ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	cilium or flagellum-dependent cell motility (GO:0001539)	6.14961999
2	cilium movement (GO:0003341)	4.64111911
3	retinal rod cell development (GO:0046548)	4.57326378
4	hemidesmosome assembly (GO:0031581)	4.55893212
5	motile cilium assembly (GO:0044458)	4.45044484
6	cell adhesion mediated by integrin (GO:0033627)	4.34151766
7	retina vasculature morphogenesis in camera-type eye (GO:0061299)	3.95948185
8	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.88441876
9	chondrocyte proliferation (GO:0035988)	3.82992786
10	endothelial cell morphogenesis (GO:0001886)	3.39766799
11	lymphangiogenesis (GO:0001946)	3.36502730
12	wound healing, spreading of epidermal cells (GO:0035313)	3.32001407
13	mesodermal cell differentiation (GO:0048333)	3.31302325
14	epithelial cilium movement (GO:0003351)	3.29593917
15	paraxial mesoderm development (GO:0048339)	3.26063009
16	negative regulation of chondrocyte differentiation (GO:0032331)	3.25659238
17	hypotonic response (GO:0006971)	3.18396922
18	negative regulation of fibrinolysis (GO:0051918)	3.18375500
19	layer formation in cerebral cortex (GO:0021819)	3.18159143
20	axonemal dynein complex assembly (GO:0070286)	3.16663437
21	retinal cone cell development (GO:0046549)	3.09694498
22	axoneme assembly (GO:0035082)	3.03660965
23	regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)	2.98473303
24	COPI coating of Golgi vesicle (GO:0048205)	2.98023770
25	Golgi transport vesicle coating (GO:0048200)	2.98023770
26	regulation of transforming growth factor beta2 production (GO:0032909)	2.95663123
27	cell-substrate junction assembly (GO:0007044)	2.92074618
28	morphogenesis of an epithelial sheet (GO:0002011)	2.76722710
29	negative regulation of anoikis (GO:2000811)	2.75527597
30	COPII vesicle coating (GO:0048208)	2.73247013
31	blood vessel maturation (GO:0001955)	2.71570113
32	cranial nerve structural organization (GO:0021604)	2.70980142
33	adherens junction organization (GO:0034332)	2.64450130
34	regulation of plasminogen activation (GO:0010755)	2.63891965
35	positive regulation of dendritic spine morphogenesis (GO:0061003)	2.61863850
36	substrate-dependent cell migration (GO:0006929)	2.61240441
37	righting reflex (GO:0060013)	2.60760248
38	tonic smooth muscle contraction (GO:0014820)	2.58193436
39	negative regulation of glucose import (GO:0046325)	2.55764107
40	regulation of cell migration involved in sprouting angiogenesis (GO:0090049)	2.54704902
41	bone remodeling (GO:0046849)	2.51701546
42	nuclear pore complex assembly (GO:0051292)	2.47580862
43	vascular smooth muscle contraction (GO:0014829)	2.46724808
44	growth hormone secretion (GO:0030252)	2.46588411
45	ephrin receptor signaling pathway (GO:0048013)	2.44509690
46	neuroblast proliferation (GO:0007405)	2.41821874
47	regulation of fibrinolysis (GO:0051917)	2.41185115
48	protein localization to microtubule (GO:0035372)	2.39507025
49	ventricular system development (GO:0021591)	2.38684434
50	glomerular basement membrane development (GO:0032836)	2.38257496
51	SMAD protein complex assembly (GO:0007183)	2.37356968
52	embryonic foregut morphogenesis (GO:0048617)	2.36917487
53	left/right pattern formation (GO:0060972)	2.36240403
54	positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)	2.35588341
55	embryonic retina morphogenesis in camera-type eye (GO:0060059)	2.35037797
56	regulation of mitotic spindle organization (GO:0060236)	2.34737022
57	positive regulation of hormone biosynthetic process (GO:0046886)	2.32304460
58	regulation of cardioblast differentiation (GO:0051890)	2.31588032
59	mitotic cytokinesis (GO:0000281)	2.30956965
60	retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	2.30606052
61	skin morphogenesis (GO:0043589)	2.29671479
62	smooth muscle tissue development (GO:0048745)	2.28298843
63	substrate adhesion-dependent cell spreading (GO:0034446)	2.28159754
64	hippo signaling (GO:0035329)	2.27856780
65	wound healing, spreading of cells (GO:0044319)	2.26692785
66	endodermal cell differentiation (GO:0035987)	2.24198487
67	G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199	2.24007104
68	microtubule-based movement (GO:0007018)	2.21218825
69	embryonic viscerocranium morphogenesis (GO:0048703)	2.21137010
70	cytoskeletal anchoring at plasma membrane (GO:0007016)	2.20002218
71	protein retention in ER lumen (GO:0006621)	2.19048529
72	mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)	2.18760156
73	intraciliary transport (GO:0042073)	2.18200032
74	regulation of establishment of planar polarity (GO:0090175)	2.17762308
75	facial nerve structural organization (GO:0021612)	2.17622920
76	stress fiber assembly (GO:0043149)	2.17512670
77	regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	2.16630349
78	nucleus localization (GO:0051647)	2.16586005
79	anatomical structure arrangement (GO:0048532)	2.15296704
80	response to lipoprotein particle (GO:0055094)	2.14747981
81	axon extension involved in axon guidance (GO:0048846)	2.14582311
82	neuron projection extension involved in neuron projection guidance (GO:1902284)	2.14582311
83	maintenance of protein localization in endoplasmic reticulum (GO:0035437)	2.14419162
84	positive regulation of endothelial cell differentiation (GO:0045603)	2.14007501
85	microtubule bundle formation (GO:0001578)	2.13401054
86	4-hydroxyproline metabolic process (GO:0019471)	2.13140144
87	negative regulation of cartilage development (GO:0061037)	2.13083449
88	embryonic heart tube development (GO:0035050)	2.12269222
89	nuclear pore organization (GO:0006999)	2.11717376
90	regulation of cardiac muscle cell contraction (GO:0086004)	2.11381048
91	neuron remodeling (GO:0016322)	2.11217128
92	regulation of chondrocyte differentiation (GO:0032330)	2.10570637
93	lens morphogenesis in camera-type eye (GO:0002089)	2.10436893
94	intestinal cholesterol absorption (GO:0030299)	2.09997653
95	vesicle coating (GO:0006901)	2.09883065
96	coronary vasculature morphogenesis (GO:0060977)	2.09819590
97	piRNA metabolic process (GO:0034587)	2.09635169
98	cranial nerve morphogenesis (GO:0021602)	2.08624773
99	negative regulation of protein activation cascade (GO:2000258)	2.08428415
100	cell-substrate adhesion (GO:0031589)	2.08198387

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	TP63_17297297_ChIP-ChIP_HaCaT_Human	4.56570312
2	IGF1R_20145208_ChIP-Seq_DFB_Human	4.04710428
3	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	4.02271415
4	GBX2_23144817_ChIP-Seq_PC3_Human	2.85728746
5	TAF15_26573619_Chip-Seq_HEK293_Human	2.45834420
6	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	2.40785726
7	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	2.36870797
8	TP53_16413492_ChIP-PET_HCT116_Human	2.31039196
9	AR_21572438_ChIP-Seq_LNCaP_Human	2.22053478
10	EP300_21415370_ChIP-Seq_HL-1_Mouse	2.00275861
11	ZNF217_24962896_ChIP-Seq_MCF-7_Human	1.98678868
12	TP53_18474530_ChIP-ChIP_U2OS_Human	1.94056153
13	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.93266616
14	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.93021644
15	HIF1A_21447827_ChIP-Seq_MCF-7_Human	1.91495633
16	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.91490895
17	CJUN_26792858_Chip-Seq_BT549_Human	1.85833981
18	AR_21909140_ChIP-Seq_LNCAP_Human	1.84630446
19	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.82313464
20	SMAD4_19686287_ChIP-ChIP_HaCaT_Human	1.76357866
21	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.74964926
22	GATA2_21666600_ChIP-Seq_HMVEC_Human	1.69563953
23	CTNNB1_20460455_ChIP-Seq_HCT116_Human	1.68313545
24	RBPJ_22232070_ChIP-Seq_NCS_Mouse	1.67584525
25	NFE2L2_20460467_ChIP-Seq_MEFs_Mouse	1.61962416
26	NRF2_20460467_ChIP-Seq_MEFs_Mouse	1.61962416
27	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.55649726
28	SMAD_19615063_ChIP-ChIP_OVARY_Human	1.54772306
29	SMAD4_21799915_ChIP-Seq_A2780_Human	1.54763602
30	TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse	1.54118508
31	CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons	1.52279959
32	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	1.47045983
33	PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse	1.46952627
34	ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse	1.45459015
35	FOXA2_19822575_ChIP-Seq_HepG2_Human	1.45118524
36	CLOCK_20551151_ChIP-Seq_293T_Human	1.45095160
37	TBX3_20139965_ChIP-Seq_ESCs_Mouse	1.43245650
38	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.41589181
39	TBX3_20139965_ChIP-Seq_MESCs_Mouse	1.41567766
40	CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse	1.40732166
41	NR1I2_20693526_ChIP-Seq_LIVER_Mouse	1.40642978
42	SMAD2_18955504_ChIP-ChIP_HaCaT_Human	1.39175250
43	SMAD3_18955504_ChIP-ChIP_HaCaT_Human	1.39175250
44	ESR1_22446102_ChIP-Seq_UTERUS_Mouse	1.38896765
45	TRIM28_21343339_ChIP-Seq_HEK293_Human	1.38433120
46	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.36176619
47	SOX9_24532713_ChIP-Seq_HFSC_Mouse	1.35891730
48	SALL4_18804426_ChIP-ChIP_XEN_Mouse	1.35545351
49	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.34321564
50	PRDM5_23873026_ChIP-Seq_MEFs_Mouse	1.34282898
51	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.31231579
52	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	1.30285905
53	AHR_22903824_ChIP-Seq_MCF-7_Human	1.28602168
54	STAT3_23295773_ChIP-Seq_U87_Human	1.28204729
55	YAP1_20516196_ChIP-Seq_MESCs_Mouse	1.28045629
56	CDX2_19796622_ChIP-Seq_MESCs_Mouse	1.27938736
57	FOXO3_23340844_ChIP-Seq_DLD1_Human	1.27895438
58	SOX2_21211035_ChIP-Seq_LN229_Gbm	1.23499582
59	BRD4_25478319_ChIP-Seq_HGPS_Human	1.20737129
60	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.19967912
61	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.19811431
62	KDM5B_21448134_ChIP-Seq_MESCs_Mouse	1.19470097
63	WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse	1.17221935
64	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.16431266
65	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.14578693
66	TP63_23658742_ChIP-Seq_EP156T_Human	1.14306224
67	ARNT_22903824_ChIP-Seq_MCF-7_Human	1.13386932
68	TCF4_18268006_ChIP-ChIP_LS174T_Human	1.12914836
69	VDR_22108803_ChIP-Seq_LS180_Human	1.12620902
70	FOXM1_26456572_ChIP-Seq_MCF-7_Human	1.12067589
71	STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse	1.11360654
72	SMAD3_22036565_ChIP-Seq_ESCs_Mouse	1.10241377
73	SOX9_26525672_Chip-Seq_HEART_Mouse	1.09810488
74	TCF4_23295773_ChIP-Seq_U87_Human	1.08594844
75	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.08550664
76	PPAR_26484153_Chip-Seq_NCI-H1993_Human	1.07519358
77	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.07519340
78	TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.06891656
79	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.06689735
80	SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse	1.05609230
81	JUN_21703547_ChIP-Seq_K562_Human	1.03323940
82	RNF2_27304074_Chip-Seq_NSC_Mouse	1.03316334
83	ZNF263_19887448_ChIP-Seq_K562_Human	1.02605747
84	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.01749742
85	SOX2_18358816_ChIP-ChIP_MESCs_Mouse	1.01666021
86	FOXM1_23109430_ChIP-Seq_U2OS_Human	1.00651897
87	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	1.00448478
88	P300_19829295_ChIP-Seq_ESCs_Human	1.00213735
89	ISL1_27105846_Chip-Seq_CPCs_Mouse	0.99732874
90	RUNX2_22187159_ChIP-Seq_PCA_Human	0.98973590
91	AR_19668381_ChIP-Seq_PC3_Human	0.96941383
92	EED_16625203_ChIP-ChIP_MESCs_Mouse	0.96864440
93	WT1_25993318_ChIP-Seq_PODOCYTE_Human	0.95744384
94	WT1_19549856_ChIP-ChIP_CCG9911_Human	0.95171458
95	P53_22127205_ChIP-Seq_FIBROBLAST_Human	0.95028656
96	EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse	0.92538733
97	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	0.92342569
98	ELK4_26923725_Chip-Seq_MESODERM_Mouse	0.90603939
99	NANOG_18700969_ChIP-ChIP_MESCs_Mouse	0.90335336
100	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	0.89623983

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0010368_abnormal_lymphatic_system	4.44370650
2	MP0004272_abnormal_basement_membrane	4.34077761
3	MP0005623_abnormal_meninges_morphology	3.68232454
4	MP0003950_abnormal_plasma_membrane	2.69681123
5	MP0001879_abnormal_lymphatic_vessel	2.66787546
6	MP0005167_abnormal_blood-brain_barrier	2.31591790
7	MP0006054_spinal_hemorrhage	2.28921586
8	MP0003566_abnormal_cell_adhesion	2.25822716
9	MP0003705_abnormal_hypodermis_morpholog	2.22368234
10	MP0005248_abnormal_Harderian_gland	2.07647097
11	MP0000751_myopathy	1.84870710
12	MP0001661_extended_life_span	1.79673664
13	MP0005409_darkened_coat_color	1.79397829
14	MP0001915_intracranial_hemorrhage	1.77554036
15	MP0008438_abnormal_cutaneous_collagen	1.73849917
16	MP0000013_abnormal_adipose_tissue	1.69175452
17	MP0000566_synostosis	1.68251384
18	MP0010030_abnormal_orbit_morphology	1.61281946
19	MP0002697_abnormal_eye_size	1.60646533
20	MP0010234_abnormal_vibrissa_follicle	1.55344396
21	MP0003385_abnormal_body_wall	1.52518247
22	MP0009697_abnormal_copulation	1.52438514
23	MP0005257_abnormal_intraocular_pressure	1.45684250
24	MP0002092_abnormal_eye_morphology	1.45489266
25	MP0001293_anophthalmia	1.42532257
26	MP0002102_abnormal_ear_morphology	1.42303419
27	MP0010352_gastrointestinal_tract_polyps	1.40053689
28	MP0000762_abnormal_tongue_morphology	1.39505890
29	MP0000537_abnormal_urethra_morphology	1.37642224
30	MP0003941_abnormal_skin_development	1.37268557
31	MP0005187_abnormal_penis_morphology	1.35320684
32	MP0000767_abnormal_smooth_muscle	1.31776902
33	MP0006138_congestive_heart_failure	1.25767460
34	MP0001299_abnormal_eye_distance/	1.25437899
35	MP0010678_abnormal_skin_adnexa	1.25419421
36	MP0005391_vision/eye_phenotype	1.23384581
37	MP0003935_abnormal_craniofacial_develop	1.21815091
38	MP0002233_abnormal_nose_morphology	1.21389198
39	MP0004145_abnormal_muscle_electrophysio	1.19171431
40	MP0004233_abnormal_muscle_weight	1.19109179
41	MP0000778_abnormal_nervous_system	1.19107687
42	MP0000579_abnormal_nail_morphology	1.17960626
43	MP0003221_abnormal_cardiomyocyte_apopto	1.15784321
44	MP0000534_abnormal_ureter_morphology	1.15289426
45	MP0001849_ear_inflammation	1.12977315
46	MP0005253_abnormal_eye_physiology	1.11683547
47	MP0005197_abnormal_uvea_morphology	1.11222457
48	MP0000383_abnormal_hair_follicle	1.10950099
49	MP0003091_abnormal_cell_migration	1.10368048
50	MP0000467_abnormal_esophagus_morphology	1.09906180
51	MP0005085_abnormal_gallbladder_physiolo	1.09112078
52	MP0004215_abnormal_myocardial_fiber	1.08852806
53	MP0004858_abnormal_nervous_system	1.04474682
54	MP0001286_abnormal_eye_development	1.03216511
55	MP0003937_abnormal_limbs/digits/tail_de	1.01333099
56	MP0000049_abnormal_middle_ear	0.99624894
57	MP0003755_abnormal_palate_morphology	0.99102825
58	MP0008260_abnormal_autophagy	0.97564909
59	MP0001270_distended_abdomen	0.96837926
60	MP0000749_muscle_degeneration	0.93261567
61	MP0002925_abnormal_cardiovascular_devel	0.93030209
62	MP0000465_gastrointestinal_hemorrhage	0.92604763
63	MP0002128_abnormal_blood_circulation	0.91247239
64	MP0000647_abnormal_sebaceous_gland	0.90876021
65	MP0002332_abnormal_exercise_endurance	0.90495054
66	MP0000462_abnormal_digestive_system	0.89433039
67	MP0002168_other_aberrant_phenotype	0.88367989
68	MP0001614_abnormal_blood_vessel	0.88071865
69	MP0005171_absent_coat_pigmentation	0.87890019
70	MP0000003_abnormal_adipose_tissue	0.86648239
71	MP0002877_abnormal_melanocyte_morpholog	0.86253877
72	MP0005275_abnormal_skin_tensile	0.85143583
73	MP0003984_embryonic_growth_retardation	0.84566801
74	MP0003942_abnormal_urinary_system	0.84104243
75	MP0002177_abnormal_outer_ear	0.83811023
76	MP0003279_aneurysm	0.83596273
77	MP0005360_urolithiasis	0.83474686
78	MP0004133_heterotaxia	0.83319070
79	MP0002084_abnormal_developmental_patter	0.82207540
80	MP0003252_abnormal_bile_duct	0.81092038
81	MP0000428_abnormal_craniofacial_morphol	0.80432008
82	MP0005195_abnormal_posterior_eye	0.80118488
83	MP0005330_cardiomyopathy	0.80024312
84	MP0002060_abnormal_skin_morphology	0.79998236
85	MP0001324_abnormal_eye_pigmentation	0.79391993
86	MP0002896_abnormal_bone_mineralization	0.78705907
87	MP0002085_abnormal_embryonic_tissue	0.78386438
88	MP0003861_abnormal_nervous_system	0.77225756
89	MP0000733_abnormal_muscle_development	0.76972313
90	MP0002088_abnormal_embryonic_growth/wei	0.76468826
91	MP0002653_abnormal_ependyma_morphology	0.76428008
92	MP0005193_abnormal_anterior_eye	0.76309388
93	MP0001984_abnormal_olfaction	0.74397739
94	MP0005595_abnormal_vascular_smooth	0.72185959
95	MP0009384_cardiac_valve_regurgitation	0.71919437
96	MP0005380_embryogenesis_phenotype	0.71054352
97	MP0001672_abnormal_embryogenesis/_devel	0.71054352
98	MP0004484_altered_response_of	0.70321682
99	MP0003315_abnormal_perineum_morphology	0.69170340
100	MP0010630_abnormal_cardiac_muscle	0.68269103

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Abnormal ciliary motility (HP:0012262)	4.75728626
2	Aortic aneurysm (HP:0004942)	4.19294903
3	Abnormal respiratory motile cilium physiology (HP:0012261)	3.84149950
4	Absent/shortened dynein arms (HP:0200106)	3.77498912
5	Dynein arm defect of respiratory motile cilia (HP:0012255)	3.77498912
6	Protrusio acetabuli (HP:0003179)	3.34623336
7	Decreased number of large peripheral myelinated nerve fibers (HP:0003387)	3.14561450
8	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	3.04525859
9	Scanning speech (HP:0002168)	2.92100208
10	Vertebral arch anomaly (HP:0008438)	2.79174445
11	Aortic dissection (HP:0002647)	2.72812342
12	Tubulointerstitial nephritis (HP:0001970)	2.66177228
13	Deep venous thrombosis (HP:0002625)	2.60690486
14	Abnormal respiratory epithelium morphology (HP:0012253)	2.55381017
15	Abnormal respiratory motile cilium morphology (HP:0005938)	2.55381017
16	Heterotopia (HP:0002282)	2.42389240
17	Arterial tortuosity (HP:0005116)	2.37089261
18	Atrophic scars (HP:0001075)	2.36235917
19	Cervical subluxation (HP:0003308)	2.32423465
20	Abnormality of the lower motor neuron (HP:0002366)	2.26516496
21	Abnormality of dentin (HP:0010299)	2.26068995
22	Anteriorly placed anus (HP:0001545)	2.21189329
23	Progressive sensorineural hearing impairment (HP:0000408)	2.17570023
24	Occipital encephalocele (HP:0002085)	2.16426409
25	Short nail (HP:0001799)	2.15330263
26	Premature rupture of membranes (HP:0001788)	2.14046209
27	Hypoalphalipoproteinemia (HP:0003233)	2.13525162
28	Hypopigmentation of the fundus (HP:0007894)	2.12180707
29	Decreased lacrimation (HP:0000633)	2.07294607
30	Vascular tortuosity (HP:0004948)	2.05816009
31	Wrist flexion contracture (HP:0001239)	2.05440034
32	Broad face (HP:0000283)	2.02703552
33	Flat acetabular roof (HP:0003180)	2.02387232
34	Subcapsular cataract (HP:0000523)	1.97134593
35	Chronic hepatic failure (HP:0100626)	1.95337192
36	Shallow orbits (HP:0000586)	1.94945205
37	Abnormality of carpal bone ossification (HP:0006257)	1.93321875
38	Absent eyebrow (HP:0002223)	1.93077566
39	Aneurysm (HP:0002617)	1.91760961
40	Shoulder girdle muscle weakness (HP:0003547)	1.91433042
41	Mitral valve prolapse (HP:0001634)	1.91040222
42	Absent rod-and cone-mediated responses on ERG (HP:0007688)	1.90817288
43	Mitral stenosis (HP:0001718)	1.90587900
44	Rhinitis (HP:0012384)	1.89316591
45	Hypercholesterolemia (HP:0003124)	1.88001891
46	Cerebral aneurysm (HP:0004944)	1.87387675
47	Hemorrhage of the eye (HP:0011885)	1.86369802
48	Hypoplasia of the capital femoral epiphysis (HP:0003090)	1.86270082
49	Hematochezia (HP:0002573)	1.86260299
50	Vertebral clefting (HP:0008428)	1.84460071
51	Spinal rigidity (HP:0003306)	1.82060155
52	Neonatal death (HP:0003811)	1.81002826
53	Portal hypertension (HP:0001409)	1.80399132
54	Menstrual irregularities (HP:0000858)	1.79273155
55	Abnormality of the intrinsic pathway (HP:0010989)	1.77469029
56	Open mouth (HP:0000194)	1.77124256
57	Alacrima (HP:0000522)	1.76893628
58	Pterygium (HP:0001059)	1.76324008
59	Cutaneous finger syndactyly (HP:0010554)	1.74988536
60	Distal upper limb amyotrophy (HP:0007149)	1.74910307
61	Upper limb amyotrophy (HP:0009129)	1.74910307
62	Mixed hearing impairment (HP:0000410)	1.74682684
63	Papillary thyroid carcinoma (HP:0002895)	1.74114892
64	Hydroureter (HP:0000072)	1.73686534
65	Hand muscle atrophy (HP:0009130)	1.72089440
66	Skull defect (HP:0001362)	1.71480645
67	Thick nail (HP:0001805)	1.71309365
68	Conjugated hyperbilirubinemia (HP:0002908)	1.71037330
69	Difficulty climbing stairs (HP:0003551)	1.69649039
70	Vitreoretinal degeneration (HP:0000655)	1.69555808
71	Wide anterior fontanel (HP:0000260)	1.68965782
72	Joint hemorrhage (HP:0005261)	1.68782647
73	Abnormality of the acetabulum (HP:0003170)	1.67289019
74	Absent epiphyses (HP:0010577)	1.66379523
75	Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)	1.66379523
76	Hammertoe (HP:0001765)	1.63147906
77	Abnormality of the hepatic vasculature (HP:0006707)	1.62628018
78	Facial cleft (HP:0002006)	1.60314299
79	Deviation of the thumb (HP:0009603)	1.59903860
80	Unilateral renal agenesis (HP:0000122)	1.59399102
81	Abnormal ossification of hand bones (HP:0005921)	1.58477915
82	Menorrhagia (HP:0000132)	1.58187183
83	Renal dysplasia (HP:0000110)	1.57243042
84	Facial hemangioma (HP:0000329)	1.55578944
85	Smooth philtrum (HP:0000319)	1.54435107
86	Dental crowding (HP:0000678)	1.54296520
87	Wormian bones (HP:0002645)	1.53175694
88	Bifid uvula (HP:0000193)	1.52973424
89	Myelomeningocele (HP:0002475)	1.52402971
90	Bronchomalacia (HP:0002780)	1.52135148
91	Pulmonic stenosis (HP:0001642)	1.51697742
92	Subacute progressive viral hepatitis (HP:0006572)	1.51071528
93	Short 4th metacarpal (HP:0010044)	1.49872911
94	Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)	1.49872911
95	Hypoplastic pelvis (HP:0008839)	1.49872783
96	Progressive hearing impairment (HP:0001730)	1.49848129
97	Cortical dysplasia (HP:0002539)	1.49838121
98	Neoplasm of the heart (HP:0100544)	1.49355850
99	Congenital primary aphakia (HP:0007707)	1.49316680
100	Natal tooth (HP:0000695)	1.49186957

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	TIE1	4.64226081
2	MST1R	3.26497755
3	MET	3.24685556
4	EPHB1	3.07321892
5	BCR	2.98227450
6	EPHA2	2.63287775
7	PTK2	2.25013969
8	EPHB2	2.24743462
9	NTRK1	2.19970124
10	LATS1	2.07133242
11	EPHA3	2.04299928
12	MAP2K7	1.89835931
13	ICK	1.88110228
14	TTN	1.87922732
15	PDGFRA	1.83142680
16	CDK12	1.77834344
17	MYLK	1.77590931
18	MAP3K4	1.76966934
19	DMPK	1.76521970
20	WNK4	1.75235268
21	LMTK2	1.67310637
22	FER	1.62179971
23	NEK9	1.52457191
24	PAK4	1.50242885
25	EPHA4	1.41175105
26	CSNK1A1L	1.36074782
27	MAP4K2	1.33814711
28	TGFBR2	1.31143710
29	BUB1	1.29220210
30	FLT3	1.23235250
31	ERBB3	1.20237316
32	PBK	1.17515462
33	CDK8	1.14650514
34	ERBB4	1.12203839
35	WNK1	1.07504456
36	STK39	1.04732818
37	ERBB2	1.03550181
38	STK38L	1.01666763
39	MUSK	0.98125742
40	CSNK1G1	0.97467827
41	FGFR1	0.95314984
42	PKN2	0.91359680
43	CSNK1G2	0.85804208
44	CSNK1G3	0.82644994
45	DDR2	0.81661601
46	PDGFRB	0.80473905
47	PTK6	0.80053767
48	KDR	0.77645143
49	KSR2	0.77127108
50	BRD4	0.77106881
51	MARK1	0.76501648
52	LIMK1	0.74935297
53	PAK2	0.74147074
54	EEF2K	0.73657380
55	CASK	0.72688524
56	PAK6	0.70237932
57	KSR1	0.69233263
58	MAP2K4	0.67424743
59	PTK2B	0.66384737
60	DYRK3	0.65045909
61	SRPK1	0.62284160
62	TTK	0.62011373
63	PLK2	0.61953479
64	MAP3K6	0.61931004
65	RIPK1	0.61773213
66	PLK1	0.61274845
67	NTRK2	0.60828668
68	BCKDK	0.57182773
69	TESK1	0.55656336
70	LATS2	0.55287692
71	MTOR	0.54116382
72	TRIB3	0.54071665
73	RPS6KA2	0.53477374
74	FGFR4	0.53328094
75	STK38	0.52486453
76	CCNB1	0.50630687
77	PRKAA1	0.47491728
78	SRC	0.47026637
79	BRSK1	0.46997392
80	ROCK1	0.46310858
81	CDK9	0.46058143
82	BRSK2	0.45669811
83	EGFR	0.45380600
84	RET	0.44975855
85	MAP3K7	0.44831502
86	DYRK1B	0.44588488
87	PAK3	0.43213950
88	TGFBR1	0.42810609
89	AKT2	0.42410034
90	CDK18	0.37528629
91	CDK6	0.36844873
92	CDK15	0.35508759
93	PRKAA2	0.35416619
94	MST4	0.35077682
95	CDK14	0.34598347
96	TRPM7	0.33856115
97	CDK5	0.30875545
98	ROCK2	0.30873027
99	PRKCE	0.30199056
100	NEK2	0.29398523

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	ECM-receptor interaction_Homo sapiens_hsa04512	2.84837369
2	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	2.43324325
3	Adherens junction_Homo sapiens_hsa04520	2.42999750
4	Steroid biosynthesis_Homo sapiens_hsa00100	2.30490880
5	Focal adhesion_Homo sapiens_hsa04510	1.93906027
6	Complement and coagulation cascades_Homo sapiens_hsa04610	1.78866352
7	Axon guidance_Homo sapiens_hsa04360	1.71498789
8	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	1.70710031
9	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	1.69096457
10	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	1.61092543
11	Dilated cardiomyopathy_Homo sapiens_hsa05414	1.52295190
12	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	1.50445324
13	Basal cell carcinoma_Homo sapiens_hsa05217	1.49582387
14	Biosynthesis of amino acids_Homo sapiens_hsa01230	1.49405559
15	Glycosaminoglycan degradation_Homo sapiens_hsa00531	1.49111105
16	Bacterial invasion of epithelial cells_Homo sapiens_hsa05100	1.47452430
17	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.44942692
18	Hippo signaling pathway_Homo sapiens_hsa04390	1.44670770
19	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	1.39067640
20	Small cell lung cancer_Homo sapiens_hsa05222	1.35421869
21	Tight junction_Homo sapiens_hsa04530	1.27703919
22	Fatty acid biosynthesis_Homo sapiens_hsa00061	1.19065363
23	p53 signaling pathway_Homo sapiens_hsa04115	1.17373629
24	Proteoglycans in cancer_Homo sapiens_hsa05205	1.15007501
25	Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141	1.11625242
26	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.09161559
27	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.08552720
28	Dorso-ventral axis formation_Homo sapiens_hsa04320	1.05412824
29	ABC transporters_Homo sapiens_hsa02010	1.04741036
30	Pentose phosphate pathway_Homo sapiens_hsa00030	1.03085496
31	N-Glycan biosynthesis_Homo sapiens_hsa00510	1.02766595
32	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	1.01972728
33	Vibrio cholerae infection_Homo sapiens_hsa05110	0.99262450
34	Gap junction_Homo sapiens_hsa04540	0.99194611
35	Lysine degradation_Homo sapiens_hsa00310	0.98374677
36	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.98309341
37	Fatty acid metabolism_Homo sapiens_hsa01212	0.97129289
38	Phenylalanine metabolism_Homo sapiens_hsa00360	0.94467259
39	Galactose metabolism_Homo sapiens_hsa00052	0.92542642
40	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.85422002
41	Thyroid hormone signaling pathway_Homo sapiens_hsa04919	0.83743224
42	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.83594546
43	PI3K-Akt signaling pathway_Homo sapiens_hsa04151	0.81372067
44	PPAR signaling pathway_Homo sapiens_hsa03320	0.81371706
45	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.81363533
46	Melanogenesis_Homo sapiens_hsa04916	0.81294765
47	Wnt signaling pathway_Homo sapiens_hsa04310	0.80854854
48	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	0.79837103
49	Central carbon metabolism in cancer_Homo sapiens_hsa05230	0.79157634
50	Fructose and mannose metabolism_Homo sapiens_hsa00051	0.78018902
51	MicroRNAs in cancer_Homo sapiens_hsa05206	0.77477660
52	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.76695091
53	Circadian rhythm_Homo sapiens_hsa04710	0.76185363
54	Amoebiasis_Homo sapiens_hsa05146	0.71311180
55	Carbon metabolism_Homo sapiens_hsa01200	0.70788064
56	Oocyte meiosis_Homo sapiens_hsa04114	0.70350975
57	ErbB signaling pathway_Homo sapiens_hsa04012	0.70268290
58	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	0.69850194
59	AMPK signaling pathway_Homo sapiens_hsa04152	0.69181449
60	Fanconi anemia pathway_Homo sapiens_hsa03460	0.67810837
61	Pathways in cancer_Homo sapiens_hsa05200	0.67205152
62	Regulation of actin cytoskeleton_Homo sapiens_hsa04810	0.66912381
63	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532	0.65820852
64	Notch signaling pathway_Homo sapiens_hsa04330	0.63828284
65	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	0.63574266
66	Chronic myeloid leukemia_Homo sapiens_hsa05220	0.63528402
67	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.60432864
68	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.59841609
69	Arginine and proline metabolism_Homo sapiens_hsa00330	0.59098066
70	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.58696213
71	Taste transduction_Homo sapiens_hsa04742	0.58579555
72	AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933	0.57723740
73	Colorectal cancer_Homo sapiens_hsa05210	0.57426339
74	Thyroid cancer_Homo sapiens_hsa05216	0.56148431
75	Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524	0.55634756
76	Cell cycle_Homo sapiens_hsa04110	0.55372485
77	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.55298835
78	Sulfur relay system_Homo sapiens_hsa04122	0.54469811
79	Pancreatic cancer_Homo sapiens_hsa05212	0.52785561
80	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.50704444
81	Choline metabolism in cancer_Homo sapiens_hsa05231	0.50180442
82	Glutamatergic synapse_Homo sapiens_hsa04724	0.49099122
83	Arginine biosynthesis_Homo sapiens_hsa00220	0.48856646
84	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	0.48520950
85	Insulin signaling pathway_Homo sapiens_hsa04910	0.48363893
86	Fatty acid degradation_Homo sapiens_hsa00071	0.47334911
87	Prion diseases_Homo sapiens_hsa05020	0.45136391
88	Rap1 signaling pathway_Homo sapiens_hsa04015	0.44517798
89	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.44369270
90	Renal cell carcinoma_Homo sapiens_hsa05211	0.43301550
91	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.42761125
92	Glucagon signaling pathway_Homo sapiens_hsa04922	0.42636090
93	GABAergic synapse_Homo sapiens_hsa04727	0.42101965
94	Glioma_Homo sapiens_hsa05214	0.42023585
95	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.41966465
96	beta-Alanine metabolism_Homo sapiens_hsa00410	0.40910178
97	Propanoate metabolism_Homo sapiens_hsa00640	0.40346883
98	Sphingolipid metabolism_Homo sapiens_hsa00600	0.39185703
99	Alcoholism_Homo sapiens_hsa05034	0.38805422
100	Endometrial cancer_Homo sapiens_hsa05213	0.38642140

CNTNAP3P2

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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