ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	tachykinin receptor signaling pathway (GO:0007217)	6.05034023
2	indolalkylamine metabolic process (GO:0006586)	5.85371402
3	gonadal mesoderm development (GO:0007506)	5.37126148
4	indolalkylamine catabolic process (GO:0046218)	5.35618559
5	tryptophan catabolic process (GO:0006569)	5.35618559
6	indole-containing compound catabolic process (GO:0042436)	5.35618559
7	cilium or flagellum-dependent cell motility (GO:0001539)	5.23866959
8	regulation of cytokine production involved in inflammatory response (GO:1900015)	5.07973575
9	kynurenine metabolic process (GO:0070189)	4.71714903
10	cellular ketone body metabolic process (GO:0046950)	4.67883650
11	regulation of female gonad development (GO:2000194)	4.67076761
12	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	4.66893398
13	retinal cone cell development (GO:0046549)	4.53755106
14	photoreceptor cell maintenance (GO:0045494)	4.37993728
15	negative regulation of calcium ion transport into cytosol (GO:0010523)	4.36879722
16	tryptophan metabolic process (GO:0006568)	4.28119177
17	detection of light stimulus involved in sensory perception (GO:0050962)	4.26779295
18	detection of light stimulus involved in visual perception (GO:0050908)	4.26779295
19	positive regulation of uterine smooth muscle contraction (GO:0070474)	4.21633846
20	opioid receptor signaling pathway (GO:0038003)	4.09760400
21	regulation of G0 to G1 transition (GO:0070316)	4.08671367
22	ketone body metabolic process (GO:1902224)	4.03843026
23	indole-containing compound metabolic process (GO:0042430)	4.00583341
24	negative regulation of cytosolic calcium ion concentration (GO:0051481)	4.00548858
25	regulation of memory T cell differentiation (GO:0043380)	3.94897602
26	adenosine metabolic process (GO:0046085)	3.86792183
27	DNA integration (GO:0015074)	3.78806128
28	phosphatidylinositol acyl-chain remodeling (GO:0036149)	3.78583581
29	L-fucose catabolic process (GO:0042355)	3.77928833
30	fucose catabolic process (GO:0019317)	3.77928833
31	L-fucose metabolic process (GO:0042354)	3.77928833
32	reflex (GO:0060004)	3.64958053
33	regulation of hippo signaling (GO:0035330)	3.63854699
34	axoneme assembly (GO:0035082)	3.54674680
35	seminiferous tubule development (GO:0072520)	3.52670891
36	amine catabolic process (GO:0009310)	3.48498416
37	cellular biogenic amine catabolic process (GO:0042402)	3.48498416
38	positive regulation of vasculogenesis (GO:2001214)	3.48018951
39	benzene-containing compound metabolic process (GO:0042537)	3.44739331
40	protein K11-linked deubiquitination (GO:0035871)	3.41773702
41	signal peptide processing (GO:0006465)	3.37537024
42	flavonoid metabolic process (GO:0009812)	3.36096629
43	organic cation transport (GO:0015695)	3.35860460
44	protein K48-linked deubiquitination (GO:0071108)	3.30428057
45	positive regulation of cAMP-mediated signaling (GO:0043950)	3.29694538
46	platelet dense granule organization (GO:0060155)	3.29520229
47	multicellular organism reproduction (GO:0032504)	3.26781693
48	positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)	3.25067114
49	sperm motility (GO:0030317)	3.23773527
50	serotonin receptor signaling pathway (GO:0007210)	3.19865070
51	auditory receptor cell stereocilium organization (GO:0060088)	3.18972368
52	respiratory chain complex IV assembly (GO:0008535)	3.16187064
53	DNA damage response, detection of DNA damage (GO:0042769)	3.14221170
54	lymphangiogenesis (GO:0001946)	3.12792338
55	thyroid hormone metabolic process (GO:0042403)	3.08345905
56	regulation of gonadotropin secretion (GO:0032276)	3.06572991
57	regulation of uterine smooth muscle contraction (GO:0070472)	3.05681759
58	detection of mechanical stimulus involved in sensory perception (GO:0050974)	3.04327884
59	response to misfolded protein (GO:0051788)	3.03028138
60	phosphatidylglycerol acyl-chain remodeling (GO:0036148)	3.02704789
61	intestinal cholesterol absorption (GO:0030299)	3.01115634
62	membrane depolarization during action potential (GO:0086010)	2.99079474
63	phosphatidylserine acyl-chain remodeling (GO:0036150)	2.95701684
64	phosphorelay signal transduction system (GO:0000160)	2.94202965
65	positive regulation of developmental pigmentation (GO:0048087)	2.92550686
66	dopamine transport (GO:0015872)	2.91871570
67	histone H3-K9 methylation (GO:0051567)	2.86421419
68	lipid translocation (GO:0034204)	2.85469519
69	phospholipid translocation (GO:0045332)	2.85469519
70	aromatic amino acid family catabolic process (GO:0009074)	2.83572624
71	G-protein coupled glutamate receptor signaling pathway (GO:0007216)	2.83237264
72	sphingoid metabolic process (GO:0046519)	2.83213983
73	negative regulation by host of viral transcription (GO:0043922)	2.83088932
74	regulation of phospholipase A2 activity (GO:0032429)	2.82543589
75	positive regulation of T cell differentiation in thymus (GO:0033089)	2.79918170
76	neural tube formation (GO:0001841)	2.77448627
77	regulation of collateral sprouting (GO:0048670)	2.76991872
78	imidazole-containing compound metabolic process (GO:0052803)	2.76916568
79	aromatic amino acid family metabolic process (GO:0009072)	2.74902964
80	piRNA metabolic process (GO:0034587)	2.74610954
81	sulfation (GO:0051923)	2.71905686
82	photoreceptor cell development (GO:0042461)	2.70967319
83	gamma-aminobutyric acid transport (GO:0015812)	2.70328247
84	regulation of male gonad development (GO:2000018)	2.67981663
85	cytochrome complex assembly (GO:0017004)	2.66713171
86	rhodopsin mediated signaling pathway (GO:0016056)	2.63853450
87	digestion (GO:0007586)	2.63591676
88	regulation of protein targeting to membrane (GO:0090313)	2.59640032
89	righting reflex (GO:0060013)	2.58722914
90	regulation of vasculogenesis (GO:2001212)	2.57554744
91	protein polyglutamylation (GO:0018095)	2.57324173
92	single fertilization (GO:0007338)	2.56049061
93	behavioral response to ethanol (GO:0048149)	2.54595889
94	regulation of posttranscriptional gene silencing (GO:0060147)	2.53428651
95	regulation of gene silencing by miRNA (GO:0060964)	2.53428651
96	regulation of gene silencing by RNA (GO:0060966)	2.53428651
97	glycine transport (GO:0015816)	2.53243451
98	sex determination (GO:0007530)	2.53062158
99	sulfate transmembrane transport (GO:1902358)	2.52325241
100	detection of mechanical stimulus (GO:0050982)	2.52313062

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	4.14099424
2	VDR_22108803_ChIP-Seq_LS180_Human	3.67015194
3	GBX2_23144817_ChIP-Seq_PC3_Human	3.49694850
4	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	3.23034652
5	IGF1R_20145208_ChIP-Seq_DFB_Human	3.12399549
6	DROSHA_22980978_ChIP-Seq_HELA_Human	2.76913011
7	TAF15_26573619_Chip-Seq_HEK293_Human	2.68957783
8	EZH2_22144423_ChIP-Seq_EOC_Human	2.62208957
9	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.57397398
10	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	2.26232145
11	AR_21572438_ChIP-Seq_LNCaP_Human	2.14955991
12	ZNF274_21170338_ChIP-Seq_K562_Hela	1.99385352
13	IRF8_22096565_ChIP-ChIP_GC-B_Human	1.97159722
14	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.92964363
15	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.92533740
16	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.92417482
17	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.91834117
18	BCAT_22108803_ChIP-Seq_LS180_Human	1.85526077
19	IRF1_21803131_ChIP-Seq_MONOCYTES_Human	1.83421742
20	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.75561600
21	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.71355058
22	SMAD_19615063_ChIP-ChIP_OVARY_Human	1.70038106
23	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	1.68980538
24	STAT3_23295773_ChIP-Seq_U87_Human	1.62234692
25	SMAD4_21799915_ChIP-Seq_A2780_Human	1.57277117
26	EGR1_19032775_ChIP-ChIP_M12_Human	1.52677702
27	SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	1.52188401
28	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	1.51689888
29	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.49430153
30	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.46692418
31	P300_19829295_ChIP-Seq_ESCs_Human	1.45591836
32	ER_23166858_ChIP-Seq_MCF-7_Human	1.43690363
33	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.42804483
34	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.41714550
35	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.38488751
36	VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human	1.38390085
37	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.37751692
38	CBP_20019798_ChIP-Seq_JUKART_Human	1.37751692
39	TCF4_23295773_ChIP-Seq_U87_Human	1.35760960
40	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.33622239
41	NCOR_22424771_ChIP-Seq_293T_Human	1.33442189
42	STAT6_20620947_ChIP-Seq_CD4_POS_T_Human	1.32844372
43	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.30928787
44	OCT1_27270436_Chip-Seq_PROSTATE_Human	1.30561163
45	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.30206920
46	TP53_22573176_ChIP-Seq_HFKS_Human	1.29870699
47	CEBPB_22108803_ChIP-Seq_LS180_Human	1.28902564
48	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.28860212
49	ERG_20517297_ChIP-Seq_VCAP_Human	1.26940574
50	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	1.25422876
51	CDX2_22108803_ChIP-Seq_LS180_Human	1.23766061
52	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.23753827
53	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.23006744
54	JARID2_20064375_ChIP-Seq_MESCs_Mouse	1.21903341
55	TP53_16413492_ChIP-PET_HCT116_Human	1.21214226
56	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.20928561
57	VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human	1.20889032
58	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.19176408
59	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.19164074
60	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.19164074
61	NANOG_20526341_ChIP-Seq_ESCs_Human	1.16941496
62	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.16502936
63	MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human	1.15597651
64	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.13958889
65	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.13903169
66	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.12990894
67	AR_25329375_ChIP-Seq_VCAP_Human	1.11523367
68	SMAD3_21741376_ChIP-Seq_HESCs_Human	1.11473834
69	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.11308312
70	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.11232431
71	TCF4_22108803_ChIP-Seq_LS180_Human	1.10262079
72	OCT4_20526341_ChIP-Seq_ESCs_Human	1.10144001
73	MYC_19829295_ChIP-Seq_ESCs_Human	1.09281568
74	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.08582350
75	REST_21632747_ChIP-Seq_MESCs_Mouse	1.07567242
76	RUNX2_22187159_ChIP-Seq_PCA_Human	1.06102492
77	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.05940898
78	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.05864119
79	STAT1_17558387_ChIP-Seq_HELA_Human	1.05772843
80	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.05293435
81	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.04793097
82	NFYA_21822215_ChIP-Seq_K562_Human	1.03900256
83	EWS_26573619_Chip-Seq_HEK293_Human	1.03862615
84	EBNA1_20929547_Chip-Seq_RAJI-cells_Human	1.02318856
85	IRF8_21731497_ChIP-ChIP_J774_Mouse	1.01842076
86	FOXA1_21572438_ChIP-Seq_LNCaP_Human	0.99770860
87	AR_20517297_ChIP-Seq_VCAP_Human	0.99125517
88	SOX2_19829295_ChIP-Seq_ESCs_Human	0.98399861
89	NANOG_19829295_ChIP-Seq_ESCs_Human	0.98399861
90	TOP2B_26459242_ChIP-Seq_MCF-7_Human	0.98190009
91	FUS_26573619_Chip-Seq_HEK293_Human	0.98155258
92	BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human	0.97999462
93	GATA2_21666600_ChIP-Seq_HMVEC_Human	0.97861466
94	JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	0.97712198
95	FOXH1_21741376_ChIP-Seq_EPCs_Human	0.97570133
96	TBL1_22424771_ChIP-Seq_293T_Human	0.97264020
97	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	0.96871738
98	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	0.96620949
99	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	0.96531432
100	CJUN_26792858_Chip-Seq_BT549_Human	0.96094392

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003183_abnormal_peptide_metabolism	5.53423349
2	MP0003136_yellow_coat_color	3.84697838
3	MP0003879_abnormal_hair_cell	3.83536858
4	MP0005645_abnormal_hypothalamus_physiol	3.56437947
5	MP0002138_abnormal_hepatobiliary_system	3.50224495
6	MP0002102_abnormal_ear_morphology	3.30679167
7	MP0008004_abnormal_stomach_pH	3.04561649
8	MP0005670_abnormal_white_adipose	2.95412841
9	MP0001485_abnormal_pinna_reflex	2.73312004
10	MP0003195_calcinosis	2.56555805
11	MP0002736_abnormal_nociception_after	2.55858533
12	MP0001968_abnormal_touch/_nociception	2.52949131
13	MP0005551_abnormal_eye_electrophysiolog	2.39784928
14	MP0003878_abnormal_ear_physiology	2.33096191
15	MP0005377_hearing/vestibular/ear_phenot	2.33096191
16	MP0002735_abnormal_chemical_nociception	2.27308671
17	MP0000465_gastrointestinal_hemorrhage	2.18206527
18	MP0001664_abnormal_digestion	2.09173853
19	MP0000372_irregular_coat_pigmentation	2.05942797
20	MP0005646_abnormal_pituitary_gland	1.96626337
21	MP0005410_abnormal_fertilization	1.95993343
22	MP0005647_abnormal_sex_gland	1.91622595
23	MP0003045_fibrosis	1.90330468
24	MP0003646_muscle_fatigue	1.87291156
25	MP0000569_abnormal_digit_pigmentation	1.79206999
26	MP0009764_decreased_sensitivity_to	1.73313439
27	MP0002733_abnormal_thermal_nociception	1.70408998
28	MP0009046_muscle_twitch	1.65788071
29	MP0003806_abnormal_nucleotide_metabolis	1.65585939
30	MP0006276_abnormal_autonomic_nervous	1.64024410
31	MP0003950_abnormal_plasma_membrane	1.58963918
32	MP0005310_abnormal_salivary_gland	1.58205056
33	MP0001666_abnormal_nutrient_absorption	1.54154487
34	MP0001501_abnormal_sleep_pattern	1.45251191
35	MP0001970_abnormal_pain_threshold	1.43684034
36	MP0008872_abnormal_physiological_respon	1.42991179
37	MP0004043_abnormal_pH_regulation	1.42579961
38	MP0005451_abnormal_body_composition	1.40953524
39	MP0002876_abnormal_thyroid_physiology	1.36869280
40	MP0002928_abnormal_bile_duct	1.36709392
41	MP0000230_abnormal_systemic_arterial	1.27038180
42	MP0003959_abnormal_lean_body	1.25647157
43	MP0001764_abnormal_homeostasis	1.25382004
44	MP0000631_abnormal_neuroendocrine_gland	1.24797252
45	MP0000427_abnormal_hair_cycle	1.18787463
46	MP0005367_renal/urinary_system_phenotyp	1.18558883
47	MP0000516_abnormal_urinary_system	1.18558883
48	MP0000026_abnormal_inner_ear	1.11706513
49	MP0004130_abnormal_muscle_cell	1.07271257
50	MP0002572_abnormal_emotion/affect_behav	1.07058720
51	MP0003252_abnormal_bile_duct	1.05176387
52	MP0009745_abnormal_behavioral_response	1.04630227
53	MP0005171_absent_coat_pigmentation	1.01235082
54	MP0000470_abnormal_stomach_morphology	0.98724918
55	MP0004147_increased_porphyrin_level	0.98674878
56	MP0005360_urolithiasis	0.97727596
57	MP0003698_abnormal_male_reproductive	0.94509065
58	MP0001986_abnormal_taste_sensitivity	0.91192329
59	MP0001905_abnormal_dopamine_level	0.90550292
60	MP0010386_abnormal_urinary_bladder	0.90224623
61	MP0001963_abnormal_hearing_physiology	0.88385720
62	MP0002229_neurodegeneration	0.86378023
63	MP0008874_decreased_physiological_sensi	0.84488385
64	MP0003635_abnormal_synaptic_transmissio	0.83801789
65	MP0001348_abnormal_lacrimal_gland	0.83494679
66	MP0003638_abnormal_response/metabolism_	0.82345923
67	MP0002638_abnormal_pupillary_reflex	0.81162404
68	MP0002163_abnormal_gland_morphology	0.79071215
69	MP0001545_abnormal_hematopoietic_system	0.76629610
70	MP0005397_hematopoietic_system_phenotyp	0.76629610
71	MP0009697_abnormal_copulation	0.75240006
72	MP0005448_abnormal_energy_balance	0.74981803
73	MP0001270_distended_abdomen	0.74722525
74	MP0009278_abnormal_bone_marrow	0.74279822
75	MP0005266_abnormal_metabolism	0.73998281
76	MP0002168_other_aberrant_phenotype	0.73701501
77	MP0005253_abnormal_eye_physiology	0.73062809
78	MP0001929_abnormal_gametogenesis	0.72707905
79	MP0006138_congestive_heart_failure	0.72444489
80	MP0006082_CNS_inflammation	0.70026527
81	MP0001765_abnormal_ion_homeostasis	0.67774453
82	MP0001984_abnormal_olfaction	0.67644906
83	MP0009643_abnormal_urine_homeostasis	0.66900746
84	MP0004215_abnormal_myocardial_fiber	0.65691340
85	MP0009250_abnormal_appendicular_skeleto	0.65242278
86	MP0006054_spinal_hemorrhage	0.64942138
87	MP0002148_abnormal_hypersensitivity_rea	0.64844920
88	MP0008995_early_reproductive_senescence	0.64146702
89	MP0001440_abnormal_grooming_behavior	0.63294457
90	MP0005075_abnormal_melanosome_morpholog	0.62827294
91	MP0001486_abnormal_startle_reflex	0.62513881
92	MP0010155_abnormal_intestine_physiology	0.62379339
93	MP0002752_abnormal_somatic_nervous	0.61799026
94	MP0005503_abnormal_tendon_morphology	0.60602591
95	MP0002067_abnormal_sensory_capabilities	0.60184377
96	MP0002272_abnormal_nervous_system	0.60091293
97	MP0005376_homeostasis/metabolism_phenot	0.59892768
98	MP0010368_abnormal_lymphatic_system	0.56109905
99	MP0004381_abnormal_hair_follicle	0.55680212
100	MP0009384_cardiac_valve_regurgitation	0.55529739

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Attenuation of retinal blood vessels (HP:0007843)	5.01005425
2	Congenital sensorineural hearing impairment (HP:0008527)	4.99431627
3	Cerebellar dysplasia (HP:0007033)	4.90132329
4	Bony spicule pigmentary retinopathy (HP:0007737)	4.19943772
5	Pancreatic cysts (HP:0001737)	4.17780380
6	Type II lissencephaly (HP:0007260)	4.05046165
7	Abolished electroretinogram (ERG) (HP:0000550)	3.85513276
8	Increased corneal curvature (HP:0100692)	3.76362153
9	Keratoconus (HP:0000563)	3.76362153
10	Reduced antithrombin III activity (HP:0001976)	3.66021078
11	Bilateral sensorineural hearing impairment (HP:0008619)	3.56500502
12	Congenital stationary night blindness (HP:0007642)	3.52000608
13	Retinal dysplasia (HP:0007973)	3.50519075
14	Cystic liver disease (HP:0006706)	3.28187137
15	Absent rod-and cone-mediated responses on ERG (HP:0007688)	3.22206285
16	Central scotoma (HP:0000603)	3.09803277
17	Abnormality of the renal cortex (HP:0011035)	3.09671282
18	Decreased circulating renin level (HP:0003351)	2.95686680
19	Pancreatic fibrosis (HP:0100732)	2.84290793
20	True hermaphroditism (HP:0010459)	2.82858424
21	Amelogenesis imperfecta (HP:0000705)	2.80569111
22	Ileus (HP:0002595)	2.77329111
23	Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)	2.74929865
24	Renal cortical cysts (HP:0000803)	2.74155803
25	Constricted visual fields (HP:0001133)	2.74003386
26	Abnormality of macular pigmentation (HP:0008002)	2.62351539
27	Abnormal protein glycosylation (HP:0012346)	2.59273855
28	Abnormal glycosylation (HP:0012345)	2.59273855
29	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	2.59273855
30	Abnormal protein N-linked glycosylation (HP:0012347)	2.59273855
31	Aplasia/Hypoplasia of the tibia (HP:0005772)	2.57777503
32	Hypoplasia of the pons (HP:0012110)	2.56492178
33	Protruding tongue (HP:0010808)	2.53440263
34	Palpebral edema (HP:0100540)	2.52292227
35	Increased neuronal autofluorescent lipopigment (HP:0002074)	2.48275808
36	Progressive microcephaly (HP:0000253)	2.47646966
37	Chronic hepatic failure (HP:0100626)	2.45854707
38	Difficulty walking (HP:0002355)	2.43277639
39	Thoracolumbar scoliosis (HP:0002944)	2.41673716
40	Severe visual impairment (HP:0001141)	2.40447976
41	Molar tooth sign on MRI (HP:0002419)	2.37698340
42	Abnormality of midbrain morphology (HP:0002418)	2.37698340
43	Abnormality of the intrinsic pathway (HP:0010989)	2.35483684
44	Preaxial foot polydactyly (HP:0001841)	2.33975714
45	Abnormal rod and cone electroretinograms (HP:0008323)	2.31994279
46	Lower limb hyperreflexia (HP:0002395)	2.30309175
47	Respiratory difficulties (HP:0002880)	2.29539593
48	Tinnitus (HP:0000360)	2.26578744
49	Small hand (HP:0200055)	2.26342787
50	Hyperglycinuria (HP:0003108)	2.25725130
51	Facial diplegia (HP:0001349)	2.25406729
52	Hydroxyprolinuria (HP:0003080)	2.24275990
53	Abnormality of proline metabolism (HP:0010907)	2.24275990
54	Polydipsia (HP:0001959)	2.20600439
55	Abnormal drinking behavior (HP:0030082)	2.20600439
56	Abnormal ciliary motility (HP:0012262)	2.13682835
57	Abnormality of dentin (HP:0010299)	2.12718386
58	Abnormality of the pons (HP:0007361)	2.10562488
59	Occipital encephalocele (HP:0002085)	2.10361106
60	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.08687107
61	Abnormality of cochlea (HP:0000375)	2.08309607
62	Clumsiness (HP:0002312)	2.08197612
63	Gaze-evoked nystagmus (HP:0000640)	2.03630441
64	Hematochezia (HP:0002573)	2.03402133
65	Conical tooth (HP:0000698)	2.03223167
66	Prolonged QT interval (HP:0001657)	2.02928537
67	Sclerocornea (HP:0000647)	2.01257676
68	Soft skin (HP:0000977)	2.01180846
69	Polyuria (HP:0000103)	1.99491458
70	Severe muscular hypotonia (HP:0006829)	1.99282184
71	Opisthotonus (HP:0002179)	1.96937042
72	Ketoacidosis (HP:0001993)	1.94893947
73	Scotoma (HP:0000575)	1.93969208
74	Thoracic kyphosis (HP:0002942)	1.93529666
75	Facial shape deformation (HP:0011334)	1.92923063
76	Potter facies (HP:0002009)	1.92923063
77	Portal hypertension (HP:0001409)	1.91210742
78	Enlarged kidneys (HP:0000105)	1.91005104
79	Microretrognathia (HP:0000308)	1.88781973
80	Spontaneous hematomas (HP:0007420)	1.88574599
81	Genetic anticipation (HP:0003743)	1.87900974
82	Bulbous nose (HP:0000414)	1.87417028
83	Decreased central vision (HP:0007663)	1.87119721
84	Congenital hepatic fibrosis (HP:0002612)	1.85813642
85	Abnormality of dental color (HP:0011073)	1.85549306
86	Concave nail (HP:0001598)	1.85195759
87	Increased cerebral lipofuscin (HP:0011813)	1.85060210
88	Poikiloderma (HP:0001029)	1.83810472
89	Optic nerve hypoplasia (HP:0000609)	1.83237741
90	Premature skin wrinkling (HP:0100678)	1.82942225
91	Abnormality of the lumbar spine (HP:0100712)	1.82364472
92	Retinitis pigmentosa (HP:0000510)	1.80728298
93	Abnormality of alanine metabolism (HP:0010916)	1.80281367
94	Hyperalaninemia (HP:0003348)	1.80281367
95	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	1.80281367
96	Elevated erythrocyte sedimentation rate (HP:0003565)	1.79013696
97	Abnormality of the columella (HP:0009929)	1.78202649
98	CNS demyelination (HP:0007305)	1.76641157
99	Tubular atrophy (HP:0000092)	1.76024111
100	Progressive cerebellar ataxia (HP:0002073)	1.75750462

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	INSRR	7.58280112
2	LATS1	6.67964175
3	FRK	5.28954275
4	ADRBK2	3.34592426
5	NUAK1	2.94782965
6	PIM2	2.83006489
7	ZAK	2.78394527
8	KDR	2.31923951
9	NME1	1.89681142
10	WNK3	1.83284111
11	AKT3	1.81364983
12	STK38L	1.74319095
13	STK3	1.73878670
14	MAPKAPK3	1.73087211
15	KIT	1.52123820
16	PRKD3	1.49956742
17	EIF2AK3	1.40409999
18	ADRBK1	1.36761340
19	IRAK1	1.16996636
20	MAPK13	1.12214649
21	TXK	1.11273736
22	TAOK3	1.09663316
23	GRK1	1.08286493
24	BLK	1.06043591
25	CHEK2	1.04133806
26	PINK1	0.99009587
27	ITK	0.94715732
28	TLK1	0.94428219
29	WNK4	0.94179532
30	DDR2	0.94089831
31	SIK2	0.91584984
32	PTK2B	0.91116428
33	OXSR1	0.87059070
34	STK38	0.86685486
35	TESK2	0.86604146
36	WNK1	0.83881468
37	BMPR1B	0.81290348
38	RIPK4	0.81139535
39	PIM1	0.76695165
40	STK39	0.75216061
41	CCNB1	0.74609429
42	LMTK2	0.73216362
43	MAP3K5	0.71081106
44	DAPK3	0.70171318
45	MYLK	0.67156223
46	PAK2	0.63277798
47	LIMK1	0.63014567
48	TEC	0.61055856
49	PIK3CG	0.57321822
50	GRK7	0.56743549
51	PRKG2	0.54478212
52	DAPK1	0.54143467
53	MELK	0.53308654
54	SYK	0.52713465
55	MAP3K4	0.48460838
56	PKN1	0.46775741
57	PRKCG	0.45978545
58	PRKCE	0.45943475
59	CAMK2A	0.43476272
60	TESK1	0.43019849
61	RPS6KA5	0.42604247
62	BMX	0.41765166
63	IRAK2	0.41052890
64	CAMK2G	0.38943598
65	CSNK1A1L	0.38918668
66	LYN	0.38769650
67	MUSK	0.37262432
68	CSNK1G3	0.37067515
69	TIE1	0.36395270
70	PLK4	0.35727011
71	MAP2K7	0.35674574
72	CSNK1D	0.34650758
73	MAP2K2	0.34312392
74	NTRK3	0.34260386
75	MAPKAPK5	0.34150885
76	NEK2	0.32239219
77	VRK1	0.31569973
78	MAPK7	0.31321220
79	SIK3	0.29967076
80	PRKCB	0.29623277
81	PRKCA	0.29476064
82	PRKCH	0.29366437
83	VRK2	0.28385670
84	DAPK2	0.28098161
85	PRKACA	0.26637879
86	CSNK1G1	0.26512814
87	CSNK1A1	0.26503725
88	TGFBR1	0.26342647
89	BTK	0.26258212
90	JAK3	0.26027840
91	GRK5	0.25871586
92	ACVR1B	0.25819833
93	DYRK1B	0.25583144
94	PIK3CA	0.23845834
95	MARK3	0.23582388
96	CSK	0.22179080
97	PHKG2	0.21860758
98	PHKG1	0.21860758
99	TNK2	0.21449665
100	PRKG1	0.21278674

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	ABC transporters_Homo sapiens_hsa02010	3.14772542
2	Phototransduction_Homo sapiens_hsa04744	2.86060137
3	Butanoate metabolism_Homo sapiens_hsa00650	2.84677128
4	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.78910437
5	Sulfur metabolism_Homo sapiens_hsa00920	2.61928751
6	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	2.57184180
7	Primary immunodeficiency_Homo sapiens_hsa05340	2.55621109
8	Tryptophan metabolism_Homo sapiens_hsa00380	2.54016388
9	Linoleic acid metabolism_Homo sapiens_hsa00591	2.53996549
10	Pancreatic secretion_Homo sapiens_hsa04972	2.36561289
11	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	2.26073019
12	Selenocompound metabolism_Homo sapiens_hsa00450	2.22222534
13	Fat digestion and absorption_Homo sapiens_hsa04975	2.21879762
14	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.16580092
15	Histidine metabolism_Homo sapiens_hsa00340	2.15736346
16	Protein digestion and absorption_Homo sapiens_hsa04974	2.06221066
17	Olfactory transduction_Homo sapiens_hsa04740	1.99849014
18	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.99107032
19	Nicotine addiction_Homo sapiens_hsa05033	1.87699497
20	Glycerolipid metabolism_Homo sapiens_hsa00561	1.72224764
21	Morphine addiction_Homo sapiens_hsa05032	1.62020902
22	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.60567297
23	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.58439134
24	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.52851297
25	Ether lipid metabolism_Homo sapiens_hsa00565	1.46387619
26	Taste transduction_Homo sapiens_hsa04742	1.45486101
27	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	1.43751097
28	Homologous recombination_Homo sapiens_hsa03440	1.43434050
29	Serotonergic synapse_Homo sapiens_hsa04726	1.41707012
30	Calcium signaling pathway_Homo sapiens_hsa04020	1.41072952
31	beta-Alanine metabolism_Homo sapiens_hsa00410	1.30762468
32	Retinol metabolism_Homo sapiens_hsa00830	1.28138511
33	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.26114268
34	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	1.25737815
35	Salivary secretion_Homo sapiens_hsa04970	1.21195433
36	Sulfur relay system_Homo sapiens_hsa04122	1.20122408
37	Vascular smooth muscle contraction_Homo sapiens_hsa04270	1.19333410
38	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.11882335
39	Nitrogen metabolism_Homo sapiens_hsa00910	1.11863870
40	Starch and sucrose metabolism_Homo sapiens_hsa00500	1.08674104
41	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.06444597
42	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.05787510
43	Ovarian steroidogenesis_Homo sapiens_hsa04913	1.02451131
44	Circadian entrainment_Homo sapiens_hsa04713	1.02353946
45	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	0.96905974
46	RNA polymerase_Homo sapiens_hsa03020	0.94750355
47	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.93221016
48	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.92382627
49	ECM-receptor interaction_Homo sapiens_hsa04512	0.85900889
50	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.84306308
51	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.83975663
52	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.81411373
53	Purine metabolism_Homo sapiens_hsa00230	0.80296406
54	Sphingolipid metabolism_Homo sapiens_hsa00600	0.80125781
55	Chemical carcinogenesis_Homo sapiens_hsa05204	0.79884060
56	GABAergic synapse_Homo sapiens_hsa04727	0.79656135
57	Cyanoamino acid metabolism_Homo sapiens_hsa00460	0.73292207
58	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.65852497
59	Glutamatergic synapse_Homo sapiens_hsa04724	0.64690534
60	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.63302985
61	Lysine degradation_Homo sapiens_hsa00310	0.62708762
62	One carbon pool by folate_Homo sapiens_hsa00670	0.62277690
63	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.62208436
64	Glycosaminoglycan degradation_Homo sapiens_hsa00531	0.60692593
65	Regulation of autophagy_Homo sapiens_hsa04140	0.55184502
66	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.55104460
67	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.54319945
68	Gastric acid secretion_Homo sapiens_hsa04971	0.53052501
69	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.52667960
70	Carbohydrate digestion and absorption_Homo sapiens_hsa04973	0.48781862
71	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.48038558
72	Hematopoietic cell lineage_Homo sapiens_hsa04640	0.47963623
73	Natural killer cell mediated cytotoxicity_Homo sapiens_hsa04650	0.47122339
74	Platelet activation_Homo sapiens_hsa04611	0.45168032
75	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.45160495
76	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.44635740
77	cAMP signaling pathway_Homo sapiens_hsa04024	0.43575961
78	Pyrimidine metabolism_Homo sapiens_hsa00240	0.43439505
79	Melanoma_Homo sapiens_hsa05218	0.43173950
80	Phenylalanine metabolism_Homo sapiens_hsa00360	0.42443589
81	Ribosome_Homo sapiens_hsa03010	0.42353807
82	Huntingtons disease_Homo sapiens_hsa05016	0.41421795
83	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.39862968
84	Fanconi anemia pathway_Homo sapiens_hsa03460	0.39599284
85	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.39528618
86	Metabolic pathways_Homo sapiens_hsa01100	0.39462834
87	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.36613706
88	Renin-angiotensin system_Homo sapiens_hsa04614	0.35840107
89	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.35156767
90	African trypanosomiasis_Homo sapiens_hsa05143	0.32524390
91	Bladder cancer_Homo sapiens_hsa05219	0.31193788
92	Propanoate metabolism_Homo sapiens_hsa00640	0.31189828
93	p53 signaling pathway_Homo sapiens_hsa04115	0.30751487
94	Ras signaling pathway_Homo sapiens_hsa04014	0.30256550
95	Bile secretion_Homo sapiens_hsa04976	0.28597754
96	Basal transcription factors_Homo sapiens_hsa03022	0.27247696
97	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532	0.26165455
98	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.26080373
99	Cholinergic synapse_Homo sapiens_hsa04725	0.25582527
100	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.24609639

DUX4L26

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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