ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	protein neddylation (GO:0045116)	5.98596467
2	regulation of skeletal muscle contraction (GO:0014819)	4.66684618
3	thrombin receptor signaling pathway (GO:0070493)	4.54556369
4	negative regulation of heart rate (GO:0010459)	4.09720982
5	negative regulation of thymocyte apoptotic process (GO:0070244)	3.75256676
6	negative regulation of macrophage derived foam cell differentiation (GO:0010745)	3.74221850
7	dopamine transport (GO:0015872)	3.72838100
8	negative regulation of protein localization to cell surface (GO:2000009)	3.68057570
9	purinergic nucleotide receptor signaling pathway (GO:0035590)	3.61538442
10	negative regulation of appetite (GO:0032099)	3.61460045
11	negative regulation of response to food (GO:0032096)	3.61460045
12	positive regulation of protein homodimerization activity (GO:0090073)	3.46968066
13	positive regulation of cAMP-mediated signaling (GO:0043950)	3.45469215
14	positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)	3.43223766
15	adenosine metabolic process (GO:0046085)	3.42789408
16	sarcoplasmic reticulum calcium ion transport (GO:0070296)	3.37995034
17	regulation of platelet aggregation (GO:0090330)	3.35590118
18	regulation of platelet activation (GO:0010543)	3.31604431
19	negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)	3.30402338
20	platelet dense granule organization (GO:0060155)	3.29366866
21	neutrophil activation involved in immune response (GO:0002283)	3.27696164
22	triglyceride-rich lipoprotein particle remodeling (GO:0034370)	3.27551266
23	fusion of sperm to egg plasma membrane (GO:0007342)	3.24732240
24	regulation of memory T cell differentiation (GO:0043380)	3.24223245
25	behavioral response to nicotine (GO:0035095)	3.23621822
26	regulation of lipoprotein metabolic process (GO:0050746)	3.21120977
27	negative regulation of calcium ion transmembrane transport (GO:1903170)	3.19610187
28	negative regulation of calcium ion transmembrane transporter activity (GO:1901020)	3.19610187
29	positive regulation of mitochondrial calcium ion concentration (GO:0051561)	3.19010039
30	negative regulation of platelet activation (GO:0010544)	3.14221605
31	amine catabolic process (GO:0009310)	3.12347647
32	cellular biogenic amine catabolic process (GO:0042402)	3.12347647
33	regulation of integrin-mediated signaling pathway (GO:2001044)	3.12332338
34	diol metabolic process (GO:0034311)	3.04382424
35	adaptation of signaling pathway (GO:0023058)	3.03365902
36	sphingoid metabolic process (GO:0046519)	3.02344521
37	G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)	3.01852613
38	muscle filament sliding (GO:0030049)	3.01698501
39	actin-myosin filament sliding (GO:0033275)	3.01698501
40	regulation of MHC class II biosynthetic process (GO:0045346)	2.97053177
41	neuronal action potential propagation (GO:0019227)	2.93279848
42	sphingosine metabolic process (GO:0006670)	2.92233286
43	phosphatidylinositol acyl-chain remodeling (GO:0036149)	2.91601996
44	regulation of cilium movement (GO:0003352)	2.91204928
45	phospholipid homeostasis (GO:0055091)	2.90668613
46	cytidine metabolic process (GO:0046087)	2.86311623
47	cytidine catabolic process (GO:0006216)	2.86311623
48	cytidine deamination (GO:0009972)	2.86311623
49	pyrimidine nucleoside catabolic process (GO:0046135)	2.85131081
50	erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)	2.83678529
51	L-phenylalanine catabolic process (GO:0006559)	2.83678529
52	regulation of meiosis I (GO:0060631)	2.82160612
53	regulation of macrophage derived foam cell differentiation (GO:0010743)	2.81739882
54	membrane depolarization during cardiac muscle cell action potential (GO:0086012)	2.80842885
55	DNA deamination (GO:0045006)	2.80718735
56	low-density lipoprotein particle remodeling (GO:0034374)	2.80121915
57	skeletal muscle contraction (GO:0003009)	2.79267497
58	regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	2.78452493
59	detection of light stimulus involved in sensory perception (GO:0050962)	2.78195624
60	detection of light stimulus involved in visual perception (GO:0050908)	2.78195624
61	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	2.76457390
62	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	2.75891070
63	regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	2.75290319
64	negative regulation of norepinephrine secretion (GO:0010700)	2.74978159
65	leukocyte migration involved in inflammatory response (GO:0002523)	2.74519657
66	regulation of relaxation of muscle (GO:1901077)	2.68201928
67	regulation of hexokinase activity (GO:1903299)	2.67277542
68	regulation of glucokinase activity (GO:0033131)	2.67277542
69	blood coagulation, intrinsic pathway (GO:0007597)	2.65955426
70	skeletal muscle tissue regeneration (GO:0043403)	2.63729156
71	positive regulation of endothelial cell differentiation (GO:0045603)	2.60984950
72	piRNA metabolic process (GO:0034587)	2.60326830
73	regulation of rhodopsin mediated signaling pathway (GO:0022400)	2.59415288
74	high-density lipoprotein particle remodeling (GO:0034375)	2.59152669
75	rhodopsin mediated signaling pathway (GO:0016056)	2.56551288
76	reverse cholesterol transport (GO:0043691)	2.56265843
77	multicellular organism reproduction (GO:0032504)	2.56157124
78	termination of G-protein coupled receptor signaling pathway (GO:0038032)	2.55482874
79	actin-mediated cell contraction (GO:0070252)	2.54661217
80	plasma membrane fusion (GO:0045026)	2.53550404
81	relaxation of muscle (GO:0090075)	2.51674158
82	DNA methylation involved in gamete generation (GO:0043046)	2.51029097
83	aromatic amino acid family catabolic process (GO:0009074)	2.50965432
84	regulation of acyl-CoA biosynthetic process (GO:0050812)	2.50906338
85	xenobiotic catabolic process (GO:0042178)	2.49928824
86	positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic proc	2.49001150
87	negative regulation of muscle contraction (GO:0045932)	2.48816586
88	glycerophospholipid catabolic process (GO:0046475)	2.46920066
89	regulation of sarcomere organization (GO:0060297)	2.46862906
90	indolalkylamine metabolic process (GO:0006586)	2.46597946
91	negative regulation of calcium ion transport into cytosol (GO:0010523)	2.46589414
92	negative regulation of hematopoietic progenitor cell differentiation (GO:1901533)	2.45297192
93	negative regulation of cation channel activity (GO:2001258)	2.44821551
94	purinergic receptor signaling pathway (GO:0035587)	2.43117352
95	negative regulation of heart contraction (GO:0045822)	2.42764275
96	axoneme assembly (GO:0035082)	2.41894334
97	synaptic transmission, cholinergic (GO:0007271)	2.40429514
98	male meiosis (GO:0007140)	2.39735465
99	negative regulation of homotypic cell-cell adhesion (GO:0034111)	2.38673931
100	regulation of appetite (GO:0032098)	2.38631199

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	GBX2_23144817_ChIP-Seq_PC3_Human	3.50972328
2	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	3.16389054
3	EZH2_22144423_ChIP-Seq_EOC_Human	2.69311819
4	VDR_22108803_ChIP-Seq_LS180_Human	2.66839154
5	IGF1R_20145208_ChIP-Seq_DFB_Human	2.64703144
6	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	2.49231480
7	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.41807500
8	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	2.40537933
9	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.33005006
10	TAF15_26573619_Chip-Seq_HEK293_Human	2.12033774
11	ZNF274_21170338_ChIP-Seq_K562_Hela	2.07089664
12	SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	1.95931513
13	ER_23166858_ChIP-Seq_MCF-7_Human	1.93413857
14	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.91322480
15	P300_19829295_ChIP-Seq_ESCs_Human	1.85970492
16	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.83494903
17	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.75690028
18	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.71582818
19	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.67566590
20	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.64234285
21	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.64121244
22	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.63952714
23	SMAD4_21799915_ChIP-Seq_A2780_Human	1.63712788
24	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.62081664
25	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.61555410
26	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.59153283
27	CDX2_19796622_ChIP-Seq_MESCs_Mouse	1.58918213
28	EWS_26573619_Chip-Seq_HEK293_Human	1.57424168
29	SOX2_19829295_ChIP-Seq_ESCs_Human	1.51844978
30	NANOG_19829295_ChIP-Seq_ESCs_Human	1.51844978
31	BCAT_22108803_ChIP-Seq_LS180_Human	1.51359717
32	AR_25329375_ChIP-Seq_VCAP_Human	1.50604587
33	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.50282295
34	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.48471155
35	FOXP3_17237761_ChIP-ChIP_TREG_Mouse	1.45993567
36	STAT3_23295773_ChIP-Seq_U87_Human	1.45406423
37	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.44560501
38	HTT_18923047_ChIP-ChIP_STHdh_Human	1.40415560
39	TCF4_23295773_ChIP-Seq_U87_Human	1.39594567
40	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.39526341
41	FUS_26573619_Chip-Seq_HEK293_Human	1.39058999
42	AR_21572438_ChIP-Seq_LNCaP_Human	1.39048515
43	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	1.38870540
44	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.37691740
45	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.37010144
46	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.36172204
47	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.33335613
48	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.33227817
49	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.33122740
50	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.31827169
51	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.31191633
52	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.30590598
53	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.30396101
54	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.29102062
55	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.25345390
56	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	1.24849040
57	OCT4_21477851_ChIP-Seq_ESCs_Mouse	1.24131292
58	GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	1.23231204
59	P53_22387025_ChIP-Seq_ESCs_Mouse	1.22898691
60	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.22831792
61	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.22606815
62	CBP_20019798_ChIP-Seq_JUKART_Human	1.22606815
63	TP53_22573176_ChIP-Seq_HFKS_Human	1.22005662
64	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.21126274
65	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	1.21126274
66	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	1.21118311
67	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.20734952
68	GATA1_22025678_ChIP-Seq_K562_Human	1.20733584
69	LMO2_20887958_ChIP-Seq_HPC-7_Mouse	1.18935228
70	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.18211078
71	CDX2_22108803_ChIP-Seq_LS180_Human	1.17616672
72	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.16732652
73	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.16487854
74	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	1.15400817
75	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.15277714
76	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.15277714
77	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.14216734
78	TCF4_22108803_ChIP-Seq_LS180_Human	1.14086131
79	E2F1_18555785_Chip-Seq_ESCs_Mouse	1.11472535
80	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.09525014
81	STAT3_18555785_Chip-Seq_ESCs_Mouse	1.07885452
82	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.07875799
83	AR_20517297_ChIP-Seq_VCAP_Human	1.07326596
84	HOXB7_26014856_ChIP-Seq_BT474_Human	1.07283752
85	NRF2_20460467_ChIP-Seq_MEFs_Mouse	1.06583517
86	NFE2L2_20460467_ChIP-Seq_MEFs_Mouse	1.06583517
87	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.04997594
88	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	1.04382411
89	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.03955779
90	TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse	1.03737415
91	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.03695456
92	GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human	1.02991902
93	PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse	1.02500035
94	EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse	1.01862965
95	KLF5_20875108_ChIP-Seq_MESCs_Mouse	1.00637680
96	SCL_19346495_ChIP-Seq_HPC-7_Human	0.99777474
97	SUZ12_18555785_Chip-Seq_ESCs_Mouse	0.99197961
98	PHF8_20622853_ChIP-Seq_HELA_Human	0.98806027
99	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	0.98406492
100	NCOR_22424771_ChIP-Seq_293T_Human	0.96873478

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003646_muscle_fatigue	4.72888577
2	MP0005464_abnormal_platelet_physiology	4.46863947
3	MP0002837_dystrophic_cardiac_calcinosis	4.38183187
4	MP0003136_yellow_coat_color	3.02530814
5	MP0004084_abnormal_cardiac_muscle	2.98094727
6	MP0004145_abnormal_muscle_electrophysio	2.90545875
7	MP0004036_abnormal_muscle_relaxation	2.70361734
8	MP0008872_abnormal_physiological_respon	2.42795739
9	MP0008004_abnormal_stomach_pH	2.36680158
10	MP0004215_abnormal_myocardial_fiber	2.16500846
11	MP0000749_muscle_degeneration	2.15627528
12	MP0002736_abnormal_nociception_after	2.14697540
13	MP0004130_abnormal_muscle_cell	2.11910310
14	MP0008775_abnormal_heart_ventricle	2.09863185
15	MP0000372_irregular_coat_pigmentation	2.04013914
16	MP0005646_abnormal_pituitary_gland	1.91900689
17	MP0004147_increased_porphyrin_level	1.91350885
18	MP0002332_abnormal_exercise_endurance	1.86623701
19	MP0000230_abnormal_systemic_arterial	1.85608034
20	MP0002102_abnormal_ear_morphology	1.84010362
21	MP0003724_increased_susceptibility_to	1.83860943
22	MP0005410_abnormal_fertilization	1.82743203
23	MP0005620_abnormal_muscle_contractility	1.81633969
24	MP0004484_altered_response_of	1.81386672
25	MP0006036_abnormal_mitochondrial_physio	1.79348956
26	MP0001968_abnormal_touch/_nociception	1.78337703
27	MP0009780_abnormal_chondrocyte_physiolo	1.76111742
28	MP0005167_abnormal_blood-brain_barrier	1.68512748
29	MP0005551_abnormal_eye_electrophysiolog	1.65169833
30	MP0005171_absent_coat_pigmentation	1.63287089
31	MP0003195_calcinosis	1.61470193
32	MP0008877_abnormal_DNA_methylation	1.61366027
33	MP0003879_abnormal_hair_cell	1.59997230
34	MP0004043_abnormal_pH_regulation	1.57910250
35	MP0002653_abnormal_ependyma_morphology	1.53976489
36	MP0004142_abnormal_muscle_tone	1.53395049
37	MP0002876_abnormal_thyroid_physiology	1.52123663
38	MP0003045_fibrosis	1.51347745
39	MP0006276_abnormal_autonomic_nervous	1.41529395
40	MP0002733_abnormal_thermal_nociception	1.37812711
41	MP0002972_abnormal_cardiac_muscle	1.37807302
42	MP0005084_abnormal_gallbladder_morpholo	1.35716271
43	MP0002638_abnormal_pupillary_reflex	1.35087251
44	MP0002106_abnormal_muscle_physiology	1.29932100
45	MP0001984_abnormal_olfaction	1.27990482
46	MP0009046_muscle_twitch	1.27851360
47	MP0004510_myositis	1.23555043
48	MP0003950_abnormal_plasma_membrane	1.23464103
49	MP0004085_abnormal_heartbeat	1.17811858
50	MP0005645_abnormal_hypothalamus_physiol	1.16972773
51	MP0005083_abnormal_biliary_tract	1.14579263
52	MP0005671_abnormal_response_to	1.12317005
53	MP0001970_abnormal_pain_threshold	1.12174427
54	MP0003638_abnormal_response/metabolism_	1.10596500
55	MP0001501_abnormal_sleep_pattern	1.10104291
56	MP0000569_abnormal_digit_pigmentation	1.08313394
57	MP0010329_abnormal_lipoprotein_level	1.06773715
58	MP0008875_abnormal_xenobiotic_pharmacok	1.06568959
59	MP0009745_abnormal_behavioral_response	1.03250611
60	MP0009764_decreased_sensitivity_to	1.02709859
61	MP0003011_delayed_dark_adaptation	1.01750807
62	MP0001544_abnormal_cardiovascular_syste	1.00943791
63	MP0005385_cardiovascular_system_phenoty	1.00943791
64	MP0001485_abnormal_pinna_reflex	1.00683271
65	MP0000427_abnormal_hair_cycle	0.99276038
66	MP0005174_abnormal_tail_pigmentation	0.97578985
67	MP0003137_abnormal_impulse_conducting	0.96486896
68	MP0000465_gastrointestinal_hemorrhage	0.94582221
69	MP0005253_abnormal_eye_physiology	0.94248803
70	MP0005369_muscle_phenotype	0.92380944
71	MP0004885_abnormal_endolymph	0.91920662
72	MP0000343_altered_response_to	0.90782124
73	MP0005670_abnormal_white_adipose	0.89282598
74	MP0002272_abnormal_nervous_system	0.89194265
75	MP0001486_abnormal_startle_reflex	0.88500410
76	MP0005266_abnormal_metabolism	0.83944362
77	MP0000383_abnormal_hair_follicle	0.83493269
78	MP0003880_abnormal_central_pattern	0.83041933
79	MP0001835_abnormal_antigen_presentation	0.79338993
80	MP0002735_abnormal_chemical_nociception	0.77576970
81	MP0010386_abnormal_urinary_bladder	0.77210444
82	MP0002095_abnormal_skin_pigmentation	0.76368932
83	MP0001879_abnormal_lymphatic_vessel	0.76106809
84	MP0002078_abnormal_glucose_homeostasis	0.76054419
85	MP0006035_abnormal_mitochondrial_morpho	0.75712000
86	MP0003787_abnormal_imprinting	0.74617082
87	MP0005535_abnormal_body_temperature	0.73883734
88	MP0002067_abnormal_sensory_capabilities	0.71676438
89	MP0001986_abnormal_taste_sensitivity	0.71422333
90	MP0005448_abnormal_energy_balance	0.70735299
91	MP0002148_abnormal_hypersensitivity_rea	0.70363998
92	MP0001765_abnormal_ion_homeostasis	0.70322517
93	MP0003718_maternal_effect	0.70089506
94	MP0005075_abnormal_melanosome_morpholog	0.69270285
95	MP0000015_abnormal_ear_pigmentation	0.67547006
96	MP0002693_abnormal_pancreas_physiology	0.67447294
97	MP0005085_abnormal_gallbladder_physiolo	0.67122634
98	MP0001529_abnormal_vocalization	0.66896070
99	MP0002118_abnormal_lipid_homeostasis	0.65555384
100	MP0002064_seizures	0.65095103

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Prolonged bleeding time (HP:0003010)	5.49101343
2	Petechiae (HP:0000967)	4.92919409
3	Menorrhagia (HP:0000132)	4.64711597
4	Muscle fiber inclusion bodies (HP:0100299)	4.41376081
5	Increased mean platelet volume (HP:0011877)	4.36713491
6	Nemaline bodies (HP:0003798)	4.08078037
7	Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)	4.03393704
8	Abnormal platelet volume (HP:0011876)	3.94876757
9	Purpura (HP:0000979)	3.75493387
10	Nonprogressive disorder (HP:0003680)	3.74032053
11	Hyperlipoproteinemia (HP:0010980)	3.72734732
12	Exercise-induced muscle cramps (HP:0003710)	3.51175599
13	Muscle hypertrophy of the lower extremities (HP:0008968)	3.42520228
14	Epistaxis (HP:0000421)	3.33738945
15	Exercise-induced myalgia (HP:0003738)	3.30120941
16	Calf muscle hypertrophy (HP:0008981)	3.24208855
17	Abnormality of the renal cortex (HP:0011035)	3.01199166
18	Decreased central vision (HP:0007663)	3.00509383
19	Pancreatic cysts (HP:0001737)	3.00035313
20	Dyschromatopsia (HP:0007641)	2.97559987
21	Abnormal pupillary function (HP:0007686)	2.84491245
22	Gingival bleeding (HP:0000225)	2.75760783
23	Stomatitis (HP:0010280)	2.69660690
24	Renal cortical cysts (HP:0000803)	2.63585186
25	Poikilocytosis (HP:0004447)	2.62415109
26	Acanthocytosis (HP:0001927)	2.60697323
27	Paralysis (HP:0003470)	2.51223861
28	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.45931099
29	Abnormality of alanine metabolism (HP:0010916)	2.45931099
30	Hyperalaninemia (HP:0003348)	2.45931099
31	Congenital stationary night blindness (HP:0007642)	2.38693629
32	3-Methylglutaconic aciduria (HP:0003535)	2.38353041
33	Pancreatic fibrosis (HP:0100732)	2.34355859
34	Distal arthrogryposis (HP:0005684)	2.33896264
35	Myoglobinuria (HP:0002913)	2.33082868
36	Rimmed vacuoles (HP:0003805)	2.31524666
37	Acute necrotizing encephalopathy (HP:0006965)	2.25825444
38	Areflexia of lower limbs (HP:0002522)	2.21280472
39	Muscle fiber splitting (HP:0003555)	2.19014359
40	Abolished electroretinogram (ERG) (HP:0000550)	2.17931395
41	Attenuation of retinal blood vessels (HP:0007843)	2.16383132
42	True hermaphroditism (HP:0010459)	2.15995863
43	Inability to walk (HP:0002540)	2.14328701
44	Progressive macrocephaly (HP:0004481)	2.12061035
45	Molar tooth sign on MRI (HP:0002419)	2.11432632
46	Abnormality of midbrain morphology (HP:0002418)	2.11432632
47	Absent/shortened dynein arms (HP:0200106)	2.10717611
48	Dynein arm defect of respiratory motile cilia (HP:0012255)	2.10717611
49	Type II lissencephaly (HP:0007260)	2.08504923
50	Hyporeflexia of lower limbs (HP:0002600)	2.06891074
51	Generalized aminoaciduria (HP:0002909)	2.05803774
52	Acute encephalopathy (HP:0006846)	2.02861534
53	Nephronophthisis (HP:0000090)	2.00453196
54	Thyroid-stimulating hormone excess (HP:0002925)	2.00065401
55	Medial flaring of the eyebrow (HP:0010747)	1.99650104
56	Type 2 muscle fiber atrophy (HP:0003554)	1.99036317
57	Febrile seizures (HP:0002373)	1.97015165
58	Abnormal ciliary motility (HP:0012262)	1.96972843
59	Bundle branch block (HP:0011710)	1.96868092
60	Hyperventilation (HP:0002883)	1.96694597
61	Abnormality of the calf musculature (HP:0001430)	1.95390256
62	Tinnitus (HP:0000360)	1.94656229
63	Abnormal drinking behavior (HP:0030082)	1.94630244
64	Polydipsia (HP:0001959)	1.94630244
65	Abnormality of the renal medulla (HP:0100957)	1.93949404
66	Abnormality of lateral ventricle (HP:0030047)	1.93556500
67	Hypoproteinemia (HP:0003075)	1.90423650
68	Abnormal platelet function (HP:0011869)	1.90391838
69	Impaired platelet aggregation (HP:0003540)	1.90391838
70	Abnormal mitochondria in muscle tissue (HP:0008316)	1.87694173
71	Abnormal rod and cone electroretinograms (HP:0008323)	1.87580616
72	Mitochondrial inheritance (HP:0001427)	1.87269439
73	Type 1 muscle fiber predominance (HP:0003803)	1.87135395
74	Hyperkalemia (HP:0002153)	1.82973302
75	Ventricular fibrillation (HP:0001663)	1.82923600
76	Absent rod-and cone-mediated responses on ERG (HP:0007688)	1.79484131
77	Focal motor seizures (HP:0011153)	1.77597106
78	Aplasia/Hypoplasia of the fovea (HP:0008060)	1.77016574
79	Hypoplasia of the fovea (HP:0007750)	1.77016574
80	Hepatic necrosis (HP:0002605)	1.76062930
81	Gaze-evoked nystagmus (HP:0000640)	1.75058952
82	Abnormal respiratory epithelium morphology (HP:0012253)	1.72886832
83	Abnormal respiratory motile cilium morphology (HP:0005938)	1.72886832
84	Fair hair (HP:0002286)	1.71656681
85	Progressive inability to walk (HP:0002505)	1.71196900
86	Congenital sensorineural hearing impairment (HP:0008527)	1.70334976
87	Tongue fasciculations (HP:0001308)	1.69095950
88	Amelogenesis imperfecta (HP:0000705)	1.68244405
89	Rhabdomyolysis (HP:0003201)	1.68047830
90	Abnormality of the neuromuscular junction (HP:0003398)	1.66806229
91	Fatigable weakness (HP:0003473)	1.66806229
92	Increased CSF lactate (HP:0002490)	1.64787895
93	Abnormality of the heme biosynthetic pathway (HP:0010472)	1.64570071
94	Absent phalangeal crease (HP:0006109)	1.64409384
95	Abnormal finger flexion creases (HP:0006143)	1.62528777
96	Keratoconus (HP:0000563)	1.62232937
97	Increased corneal curvature (HP:0100692)	1.62232937
98	Optic nerve hypoplasia (HP:0000609)	1.61718863
99	Lissencephaly (HP:0001339)	1.61247977
100	Abnormality of transition element cation homeostasis (HP:0011030)	1.61093969

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	OBSCN	4.37883179
2	FRK	4.01758679
3	MST4	3.62762681
4	TAOK3	3.32069431
5	PHKG2	3.11345373
6	PHKG1	3.11345373
7	PIK3CG	2.44716848
8	PINK1	2.43861880
9	ADRBK2	2.35203257
10	BMPR1B	2.32204929
11	ACVR1B	2.29788471
12	ZAK	2.26466631
13	MAP4K2	2.10124162
14	PTK2B	2.02073800
15	STK38L	1.70558708
16	MYLK	1.69064874
17	NUAK1	1.64159828
18	TEC	1.58575045
19	TNIK	1.54138965
20	MAPKAPK3	1.53792188
21	STK3	1.47519869
22	GRK5	1.42655027
23	WNK3	1.39728909
24	GRK1	1.39578242
25	DAPK2	1.39157742
26	PLK2	1.34529494
27	TLK1	1.34335112
28	EIF2AK1	1.30185836
29	LATS1	1.24627827
30	BMX	1.17898060
31	RIPK4	1.15309867
32	MAPK13	1.14078114
33	CCNB1	1.10470372
34	TXK	1.07670319
35	BTK	1.04773803
36	ADRBK1	1.04670715
37	SYK	1.04308760
38	MARK3	0.97224528
39	NLK	0.94490001
40	TNK2	0.91357771
41	MAP3K4	0.91162516
42	BRSK2	0.86825701
43	PAK3	0.86374475
44	PKN1	0.82117405
45	FER	0.80127456
46	INSRR	0.79558044
47	MUSK	0.79453206
48	IKBKB	0.78724845
49	PRKAA2	0.77355764
50	OXSR1	0.75821033
51	PRKCE	0.75794931
52	GRK6	0.75193534
53	TRIM28	0.75164704
54	ERBB3	0.73247508
55	VRK1	0.71708171
56	PNCK	0.71253211
57	TRPM7	0.68755008
58	MAPK12	0.66400849
59	MAP2K6	0.64833297
60	PRKG1	0.60987461
61	MAP3K7	0.60294838
62	PLK3	0.58629799
63	WNK4	0.56396054
64	CSF1R	0.56096801
65	CSNK1G1	0.55324735
66	STK39	0.54876872
67	CDK8	0.54842397
68	ILK	0.53447141
69	CAMK2A	0.53182682
70	GRK7	0.52591661
71	CSNK1G3	0.50642483
72	PRKACA	0.49696249
73	PIK3CA	0.48520741
74	MAP2K1	0.46591021
75	EPHA3	0.46403118
76	CSNK1G2	0.45735624
77	PRKCQ	0.45505481
78	MAP2K7	0.45195769
79	FGR	0.45041384
80	MATK	0.44164195
81	LYN	0.44004404
82	BCKDK	0.43098656
83	PRKCG	0.41577014
84	PRKD1	0.40948401
85	BMPR2	0.39855176
86	TIE1	0.37358189
87	HCK	0.36290717
88	CAMK1	0.36274221
89	PLK4	0.36116225
90	PRKACG	0.35617334
91	CASK	0.34997274
92	MARK1	0.34290008
93	SGK2	0.33676213
94	MAP2K4	0.33323556
95	ITK	0.33129948
96	DAPK3	0.32201389
97	PRKCA	0.30632050
98	CSNK1D	0.28719273
99	PRKAA1	0.28229142
100	TTN	0.26494678

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Nitrogen metabolism_Homo sapiens_hsa00910	3.40516250
2	Phototransduction_Homo sapiens_hsa04744	2.80733324
3	Platelet activation_Homo sapiens_hsa04611	2.79586485
4	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	2.46218204
5	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	2.32095611
6	Linoleic acid metabolism_Homo sapiens_hsa00591	2.24994021
7	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	2.16574835
8	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	2.12264713
9	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.06169201
10	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.79824748
11	Arachidonic acid metabolism_Homo sapiens_hsa00590	1.77857816
12	Olfactory transduction_Homo sapiens_hsa04740	1.75868661
13	Serotonergic synapse_Homo sapiens_hsa04726	1.73612390
14	Butanoate metabolism_Homo sapiens_hsa00650	1.65323705
15	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.63567172
16	Oxidative phosphorylation_Homo sapiens_hsa00190	1.62507516
17	Calcium signaling pathway_Homo sapiens_hsa04020	1.58298128
18	Tryptophan metabolism_Homo sapiens_hsa00380	1.57957881
19	Collecting duct acid secretion_Homo sapiens_hsa04966	1.57214729
20	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.49222353
21	Parkinsons disease_Homo sapiens_hsa05012	1.49183566
22	Vascular smooth muscle contraction_Homo sapiens_hsa04270	1.46854014
23	Regulation of autophagy_Homo sapiens_hsa04140	1.46462624
24	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	1.43927976
25	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.41861247
26	Sulfur metabolism_Homo sapiens_hsa00920	1.40966665
27	beta-Alanine metabolism_Homo sapiens_hsa00410	1.37552271
28	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.32683544
29	Cardiac muscle contraction_Homo sapiens_hsa04260	1.32060740
30	Morphine addiction_Homo sapiens_hsa05032	1.30972463
31	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	1.30380071
32	ABC transporters_Homo sapiens_hsa02010	1.24303588
33	Ether lipid metabolism_Homo sapiens_hsa00565	1.23633105
34	Circadian entrainment_Homo sapiens_hsa04713	1.22360003
35	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.20799064
36	Propanoate metabolism_Homo sapiens_hsa00640	1.18826730
37	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.17676499
38	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	1.17475664
39	Sphingolipid metabolism_Homo sapiens_hsa00600	1.15987924
40	Glycerolipid metabolism_Homo sapiens_hsa00561	1.14181313
41	Dilated cardiomyopathy_Homo sapiens_hsa05414	1.10989013
42	Fatty acid elongation_Homo sapiens_hsa00062	1.07885821
43	GABAergic synapse_Homo sapiens_hsa04727	1.06999713
44	Taste transduction_Homo sapiens_hsa04742	1.06356403
45	Nicotine addiction_Homo sapiens_hsa05033	1.06163651
46	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	1.02678944
47	Circadian rhythm_Homo sapiens_hsa04710	1.02336676
48	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.00581620
49	Hematopoietic cell lineage_Homo sapiens_hsa04640	0.96273639
50	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.92837665
51	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.91872214
52	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.91560609
53	Arginine and proline metabolism_Homo sapiens_hsa00330	0.91016649
54	Chemical carcinogenesis_Homo sapiens_hsa05204	0.90837720
55	Caffeine metabolism_Homo sapiens_hsa00232	0.89539214
56	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.88220343
57	Peroxisome_Homo sapiens_hsa04146	0.87138545
58	Renin secretion_Homo sapiens_hsa04924	0.85682332
59	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.84523406
60	Alzheimers disease_Homo sapiens_hsa05010	0.84501961
61	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.84221172
62	Salivary secretion_Homo sapiens_hsa04970	0.83465920
63	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.83204913
64	Long-term depression_Homo sapiens_hsa04730	0.82193130
65	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	0.81462081
66	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.80649879
67	Pancreatic secretion_Homo sapiens_hsa04972	0.79351187
68	Insulin secretion_Homo sapiens_hsa04911	0.77446528
69	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.75409248
70	Fatty acid degradation_Homo sapiens_hsa00071	0.74686068
71	Basal transcription factors_Homo sapiens_hsa03022	0.73289608
72	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.72580584
73	Selenocompound metabolism_Homo sapiens_hsa00450	0.72315469
74	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.70893778
75	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.67783558
76	Homologous recombination_Homo sapiens_hsa03440	0.67002251
77	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.66332541
78	Retinol metabolism_Homo sapiens_hsa00830	0.65359654
79	Purine metabolism_Homo sapiens_hsa00230	0.63721944
80	Glutamatergic synapse_Homo sapiens_hsa04724	0.63485428
81	Primary immunodeficiency_Homo sapiens_hsa05340	0.63003533
82	Gastric acid secretion_Homo sapiens_hsa04971	0.59936288
83	Gap junction_Homo sapiens_hsa04540	0.58473012
84	Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923	0.56802752
85	Glutathione metabolism_Homo sapiens_hsa00480	0.56316264
86	Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750	0.55264665
87	Fanconi anemia pathway_Homo sapiens_hsa03460	0.53576076
88	Huntingtons disease_Homo sapiens_hsa05016	0.52710821
89	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.51515385
90	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.51373798
91	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.50441470
92	Fat digestion and absorption_Homo sapiens_hsa04975	0.49856683
93	One carbon pool by folate_Homo sapiens_hsa00670	0.47910414
94	Glucagon signaling pathway_Homo sapiens_hsa04922	0.46413841
95	Metabolic pathways_Homo sapiens_hsa01100	0.45180758
96	cAMP signaling pathway_Homo sapiens_hsa04024	0.40155206
97	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.39876335
98	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.38825631
99	ECM-receptor interaction_Homo sapiens_hsa04512	0.38471556
100	Dopaminergic synapse_Homo sapiens_hsa04728	0.38356024

METTL21EP

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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