ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	central nervous system myelination (GO:0022010)	7.88039650
2	axon ensheathment in central nervous system (GO:0032291)	7.88039650
3	fatty acid elongation (GO:0030497)	6.09308028
4	long-chain fatty acid biosynthetic process (GO:0042759)	5.94743249
5	myelination (GO:0042552)	4.92755356
6	axon ensheathment (GO:0008366)	4.85248816
7	ensheathment of neurons (GO:0007272)	4.85248816
8	negative regulation of neurotransmitter transport (GO:0051589)	4.72135756
9	glycerophospholipid catabolic process (GO:0046475)	4.63365886
10	negative regulation of protein localization to cell surface (GO:2000009)	4.55748601
11	presynaptic membrane assembly (GO:0097105)	4.49110139
12	presynaptic membrane organization (GO:0097090)	4.40092036
13	dopamine biosynthetic process (GO:0042416)	4.25157919
14	cholesterol biosynthetic process (GO:0006695)	4.16083698
15	neuron cell-cell adhesion (GO:0007158)	4.14790573
16	negative regulation of neurotransmitter secretion (GO:0046929)	4.14560505
17	limb bud formation (GO:0060174)	4.04376412
18	cerebral cortex radially oriented cell migration (GO:0021799)	3.91317090
19	isoprenoid biosynthetic process (GO:0008299)	3.82283002
20	photoreceptor cell differentiation (GO:0046530)	3.78086660
21	eye photoreceptor cell differentiation (GO:0001754)	3.78086660
22	sterol biosynthetic process (GO:0016126)	3.75684672
23	L-amino acid import (GO:0043092)	3.66948897
24	* lens development in camera-type eye (GO:0002088)	3.56385387
25	regulation of collateral sprouting (GO:0048670)	3.52943939
26	oligodendrocyte differentiation (GO:0048709)	3.46787044
27	transmission of nerve impulse (GO:0019226)	3.37160576
28	regulation of dopamine metabolic process (GO:0042053)	3.35033989
29	regulation of catecholamine metabolic process (GO:0042069)	3.35033989
30	response to redox state (GO:0051775)	3.31463477
31	preassembly of GPI anchor in ER membrane (GO:0016254)	3.29398741
32	neuron recognition (GO:0008038)	3.25954751
33	GPI anchor biosynthetic process (GO:0006506)	3.24382114
34	establishment of mitochondrion localization (GO:0051654)	3.23101493
35	import into cell (GO:0098657)	3.17741891
36	GPI anchor metabolic process (GO:0006505)	3.12175647
37	neuron remodeling (GO:0016322)	3.09168072
38	positive regulation of action potential (GO:0045760)	3.08722424
39	cellular response to epinephrine stimulus (GO:0071872)	3.06582376
40	dendritic spine morphogenesis (GO:0060997)	2.97445126
41	substantia nigra development (GO:0021762)	2.94246950
42	ionotropic glutamate receptor signaling pathway (GO:0035235)	2.94062469
43	histone H2B ubiquitination (GO:0033523)	2.94018203
44	lateral sprouting from an epithelium (GO:0060601)	2.92445989
45	microtubule polymerization or depolymerization (GO:0031109)	2.91839048
46	response to epinephrine (GO:0071871)	2.90966485
47	negative regulation of execution phase of apoptosis (GO:1900118)	2.90877528
48	amino acid import (GO:0043090)	2.83068130
49	catecholamine biosynthetic process (GO:0042423)	2.79903932
50	catechol-containing compound biosynthetic process (GO:0009713)	2.79903932
51	axonal fasciculation (GO:0007413)	2.79558521
52	astrocyte development (GO:0014002)	2.78242366
53	nucleotide transmembrane transport (GO:1901679)	2.76005082
54	negative regulation of peptidyl-threonine phosphorylation (GO:0010801)	2.75473146
55	gamma-aminobutyric acid signaling pathway (GO:0007214)	2.72907279
56	cranial nerve morphogenesis (GO:0021602)	2.72677645
57	retina layer formation (GO:0010842)	2.72127814
58	adult walking behavior (GO:0007628)	2.71586501
59	positive regulation of oligodendrocyte differentiation (GO:0048714)	2.70738829
60	glutamate receptor signaling pathway (GO:0007215)	2.70589314
61	cranial nerve development (GO:0021545)	2.69163439
62	regulation of feeding behavior (GO:0060259)	2.68897358
63	magnesium ion transport (GO:0015693)	2.67062275
64	positive regulation of synapse assembly (GO:0051965)	2.67052137
65	response to methylmercury (GO:0051597)	2.64001554
66	neuronal action potential propagation (GO:0019227)	2.63693245
67	negative regulation of axonogenesis (GO:0050771)	2.61025845
68	protein neddylation (GO:0045116)	2.59219521
69	negative regulation of axon extension (GO:0030517)	2.58671893
70	regulation of somitogenesis (GO:0014807)	2.57635145
71	protein palmitoylation (GO:0018345)	2.57001066
72	keratinocyte development (GO:0003334)	2.55752087
73	positive regulation of cellular amine metabolic process (GO:0033240)	2.54500083
74	apical protein localization (GO:0045176)	2.52451611
75	dopamine transport (GO:0015872)	2.52381897
76	polyol transport (GO:0015791)	2.52211091
77	developmental pigmentation (GO:0048066)	2.51288644
78	glycolipid biosynthetic process (GO:0009247)	2.50638351
79	startle response (GO:0001964)	2.50588148
80	asymmetric protein localization (GO:0008105)	2.49612667
81	long-chain fatty-acyl-CoA metabolic process (GO:0035336)	2.48584476
82	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	2.48331508
83	myelination in peripheral nervous system (GO:0022011)	2.47853408
84	peripheral nervous system axon ensheathment (GO:0032292)	2.47853408
85	dendrite development (GO:0016358)	2.46325196
86	regulation of pigment cell differentiation (GO:0050932)	2.45121770
87	long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)	2.45057621
88	negative regulation of exocytosis (GO:0045920)	2.44520014
89	spinal cord motor neuron differentiation (GO:0021522)	2.44307019
90	neuronal ion channel clustering (GO:0045161)	2.42789083
91	righting reflex (GO:0060013)	2.40312748
92	nonmotile primary cilium assembly (GO:0035058)	2.40125415
93	negative regulation of myoblast differentiation (GO:0045662)	2.37794614
94	forebrain neuron differentiation (GO:0021879)	2.37616530
95	peripheral nervous system development (GO:0007422)	2.36844500
96	membrane assembly (GO:0071709)	2.35410975
97	head development (GO:0060322)	2.34823274
98	neural nucleus development (GO:0048857)	2.34229052
99	neuron-neuron synaptic transmission (GO:0007270)	2.33669971
100	positive regulation of meiosis (GO:0045836)	2.32234549

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	EZH2_22144423_ChIP-Seq_EOC_Human	4.43528939
2	GBX2_23144817_ChIP-Seq_PC3_Human	3.81335700
3	JARID2_20064375_ChIP-Seq_MESCs_Mouse	2.57310077
4	TAF15_26573619_Chip-Seq_HEK293_Human	2.54057941
5	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.47537430
6	EZH2_27304074_Chip-Seq_ESCs_Mouse	2.40912125
7	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	2.39890205
8	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.35045893
9	EED_16625203_ChIP-ChIP_MESCs_Mouse	2.26621940
10	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.26443778
11	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	2.23925709
12	CBX2_27304074_Chip-Seq_ESCs_Mouse	2.22400259
13	BMI1_23680149_ChIP-Seq_NPCS_Mouse	2.14126531
14	VDR_22108803_ChIP-Seq_LS180_Human	2.08111073
15	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	2.07678380
16	SUZ12_18974828_ChIP-Seq_MESCs_Mouse	2.06766409
17	SUZ12_18692474_ChIP-Seq_MEFs_Mouse	2.03717153
18	RNF2_18974828_ChIP-Seq_MESCs_Mouse	2.01029137
19	EZH2_18974828_ChIP-Seq_MESCs_Mouse	2.01029137
20	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.99481248
21	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.97005521
22	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.96327753
23	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.93410901
24	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.84943675
25	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.84360020
26	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.83586148
27	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.82888796
28	FUS_26573619_Chip-Seq_HEK293_Human	1.79767902
29	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.78593682
30	PHC1_16625203_ChIP-ChIP_MESCs_Mouse	1.78518756
31	RNF2_27304074_Chip-Seq_ESCs_Mouse	1.77940309
32	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.74309522
33	MTF2_20144788_ChIP-Seq_MESCs_Mouse	1.72725640
34	CDX2_19796622_ChIP-Seq_MESCs_Mouse	1.72462159
35	ER_23166858_ChIP-Seq_MCF-7_Human	1.69968056
36	SUZ12_20075857_ChIP-Seq_MESCs_Mouse	1.68054715
37	P300_19829295_ChIP-Seq_ESCs_Human	1.67938208
38	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.67910142
39	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.67714143
40	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	1.67599878
41	SUZ12_27294783_Chip-Seq_ESCs_Mouse	1.66021367
42	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.65482145
43	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.61547441
44	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.58878297
45	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.53665013
46	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.52401709
47	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.51316530
48	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.50213121
49	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.49903325
50	AR_21572438_ChIP-Seq_LNCaP_Human	1.47513510
51	RNF2_27304074_Chip-Seq_NSC_Mouse	1.44132000
52	CMYC_18555785_Chip-Seq_ESCs_Mouse	1.42115285
53	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.40753449
54	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	1.39003737
55	SUZ12_18555785_Chip-Seq_ESCs_Mouse	1.38762297
56	SMAD4_21799915_ChIP-Seq_A2780_Human	1.38416047
57	VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human	1.36505313
58	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.36045356
59	E2F1_18555785_Chip-Seq_ESCs_Mouse	1.35806140
60	P53_22387025_ChIP-Seq_ESCs_Mouse	1.35432652
61	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.34476574
62	DROSHA_22980978_ChIP-Seq_HELA_Human	1.34122098
63	P300_18555785_Chip-Seq_ESCs_Mouse	1.33293895
64	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.33238746
65	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.32330452
66	IGF1R_20145208_ChIP-Seq_DFB_Human	1.31420422
67	EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse	1.31318125
68	WT1_19549856_ChIP-ChIP_CCG9911_Human	1.27947638
69	STAT3_18555785_Chip-Seq_ESCs_Mouse	1.27735524
70	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.25734978
71	STAT3_23295773_ChIP-Seq_U87_Human	1.25280829
72	RUNX1_27457419_Chip-Seq_LIVER_Mouse	1.25025229
73	TP53_18474530_ChIP-ChIP_U2OS_Human	1.24978999
74	REST_21632747_ChIP-Seq_MESCs_Mouse	1.24883395
75	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.23930505
76	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.23586570
77	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.22157878
78	TAL1_26923725_Chip-Seq_HPCs_Mouse	1.21178221
79	SOX2_18555785_Chip-Seq_ESCs_Mouse	1.18431047
80	RUNX2_22187159_ChIP-Seq_PCA_Human	1.17443995
81	TCF4_23295773_ChIP-Seq_U87_Human	1.16884277
82	EWS_26573619_Chip-Seq_HEK293_Human	1.16791354
83	POU5F1_16153702_ChIP-ChIP_HESCs_Human	1.16790707
84	KLF4_18555785_Chip-Seq_ESCs_Mouse	1.16629913
85	TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.16614221
86	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.16145888
87	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.16145888
88	STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse	1.14866950
89	OCT4_18555785_Chip-Seq_ESCs_Mouse	1.14606603
90	NMYC_18555785_Chip-Seq_ESCs_Mouse	1.14548462
91	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.12832506
92	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.08542693
93	SMAD1_18555785_Chip-Seq_ESCs_Mouse	1.08228713
94	ZFX_18555785_Chip-Seq_ESCs_Mouse	1.07192972
95	TP53_16413492_ChIP-PET_HCT116_Human	1.06355143
96	P53_22127205_ChIP-Seq_FIBROBLAST_Human	1.06082843
97	PU1_27457419_Chip-Seq_LIVER_Mouse	1.05728504
98	IRF1_19129219_ChIP-ChIP_H3396_Human	1.05351953
99	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	1.02490691
100	CTCF_18555785_Chip-Seq_ESCs_Mouse	1.02310458

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003880_abnormal_central_pattern	4.35517409
2	MP0000920_abnormal_myelination	3.35002682
3	MP0004742_abnormal_vestibular_system	2.89124312
4	MP0005409_darkened_coat_color	2.81711084
5	MP0004270_analgesia	2.77709883
6	MP0001486_abnormal_startle_reflex	2.70784476
7	MP0001905_abnormal_dopamine_level	2.69869071
8	MP0005423_abnormal_somatic_nervous	2.58513764
9	MP0003136_yellow_coat_color	2.52876321
10	MP0005171_absent_coat_pigmentation	2.41150891
11	MP0001529_abnormal_vocalization	2.39387039
12	MP0000778_abnormal_nervous_system	2.36510531
13	MP0000566_synostosis	2.36445429
14	MP0001188_hyperpigmentation	2.32214521
15	MP0002272_abnormal_nervous_system	2.29098475
16	MP0002102_abnormal_ear_morphology	2.25610868
17	MP0001485_abnormal_pinna_reflex	2.11757652
18	MP0004142_abnormal_muscle_tone	1.97392692
19	MP0002064_seizures	1.92933911
20	MP0009745_abnormal_behavioral_response	1.92166714
21	MP0003635_abnormal_synaptic_transmissio	1.83089415
22	MP0004859_abnormal_synaptic_plasticity	1.80823397
23	MP0006292_abnormal_olfactory_placode	1.79426279
24	MP0003950_abnormal_plasma_membrane	1.75351607
25	MP0002734_abnormal_mechanical_nocicepti	1.73575597
26	MP0003787_abnormal_imprinting	1.72085788
27	MP0003938_abnormal_ear_development	1.69401861
28	MP0009046_muscle_twitch	1.67364824
29	MP0002572_abnormal_emotion/affect_behav	1.65839392
30	MP0005551_abnormal_eye_electrophysiolog	1.65502849
31	MP0005451_abnormal_body_composition	1.53770315
32	MP0001963_abnormal_hearing_physiology	1.51572703
33	MP0000026_abnormal_inner_ear	1.50950695
34	MP0001440_abnormal_grooming_behavior	1.50071510
35	MP0006276_abnormal_autonomic_nervous	1.49524888
36	MP0002067_abnormal_sensory_capabilities	1.48660676
37	MP0002735_abnormal_chemical_nociception	1.48007727
38	MP0002063_abnormal_learning/memory/cond	1.47817308
39	MP0000462_abnormal_digestive_system	1.47783370
40	MP0004381_abnormal_hair_follicle	1.46356213
41	MP0004885_abnormal_endolymph	1.45204139
42	MP0003690_abnormal_glial_cell	1.44859358
43	MP0000383_abnormal_hair_follicle	1.38098303
44	MP0003632_abnormal_nervous_system	1.32895371
45	MP0001968_abnormal_touch/_nociception	1.31117502
46	MP0001986_abnormal_taste_sensitivity	1.30712898
47	MP0005253_abnormal_eye_physiology	1.29251238
48	MP0002882_abnormal_neuron_morphology	1.28844665
49	MP0001346_abnormal_lacrimal_gland	1.28777479
50	MP0002229_neurodegeneration	1.27602088
51	MP0000955_abnormal_spinal_cord	1.27506521
52	MP0002752_abnormal_somatic_nervous	1.27184060
53	MP0006072_abnormal_retinal_apoptosis	1.25936722
54	MP0005379_endocrine/exocrine_gland_phen	1.24973757
55	MP0009250_abnormal_appendicular_skeleto	1.23289325
56	MP0005645_abnormal_hypothalamus_physiol	1.22348597
57	MP0003937_abnormal_limbs/digits/tail_de	1.21851642
58	MP0003634_abnormal_glial_cell	1.21491697
59	MP0004134_abnormal_chest_morphology	1.20064547
60	MP0002184_abnormal_innervation	1.18314968
61	MP0002736_abnormal_nociception_after	1.17488183
62	MP0003122_maternal_imprinting	1.16274578
63	MP0001970_abnormal_pain_threshold	1.15358974
64	MP0002557_abnormal_social/conspecific_i	1.11417600
65	MP0002066_abnormal_motor_capabilities/c	1.11343208
66	MP0002938_white_spotting	1.10487743
67	MP0003329_amyloid_beta_deposits	1.10267084
68	MP0000631_abnormal_neuroendocrine_gland	1.09643280
69	MP0004924_abnormal_behavior	1.09218815
70	MP0005386_behavior/neurological_phenoty	1.09218815
71	MP0002733_abnormal_thermal_nociception	1.04912604
72	MP0005410_abnormal_fertilization	1.04261707
73	MP0010678_abnormal_skin_adnexa	1.03878481
74	MP0000762_abnormal_tongue_morphology	1.02545470
75	* MP0002697_abnormal_eye_size	1.00801254
76	MP0003385_abnormal_body_wall	1.00491390
77	MP0002233_abnormal_nose_morphology	0.99220580
78	MP0000049_abnormal_middle_ear	0.98319375
79	* MP0005195_abnormal_posterior_eye	0.97455749
80	MP0001501_abnormal_sleep_pattern	0.95793398
81	MP0002163_abnormal_gland_morphology	0.94193990
82	MP0003631_nervous_system_phenotype	0.93316793
83	MP0000647_abnormal_sebaceous_gland	0.89146138
84	MP0002152_abnormal_brain_morphology	0.86963424
85	MP0002249_abnormal_larynx_morphology	0.86917029
86	MP0001299_abnormal_eye_distance/	0.84773399
87	MP0005646_abnormal_pituitary_gland	0.83208874
88	MP0003121_genomic_imprinting	0.82520606
89	MP0002638_abnormal_pupillary_reflex	0.82105535
90	MP0001664_abnormal_digestion	0.81600117
91	MP0002277_abnormal_respiratory_mucosa	0.75587248
92	MP0000372_irregular_coat_pigmentation	0.75281181
93	MP0001177_atelectasis	0.75233459
94	MP0004145_abnormal_muscle_electrophysio	0.75132437
95	MP0009379_abnormal_foot_pigmentation	0.74363422
96	MP0008569_lethality_at_weaning	0.74131171
97	MP0003137_abnormal_impulse_conducting	0.74100912
98	MP0001502_abnormal_circadian_rhythm	0.73734297
99	MP0004133_heterotaxia	0.73147063
100	MP0002751_abnormal_autonomic_nervous	0.70818372

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Degeneration of the lateral corticospinal tracts (HP:0002314)	5.53823055
2	Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)	5.53823055
3	Nuclear cataract (HP:0100018)	5.12489730
4	Parakeratosis (HP:0001036)	5.03323438
5	Zonular cataract (HP:0010920)	4.58829241
6	Neurofibrillary tangles (HP:0002185)	4.00490794
7	Abnormality of the corticospinal tract (HP:0002492)	3.89161503
8	Congenital nonbullous ichthyosiform erythroderma (HP:0007479)	3.54314012
9	Anomalous pulmonary venous return (HP:0010772)	3.09380836
10	Sensory axonal neuropathy (HP:0003390)	2.99961543
11	Cerebral inclusion bodies (HP:0100314)	2.88446030
12	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.84839420
13	Absent/shortened dynein arms (HP:0200106)	2.84839420
14	Retinal dysplasia (HP:0007973)	2.84145837
15	Patchy hypopigmentation of hair (HP:0011365)	2.75945988
16	White forelock (HP:0002211)	2.73045287
17	Corneal dystrophy (HP:0001131)	2.70762259
18	Abnormality of the pulmonary veins (HP:0011718)	2.69591478
19	Duplicated collecting system (HP:0000081)	2.65678811
20	Focal motor seizures (HP:0011153)	2.65537771
21	Thickened helices (HP:0000391)	2.60348477
22	Absent septum pellucidum (HP:0001331)	2.52382524
23	Cupped ear (HP:0000378)	2.52327011
24	Congenital sensorineural hearing impairment (HP:0008527)	2.49338079
25	Adrenal hypoplasia (HP:0000835)	2.49022081
26	Spastic gait (HP:0002064)	2.47949791
27	Partial duplication of thumb phalanx (HP:0009944)	2.47217556
28	Abnormality of the renal collecting system (HP:0004742)	2.46703085
29	Limb dystonia (HP:0002451)	2.45366229
30	Aplasia of the musculature (HP:0100854)	2.42944582
31	Termporal pattern (HP:0011008)	2.37756529
32	Insidious onset (HP:0003587)	2.37756529
33	Supranuclear gaze palsy (HP:0000605)	2.35744380
34	Alacrima (HP:0000522)	2.32097119
35	Clumsiness (HP:0002312)	2.31585615
36	Congenital ichthyosiform erythroderma (HP:0007431)	2.31470815
37	Duplication of thumb phalanx (HP:0009942)	2.30620824
38	Renal Fanconi syndrome (HP:0001994)	2.29765830
39	Bell-shaped thorax (HP:0001591)	2.29254372
40	Akinesia (HP:0002304)	2.28129652
41	Septo-optic dysplasia (HP:0100842)	2.27691661
42	Peripheral hypomyelination (HP:0007182)	2.27481715
43	Abnormality of glycolysis (HP:0004366)	2.26528497
44	Increased serum pyruvate (HP:0003542)	2.26528497
45	Abnormality of the septum pellucidum (HP:0007375)	2.23619619
46	Overfolded helix (HP:0000396)	2.17912458
47	Amblyopia (HP:0000646)	2.14977372
48	Abnormal ciliary motility (HP:0012262)	2.14033920
49	Abnormality of incisor morphology (HP:0011063)	2.14002399
50	Partial duplication of the phalanx of hand (HP:0009999)	2.10834685
51	Abnormality of the phalanges of the 2nd finger (HP:0009541)	2.10669372
52	Split foot (HP:0001839)	2.10636371
53	Aplasia cutis congenita (HP:0001057)	2.09824381
54	Atelectasis (HP:0100750)	2.07758769
55	Abnormal respiratory motile cilium morphology (HP:0005938)	2.07338924
56	Abnormal respiratory epithelium morphology (HP:0012253)	2.07338924
57	Epileptic encephalopathy (HP:0200134)	2.05863546
58	Gastroesophageal reflux (HP:0002020)	2.05452811
59	Dysmetria (HP:0001310)	2.04172967
60	Onion bulb formation (HP:0003383)	2.04166470
61	Myelomeningocele (HP:0002475)	2.04083636
62	Hypophosphatemic rickets (HP:0004912)	2.01288538
63	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	1.98096337
64	Mixed hearing impairment (HP:0000410)	1.96283236
65	Metabolic alkalosis (HP:0200114)	1.94370820
66	Decreased lacrimation (HP:0000633)	1.93010748
67	Prolonged neonatal jaundice (HP:0006579)	1.92440994
68	Conical tooth (HP:0000698)	1.91416701
69	Autoamputation (HP:0001218)	1.90102477
70	Morphological abnormality of the inner ear (HP:0011390)	1.89688647
71	Humeroradial synostosis (HP:0003041)	1.89255242
72	Synostosis involving the elbow (HP:0003938)	1.89255242
73	Hyperventilation (HP:0002883)	1.88822169
74	Steppage gait (HP:0003376)	1.88357900
75	Scanning speech (HP:0002168)	1.87273447
76	Partial agenesis of the corpus callosum (HP:0001338)	1.85586708
77	Acute necrotizing encephalopathy (HP:0006965)	1.83525337
78	Chin dimple (HP:0010751)	1.82329454
79	Abnormally folded helix (HP:0008544)	1.82115694
80	Optic disc pallor (HP:0000543)	1.81792999
81	Leukodystrophy (HP:0002415)	1.81396457
82	Aplasia/Hypoplasia of the lens (HP:0008063)	1.80593840
83	Nasolacrimal duct obstruction (HP:0000579)	1.77658895
84	Methylmalonic acidemia (HP:0002912)	1.77356578
85	Broad-based gait (HP:0002136)	1.76293243
86	Progressive cerebellar ataxia (HP:0002073)	1.75752161
87	Hypoplasia of the iris (HP:0007676)	1.75165008
88	Abnormality of renal resorption (HP:0011038)	1.74558663
89	Vaginal atresia (HP:0000148)	1.72711567
90	Genital tract atresia (HP:0001827)	1.72228007
91	Increased hepatocellular lipid droplets (HP:0006565)	1.70855374
92	Hypoplastic left heart (HP:0004383)	1.70745119
93	Meningocele (HP:0002435)	1.70708941
94	Hypomagnesemia (HP:0002917)	1.68637896
95	Congenital primary aphakia (HP:0007707)	1.68504947
96	Tubulointerstitial nephritis (HP:0001970)	1.68182129
97	Increased circulating renin level (HP:0000848)	1.67996145
98	Hypoplastic heart (HP:0001961)	1.66098731
99	Slow saccadic eye movements (HP:0000514)	1.65479565
100	Medial flaring of the eyebrow (HP:0010747)	1.64677563

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	STK39	4.54328990
2	OXSR1	3.41527950
3	CASK	3.34521966
4	TNIK	3.24433398
5	PNCK	2.56085325
6	EPHB1	2.31551180
7	WNK4	2.28308832
8	PKN1	2.19558422
9	BMPR1B	2.15021510
10	BCR	2.07907389
11	STK16	2.04800288
12	BLK	2.01284070
13	PBK	1.77260144
14	EPHA4	1.72874308
15	MAPKAPK5	1.72470942
16	MARK1	1.69996797
17	WNK1	1.63857768
18	CDK19	1.63426491
19	FGR	1.58350152
20	NEK6	1.56901196
21	MAPK13	1.51795051
22	UHMK1	1.50112781
23	CSNK1G3	1.41710984
24	CSNK1A1L	1.38112411
25	MAP2K7	1.35843156
26	CLK1	1.35123742
27	CAMK2B	1.32772068
28	NTRK3	1.28984861
29	DYRK2	1.24304487
30	FGFR2	1.20044261
31	CSNK1G1	1.14542762
32	IRAK2	1.13670856
33	PRPF4B	1.10398664
34	BMPR2	1.08198260
35	ROCK2	1.06100333
36	CSNK1G2	1.02618271
37	MKNK2	1.02520177
38	ADRBK2	1.01410604
39	MUSK	1.01253174
40	PLK2	1.00943916
41	CAMK2A	1.00027281
42	MKNK1	0.99901066
43	GRK7	0.99343205
44	INSRR	0.97976261
45	CAMK2D	0.96660641
46	GRK1	0.95779927
47	PRKCE	0.88674015
48	PRKCQ	0.85072372
49	SGK494	0.84420563
50	SGK223	0.84420563
51	PAK6	0.83097222
52	FES	0.80853475
53	MST4	0.80742117
54	EIF2AK2	0.80291927
55	MARK2	0.79562390
56	MAP3K4	0.79169807
57	DYRK1A	0.77918747
58	NTRK2	0.77806316
59	PAK3	0.77617704
60	NTRK1	0.72259236
61	MET	0.71997624
62	PIK3CA	0.71828292
63	YES1	0.70655796
64	CDK5	0.70256931
65	CAMK1G	0.69097599
66	PRKG1	0.66870984
67	CDK3	0.66005487
68	IRAK1	0.65233524
69	IRAK4	0.64207074
70	ICK	0.64012364
71	CAMK2G	0.63262648
72	NME1	0.63067223
73	BRD4	0.61238215
74	NUAK1	0.60851521
75	WNK3	0.58451328
76	SGK1	0.57356647
77	RPS6KA5	0.56347883
78	GRK5	0.53512519
79	DDR2	0.53237514
80	CDK14	0.52584044
81	CDK15	0.49349438
82	CDK18	0.48052282
83	ADRBK1	0.47650631
84	FYN	0.45575596
85	CDK11A	0.45304005
86	PRKACA	0.44371894
87	MAPK15	0.41804193
88	CSNK1A1	0.41151269
89	TLK1	0.40490343
90	CSNK1D	0.39797748
91	PRKACB	0.39686491
92	ZAK	0.39510421
93	PHKG2	0.39115334
94	PHKG1	0.39115334
95	MAP3K14	0.38315629
96	OBSCN	0.37331957
97	ERBB4	0.36417221
98	TXK	0.35927297
99	DMPK	0.35054779
100	TNK2	0.33742181

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	4.81625507
2	Steroid biosynthesis_Homo sapiens_hsa00100	3.84407256
3	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	3.51807193
4	Fatty acid elongation_Homo sapiens_hsa00062	3.44249744
5	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.78865115
6	Ether lipid metabolism_Homo sapiens_hsa00565	2.76381695
7	Nicotine addiction_Homo sapiens_hsa05033	2.50598698
8	Oxidative phosphorylation_Homo sapiens_hsa00190	2.17673669
9	Serotonergic synapse_Homo sapiens_hsa04726	2.02555443
10	Axon guidance_Homo sapiens_hsa04360	1.91496580
11	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.83975235
12	Sphingolipid metabolism_Homo sapiens_hsa00600	1.80709409
13	Protein export_Homo sapiens_hsa03060	1.78800020
14	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.73999850
15	Glutamatergic synapse_Homo sapiens_hsa04724	1.72598529
16	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	1.71018481
17	Alzheimers disease_Homo sapiens_hsa05010	1.59060894
18	Linoleic acid metabolism_Homo sapiens_hsa00591	1.58030215
19	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	1.56043559
20	Parkinsons disease_Homo sapiens_hsa05012	1.52982694
21	Taste transduction_Homo sapiens_hsa04742	1.51958826
22	Phototransduction_Homo sapiens_hsa04744	1.49928859
23	Morphine addiction_Homo sapiens_hsa05032	1.48425684
24	GABAergic synapse_Homo sapiens_hsa04727	1.40320798
25	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.35851573
26	Long-term depression_Homo sapiens_hsa04730	1.34073127
27	Autoimmune thyroid disease_Homo sapiens_hsa05320	1.34033797
28	Cocaine addiction_Homo sapiens_hsa05030	1.28695286
29	Butanoate metabolism_Homo sapiens_hsa00650	1.16307672
30	Histidine metabolism_Homo sapiens_hsa00340	1.16161024
31	Sulfur metabolism_Homo sapiens_hsa00920	1.16019606
32	Collecting duct acid secretion_Homo sapiens_hsa04966	1.14842314
33	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	1.12143537
34	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.07409156
35	Circadian entrainment_Homo sapiens_hsa04713	1.05389338
36	Dopaminergic synapse_Homo sapiens_hsa04728	1.05361770
37	Amphetamine addiction_Homo sapiens_hsa05031	1.00284942
38	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.90408632
39	Huntingtons disease_Homo sapiens_hsa05016	0.87765917
40	Salivary secretion_Homo sapiens_hsa04970	0.87124879
41	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.87051458
42	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.86606385
43	Cardiac muscle contraction_Homo sapiens_hsa04260	0.84845602
44	Rheumatoid arthritis_Homo sapiens_hsa05323	0.84712568
45	Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120	0.82995356
46	Cholinergic synapse_Homo sapiens_hsa04725	0.82453148
47	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.79555395
48	Non-homologous end-joining_Homo sapiens_hsa03450	0.79215516
49	Calcium signaling pathway_Homo sapiens_hsa04020	0.78649977
50	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.77090184
51	Ras signaling pathway_Homo sapiens_hsa04014	0.74274884
52	Sphingolipid signaling pathway_Homo sapiens_hsa04071	0.74089328
53	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.73147679
54	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.73142523
55	Vibrio cholerae infection_Homo sapiens_hsa05110	0.65853073
56	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.64504275
57	Renin secretion_Homo sapiens_hsa04924	0.64340886
58	Arginine and proline metabolism_Homo sapiens_hsa00330	0.63526567
59	Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923	0.56014411
60	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.53259297
61	cAMP signaling pathway_Homo sapiens_hsa04024	0.52304910
62	Renal cell carcinoma_Homo sapiens_hsa05211	0.51883423
63	Wnt signaling pathway_Homo sapiens_hsa04310	0.51881835
64	Tight junction_Homo sapiens_hsa04530	0.51390345
65	Long-term potentiation_Homo sapiens_hsa04720	0.50968736
66	Gastric acid secretion_Homo sapiens_hsa04971	0.50432106
67	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	0.49379660
68	Pancreatic secretion_Homo sapiens_hsa04972	0.48861045
69	Phagosome_Homo sapiens_hsa04145	0.45485612
70	Insulin secretion_Homo sapiens_hsa04911	0.45022053
71	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.44842828
72	Phospholipase D signaling pathway_Homo sapiens_hsa04072	0.44817503
73	Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750	0.44782993
74	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.44663741
75	ErbB signaling pathway_Homo sapiens_hsa04012	0.44067819
76	ECM-receptor interaction_Homo sapiens_hsa04512	0.43326161
77	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.42867500
78	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.41903209
79	Fanconi anemia pathway_Homo sapiens_hsa03460	0.41051428
80	Choline metabolism in cancer_Homo sapiens_hsa05231	0.40356255
81	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.40157621
82	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.39619163
83	Mineral absorption_Homo sapiens_hsa04978	0.38484767
84	African trypanosomiasis_Homo sapiens_hsa05143	0.37669038
85	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.37344283
86	Basal cell carcinoma_Homo sapiens_hsa05217	0.35871538
87	Olfactory transduction_Homo sapiens_hsa04740	0.35764723
88	Melanogenesis_Homo sapiens_hsa04916	0.35521218
89	Tyrosine metabolism_Homo sapiens_hsa00350	0.35290509
90	Regulation of actin cytoskeleton_Homo sapiens_hsa04810	0.35224596
91	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	0.34835113
92	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	0.34829670
93	Alcoholism_Homo sapiens_hsa05034	0.33432492
94	Graft-versus-host disease_Homo sapiens_hsa05332	0.33356304
95	MAPK signaling pathway_Homo sapiens_hsa04010	0.32413310
96	Metabolic pathways_Homo sapiens_hsa01100	0.32170835
97	Dilated cardiomyopathy_Homo sapiens_hsa05414	0.31474378
98	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.31136222
99	Retinol metabolism_Homo sapiens_hsa00830	0.30067915
100	Allograft rejection_Homo sapiens_hsa05330	0.29172343

GJE1

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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