ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	response to muscle activity (GO:0014850)	4.98723209
2	cellular response to zinc ion (GO:0071294)	4.57152181
3	barbed-end actin filament capping (GO:0051016)	4.29722679
4	regulation of oxidative phosphorylation (GO:0002082)	4.27781912
5	regulation of oxidative stress-induced neuron death (GO:1903203)	4.18523528
6	positive regulation of synaptic transmission, dopaminergic (GO:0032226)	4.03530427
7	negative regulation of hydrogen peroxide-induced cell death (GO:1903206)	4.03300464
8	regulation of autophagic vacuole assembly (GO:2000785)	3.86054591
9	coenzyme catabolic process (GO:0009109)	3.81782694
10	negative regulation of response to reactive oxygen species (GO:1901032)	3.67071958
11	cellular response to cadmium ion (GO:0071276)	3.60723725
12	activation of protein kinase B activity (GO:0032148)	3.56332026
13	regulation of hydrogen peroxide-induced cell death (GO:1903205)	3.56330370
14	positive regulation of catecholamine secretion (GO:0033605)	3.52351127
15	response to peptidoglycan (GO:0032494)	3.46081635
16	regulation of vacuole organization (GO:0044088)	3.32249363
17	muscle cell cellular homeostasis (GO:0046716)	3.28729699
18	regulation of type B pancreatic cell apoptotic process (GO:2000674)	3.20299004
19	AMP metabolic process (GO:0046033)	3.19911407
20	ADP metabolic process (GO:0046031)	3.15182506
21	protein localization to endosome (GO:0036010)	3.13995560
22	regulation of mononuclear cell migration (GO:0071675)	3.03908929
23	regulation of membrane protein ectodomain proteolysis (GO:0051043)	3.03642774
24	cofactor catabolic process (GO:0051187)	3.01248033
25	virion attachment to host cell (GO:0019062)	2.96178704
26	adhesion of symbiont to host cell (GO:0044650)	2.96178704
27	hyaluronan catabolic process (GO:0030214)	2.95552424
28	negative regulation of homotypic cell-cell adhesion (GO:0034111)	2.93605042
29	adhesion of symbiont to host (GO:0044406)	2.92095183
30	lipopolysaccharide-mediated signaling pathway (GO:0031663)	2.89933031
31	regulation of phosphoprotein phosphatase activity (GO:0043666)	2.81048414
32	negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)	2.80612880
33	cellular response to arsenic-containing substance (GO:0071243)	2.80356091
34	positive regulation of chemokine biosynthetic process (GO:0045080)	2.79212080
35	regulation of toll-like receptor 4 signaling pathway (GO:0034143)	2.78674184
36	oligosaccharide catabolic process (GO:0009313)	2.74838293
37	pinocytosis (GO:0006907)	2.71502288
38	membrane raft organization (GO:0031579)	2.71092308
39	eosinophil chemotaxis (GO:0048245)	2.67797938
40	negative regulation of cardiac muscle cell apoptotic process (GO:0010667)	2.67214235
41	xenobiotic catabolic process (GO:0042178)	2.63130323
42	low-density lipoprotein particle clearance (GO:0034383)	2.60395627
43	androgen biosynthetic process (GO:0006702)	2.59612355
44	cell adhesion mediated by integrin (GO:0033627)	2.58936304
45	negative regulation of platelet activation (GO:0010544)	2.58685558
46	cellular response to thyroid hormone stimulus (GO:0097067)	2.57165991
47	regulation of phospholipase A2 activity (GO:0032429)	2.56902750
48	regulation of vitamin D biosynthetic process (GO:0060556)	2.55464579
49	negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	2.55189258
50	negative regulation of defense response to virus (GO:0050687)	2.49388674
51	positive regulation of membrane protein ectodomain proteolysis (GO:0051044)	2.48825472
52	positive regulation of macrophage differentiation (GO:0045651)	2.48736587
53	regulation of chemokine biosynthetic process (GO:0045073)	2.48270835
54	negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)	2.47166579
55	glycogen metabolic process (GO:0005977)	2.46259574
56	response to thyroid hormone (GO:0097066)	2.44995257
57	negative regulation of smooth muscle cell proliferation (GO:0048662)	2.44329562
58	glucan metabolic process (GO:0044042)	2.40653903
59	cellular glucan metabolic process (GO:0006073)	2.40653903
60	cellular zinc ion homeostasis (GO:0006882)	2.39858617
61	regulation of early endosome to late endosome transport (GO:2000641)	2.38283830
62	TOR signaling (GO:0031929)	2.35140110
63	potassium ion export (GO:0071435)	2.33648527
64	mannose metabolic process (GO:0006013)	2.33420791
65	regulation of protein sumoylation (GO:0033233)	2.31965927
66	response to acidic pH (GO:0010447)	2.31289743
67	eosinophil migration (GO:0072677)	2.31269751
68	cortical actin cytoskeleton organization (GO:0030866)	2.30825039
69	positive regulation of toll-like receptor signaling pathway (GO:0034123)	2.30324525
70	endoplasmic reticulum calcium ion homeostasis (GO:0032469)	2.29569861
71	glycosphingolipid catabolic process (GO:0046479)	2.28512171
72	cellular response to toxic substance (GO:0097237)	2.27549113
73	positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)	2.26463084
74	positive regulation of extracellular matrix organization (GO:1903055)	2.26122149
75	regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition	2.25982019
76	pyrimidine nucleoside salvage (GO:0043097)	2.25214782
77	pyrimidine-containing compound salvage (GO:0008655)	2.25214782
78	muscle filament sliding (GO:0030049)	2.24626195
79	actin-myosin filament sliding (GO:0033275)	2.24626195
80	response to activity (GO:0014823)	2.24250718
81	regulation of protein kinase C signaling (GO:0090036)	2.24076262
82	positive regulation of interleukin-6 production (GO:0032755)	2.23194716
83	nucleoside diphosphate biosynthetic process (GO:0009133)	2.22253356
84	positive regulation of natural killer cell differentiation (GO:0032825)	2.21592004
85	cell volume homeostasis (GO:0006884)	2.20901636
86	negative regulation of inflammatory response to antigenic stimulus (GO:0002862)	2.20861702
87	negative regulation of interleukin-12 production (GO:0032695)	2.20505047
88	cellular response to interferon-alpha (GO:0035457)	2.19454446
89	neutrophil activation involved in immune response (GO:0002283)	2.19426264
90	relaxation of smooth muscle (GO:0044557)	2.17982000
91	actin-mediated cell contraction (GO:0070252)	2.17811152
92	immunoglobulin mediated immune response (GO:0016064)	2.17588005
93	positive regulation of glycolytic process (GO:0045821)	2.17290652
94	negative regulation of oxidative stress-induced cell death (GO:1903202)	2.16576043
95	regulation of podosome assembly (GO:0071801)	2.16511837
96	myofibril assembly (GO:0030239)	2.15735545
97	regulation of myoblast differentiation (GO:0045661)	2.15565354
98	amino sugar catabolic process (GO:0046348)	2.15456568
99	regulation of macrophage chemotaxis (GO:0010758)	2.15033184
100	fructose metabolic process (GO:0006000)	2.13185572

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	BP1_19119308_ChIP-ChIP_Hs578T_Human	6.19339083
2	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	5.70681704
3	IRF8_22096565_ChIP-ChIP_GC-B_Human	3.70024849
4	ESR1_20079471_ChIP-ChIP_T-47D_Human	2.82613418
5	TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse	2.61385614
6	RARG_19884340_ChIP-ChIP_MEFs_Mouse	2.56980755
7	Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse	2.44310829
8	NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human	2.40815458
9	ESR1_17901129_ChIP-ChIP_LIVER_Mouse	2.37951317
10	GATA2_21666600_ChIP-Seq_HMVEC_Human	2.31614554
11	TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse	2.28795500
12	SMAD_19615063_ChIP-ChIP_OVARY_Human	2.23656375
13	IRF8_21731497_ChIP-ChIP_J774_Mouse	2.20856832
14	RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human	2.14578846
15	IRF1_21803131_ChIP-Seq_MONOCYTES_Human	2.14547806
16	TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	2.12291735
17	NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse	2.08364888
18	RXR_22158963_ChIP-Seq_LIVER_Mouse	1.93912661
19	ESR2_21235772_ChIP-Seq_MCF-7_Human	1.93104838
20	SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse	1.87527783
21	ZNF263_19887448_ChIP-Seq_K562_Human	1.81127500
22	NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse	1.79697697
23	VDR_24787735_ChIP-Seq_THP-1_Human	1.77513406
24	CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse	1.69695253
25	LXR_22158963_ChIP-Seq_LIVER_Mouse	1.68530175
26	IRF8_27001747_Chip-Seq_BMDM_Mouse	1.68351699
27	MYB_21317192_ChIP-Seq_ERMYB_Mouse	1.62028990
28	FOXP3_17237761_ChIP-ChIP_TREG_Mouse	1.61092772
29	SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human	1.59057579
30	CJUN_26792858_Chip-Seq_BT549_Human	1.58081598
31	ELK3_25401928_ChIP-Seq_HUVEC_Human	1.57271436
32	TRIM28_21343339_ChIP-Seq_HEK293_Human	1.56551045
33	FOXO1_23066095_ChIP-Seq_LIVER_Mouse	1.47729931
34	JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	1.45264242
35	SMAD3_18955504_ChIP-ChIP_HaCaT_Human	1.45129949
36	SMAD2_18955504_ChIP-ChIP_HaCaT_Human	1.45129949
37	RUNX2_24764292_ChIP-Seq_MC3T3_Mouse	1.44104881
38	STAT4_19710469_ChIP-ChIP_TH1__Mouse	1.43253417
39	JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	1.42966356
40	TFEB_21752829_ChIP-Seq_HELA_Human	1.42873641
41	PPARA_22158963_ChIP-Seq_LIVER_Mouse	1.42759888
42	SPI1_23127762_ChIP-Seq_K562_Human	1.42583873
43	BRD4_25478319_ChIP-Seq_HGPS_Human	1.37286392
44	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.36035775
45	SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse	1.35811960
46	SOX2_20726797_ChIP-Seq_SW620_Human	1.34405417
47	KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human	1.32260113
48	PPARG_19300518_ChIP-PET_3T3-L1_Mouse	1.32046632
49	VDR_24763502_ChIP-Seq_THP-1_Human	1.29909711
50	LXR_22292898_ChIP-Seq_THP-1_Human	1.27944008
51	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	1.27506470
52	RUNX1_20887958_ChIP-Seq_HPC-7_Mouse	1.26923569
53	CLOCK_20551151_ChIP-Seq_293T_Human	1.25713832
54	EGR1_19374776_ChIP-ChIP_THP-1_Human	1.22440752
55	TBX20_22328084_ChIP-Seq_HEART_Mouse	1.22125705
56	TBX20_22080862_ChIP-Seq_HEART_Mouse	1.22125705
57	ATF3_23680149_ChIP-Seq_GBM1-GSC_Human	1.20313545
58	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	1.19342726
59	PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse	1.15231422
60	ATF3_27146783_Chip-Seq_COLON_Human	1.15205377
61	SMAD4_19686287_ChIP-ChIP_HaCaT_Human	1.14353022
62	ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.13420145
63	LMO2_20887958_ChIP-Seq_HPC-7_Mouse	1.12735240
64	THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse	1.10199289
65	MECOM_23826213_ChIP-Seq_KASUMI_Mouse	1.09618661
66	PPAR_26484153_Chip-Seq_NCI-H1993_Human	1.09583884
67	ESR1_21235772_ChIP-Seq_MCF-7_Human	1.09093874
68	VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human	1.08515934
69	TP63_17297297_ChIP-ChIP_HaCaT_Human	1.07694431
70	CDX2_19796622_ChIP-Seq_MESCs_Mouse	1.07214845
71	GATA1_22025678_ChIP-Seq_K562_Human	1.06860410
72	RACK7_27058665_Chip-Seq_MCF-7_Human	1.05507567
73	MEF2A_21415370_ChIP-Seq_HL-1_Mouse	1.03061285
74	PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse	1.01375473
75	KDM2B_26808549_Chip-Seq_SUP-B15_Human	0.99014376
76	BRD4_27068464_Chip-Seq_AML-cells_Mouse	0.98462370
77	UBF1/2_26484160_Chip-Seq_HMECs_Human	0.98456338
78	SALL4_18804426_ChIP-ChIP_XEN_Mouse	0.97490051
79	PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse	0.96487944
80	STAT1_20625510_ChIP-Seq_HELA_Human	0.96336681
81	HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse	0.96232038
82	CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse	0.94606723
83	TFAP2C_20629094_ChIP-Seq_MCF-7_Human	0.93734884
84	ESR1_22446102_ChIP-Seq_UTERUS_Mouse	0.93733552
85	NRF2_20460467_ChIP-Seq_MEFs_Mouse	0.93528969
86	NFE2L2_20460467_ChIP-Seq_MEFs_Mouse	0.93528969
87	STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse	0.92990855
88	EP300_21415370_ChIP-Seq_HL-1_Mouse	0.92036944
89	IRF8_22096565_ChIP-ChIP_GC-B_Mouse	0.90619424
90	NKX2-5_21415370_ChIP-Seq_HL-1_Mouse	0.90608116
91	SPI1_23547873_ChIP-Seq_NB4_Human	0.90120955
92	PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse	0.90051690
93	STAT3_20064451_ChIP-Seq_CD4+T_Mouse	0.89588743
94	KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human	0.89034947
95	NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human	0.87998552
96	P300_27058665_Chip-Seq_ZR-75-30cells_Human	0.87750774
97	STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse	0.87706772
98	ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human	0.87634957
99	TP53_22127205_ChIP-Seq_IMR90_Human	0.87133720
100	CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse	0.85182726

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0005058_abnormal_lysosome_morphology	4.44279315
2	MP0009840_abnormal_foam_cell	4.43284349
3	MP0003806_abnormal_nucleotide_metabolis	4.15650357
4	MP0008004_abnormal_stomach_pH	2.75707110
5	MP0002139_abnormal_hepatobiliary_system	2.67929690
6	MP0000749_muscle_degeneration	2.64971759
7	MP0004510_myositis	2.60197612
8	MP0002837_dystrophic_cardiac_calcinosis	2.52127787
9	MP0009697_abnormal_copulation	2.27536902
10	MP0004084_abnormal_cardiac_muscle	2.24726274
11	MP0000343_altered_response_to	2.19399156
12	MP0005451_abnormal_body_composition	2.19259070
13	MP0010368_abnormal_lymphatic_system	2.16938133
14	MP0008438_abnormal_cutaneous_collagen	2.12670995
15	MP0004272_abnormal_basement_membrane	2.06409296
16	MP0003950_abnormal_plasma_membrane	2.05642617
17	MP0003172_abnormal_lysosome_physiology	2.00702255
18	MP0003075_altered_response_to	1.99762707
19	MP0002148_abnormal_hypersensitivity_rea	1.96153620
20	MP0006082_CNS_inflammation	1.93677200
21	MP0005360_urolithiasis	1.89383289
22	MP0004036_abnormal_muscle_relaxation	1.88968791
23	MP0010234_abnormal_vibrissa_follicle	1.87642551
24	MP0002138_abnormal_hepatobiliary_system	1.77057743
25	MP0003828_pulmonary_edema	1.75072798
26	MP0009785_altered_susceptibility_to	1.70956516
27	MP0003191_abnormal_cellular_cholesterol	1.66579419
28	MP0005166_decreased_susceptibility_to	1.60778404
29	MP0003868_abnormal_feces_composition	1.56923056
30	MP0002998_abnormal_bone_remodeling	1.56763420
31	MP0001835_abnormal_antigen_presentation	1.46954563
32	MP0003091_abnormal_cell_migration	1.45051141
33	MP0005330_cardiomyopathy	1.42694388
34	MP0002877_abnormal_melanocyte_morpholog	1.38510684
35	MP0005410_abnormal_fertilization	1.36873269
36	MP0009780_abnormal_chondrocyte_physiolo	1.36532264
37	MP0004233_abnormal_muscle_weight	1.36418954
38	MP0002132_abnormal_respiratory_system	1.35443042
39	MP0001849_ear_inflammation	1.34866134
40	MP0005165_increased_susceptibility_to	1.33364551
41	MP0003303_peritoneal_inflammation	1.32941434
42	MP0003300_gastrointestinal_ulcer	1.32029073
43	MP0002332_abnormal_exercise_endurance	1.31128752
44	MP0003436_decreased_susceptibility_to	1.28531331
45	MP0002419_abnormal_innate_immunity	1.27499106
46	MP0010386_abnormal_urinary_bladder	1.23732105
47	MP0005164_abnormal_response_to	1.21067700
48	MP0002269_muscular_atrophy	1.19634469
49	MP0000604_amyloidosis	1.16386561
50	MP0000759_abnormal_skeletal_muscle	1.13848080
51	MP0005464_abnormal_platelet_physiology	1.13357461
52	MP0003195_calcinosis	1.10626507
53	MP0003453_abnormal_keratinocyte_physiol	1.10545614
54	MP0001661_extended_life_span	1.09578429
55	MP0000747_muscle_weakness	1.05575466
56	MP0003724_increased_susceptibility_to	1.04646651
57	MP0008469_abnormal_protein_level	1.03882056
58	MP0005025_abnormal_response_to	1.03166726
59	MP0001533_abnormal_skeleton_physiology	1.00968526
60	MP0005167_abnormal_blood-brain_barrier	1.00721120
61	MP0003705_abnormal_hypodermis_morpholog	0.99684968
62	MP0005023_abnormal_wound_healing	0.98431781
63	MP0001845_abnormal_inflammatory_respons	0.94922333
64	MP0003879_abnormal_hair_cell	0.94775093
65	MP0005319_abnormal_enzyme/_coenzyme	0.94407543
66	MP0005000_abnormal_immune_tolerance	0.94134548
67	MP0002295_abnormal_pulmonary_circulatio	0.92329403
68	MP0004087_abnormal_muscle_fiber	0.92282655
69	MP0005595_abnormal_vascular_smooth	0.91717516
70	MP0006036_abnormal_mitochondrial_physio	0.89652486
71	MP0003656_abnormal_erythrocyte_physiolo	0.88880622
72	MP0006054_spinal_hemorrhage	0.88801403
73	MP0005387_immune_system_phenotype	0.88408075
74	MP0001790_abnormal_immune_system	0.88408075
75	MP0005620_abnormal_muscle_contractility	0.87291962
76	MP0002876_abnormal_thyroid_physiology	0.86612239
77	MP0002254_reproductive_system_inflammat	0.86571767
78	MP0005365_abnormal_bile_salt	0.85571602
79	MP0009764_decreased_sensitivity_to	0.85518558
80	MP0005257_abnormal_intraocular_pressure	0.85214773
81	MP0000920_abnormal_myelination	0.84848529
82	MP0001853_heart_inflammation	0.83029452
83	MP0001542_abnormal_bone_strength	0.80262289
84	MP0003566_abnormal_cell_adhesion	0.80075779
85	MP0002127_abnormal_cardiovascular_syste	0.78238287
86	MP0003795_abnormal_bone_structure	0.77489455
87	MP0003279_aneurysm	0.76865777
88	MP0000751_myopathy	0.76821778
89	MP0005647_abnormal_sex_gland	0.76538280
90	MP0000767_abnormal_smooth_muscle	0.74952541
91	MP0003186_abnormal_redox_activity	0.73907745
92	MP0000013_abnormal_adipose_tissue	0.73373403
93	MP0002972_abnormal_cardiac_muscle	0.72154763
94	MP0000733_abnormal_muscle_development	0.71758324
95	MP0004947_skin_inflammation	0.71157118
96	MP0000681_abnormal_thyroid_gland	0.70195312
97	MP0003448_altered_tumor_morphology	0.69490702
98	MP0002896_abnormal_bone_mineralization	0.69281060
99	MP0002160_abnormal_reproductive_system	0.69012222
100	MP0005397_hematopoietic_system_phenotyp	0.66962078

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Abnormality of liposaccharide metabolism (HP:0010968)	5.35568109
2	Abnormality of glycosphingolipid metabolism (HP:0004343)	5.35568109
3	Abnormality of glycolipid metabolism (HP:0010969)	5.35568109
4	Nuclear cataract (HP:0100018)	4.06022038
5	Hyporeflexia of lower limbs (HP:0002600)	3.70579262
6	Spinal rigidity (HP:0003306)	3.63298453
7	Centrally nucleated skeletal muscle fibers (HP:0003687)	3.51795750
8	Vacuolated lymphocytes (HP:0001922)	3.48914788
9	Exercise-induced myalgia (HP:0003738)	3.38304552
10	EMG: myopathic abnormalities (HP:0003458)	3.26660159
11	Dysostosis multiplex (HP:0000943)	3.17568674
12	Clumsiness (HP:0002312)	3.17356249
13	Axonal loss (HP:0003447)	3.16612917
14	Resting tremor (HP:0002322)	3.09400373
15	Scapular winging (HP:0003691)	3.06567380
16	Reduced antithrombin III activity (HP:0001976)	2.99478386
17	Diaphragmatic weakness (HP:0009113)	2.97052235
18	Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)	2.86224546
19	Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)	2.85729027
20	Increased variability in muscle fiber diameter (HP:0003557)	2.78218335
21	Abnormality of the shoulder girdle musculature (HP:0001435)	2.77091596
22	Aplasia/Hypoplasia involving the sinuses (HP:0009120)	2.76926949
23	Muscle fiber inclusion bodies (HP:0100299)	2.76406455
24	Systemic lupus erythematosus (HP:0002725)	2.74262844
25	Abnormality of the calf musculature (HP:0001430)	2.68368813
26	Hematochezia (HP:0002573)	2.67608416
27	Abnormality of skeletal muscle fiber size (HP:0012084)	2.61946861
28	Premature rupture of membranes (HP:0001788)	2.61004000
29	Mitral stenosis (HP:0001718)	2.58300758
30	Bulbar palsy (HP:0001283)	2.47905490
31	Ventricular fibrillation (HP:0001663)	2.47664337
32	Neck muscle weakness (HP:0000467)	2.46250637
33	Myoglobinuria (HP:0002913)	2.41797259
34	Abnormality of mucopolysaccharide metabolism (HP:0011020)	2.41737018
35	Abnormality of polysaccharide metabolism (HP:0011012)	2.41737018
36	Abnormality of glycosaminoglycan metabolism (HP:0004371)	2.41737018
37	Sensory axonal neuropathy (HP:0003390)	2.39157606
38	Abnormality of the frontal sinuses (HP:0002687)	2.39111136
39	Aortic aneurysm (HP:0004942)	2.38093359
40	Increased cerebral lipofuscin (HP:0011813)	2.34711124
41	Loss of speech (HP:0002371)	2.33433943
42	Thoracic kyphosis (HP:0002942)	2.30720741
43	Urinary glycosaminoglycan excretion (HP:0003541)	2.29343024
44	Mucopolysacchariduria (HP:0008155)	2.29343024
45	Xanthomatosis (HP:0000991)	2.27435281
46	Glomerulonephritis (HP:0000099)	2.26901306
47	Rimmed vacuoles (HP:0003805)	2.21872043
48	Increased serum ferritin (HP:0003281)	2.21844393
49	Type 1 muscle fiber predominance (HP:0003803)	2.18789715
50	Abnormality of macrophages (HP:0004311)	2.17471900
51	Myocardial infarction (HP:0001658)	2.16351125
52	Disinhibition (HP:0000734)	2.13546833
53	Osteolytic defects of the hand bones (HP:0009699)	2.13392219
54	Osteolytic defects of the phalanges of the hand (HP:0009771)	2.13392219
55	Muscle fiber splitting (HP:0003555)	2.10327187
56	Frequent falls (HP:0002359)	2.09556395
57	Muscular dystrophy (HP:0003560)	2.09394229
58	Calf muscle hypertrophy (HP:0008981)	2.07952267
59	Rhabdomyolysis (HP:0003201)	2.06903969
60	Symptomatic seizures (HP:0011145)	2.05616975
61	Retinal atrophy (HP:0001105)	2.04698059
62	Spondylolisthesis (HP:0003302)	2.04536300
63	Generalized amyotrophy (HP:0003700)	2.03633522
64	Elbow flexion contracture (HP:0002987)	2.02865388
65	Deep venous thrombosis (HP:0002625)	2.02837436
66	Basal ganglia calcification (HP:0002135)	1.98330126
67	Eosinophilia (HP:0001880)	1.97925289
68	Multiple lipomas (HP:0001012)	1.97392101
69	Abnormality of the intrinsic pathway (HP:0010989)	1.96471300
70	Exercise-induced muscle cramps (HP:0003710)	1.96006969
71	Muscle hypertrophy of the lower extremities (HP:0008968)	1.95609115
72	Abnormality of the columella (HP:0009929)	1.94150554
73	Limb-girdle muscle atrophy (HP:0003797)	1.93233570
74	Buphthalmos (HP:0000557)	1.93120988
75	Nemaline bodies (HP:0003798)	1.92068158
76	Hyperkalemia (HP:0002153)	1.91494470
77	Protrusio acetabuli (HP:0003179)	1.90501809
78	Asymmetric septal hypertrophy (HP:0001670)	1.90081658
79	Zonular cataract (HP:0010920)	1.89598672
80	Difficulty climbing stairs (HP:0003551)	1.87881130
81	Myopathic facies (HP:0002058)	1.86274053
82	Abnormality of monocarboxylic acid metabolism (HP:0010996)	1.84366692
83	Increased circulating renin level (HP:0000848)	1.84311614
84	Abnormality of the Achilles tendon (HP:0005109)	1.84132829
85	Increased neuronal autofluorescent lipopigment (HP:0002074)	1.83397903
86	Achilles tendon contracture (HP:0001771)	1.82994598
87	Abnormality of the basal ganglia (HP:0002134)	1.79656857
88	Hyperinsulinemic hypoglycemia (HP:0000825)	1.79463823
89	Hypoglycemic seizures (HP:0002173)	1.79178350
90	Inappropriate behavior (HP:0000719)	1.75388520
91	Thoracolumbar scoliosis (HP:0002944)	1.74469469
92	Purpura (HP:0000979)	1.74371009
93	Vertebral compression fractures (HP:0002953)	1.74311643
94	Complement deficiency (HP:0004431)	1.74078360
95	Apathy (HP:0000741)	1.74075849
96	Protuberant abdomen (HP:0001538)	1.71918268
97	Facial diplegia (HP:0001349)	1.71020764
98	Abnormality of iron homeostasis (HP:0011031)	1.68625554
99	Prolonged neonatal jaundice (HP:0006579)	1.67865264
100	Abnormality of aromatic amino acid family metabolism (HP:0004338)	1.67491323

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	PINK1	6.70007849
2	NME2	4.00039079
3	MARK3	3.47097005
4	OBSCN	3.20166429
5	MYLK	3.09374204
6	IRAK3	2.84677031
7	MAP3K13	2.32668923
8	MOS	2.32516353
9	MAP3K3	2.11445232
10	ARAF	2.04026375
11	LATS1	1.98549209
12	MAP3K1	1.70808595
13	LATS2	1.68920112
14	EIF2AK3	1.60233233
15	TGFBR2	1.58535969
16	TBK1	1.54487284
17	DDR2	1.54401524
18	TTN	1.53999057
19	MAP3K14	1.51728956
20	TAOK2	1.45136875
21	TRPM7	1.29538546
22	TESK1	1.24951529
23	NEK2	1.23238789
24	MAP3K9	1.21057274
25	PRKG2	1.21002720
26	MST1R	1.15960486
27	GRK7	1.10661451
28	PRPF4B	1.10629243
29	PHKG1	1.08609033
30	PHKG2	1.08609033
31	TAOK1	1.07768279
32	ABL2	1.07335666
33	IRAK4	1.06230660
34	STK38	1.01067577
35	ICK	1.00165397
36	IKBKB	0.94706045
37	FRK	0.94595731
38	CLK1	0.92476168
39	ZAP70	0.92370595
40	CDC42BPA	0.91336910
41	PAK2	0.86327137
42	TIE1	0.86135457
43	BLK	0.85721226
44	RIPK1	0.85265476
45	MAP2K3	0.85113424
46	MAP3K5	0.84641488
47	ERN1	0.84176196
48	STK38L	0.82891619
49	PDGFRA	0.82664335
50	MAP2K7	0.80985618
51	IRAK2	0.80325792
52	MAP2K6	0.74663537
53	PTK2B	0.71885148
54	PIM2	0.71620281
55	PDPK1	0.69738739
56	BMPR2	0.69454033
57	CDK3	0.68404524
58	ROCK1	0.67997317
59	KSR2	0.67653100
60	DAPK3	0.65861438
61	PAK1	0.65055811
62	MAPK12	0.64689086
63	ILK	0.64064245
64	MAPKAPK3	0.62314468
65	ADRBK2	0.57895483
66	STK3	0.57112015
67	MAPK11	0.55647193
68	CHUK	0.54787805
69	JAK3	0.54453324
70	FGR	0.54144694
71	IKBKE	0.53638312
72	PBK	0.51899148
73	PDK2	0.51545775
74	MELK	0.49918676
75	PRKCQ	0.48776695
76	ROCK2	0.48326986
77	STK4	0.48196348
78	MAP3K11	0.47711712
79	JAK1	0.47679193
80	RPS6KB1	0.47388805
81	PIK3CG	0.47323361
82	FGFR3	0.46095494
83	BRAF	0.45677997
84	MAPKAPK2	0.45330173
85	MET	0.45033616
86	CSNK1A1L	0.44708283
87	MAP3K12	0.44436431
88	MAP3K8	0.44007958
89	NEK9	0.43922002
90	PTK2	0.43320243
91	MTOR	0.42773733
92	SCYL2	0.41487382
93	KSR1	0.41414668
94	AKT2	0.40959854
95	PDK1	0.39438279
96	MUSK	0.39415398
97	SGK494	0.38734894
98	SGK223	0.38734894
99	SIK3	0.36980454
100	PAK4	0.36328483

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Other glycan degradation_Homo sapiens_hsa00511	3.76706081
2	Glycosaminoglycan degradation_Homo sapiens_hsa00531	2.45893678
3	Lysosome_Homo sapiens_hsa04142	2.39238371
4	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532	2.19236315
5	Toll-like receptor signaling pathway_Homo sapiens_hsa04620	2.12292060
6	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.98573903
7	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	1.98237747
8	Complement and coagulation cascades_Homo sapiens_hsa04610	1.97268390
9	Pertussis_Homo sapiens_hsa05133	1.82694311
10	Malaria_Homo sapiens_hsa05144	1.70517433
11	Rheumatoid arthritis_Homo sapiens_hsa05323	1.70054323
12	Staphylococcus aureus infection_Homo sapiens_hsa05150	1.66737127
13	NF-kappa B signaling pathway_Homo sapiens_hsa04064	1.65248733
14	Phagosome_Homo sapiens_hsa04145	1.57105778
15	Osteoclast differentiation_Homo sapiens_hsa04380	1.55402257
16	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.54051426
17	Legionellosis_Homo sapiens_hsa05134	1.35336672
18	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	1.35262290
19	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	1.33343822
20	Tuberculosis_Homo sapiens_hsa05152	1.32549035
21	Salmonella infection_Homo sapiens_hsa05132	1.29921480
22	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	1.28901952
23	TNF signaling pathway_Homo sapiens_hsa04668	1.22092583
24	Glutathione metabolism_Homo sapiens_hsa00480	1.21923467
25	Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524	1.21502931
26	Leishmaniasis_Homo sapiens_hsa05140	1.20493084
27	Mineral absorption_Homo sapiens_hsa04978	1.16369298
28	Apoptosis_Homo sapiens_hsa04210	1.15968337
29	PPAR signaling pathway_Homo sapiens_hsa03320	1.12198960
30	Sphingolipid metabolism_Homo sapiens_hsa00600	1.10123807
31	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.07399919
32	Chagas disease (American trypanosomiasis)_Homo sapiens_hsa05142	1.06542273
33	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	1.04833041
34	Arginine biosynthesis_Homo sapiens_hsa00220	1.01851612
35	Toxoplasmosis_Homo sapiens_hsa05145	0.95525614
36	Prion diseases_Homo sapiens_hsa05020	0.94505161
37	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.93949546
38	RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622	0.93762572
39	Influenza A_Homo sapiens_hsa05164	0.92149343
40	African trypanosomiasis_Homo sapiens_hsa05143	0.91220817
41	Focal adhesion_Homo sapiens_hsa04510	0.89578022
42	Pentose phosphate pathway_Homo sapiens_hsa00030	0.85941131
43	Bladder cancer_Homo sapiens_hsa05219	0.84133467
44	Chemical carcinogenesis_Homo sapiens_hsa05204	0.83753135
45	Graft-versus-host disease_Homo sapiens_hsa05332	0.83241601
46	Asthma_Homo sapiens_hsa05310	0.81303147
47	Dilated cardiomyopathy_Homo sapiens_hsa05414	0.80317348
48	Insulin resistance_Homo sapiens_hsa04931	0.77318751
49	Circadian rhythm_Homo sapiens_hsa04710	0.77152104
50	Galactose metabolism_Homo sapiens_hsa00052	0.76811099
51	Shigellosis_Homo sapiens_hsa05131	0.75925556
52	Sphingolipid signaling pathway_Homo sapiens_hsa04071	0.75111084
53	Hepatitis C_Homo sapiens_hsa05160	0.74355948
54	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.73282953
55	Type I diabetes mellitus_Homo sapiens_hsa04940	0.73258566
56	Allograft rejection_Homo sapiens_hsa05330	0.72788170
57	Fructose and mannose metabolism_Homo sapiens_hsa00051	0.71526165
58	Amoebiasis_Homo sapiens_hsa05146	0.70638481
59	Hematopoietic cell lineage_Homo sapiens_hsa04640	0.69977969
60	mTOR signaling pathway_Homo sapiens_hsa04150	0.69504821
61	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.69309774
62	Vibrio cholerae infection_Homo sapiens_hsa05110	0.68818043
63	Renin secretion_Homo sapiens_hsa04924	0.68714947
64	Insulin signaling pathway_Homo sapiens_hsa04910	0.68340987
65	beta-Alanine metabolism_Homo sapiens_hsa00410	0.67953108
66	Hepatitis B_Homo sapiens_hsa05161	0.67939828
67	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.67596402
68	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	0.67348850
69	ECM-receptor interaction_Homo sapiens_hsa04512	0.67081176
70	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.66674492
71	Platelet activation_Homo sapiens_hsa04611	0.65418296
72	Sulfur metabolism_Homo sapiens_hsa00920	0.65410073
73	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.64527055
74	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.64156047
75	NOD-like receptor signaling pathway_Homo sapiens_hsa04621	0.63867407
76	Gap junction_Homo sapiens_hsa04540	0.62900991
77	Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141	0.62120409
78	Measles_Homo sapiens_hsa05162	0.61824732
79	Herpes simplex infection_Homo sapiens_hsa05168	0.60168852
80	Glucagon signaling pathway_Homo sapiens_hsa04922	0.60118109
81	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.59933137
82	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.59728931
83	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.56813718
84	Collecting duct acid secretion_Homo sapiens_hsa04966	0.55435301
85	Type II diabetes mellitus_Homo sapiens_hsa04930	0.54823354
86	Jak-STAT signaling pathway_Homo sapiens_hsa04630	0.52740598
87	Proteoglycans in cancer_Homo sapiens_hsa05205	0.52368315
88	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.49452275
89	Butanoate metabolism_Homo sapiens_hsa00650	0.47737289
90	Viral myocarditis_Homo sapiens_hsa05416	0.46955193
91	B cell receptor signaling pathway_Homo sapiens_hsa04662	0.46273753
92	Antigen processing and presentation_Homo sapiens_hsa04612	0.46138117
93	Acute myeloid leukemia_Homo sapiens_hsa05221	0.45600455
94	Adipocytokine signaling pathway_Homo sapiens_hsa04920	0.45226390
95	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.43667990
96	Tryptophan metabolism_Homo sapiens_hsa00380	0.41986161
97	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.39397076
98	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.38450856
99	Central carbon metabolism in cancer_Homo sapiens_hsa05230	0.38087253
100	Peroxisome_Homo sapiens_hsa04146	0.38083042

PTCHD3P1

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

Tissue Expression Export image »

Cell Line Expression Export image »