ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	tachykinin receptor signaling pathway (GO:0007217)	7.28843996
2	positive regulation of uterine smooth muscle contraction (GO:0070474)	6.60922143
3	response to pheromone (GO:0019236)	5.81278830
4	intestinal cholesterol absorption (GO:0030299)	5.63535471
5	rhodopsin mediated signaling pathway (GO:0016056)	5.62500072
6	cell morphogenesis involved in neuron differentiation (GO:0048667)	5.16679883
7	regulation of uterine smooth muscle contraction (GO:0070472)	5.06124358
8	post-embryonic morphogenesis (GO:0009886)	4.68652755
9	regulation of rhodopsin mediated signaling pathway (GO:0022400)	4.61608817
10	behavioral response to nicotine (GO:0035095)	4.46706868
11	protein-chromophore linkage (GO:0018298)	4.42212954
12	multicellular organism reproduction (GO:0032504)	4.26259098
13	regulation of gene silencing by RNA (GO:0060966)	4.20856898
14	regulation of posttranscriptional gene silencing (GO:0060147)	4.20856898
15	regulation of gene silencing by miRNA (GO:0060964)	4.20856898
16	indolalkylamine metabolic process (GO:0006586)	4.11926202
17	tryptophan catabolic process (GO:0006569)	3.95088610
18	indole-containing compound catabolic process (GO:0042436)	3.95088610
19	indolalkylamine catabolic process (GO:0046218)	3.95088610
20	detection of light stimulus involved in sensory perception (GO:0050962)	3.85132997
21	detection of light stimulus involved in visual perception (GO:0050908)	3.85132997
22	negative regulation of antigen receptor-mediated signaling pathway (GO:0050858)	3.79657877
23	indole-containing compound metabolic process (GO:0042430)	3.70452611
24	kynurenine metabolic process (GO:0070189)	3.61785478
25	fucose catabolic process (GO:0019317)	3.61357383
26	L-fucose metabolic process (GO:0042354)	3.61357383
27	L-fucose catabolic process (GO:0042355)	3.61357383
28	pyrimidine deoxyribonucleotide catabolic process (GO:0009223)	3.61114882
29	negative regulation of cAMP-mediated signaling (GO:0043951)	3.59649690
30	tryptophan metabolic process (GO:0006568)	3.57705093
31	membrane depolarization during action potential (GO:0086010)	3.51032214
32	imidazole-containing compound metabolic process (GO:0052803)	3.43282289
33	phosphatidylserine acyl-chain remodeling (GO:0036150)	3.41197534
34	parturition (GO:0007567)	3.40368289
35	reflex (GO:0060004)	3.38830516
36	sperm capacitation (GO:0048240)	3.38061380
37	regulation of hippo signaling (GO:0035330)	3.37127997
38	signal peptide processing (GO:0006465)	3.36956283
39	antigen processing and presentation of endogenous antigen (GO:0019883)	3.28134215
40	positive regulation of smooth muscle contraction (GO:0045987)	3.25564267
41	regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)	3.25019438
42	negative regulation of calcium ion transport into cytosol (GO:0010523)	3.24400924
43	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	3.21119586
44	negative regulation of T cell receptor signaling pathway (GO:0050860)	3.20802452
45	phosphatidylglycerol acyl-chain remodeling (GO:0036148)	3.17127214
46	opioid receptor signaling pathway (GO:0038003)	3.15766865
47	platelet dense granule organization (GO:0060155)	3.13227850
48	negative regulation of execution phase of apoptosis (GO:1900118)	3.13106975
49	gonadal mesoderm development (GO:0007506)	3.12600429
50	cytidine metabolic process (GO:0046087)	3.12460173
51	cytidine catabolic process (GO:0006216)	3.12460173
52	cytidine deamination (GO:0009972)	3.12460173
53	regulation of female gonad development (GO:2000194)	3.12075978
54	cytokine biosynthetic process (GO:0042089)	3.09879953
55	phosphatidylinositol acyl-chain remodeling (GO:0036149)	3.09468114
56	regulation of gonadotropin secretion (GO:0032276)	3.07857815
57	positive regulation of T cell differentiation in thymus (GO:0033089)	3.07737160
58	regulation of ruffle assembly (GO:1900027)	3.03522987
59	flavonoid metabolic process (GO:0009812)	3.00730040
60	motile cilium assembly (GO:0044458)	2.99876112
61	adenosine metabolic process (GO:0046085)	2.99269819
62	benzene-containing compound metabolic process (GO:0042537)	2.96525380
63	phasic smooth muscle contraction (GO:0014821)	2.96172920
64	protein K48-linked deubiquitination (GO:0071108)	2.96008355
65	positive thymic T cell selection (GO:0045059)	2.95483891
66	regulation of gamma-delta T cell differentiation (GO:0045586)	2.93468768
67	serotonin metabolic process (GO:0042428)	2.92661779
68	transmission of nerve impulse (GO:0019226)	2.91819551
69	positive T cell selection (GO:0043368)	2.88958996
70	pyrimidine nucleotide catabolic process (GO:0006244)	2.88267739
71	regulation of G0 to G1 transition (GO:0070316)	2.87091192
72	antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)	2.82014732
73	B cell receptor signaling pathway (GO:0050853)	2.81971857
74	regulation of cytokine production involved in inflammatory response (GO:1900015)	2.81144131
75	regulation of T cell receptor signaling pathway (GO:0050856)	2.80266999
76	cytolysis (GO:0019835)	2.80007319
77	negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)	2.79902500
78	positive regulation of gamma-delta T cell activation (GO:0046645)	2.79575247
79	histone H2A acetylation (GO:0043968)	2.78408926
80	oogenesis (GO:0048477)	2.76682485
81	digestion (GO:0007586)	2.72668212
82	sleep (GO:0030431)	2.72157817
83	regulation of antigen receptor-mediated signaling pathway (GO:0050854)	2.71582332
84	reproduction (GO:0000003)	2.71277611
85	pseudouridine synthesis (GO:0001522)	2.71044096
86	phosphatidylethanolamine acyl-chain remodeling (GO:0036152)	2.71005449
87	DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 cla	2.70964395
88	membrane repolarization during cardiac muscle cell action potential (GO:0086013)	2.69192165
89	positive regulation of action potential (GO:0045760)	2.69170984
90	neuronal action potential (GO:0019228)	2.68144137
91	calcium ion import (GO:0070509)	2.67740612
92	membrane depolarization during cardiac muscle cell action potential (GO:0086012)	2.67429515
93	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G	2.67371327
94	long term synaptic depression (GO:0060292)	2.67363243
95	photoreceptor cell maintenance (GO:0045494)	2.66466894
96	negative T cell selection (GO:0043383)	2.65717060
97	phosphatidylcholine acyl-chain remodeling (GO:0036151)	2.65062770
98	positive regulation of endothelial cell differentiation (GO:0045603)	2.64515021
99	primary amino compound metabolic process (GO:1901160)	2.61836617
100	DNA deamination (GO:0045006)	2.60717809

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	EZH2_22144423_ChIP-Seq_EOC_Human	4.56697832
2	VDR_22108803_ChIP-Seq_LS180_Human	3.45698715
3	IGF1R_20145208_ChIP-Seq_DFB_Human	3.01877907
4	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.84582265
5	IRF8_22096565_ChIP-ChIP_GC-B_Human	2.65785287
6	CTBP2_25329375_ChIP-Seq_LNCAP_Human	2.56626433
7	CTBP1_25329375_ChIP-Seq_LNCAP_Human	2.33329672
8	ZNF274_21170338_ChIP-Seq_K562_Hela	2.27369333
9	DROSHA_22980978_ChIP-Seq_HELA_Human	2.16504949
10	GBX2_23144817_ChIP-Seq_PC3_Human	2.02894930
11	GATA1_22025678_ChIP-Seq_K562_Human	2.00695834
12	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	1.95480758
13	TAF15_26573619_Chip-Seq_HEK293_Human	1.94357382
14	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.88231442
15	STAT6_20620947_ChIP-Seq_CD4_POS_T_Human	1.83299599
16	IRF1_21803131_ChIP-Seq_MONOCYTES_Human	1.71343781
17	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.69485209
18	P300_19829295_ChIP-Seq_ESCs_Human	1.67943480
19	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.67437888
20	FOXP3_17237761_ChIP-ChIP_TREG_Mouse	1.66885680
21	BCAT_22108803_ChIP-Seq_LS180_Human	1.63868716
22	ER_23166858_ChIP-Seq_MCF-7_Human	1.61971008
23	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.60140545
24	JARID2_20075857_ChIP-Seq_MESCs_Mouse	1.49846797
25	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.46432159
26	EWS_26573619_Chip-Seq_HEK293_Human	1.45983981
27	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.45400590
28	NANOG_19829295_ChIP-Seq_ESCs_Human	1.44750996
29	SOX2_19829295_ChIP-Seq_ESCs_Human	1.44750996
30	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.42851487
31	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.42023240
32	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	1.40701535
33	IRF8_21731497_ChIP-ChIP_J774_Mouse	1.40189747
34	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.40033881
35	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.38626347
36	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.38626347
37	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.38359446
38	CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human	1.37925789
39	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.36465659
40	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.36066066
41	EZH2_27294783_Chip-Seq_ESCs_Mouse	1.36064470
42	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.35530873
43	VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human	1.35386041
44	AR_21572438_ChIP-Seq_LNCaP_Human	1.33102500
45	NCOR_22424771_ChIP-Seq_293T_Human	1.31669560
46	STAT3_23295773_ChIP-Seq_U87_Human	1.31364338
47	RXR_22108803_ChIP-Seq_LS180_Human	1.28412976
48	REST_21632747_ChIP-Seq_MESCs_Mouse	1.26977469
49	OCT4_20526341_ChIP-Seq_ESCs_Human	1.25637131
50	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.23696633
51	JARID2_20064375_ChIP-Seq_MESCs_Mouse	1.22247800
52	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.21363460
53	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.20800420
54	FUS_26573619_Chip-Seq_HEK293_Human	1.20627628
55	RAC3_21632823_ChIP-Seq_H3396_Human	1.19115037
56	RUNX_20019798_ChIP-Seq_JUKART_Human	1.18719211
57	RUNX2_22187159_ChIP-Seq_PCA_Human	1.16404333
58	AR_25329375_ChIP-Seq_VCAP_Human	1.14868547
59	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.14057253
60	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	1.11804439
61	SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	1.11576328
62	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.11404845
63	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.11203814
64	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.10494589
65	TAF2_19829295_ChIP-Seq_ESCs_Human	1.09803711
66	SUZ12_18974828_ChIP-Seq_MESCs_Mouse	1.09197388
67	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	1.09064708
68	EBNA2_21746931_ChIP-Seq_IB4-LCL_Human	1.08637201
69	CDX2_22108803_ChIP-Seq_LS180_Human	1.08193619
70	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.07772144
71	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	1.07757610
72	CEBPB_22108803_ChIP-Seq_LS180_Human	1.07369779
73	EBNA1_20929547_Chip-Seq_RAJI-cells_Human	1.07352936
74	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.06936136
75	NANOG_20526341_ChIP-Seq_ESCs_Human	1.06828203
76	BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human	1.06817169
77	IKZF1_21737484_ChIP-ChIP_HCT116_Human	1.06669834
78	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.06283607
79	AR_20517297_ChIP-Seq_VCAP_Human	1.05119746
80	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.04706011
81	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.04612256
82	SMAD4_21799915_ChIP-Seq_A2780_Human	1.04548219
83	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.04450134
84	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.04405834
85	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	1.04240643
86	ERG_20517297_ChIP-Seq_VCAP_Human	1.04144122
87	TP53_22573176_ChIP-Seq_HFKS_Human	1.02304774
88	RBPJ_21746931_ChIP-Seq_IB4-LCL_Human	1.01842926
89	CBP_20019798_ChIP-Seq_JUKART_Human	1.01272394
90	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.01272394
91	MYC_19829295_ChIP-Seq_ESCs_Human	1.00543482
92	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.00260675
93	SUZ12_27294783_Chip-Seq_ESCs_Mouse	0.99575100
94	TCF4_22108803_ChIP-Seq_LS180_Human	0.98895229
95	TCF4_23295773_ChIP-Seq_U87_Human	0.98712446
96	GATA2_20887958_ChIP-Seq_HPC-7_Mouse	0.98432432
97	BCL6_27268052_Chip-Seq_Bcells_Human	0.98319349
98	SMAD3_21741376_ChIP-Seq_EPCs_Human	0.97968294
99	SUZ12_20075857_ChIP-Seq_MESCs_Mouse	0.97637585
100	IRF8_22096565_ChIP-ChIP_GC-B_Mouse	0.96997901

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003136_yellow_coat_color	3.90965046
2	MP0002638_abnormal_pupillary_reflex	3.83797109
3	MP0003646_muscle_fatigue	3.40874849
4	MP0003878_abnormal_ear_physiology	3.17208205
5	MP0005377_hearing/vestibular/ear_phenot	3.17208205
6	MP0005671_abnormal_response_to	3.07384942
7	MP0006072_abnormal_retinal_apoptosis	2.90004958
8	MP0005083_abnormal_biliary_tract	2.80923478
9	MP0004043_abnormal_pH_regulation	2.77192332
10	MP0002138_abnormal_hepatobiliary_system	2.66882212
11	MP0000569_abnormal_digit_pigmentation	2.58925501
12	MP0005551_abnormal_eye_electrophysiolog	2.56966354
13	MP0003195_calcinosis	2.52642969
14	MP0003806_abnormal_nucleotide_metabolis	2.51941559
15	MP0003045_fibrosis	2.46324301
16	MP0005253_abnormal_eye_physiology	2.40589955
17	MP0001485_abnormal_pinna_reflex	2.40281532
18	MP0003950_abnormal_plasma_membrane	2.40100507
19	MP0003879_abnormal_hair_cell	2.35258396
20	MP0000372_irregular_coat_pigmentation	2.18520286
21	MP0003252_abnormal_bile_duct	2.00513290
22	MP0001501_abnormal_sleep_pattern	1.92294787
23	MP0005085_abnormal_gallbladder_physiolo	1.90865808
24	MP0001666_abnormal_nutrient_absorption	1.88830305
25	MP0003011_delayed_dark_adaptation	1.87156972
26	MP0010386_abnormal_urinary_bladder	1.74335131
27	MP0002102_abnormal_ear_morphology	1.71535115
28	MP0001986_abnormal_taste_sensitivity	1.64669190
29	MP0001764_abnormal_homeostasis	1.62804559
30	MP0005365_abnormal_bile_salt	1.62213375
31	MP0005410_abnormal_fertilization	1.50269749
32	MP0005387_immune_system_phenotype	1.41927708
33	MP0001790_abnormal_immune_system	1.41927708
34	MP0009046_muscle_twitch	1.40405862
35	MP0002332_abnormal_exercise_endurance	1.39852920
36	MP0002735_abnormal_chemical_nociception	1.39839886
37	MP0009745_abnormal_behavioral_response	1.38173409
38	MP0000685_abnormal_immune_system	1.38162037
39	MP0002733_abnormal_thermal_nociception	1.32548109
40	MP0001765_abnormal_ion_homeostasis	1.28109611
41	MP0004019_abnormal_vitamin_homeostasis	1.26709313
42	MP0001968_abnormal_touch/_nociception	1.21814259
43	MP0002928_abnormal_bile_duct	1.16404821
44	MP0002653_abnormal_ependyma_morphology	1.15414453
45	MP0002229_neurodegeneration	1.14579451
46	MP0005379_endocrine/exocrine_gland_phen	1.13659853
47	MP0005645_abnormal_hypothalamus_physiol	1.13571447
48	MP0001664_abnormal_digestion	1.12995577
49	MP0003763_abnormal_thymus_physiology	1.12549623
50	MP0003183_abnormal_peptide_metabolism	1.11934636
51	MP0008872_abnormal_physiological_respon	1.10953535
52	MP0001873_stomach_inflammation	1.09885677
53	MP0001835_abnormal_antigen_presentation	1.07201527
54	MP0005266_abnormal_metabolism	1.03371583
55	MP0005025_abnormal_response_to	1.03118872
56	MP0000538_abnormal_urinary_bladder	1.02170884
57	MP0001963_abnormal_hearing_physiology	0.97831504
58	MP0002876_abnormal_thyroid_physiology	0.97209016
59	MP0000465_gastrointestinal_hemorrhage	0.94847500
60	MP0001800_abnormal_humoral_immune	0.94580218
61	MP0003959_abnormal_lean_body	0.94439895
62	MP0001970_abnormal_pain_threshold	0.94256215
63	MP0009785_altered_susceptibility_to	0.93712109
64	MP0002067_abnormal_sensory_capabilities	0.93415291
65	MP0002693_abnormal_pancreas_physiology	0.92239996
66	MP0001486_abnormal_startle_reflex	0.90994499
67	MP0002163_abnormal_gland_morphology	0.90963917
68	MP0003635_abnormal_synaptic_transmissio	0.89537102
69	MP0002572_abnormal_emotion/affect_behav	0.89530917
70	MP0000230_abnormal_systemic_arterial	0.88875713
71	MP0002095_abnormal_skin_pigmentation	0.88492978
72	MP0006276_abnormal_autonomic_nervous	0.88324103
73	MP0002723_abnormal_immune_serum	0.87668291
74	MP0005171_absent_coat_pigmentation	0.84989567
75	MP0002272_abnormal_nervous_system	0.83841110
76	MP0004215_abnormal_myocardial_fiber	0.83078336
77	MP0005195_abnormal_posterior_eye	0.82943891
78	MP0005075_abnormal_melanosome_morpholog	0.82359134
79	MP0002736_abnormal_nociception_after	0.82238983
80	MP0003638_abnormal_response/metabolism_	0.79877846
81	MP0005636_abnormal_mineral_homeostasis	0.79147806
82	MP0002148_abnormal_hypersensitivity_rea	0.77054799
83	MP0000427_abnormal_hair_cycle	0.76319758
84	MP0003866_abnormal_defecation	0.75774820
85	MP0004381_abnormal_hair_follicle	0.75091718
86	MP0000026_abnormal_inner_ear	0.75045865
87	MP0005451_abnormal_body_composition	0.74692250
88	MP0002160_abnormal_reproductive_system	0.74685289
89	MP0001929_abnormal_gametogenesis	0.74190087
90	MP0002168_other_aberrant_phenotype	0.73717711
91	MP0000371_diluted_coat_color	0.71917824
92	MP0005391_vision/eye_phenotype	0.70568704
93	MP0002452_abnormal_antigen_presenting	0.70520683
94	MP0002420_abnormal_adaptive_immunity	0.69730892
95	MP0002752_abnormal_somatic_nervous	0.69713160
96	MP0003698_abnormal_male_reproductive	0.69481976
97	MP0000631_abnormal_neuroendocrine_gland	0.69079753
98	MP0001905_abnormal_dopamine_level	0.69007713
99	MP0001819_abnormal_immune_cell	0.68415726
100	MP0002064_seizures	0.68113506

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Congenital stationary night blindness (HP:0007642)	8.52163326
2	Abnormality of the renal collecting system (HP:0004742)	4.15243721
3	Agammaglobulinemia (HP:0004432)	4.11705842
4	Decreased circulating renin level (HP:0003351)	3.84730344
5	Abolished electroretinogram (ERG) (HP:0000550)	3.84443250
6	Proximal tubulopathy (HP:0000114)	3.84041515
7	Generalized aminoaciduria (HP:0002909)	3.83083641
8	Chronic sinusitis (HP:0011109)	3.76205442
9	Pancreatic cysts (HP:0001737)	3.72697662
10	Duplicated collecting system (HP:0000081)	3.67275059
11	Prostate neoplasm (HP:0100787)	3.61095661
12	Clumsiness (HP:0002312)	3.47066970
13	Persistence of primary teeth (HP:0006335)	3.20514658
14	Increased neuronal autofluorescent lipopigment (HP:0002074)	3.11295637
15	Attenuation of retinal blood vessels (HP:0007843)	3.07916517
16	Congenital sensorineural hearing impairment (HP:0008527)	3.07234684
17	Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)	3.04331907
18	True hermaphroditism (HP:0010459)	3.03797335
19	Bony spicule pigmentary retinopathy (HP:0007737)	3.00752490
20	Elevated erythrocyte sedimentation rate (HP:0003565)	2.92965990
21	IgM deficiency (HP:0002850)	2.91528914
22	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.91077919
23	Recurrent bronchitis (HP:0002837)	2.88719395
24	Cystic liver disease (HP:0006706)	2.87991686
25	Protruding tongue (HP:0010808)	2.84817547
26	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.77003620
27	Pancreatic fibrosis (HP:0100732)	2.76086784
28	IgG deficiency (HP:0004315)	2.70271479
29	Increased corneal curvature (HP:0100692)	2.60029871
30	Keratoconus (HP:0000563)	2.60029871
31	Abnormality of B cell number (HP:0010975)	2.58079369
32	Bile duct proliferation (HP:0001408)	2.54686219
33	Abnormal biliary tract physiology (HP:0012439)	2.54686219
34	Abnormal rod and cone electroretinograms (HP:0008323)	2.53385276
35	Abnormality of midbrain morphology (HP:0002418)	2.49835332
36	Molar tooth sign on MRI (HP:0002419)	2.49835332
37	Chromosomal breakage induced by crosslinking agents (HP:0003221)	2.45036705
38	Concave nail (HP:0001598)	2.43108578
39	Constricted visual fields (HP:0001133)	2.42488004
40	Bilateral sensorineural hearing impairment (HP:0008619)	2.42432574
41	Sclerocornea (HP:0000647)	2.41903080
42	Increased cerebral lipofuscin (HP:0011813)	2.41353386
43	Recurrent pneumonia (HP:0006532)	2.39495463
44	Supernumerary spleens (HP:0009799)	2.38651079
45	Abnormal ciliary motility (HP:0012262)	2.31612336
46	Severe visual impairment (HP:0001141)	2.26629665
47	Autoimmune thrombocytopenia (HP:0001973)	2.24787862
48	Abnormality of the proximal phalanges of the hand (HP:0009834)	2.23750901
49	Cerebral palsy (HP:0100021)	2.19950834
50	Abnormality of the renal cortex (HP:0011035)	2.19903543
51	Decreased central vision (HP:0007663)	2.19494914
52	Azoospermia (HP:0000027)	2.16058249
53	Abnormality of renin-angiotensin system (HP:0000847)	2.15942312
54	Reticulocytopenia (HP:0001896)	2.15522481
55	Genetic anticipation (HP:0003743)	2.15067888
56	3-Methylglutaconic aciduria (HP:0003535)	2.12190381
57	Abnormality of dentin (HP:0010299)	2.10623861
58	Abnormality of the dental pulp (HP:0006479)	2.07048777
59	Chromsome breakage (HP:0040012)	2.06097919
60	Hypokalemia (HP:0002900)	2.05261413
61	Clubbing of toes (HP:0100760)	2.03060572
62	Hypoplasia of the pons (HP:0012110)	2.00392178
63	Aplasia/Hypoplasia of the macula (HP:0008059)	1.99351909
64	Abnormal spermatogenesis (HP:0008669)	1.97788911
65	Abnormality of T cell physiology (HP:0011840)	1.97428090
66	Abnormality of DNA repair (HP:0003254)	1.95000432
67	Bronchitis (HP:0012387)	1.94395135
68	Cortical visual impairment (HP:0100704)	1.94373675
69	Diplopia (HP:0000651)	1.92463868
70	Abnormality of binocular vision (HP:0011514)	1.92463868
71	Central scotoma (HP:0000603)	1.90733552
72	B lymphocytopenia (HP:0010976)	1.90334583
73	Abnormality of the pons (HP:0007361)	1.90232971
74	Abnormality of T cells (HP:0002843)	1.89480903
75	Type 2 muscle fiber atrophy (HP:0003554)	1.89468900
76	Nephronophthisis (HP:0000090)	1.86768094
77	Abnormality of pyrimidine metabolism (HP:0004353)	1.86762516
78	Renal cortical cysts (HP:0000803)	1.86616950
79	Abnormality of T cell number (HP:0011839)	1.86479060
80	Autoimmune hemolytic anemia (HP:0001890)	1.86286981
81	Focal seizures (HP:0007359)	1.84891853
82	Duplication of thumb phalanx (HP:0009942)	1.84358941
83	Nonprogressive disorder (HP:0003680)	1.84037950
84	Pendular nystagmus (HP:0012043)	1.83964110
85	Abnormality of the prostate (HP:0008775)	1.83049982
86	Aplasia/Hypoplasia affecting the retina (HP:0008061)	1.82736789
87	Abnormal protein glycosylation (HP:0012346)	1.79541964
88	Abnormal glycosylation (HP:0012345)	1.79541964
89	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	1.79541964
90	Abnormal protein N-linked glycosylation (HP:0012347)	1.79541964
91	Alkalosis (HP:0001948)	1.78576798
92	Limb dystonia (HP:0002451)	1.76902369
93	Abnormality of potassium homeostasis (HP:0011042)	1.76793933
94	Congenital hepatic fibrosis (HP:0002612)	1.76631345
95	Palpebral edema (HP:0100540)	1.76180339
96	Type I transferrin isoform profile (HP:0003642)	1.74867086
97	Aplasia/Hypoplasia of the uvula (HP:0010293)	1.74286853
98	Hyperkalemia (HP:0002153)	1.73227692
99	Febrile seizures (HP:0002373)	1.72927047
100	Chronic hepatic failure (HP:0100626)	1.72396953

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	GRK1	5.36544146
2	FRK	3.51298073
3	INSRR	3.51029494
4	ADRBK2	2.85633223
5	LATS1	2.48082055
6	ZAK	2.31118581
7	TAOK3	2.20664772
8	KDR	2.19164755
9	TESK2	11.0994229
10	SIK3	1.99725058
11	SIK2	1.82118620
12	ITK	1.66622190
13	MAPKAPK3	1.64208227
14	STK16	1.54265742
15	SIK1	1.45321523
16	ACVR1B	1.43547065
17	WNK4	1.37876854
18	TXK	1.35010225
19	MARK3	1.27118011
20	MAP3K11	1.15034964
21	TLK1	1.07540096
22	SYK	1.05341259
23	NME1	1.04278139
24	NUAK1	0.99728670
25	MAP4K1	0.96654236
26	MAP3K13	0.95018131
27	TEC	0.94838749
28	CDK19	0.93317268
29	DDR2	0.87675472
30	OXSR1	0.87669504
31	BMPR1B	0.86528372
32	TNK2	0.85295266
33	PIK3CG	0.76800555
34	BTK	0.74811703
35	MAPK15	0.74505283
36	ADRBK1	0.74452200
37	EIF2AK1	0.71882222
38	KIT	0.70734265
39	STK39	0.67639158
40	DAPK1	0.65464234
41	SCYL2	0.64053213
42	NTRK3	0.59797393
43	LCK	0.58762019
44	LIMK1	0.55567951
45	LYN	0.54752638
46	JAK3	0.54548148
47	PTK2B	0.52161671
48	STK3	0.46246968
49	PRKCQ	0.44723941
50	TBK1	0.41727927
51	EIF2AK3	0.41539834
52	PRKACA	0.41510928
53	IKBKE	0.40185878
54	GRK5	0.37802468
55	PRKCG	0.37375161
56	TYK2	0.37188934
57	CAMK2A	0.36244536
58	PRKG2	0.36107295
59	CAMKK1	0.36106850
60	TIE1	0.33644454
61	CAMK2B	0.33196820
62	PASK	0.33053417
63	HCK	0.32810112
64	PRKCB	0.32774496
65	MAPK13	0.32124757
66	PRKACG	0.31742218
67	OBSCN	0.30653807
68	LMTK2	0.30050332
69	GRK7	0.29337820
70	CSK	0.29239955
71	TESK1	0.29041450
72	BLK	0.28580174
73	MAP2K6	0.28275092
74	STK38L	0.28043109
75	INSR	0.27363357
76	TRPM7	0.27279018
77	CHEK2	0.26884565
78	CCNB1	0.26003474
79	MUSK	0.25690831
80	WNK3	0.25015993
81	PRKAA2	0.24860622
82	PRKCE	0.24531193
83	PRKCA	0.23299299
84	RPS6KB2	0.22959734
85	PKN1	0.22573666
86	PRKAA1	0.22101163
87	MAPK7	0.21277193
88	ZAP70	0.20971990
89	IKBKB	0.20413242
90	WNK1	0.20323336
91	PRKCI	0.18736326
92	FES	0.17135386
93	FYN	0.16926149
94	PRKACB	0.16594041
95	MAP3K7	0.16379024
96	PIM1	0.15826316
97	IGF1R	0.15333746
98	CSNK1A1	0.14784561
99	RPS6KA5	0.13499023
100	PRKCH	0.11159162

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Phototransduction_Homo sapiens_hsa04744	4.99189360
2	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	3.27772259
3	Linoleic acid metabolism_Homo sapiens_hsa00591	3.14331314
4	Primary immunodeficiency_Homo sapiens_hsa05340	3.12000136
5	Pancreatic secretion_Homo sapiens_hsa04972	2.18508534
6	Retinol metabolism_Homo sapiens_hsa00830	2.11586125
7	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	2.04355123
8	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	2.02696458
9	ABC transporters_Homo sapiens_hsa02010	1.94309778
10	One carbon pool by folate_Homo sapiens_hsa00670	1.87380859
11	Fat digestion and absorption_Homo sapiens_hsa04975	1.83774470
12	Morphine addiction_Homo sapiens_hsa05032	1.83223698
13	Olfactory transduction_Homo sapiens_hsa04740	1.83171721
14	Primary bile acid biosynthesis_Homo sapiens_hsa00120	1.77728006
15	Tryptophan metabolism_Homo sapiens_hsa00380	1.77711755
16	Taste transduction_Homo sapiens_hsa04742	1.75092605
17	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.73933476
18	Ether lipid metabolism_Homo sapiens_hsa00565	1.73920191
19	Nicotine addiction_Homo sapiens_hsa05033	1.62463839
20	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.60850039
21	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.60408489
22	Protein digestion and absorption_Homo sapiens_hsa04974	1.58454531
23	Histidine metabolism_Homo sapiens_hsa00340	1.56990358
24	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.56305539
25	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.53018744
26	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	1.44607748
27	Ovarian steroidogenesis_Homo sapiens_hsa04913	1.42017402
28	Serotonergic synapse_Homo sapiens_hsa04726	1.41700881
29	Circadian entrainment_Homo sapiens_hsa04713	1.39485894
30	Butanoate metabolism_Homo sapiens_hsa00650	1.36705052
31	Graft-versus-host disease_Homo sapiens_hsa05332	1.36245359
32	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.30491750
33	Drug metabolism - other enzymes_Homo sapiens_hsa00983	1.26168871
34	Calcium signaling pathway_Homo sapiens_hsa04020	1.24189424
35	GABAergic synapse_Homo sapiens_hsa04727	1.23637350
36	Nitrogen metabolism_Homo sapiens_hsa00910	1.23312580
37	Antigen processing and presentation_Homo sapiens_hsa04612	1.22712760
38	Glycerolipid metabolism_Homo sapiens_hsa00561	1.22608843
39	Vitamin digestion and absorption_Homo sapiens_hsa04977	1.20789873
40	Cyanoamino acid metabolism_Homo sapiens_hsa00460	1.20441302
41	Glutamatergic synapse_Homo sapiens_hsa04724	1.19145509
42	Allograft rejection_Homo sapiens_hsa05330	1.15643350
43	Vascular smooth muscle contraction_Homo sapiens_hsa04270	1.12561750
44	Type I diabetes mellitus_Homo sapiens_hsa04940	1.12311973
45	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	1.11038101
46	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	1.10985056
47	Hematopoietic cell lineage_Homo sapiens_hsa04640	1.10863825
48	Salivary secretion_Homo sapiens_hsa04970	1.10069683
49	Selenocompound metabolism_Homo sapiens_hsa00450	1.07964528
50	Chemical carcinogenesis_Homo sapiens_hsa05204	1.07525659
51	Autoimmune thyroid disease_Homo sapiens_hsa05320	1.01772505
52	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.99580994
53	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.99504273
54	Renin-angiotensin system_Homo sapiens_hsa04614	0.99103024
55	Propanoate metabolism_Homo sapiens_hsa00640	0.89564591
56	Asthma_Homo sapiens_hsa05310	0.86438388
57	Fanconi anemia pathway_Homo sapiens_hsa03460	0.80738107
58	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.79080457
59	Bile secretion_Homo sapiens_hsa04976	0.78952153
60	Caffeine metabolism_Homo sapiens_hsa00232	0.78806222
61	Homologous recombination_Homo sapiens_hsa03440	0.71613202
62	Cardiac muscle contraction_Homo sapiens_hsa04260	0.70340419
63	Renin secretion_Homo sapiens_hsa04924	0.68401865
64	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.68166228
65	Ribosome_Homo sapiens_hsa03010	0.63697253
66	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.63237464
67	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.61998017
68	Gastric acid secretion_Homo sapiens_hsa04971	0.60795155
69	Purine metabolism_Homo sapiens_hsa00230	0.59394886
70	beta-Alanine metabolism_Homo sapiens_hsa00410	0.59173692
71	Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750	0.58919493
72	Cholinergic synapse_Homo sapiens_hsa04725	0.57637426
73	Carbohydrate digestion and absorption_Homo sapiens_hsa04973	0.56860939
74	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.56779252
75	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.56075078
76	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.53669404
77	Mineral absorption_Homo sapiens_hsa04978	0.51889102
78	Natural killer cell mediated cytotoxicity_Homo sapiens_hsa04650	0.49781606
79	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.47928121
80	Platelet activation_Homo sapiens_hsa04611	0.47253873
81	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	0.45217070
82	Dilated cardiomyopathy_Homo sapiens_hsa05414	0.42808505
83	Insulin secretion_Homo sapiens_hsa04911	0.41867350
84	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.40920997
85	Systemic lupus erythematosus_Homo sapiens_hsa05322	0.39875100
86	Pyrimidine metabolism_Homo sapiens_hsa00240	0.39726456
87	African trypanosomiasis_Homo sapiens_hsa05143	0.38987857
88	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.36539774
89	PPAR signaling pathway_Homo sapiens_hsa03320	0.35638802
90	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.35446821
91	T cell receptor signaling pathway_Homo sapiens_hsa04660	0.35264702
92	Chemokine signaling pathway_Homo sapiens_hsa04062	0.35258420
93	Peroxisome_Homo sapiens_hsa04146	0.32706152
94	cAMP signaling pathway_Homo sapiens_hsa04024	0.30627057
95	Ras signaling pathway_Homo sapiens_hsa04014	0.29304805
96	Steroid biosynthesis_Homo sapiens_hsa00100	0.28361510
97	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.28268447
98	Metabolic pathways_Homo sapiens_hsa01100	0.25360976
99	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.24616794
100	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.21783714

DUX4L19

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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