ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	indole-containing compound catabolic process (GO:0042436)	5.35841447
2	indolalkylamine catabolic process (GO:0046218)	5.35841447
3	tryptophan catabolic process (GO:0006569)	5.35841447
4	tryptophan metabolic process (GO:0006568)	4.89270953
5	indolalkylamine metabolic process (GO:0006586)	4.81604915
6	protein K11-linked deubiquitination (GO:0035871)	4.65996334
7	fucose catabolic process (GO:0019317)	4.63287820
8	L-fucose metabolic process (GO:0042354)	4.63287820
9	L-fucose catabolic process (GO:0042355)	4.63287820
10	kynurenine metabolic process (GO:0070189)	4.50649914
11	response to pheromone (GO:0019236)	4.39720719
12	neural tube formation (GO:0001841)	4.20189277
13	DNA deamination (GO:0045006)	4.15791645
14	regulation of memory T cell differentiation (GO:0043380)	3.92420921
15	piRNA metabolic process (GO:0034587)	3.90474803
16	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.74855962
17	cellular biogenic amine catabolic process (GO:0042402)	3.61582052
18	amine catabolic process (GO:0009310)	3.61582052
19	detection of light stimulus involved in visual perception (GO:0050908)	3.55103664
20	detection of light stimulus involved in sensory perception (GO:0050962)	3.55103664
21	signal peptide processing (GO:0006465)	3.51184423
22	negative regulation of multicellular organism growth (GO:0040015)	3.47850002
23	cellular ketone body metabolic process (GO:0046950)	3.47779872
24	sex differentiation (GO:0007548)	3.46353836
25	serotonin receptor signaling pathway (GO:0007210)	3.44182713
26	negative regulation of mast cell activation (GO:0033004)	3.43858093
27	indole-containing compound metabolic process (GO:0042430)	3.40839479
28	protein localization to cilium (GO:0061512)	3.28350279
29	reflex (GO:0060004)	3.22650824
30	ketone body metabolic process (GO:1902224)	3.21352887
31	retinal cone cell development (GO:0046549)	3.19166415
32	single strand break repair (GO:0000012)	3.18109606
33	DNA methylation involved in gamete generation (GO:0043046)	3.15044466
34	regulation of cilium movement (GO:0003352)	3.14252625
35	aromatic amino acid family catabolic process (GO:0009074)	3.12647740
36	behavioral response to nicotine (GO:0035095)	3.10730633
37	water-soluble vitamin biosynthetic process (GO:0042364)	3.08577938
38	adaptation of signaling pathway (GO:0023058)	3.08281574
39	photoreceptor cell maintenance (GO:0045494)	3.04991644
40	platelet dense granule organization (GO:0060155)	3.03069725
41	thyroid hormone metabolic process (GO:0042403)	3.00273129
42	sulfation (GO:0051923)	3.00085042
43	regulation of establishment of cell polarity (GO:2000114)	2.99077709
44	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	2.95678611
45	negative regulation of telomere maintenance (GO:0032205)	2.93837750
46	regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091	2.90788995
47	establishment of protein localization to Golgi (GO:0072600)	2.90111654
48	regulation of action potential (GO:0098900)	2.89422447
49	benzene-containing compound metabolic process (GO:0042537)	2.85594086
50	glycerophospholipid catabolic process (GO:0046475)	2.84343993
51	tachykinin receptor signaling pathway (GO:0007217)	2.84092268
52	regulation of mesoderm development (GO:2000380)	2.79845014
53	negative regulation of calcium ion transport into cytosol (GO:0010523)	2.79313720
54	behavioral response to ethanol (GO:0048149)	2.77618487
55	sterol catabolic process (GO:0016127)	2.76715761
56	cholesterol catabolic process (GO:0006707)	2.76715761
57	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	2.75193935
58	positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)	2.72935558
59	central nervous system neuron axonogenesis (GO:0021955)	2.72881972
60	somite rostral/caudal axis specification (GO:0032525)	2.72719229
61	negative regulation of cytosolic calcium ion concentration (GO:0051481)	2.72046322
62	disruption of cells of other organism (GO:0044364)	2.71630636
63	killing of cells of other organism (GO:0031640)	2.71630636
64	regulation of sarcomere organization (GO:0060297)	2.71184385
65	cilium or flagellum-dependent cell motility (GO:0001539)	2.68324026
66	DNA demethylation (GO:0080111)	2.67715153
67	righting reflex (GO:0060013)	2.67571459
68	intracellular pH reduction (GO:0051452)	2.66853931
69	regulation of hexokinase activity (GO:1903299)	2.66187014
70	regulation of glucokinase activity (GO:0033131)	2.66187014
71	secondary heart field specification (GO:0003139)	2.65065456
72	heart field specification (GO:0003128)	2.65065456
73	aromatic amino acid family metabolic process (GO:0009072)	2.63409895
74	cAMP catabolic process (GO:0006198)	2.62725427
75	neuronal action potential propagation (GO:0019227)	2.61423761
76	regulation of establishment or maintenance of cell polarity (GO:0032878)	2.61060746
77	startle response (GO:0001964)	2.60706527
78	cilium morphogenesis (GO:0060271)	2.58694424
79	central nervous system projection neuron axonogenesis (GO:0021952)	2.57741539
80	positive regulation of vasculogenesis (GO:2001214)	2.57504182
81	embryonic epithelial tube formation (GO:0001838)	2.54608128
82	axoneme assembly (GO:0035082)	2.53438415
83	gamma-aminobutyric acid transport (GO:0015812)	2.51350474
84	dopamine transport (GO:0015872)	2.50900967
85	neuronal action potential (GO:0019228)	2.50381765
86	regulation of granulocyte macrophage colony-stimulating factor production (GO:0032645)	2.49525918
87	cytidine deamination (GO:0009972)	2.48810802
88	cytidine metabolic process (GO:0046087)	2.48810802
89	cytidine catabolic process (GO:0006216)	2.48810802
90	NAD biosynthetic process (GO:0009435)	2.48205350
91	cyclic nucleotide catabolic process (GO:0009214)	2.46639823
92	photoreceptor cell development (GO:0042461)	2.45291716
93	C4-dicarboxylate transport (GO:0015740)	2.42318776
94	positive regulation of phosphoprotein phosphatase activity (GO:0032516)	2.42080915
95	protein polyglutamylation (GO:0018095)	2.40744038
96	seminiferous tubule development (GO:0072520)	2.39848867
97	preassembly of GPI anchor in ER membrane (GO:0016254)	2.39616637
98	amino acid salvage (GO:0043102)	2.38283102
99	L-methionine salvage (GO:0071267)	2.38283102
100	L-methionine biosynthetic process (GO:0071265)	2.38283102

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	GBX2_23144817_ChIP-Seq_PC3_Human	3.63417148
2	ZNF274_21170338_ChIP-Seq_K562_Hela	3.34279026
3	IGF1R_20145208_ChIP-Seq_DFB_Human	2.95451010
4	VDR_22108803_ChIP-Seq_LS180_Human	2.88480679
5	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.70448232
6	TAF15_26573619_Chip-Seq_HEK293_Human	2.66763771
7	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.58883520
8	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.52373656
9	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.43476435
10	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.38062368
11	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.31283939
12	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	2.14102668
13	P300_19829295_ChIP-Seq_ESCs_Human	2.11948901
14	FUS_26573619_Chip-Seq_HEK293_Human	2.10565721
15	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.07413891
16	ER_23166858_ChIP-Seq_MCF-7_Human	2.07176466
17	EZH2_22144423_ChIP-Seq_EOC_Human	2.07143856
18	SALL1_21062744_ChIP-ChIP_HESCs_Human	2.02693777
19	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.98120497
20	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.92241062
21	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.86331787
22	EWS_26573619_Chip-Seq_HEK293_Human	1.84099078
23	BCAT_22108803_ChIP-Seq_LS180_Human	1.74345184
24	SMAD4_21799915_ChIP-Seq_A2780_Human	1.73592774
25	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.72376122
26	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.71799585
27	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.71308677
28	CBP_20019798_ChIP-Seq_JUKART_Human	1.71308677
29	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.66936450
30	STAT3_23295773_ChIP-Seq_U87_Human	1.65219732
31	AR_25329375_ChIP-Seq_VCAP_Human	1.64351214
32	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.64038349
33	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.58127504
34	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.52489654
35	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.51864835
36	TCF4_23295773_ChIP-Seq_U87_Human	1.49584424
37	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.49259947
38	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.46622342
39	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.45357561
40	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.45062672
41	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.44353740
42	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.44096508
43	TP53_22573176_ChIP-Seq_HFKS_Human	1.43142885
44	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.41254718
45	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.40524318
46	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.38976159
47	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.38215105
48	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	1.38199232
49	TCF4_22108803_ChIP-Seq_LS180_Human	1.37439220
50	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.35930913
51	IRF1_19129219_ChIP-ChIP_H3396_Human	1.34448581
52	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.34061708
53	RUNX2_22187159_ChIP-Seq_PCA_Human	1.34049287
54	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.32720547
55	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.32609482
56	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.30777068
57	SOX2_19829295_ChIP-Seq_ESCs_Human	1.30494953
58	NANOG_19829295_ChIP-Seq_ESCs_Human	1.30494953
59	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.29368944
60	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.28113367
61	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.27761716
62	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.26379404
63	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.25723149
64	CDX2_22108803_ChIP-Seq_LS180_Human	1.25255283
65	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.24351942
66	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.23905952
67	REST_21632747_ChIP-Seq_MESCs_Mouse	1.23131482
68	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.22567856
69	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.22567856
70	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.21215578
71	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.20033928
72	P53_22387025_ChIP-Seq_ESCs_Mouse	1.19867468
73	NCOR_22424771_ChIP-Seq_293T_Human	1.16340553
74	OCT4_21477851_ChIP-Seq_ESCs_Mouse	1.16196473
75	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.15989148
76	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.15223791
77	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.14823327
78	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.14823327
79	STAT3_18555785_Chip-Seq_ESCs_Mouse	1.14114149
80	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.12199694
81	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.10881891
82	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.09751498
83	E2F1_18555785_Chip-Seq_ESCs_Mouse	1.08640820
84	RNF2_27304074_Chip-Seq_NSC_Mouse	1.08618150
85	TAL1_26923725_Chip-Seq_HPCs_Mouse	1.08161579
86	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.07384363
87	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	1.07188496
88	AR_21572438_ChIP-Seq_LNCaP_Human	1.06649908
89	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.06220938
90	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	1.05659275
91	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.04768385
92	SUZ12_18555785_Chip-Seq_ESCs_Mouse	1.04517506
93	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.04111475
94	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	1.04091768
95	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	1.02448456
96	CMYC_18555785_Chip-Seq_ESCs_Mouse	1.00311686
97	P300_18555785_Chip-Seq_ESCs_Mouse	0.98913490
98	KDM2B_26808549_Chip-Seq_REH_Human	0.97419133
99	MYC_18940864_ChIP-ChIP_HL60_Human	0.97100200
100	TP53_18474530_ChIP-ChIP_U2OS_Human	0.96617514

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003195_calcinosis	2.86922626
2	MP0002837_dystrophic_cardiac_calcinosis	2.86535549
3	MP0000569_abnormal_digit_pigmentation	2.82702112
4	MP0002234_abnormal_pharynx_morphology	2.70648247
5	MP0005551_abnormal_eye_electrophysiolog	2.52944403
6	MP0002736_abnormal_nociception_after	2.51688558
7	MP0001968_abnormal_touch/_nociception	2.41648672
8	MP0005646_abnormal_pituitary_gland	2.41577016
9	MP0009046_muscle_twitch	2.37600574
10	MP0001984_abnormal_olfaction	2.31648390
11	MP0002102_abnormal_ear_morphology	2.16341700
12	MP0003880_abnormal_central_pattern	2.11502290
13	MP0005253_abnormal_eye_physiology	2.02055143
14	MP0006072_abnormal_retinal_apoptosis	1.98053566
15	MP0002735_abnormal_chemical_nociception	1.95960604
16	MP0009745_abnormal_behavioral_response	1.95646566
17	MP0002876_abnormal_thyroid_physiology	1.92886493
18	MP0001501_abnormal_sleep_pattern	1.91028548
19	MP0001986_abnormal_taste_sensitivity	1.87578025
20	MP0008875_abnormal_xenobiotic_pharmacok	1.86990057
21	MP0003252_abnormal_bile_duct	1.86059827
22	MP0008877_abnormal_DNA_methylation	1.83793593
23	MP0006276_abnormal_autonomic_nervous	1.74153590
24	MP0002138_abnormal_hepatobiliary_system	1.70357203
25	MP0000372_irregular_coat_pigmentation	1.68054254
26	MP0003787_abnormal_imprinting	1.66108942
27	MP0004043_abnormal_pH_regulation	1.65605434
28	MP0003646_muscle_fatigue	1.65347945
29	MP0004924_abnormal_behavior	1.61704204
30	MP0005386_behavior/neurological_phenoty	1.61704204
31	MP0002272_abnormal_nervous_system	1.58221364
32	MP0008872_abnormal_physiological_respon	1.54673344
33	MP0001486_abnormal_startle_reflex	1.52568902
34	MP0000631_abnormal_neuroendocrine_gland	1.50432622
35	MP0003011_delayed_dark_adaptation	1.49326885
36	MP0005645_abnormal_hypothalamus_physiol	1.45816327
37	MP0004885_abnormal_endolymph	1.39587247
38	MP0001529_abnormal_vocalization	1.31618892
39	MP0005367_renal/urinary_system_phenotyp	1.25513368
40	MP0000516_abnormal_urinary_system	1.25513368
41	MP0002064_seizures	1.22325964
42	MP0000427_abnormal_hair_cycle	1.21879154
43	MP0002638_abnormal_pupillary_reflex	1.21403964
44	MP0002572_abnormal_emotion/affect_behav	1.20600129
45	MP0004147_increased_porphyrin_level	1.18202599
46	MP0003183_abnormal_peptide_metabolism	1.18172092
47	MP0005084_abnormal_gallbladder_morpholo	1.16478212
48	MP0001970_abnormal_pain_threshold	1.16282482
49	MP0006054_spinal_hemorrhage	1.15537708
50	MP0010386_abnormal_urinary_bladder	1.14472362
51	MP0002733_abnormal_thermal_nociception	1.12732816
52	MP0000230_abnormal_systemic_arterial	1.11707857
53	MP0002928_abnormal_bile_duct	1.10460513
54	MP0004142_abnormal_muscle_tone	1.08512257
55	MP0005187_abnormal_penis_morphology	1.07906962
56	MP0008789_abnormal_olfactory_epithelium	1.07338617
57	MP0004133_heterotaxia	1.06697237
58	MP0001905_abnormal_dopamine_level	1.06329940
59	MP0005379_endocrine/exocrine_gland_phen	1.03139482
60	MP0003635_abnormal_synaptic_transmissio	1.00502541
61	MP0001764_abnormal_homeostasis	0.98963442
62	MP0005670_abnormal_white_adipose	0.98927026
63	MP0006292_abnormal_olfactory_placode	0.97562736
64	MP0005389_reproductive_system_phenotype	0.97337781
65	MP0002229_neurodegeneration	0.97058445
66	MP0005647_abnormal_sex_gland	0.96159778
67	MP0002163_abnormal_gland_morphology	0.95735214
68	MP0002067_abnormal_sensory_capabilities	0.94505994
69	MP0001485_abnormal_pinna_reflex	0.94489062
70	MP0002693_abnormal_pancreas_physiology	0.94315209
71	MP0004215_abnormal_myocardial_fiber	0.94202261
72	MP0001919_abnormal_reproductive_system	0.93869725
73	MP0005410_abnormal_fertilization	0.93317225
74	MP0001873_stomach_inflammation	0.91506388
75	MP0002909_abnormal_adrenal_gland	0.91191994
76	MP0002557_abnormal_social/conspecific_i	0.90480501
77	MP0005195_abnormal_posterior_eye	0.90477625
78	MP0010329_abnormal_lipoprotein_level	0.89800428
79	MP0005075_abnormal_melanosome_morpholog	0.89555195
80	MP0002751_abnormal_autonomic_nervous	0.86083576
81	MP0005171_absent_coat_pigmentation	0.85574724
82	MP0008058_abnormal_DNA_repair	0.85451243
83	MP0005167_abnormal_blood-brain_barrier	0.85129490
84	MP0005085_abnormal_gallbladder_physiolo	0.85110676
85	MP0002938_white_spotting	0.84713364
86	MP0003137_abnormal_impulse_conducting	0.83883100
87	MP0002063_abnormal_learning/memory/cond	0.83708397
88	MP0005310_abnormal_salivary_gland	0.83584329
89	MP0008775_abnormal_heart_ventricle	0.83370323
90	MP0002752_abnormal_somatic_nervous	0.82589493
91	MP0002734_abnormal_mechanical_nocicepti	0.82447974
92	MP0004130_abnormal_muscle_cell	0.79553502
93	MP0001440_abnormal_grooming_behavior	0.78727599
94	MP0003698_abnormal_male_reproductive	0.77721183
95	MP0000383_abnormal_hair_follicle	0.74400032
96	MP0005499_abnormal_olfactory_system	0.73540509
97	MP0005394_taste/olfaction_phenotype	0.73540509
98	MP0003718_maternal_effect	0.73079539
99	MP0000639_abnormal_adrenal_gland	0.72875891
100	MP0001756_abnormal_urination	0.72617654

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Gaze-evoked nystagmus (HP:0000640)	4.05698527
2	Pancreatic cysts (HP:0001737)	4.00328867
3	Pancreatic fibrosis (HP:0100732)	3.81826219
4	True hermaphroditism (HP:0010459)	3.74102743
5	Congenital stationary night blindness (HP:0007642)	3.73752730
6	Hyperventilation (HP:0002883)	3.45249237
7	Genetic anticipation (HP:0003743)	3.35259138
8	Nephronophthisis (HP:0000090)	3.13831980
9	Abnormality of the renal cortex (HP:0011035)	3.12657055
10	Attenuation of retinal blood vessels (HP:0007843)	3.09845982
11	Abolished electroretinogram (ERG) (HP:0000550)	3.05758951
12	Aplasia/Hypoplasia of the tibia (HP:0005772)	3.05620394
13	Medial flaring of the eyebrow (HP:0010747)	3.05511809
14	Progressive cerebellar ataxia (HP:0002073)	3.04962825
15	Abnormality of midbrain morphology (HP:0002418)	3.03797485
16	Molar tooth sign on MRI (HP:0002419)	3.03797485
17	Abnormality of the renal medulla (HP:0100957)	2.77203451
18	Congenital sensorineural hearing impairment (HP:0008527)	2.73089295
19	Febrile seizures (HP:0002373)	2.71559746
20	Renal cortical cysts (HP:0000803)	2.70167824
21	Focal seizures (HP:0007359)	2.63480096
22	Absent speech (HP:0001344)	2.63133228
23	Broad-based gait (HP:0002136)	2.62632605
24	Autoimmune thrombocytopenia (HP:0001973)	2.56073622
25	Type II lissencephaly (HP:0007260)	2.54647411
26	Action tremor (HP:0002345)	2.54490073
27	Abnormality of macular pigmentation (HP:0008002)	2.46244955
28	Dialeptic seizures (HP:0011146)	2.44668977
29	Cystic liver disease (HP:0006706)	2.43720980
30	Hypothermia (HP:0002045)	2.41308978
31	Abnormal delayed hypersensitivity skin test (HP:0002963)	2.37522882
32	Pendular nystagmus (HP:0012043)	2.35867997
33	Focal motor seizures (HP:0011153)	2.33380164
34	Short tibia (HP:0005736)	2.31351490
35	Gait imbalance (HP:0002141)	2.30934478
36	Chronic hepatic failure (HP:0100626)	2.28438251
37	Congenital primary aphakia (HP:0007707)	2.23845343
38	Inability to walk (HP:0002540)	2.23187414
39	Abnormal drinking behavior (HP:0030082)	2.22156301
40	Polydipsia (HP:0001959)	2.22156301
41	Constricted visual fields (HP:0001133)	2.17410246
42	Autoimmune hemolytic anemia (HP:0001890)	2.12864299
43	Bony spicule pigmentary retinopathy (HP:0007737)	2.12476388
44	Epileptic encephalopathy (HP:0200134)	2.12414989
45	Progressive inability to walk (HP:0002505)	2.09998924
46	Nephrogenic diabetes insipidus (HP:0009806)	2.09442042
47	Anencephaly (HP:0002323)	2.09029836
48	Tubular atrophy (HP:0000092)	2.08372204
49	Hemiparesis (HP:0001269)	2.08360270
50	Male pseudohermaphroditism (HP:0000037)	2.05718832
51	Lissencephaly (HP:0001339)	2.05351459
52	Absence seizures (HP:0002121)	2.04275346
53	Anterior segment dysgenesis (HP:0007700)	2.03722118
54	Congenital, generalized hypertrichosis (HP:0004540)	2.03616906
55	Large for gestational age (HP:0001520)	2.03002688
56	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.00917364
57	Sclerocornea (HP:0000647)	1.99791283
58	Abnormal rod and cone electroretinograms (HP:0008323)	1.99778105
59	Absent/shortened dynein arms (HP:0200106)	1.99233572
60	Dynein arm defect of respiratory motile cilia (HP:0012255)	1.99233572
61	Retinitis pigmentosa (HP:0000510)	1.98934439
62	Cerebellar dysplasia (HP:0007033)	1.98858464
63	Aplasia/Hypoplasia of the tongue (HP:0010295)	1.98047609
64	Congenital hepatic fibrosis (HP:0002612)	1.97879949
65	Occipital encephalocele (HP:0002085)	1.96313614
66	Methylmalonic acidemia (HP:0002912)	1.95511382
67	Prostate neoplasm (HP:0100787)	1.93973038
68	Postaxial foot polydactyly (HP:0001830)	1.92562184
69	Increased corneal curvature (HP:0100692)	1.92136189
70	Keratoconus (HP:0000563)	1.92136189
71	Decreased circulating renin level (HP:0003351)	1.91361903
72	Furrowed tongue (HP:0000221)	1.88345835
73	Retinal dysplasia (HP:0007973)	1.86948887
74	Decreased central vision (HP:0007663)	1.86679406
75	Fair hair (HP:0002286)	1.85890486
76	Genital tract atresia (HP:0001827)	1.85002741
77	Hepatic necrosis (HP:0002605)	1.83094658
78	Hypochromic anemia (HP:0001931)	1.82160490
79	Small hand (HP:0200055)	1.81444842
80	Hypoplasia of the fovea (HP:0007750)	1.81292159
81	Aplasia/Hypoplasia of the fovea (HP:0008060)	1.81292159
82	Pachygyria (HP:0001302)	1.79990061
83	Severe visual impairment (HP:0001141)	1.79662203
84	Ketosis (HP:0001946)	1.79120053
85	Ketoacidosis (HP:0001993)	1.78967508
86	Oculomotor apraxia (HP:0000657)	1.77282971
87	Thyroid-stimulating hormone excess (HP:0002925)	1.77036806
88	Clumsiness (HP:0002312)	1.76459807
89	Polyuria (HP:0000103)	1.74258327
90	Abnormal respiratory epithelium morphology (HP:0012253)	1.74145274
91	Abnormal respiratory motile cilium morphology (HP:0005938)	1.74145274
92	Tubulointerstitial nephritis (HP:0001970)	1.73839442
93	Hypoproteinemia (HP:0003075)	1.73167812
94	Protruding tongue (HP:0010808)	1.72440576
95	Increased CSF lactate (HP:0002490)	1.71117368
96	Prominent supraorbital ridges (HP:0000336)	1.70209328
97	Vaginal atresia (HP:0000148)	1.70008963
98	Widely spaced teeth (HP:0000687)	1.69976189
99	Intestinal atresia (HP:0011100)	1.69766703
100	Chorioretinal atrophy (HP:0000533)	1.68884240

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	7.53463110
2	TLK1	3.78720277
3	BMPR1B	3.15444523
4	CDK19	2.75702810
5	OXSR1	2.72430528
6	WNK3	2.66840472
7	ACVR1B	2.64793292
8	ADRBK2	2.53627490
9	GRK1	2.39269973
10	PINK1	2.30877470
11	MAP4K2	2.15120213
12	TAOK3	1.95546498
13	PIK3CA	1.95337317
14	TRIM28	1.93514028
15	NUAK1	1.75846045
16	CASK	1.68485538
17	TXK	1.59101033
18	MARK1	1.57452017
19	FER	1.52455213
20	MAP3K4	1.50822202
21	ZAK	1.47176472
22	STK38L	1.42473711
23	MAPK13	1.41246292
24	MST4	1.31737667
25	INSRR	1.29686619
26	NTRK3	1.20772212
27	TNIK	1.16528848
28	NTRK2	1.13488245
29	TIE1	1.07131748
30	BCKDK	1.05278122
31	ADRBK1	1.04691417
32	STK39	1.03072379
33	CAMKK2	1.02991728
34	BCR	0.96732770
35	PAK3	0.95179796
36	EIF2AK3	0.94925644
37	PRKCG	0.93457277
38	TGFBR1	0.89598847
39	KIT	0.87693128
40	PRKCE	0.87427888
41	TNK2	0.86548206
42	PLK2	0.85548148
43	MAP2K7	0.83316034
44	DAPK2	0.82951918
45	PHKG1	0.76836228
46	PHKG2	0.76836228
47	CSNK1G2	0.76634543
48	AKT3	0.74108168
49	STK3	0.73708581
50	ERBB3	0.73524327
51	CSNK1G3	0.73087961
52	CSNK1G1	0.72658998
53	MAP2K6	0.72510977
54	MKNK2	0.71104608
55	CSNK1A1L	0.66216079
56	GRK7	0.64970802
57	PTK2B	0.63323371
58	LATS1	0.61915844
59	CAMK2A	0.60769497
60	MKNK1	0.59997428
61	EPHA4	0.59213743
62	TEC	0.57545497
63	DYRK2	0.55905450
64	FGFR2	0.53308802
65	PDK2	0.52033444
66	WNK4	0.48838280
67	FES	0.47229784
68	IRAK1	0.46909787
69	FLT3	0.46720342
70	PRKG1	0.46282415
71	LIMK1	0.45280840
72	PRKACA	0.43101031
73	PIK3CG	0.39481650
74	CDK3	0.38511806
75	PRKAA2	0.37974645
76	MAP2K4	0.36933493
77	BRSK2	0.36597842
78	PRKCQ	0.35880382
79	MAP3K7	0.35641258
80	BMPR2	0.35288910
81	IGF1R	0.34340385
82	IKBKB	0.33898376
83	GRK5	0.33624882
84	CSNK1A1	0.32918198
85	CSNK1D	0.32802102
86	MAPKAPK3	0.32681730
87	OBSCN	0.32662229
88	PRKCA	0.31324814
89	ABL1	0.30949535
90	STK11	0.30114418
91	MINK1	0.29741282
92	STK38	0.29277691
93	PRKAA1	0.24822276
94	LMTK2	0.23946931
95	DYRK1A	0.23503456
96	CAMK1	0.20717850
97	PLK3	0.19472327
98	EGFR	0.19466351
99	ITK	0.19411841
100	LCK	0.18828778

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Caffeine metabolism_Homo sapiens_hsa00232	3.01240401
2	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	2.73612075
3	Butanoate metabolism_Homo sapiens_hsa00650	2.67763048
4	Phototransduction_Homo sapiens_hsa04744	2.67131309
5	Primary bile acid biosynthesis_Homo sapiens_hsa00120	2.59613719
6	Linoleic acid metabolism_Homo sapiens_hsa00591	2.52898112
7	Tryptophan metabolism_Homo sapiens_hsa00380	2.47035056
8	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.34852087
9	Maturity onset diabetes of the young_Homo sapiens_hsa04950	2.27912693
10	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.21082000
11	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	2.14218550
12	Propanoate metabolism_Homo sapiens_hsa00640	2.13206100
13	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	2.11300920
14	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	2.07888096
15	Nicotine addiction_Homo sapiens_hsa05033	1.99309495
16	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.97639674
17	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.82053794
18	Ether lipid metabolism_Homo sapiens_hsa00565	1.80041792
19	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.74913250
20	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.69202112
21	Olfactory transduction_Homo sapiens_hsa04740	1.63636355
22	Protein export_Homo sapiens_hsa03060	1.61429909
23	ABC transporters_Homo sapiens_hsa02010	1.60918413
24	Taste transduction_Homo sapiens_hsa04742	1.44681439
25	Nitrogen metabolism_Homo sapiens_hsa00910	1.43788900
26	Retinol metabolism_Homo sapiens_hsa00830	1.39823354
27	Selenocompound metabolism_Homo sapiens_hsa00450	1.34781324
28	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.32597495
29	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.32117205
30	Fanconi anemia pathway_Homo sapiens_hsa03460	1.27258898
31	Morphine addiction_Homo sapiens_hsa05032	1.26900175
32	Peroxisome_Homo sapiens_hsa04146	1.24030803
33	Type I diabetes mellitus_Homo sapiens_hsa04940	1.15483970
34	RNA polymerase_Homo sapiens_hsa03020	1.12234964
35	Chemical carcinogenesis_Homo sapiens_hsa05204	1.05895559
36	GABAergic synapse_Homo sapiens_hsa04727	1.05702727
37	Serotonergic synapse_Homo sapiens_hsa04726	1.05662916
38	Basal transcription factors_Homo sapiens_hsa03022	1.04279869
39	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	1.04103220
40	Salivary secretion_Homo sapiens_hsa04970	0.98758298
41	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.97666390
42	African trypanosomiasis_Homo sapiens_hsa05143	0.96227816
43	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.95889203
44	beta-Alanine metabolism_Homo sapiens_hsa00410	0.95068102
45	Homologous recombination_Homo sapiens_hsa03440	0.93841825
46	Oxidative phosphorylation_Homo sapiens_hsa00190	0.93062799
47	Glycerolipid metabolism_Homo sapiens_hsa00561	0.92367628
48	Sphingolipid metabolism_Homo sapiens_hsa00600	0.88988060
49	Glutamatergic synapse_Homo sapiens_hsa04724	0.87882959
50	Histidine metabolism_Homo sapiens_hsa00340	0.84716143
51	Insulin secretion_Homo sapiens_hsa04911	0.84535918
52	Graft-versus-host disease_Homo sapiens_hsa05332	0.84514498
53	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.83835012
54	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.83499464
55	Fat digestion and absorption_Homo sapiens_hsa04975	0.82270021
56	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.82122773
57	Calcium signaling pathway_Homo sapiens_hsa04020	0.78791074
58	Circadian entrainment_Homo sapiens_hsa04713	0.78315125
59	Non-homologous end-joining_Homo sapiens_hsa03450	0.76105263
60	Autoimmune thyroid disease_Homo sapiens_hsa05320	0.75577518
61	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.75221798
62	Allograft rejection_Homo sapiens_hsa05330	0.74404888
63	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.71571993
64	Collecting duct acid secretion_Homo sapiens_hsa04966	0.70902050
65	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.68487123
66	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.67691339
67	Circadian rhythm_Homo sapiens_hsa04710	0.65990992
68	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.65273198
69	Regulation of autophagy_Homo sapiens_hsa04140	0.65202808
70	Purine metabolism_Homo sapiens_hsa00230	0.65144624
71	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.61943413
72	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.60873517
73	Fatty acid metabolism_Homo sapiens_hsa01212	0.60652976
74	Fatty acid degradation_Homo sapiens_hsa00071	0.58093215
75	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.57624824
76	Metabolic pathways_Homo sapiens_hsa01100	0.57613617
77	Parkinsons disease_Homo sapiens_hsa05012	0.57150405
78	cAMP signaling pathway_Homo sapiens_hsa04024	0.56426516
79	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.56400841
80	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.55714206
81	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.55597463
82	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.53568282
83	Fatty acid elongation_Homo sapiens_hsa00062	0.53187465
84	Renin secretion_Homo sapiens_hsa04924	0.53030930
85	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.52304577
86	RNA degradation_Homo sapiens_hsa03018	0.51345110
87	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.50311881
88	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.45933402
89	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.45401659
90	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.45104626
91	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.44827000
92	Rheumatoid arthritis_Homo sapiens_hsa05323	0.44667654
93	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.43074844
94	Asthma_Homo sapiens_hsa05310	0.42424593
95	Dopaminergic synapse_Homo sapiens_hsa04728	0.38802036
96	Long-term depression_Homo sapiens_hsa04730	0.36544514
97	Gastric acid secretion_Homo sapiens_hsa04971	0.33545774
98	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.32914898
99	NOD-like receptor signaling pathway_Homo sapiens_hsa04621	0.32326658
100	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.32073145

EPS15P1

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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