ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	desmosome organization (GO:0002934)	9.46770718
2	establishment of skin barrier (GO:0061436)	9.19156232
3	regulation of water loss via skin (GO:0033561)	8.34681473
4	peptide cross-linking (GO:0018149)	7.42813004
5	keratinocyte differentiation (GO:0030216)	7.42785398
6	multicellular organismal water homeostasis (GO:0050891)	6.96133928
7	epidermal cell differentiation (GO:0009913)	6.00516137
8	water homeostasis (GO:0030104)	5.86613134
9	bundle of His cell to Purkinje myocyte communication (GO:0086069)	5.66185463
10	cilium or flagellum-dependent cell motility (GO:0001539)	5.39259645
11	axonemal dynein complex assembly (GO:0070286)	5.34380739
12	epidermis development (GO:0008544)	4.81998712
13	hair cycle (GO:0042633)	4.67159538
14	molting cycle (GO:0042303)	4.67159538
15	primary alcohol catabolic process (GO:0034310)	4.66361939
16	keratinocyte proliferation (GO:0043616)	4.65063149
17	one-carbon compound transport (GO:0019755)	4.27305421
18	ethanol metabolic process (GO:0006067)	4.25225804
19	cilium movement (GO:0003341)	4.21775341
20	flavonoid metabolic process (GO:0009812)	4.09195740
21	transepithelial transport (GO:0070633)	3.93866225
22	intestinal epithelial cell development (GO:0060576)	3.92432344
23	keratinocyte development (GO:0003334)	3.91869636
24	cellular ketone body metabolic process (GO:0046950)	3.90289528
25	vitamin transmembrane transport (GO:0035461)	3.86235267
26	establishment of tissue polarity (GO:0007164)	3.74758842
27	establishment of planar polarity (GO:0001736)	3.74758842
28	sphingoid metabolic process (GO:0046519)	3.72944302
29	negative regulation of keratinocyte proliferation (GO:0010839)	3.71404298
30	apical protein localization (GO:0045176)	3.67071829
31	surfactant homeostasis (GO:0043129)	3.66385584
32	regulation of ruffle assembly (GO:1900027)	3.66154003
33	ectoderm development (GO:0007398)	3.59400491
34	motile cilium assembly (GO:0044458)	3.49178955
35	phenylpropanoid metabolic process (GO:0009698)	3.48208830
36	axoneme assembly (GO:0035082)	3.43315986
37	lung epithelium development (GO:0060428)	3.43163883
38	epithelial cilium movement (GO:0003351)	3.38466555
39	ketone body metabolic process (GO:1902224)	3.37481790
40	regulation of memory T cell differentiation (GO:0043380)	3.30582930
41	retinoic acid metabolic process (GO:0042573)	3.29201533
42	diol metabolic process (GO:0034311)	3.26152552
43	chemical homeostasis within a tissue (GO:0048875)	3.24472763
44	regulation of hippo signaling (GO:0035330)	3.22079025
45	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.21892907
46	ethanol oxidation (GO:0006069)	3.17051747
47	regulation of interleukin-5 production (GO:0032674)	3.16464377
48	retinol metabolic process (GO:0042572)	3.15239429
49	epoxygenase P450 pathway (GO:0019373)	3.13358789
50	sphingosine metabolic process (GO:0006670)	3.08158526
51	diterpenoid biosynthetic process (GO:0016102)	3.06219870
52	regulation of keratinocyte proliferation (GO:0010837)	3.03832746
53	glandular epithelial cell differentiation (GO:0002067)	3.02311211
54	regulation of interleukin-13 production (GO:0032656)	3.02052519
55	phosphatidylserine acyl-chain remodeling (GO:0036150)	2.96231106
56	gap junction assembly (GO:0016264)	2.95413811
57	primary alcohol metabolic process (GO:0034308)	2.91266916
58	cornea development in camera-type eye (GO:0061303)	2.90660229
59	phosphatidylinositol acyl-chain remodeling (GO:0036149)	2.89305405
60	linoleic acid metabolic process (GO:0043651)	2.88514116
61	exogenous drug catabolic process (GO:0042738)	2.85544791
62	polarized epithelial cell differentiation (GO:0030859)	2.85238101
63	long-chain fatty acid biosynthetic process (GO:0042759)	2.84118545
64	regulation of keratinocyte differentiation (GO:0045616)	2.83103122
65	excretion (GO:0007588)	2.82330625
66	O-glycan processing (GO:0016266)	2.81699659
67	asymmetric protein localization (GO:0008105)	2.78203731
68	phosphatidylglycerol acyl-chain remodeling (GO:0036148)	2.77901248
69	drug catabolic process (GO:0042737)	2.76845037
70	calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules (GO:0016338)	2.69790402
71	lipoxygenase pathway (GO:0019372)	2.66152208
72	photoreceptor cell maintenance (GO:0045494)	2.65698738
73	drug metabolic process (GO:0017144)	2.65043242
74	regulation of cholesterol homeostasis (GO:2000188)	2.64573388
75	negative regulation of T cell differentiation in thymus (GO:0033085)	2.57995601
76	norepinephrine metabolic process (GO:0042415)	2.57350798
77	phospholipid efflux (GO:0033700)	2.55722670
78	trivalent inorganic anion homeostasis (GO:0072506)	2.55571887
79	phosphate ion homeostasis (GO:0055062)	2.55571887
80	establishment of apical/basal cell polarity (GO:0035089)	2.55530709
81	renal absorption (GO:0070293)	2.53641590
82	phosphatidylethanolamine acyl-chain remodeling (GO:0036152)	2.50196595
83	columnar/cuboidal epithelial cell development (GO:0002066)	2.47461522
84	protein autoprocessing (GO:0016540)	2.47306918
85	glutathione derivative metabolic process (GO:1901685)	2.43439636
86	glutathione derivative biosynthetic process (GO:1901687)	2.43439636
87	left/right axis specification (GO:0070986)	2.42839122
88	epithelium development (GO:0060429)	2.41731247
89	negative regulation of humoral immune response (GO:0002921)	2.39864285
90	tryptophan catabolic process (GO:0006569)	2.39530958
91	indole-containing compound catabolic process (GO:0042436)	2.39530958
92	indolalkylamine catabolic process (GO:0046218)	2.39530958
93	fucose catabolic process (GO:0019317)	2.38530583
94	L-fucose metabolic process (GO:0042354)	2.38530583
95	L-fucose catabolic process (GO:0042355)	2.38530583
96	L-ascorbic acid metabolic process (GO:0019852)	2.38048070
97	negative regulation of lipase activity (GO:0060192)	2.37477691
98	pyrimidine-containing compound transmembrane transport (GO:0072531)	2.37171015
99	sphingolipid biosynthetic process (GO:0030148)	2.36301468
100	keratinization (GO:0031424)	12.7232255

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	TP63_17297297_ChIP-ChIP_HaCaT_Human	4.79094813
2	TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse	3.73231396
3	ESR1_21235772_ChIP-Seq_MCF-7_Human	3.31084638
4	VDR_22108803_ChIP-Seq_LS180_Human	3.22631495
5	ESR1_20079471_ChIP-ChIP_T-47D_Human	3.02877923
6	ESR2_21235772_ChIP-Seq_MCF-7_Human	2.91998727
7	TFAP2C_20629094_ChIP-Seq_MCF-7_Human	2.58759861
8	P63_26484246_Chip-Seq_KERATINOCYTES_Human	2.57181742
9	ZNF217_24962896_ChIP-Seq_MCF-7_Human	2.52481385
10	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	2.31707851
11	CDX2_20551321_ChIP-Seq_CACO-2_Human	2.30761906
12	AHR_22903824_ChIP-Seq_MCF-7_Human	2.13891042
13	SMAD4_19686287_ChIP-ChIP_HaCaT_Human	2.05055973
14	ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	2.02136368
15	FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.99817437
16	* GATA4_25053715_ChIP-Seq_YYC3_Human	1.85963384
17	DROSHA_22980978_ChIP-Seq_HELA_Human	1.81454555
18	GATA3_24758297_ChIP-Seq_MCF-7_Human	1.80528885
19	ARNT_22903824_ChIP-Seq_MCF-7_Human	1.72955797
20	FOXO3_23340844_ChIP-Seq_DLD1_Human	1.70556220
21	TP63_23658742_ChIP-Seq_EP156T_Human	1.66658572
22	STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse	1.62388901
23	FOXM1_26456572_ChIP-Seq_MCF-7_Human	1.61809141
24	SOX9_24532713_ChIP-Seq_HFSC_Mouse	1.60772173
25	SOX2_20726797_ChIP-Seq_SW620_Human	1.60188169
26	* RUNX1_27514584_Chip-Seq_MCF-7_Human	1.60133839
27	KLF5_25053715_ChIP-Seq_YYC3_Human	1.58589916
28	HIF1A_21447827_ChIP-Seq_MCF-7_Human	1.57441691
29	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.53109953
30	* SMAD3_18955504_ChIP-ChIP_HaCaT_Human	1.49496989
31	* SMAD2_18955504_ChIP-ChIP_HaCaT_Human	1.49496989
32	TP63_22573176_ChIP-Seq_HFKS_Human	1.46299506
33	FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human	1.44862410
34	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.43768437
35	AR_21915096_ChIP-Seq_LNCaP-1F5_Human	1.42652137
36	SOX2_27498859_Chip-Seq_STOMACH_Mouse	1.42158803
37	GATA6_25053715_ChIP-Seq_YYC3_Human	1.40113557
38	TCF4_18268006_ChIP-ChIP_LS174T_Human	1.37914069
39	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.36672037
40	NR1I2_20693526_ChIP-Seq_LIVER_Mouse	1.36241020
41	LXR_22158963_ChIP-Seq_LIVER_Mouse	1.33981800
42	RXR_22158963_ChIP-Seq_LIVER_Mouse	1.33061063
43	PPARA_22158963_ChIP-Seq_LIVER_Mouse	1.29712146
44	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.27093001
45	FOXA1_25552417_ChIP-Seq_VCAP_Human	1.26488395
46	RXR_22108803_ChIP-Seq_LS180_Human	1.26461239
47	CDX2_19796622_ChIP-Seq_MESCs_Mouse	1.25701036
48	BCAT_22108803_ChIP-Seq_LS180_Human	1.21882949
49	PPAR_26484153_Chip-Seq_NCI-H1993_Human	1.19791801
50	RARG_19884340_ChIP-ChIP_MEFs_Mouse	1.18645748
51	CEBPB_22108803_ChIP-Seq_LS180_Human	1.15472159
52	FOXO1_23066095_ChIP-Seq_LIVER_Mouse	1.14651708
53	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.12880526
54	OCT4_20526341_ChIP-Seq_ESCs_Human	1.10575166
55	* KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human	1.09528499
56	PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse	1.08925802
57	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.07866433
58	BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human	1.07001740
59	FOXA2_19822575_ChIP-Seq_HepG2_Human	1.06728217
60	SMAD3_21741376_ChIP-Seq_HESCs_Human	1.06373245
61	TCF4_22108803_ChIP-Seq_LS180_Human	1.06174730
62	* RACK7_27058665_Chip-Seq_MCF-7_Human	1.06120723
63	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.05105436
64	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.05105436
65	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.04858087
66	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.04253050
67	CTCF_27219007_Chip-Seq_Bcells_Human	1.02670513
68	OCT1_27270436_Chip-Seq_PROSTATE_Human	1.02323799
69	CTNNB1_20460455_ChIP-Seq_HCT116_Human	1.02054223
70	SMC4_20622854_ChIP-Seq_HELA_Human	1.01953786
71	CJUN_26792858_Chip-Seq_BT549_Human	1.01878352
72	P53_21459846_ChIP-Seq_SAOS-2_Human	1.01403118
73	* FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human	1.00954543
74	ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human	1.00720975
75	GATA6_21074721_ChIP-Seq_CACO-2_Mouse	0.99401985
76	ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse	0.99205961
77	ER_23166858_ChIP-Seq_MCF-7_Human	0.98981015
78	AR_25329375_ChIP-Seq_VCAP_Human	0.98315790
79	PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse	0.97883927
80	TP53_18474530_ChIP-ChIP_U2OS_Human	0.97655670
81	ERG_20517297_ChIP-Seq_VCAP_Human	0.96344450
82	ESR1_17901129_ChIP-ChIP_LIVER_Mouse	0.95962849
83	HTT_18923047_ChIP-ChIP_STHdh_Human	0.94179477
84	GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human	0.94084339
85	CDX2_22108803_ChIP-Seq_LS180_Human	0.93799548
86	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	0.93088283
87	ZNF274_21170338_ChIP-Seq_K562_Hela	0.91993015
88	AR_20517297_ChIP-Seq_VCAP_Human	0.91359489
89	SMAD2/3_21741376_ChIP-Seq_ESCs_Human	0.91240248
90	GATA6_21074721_ChIP-Seq_CACO-2_Human	0.90931172
91	FOXA1_26743006_Chip-Seq_LNCaP-abl_Human	0.90912817
92	JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	0.89160420
93	P63_20808887_ChIP-Seq_KERATINOCYTES_Human	0.88674482
94	ZFP57_27257070_Chip-Seq_ESCs_Mouse	0.88585500
95	STAT3_23295773_ChIP-Seq_U87_Human	0.88470317
96	SMAD4_21799915_ChIP-Seq_A2780_Human	0.88368845
97	* KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human	0.87331446
98	RBPJ_21746931_ChIP-Seq_IB4_Human	0.86331900
99	CTCF_20526341_ChIP-Seq_ESCs_Human	0.86297572
100	FOXA1_21572438_ChIP-Seq_LNCaP_Human	0.86082009

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0010234_abnormal_vibrissa_follicle	7.81626182
2	MP0002796_impaired_skin_barrier	6.51253893
3	MP0004043_abnormal_pH_regulation	3.93226577
4	MP0010678_abnormal_skin_adnexa	3.63709949
5	MP0005501_abnormal_skin_physiology	3.59576877
6	MP0003878_abnormal_ear_physiology	3.46523634
7	MP0005377_hearing/vestibular/ear_phenot	3.46523634
8	MP0004264_abnormal_extraembryonic_tissu	3.31734888
9	MP0005275_abnormal_skin_tensile	3.31034054
10	MP0000383_abnormal_hair_follicle	3.20305007
11	MP0002098_abnormal_vibrissa_morphology	2.94127499
12	MP0000579_abnormal_nail_morphology	2.76996598
13	MP0008875_abnormal_xenobiotic_pharmacok	2.71509655
14	MP0000566_synostosis	2.56702411
15	MP0000467_abnormal_esophagus_morphology	2.51295404
16	MP0004782_abnormal_surfactant_physiolog	2.49093798
17	MP0009780_abnormal_chondrocyte_physiolo	2.48367660
18	MP0001216_abnormal_epidermal_layer	2.34340517
19	MP0003941_abnormal_skin_development	2.30713230
20	MP0010771_integument_phenotype	2.12447200
21	MP0003195_calcinosis	2.06259836
22	MP0000377_abnormal_hair_follicle	2.00559255
23	MP0003453_abnormal_keratinocyte_physiol	1.89882288
24	MP0000427_abnormal_hair_cycle	1.83415406
25	MP0005083_abnormal_biliary_tract	1.82738052
26	MP0004885_abnormal_endolymph	1.74550885
27	MP0004019_abnormal_vitamin_homeostasis	1.61315530
28	MP0003011_delayed_dark_adaptation	1.60883726
29	MP0002139_abnormal_hepatobiliary_system	1.58926343
30	MP0004381_abnormal_hair_follicle	1.56716085
31	MP0000647_abnormal_sebaceous_gland	1.55695928
32	MP0005365_abnormal_bile_salt	1.52919563
33	MP0002909_abnormal_adrenal_gland	1.39563059
34	MP0008004_abnormal_stomach_pH	1.33700898
35	MP0002060_abnormal_skin_morphology	1.29148278
36	MP0003191_abnormal_cellular_cholesterol	1.23376302
37	MP0005085_abnormal_gallbladder_physiolo	1.21847392
38	MP0009053_abnormal_anal_canal	1.19926351
39	MP0002095_abnormal_skin_pigmentation	1.16814251
40	MP0000762_abnormal_tongue_morphology	1.15778880
41	MP0001765_abnormal_ion_homeostasis	1.14185353
42	MP0000367_abnormal_coat/_hair	1.13373411
43	MP0002653_abnormal_ependyma_morphology	1.11445807
44	MP0009931_abnormal_skin_appearance	1.11335703
45	MP0001666_abnormal_nutrient_absorption	1.10707845
46	MP0000470_abnormal_stomach_morphology	1.10025517
47	MP0010352_gastrointestinal_tract_polyps	1.07385775
48	MP0005409_darkened_coat_color	0.99875397
49	MP0001485_abnormal_pinna_reflex	0.98524408
50	MP0009379_abnormal_foot_pigmentation	0.97104895
51	MP0002876_abnormal_thyroid_physiology	0.96746774
52	MP0005646_abnormal_pituitary_gland	0.96570825
53	MP0004947_skin_inflammation	0.96425475
54	MP0003638_abnormal_response/metabolism_	0.96208905
55	MP0009643_abnormal_urine_homeostasis	0.96020276
56	MP0003252_abnormal_bile_duct	0.93986830
57	MP0003950_abnormal_plasma_membrane	0.93675686
58	MP0005636_abnormal_mineral_homeostasis	0.92059352
59	MP0000678_abnormal_parathyroid_gland	0.90442249
60	MP0001188_hyperpigmentation	0.87860055
61	MP0000371_diluted_coat_color	0.87059192
62	MP0010329_abnormal_lipoprotein_level	0.85242522
63	MP0008872_abnormal_physiological_respon	0.83091531
64	MP0003879_abnormal_hair_cell	0.81534901
65	MP0002168_other_aberrant_phenotype	0.80541334
66	MP0000465_gastrointestinal_hemorrhage	0.76253024
67	MP0003045_fibrosis	0.73153810
68	MP0001984_abnormal_olfaction	0.72577032
69	MP0001756_abnormal_urination	0.69340330
70	MP0002118_abnormal_lipid_homeostasis	0.69133940
71	MP0001191_abnormal_skin_condition	0.66939049
72	MP0005551_abnormal_eye_electrophysiolog	0.66884785
73	MP0002249_abnormal_larynx_morphology	0.65970831
74	MP0001501_abnormal_sleep_pattern	0.64430043
75	MP0005360_urolithiasis	0.61682186
76	MP0010386_abnormal_urinary_bladder	0.61442636
77	MP0001243_abnormal_dermal_layer	0.60905858
78	MP0005332_abnormal_amino_acid	0.60875790
79	MP0003566_abnormal_cell_adhesion	0.60157636
80	MP0002138_abnormal_hepatobiliary_system	0.56922864
81	MP0001664_abnormal_digestion	0.55684837
82	MP0005395_other_phenotype	0.54313298
83	MP0002736_abnormal_nociception_after	0.53534433
84	MP0005670_abnormal_white_adipose	0.52468909
85	MP0001851_eye_inflammation	0.52105339
86	MP0001944_abnormal_pancreas_morphology	0.49328596
87	MP0001968_abnormal_touch/_nociception	0.48476090
88	MP0002234_abnormal_pharynx_morphology	0.48442591
89	MP0002136_abnormal_kidney_physiology	0.47735726
90	MP0002111_abnormal_tail_morphology	0.47524187
91	MP0005075_abnormal_melanosome_morpholog	0.41946170
92	MP0000516_abnormal_urinary_system	0.41827286
93	MP0005367_renal/urinary_system_phenotyp	0.41827286
94	MP0001764_abnormal_homeostasis	0.40999159
95	MP0002282_abnormal_trachea_morphology	0.40291577
96	MP0005220_abnormal_exocrine_pancreas	0.40020722
97	MP0003119_abnormal_digestive_system	0.39908139
98	MP0003943_abnormal_hepatobiliary_system	0.38653024
99	MP0003183_abnormal_peptide_metabolism	0.38335244
100	MP0005647_abnormal_sex_gland	0.38002931

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Congenital ichthyosiform erythroderma (HP:0007431)	6.27764488
2	Abnormality of nail color (HP:0100643)	6.04409358
3	Palmoplantar hyperkeratosis (HP:0000972)	5.76210412
4	Oral leukoplakia (HP:0002745)	5.61627599
5	Erythroderma (HP:0001019)	5.45738519
6	Palmar hyperkeratosis (HP:0010765)	5.41681784
7	Increased IgE level (HP:0003212)	5.25353246
8	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	5.07572431
9	Plantar hyperkeratosis (HP:0007556)	4.76446277
10	Hypotrichosis (HP:0001006)	4.68745620
11	Congenital nonbullous ichthyosiform erythroderma (HP:0007479)	4.62026879
12	Chronic bronchitis (HP:0004469)	4.52347430
13	Abnormal respiratory motile cilium physiology (HP:0012261)	4.50562178
14	Dynein arm defect of respiratory motile cilia (HP:0012255)	4.46618743
15	Absent/shortened dynein arms (HP:0200106)	4.46618743
16	Abnormal ciliary motility (HP:0012262)	4.40215210
17	Abnormal respiratory motile cilium morphology (HP:0005938)	4.20661979
18	Abnormal respiratory epithelium morphology (HP:0012253)	4.20661979
19	Right ventricular cardiomyopathy (HP:0011663)	4.17361233
20	Alopecia of scalp (HP:0002293)	4.06316736
21	Rhinitis (HP:0012384)	4.05869205
22	Erythema (HP:0010783)	3.93238566
23	Lip pit (HP:0100267)	3.84161149
24	Corneal erosion (HP:0200020)	3.72332362
25	Hyperactive renin-angiotensin system (HP:0000841)	3.52910090
26	Fragile nails (HP:0001808)	3.36625511
27	Onycholysis (HP:0001806)	3.28884390
28	Parakeratosis (HP:0001036)	3.25170531
29	Woolly hair (HP:0002224)	3.24023805
30	Pili torti (HP:0003777)	3.23662882
31	Thick nail (HP:0001805)	3.18381021
32	Bronchiectasis (HP:0002110)	3.11052977
33	Abnormality of the axillary hair (HP:0100134)	3.07523109
34	Abnormality of secondary sexual hair (HP:0009888)	3.07523109
35	Abnormal hair laboratory examination (HP:0003328)	3.04843187
36	Furrowed tongue (HP:0000221)	2.97813033
37	Absent eyelashes (HP:0000561)	2.93913307
38	Nasal polyposis (HP:0100582)	2.92579508
39	Amelogenesis imperfecta (HP:0000705)	2.91835968
40	Hypohidrosis (HP:0000966)	2.72976017
41	Ectropion (HP:0000656)	2.68461613
42	Hyperkalemia (HP:0002153)	2.61907160
43	Pustule (HP:0200039)	2.56434387
44	Palmoplantar keratoderma (HP:0000982)	2.47493098
45	Nail dystrophy (HP:0008404)	2.46623097
46	Brittle hair (HP:0002299)	2.44934258
47	Abnormality of the salivary glands (HP:0010286)	2.42188831
48	Abnormality of monocarboxylic acid metabolism (HP:0010996)	2.39144002
49	Dehydration (HP:0001944)	2.38946021
50	Genetic anticipation (HP:0003743)	2.36601091
51	Hypoplastic labia majora (HP:0000059)	2.34717778
52	Dysmetric saccades (HP:0000641)	2.32732482
53	Gangrene (HP:0100758)	2.32066657
54	Sparse eyelashes (HP:0000653)	2.29130362
55	Renal salt wasting (HP:0000127)	2.28467525
56	Decreased circulating renin level (HP:0003351)	2.28405171
57	Absent hair (HP:0002298)	2.28082244
58	Popliteal pterygium (HP:0009756)	2.25978638
59	Abnormality of the nasal mucosa (HP:0000433)	2.23596301
60	Sparse scalp hair (HP:0002209)	2.21894152
61	Abnormality of renin-angiotensin system (HP:0000847)	2.17657389
62	Pruritus (HP:0000989)	2.16652128
63	Tubular atrophy (HP:0000092)	2.14740684
64	Abnormality of the labia majora (HP:0012881)	2.14389180
65	Conjunctival hamartoma (HP:0100780)	2.12986988
66	Curly hair (HP:0002212)	2.12483487
67	Gaze-evoked nystagmus (HP:0000640)	2.09296935
68	Acanthosis nigricans (HP:0000956)	2.08250990
69	Abnormality of chloride homeostasis (HP:0011422)	2.05053123
70	Abnormality of permanent molar morphology (HP:0011071)	1.99065344
71	Abnormality of the dental root (HP:0006486)	1.99065344
72	Taurodontia (HP:0000679)	1.99065344
73	Abnormality of macular pigmentation (HP:0008002)	1.95647196
74	Hyperaldosteronism (HP:0000859)	1.94167175
75	Hamartoma of the eye (HP:0010568)	1.94115731
76	Intrahepatic cholestasis (HP:0001406)	1.93592743
77	Tubulointerstitial nephritis (HP:0001970)	1.93164712
78	Bronchitis (HP:0012387)	1.88122918
79	Villous atrophy (HP:0011473)	1.87108722
80	Abnormality of small intestinal villus morphology (HP:0011472)	1.87108722
81	Abnormality of the dental pulp (HP:0006479)	1.86631561
82	Abnormality of molar (HP:0011077)	1.82988343
83	Abnormality of molar morphology (HP:0011070)	1.82988343
84	Ketoacidosis (HP:0001993)	1.82840937
85	Pancreatic cysts (HP:0001737)	1.78547184
86	Blepharitis (HP:0000498)	1.77979762
87	True hermaphroditism (HP:0010459)	1.74461921
88	Abnormal blistering of the skin (HP:0008066)	1.73886478
89	Progressive cerebellar ataxia (HP:0002073)	1.73734205
90	Oligodontia (HP:0000677)	1.73163409
91	Vascular calcification (HP:0004934)	1.69688118
92	Abnormality of the renal cortex (HP:0011035)	1.68908516
93	Lack of skin elasticity (HP:0100679)	1.67847638
94	Cystic liver disease (HP:0006706)	1.65914707
95	Hydroxyprolinuria (HP:0003080)	1.63661422
96	Abnormality of proline metabolism (HP:0010907)	1.63661422
97	Hypokalemic alkalosis (HP:0001949)	1.62465510
98	Fair hair (HP:0002286)	1.61540541
99	Ependymoma (HP:0002888)	1.60470206
100	Pendular nystagmus (HP:0012043)	1.58056454

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	EPHA2	7.41487582
2	FRK	5.12283026
3	LATS1	3.88287853
4	MST1R	3.20661487
5	STK38L	3.06616454
6	FER	2.62002667
7	MAP3K2	2.57356134
8	MAPK15	2.55371746
9	MST4	2.52548544
10	NME1	2.49805837
11	MAPKAPK3	2.25264493
12	OXSR1	1.73166352
13	INSRR	1.68298739
14	MAP3K6	1.67499524
15	ADRBK2	1.66272063
16	STK24	1.64671930
17	MET	1.60121589
18	MATK	1.59179041
19	STK3	1.52872491
20	MAP3K7	1.51199430
21	MAP3K3	1.45106584
22	TRPM7	1.43118535
23	STK38	1.42393923
24	GRK1	1.40299088
25	PRKCI	1.34135324
26	WNK4	1.33742873
27	RPS6KB2	1.32525250
28	MAP3K12	1.28773528
29	STK39	1.21460332
30	TGFBR1	1.18657377
31	MAP2K6	1.17951674
32	ACVR1B	1.15595294
33	ERBB2	1.02977905
34	BMPR1B	1.00903662
35	EPHA3	1.00763702
36	IRAK1	0.98653151
37	ERBB3	0.96129103
38	PTK2	0.95108436
39	WNK3	0.94247403
40	PKN2	0.94239728
41	SIK1	0.93869185
42	BCR	0.90335182
43	GRK6	0.87421891
44	MAP2K1	0.87002816
45	CASK	0.86865853
46	FGFR3	0.85976046
47	FGFR4	0.83812993
48	LATS2	0.82324246
49	PRKAA2	0.78495156
50	MAP2K2	0.75242426
51	ADRBK1	0.73048320
52	CDK12	0.71101082
53	TRIB3	0.70431799
54	PRKCE	0.69447435
55	MAP4K2	0.69398003
56	EPHB1	0.65506176
57	FGFR1	0.63505596
58	NTRK3	0.60316644
59	CDK19	0.56087020
60	CHUK	0.53715897
61	EEF2K	0.53105903
62	MAP3K4	0.48379959
63	PTK2B	0.46506864
64	TAOK1	0.45105111
65	MYLK	0.44992901
66	TNK2	0.44473347
67	HIPK2	0.42469607
68	RET	0.41493499
69	PDPK1	0.39140428
70	PASK	0.36731572
71	MARK2	0.36467976
72	RIPK1	0.35050994
73	ERN1	0.33802908
74	IKBKB	0.32754524
75	MAPK11	0.32025859
76	PBK	0.31868923
77	SMG1	0.31143181
78	PINK1	0.30081407
79	TESK1	0.29823424
80	DAPK2	0.29807054
81	NEK6	0.29008849
82	CSNK1A1	0.27794126
83	MAP3K9	0.27084828
84	MAPKAPK5	0.26835055
85	PRKCA	0.24492007
86	MAP2K7	0.24437020
87	ABL1	0.23616487
88	TAOK3	0.23358346
89	IGF1R	0.22931900
90	IRAK3	0.22488570
91	MAPKAPK2	0.22427813
92	MAP2K4	0.22396912
93	FGFR2	0.19894182
94	TBK1	0.19876342
95	MELK	0.19549781
96	SGK1	0.19227218
97	LRRK2	0.18833927
98	PRKAA1	0.18770463
99	CAMK2A	0.17439963
100	ABL2	0.16749900

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Histidine metabolism_Homo sapiens_hsa00340	3.08628188
2	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	3.00565936
3	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	2.96530301
4	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	2.79509941
5	Steroid hormone biosynthesis_Homo sapiens_hsa00140	2.71127967
6	Chemical carcinogenesis_Homo sapiens_hsa05204	2.70578032
7	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.68605068
8	Linoleic acid metabolism_Homo sapiens_hsa00591	2.64174550
9	Retinol metabolism_Homo sapiens_hsa00830	2.64001044
10	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	2.47590313
11	Primary bile acid biosynthesis_Homo sapiens_hsa00120	2.46273484
12	Phenylalanine metabolism_Homo sapiens_hsa00360	2.43175543
13	Sphingolipid metabolism_Homo sapiens_hsa00600	2.36532468
14	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.35159389
15	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.22092253
16	Butanoate metabolism_Homo sapiens_hsa00650	2.15554425
17	Cyanoamino acid metabolism_Homo sapiens_hsa00460	2.14170881
18	ABC transporters_Homo sapiens_hsa02010	2.08867275
19	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	1.99369127
20	Tyrosine metabolism_Homo sapiens_hsa00350	1.92841955
21	beta-Alanine metabolism_Homo sapiens_hsa00410	1.92698369
22	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.85072548
23	Tryptophan metabolism_Homo sapiens_hsa00380	1.73285101
24	Ether lipid metabolism_Homo sapiens_hsa00565	1.62591104
25	Fatty acid degradation_Homo sapiens_hsa00071	1.53957896
26	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.46599512
27	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.44832552
28	Caffeine metabolism_Homo sapiens_hsa00232	1.36794376
29	Drug metabolism - other enzymes_Homo sapiens_hsa00983	1.36172175
30	Phototransduction_Homo sapiens_hsa04744	1.33232159
31	Starch and sucrose metabolism_Homo sapiens_hsa00500	1.32925591
32	Ovarian steroidogenesis_Homo sapiens_hsa04913	1.28957334
33	PPAR signaling pathway_Homo sapiens_hsa03320	1.12003698
34	Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524	1.08895400
35	Arginine biosynthesis_Homo sapiens_hsa00220	1.08662231
36	Fat digestion and absorption_Homo sapiens_hsa04975	1.00181300
37	Glutathione metabolism_Homo sapiens_hsa00480	0.99424928
38	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.95886767
39	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.94527821
40	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.94071111
41	Taste transduction_Homo sapiens_hsa04742	0.93033062
42	Salivary secretion_Homo sapiens_hsa04970	0.92995156
43	Glycerolipid metabolism_Homo sapiens_hsa00561	0.92032046
44	Complement and coagulation cascades_Homo sapiens_hsa04610	0.91910190
45	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.91855487
46	Tight junction_Homo sapiens_hsa04530	0.90952139
47	Circadian rhythm_Homo sapiens_hsa04710	0.86198635
48	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.85834596
49	Arginine and proline metabolism_Homo sapiens_hsa00330	0.81982982
50	Bile secretion_Homo sapiens_hsa04976	0.77958020
51	Peroxisome_Homo sapiens_hsa04146	0.75947761
52	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	0.75888285
53	Nitrogen metabolism_Homo sapiens_hsa00910	0.75883350
54	Fatty acid metabolism_Homo sapiens_hsa01212	0.74248061
55	Collecting duct acid secretion_Homo sapiens_hsa04966	0.72941801
56	Fatty acid elongation_Homo sapiens_hsa00062	0.71161468
57	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	0.70262227
58	Pancreatic secretion_Homo sapiens_hsa04972	0.68635526
59	Serotonergic synapse_Homo sapiens_hsa04726	0.66990233
60	Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750	0.63438027
61	Sulfur metabolism_Homo sapiens_hsa00920	0.63038526
62	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.62683046
63	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.62052885
64	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.61711193
65	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.59269060
66	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.55978109
67	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.54548716
68	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.54353857
69	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	0.51881250
70	Steroid biosynthesis_Homo sapiens_hsa00100	0.51599916
71	Metabolic pathways_Homo sapiens_hsa01100	0.51453996
72	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.47279177
73	Mineral absorption_Homo sapiens_hsa04978	0.47273276
74	Choline metabolism in cancer_Homo sapiens_hsa05231	0.44394028
75	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.41088847
76	Long-term depression_Homo sapiens_hsa04730	0.40169319
77	Insulin resistance_Homo sapiens_hsa04931	0.39731368
78	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.39291400
79	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.38370328
80	Propanoate metabolism_Homo sapiens_hsa00640	0.36947053
81	Glycosaminoglycan degradation_Homo sapiens_hsa00531	0.35864971
82	Glutamatergic synapse_Homo sapiens_hsa04724	0.35057173
83	Vibrio cholerae infection_Homo sapiens_hsa05110	0.33654352
84	Olfactory transduction_Homo sapiens_hsa04740	0.31604183
85	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	0.31552393
86	Insulin secretion_Homo sapiens_hsa04911	0.30586291
87	Hippo signaling pathway_Homo sapiens_hsa04390	0.30377600
88	Hepatitis C_Homo sapiens_hsa05160	0.29490134
89	Sphingolipid signaling pathway_Homo sapiens_hsa04071	0.29160629
90	Adherens junction_Homo sapiens_hsa04520	0.28443695
91	GnRH signaling pathway_Homo sapiens_hsa04912	0.28331904
92	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	0.27758806
93	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.26777646
94	Axon guidance_Homo sapiens_hsa04360	0.25983718
95	Lysine degradation_Homo sapiens_hsa00310	0.25686938
96	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.25126915
97	Lysosome_Homo sapiens_hsa04142	0.24168701
98	Circadian entrainment_Homo sapiens_hsa04713	0.23079957
99	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.21309394
100	Calcium signaling pathway_Homo sapiens_hsa04020	0.21135776

C2ORF54

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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