_larynx_morphology	2.00955565
21	MP0002108_abnormal_muscle_morphology	1.96495740
22	MP0000681_abnormal_thyroid_gland	1.91516259
23	MP0002876_abnormal_thyroid_physiology	1.82026393
24	MP0002933_joint_inflammation	1.68231869
25	MP0002638_abnormal_pupillary_reflex	1.65240578
26	MP0000383_abnormal_hair_follicle	1.58705577
27	MP0002168_other_aberrant_phenotype	1.55973459
28	MP0005508_abnormal_skeleton_morphology	1.51852141
29	MP0005083_abnormal_biliary_tract	1.39959673
30	MP0000678_abnormal_parathyroid_gland	1.36075057
31	MP0005394_taste/olfaction_phenotype	1.35870685
32	MP0005499_abnormal_olfactory_system	1.35870685
33	MP0001879_abnormal_lymphatic_vessel	1.27751348
34	MP0001765_abnormal_ion_homeostasis	1.27645385
35	MP0003279_aneurysm	1.24160734
36	MP0010368_abnormal_lymphatic_system	1.20955215
37	MP0003646_muscle_fatigue	1.19295201
38	MP0010678_abnormal_skin_adnexa	1.16997972
39	MP0001485_abnormal_pinna_reflex	1.10023997
40	MP0005164_abnormal_response_to	1.09927026
41	MP0009379_abnormal_foot_pigmentation	1.09658371
42	MP0002909_abnormal_adrenal_gland	1.05932538
43	MP0005165_increased_susceptibility_to	1.05630560
44	MP0004883_abnormal_blood_vessel	1.02085332
45	MP0003329_amyloid_beta_deposits	1.01131972
46	MP0001958_emphysema	0.97315703
47	MP0000163_abnormal_cartilage_morphology	0.94707642
48	MP0002295_abnormal_pulmonary_circulatio	0.90761208
49	MP0002160_abnormal_reproductive_system	0.89769766
50	MP0002233_abnormal_nose_morphology	0.87405528
51	MP0003011_delayed_dark_adaptation	0.86688813
52	MP0005390_skeleton_phenotype	0.84864194
53	MP0005388_respiratory_system_phenotype	0.84863144
54	MP0002133_abnormal_respiratory_system	0.84863144
55	MP0005248_abnormal_Harderian_gland	0.84519092
56	MP0000049_abnormal_middle_ear	0.83561273
57	MP0005395_other_phenotype	0.82240825
58	MP0003656_abnormal_erythrocyte_physiolo	0.80575118
59	MP0005365_abnormal_bile_salt	0.80404797
60	MP0002932_abnormal_joint_morphology	0.80124380
61	MP0001502_abnormal_circadian_rhythm	0.79977356
62	MP0000026_abnormal_inner_ear	0.77733616
63	MP0009384_cardiac_valve_regurgitation	0.76001178
64	MP0000465_gastrointestinal_hemorrhage	0.75858780
65	MP0001299_abnormal_eye_distance/	0.75472104
66	MP0002734_abnormal_mechanical_nocicepti	0.74132590
67	MP0009643_abnormal_urine_homeostasis	0.72880159
68	MP0005023_abnormal_wound_healing	0.72630682
69	MP0005636_abnormal_mineral_homeostasis	0.71020463
70	MP0000249_abnormal_blood_vessel	0.70970623
71	MP0001346_abnormal_lacrimal_gland	0.70094725
72	MP0003698_abnormal_male_reproductive	0.69884605
73	MP0002896_abnormal_bone_mineralization	0.65938101
74	MP0002116_abnormal_craniofacial_bone	0.65512722
75	MP0002735_abnormal_chemical_nociception	0.65275317
76	MP0002115_abnormal_skeleton_extremities	0.61117981
77	MP0001963_abnormal_hearing_physiology	0.60893751
78	MP0002136_abnormal_kidney_physiology	0.60224731
79	MP0003724_increased_susceptibility_to	0.59238283
80	MP0004885_abnormal_endolymph	0.57652236
81	MP0009046_muscle_twitch	0.57000005
82	MP0001929_abnormal_gametogenesis	0.56486974
83	MP0006138_congestive_heart_failure	0.55814343
84	MP0005410_abnormal_fertilization	0.55020182
85	MP0001270_distended_abdomen	0.53992055
86	MP0005253_abnormal_eye_physiology	0.53024267
87	MP0005167_abnormal_blood-brain_barrier	0.50705002
88	MP0005551_abnormal_eye_electrophysiolog	0.50307442
89	MP0003938_abnormal_ear_development	0.50003717
90	MP0004782_abnormal_surfactant_physiolog	0.49684767
91	MP0001849_ear_inflammation	0.47482720
92	MP0003879_abnormal_hair_cell	0.47391542
93	MP0003942_abnormal_urinary_system	0.47284298
94	MP0008004_abnormal_stomach_pH	0.45915384
95	MP0002109_abnormal_limb_morphology	0.45431484
96	MP0002972_abnormal_cardiac_muscle	0.45392317
97	MP0001970_abnormal_pain_threshold	0.45374369
98	MP0002090_abnormal_vision	0.45340994
99	MP0003075_altered_response_to	0.42625988
100	MP0003950_abnormal_plasma_membrane	0.41495863

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Rhinitis (HP:0012384)	9.85809432
2	Chronic bronchitis (HP:0004469)	7.59744245
3	Bronchiectasis (HP:0002110)	6.98562228
4	Nasal polyposis (HP:0100582)	6.71090920
5	Abnormality of the nasal mucosa (HP:0000433)	5.82815088
6	Bronchitis (HP:0012387)	4.36110413
7	Infertility (HP:0000789)	4.15888351
8	Recurrent sinusitis (HP:0011108)	4.14376104
9	Chronic sinusitis (HP:0011109)	4.06886740
10	Male infertility (HP:0003251)	3.76302672
11	Recurrent otitis media (HP:0000403)	3.71125936
12	Occipital encephalocele (HP:0002085)	3.58368647
13	Atelectasis (HP:0100750)	3.29618553
14	True hermaphroditism (HP:0010459)	3.25934923
15	Pancreatic fibrosis (HP:0100732)	3.20907236
16	Hyperactive renin-angiotensin system (HP:0000841)	2.98699594
17	Cystic liver disease (HP:0006706)	2.73625787
18	Chronic otitis media (HP:0000389)	2.66971769
19	Molar tooth sign on MRI (HP:0002419)	2.58555935
20	Abnormality of midbrain morphology (HP:0002418)	2.58555935
21	Nephronophthisis (HP:0000090)	2.56439458
22	Pancreatic cysts (HP:0001737)	2.43520393
23	Chronic hepatic failure (HP:0100626)	2.25788194
24	Postaxial foot polydactyly (HP:0001830)	2.22247903
25	Bell-shaped thorax (HP:0001591)	2.19804390
26	Tubulointerstitial nephritis (HP:0001970)	2.17188271
27	Recurrent bronchitis (HP:0002837)	2.13612155
28	Abnormality of the renal medulla (HP:0100957)	2.01872613
29	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	12.1753838
30	Abnormal respiratory epithelium morphology (HP:0012253)	10.7989310
31	Abnormal respiratory motile cilium morphology (HP:0005938)	10.7989310
32	Abnormal respiratory motile cilium physiology (HP:0012261)	10.6780421
33	Abnormal ciliary motility (HP:0012262)	10.5247190
34	Dynein arm defect of respiratory motile cilia (HP:0012255)	10.5064662
35	Absent/shortened dynein arms (HP:0200106)	10.5064662
36	Congenital hepatic fibrosis (HP:0002612)	1.92279484
37	Absent frontal sinuses (HP:0002688)	1.86711871
38	Aplasia/Hypoplasia of the tongue (HP:0010295)	1.86118003
39	Hyperkalemia (HP:0002153)	1.84538247
40	Male pseudohermaphroditism (HP:0000037)	1.79967405
41	Anencephaly (HP:0002323)	1.78874470
42	Decreased circulating renin level (HP:0003351)	1.76016096
43	Medial flaring of the eyebrow (HP:0010747)	1.74183661
44	Renal salt wasting (HP:0000127)	1.72177548
45	Congenital primary aphakia (HP:0007707)	1.68173561
46	Gait imbalance (HP:0002141)	1.65945906
47	Carpal bone hypoplasia (HP:0001498)	1.65422609
48	Tubular atrophy (HP:0000092)	1.64787493
49	Muscle fiber splitting (HP:0003555)	1.63636534
50	Nephropathy (HP:0000112)	1.60474883
51	Obstructive sleep apnea (HP:0002870)	1.56921513
52	Epiphyseal dysplasia (HP:0002656)	1.56327908
53	Asplenia (HP:0001746)	1.53418163
54	Aplasia/Hypoplasia of the spleen (HP:0010451)	1.53065401
55	Hyperaldosteronism (HP:0000859)	1.47406357
56	Short femoral neck (HP:0100864)	1.47378499
57	Spinal cord compression (HP:0002176)	1.46348707
58	Postaxial hand polydactyly (HP:0001162)	1.45895586
59	Nephrogenic diabetes insipidus (HP:0009806)	1.43236276
60	Sclerocornea (HP:0000647)	1.43029519
61	Oculomotor apraxia (HP:0000657)	1.40784102
62	Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)	1.38966809
63	Abnormality of permanent molar morphology (HP:0011071)	1.38135245
64	Abnormality of the dental root (HP:0006486)	1.38135245
65	Taurodontia (HP:0000679)	1.38135245
66	Furrowed tongue (HP:0000221)	1.35194355
67	Aplasia/Hypoplasia involving the femoral head and neck (HP:0009108)	1.34104983
68	Abnormality of molar (HP:0011077)	1.33645916
69	Abnormality of molar morphology (HP:0011070)	1.33645916
70	Abnormality of renin-angiotensin system (HP:0000847)	1.32921358
71	Complement deficiency (HP:0004431)	1.31752676
72	Abnormality of chloride homeostasis (HP:0011422)	1.31073339
73	Short thorax (HP:0010306)	1.28039822
74	Stage 5 chronic kidney disease (HP:0003774)	1.27572082
75	Abnormality of the dental pulp (HP:0006479)	1.26035099
76	Short nail (HP:0001799)	1.24636055
77	Glucose intolerance (HP:0000833)	1.23136007
78	Tubulointerstitial abnormality (HP:0001969)	1.22215552
79	Hypokalemic alkalosis (HP:0001949)	1.20724125
80	Bifid scrotum (HP:0000048)	1.20593145
81	Median cleft lip (HP:0000161)	1.20485892
82	Ulnar deviation of the wrist (HP:0003049)	1.19192974
83	Vaginal atresia (HP:0000148)	1.16986744
84	Abnormality of the distal phalanges of the toes (HP:0010182)	1.16894974
85	Genital tract atresia (HP:0001827)	1.15728363
86	Poor coordination (HP:0002370)	1.15618031
87	Pulmonary artery stenosis (HP:0004415)	1.11099996
88	Abnormality of dentin (HP:0010299)	1.10864003
89	Beaking of vertebral bodies (HP:0004568)	1.09834833
90	Hyponatremia (HP:0002902)	1.09600536
91	Sleep apnea (HP:0010535)	1.09272754
92	Renal dysplasia (HP:0000110)	1.08591514
93	Small epiphyses (HP:0010585)	1.07580427
94	Hypoplasia of the odontoid process (HP:0003311)	1.07498365
95	Vascular tortuosity (HP:0004948)	1.07235832
96	Aplasia/Hypoplasia involving the sinuses (HP:0009120)	1.06817979
97	Abnormality of the frontal sinuses (HP:0002687)	1.06599406
98	Cone-rod dystrophy (HP:0000548)	1.05935311
99	Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)	1.05873961
100	Preaxial hand polydactyly (HP:0001177)	1.05241978

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	EPHA2	4.20687440
2	MST4	4.18925524
3	MAPKAPK3	2.62405972
4	PTK2B	2.18792111
5	MAPK15	11.6248862
6	TESK1	1.87592267
7	MAP3K2	1.82989806
8	NME1	1.75340509
9	MAP3K3	1.71128948
10	PNCK	1.68431163
11	RIPK1	1.68007685
12	SMG1	1.52566159
13	STK24	1.48000950
14	EPHB1	1.42201798
15	EEF2K	1.37822217
16	CSK	1.30439214
17	TTK	1.27745765
18	MARK2	1.25862977
19	MYLK	1.24830391
20	BCR	1.22473961
21	MAP3K7	1.19353635
22	LRRK2	1.15087526
23	EPHA3	1.14161639
24	TRIB3	1.09494269
25	TIE1	0.93593766
26	TBK1	0.89332275
27	STK38	0.88202844
28	INSRR	0.85891448
29	PAK4	0.82820842
30	ARAF	0.80851199
31	NLK	0.80712049
32	CAMKK1	0.78201208
33	CAMK2G	0.77329142
34	ERBB2	0.75422804
35	NEK6	0.75105426
36	ERN1	0.74770222
37	MUSK	0.68795825
38	TRPM7	0.67247348
39	MST1R	0.63501783
40	PRKAA2	0.62915694
41	HIPK2	0.59322034
42	MAP3K6	0.57941928
43	STK10	0.56119461
44	ROCK2	0.55939138
45	DYRK1B	0.55727353
46	PRKD3	0.53400326
47	STK38L	0.51672024
48	SGK1	0.49945624
49	TGFBR2	0.49712403
50	RIPK4	0.49267979
51	ILK	0.49260054
52	ROCK1	0.49209811
53	MAP3K12	0.48472752
54	TLK1	0.47942487
55	STK16	0.47488392
56	CDK12	0.45568556
57	MAP2K2	0.45188295
58	CDC42BPA	0.45053608
59	MET	0.44285611
60	PRKCI	0.44123868
61	PRKCD	0.42639253
62	PDPK1	0.40807591
63	RPS6KA2	0.40575929
64	PRKCQ	0.40497011
65	PRKACA	0.39060714
66	CAMKK2	0.34551367
67	PRKD2	0.33816508
68	ABL2	0.33501921
69	RET	0.32104865
70	ADRBK1	0.31993077
71	LATS1	0.31909619
72	SGK494	0.31855788
73	SGK223	0.31855788
74	EPHA4	0.31681002
75	PRKD1	0.30354189
76	PRKG1	0.29567675
77	CAMK2A	0.29410514
78	PRKCA	0.29174790
79	PRKCZ	0.28958917
80	DMPK	0.28728841
81	ERBB3	0.28699189
82	PIM2	0.28381596
83	PRKG2	0.27998328
84	FER	0.25531478
85	MAPK13	0.25325086
86	CAMK1G	0.25055445
87	UHMK1	0.23984166
88	GRK1	0.23743568
89	MAPKAPK5	0.23711422
90	MAP3K4	0.23216410
91	SRC	0.22877074
92	PINK1	0.21516171
93	IRAK1	0.21389526
94	MAP3K11	0.21278854
95	TAOK1	0.21119613
96	SGK2	0.21068089
97	PAK1	0.21036619
98	CAMK1	0.20406698
99	FYN	0.20250621
100	OBSCN	0.18896359

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	5.05691101
2	Phenylalanine metabolism_Homo sapiens_hsa00360	4.73661758
3	Histidine metabolism_Homo sapiens_hsa00340	4.24068937
4	Chemical carcinogenesis_Homo sapiens_hsa05204	4.07594702
5	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	3.98102686
6	Tyrosine metabolism_Homo sapiens_hsa00350	3.97468282
7	beta-Alanine metabolism_Homo sapiens_hsa00410	2.78814520
8	Glutathione metabolism_Homo sapiens_hsa00480	2.78160277
9	Huntingtons disease_Homo sapiens_hsa05016	2.41925105
10	Retinol metabolism_Homo sapiens_hsa00830	2.03489821
11	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	1.81598965
12	Linoleic acid metabolism_Homo sapiens_hsa00591	1.76569812
13	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.71239208
14	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	1.62377767
15	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	1.59013774
16	Caffeine metabolism_Homo sapiens_hsa00232	1.51510187
17	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.44532226
18	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.42852613
19	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	1.40306604
20	Tight junction_Homo sapiens_hsa04530	1.37231197
21	Circadian rhythm_Homo sapiens_hsa04710	1.28785720
22	Complement and coagulation cascades_Homo sapiens_hsa04610	1.28494399
23	Fatty acid degradation_Homo sapiens_hsa00071	1.27421400
24	ECM-receptor interaction_Homo sapiens_hsa04512	1.15400868
25	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.13886492
26	Cyanoamino acid metabolism_Homo sapiens_hsa00460	1.12591492
27	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.07674410
28	Salivary secretion_Homo sapiens_hsa04970	1.03680977
29	Sphingolipid metabolism_Homo sapiens_hsa00600	0.98084165
30	ABC transporters_Homo sapiens_hsa02010	0.91243891
31	Peroxisome_Homo sapiens_hsa04146	0.87525622
32	PPAR signaling pathway_Homo sapiens_hsa03320	0.87497325
33	Thyroid hormone synthesis_Homo sapiens_hsa04918	0.84120192
34	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.81434227
35	Taste transduction_Homo sapiens_hsa04742	0.79876074
36	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	0.79276931
37	Autoimmune thyroid disease_Homo sapiens_hsa05320	0.78980324
38	Notch signaling pathway_Homo sapiens_hsa04330	0.75272928
39	Basal cell carcinoma_Homo sapiens_hsa05217	0.74831011
40	Olfactory transduction_Homo sapiens_hsa04740	0.72545205
41	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.72493355
42	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.71532294
43	Phototransduction_Homo sapiens_hsa04744	0.68764919
44	Cocaine addiction_Homo sapiens_hsa05030	0.67758597
45	Staphylococcus aureus infection_Homo sapiens_hsa05150	0.67677672
46	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.66189012
47	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	0.65229483
48	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.63263054
49	Leukocyte transendothelial migration_Homo sapiens_hsa04670	0.59743057
50	Malaria_Homo sapiens_hsa05144	0.59264407
51	cAMP signaling pathway_Homo sapiens_hsa04024	0.58390242
52	Dilated cardiomyopathy_Homo sapiens_hsa05414	0.57276113
53	Gastric acid secretion_Homo sapiens_hsa04971	0.57155147
54	Adherens junction_Homo sapiens_hsa04520	0.57010474
55	Choline metabolism in cancer_Homo sapiens_hsa05231	0.55764027
56	Carbohydrate digestion and absorption_Homo sapiens_hsa04973	0.55340479
57	Prion diseases_Homo sapiens_hsa05020	0.55037505
58	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	0.54541632
59	Arginine and proline metabolism_Homo sapiens_hsa00330	0.51960129
60	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.51220770
61	Amoebiasis_Homo sapiens_hsa05146	0.50498481
62	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.49491196
63	Cardiac muscle contraction_Homo sapiens_hsa04260	0.49487368
64	Amphetamine addiction_Homo sapiens_hsa05031	0.49472291
65	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.46510337
66	Nicotine addiction_Homo sapiens_hsa05033	0.46342210
67	Protein digestion and absorption_Homo sapiens_hsa04974	0.45333421
68	Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923	0.42604111
69	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.41005320
70	Glycerolipid metabolism_Homo sapiens_hsa00561	0.38645741
71	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.38606218
72	Tryptophan metabolism_Homo sapiens_hsa00380	0.37234304
73	Calcium signaling pathway_Homo sapiens_hsa04020	0.34252049
74	Phagosome_Homo sapiens_hsa04145	0.33617524
75	Bile secretion_Homo sapiens_hsa04976	0.33278466
76	Axon guidance_Homo sapiens_hsa04360	0.32550919
77	Glycosaminoglycan degradation_Homo sapiens_hsa00531	0.32063006
78	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	0.31465771
79	Melanogenesis_Homo sapiens_hsa04916	0.30730206
80	Focal adhesion_Homo sapiens_hsa04510	0.30561039
81	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.29598252
82	Pancreatic secretion_Homo sapiens_hsa04972	0.29016466
83	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.28351000
84	Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141	0.28210478
85	Serotonergic synapse_Homo sapiens_hsa04726	0.26272546
86	Hematopoietic cell lineage_Homo sapiens_hsa04640	0.26205257
87	Hippo signaling pathway_Homo sapiens_hsa04390	0.25659091
88	Hepatitis C_Homo sapiens_hsa05160	0.25555682
89	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.24885718
90	Collecting duct acid secretion_Homo sapiens_hsa04966	0.24234192
91	Pertussis_Homo sapiens_hsa05133	0.21891164
92	Renin secretion_Homo sapiens_hsa04924	0.21588976
93	Nitrogen metabolism_Homo sapiens_hsa00910	0.21486139
94	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.20604156
95	Metabolic pathways_Homo sapiens_hsa01100	0.20342800
96	Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750	0.19729033
97	Wnt signaling pathway_Homo sapiens_hsa04310	0.19602013
98	Pyruvate metabolism_Homo sapiens_hsa00620	0.19003262
99	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.18310791
100	Endocytosis_Homo sapiens_hsa04144	0.18295047

C2ORF40

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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