ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	behavioral response to nicotine (GO:0035095)	5.24669673
2	response to pheromone (GO:0019236)	4.43979121
3	L-fucose catabolic process (GO:0042355)	4.32322803
4	fucose catabolic process (GO:0019317)	4.32322803
5	L-fucose metabolic process (GO:0042354)	4.32322803
6	indole-containing compound catabolic process (GO:0042436)	3.82441296
7	indolalkylamine catabolic process (GO:0046218)	3.82441296
8	tryptophan catabolic process (GO:0006569)	3.82441296
9	negative regulation of mast cell activation (GO:0033004)	3.77876974
10	DNA deamination (GO:0045006)	3.73845005
11	platelet dense granule organization (GO:0060155)	3.68756420
12	kynurenine metabolic process (GO:0070189)	3.65677703
13	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.58356644
14	NADH dehydrogenase complex assembly (GO:0010257)	3.58356644
15	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.58356644
16	cellular ketone body metabolic process (GO:0046950)	3.58327705
17	indolalkylamine metabolic process (GO:0006586)	3.55988921
18	preassembly of GPI anchor in ER membrane (GO:0016254)	3.50730044
19	respiratory chain complex IV assembly (GO:0008535)	3.44269286
20	axoneme assembly (GO:0035082)	3.43816485
21	protein localization to cilium (GO:0061512)	3.40263883
22	protein complex biogenesis (GO:0070271)	3.39845298
23	protein polyglutamylation (GO:0018095)	3.29355064
24	water-soluble vitamin biosynthetic process (GO:0042364)	3.27946246
25	ketone body metabolic process (GO:1902224)	3.24354868
26	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.23663915
27	protein-cofactor linkage (GO:0018065)	3.20109270
28	piRNA metabolic process (GO:0034587)	3.18052275
29	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.15306951
30	tryptophan metabolic process (GO:0006568)	3.13634831
31	peptidyl-histidine modification (GO:0018202)	3.11762258
32	regulation of hexokinase activity (GO:1903299)	3.10414072
33	regulation of glucokinase activity (GO:0033131)	3.10414072
34	negative regulation of telomere maintenance (GO:0032205)	3.09080361
35	kidney morphogenesis (GO:0060993)	3.07761137
36	mannosylation (GO:0097502)	3.06583430
37	protein K11-linked deubiquitination (GO:0035871)	3.05175598
38	mitochondrial respiratory chain complex assembly (GO:0033108)	3.01528748
39	behavioral response to ethanol (GO:0048149)	2.98944993
40	rRNA catabolic process (GO:0016075)	2.98813159
41	GPI anchor metabolic process (GO:0006505)	2.93094809
42	cytochrome complex assembly (GO:0017004)	2.93079575
43	positive regulation of oligodendrocyte differentiation (GO:0048714)	2.91745326
44	detection of light stimulus involved in sensory perception (GO:0050962)	2.90139062
45	detection of light stimulus involved in visual perception (GO:0050908)	2.90139062
46	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	2.85962607
47	negative regulation of cytosolic calcium ion concentration (GO:0051481)	2.85828623
48	sulfation (GO:0051923)	2.84410867
49	retinal cone cell development (GO:0046549)	2.83773256
50	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	2.83113597
51	C4-dicarboxylate transport (GO:0015740)	2.83023792
52	somite development (GO:0061053)	2.81692396
53	amine catabolic process (GO:0009310)	2.81642371
54	cellular biogenic amine catabolic process (GO:0042402)	2.81642371
55	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	2.81591821
56	S-adenosylmethionine metabolic process (GO:0046500)	2.80775867
57	replication fork processing (GO:0031297)	2.80418415
58	regulation of meiosis I (GO:0060631)	2.80398235
59	positive regulation of phosphoprotein phosphatase activity (GO:0032516)	2.78844641
60	gamma-aminobutyric acid transport (GO:0015812)	2.78005256
61	RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	2.77655255
62	epithelial cilium movement (GO:0003351)	2.76484556
63	pyrimidine nucleobase catabolic process (GO:0006208)	2.75745989
64	cilium morphogenesis (GO:0060271)	2.73777459
65	C-terminal protein amino acid modification (GO:0018410)	2.73727909
66	adaptation of signaling pathway (GO:0023058)	2.71869042
67	C-terminal protein lipidation (GO:0006501)	2.71109994
68	cornea development in camera-type eye (GO:0061303)	2.68129619
69	DNA double-strand break processing (GO:0000729)	2.67965003
70	indole-containing compound metabolic process (GO:0042430)	2.67717615
71	neuronal action potential (GO:0019228)	2.65755907
72	protein K6-linked ubiquitination (GO:0085020)	2.64871789
73	regulation of cilium movement (GO:0003352)	2.64761377
74	negative regulation of synaptic transmission, GABAergic (GO:0032229)	2.64572069
75	nonmotile primary cilium assembly (GO:0035058)	2.62020133
76	neural tube formation (GO:0001841)	2.60356448
77	reciprocal DNA recombination (GO:0035825)	2.59342948
78	reciprocal meiotic recombination (GO:0007131)	2.59342948
79	photoreceptor cell development (GO:0042461)	2.58869768
80	anterograde synaptic vesicle transport (GO:0048490)	2.56968200
81	limb bud formation (GO:0060174)	2.53726437
82	positive regulation of prostaglandin secretion (GO:0032308)	2.53688914
83	regulation of neurotransmitter uptake (GO:0051580)	2.52759568
84	photoreceptor cell maintenance (GO:0045494)	2.51969699
85	regulation of nuclear cell cycle DNA replication (GO:0033262)	2.51928216
86	DNA methylation involved in gamete generation (GO:0043046)	2.51252629
87	reflex (GO:0060004)	2.51205216
88	nucleobase catabolic process (GO:0046113)	2.50470864
89	mitotic cell cycle arrest (GO:0071850)	2.49865904
90	regulation of action potential (GO:0098900)	2.48959669
91	double-strand break repair via homologous recombination (GO:0000724)	2.47814732
92	glycosphingolipid biosynthetic process (GO:0006688)	2.47792422
93	recombinational repair (GO:0000725)	2.47092301
94	cilium organization (GO:0044782)	2.45852539
95	synaptic transmission, cholinergic (GO:0007271)	2.45471506
96	regulation of mesoderm development (GO:2000380)	2.44548966
97	positive regulation of fatty acid transport (GO:2000193)	2.41379393
98	fucosylation (GO:0036065)	2.41328332
99	negative regulation of reactive oxygen species metabolic process (GO:2000378)	2.40980623
100	regulation of rhodopsin mediated signaling pathway (GO:0022400)	2.39346954

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	ZNF274_21170338_ChIP-Seq_K562_Hela	4.09604846
2	GBX2_23144817_ChIP-Seq_PC3_Human	2.94633839
3	VDR_22108803_ChIP-Seq_LS180_Human	2.88495394
4	IGF1R_20145208_ChIP-Seq_DFB_Human	2.79289081
5	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.70045484
6	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.65549762
7	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.52370101
8	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.51321607
9	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.23719076
10	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.22048304
11	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.21935096
12	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.19557039
13	P300_19829295_ChIP-Seq_ESCs_Human	2.10330157
14	FUS_26573619_Chip-Seq_HEK293_Human	2.07482907
15	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.07097546
16	EWS_26573619_Chip-Seq_HEK293_Human	2.05143864
17	TAF15_26573619_Chip-Seq_HEK293_Human	2.04580495
18	PCGF2_27294783_Chip-Seq_ESCs_Mouse	2.02089773
19	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.99023515
20	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.91243529
21	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.86821680
22	EZH2_22144423_ChIP-Seq_EOC_Human	1.81548687
23	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.80931057
24	ER_23166858_ChIP-Seq_MCF-7_Human	1.75881026
25	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.75574343
26	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.70017150
27	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.68716028
28	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.64808463
29	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.63795870
30	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.60545740
31	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.58864807
32	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.57253160
33	CBP_20019798_ChIP-Seq_JUKART_Human	1.54345954
34	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.54345954
35	TP53_22573176_ChIP-Seq_HFKS_Human	1.53149386
36	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.52544087
37	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.48935849
38	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.48040071
39	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.47933806
40	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.47911173
41	BCAT_22108803_ChIP-Seq_LS180_Human	1.47312194
42	SMAD4_21799915_ChIP-Seq_A2780_Human	1.45434953
43	AR_25329375_ChIP-Seq_VCAP_Human	1.43842308
44	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.43519345
45	SOX2_19829295_ChIP-Seq_ESCs_Human	1.43010065
46	NANOG_19829295_ChIP-Seq_ESCs_Human	1.43010065
47	MYC_18940864_ChIP-ChIP_HL60_Human	1.42731845
48	STAT3_23295773_ChIP-Seq_U87_Human	1.41432584
49	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.38629262
50	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.38135501
51	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.36683542
52	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.35956013
53	TCF4_22108803_ChIP-Seq_LS180_Human	1.35600533
54	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.34731912
55	TCF4_23295773_ChIP-Seq_U87_Human	1.34257236
56	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.33531909
57	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.33392424
58	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.33392424
59	ELK1_19687146_ChIP-ChIP_HELA_Human	1.33168747
60	IRF1_19129219_ChIP-ChIP_H3396_Human	1.29657263
61	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.26900964
62	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.26844898
63	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.25219069
64	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.24749065
65	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.23630765
66	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.23352751
67	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.20515192
68	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.19996527
69	NCOR_22424771_ChIP-Seq_293T_Human	1.19543464
70	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.18901301
71	RUNX2_22187159_ChIP-Seq_PCA_Human	1.18586935
72	AR_20517297_ChIP-Seq_VCAP_Human	1.17943946
73	VDR_23849224_ChIP-Seq_CD4+_Human	1.16946679
74	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.16623136
75	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.15621191
76	P53_22387025_ChIP-Seq_ESCs_Mouse	1.14090818
77	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.14064800
78	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.14064800
79	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.13465174
80	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.13002967
81	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.12708515
82	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.12262099
83	REST_21632747_ChIP-Seq_MESCs_Mouse	1.12081699
84	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.11983084
85	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.11610432
86	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.11190898
87	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.10491472
88	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.09995676
89	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.09986652
90	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.09229009
91	STAT3_18555785_Chip-Seq_ESCs_Mouse	1.06346290
92	HOXB7_26014856_ChIP-Seq_BT474_Human	1.05909650
93	RNF2_27304074_Chip-Seq_NSC_Mouse	1.05084969
94	AR_21572438_ChIP-Seq_LNCaP_Human	1.04537843
95	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.03855771
96	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.02614275
97	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.01240903
98	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	0.97470319
99	FOXH1_21741376_ChIP-Seq_EPCs_Human	0.97009307
100	P300_18555785_Chip-Seq_ESCs_Mouse	0.96726722

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002102_abnormal_ear_morphology	3.15978609
2	MP0008877_abnormal_DNA_methylation	3.09035105
3	MP0002837_dystrophic_cardiac_calcinosis	2.82947206
4	MP0003195_calcinosis	2.78089589
5	MP0006072_abnormal_retinal_apoptosis	2.66309093
6	MP0005551_abnormal_eye_electrophysiolog	2.51147015
7	MP0001968_abnormal_touch/_nociception	2.38738551
8	MP0000569_abnormal_digit_pigmentation	2.24133525
9	MP0002876_abnormal_thyroid_physiology	2.23387422
10	MP0001986_abnormal_taste_sensitivity	2.19315621
11	MP0005253_abnormal_eye_physiology	2.14006697
12	MP0004043_abnormal_pH_regulation	2.13848676
13	MP0004147_increased_porphyrin_level	2.12550424
14	MP0003646_muscle_fatigue	2.04860624
15	MP0003011_delayed_dark_adaptation	2.02230933
16	MP0002736_abnormal_nociception_after	1.95158838
17	MP0009046_muscle_twitch	1.92701708
18	MP0009745_abnormal_behavioral_response	1.90450267
19	MP0005646_abnormal_pituitary_gland	1.90113198
20	MP0000427_abnormal_hair_cycle	1.84552935
21	MP0002638_abnormal_pupillary_reflex	1.84210295
22	MP0003787_abnormal_imprinting	1.82057128
23	MP0004142_abnormal_muscle_tone	1.80241306
24	MP0008872_abnormal_physiological_respon	1.80152494
25	MP0003136_yellow_coat_color	1.76936768
26	MP0000372_irregular_coat_pigmentation	1.68945020
27	MP0008875_abnormal_xenobiotic_pharmacok	1.68801431
28	MP0005645_abnormal_hypothalamus_physiol	1.68686393
29	MP0003880_abnormal_central_pattern	1.65898563
30	MP0006292_abnormal_olfactory_placode	1.63597811
31	MP0004885_abnormal_endolymph	1.63145117
32	MP0002272_abnormal_nervous_system	1.56459551
33	MP0002234_abnormal_pharynx_morphology	1.54967419
34	MP0000631_abnormal_neuroendocrine_gland	1.53994341
35	MP0005075_abnormal_melanosome_morpholog	1.49662637
36	MP0001529_abnormal_vocalization	1.46336182
37	MP0002163_abnormal_gland_morphology	1.45548448
38	MP0004133_heterotaxia	1.40527965
39	MP0001501_abnormal_sleep_pattern	1.35967049
40	MP0002653_abnormal_ependyma_morphology	1.34331642
41	MP0001486_abnormal_startle_reflex	1.33762787
42	MP0002938_white_spotting	1.31585160
43	MP0001485_abnormal_pinna_reflex	1.26259598
44	MP0002751_abnormal_autonomic_nervous	1.23778471
45	MP0004924_abnormal_behavior	1.23595146
46	MP0005386_behavior/neurological_phenoty	1.23595146
47	MP0006276_abnormal_autonomic_nervous	1.23108494
48	MP0000383_abnormal_hair_follicle	1.21333458
49	MP0001984_abnormal_olfaction	1.21074639
50	MP0002064_seizures	1.20987400
51	MP0005084_abnormal_gallbladder_morpholo	1.20984079
52	MP0005174_abnormal_tail_pigmentation	1.20534889
53	MP0005379_endocrine/exocrine_gland_phen	1.19810432
54	MP0002160_abnormal_reproductive_system	1.18197734
55	MP0002572_abnormal_emotion/affect_behav	1.13861232
56	MP0005085_abnormal_gallbladder_physiolo	1.12711477
57	MP0005389_reproductive_system_phenotype	1.08408088
58	MP0001905_abnormal_dopamine_level	1.08332234
59	MP0002735_abnormal_chemical_nociception	1.08270948
60	MP0001970_abnormal_pain_threshold	1.06638772
61	MP0002733_abnormal_thermal_nociception	1.04693710
62	MP0002557_abnormal_social/conspecific_i	1.01480807
63	MP0005367_renal/urinary_system_phenotyp	1.00946900
64	MP0000516_abnormal_urinary_system	1.00946900
65	MP0003283_abnormal_digestive_organ	0.98671507
66	MP0002095_abnormal_skin_pigmentation	0.98084316
67	MP0000015_abnormal_ear_pigmentation	0.96821558
68	MP0001764_abnormal_homeostasis	0.96433756
69	MP0005195_abnormal_posterior_eye	0.95498906
70	MP0002067_abnormal_sensory_capabilities	0.93983513
71	MP0002063_abnormal_learning/memory/cond	0.92405924
72	MP0002928_abnormal_bile_duct	0.90997557
73	MP0003937_abnormal_limbs/digits/tail_de	0.88410916
74	MP0003718_maternal_effect	0.87971405
75	MP0010386_abnormal_urinary_bladder	0.87667257
76	MP0008058_abnormal_DNA_repair	0.86160754
77	MP0005167_abnormal_blood-brain_barrier	0.85732707
78	MP0003119_abnormal_digestive_system	0.85412677
79	MP0002277_abnormal_respiratory_mucosa	0.85042544
80	MP0005332_abnormal_amino_acid	0.84369290
81	MP0003137_abnormal_impulse_conducting	0.83814480
82	MP0005410_abnormal_fertilization	0.82409724
83	MP0003635_abnormal_synaptic_transmissio	0.82406726
84	MP0001324_abnormal_eye_pigmentation	0.80991294
85	MP0005391_vision/eye_phenotype	0.80599835
86	MP0001919_abnormal_reproductive_system	0.79573327
87	MP0002693_abnormal_pancreas_physiology	0.79362101
88	MP0002734_abnormal_mechanical_nocicepti	0.79255089
89	MP0002254_reproductive_system_inflammat	0.77789349
90	MP0004742_abnormal_vestibular_system	0.77693726
91	MP0001929_abnormal_gametogenesis	0.77465538
92	MP0002752_abnormal_somatic_nervous	0.76920689
93	MP0000647_abnormal_sebaceous_gland	0.76422088
94	MP0003698_abnormal_male_reproductive	0.75877909
95	MP0003252_abnormal_bile_duct	0.75408107
96	MP0005671_abnormal_response_to	0.75255283
97	MP0002909_abnormal_adrenal_gland	0.75018129
98	MP0002229_neurodegeneration	0.74602369
99	MP0006036_abnormal_mitochondrial_physio	0.74455617
100	MP0001963_abnormal_hearing_physiology	0.74161313

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Pancreatic cysts (HP:0001737)	4.64946399
2	Pancreatic fibrosis (HP:0100732)	4.28722900
3	Molar tooth sign on MRI (HP:0002419)	4.00411399
4	Abnormality of midbrain morphology (HP:0002418)	4.00411399
5	True hermaphroditism (HP:0010459)	3.90501243
6	Congenital stationary night blindness (HP:0007642)	3.87164564
7	Nephronophthisis (HP:0000090)	3.84020227
8	Abnormality of the renal cortex (HP:0011035)	3.79801954
9	Abnormality of the renal medulla (HP:0100957)	3.35244311
10	Pendular nystagmus (HP:0012043)	3.24116856
11	3-Methylglutaconic aciduria (HP:0003535)	3.08298584
12	Hyperventilation (HP:0002883)	3.04795710
13	Abolished electroretinogram (ERG) (HP:0000550)	3.04069597
14	Type II lissencephaly (HP:0007260)	2.99915261
15	Progressive inability to walk (HP:0002505)	2.98543868
16	Renal cortical cysts (HP:0000803)	2.91718526
17	Tubular atrophy (HP:0000092)	2.88814050
18	Medial flaring of the eyebrow (HP:0010747)	2.84328049
19	Attenuation of retinal blood vessels (HP:0007843)	2.83845557
20	Cystic liver disease (HP:0006706)	2.79356820
21	Chronic hepatic failure (HP:0100626)	2.75477836
22	Inability to walk (HP:0002540)	2.66229732
23	Abnormal biliary tract physiology (HP:0012439)	2.65543867
24	Bile duct proliferation (HP:0001408)	2.65543867
25	Abnormality of alanine metabolism (HP:0010916)	2.55800626
26	Hyperalaninemia (HP:0003348)	2.55800626
27	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.55800626
28	Increased corneal curvature (HP:0100692)	2.54081263
29	Keratoconus (HP:0000563)	2.54081263
30	Abnormal rod and cone electroretinograms (HP:0008323)	2.46063341
31	Acute necrotizing encephalopathy (HP:0006965)	2.45965941
32	Abnormal drinking behavior (HP:0030082)	2.43700508
33	Polydipsia (HP:0001959)	2.43700508
34	Lissencephaly (HP:0001339)	2.43353187
35	Acute encephalopathy (HP:0006846)	2.41938332
36	Aplasia/Hypoplasia of the tongue (HP:0010295)	2.38245562
37	Sclerocornea (HP:0000647)	2.29198982
38	Gait imbalance (HP:0002141)	2.27366775
39	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.25662737
40	Progressive macrocephaly (HP:0004481)	2.23132562
41	Congenital primary aphakia (HP:0007707)	2.22819644
42	Increased CSF lactate (HP:0002490)	2.22641774
43	Mitochondrial inheritance (HP:0001427)	2.21477502
44	Decreased central vision (HP:0007663)	2.21453358
45	Congenital, generalized hypertrichosis (HP:0004540)	2.16795217
46	Large for gestational age (HP:0001520)	2.16631609
47	Chorioretinal atrophy (HP:0000533)	2.16619678
48	Cerebellar dysplasia (HP:0007033)	2.14715692
49	Furrowed tongue (HP:0000221)	2.13878147
50	Colon cancer (HP:0003003)	2.12528747
51	Methylmalonic acidemia (HP:0002912)	2.10724722
52	Postaxial foot polydactyly (HP:0001830)	2.09909505
53	Anencephaly (HP:0002323)	2.09704899
54	Hemiparesis (HP:0001269)	2.09555467
55	Nephrogenic diabetes insipidus (HP:0009806)	2.09125740
56	Polyuria (HP:0000103)	2.08659358
57	Male pseudohermaphroditism (HP:0000037)	2.05616051
58	Methylmalonic aciduria (HP:0012120)	2.03957695
59	Congenital hepatic fibrosis (HP:0002612)	2.03069181
60	Gaze-evoked nystagmus (HP:0000640)	1.99727139
61	Severe muscular hypotonia (HP:0006829)	1.99277530
62	Abnormal mitochondria in muscle tissue (HP:0008316)	1.96142730
63	Optic disc pallor (HP:0000543)	1.94715346
64	Abnormality of the pons (HP:0007361)	1.93906262
65	Hypoplasia of the fovea (HP:0007750)	1.93872986
66	Aplasia/Hypoplasia of the fovea (HP:0008060)	1.93872986
67	Decreased electroretinogram (ERG) amplitude (HP:0000654)	1.93827979
68	Short tibia (HP:0005736)	1.93223812
69	Absent/shortened dynein arms (HP:0200106)	1.90690389
70	Dynein arm defect of respiratory motile cilia (HP:0012255)	1.90690389
71	Aplasia/Hypoplasia of the uvula (HP:0010293)	1.90432656
72	Absent rod-and cone-mediated responses on ERG (HP:0007688)	1.90366056
73	Aplasia/Hypoplasia of the optic nerve (HP:0008058)	1.88737221
74	Intestinal atresia (HP:0011100)	1.87978692
75	Genital tract atresia (HP:0001827)	1.87702976
76	Broad-based gait (HP:0002136)	1.86809810
77	Hepatic necrosis (HP:0002605)	1.85799873
78	Postaxial hand polydactyly (HP:0001162)	1.85133083
79	Abnormality of macular pigmentation (HP:0008002)	1.84147802
80	Hypoplasia of the pons (HP:0012110)	1.83667275
81	Hypoalbuminemia (HP:0003073)	1.82765722
82	Abnormal albumin level (HP:0012116)	1.82765722
83	Abnormality of the labia minora (HP:0012880)	1.82692477
84	Hepatocellular necrosis (HP:0001404)	1.82168907
85	Hypothermia (HP:0002045)	1.81717337
86	Preaxial hand polydactyly (HP:0001177)	1.79691921
87	Hyperglycinemia (HP:0002154)	1.79144531
88	Vaginal atresia (HP:0000148)	1.78163785
89	Hyperglycinuria (HP:0003108)	1.77929152
90	Bony spicule pigmentary retinopathy (HP:0007737)	1.77157616
91	Optic nerve hypoplasia (HP:0000609)	1.75206896
92	Febrile seizures (HP:0002373)	1.74270888
93	Pachygyria (HP:0001302)	1.73273738
94	Aplasia/Hypoplasia of the spleen (HP:0010451)	1.73060644
95	Stomach cancer (HP:0012126)	1.73053755
96	Abnormality of the fovea (HP:0000493)	1.70037139
97	Decreased circulating renin level (HP:0003351)	1.68555171
98	Dandy-Walker malformation (HP:0001305)	1.67946526
99	Disproportionate short-trunk short stature (HP:0003521)	1.67457116
100	Lipid accumulation in hepatocytes (HP:0006561)	1.66057500

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	5.31940449
2	NUAK1	3.13721361
3	ADRBK2	3.07631434
4	MAP4K2	2.63249037
5	WNK3	2.51188991
6	GRK1	2.39418624
7	ZAK	2.38364624
8	BMPR1B	2.30929057
9	INSRR	2.19264372
10	ACVR1B	2.15257685
11	TXK	2.09278824
12	TAOK3	1.95811315
13	CASK	1.90152357
14	PINK1	1.85351923
15	MAPK13	1.66802853
16	BCR	1.64401322
17	TLK1	1.63172502
18	EIF2AK3	1.60889775
19	VRK2	1.57624623
20	TRIM28	1.56095505
21	DAPK2	1.52499220
22	MAP3K4	1.50570893
23	TNIK	1.48317299
24	WNK4	1.46970908
25	OXSR1	1.42159949
26	PLK2	1.35689499
27	PNCK	1.22172962
28	MST4	1.20760555
29	ERBB3	1.19424409
30	STK39	1.16779061
31	DYRK2	1.11732682
32	VRK1	1.09696985
33	PAK3	1.09263098
34	MARK1	1.08096186
35	MKNK2	1.07488352
36	LATS1	1.07155956
37	STK38L	1.03961415
38	IRAK1	1.03242546
39	CSNK1G2	1.01047821
40	PHKG1	1.00911210
41	PHKG2	1.00911210
42	CSNK1G3	1.00482192
43	LIMK1	1.00344447
44	CAMKK2	0.99796925
45	PRKCE	0.99440379
46	NTRK3	0.95658329
47	CSNK1A1L	0.92251167
48	ADRBK1	0.90137664
49	CSNK1G1	0.89516017
50	MAP2K7	0.86461098
51	PRKCG	0.85308847
52	BCKDK	0.83565910
53	TIE1	0.79954375
54	TAF1	0.79331499
55	BRSK2	0.78185552
56	FGFR2	0.76723594
57	NME1	0.74703758
58	CDK8	0.72953176
59	PLK3	0.72032272
60	TGFBR1	0.70641906
61	STK3	0.68980961
62	PTK2B	0.68428332
63	MAP2K6	0.66213943
64	EPHA4	0.65374677
65	NLK	0.64995325
66	MAPKAPK3	0.61484988
67	DYRK3	0.60369289
68	PLK4	0.57437174
69	PKN1	0.57044447
70	EIF2AK1	0.56419510
71	IKBKB	0.54774365
72	RPS6KA5	0.54472116
73	CAMK2A	0.54034226
74	MUSK	0.52291162
75	STK11	0.52221141
76	PRKCI	0.50745414
77	MKNK1	0.49298784
78	FER	0.47500472
79	PRKCQ	0.46571871
80	WEE1	0.45419922
81	MAPKAPK5	0.43708777
82	EPHA3	0.43675687
83	MAP2K2	0.43460461
84	TEC	0.42608097
85	NTRK2	0.41939868
86	CSNK1A1	0.40816687
87	MAP2K1	0.40280927
88	GRK7	0.39289640
89	PRKACA	0.39010297
90	CSNK1D	0.37806119
91	RPS6KA4	0.36642376
92	PIK3CA	0.36409206
93	GRK5	0.35837820
94	FLT3	0.32251174
95	PRKG1	0.31832450
96	PRKCZ	0.31801849
97	PRKAA1	0.31331932
98	EIF2AK2	0.30926118
99	MARK3	0.30221295
100	CAMK1	0.29797277

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.88760916
2	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	2.73128664
3	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.65646775
4	Phototransduction_Homo sapiens_hsa04744	2.65315709
5	Butanoate metabolism_Homo sapiens_hsa00650	2.38210257
6	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	2.35654253
7	Oxidative phosphorylation_Homo sapiens_hsa00190	2.34689072
8	Protein export_Homo sapiens_hsa03060	2.15456006
9	Linoleic acid metabolism_Homo sapiens_hsa00591	2.08339722
10	Nitrogen metabolism_Homo sapiens_hsa00910	2.06422438
11	Selenocompound metabolism_Homo sapiens_hsa00450	2.06230341
12	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.93477388
13	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.92429696
14	Tryptophan metabolism_Homo sapiens_hsa00380	1.88328484
15	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.86366075
16	Parkinsons disease_Homo sapiens_hsa05012	1.86019987
17	Nicotine addiction_Homo sapiens_hsa05033	1.85462490
18	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.82317526
19	Caffeine metabolism_Homo sapiens_hsa00232	1.81734875
20	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.79813720
21	Basal transcription factors_Homo sapiens_hsa03022	1.78927268
22	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.78612736
23	Propanoate metabolism_Homo sapiens_hsa00640	1.78081075
24	Ether lipid metabolism_Homo sapiens_hsa00565	1.73374962
25	Fanconi anemia pathway_Homo sapiens_hsa03460	1.72740670
26	RNA polymerase_Homo sapiens_hsa03020	1.68790884
27	Homologous recombination_Homo sapiens_hsa03440	1.66853482
28	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.58237684
29	RNA degradation_Homo sapiens_hsa03018	1.57733726
30	Regulation of autophagy_Homo sapiens_hsa04140	1.44068453
31	Sulfur metabolism_Homo sapiens_hsa00920	1.42630186
32	One carbon pool by folate_Homo sapiens_hsa00670	1.38553322
33	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.30346239
34	Alzheimers disease_Homo sapiens_hsa05010	1.20571437
35	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.20153981
36	Peroxisome_Homo sapiens_hsa04146	1.20087981
37	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.18573187
38	Huntingtons disease_Homo sapiens_hsa05016	1.15611371
39	ABC transporters_Homo sapiens_hsa02010	1.15506737
40	Proteasome_Homo sapiens_hsa03050	1.14485504
41	Morphine addiction_Homo sapiens_hsa05032	1.11114965
42	Olfactory transduction_Homo sapiens_hsa04740	1.09570267
43	Taste transduction_Homo sapiens_hsa04742	1.08522877
44	Chemical carcinogenesis_Homo sapiens_hsa05204	1.08077677
45	Retinol metabolism_Homo sapiens_hsa00830	1.05146903
46	Non-homologous end-joining_Homo sapiens_hsa03450	0.98703399
47	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.97991974
48	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.94288403
49	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.93466582
50	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.91860186
51	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.90751403
52	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.90384052
53	GABAergic synapse_Homo sapiens_hsa04727	0.89031060
54	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.87428710
55	Insulin secretion_Homo sapiens_hsa04911	0.86629455
56	Cardiac muscle contraction_Homo sapiens_hsa04260	0.85982384
57	beta-Alanine metabolism_Homo sapiens_hsa00410	0.83527072
58	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.78916916
59	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.77179526
60	Purine metabolism_Homo sapiens_hsa00230	0.76120531
61	Metabolic pathways_Homo sapiens_hsa01100	0.71800843
62	Circadian entrainment_Homo sapiens_hsa04713	0.70856569
63	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.70811819
64	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.70714729
65	Collecting duct acid secretion_Homo sapiens_hsa04966	0.70320290
66	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.68999076
67	Serotonergic synapse_Homo sapiens_hsa04726	0.65923528
68	Glutamatergic synapse_Homo sapiens_hsa04724	0.65911025
69	Circadian rhythm_Homo sapiens_hsa04710	0.65822462
70	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.65682681
71	Glycerolipid metabolism_Homo sapiens_hsa00561	0.65165992
72	Steroid biosynthesis_Homo sapiens_hsa00100	0.62310872
73	Fat digestion and absorption_Homo sapiens_hsa04975	0.60931438
74	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.59865729
75	Nucleotide excision repair_Homo sapiens_hsa03420	0.58498353
76	Fatty acid elongation_Homo sapiens_hsa00062	0.55385887
77	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.54915288
78	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.53603538
79	Primary immunodeficiency_Homo sapiens_hsa05340	0.52717479
80	Cyanoamino acid metabolism_Homo sapiens_hsa00460	0.51892175
81	Salivary secretion_Homo sapiens_hsa04970	0.51039087
82	Pyrimidine metabolism_Homo sapiens_hsa00240	0.50968150
83	Histidine metabolism_Homo sapiens_hsa00340	0.49914674
84	Fatty acid metabolism_Homo sapiens_hsa01212	0.47090874
85	Fatty acid degradation_Homo sapiens_hsa00071	0.46937032
86	Sphingolipid metabolism_Homo sapiens_hsa00600	0.46479526
87	Type I diabetes mellitus_Homo sapiens_hsa04940	0.46255100
88	Mineral absorption_Homo sapiens_hsa04978	0.44190988
89	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.43174029
90	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.42778283
91	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.42525893
92	Calcium signaling pathway_Homo sapiens_hsa04020	0.42059896
93	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.40193189
94	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.38824711
95	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.37957278
96	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.36667578
97	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	0.35830369
98	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.32868412
99	Mismatch repair_Homo sapiens_hsa03430	0.32714318
100	Dopaminergic synapse_Homo sapiens_hsa04728	0.31197453

EIF3EP2

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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