ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	regulation of skeletal muscle contraction (GO:0014819)	5.09584127
2	sarcoplasmic reticulum calcium ion transport (GO:0070296)	4.60817250
3	negative regulation of protein localization to cell surface (GO:2000009)	4.31547664
4	thrombin receptor signaling pathway (GO:0070493)	4.06370720
5	regulation of platelet aggregation (GO:0090330)	3.99930756
6	G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)	3.82931714
7	actin-myosin filament sliding (GO:0033275)	3.79453092
8	muscle filament sliding (GO:0030049)	3.79453092
9	adenosine receptor signaling pathway (GO:0001973)	3.77236890
10	positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)	3.69632677
11	regulation of integrin-mediated signaling pathway (GO:2001044)	3.56361862
12	relaxation of muscle (GO:0090075)	3.49114916
13	regulation of lipoprotein metabolic process (GO:0050746)	3.48084976
14	response to stimulus involved in regulation of muscle adaptation (GO:0014874)	3.42328366
15	regulation of platelet activation (GO:0010543)	3.37425000
16	relaxation of cardiac muscle (GO:0055119)	3.37347101
17	regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	3.28020292
18	negative regulation of heart contraction (GO:0045822)	3.25943113
19	platelet aggregation (GO:0070527)	3.25455005
20	membrane depolarization during cardiac muscle cell action potential (GO:0086012)	3.25277794
21	actin-mediated cell contraction (GO:0070252)	3.21574646
22	negative regulation of dendrite morphogenesis (GO:0050774)	3.20470619
23	regulation of clathrin-mediated endocytosis (GO:2000369)	3.17224183
24	skeletal muscle contraction (GO:0003009)	3.16550963
25	regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	3.16148476
26	negative regulation of norepinephrine secretion (GO:0010700)	3.12589659
27	negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)	3.07541133
28	negative regulation of heart rate (GO:0010459)	3.07088755
29	detection of light stimulus involved in sensory perception (GO:0050962)	3.06975788
30	detection of light stimulus involved in visual perception (GO:0050908)	3.06975788
31	purinergic nucleotide receptor signaling pathway (GO:0035590)	3.06549931
32	negative regulation of muscle contraction (GO:0045932)	3.05808690
33	regulation of T-helper 2 cell differentiation (GO:0045628)	3.04827762
34	phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)	2.94787095
35	neuronal action potential propagation (GO:0019227)	2.94768318
36	negative regulation of macrophage derived foam cell differentiation (GO:0010745)	2.94626314
37	angiogenesis involved in wound healing (GO:0060055)	2.93490863
38	negative regulation of platelet activation (GO:0010544)	2.91869935
39	negative regulation of homotypic cell-cell adhesion (GO:0034111)	2.87454043
40	negative regulation of calcium ion transmembrane transport (GO:1903170)	2.86801805
41	negative regulation of calcium ion transmembrane transporter activity (GO:1901020)	2.86801805
42	negative regulation of phosphoprotein phosphatase activity (GO:0032515)	2.86576597
43	positive regulation of Rho protein signal transduction (GO:0035025)	2.84135356
44	protein localization to microtubule (GO:0035372)	2.81628362
45	response to inactivity (GO:0014854)	2.79181098
46	positive regulation of cAMP-mediated signaling (GO:0043950)	2.79020764
47	regulation of protein localization to cell surface (GO:2000008)	2.78327705
48	positive regulation of muscle hypertrophy (GO:0014742)	2.78296090
49	positive regulation of cardiac muscle hypertrophy (GO:0010613)	2.78296090
50	autophagic vacuole fusion (GO:0000046)	2.78056198
51	long-chain fatty acid biosynthetic process (GO:0042759)	2.77008832
52	regulation of relaxation of muscle (GO:1901077)	2.76560943
53	blood coagulation, intrinsic pathway (GO:0007597)	2.76184386
54	regulation of synapse structural plasticity (GO:0051823)	2.73026246
55	positive regulation of bone resorption (GO:0045780)	2.72455672
56	positive regulation of bone remodeling (GO:0046852)	2.72455672
57	fatty acid elongation (GO:0030497)	2.71306903
58	myotube differentiation (GO:0014902)	2.71088028
59	positive regulation of receptor recycling (GO:0001921)	2.69694739
60	protein neddylation (GO:0045116)	2.69103285
61	regulation of cell communication by electrical coupling (GO:0010649)	2.68992357
62	regulation of calcineurin-NFAT signaling cascade (GO:0070884)	2.68821729
63	negative regulation of blood circulation (GO:1903523)	2.68470973
64	relaxation of smooth muscle (GO:0044557)	2.66323711
65	platelet degranulation (GO:0002576)	2.64308906
66	synaptic vesicle exocytosis (GO:0016079)	2.63984888
67	triglyceride-rich lipoprotein particle remodeling (GO:0034370)	2.63965003
68	termination of G-protein coupled receptor signaling pathway (GO:0038032)	2.61869599
69	negative regulation of potassium ion transmembrane transporter activity (GO:1901017)	2.60003412
70	positive regulation of microtubule polymerization (GO:0031116)	2.59615043
71	regulation of female receptivity (GO:0045924)	2.59356937
72	G-protein coupled purinergic receptor signaling pathway (GO:0035588)	2.58872346
73	synaptic vesicle docking involved in exocytosis (GO:0016081)	2.57618282
74	actin filament-based movement (GO:0030048)	2.57011747
75	regulation of calcium ion transmembrane transport (GO:1903169)	2.56404658
76	regulation of calcium ion transmembrane transporter activity (GO:1901019)	2.56404658
77	neutrophil activation involved in immune response (GO:0002283)	2.56028244
78	nerve growth factor signaling pathway (GO:0038180)	2.55954856
79	regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)	2.54829199
80	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO	2.54629108
81	regulation of receptor recycling (GO:0001919)	2.53951039
82	negative regulation of inclusion body assembly (GO:0090084)	2.53708164
83	striated muscle contraction (GO:0006941)	2.52861207
84	cerebellar granule cell differentiation (GO:0021707)	2.52676748
85	cell communication by electrical coupling involved in cardiac conduction (GO:0086064)	2.51901597
86	tachykinin receptor signaling pathway (GO:0007217)	2.46925249
87	calcium-mediated signaling using intracellular calcium source (GO:0035584)	2.45852755
88	myofibril assembly (GO:0030239)	2.45595781
89	termination of signal transduction (GO:0023021)	2.45035169
90	retinal metabolic process (GO:0042574)	2.44878116
91	leukocyte migration involved in inflammatory response (GO:0002523)	2.44497780
92	purinergic receptor signaling pathway (GO:0035587)	2.42939131
93	beta-amyloid metabolic process (GO:0050435)	2.42489761
94	forebrain neuron development (GO:0021884)	2.41917740
95	fibroblast migration (GO:0010761)	2.41411907
96	tyrosine metabolic process (GO:0006570)	2.40813967
97	Golgi to plasma membrane protein transport (GO:0043001)	2.40716504
98	polyamine biosynthetic process (GO:0006596)	2.40589392
99	platelet activation (GO:0030168)	2.39717320
100	cardiac muscle hypertrophy (GO:0003300)	2.39387738

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	CDX2_19796622_ChIP-Seq_MESCs_Mouse	3.94889643
2	GBX2_23144817_ChIP-Seq_PC3_Human	3.15260932
3	SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	2.73652649
4	ESR1_20079471_ChIP-ChIP_T-47D_Human	2.50719405
5	EZH2_22144423_ChIP-Seq_EOC_Human	2.42834907
6	STAT6_21828071_ChIP-Seq_BEAS2B_Human	2.40607844
7	ZNF217_24962896_ChIP-Seq_MCF-7_Human	2.37633872
8	ESR2_21235772_ChIP-Seq_MCF-7_Human	2.36812628
9	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	2.31233307
10	AR_21572438_ChIP-Seq_LNCaP_Human	2.25288898
11	SMAD_19615063_ChIP-ChIP_OVARY_Human	2.05766348
12	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	2.04602083
13	SCL_19346495_ChIP-Seq_HPC-7_Human	2.01106312
14	GATA1_19941826_ChIP-Seq_K562_Human	1.96305791
15	ESR1_21235772_ChIP-Seq_MCF-7_Human	1.96112639
16	ELK4_26923725_Chip-Seq_MESODERM_Mouse	1.87620556
17	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	1.86907137
18	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	1.80321489
19	GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	1.77281026
20	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.76438979
21	GATA2_19941826_ChIP-Seq_K562_Human	1.71306988
22	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.70775619
23	NRF2_20460467_ChIP-Seq_MEFs_Mouse	1.64007740
24	NFE2L2_20460467_ChIP-Seq_MEFs_Mouse	1.64007740
25	GATA1_19941827_ChIP-Seq_MEL_Mouse	1.59735790
26	GATA2_21666600_ChIP-Seq_HMVEC_Human	1.53264758
27	TCF4_18268006_ChIP-ChIP_LS174T_Human	1.48311801
28	Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse	1.40376682
29	GATA1_22025678_ChIP-Seq_K562_Human	1.39702752
30	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.38435917
31	AHR_22903824_ChIP-Seq_MCF-7_Human	1.34670925
32	FOXP3_17237761_ChIP-ChIP_TREG_Mouse	1.33763143
33	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.30531429
34	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.29153682
35	FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.23699182
36	P53_22387025_ChIP-Seq_ESCs_Mouse	1.23015505
37	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.21715429
38	CTNNB1_20460455_ChIP-Seq_HCT116_Human	1.21186743
39	GATA1_19941827_ChIP-Seq_MEL86_Mouse	1.20185942
40	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.19553630
41	RUNX_20019798_ChIP-Seq_JUKART_Human	1.18962346
42	ER_23166858_ChIP-Seq_MCF-7_Human	1.17116167
43	LMO2_20887958_ChIP-Seq_HPC-7_Mouse	1.15437064
44	ESR1_22446102_ChIP-Seq_UTERUS_Mouse	1.15315704
45	ARNT_22903824_ChIP-Seq_MCF-7_Human	1.15282230
46	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.14964790
47	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.14788739
48	FOXM1_26456572_ChIP-Seq_MCF-7_Human	1.14406160
49	TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse	1.13388650
50	E2F1_18555785_Chip-Seq_ESCs_Mouse	1.13112407
51	MECOM_23826213_ChIP-Seq_KASUMI_Mouse	1.10688791
52	TRIM28_21343339_ChIP-Seq_HEK293_Human	1.10565856
53	AR_21915096_ChIP-Seq_LNCaP-1F5_Human	1.08140486
54	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.07981950
55	EP300_21415370_ChIP-Seq_HL-1_Mouse	1.06294326
56	TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.05396797
57	KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse	1.04897391
58	SMAD4_21799915_ChIP-Seq_A2780_Human	1.04811940
59	RUNX1_27457419_Chip-Seq_LIVER_Mouse	1.01067088
60	ZFP57_27257070_Chip-Seq_ESCs_Mouse	0.99103212
61	NANOG_18555785_Chip-Seq_ESCs_Mouse	0.98507766
62	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	0.96120134
63	CRX_20693478_ChIP-Seq_RETINA_Mouse	0.95603954
64	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	0.95185813
65	NFE2_27457419_Chip-Seq_LIVER_Mouse	0.94848625
66	ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	0.94792934
67	TFAP2C_20629094_ChIP-Seq_MCF-7_Human	0.94574515
68	SOX2_18555785_Chip-Seq_ESCs_Mouse	0.93554559
69	CMYC_18555785_Chip-Seq_ESCs_Mouse	0.93398513
70	MTF2_20144788_ChIP-Seq_MESCs_Mouse	0.93231915
71	PPARG_20176806_ChIP-Seq_3T3-L1_Mouse	0.92345229
72	OCT4_18555785_Chip-Seq_ESCs_Mouse	0.91474915
73	FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human	0.91443342
74	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	0.90844985
75	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	0.90771112
76	STAT3_23295773_ChIP-Seq_U87_Human	0.90366849
77	CEBPB_26923725_Chip-Seq_MESODERM_Mouse	0.89371171
78	CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.89336160
79	OCT4_21477851_ChIP-Seq_ESCs_Mouse	0.89227490
80	CJUN_26792858_Chip-Seq_BT549_Human	0.88957580
81	PU1_27457419_Chip-Seq_LIVER_Mouse	0.88621948
82	NFIB_24661679_ChIP-Seq_LUNG_Mouse	0.88029756
83	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	0.86158245
84	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	0.85144937
85	SOX2_21211035_ChIP-Seq_LN229_Gbm	0.84682130
86	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	0.84308502
87	TCF4_23295773_ChIP-Seq_U87_Human	0.84253633
88	EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse	0.83557335
89	FOXO3_23340844_ChIP-Seq_DLD1_Human	0.83298039
90	SOX9_24532713_ChIP-Seq_HFSC_Mouse	0.82504396
91	SUZ12_20075857_ChIP-Seq_MESCs_Mouse	0.80517632
92	RARB_27405468_Chip-Seq_BRAIN_Mouse	0.80509212
93	NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human	0.80132284
94	PPAR_26484153_Chip-Seq_NCI-H1993_Human	0.79610303
95	PKCTHETA_26484144_Chip-Seq_BREAST_Human	0.78971435
96	SUZ12_18555785_Chip-Seq_ESCs_Mouse	0.78262001
97	MYB_21317192_ChIP-Seq_ERMYB_Mouse	0.77452367
98	GF1_26923725_Chip-Seq_HPCs_Mouse	0.77065969
99	PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human	0.76845482
100	PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse	0.76637146

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0005464_abnormal_platelet_physiology	4.91003400
2	MP0004510_myositis	4.08173121
3	MP0005083_abnormal_biliary_tract	3.77876656
4	MP0004036_abnormal_muscle_relaxation	3.47151839
5	MP0004084_abnormal_cardiac_muscle	3.28728567
6	MP0008004_abnormal_stomach_pH	3.05141539
7	MP0004130_abnormal_muscle_cell	2.92129835
8	MP0005423_abnormal_somatic_nervous	2.77917030
9	MP0000749_muscle_degeneration	2.70712842
10	MP0004145_abnormal_muscle_electrophysio	2.62315711
11	MP0004270_analgesia	2.58628411
12	MP0000751_myopathy	2.42938039
13	MP0005620_abnormal_muscle_contractility	2.17852730
14	MP0002736_abnormal_nociception_after	2.11810925
15	MP0003646_muscle_fatigue	2.09558119
16	MP0005171_absent_coat_pigmentation	2.02523172
17	MP0000465_gastrointestinal_hemorrhage	1.96598345
18	MP0001502_abnormal_circadian_rhythm	1.95328695
19	MP0004215_abnormal_myocardial_fiber	1.91576755
20	MP0002735_abnormal_chemical_nociception	1.89794720
21	MP0000750_abnormal_muscle_regeneration	1.82651352
22	MP0002972_abnormal_cardiac_muscle	1.68669513
23	MP0002106_abnormal_muscle_physiology	1.67104434
24	MP0002822_catalepsy	1.62323880
25	MP0003828_pulmonary_edema	1.60820087
26	MP0008775_abnormal_heart_ventricle	1.58078080
27	MP0001968_abnormal_touch/_nociception	1.56144278
28	MP0002166_altered_tumor_susceptibility	1.55605723
29	MP0004087_abnormal_muscle_fiber	1.55030103
30	MP0004484_altered_response_of	1.53996437
31	MP0003656_abnormal_erythrocyte_physiolo	1.52585643
32	MP0003879_abnormal_hair_cell	1.52243282
33	MP0008872_abnormal_physiological_respon	1.45187124
34	MP0005310_abnormal_salivary_gland	1.42800363
35	MP0003045_fibrosis	1.40990007
36	MP0003724_increased_susceptibility_to	1.39972181
37	MP0004233_abnormal_muscle_weight	1.39425046
38	MP0004859_abnormal_synaptic_plasticity	1.37511371
39	MP0005369_muscle_phenotype	1.37434996
40	MP0005187_abnormal_penis_morphology	1.36471771
41	MP0003638_abnormal_response/metabolism_	1.35893546
42	MP0000230_abnormal_systemic_arterial	1.35737004
43	MP0008961_abnormal_basal_metabolism	1.35667710
44	MP0000747_muscle_weakness	1.34574613
45	MP0002332_abnormal_exercise_endurance	1.32982604
46	MP0005409_darkened_coat_color	1.31151318
47	MP0002127_abnormal_cardiovascular_syste	1.28698383
48	MP0005451_abnormal_body_composition	1.25431744
49	MP0006276_abnormal_autonomic_nervous	1.25431215
50	MP0000759_abnormal_skeletal_muscle	1.24953232
51	MP0004085_abnormal_heartbeat	1.23832792
52	MP0003566_abnormal_cell_adhesion	1.23053689
53	MP0005167_abnormal_blood-brain_barrier	1.21539826
54	MP0009780_abnormal_chondrocyte_physiolo	1.20949584
55	MP0006138_congestive_heart_failure	1.18709996
56	MP0005646_abnormal_pituitary_gland	1.18353249
57	MP0001879_abnormal_lymphatic_vessel	1.12751483
58	MP0002734_abnormal_mechanical_nocicepti	1.11773782
59	MP0001486_abnormal_startle_reflex	1.10938174
60	MP0002009_preneoplasia	1.04423108
61	MP0002063_abnormal_learning/memory/cond	1.01299600
62	MP0005666_abnormal_adipose_tissue	0.99621172
63	MP0010386_abnormal_urinary_bladder	0.94284328
64	MP0004134_abnormal_chest_morphology	0.93323490
65	MP0001661_extended_life_span	0.92802403
66	MP0003011_delayed_dark_adaptation	0.90731569
67	MP0001501_abnormal_sleep_pattern	0.89824257
68	MP0000733_abnormal_muscle_development	0.86984765
69	MP0002006_tumorigenesis	0.85048130
70	MP0001765_abnormal_ion_homeostasis	0.84573364
71	MP0003635_abnormal_synaptic_transmissio	0.84361139
72	MP0005551_abnormal_eye_electrophysiolog	0.83967156
73	MP0002090_abnormal_vision	0.83635227
74	MP0002168_other_aberrant_phenotype	0.83054756
75	MP0004947_skin_inflammation	0.82432192
76	MP0004147_increased_porphyrin_level	0.82283357
77	MP0001544_abnormal_cardiovascular_syste	0.82095210
78	MP0005385_cardiovascular_system_phenoty	0.82095210
79	MP0000249_abnormal_blood_vessel	0.81604630
80	MP0001970_abnormal_pain_threshold	0.79345011
81	MP0003195_calcinosis	0.78319776
82	MP0003880_abnormal_central_pattern	0.77340278
83	MP0000372_irregular_coat_pigmentation	0.76707056
84	MP0001851_eye_inflammation	0.75921873
85	MP0001905_abnormal_dopamine_level	0.75704616
86	MP0003303_peritoneal_inflammation	0.71965192
87	MP0010630_abnormal_cardiac_muscle	0.70052073
88	MP0000343_altered_response_to	0.69698529
89	MP0002272_abnormal_nervous_system	0.67768827
90	MP0002067_abnormal_sensory_capabilities	0.66734583
91	MP0002733_abnormal_thermal_nociception	0.66524744
92	MP0001986_abnormal_taste_sensitivity	0.66088768
93	MP0008569_lethality_at_weaning	0.66058150
94	MP0005670_abnormal_white_adipose	0.65342357
95	MP0008874_decreased_physiological_sensi	0.64063488
96	MP0002572_abnormal_emotion/affect_behav	0.63277200
97	MP0005386_behavior/neurological_phenoty	0.62920025
98	MP0004924_abnormal_behavior	0.62920025
99	MP0002108_abnormal_muscle_morphology	0.62580880
100	MP0003315_abnormal_perineum_morphology	0.61970685

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Nemaline bodies (HP:0003798)	7.07567866
2	Muscle fiber inclusion bodies (HP:0100299)	6.94764527
3	Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)	6.87809775
4	Prolonged bleeding time (HP:0003010)	6.36681943
5	Menorrhagia (HP:0000132)	6.31429360
6	Petechiae (HP:0000967)	6.10539064
7	Increased mean platelet volume (HP:0011877)	5.88062826
8	Abnormal platelet volume (HP:0011876)	5.33508567
9	Purpura (HP:0000979)	4.55423346
10	Type 1 muscle fiber predominance (HP:0003803)	4.46967332
11	Exercise-induced myalgia (HP:0003738)	4.45997156
12	Epistaxis (HP:0000421)	4.27272215
13	Muscle fiber splitting (HP:0003555)	4.16270172
14	Hyporeflexia of lower limbs (HP:0002600)	3.98613829
15	Dyschromatopsia (HP:0007641)	3.97874463
16	Gingival bleeding (HP:0000225)	3.90833710
17	Muscle hypertrophy of the lower extremities (HP:0008968)	3.73355358
18	Calf muscle hypertrophy (HP:0008981)	3.60972745
19	Exercise-induced muscle cramps (HP:0003710)	3.51606054
20	EMG: myopathic abnormalities (HP:0003458)	3.46585778
21	Impaired platelet aggregation (HP:0003540)	3.38362778
22	Abnormal platelet function (HP:0011869)	3.38362778
23	Paralysis (HP:0003470)	3.38318350
24	Frequent falls (HP:0002359)	3.27413573
25	Poikilocytosis (HP:0004447)	3.19579279
26	Distal lower limb amyotrophy (HP:0008944)	2.96550037
27	Hyperlipoproteinemia (HP:0010980)	2.94351886
28	Lower limb amyotrophy (HP:0007210)	2.88643046
29	Distal arthrogryposis (HP:0005684)	2.86228822
30	Rimmed vacuoles (HP:0003805)	2.86178139
31	Centrally nucleated skeletal muscle fibers (HP:0003687)	2.76522233
32	Bundle branch block (HP:0011710)	2.75684507
33	Myopathic facies (HP:0002058)	2.75594201
34	Spontaneous hematomas (HP:0007420)	2.74179519
35	Distal lower limb muscle weakness (HP:0009053)	2.68727305
36	Neck muscle weakness (HP:0000467)	2.65766094
37	Malignant hyperthermia (HP:0002047)	2.61460092
38	Abnormality of skeletal muscle fiber size (HP:0012084)	2.59294516
39	Abnormality of the calf musculature (HP:0001430)	2.46936506
40	Abnormality of the left ventricular outflow tract (HP:0011103)	2.46837517
41	Subaortic stenosis (HP:0001682)	2.46837517
42	Areflexia of lower limbs (HP:0002522)	2.44442629
43	Joint hemorrhage (HP:0005261)	2.38451003
44	Difficulty running (HP:0009046)	2.37307433
45	Dysmetric saccades (HP:0000641)	2.35327502
46	Ankle clonus (HP:0011448)	2.35324157
47	Arthropathy (HP:0003040)	2.32501191
48	Acanthocytosis (HP:0001927)	2.32114369
49	Upper limb muscle weakness (HP:0003484)	2.31825559
50	Focal motor seizures (HP:0011153)	2.30765688
51	Visual hallucinations (HP:0002367)	2.25450321
52	Sudden death (HP:0001699)	2.24932890
53	Febrile seizures (HP:0002373)	2.22607757
54	Ventricular fibrillation (HP:0001663)	2.15258079
55	Progressive cerebellar ataxia (HP:0002073)	2.11979196
56	Fetal akinesia sequence (HP:0001989)	2.11906187
57	EMG: neuropathic changes (HP:0003445)	2.11781691
58	Bruising susceptibility (HP:0000978)	2.11753332
59	Gonadotropin excess (HP:0000837)	2.10102141
60	Decreased number of large peripheral myelinated nerve fibers (HP:0003387)	2.09121273
61	Dysdiadochokinesis (HP:0002075)	2.08420108
62	Increased variability in muscle fiber diameter (HP:0003557)	2.07802128
63	Urinary bladder sphincter dysfunction (HP:0002839)	2.06584222
64	Generalized muscle weakness (HP:0003324)	2.01092718
65	Decreased central vision (HP:0007663)	2.00470010
66	Bulbar palsy (HP:0001283)	1.98559784
67	Back pain (HP:0003418)	1.95114659
68	Diplopia (HP:0000651)	1.95024342
69	Abnormality of binocular vision (HP:0011514)	1.95024342
70	Round ear (HP:0100830)	1.93872855
71	Abnormality of the heme biosynthetic pathway (HP:0010472)	1.92145365
72	Facial diplegia (HP:0001349)	1.91525570
73	Abnormal auditory evoked potentials (HP:0006958)	1.90304196
74	Genetic anticipation (HP:0003743)	1.90024999
75	Abnormality of the common coagulation pathway (HP:0010990)	1.90009133
76	Muscular dystrophy (HP:0003560)	1.88337177
77	Ulnar deviation of the wrist (HP:0003049)	1.87492166
78	Myotonia (HP:0002486)	1.86250670
79	Abnormality of the prostate (HP:0008775)	1.85120217
80	Nonprogressive disorder (HP:0003680)	1.83754507
81	Abnormal finger flexion creases (HP:0006143)	1.83551498
82	Abnormality of lateral ventricle (HP:0030047)	1.81741749
83	Heart block (HP:0012722)	1.80741459
84	Lower limb muscle weakness (HP:0007340)	1.80522992
85	Choroideremia (HP:0001139)	1.80000122
86	Vascular calcification (HP:0004934)	1.77596590
87	Generalized aminoaciduria (HP:0002909)	1.75752686
88	Lip pit (HP:0100267)	1.75441799
89	Hypoplastic iliac wings (HP:0002866)	1.71976512
90	Rapidly progressive (HP:0003678)	1.71548760
91	Calcaneovalgus deformity (HP:0001848)	1.71478499
92	Spastic gait (HP:0002064)	1.71032707
93	Spinal rigidity (HP:0003306)	1.70074864
94	Weak cry (HP:0001612)	1.69964759
95	Rhabdomyolysis (HP:0003201)	1.66890578
96	Abnormal atrioventricular conduction (HP:0005150)	1.66458811
97	Gaze-evoked nystagmus (HP:0000640)	1.66182030
98	Absent phalangeal crease (HP:0006109)	1.65474708
99	Fatigable weakness (HP:0003473)	1.64831861
100	Abnormality of the neuromuscular junction (HP:0003398)	1.64831861

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	OBSCN	5.17968396
2	MST4	3.78782298
3	BRSK2	3.29292234
4	PHKG2	2.82039166
5	PHKG1	2.82039166
6	RIPK4	2.79220040
7	GRK7	2.77617542
8	TRIM28	2.46431561
9	EPHA2	2.40089696
10	SIK3	2.36747708
11	PIK3CG	2.27878606
12	BMX	1.92796550
13	GRK5	1.91950802
14	CAMK1G	1.83732493
15	PTK2B	1.81280575
16	SIK1	1.65948131
17	MYLK	1.64622698
18	TTN	1.61561978
19	AKT3	1.51716440
20	STK24	1.47693961
21	BTK	1.38594452
22	BRSK1	1.36897416
23	TLK1	1.32659924
24	PAK3	1.30804873
25	SGK2	1.27854427
26	MAP3K3	1.22884212
27	CAMK1D	1.20560969
28	GRK1	1.20035759
29	MARK1	1.18771922
30	MAPK12	1.12361936
31	LATS2	1.12279101
32	SYK	1.11823564
33	TEC	1.07992003
34	MAP2K3	1.07353789
35	PNCK	1.05061243
36	DAPK2	1.02161494
37	MAP3K7	0.97309775
38	TAOK3	0.92340896
39	ADRBK1	0.89237051
40	MINK1	0.89012163
41	TAOK2	0.85213157
42	MAPKAPK3	0.84471132
43	CSF1R	0.82440106
44	SGK3	0.81966792
45	NTRK1	0.80504280
46	LMTK2	0.79463059
47	PLK2	0.79457551
48	PRKD1	0.79307978
49	MAPK13	0.78179726
50	IKBKB	0.77427168
51	PRKAA1	0.75105489
52	HCK	0.74122011
53	PKN1	0.70229575
54	SGK494	0.70185200
55	SGK223	0.70185200
56	RIPK1	0.69590327
57	WEE1	0.69464957
58	TNK2	0.68357538
59	STK38	0.67799039
60	CCNB1	0.67327664
61	MUSK	0.63448310
62	CAMKK2	0.63408712
63	CAMK2G	0.60296014
64	PDK1	0.60216782
65	BCR	0.59992553
66	PDPK1	0.58388228
67	CSNK1A1L	0.58162947
68	BLK	0.55380706
69	PRKAA2	0.54616834
70	MAP3K9	0.54233604
71	CAMK1	0.52245911
72	MAP2K1	0.51683273
73	MARK2	0.51552853
74	PAK1	0.51473273
75	DMPK	0.51007405
76	STK38L	0.49462110
77	PRKACG	0.48724268
78	MAPK7	0.48237519
79	CAMK2B	0.47992445
80	CAMK2D	0.47214623
81	BMPR2	0.45562997
82	DAPK3	0.45538059
83	PIK3CA	0.45520954
84	ROCK1	0.44810656
85	ERBB2	0.41539036
86	MAP3K5	0.40471961
87	PRKG1	0.40291364
88	CSNK1D	0.40174745
89	ILK	0.37578786
90	GRK6	0.36738745
91	FER	0.35847449
92	CAMK4	0.35839078
93	ZAP70	0.34466397
94	CSNK1G3	0.33741880
95	CAMK2A	0.33642424
96	WNK1	0.32926357
97	PINK1	0.32784253
98	PRKACA	0.32640368
99	STK3	0.32432223
100	PRKD3	0.32251346

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Platelet activation_Homo sapiens_hsa04611	2.81368671
2	Circadian rhythm_Homo sapiens_hsa04710	2.26714882
3	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	1.78668612
4	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	1.78478360
5	Systemic lupus erythematosus_Homo sapiens_hsa05322	1.67727378
6	Dilated cardiomyopathy_Homo sapiens_hsa05414	1.67435862
7	Bacterial invasion of epithelial cells_Homo sapiens_hsa05100	1.61078627
8	Circadian entrainment_Homo sapiens_hsa04713	1.59259394
9	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.57965179
10	Alcoholism_Homo sapiens_hsa05034	1.55973149
11	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.54256104
12	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	1.42676747
13	Gap junction_Homo sapiens_hsa04540	1.41833633
14	Calcium signaling pathway_Homo sapiens_hsa04020	1.41187171
15	Gastric acid secretion_Homo sapiens_hsa04971	1.37138850
16	Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923	1.35395627
17	ECM-receptor interaction_Homo sapiens_hsa04512	1.33296844
18	Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750	1.32782660
19	Nitrogen metabolism_Homo sapiens_hsa00910	1.30710820
20	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	1.29885680
21	Renin secretion_Homo sapiens_hsa04924	1.28389607
22	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	1.28075078
23	Vascular smooth muscle contraction_Homo sapiens_hsa04270	1.25290033
24	Oxytocin signaling pathway_Homo sapiens_hsa04921	1.24602240
25	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	1.24224566
26	Choline metabolism in cancer_Homo sapiens_hsa05231	1.23036570
27	Long-term potentiation_Homo sapiens_hsa04720	1.22006153
28	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	1.21111346
29	Salivary secretion_Homo sapiens_hsa04970	1.19316762
30	Glioma_Homo sapiens_hsa05214	1.17108572
31	Amphetamine addiction_Homo sapiens_hsa05031	1.16095195
32	Olfactory transduction_Homo sapiens_hsa04740	1.15662586
33	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	1.14129999
34	Endometrial cancer_Homo sapiens_hsa05213	1.14102276
35	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	1.13543803
36	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	1.13393504
37	Cholinergic synapse_Homo sapiens_hsa04725	1.12611185
38	B cell receptor signaling pathway_Homo sapiens_hsa04662	1.11581712
39	Insulin signaling pathway_Homo sapiens_hsa04910	1.11254983
40	AMPK signaling pathway_Homo sapiens_hsa04152	1.10039195
41	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	1.07585920
42	Endocytosis_Homo sapiens_hsa04144	1.07287489
43	Regulation of actin cytoskeleton_Homo sapiens_hsa04810	1.05702304
44	Synaptic vesicle cycle_Homo sapiens_hsa04721	1.04252643
45	Leukocyte transendothelial migration_Homo sapiens_hsa04670	1.01064656
46	Phospholipase D signaling pathway_Homo sapiens_hsa04072	1.00311794
47	Glucagon signaling pathway_Homo sapiens_hsa04922	0.99105848
48	Insulin resistance_Homo sapiens_hsa04931	0.98963452
49	Thyroid hormone signaling pathway_Homo sapiens_hsa04919	0.97591722
50	Pancreatic secretion_Homo sapiens_hsa04972	0.96235389
51	Serotonergic synapse_Homo sapiens_hsa04726	0.95880817
52	Hematopoietic cell lineage_Homo sapiens_hsa04640	0.94573499
53	Renal cell carcinoma_Homo sapiens_hsa05211	0.92639151
54	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	0.91173419
55	Longevity regulating pathway - multiple species_Homo sapiens_hsa04213	0.91156197
56	cAMP signaling pathway_Homo sapiens_hsa04024	0.89984745
57	Dopaminergic synapse_Homo sapiens_hsa04728	0.87753396
58	Long-term depression_Homo sapiens_hsa04730	0.85921627
59	Phototransduction_Homo sapiens_hsa04744	0.85157189
60	mTOR signaling pathway_Homo sapiens_hsa04150	0.83858929
61	Rap1 signaling pathway_Homo sapiens_hsa04015	0.83222413
62	Chemokine signaling pathway_Homo sapiens_hsa04062	0.81502895
63	Caffeine metabolism_Homo sapiens_hsa00232	0.81426170
64	GnRH signaling pathway_Homo sapiens_hsa04912	0.80973391
65	Focal adhesion_Homo sapiens_hsa04510	0.80447927
66	Insulin secretion_Homo sapiens_hsa04911	0.79786750
67	Morphine addiction_Homo sapiens_hsa05032	0.79274392
68	Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666	0.77513148
69	Neurotrophin signaling pathway_Homo sapiens_hsa04722	0.77102797
70	Estrogen signaling pathway_Homo sapiens_hsa04915	0.76355093
71	Type II diabetes mellitus_Homo sapiens_hsa04930	0.75259567
72	ErbB signaling pathway_Homo sapiens_hsa04012	0.72283445
73	GABAergic synapse_Homo sapiens_hsa04727	0.71632442
74	Transcriptional misregulation in cancer_Homo sapiens_hsa05202	0.69798633
75	Non-small cell lung cancer_Homo sapiens_hsa05223	0.68856827
76	Adherens junction_Homo sapiens_hsa04520	0.64412553
77	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.64237665
78	Inositol phosphate metabolism_Homo sapiens_hsa00562	0.63557816
79	Glutamatergic synapse_Homo sapiens_hsa04724	0.63284609
80	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.62241716
81	Longevity regulating pathway - mammal_Homo sapiens_hsa04211	0.62131612
82	VEGF signaling pathway_Homo sapiens_hsa04370	0.61038016
83	Tight junction_Homo sapiens_hsa04530	0.60995071
84	T cell receptor signaling pathway_Homo sapiens_hsa04660	0.60864613
85	Sphingolipid signaling pathway_Homo sapiens_hsa04071	0.58396357
86	FoxO signaling pathway_Homo sapiens_hsa04068	0.58276151
87	Prostate cancer_Homo sapiens_hsa05215	0.57696393
88	MAPK signaling pathway_Homo sapiens_hsa04010	0.56195897
89	Carbohydrate digestion and absorption_Homo sapiens_hsa04973	0.54684182
90	Regulation of autophagy_Homo sapiens_hsa04140	0.54397426
91	Fc epsilon RI signaling pathway_Homo sapiens_hsa04664	0.54225314
92	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.54173485
93	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.53655514
94	Ras signaling pathway_Homo sapiens_hsa04014	0.53276220
95	Bile secretion_Homo sapiens_hsa04976	0.51995290
96	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.50138580
97	Toll-like receptor signaling pathway_Homo sapiens_hsa04620	0.49309042
98	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.48939277
99	Adipocytokine signaling pathway_Homo sapiens_hsa04920	0.48697569
100	ABC transporters_Homo sapiens_hsa02010	0.46062085

BUD13P1

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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