ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	protein heterotrimerization (GO:0070208)	5.27011682
2	type B pancreatic cell proliferation (GO:0044342)	5.08872689
3	collagen fibril organization (GO:0030199)	4.95246471
4	regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)	4.91836824
5	sequestering of extracellular ligand from receptor (GO:0035581)	4.74999851
6	negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)	4.72323531
7	regulation of vascular endothelial growth factor signaling pathway (GO:1900746)	4.61647641
8	regulation of apoptotic process involved in morphogenesis (GO:1902337)	4.52846944
9	skin morphogenesis (GO:0043589)	4.41700286
10	membrane raft organization (GO:0031579)	4.20378737
11	cellular response to vitamin (GO:0071295)	4.13920735
12	lens fiber cell development (GO:0070307)	4.12468937
13	cellular response to vitamin D (GO:0071305)	4.11102183
14	cell adhesion mediated by integrin (GO:0033627)	3.98475679
15	endodermal cell differentiation (GO:0035987)	3.90734496
16	regulation of metalloenzyme activity (GO:0048552)	3.73925025
17	extracellular regulation of signal transduction (GO:1900115)	3.73578878
18	extracellular negative regulation of signal transduction (GO:1900116)	3.73578878
19	barbed-end actin filament capping (GO:0051016)	3.69755122
20	adhesion of symbiont to host cell (GO:0044650)	3.65774818
21	virion attachment to host cell (GO:0019062)	3.65774818
22	regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339	3.65770292
23	regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	3.63398935
24	kidney mesenchyme development (GO:0072074)	3.61239067
25	negative regulation of osteoblast proliferation (GO:0033689)	3.60097067
26	regulation of transforming growth factor beta1 production (GO:0032908)	3.59511623
27	pattern specification involved in kidney development (GO:0061004)	3.58974984
28	endocardial cushion development (GO:0003197)	3.45398456
29	regulation of integrin-mediated signaling pathway (GO:2001044)	3.44956916
30	actin filament depolymerization (GO:0030042)	3.43865789
31	extracellular fibril organization (GO:0043206)	3.43276368
32	bone trabecula formation (GO:0060346)	3.40150170
33	regulation of extracellular matrix disassembly (GO:0010715)	3.38336107
34	positive regulation of blood vessel endothelial cell migration (GO:0043536)	3.35694945
35	extracellular matrix assembly (GO:0085029)	3.31800790
36	mesenchymal-epithelial cell signaling (GO:0060638)	3.29470615
37	hypotonic response (GO:0006971)	3.24654229
38	endothelial cell morphogenesis (GO:0001886)	3.23885622
39	regulation of interleukin-8 secretion (GO:2000482)	3.19976696
40	negative regulation of smooth muscle cell migration (GO:0014912)	3.19860458
41	blood vessel maturation (GO:0001955)	3.16429926
42	positive regulation of actin filament depolymerization (GO:0030836)	3.16253192
43	regulation of type B pancreatic cell apoptotic process (GO:2000674)	3.14889940
44	cell migration involved in heart development (GO:0060973)	3.14664834
45	chondrocyte proliferation (GO:0035988)	3.10768113
46	positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	3.08832596
47	negative regulation of nitric-oxide synthase activity (GO:0051001)	3.08191248
48	regulation of plasminogen activation (GO:0010755)	3.08155133
49	protein maturation by protein folding (GO:0022417)	3.07264495
50	positive regulation of endothelial cell apoptotic process (GO:2000353)	3.05080619
51	fibril organization (GO:0097435)	3.03473406
52	mesodermal cell differentiation (GO:0048333)	3.00801337
53	hyaluronan catabolic process (GO:0030214)	2.99486821
54	positive regulation of protein autophosphorylation (GO:0031954)	2.96431171
55	platelet aggregation (GO:0070527)	2.92607319
56	adhesion of symbiont to host (GO:0044406)	2.92228859
57	inner ear receptor cell development (GO:0060119)	2.89675235
58	cell migration involved in sprouting angiogenesis (GO:0002042)	2.85444414
59	activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)	2.82796518
60	cytidine metabolic process (GO:0046087)	2.81553977
61	cytidine catabolic process (GO:0006216)	2.81553977
62	cytidine deamination (GO:0009972)	2.81553977
63	positive regulation of cartilage development (GO:0061036)	2.81437014
64	hemidesmosome assembly (GO:0031581)	2.80952064
65	middle ear morphogenesis (GO:0042474)	2.79741209
66	cellular response to amino acid stimulus (GO:0071230)	2.77772219
67	calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules (GO:0016338)	2.77214931
68	COPI coating of Golgi vesicle (GO:0048205)	2.76787269
69	Golgi transport vesicle coating (GO:0048200)	2.76787269
70	substrate-dependent cell migration (GO:0006929)	2.73607674
71	negative regulation of BMP signaling pathway (GO:0030514)	2.72720100
72	muscle cell migration (GO:0014812)	2.72619692
73	embryonic cranial skeleton morphogenesis (GO:0048701)	2.71874725
74	regulation of branching involved in salivary gland morphogenesis (GO:0060693)	2.70975908
75	collagen metabolic process (GO:0032963)	2.68252166
76	cartilage development involved in endochondral bone morphogenesis (GO:0060351)	2.64541392
77	metanephric mesenchyme development (GO:0072075)	2.64273268
78	regulation of osteoblast proliferation (GO:0033688)	2.62970846
79	response to redox state (GO:0051775)	2.62112615
80	magnesium ion transport (GO:0015693)	2.59250232
81	axonemal dynein complex assembly (GO:0070286)	2.59186212
82	positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	2.58015944
83	cell-substrate junction assembly (GO:0007044)	2.56566188
84	heparan sulfate proteoglycan biosynthetic process (GO:0015012)	2.55658483
85	positive regulation of fibroblast migration (GO:0010763)	2.55496959
86	negative regulation of homotypic cell-cell adhesion (GO:0034111)	2.53661242
87	protein retention in ER lumen (GO:0006621)	2.52620249
88	substrate adhesion-dependent cell spreading (GO:0034446)	2.52010731
89	nephron tubule formation (GO:0072079)	2.51202880
90	glomerular basement membrane development (GO:0032836)	2.50559355
91	actin nucleation (GO:0045010)	2.49685177
92	negative regulation of bone remodeling (GO:0046851)	2.49609759
93	pyrimidine ribonucleoside catabolic process (GO:0046133)	2.49514264
94	response to magnesium ion (GO:0032026)	2.46239781
95	collagen catabolic process (GO:0030574)	2.44588585
96	left/right pattern formation (GO:0060972)	2.44558232
97	protein localization to endosome (GO:0036010)	2.44530747
98	motile cilium assembly (GO:0044458)	2.43608368
99	positive regulation of osteoblast proliferation (GO:0033690)	2.42969804
100	sprouting angiogenesis (GO:0002040)	2.42953199

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	TRIM28_21343339_ChIP-Seq_HEK293_Human	8.19785744
2	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	5.46670893
3	RARG_19884340_ChIP-ChIP_MEFs_Mouse	4.94386837
4	TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat	4.67042430
5	PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse	3.90327655
6	TP63_17297297_ChIP-ChIP_HaCaT_Human	3.40985552
7	* BRD4_25478319_ChIP-Seq_HGPS_Human	3.20615768
8	TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	2.90995925
9	CJUN_26792858_Chip-Seq_BT549_Human	2.60745011
10	SMAD_19615063_ChIP-ChIP_OVARY_Human	2.52082800
11	TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse	2.51856780
12	RUNX2_24764292_ChIP-Seq_MC3T3_Mouse	2.42971323
13	ATF3_23680149_ChIP-Seq_GBM1-GSC_Human	2.38009366
14	SMAD4_19686287_ChIP-ChIP_HaCaT_Human	2.33900313
15	TP53_18474530_ChIP-ChIP_U2OS_Human	2.09964154
16	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	2.09352243
17	JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	2.09061243
18	SMAD3_18955504_ChIP-ChIP_HaCaT_Human	2.07782914
19	SMAD2_18955504_ChIP-ChIP_HaCaT_Human	2.07782914
20	JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	2.03377616
21	FOXP3_17237761_ChIP-ChIP_TREG_Mouse	1.99134484
22	CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse	1.98045169
23	EED_16625203_ChIP-ChIP_MESCs_Mouse	1.90604227
24	ESR1_22446102_ChIP-Seq_UTERUS_Mouse	1.88858718
25	CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse	1.87527015
26	WT1_19549856_ChIP-ChIP_CCG9911_Human	1.87188721
27	HIF1A_21447827_ChIP-Seq_MCF-7_Human	1.86784443
28	SUZ12_18692474_ChIP-Seq_MEFs_Mouse	1.74772026
29	NRF2_20460467_ChIP-Seq_MEFs_Mouse	1.74024414
30	NFE2L2_20460467_ChIP-Seq_MEFs_Mouse	1.74024414
31	TP53_22127205_ChIP-Seq_IMR90_Human	1.73577352
32	ELK3_25401928_ChIP-Seq_HUVEC_Human	1.71576016
33	RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human	1.70631097
34	EP300_21415370_ChIP-Seq_HL-1_Mouse	1.69800366
35	TP53_16413492_ChIP-PET_HCT116_Human	1.65855906
36	* KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human	1.65218368
37	SOX2_20726797_ChIP-Seq_SW620_Human	1.64325405
38	SUZ12_18974828_ChIP-Seq_MESCs_Mouse	1.59884793
39	PPAR_26484153_Chip-Seq_NCI-H1993_Human	1.59528117
40	SMC1_22415368_ChIP-Seq_MEFs_Mouse	1.59444366
41	SRY_22984422_ChIP-ChIP_TESTIS_Rat	1.54810247
42	* ATF3_27146783_Chip-Seq_COLON_Human	1.48058180
43	ESR1_21235772_ChIP-Seq_MCF-7_Human	1.47549359
44	SMC3_22415368_ChIP-Seq_MEFs_Mouse	1.45665942
45	MEF2A_21415370_ChIP-Seq_HL-1_Mouse	1.45572386
46	GATA2_21666600_ChIP-Seq_HMVEC_Human	1.44297558
47	HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse	1.43586552
48	CDX2_19796622_ChIP-Seq_MESCs_Mouse	1.31832231
49	PHC1_16625203_ChIP-ChIP_MESCs_Mouse	1.24910177
50	POU5F1_18700969_ChIP-ChIP_MESCs_Mouse	1.23882768
51	CEBPB_24764292_ChIP-Seq_MC3T3_Mouse	1.23224087
52	CDX2_20551321_ChIP-Seq_CACO-2_Human	1.21944106
53	CLOCK_20551151_ChIP-Seq_293T_Human	1.21745400
54	SUZ12_16625203_ChIP-ChIP_MESCs_Mouse	1.19925711
55	TP53_20018659_ChIP-ChIP_R1E_Mouse	1.19519825
56	SUZ12_18555785_ChIP-Seq_MESCs_Mouse	1.17964075
57	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	1.17600318
58	UBF1/2_26484160_Chip-Seq_HMECs_Human	1.17466944
59	RACK7_27058665_Chip-Seq_MCF-7_Human	1.14380120
60	SALL4_18804426_ChIP-ChIP_XEN_Mouse	1.13692335
61	RNF2_16625203_ChIP-ChIP_MESCs_Mouse	1.12483118
62	FOXO3_23340844_ChIP-Seq_DLD1_Human	1.10721569
63	P63_26484246_Chip-Seq_KERATINOCYTES_Human	1.10018512
64	SA1_22415368_ChIP-Seq_MEFs_Mouse	1.07761416
65	TP53_23651856_ChIP-Seq_MEFs_Mouse	1.07442716
66	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.05677400
67	P300_27058665_Chip-Seq_ZR-75-30cells_Human	1.05186597
68	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.04131536
69	MTF2_20144788_ChIP-Seq_MESCs_Mouse	1.02949232
70	* PPARD_21283829_ChIP-Seq_MYOFIBROBLAST_Human	1.00163207
71	ZIC3_20872845_ChIP-ChIP_MESCs_Mouse	0.98457175
72	ZNF217_24962896_ChIP-Seq_MCF-7_Human	0.98116665
73	ESR2_21235772_ChIP-Seq_MCF-7_Human	0.97906891
74	* KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human	0.97398586
75	UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human	0.95540989
76	EZH2_18974828_ChIP-Seq_MESCs_Mouse	0.95014973
77	RNF2_18974828_ChIP-Seq_MESCs_Mouse	0.95014973
78	SOX9_24532713_ChIP-Seq_HFSC_Mouse	0.94936444
79	RAD21_21589869_ChIP-Seq_MESCs_Mouse	0.92689413
80	* TP63_23658742_ChIP-Seq_EP156T_Human	0.92598356
81	CSB_26484114_Chip-Seq_FIBROBLAST_Human	0.92450012
82	NFI_21473784_ChIP-Seq_ESCs_Mouse	0.90835514
83	JARID2_20075857_ChIP-Seq_MESCs_Mouse	0.90785819
84	* ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human	0.89793313
85	* FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human	0.88145301
86	TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse	0.86577731
87	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	0.83607647
88	NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse	0.82173943
89	PIAS1_25552417_ChIP-Seq_VCAP_Human	0.81025768
90	ZNF263_19887448_ChIP-Seq_K562_Human	0.80585447
91	LXR_22292898_ChIP-Seq_THP-1_Human	0.79470968
92	WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse	0.76562351
93	EOMES_20176728_ChIP-ChIP_TSCs_Mouse	0.74136453
94	SUZ12_20075857_ChIP-Seq_MESCs_Mouse	0.73860646
95	* ARNT_22903824_ChIP-Seq_MCF-7_Human	0.73502886
96	STAT6_21828071_ChIP-Seq_BEAS2B_Human	0.73422305
97	SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse	0.72939741
98	KLF4_18358816_ChIP-ChIP_MESCs_Mouse	0.71153523
99	RUNX1_20887958_ChIP-Seq_HPC-7_Mouse	0.70543868
100	FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human	0.67748479

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0008438_abnormal_cutaneous_collagen	7.04552584
2	MP0005503_abnormal_tendon_morphology	4.43624655
3	MP0004272_abnormal_basement_membrane	3.87121632
4	MP0005623_abnormal_meninges_morphology	3.84206152
5	MP0001958_emphysema	3.48196036
6	MP0003279_aneurysm	3.37709687
7	MP0003705_abnormal_hypodermis_morpholog	3.32855522
8	MP0010386_abnormal_urinary_bladder	3.24857343
9	MP0005275_abnormal_skin_tensile	3.16286364
10	MP0001542_abnormal_bone_strength	2.98676446
11	MP0003950_abnormal_plasma_membrane	2.97803264
12	MP0005257_abnormal_intraocular_pressure	2.92348028
13	MP0009384_cardiac_valve_regurgitation	2.69776073
14	MP0009780_abnormal_chondrocyte_physiolo	2.53417244
15	MP0003566_abnormal_cell_adhesion	2.43683272
16	MP0005023_abnormal_wound_healing	2.37482360
17	MP0006054_spinal_hemorrhage	2.25365255
18	MP0000013_abnormal_adipose_tissue	2.07594908
19	MP0003091_abnormal_cell_migration	1.76907864
20	MP0005508_abnormal_skeleton_morphology	1.70686982
21	MP0002060_abnormal_skin_morphology	1.68527299
22	MP0002877_abnormal_melanocyte_morpholog	1.67822490
23	MP0003941_abnormal_skin_development	1.66602387
24	MP0000534_abnormal_ureter_morphology	1.62168786
25	MP0004510_myositis	1.61683079
26	MP0004134_abnormal_chest_morphology	1.59667375
27	MP0001243_abnormal_dermal_layer	1.59455543
28	MP0010368_abnormal_lymphatic_system	1.59222944
29	MP0009250_abnormal_appendicular_skeleto	1.54964018
30	MP0002295_abnormal_pulmonary_circulatio	1.47820412
31	MP0005464_abnormal_platelet_physiology	1.44593180
32	MP0005084_abnormal_gallbladder_morpholo	1.38140388
33	MP0000767_abnormal_smooth_muscle	1.37780715
34	MP0010352_gastrointestinal_tract_polyps	1.31547660
35	MP0008004_abnormal_stomach_pH	1.31325179
36	MP0004858_abnormal_nervous_system	1.28490512
37	MP0001881_abnormal_mammary_gland	1.28359775
38	MP0010030_abnormal_orbit_morphology	1.26758193
39	MP0000003_abnormal_adipose_tissue	1.23392149
40	MP0001299_abnormal_eye_distance/	1.21214096
41	MP0002108_abnormal_muscle_morphology	1.19446263
42	MP0001348_abnormal_lacrimal_gland	1.18659236
43	MP0002896_abnormal_bone_mineralization	1.16186706
44	MP0009053_abnormal_anal_canal	1.11900092
45	MP0003942_abnormal_urinary_system	1.09119461
46	MP0001879_abnormal_lymphatic_vessel	1.06057612
47	MP0002163_abnormal_gland_morphology	1.05256016
48	MP0005595_abnormal_vascular_smooth	1.04550017
49	MP0002177_abnormal_outer_ear	1.03845248
50	MP0003045_fibrosis	1.01510513
51	MP0005390_skeleton_phenotype	0.97474538
52	MP0003252_abnormal_bile_duct	0.96977461
53	MP0005164_abnormal_response_to	0.95024325
54	MP0006082_CNS_inflammation	0.93908709
55	MP0000762_abnormal_tongue_morphology	0.92820323
56	MP0003283_abnormal_digestive_organ	0.92179266
57	MP0000749_muscle_degeneration	0.91865765
58	MP0004084_abnormal_cardiac_muscle	0.91723017
59	MP0003448_altered_tumor_morphology	0.89138768
60	MP0005165_increased_susceptibility_to	0.88936948
61	MP0000858_altered_metastatic_potential	0.88885684
62	MP0000733_abnormal_muscle_development	0.88290163
63	MP0003879_abnormal_hair_cell	0.87891711
64	MP0002168_other_aberrant_phenotype	0.87561697
65	MP0001270_distended_abdomen	0.86857763
66	MP0002160_abnormal_reproductive_system	0.86669726
67	MP0000163_abnormal_cartilage_morphology	0.85438533
68	MP0000681_abnormal_thyroid_gland	0.82271891
69	MP0000049_abnormal_middle_ear	0.80644155
70	MP0000685_abnormal_immune_system	0.79948163
71	MP0001756_abnormal_urination	0.78580538
72	MP0002254_reproductive_system_inflammat	0.78096502
73	MP0003300_gastrointestinal_ulcer	0.74338867
74	MP0004036_abnormal_muscle_relaxation	0.71610260
75	MP0002115_abnormal_skeleton_extremities	0.71225225
76	MP0000759_abnormal_skeletal_muscle	0.70145027
77	MP0002132_abnormal_respiratory_system	0.69592892
78	MP0005193_abnormal_anterior_eye	0.66395678
79	MP0003795_abnormal_bone_structure	0.66051303
80	MP0002113_abnormal_skeleton_development	0.65989586
81	MP0002128_abnormal_blood_circulation	0.64792711
82	MP0005197_abnormal_uvea_morphology	0.64331287
83	MP0000538_abnormal_urinary_bladder	0.63295784
84	MP0005083_abnormal_biliary_tract	0.62913710
85	MP0003755_abnormal_palate_morphology	0.58837343
86	MP0002102_abnormal_ear_morphology	0.57853889
87	MP0002928_abnormal_bile_duct	0.57290392
88	MP0002998_abnormal_bone_remodeling	0.57186831
89	MP0000428_abnormal_craniofacial_morphol	0.56271234
90	MP0000467_abnormal_esophagus_morphology	0.55926858
91	MP0002282_abnormal_trachea_morphology	0.55536774
92	MP0000230_abnormal_systemic_arterial	0.53703024
93	MP0000343_altered_response_to	0.52981801
94	MP0002876_abnormal_thyroid_physiology	0.52975930
95	MP0005620_abnormal_muscle_contractility	0.52787463
96	MP0002136_abnormal_kidney_physiology	0.52766441
97	MP0004883_abnormal_blood_vessel	0.52258931
98	MP0003191_abnormal_cellular_cholesterol	0.51616055
99	MP0005501_abnormal_skin_physiology	0.51166775
100	MP0000627_abnormal_mammary_gland	0.50506820

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Premature rupture of membranes (HP:0001788)	7.25685688
2	Protrusio acetabuli (HP:0003179)	7.10670802
3	Ankle contracture (HP:0006466)	5.11816112
4	Aortic aneurysm (HP:0004942)	4.98650640
5	Aortic dissection (HP:0002647)	4.80948113
6	Follicular hyperkeratosis (HP:0007502)	4.79957801
7	Cardiovascular calcification (HP:0011915)	4.46763739
8	Type 1 muscle fiber predominance (HP:0003803)	4.20430574
9	Vascular tortuosity (HP:0004948)	4.10591722
10	Soft skin (HP:0000977)	3.91124412
11	Abnormality of dentin (HP:0010299)	3.83102354
12	Vascular calcification (HP:0004934)	3.73929631
13	Atrophic scars (HP:0001075)	3.68248594
14	Bladder diverticulum (HP:0000015)	3.53506886
15	Wormian bones (HP:0002645)	3.49385296
16	Vertebral compression fractures (HP:0002953)	3.46521692
17	Slender build (HP:0001533)	3.40220994
18	Arterial tortuosity (HP:0005116)	3.38757363
19	Spinal rigidity (HP:0003306)	3.38485031
20	Neonatal short-limb short stature (HP:0008921)	3.34139888
21	Mitral stenosis (HP:0001718)	3.20859797
22	Spondylolisthesis (HP:0003302)	3.14131575
23	Fragile skin (HP:0001030)	2.99352162
24	Elbow flexion contracture (HP:0002987)	2.99108132
25	Genu recurvatum (HP:0002816)	2.87608943
26	Cervical subluxation (HP:0003308)	2.78320037
27	Blue sclerae (HP:0000592)	2.76322847
28	Aortic regurgitation (HP:0001659)	2.75914872
29	Dilatation of the ascending aorta (HP:0005111)	2.74256566
30	Morphological abnormality of the middle ear (HP:0008609)	2.66006096
31	Broad metatarsal (HP:0001783)	2.62566677
32	Wrist flexion contracture (HP:0001239)	2.59624716
33	Shallow orbits (HP:0000586)	2.59035493
34	Bowel diverticulosis (HP:0005222)	2.57587162
35	Biconcave vertebral bodies (HP:0004586)	2.53247091
36	Bowed forearm bones (HP:0003956)	2.53219730
37	Bowing of the arm (HP:0006488)	2.53219730
38	Increased mean platelet volume (HP:0011877)	2.52658814
39	Mitral regurgitation (HP:0001653)	2.49856197
40	Bell-shaped thorax (HP:0001591)	2.48236049
41	Ulnar bowing (HP:0003031)	2.48016017
42	Respiratory insufficiency due to defective ciliary clearance (HP:0200073)	2.46892798
43	Mildly elevated creatine phosphokinase (HP:0008180)	2.45062766
44	Increased variability in muscle fiber diameter (HP:0003557)	2.39548057
45	Peritonitis (HP:0002586)	2.38508188
46	Mesomelia (HP:0003027)	2.37665020
47	Coronal craniosynostosis (HP:0004440)	2.36375137
48	Aortic valve stenosis (HP:0001650)	2.35031290
49	Abnormality of the acetabulum (HP:0003170)	2.32121849
50	Nasal polyposis (HP:0100582)	2.30476973
51	Radial bowing (HP:0002986)	2.28344448
52	Hyperextensible skin (HP:0000974)	2.23124613
53	Delayed gross motor development (HP:0002194)	2.19628537
54	Abnormal delivery (HP:0001787)	2.16724674
55	Abnormality of skeletal muscle fiber size (HP:0012084)	2.16239270
56	Round ear (HP:0100830)	2.16173364
57	Abnormality of magnesium homeostasis (HP:0004921)	2.15895005
58	Generalized amyotrophy (HP:0003700)	2.15539793
59	Abnormal platelet volume (HP:0011876)	2.14048929
60	Abnormality of the nasal mucosa (HP:0000433)	2.13407305
61	Hypoventilation (HP:0002791)	2.12220837
62	Menorrhagia (HP:0000132)	2.11604778
63	Rhinitis (HP:0012384)	2.07607161
64	Entropion (HP:0000621)	2.07027898
65	Mitral valve prolapse (HP:0001634)	2.06966501
66	Abnormal respiratory motile cilium physiology (HP:0012261)	2.06463301
67	Joint laxity (HP:0001388)	2.05952636
68	Broad face (HP:0000283)	2.05941428
69	Osteolytic defects of the hand bones (HP:0009699)	2.04656380
70	Osteolytic defects of the phalanges of the hand (HP:0009771)	2.04656380
71	Glucose intolerance (HP:0000833)	2.03194233
72	Reduced subcutaneous adipose tissue (HP:0003758)	2.03018551
73	Redundant skin (HP:0001582)	2.02799956
74	Hyperuricemia (HP:0002149)	2.01343087
75	Increased purine levels (HP:0004368)	2.01343087
76	Tetany (HP:0001281)	2.01190282
77	Bradycardia (HP:0001662)	1.96829892
78	Wide anterior fontanel (HP:0000260)	1.96355819
79	Joint stiffness (HP:0001387)	1.94562392
80	Delayed closure of the anterior fontanelle (HP:0001476)	1.90670051
81	Nonimmune hydrops fetalis (HP:0001790)	1.89804458
82	Absent frontal sinuses (HP:0002688)	1.89797334
83	Femoral bowing (HP:0002980)	1.89101614
84	Unilateral renal agenesis (HP:0000122)	1.88703096
85	Abnormality of the Achilles tendon (HP:0005109)	1.87742183
86	Hypothermia (HP:0002045)	1.87404497
87	Hyperacusis (HP:0010780)	1.86779404
88	Breech presentation (HP:0001623)	1.82838022
89	Achilles tendon contracture (HP:0001771)	1.81338871
90	Abnormal ciliary motility (HP:0012262)	1.80808589
91	Deviation of the hallux (HP:0010051)	1.78759020
92	Hoarse voice (HP:0001609)	1.78092735
93	Thoracolumbar scoliosis (HP:0002944)	1.77870004
94	Distal upper limb amyotrophy (HP:0007149)	1.76685319
95	Upper limb amyotrophy (HP:0009129)	1.76685319
96	Aneurysm (HP:0002617)	1.75419349
97	Hypomagnesemia (HP:0002917)	1.73400226
98	Mild short stature (HP:0003502)	1.71285419
99	Delayed cranial suture closure (HP:0000270)	1.70746525
100	Knee flexion contracture (HP:0006380)	1.70679385

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	MYLK	6.05112942
2	LIMK1	3.79367256
3	TESK1	3.47558724
4	MAP3K12	2.85916151
5	NEK9	2.64737014
6	PTK2	2.45885850
7	MST4	2.29576872
8	EPHA2	2.19934360
9	TTN	2.17023090
10	ILK	2.11099821
11	ABL2	2.07510614
12	DDR2	2.05762402
13	NTRK1	2.04472893
14	PAK2	1.99798593
15	PIK3CG	1.83640969
16	PRKD2	1.78091464
17	PDGFRA	1.76372976
18	TESK2	1.63907095
19	MAPK15	1.57458167
20	PAK4	1.53836362
21	MAPKAPK3	1.53137819
22	PTK2B	1.52575881
23	TRPM7	1.50012214
24	STK38	1.41789229
25	EPHB2	1.41576151
26	MOS	1.39542583
27	GRK7	1.37542683
28	LMTK2	1.35470948
29	AKT3	1.32296003
30	KDR	1.29982201
31	ROCK1	1.26558132
32	SCYL2	1.26518590
33	TAOK2	1.23582364
34	WNK4	1.22293851
35	DAPK3	1.19695474
36	MAP3K3	1.18099868
37	ARAF	1.18047251
38	PIM2	1.12475170
39	IRAK3	1.09617676
40	ROCK2	1.08497214
41	ADRBK1	1.05933920
42	LATS1	1.05348473
43	ERBB4	1.02387019
44	MET	1.01733596
45	NEK2	1.00163619
46	PAK1	0.99958622
47	MAP2K3	0.95472078
48	MST1R	0.94579012
49	TRIB3	0.89694777
50	PRKG2	0.89635180
51	STK3	0.88101521
52	CDK8	0.86495583
53	STK24	0.85967921
54	TLK1	0.85060368
55	ZAP70	0.80595873
56	BCR	0.78299702
57	MELK	0.74752086
58	LATS2	0.73707381
59	PAK6	0.73519074
60	CAMK2G	0.70037506
61	BMPR2	0.69115795
62	PDGFRB	0.68581262
63	BMX	0.68349880
64	TBK1	0.65937998
65	TGFBR2	0.65573644
66	CAMK2D	0.61362861
67	CDC42BPA	0.60611095
68	EIF2AK1	0.60403622
69	MAPKAPK2	0.59239390
70	SIK1	0.57407900
71	STK16	0.56626639
72	FLT3	0.55379044
73	GSK3A	0.54832169
74	MUSK	0.52010154
75	SMG1	0.51430451
76	STK38L	0.50811693
77	PRKCE	0.48316880
78	MAP3K5	0.48247881
79	ERN1	0.47580722
80	MAP3K6	0.44753079
81	AURKA	0.44542395
82	EPHB1	0.44137815
83	PRKCI	0.43628857
84	PAK3	0.41977553
85	PRKD1	0.39891420
86	STK4	0.38755579
87	DMPK	0.38279209
88	AKT2	0.38149029
89	PDPK1	0.37774912
90	STK10	0.37401676
91	TEC	0.36953911
92	AURKB	0.35325677
93	BUB1	0.33391595
94	RPS6KA2	0.32101965
95	GRK5	0.31940185
96	ERBB3	0.30355125
97	LRRK2	0.29971524
98	PLK2	0.28877303
99	ADRBK2	0.28831633
100	ABL1	0.27744584

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	ECM-receptor interaction_Homo sapiens_hsa04512	4.07482810
2	Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534	3.79690787
3	Focal adhesion_Homo sapiens_hsa04510	3.10159931
4	Bacterial invasion of epithelial cells_Homo sapiens_hsa05100	2.71378615
5	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	2.71311127
6	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532	2.63043598
7	Sulfur metabolism_Homo sapiens_hsa00920	2.33723909
8	Regulation of actin cytoskeleton_Homo sapiens_hsa04810	2.31246657
9	Protein export_Homo sapiens_hsa03060	2.16140838
10	Shigellosis_Homo sapiens_hsa05131	2.15561159
11	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	1.96608614
12	Leukocyte transendothelial migration_Homo sapiens_hsa04670	1.87663833
13	Proteoglycans in cancer_Homo sapiens_hsa05205	1.81485010
14	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	1.78573429
15	Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141	1.74670681
16	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.61675502
17	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	1.59127607
18	Tight junction_Homo sapiens_hsa04530	1.59049004
19	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.58198647
20	Vibrio cholerae infection_Homo sapiens_hsa05110	1.56116803
21	Protein digestion and absorption_Homo sapiens_hsa04974	1.53833099
22	Melanoma_Homo sapiens_hsa05218	1.52523956
23	Dilated cardiomyopathy_Homo sapiens_hsa05414	1.51237996
24	Sulfur relay system_Homo sapiens_hsa04122	1.44188173
25	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	1.37911594
26	Salmonella infection_Homo sapiens_hsa05132	1.36862454
27	PI3K-Akt signaling pathway_Homo sapiens_hsa04151	1.34857904
28	Bladder cancer_Homo sapiens_hsa05219	1.30338284
29	Platelet activation_Homo sapiens_hsa04611	1.29217751
30	Amoebiasis_Homo sapiens_hsa05146	1.25777079
31	Small cell lung cancer_Homo sapiens_hsa05222	1.24704806
32	Hippo signaling pathway_Homo sapiens_hsa04390	1.24249579
33	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.22536155
34	p53 signaling pathway_Homo sapiens_hsa04115	1.22256552
35	TGF-beta signaling pathway_Homo sapiens_hsa04350	1.20502584
36	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	1.15803811
37	Glutathione metabolism_Homo sapiens_hsa00480	1.15649116
38	Vitamin B6 metabolism_Homo sapiens_hsa00750	1.10646706
39	Endocytosis_Homo sapiens_hsa04144	1.10002765
40	AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933	1.07919161
41	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	1.03762296
42	Folate biosynthesis_Homo sapiens_hsa00790	1.03574375
43	Glycosaminoglycan degradation_Homo sapiens_hsa00531	1.03076067
44	Huntingtons disease_Homo sapiens_hsa05016	1.02268555
45	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.98997277
46	Proteasome_Homo sapiens_hsa03050	0.97433662
47	Adherens junction_Homo sapiens_hsa04520	0.97087802
48	Sphingolipid metabolism_Homo sapiens_hsa00600	0.91240806
49	Hematopoietic cell lineage_Homo sapiens_hsa04640	0.87484684
50	Galactose metabolism_Homo sapiens_hsa00052	0.86810502
51	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.85451934
52	One carbon pool by folate_Homo sapiens_hsa00670	0.85330564
53	Malaria_Homo sapiens_hsa05144	0.83111226
54	Pyrimidine metabolism_Homo sapiens_hsa00240	0.80669714
55	Pathways in cancer_Homo sapiens_hsa05200	0.79113164
56	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.78721141
57	Oxidative phosphorylation_Homo sapiens_hsa00190	0.74451150
58	Rap1 signaling pathway_Homo sapiens_hsa04015	0.74285881
59	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.71612817
60	Nitrogen metabolism_Homo sapiens_hsa00910	0.64524592
61	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	0.62077195
62	Gap junction_Homo sapiens_hsa04540	0.61056147
63	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.60798688
64	Basal cell carcinoma_Homo sapiens_hsa05217	0.60660606
65	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.55893262
66	TNF signaling pathway_Homo sapiens_hsa04668	0.55510375
67	RNA polymerase_Homo sapiens_hsa03020	0.55178948
68	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.53586296
69	Ras signaling pathway_Homo sapiens_hsa04014	0.52179988
70	Nucleotide excision repair_Homo sapiens_hsa03420	0.52067837
71	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	0.49849614
72	Apoptosis_Homo sapiens_hsa04210	0.49790587
73	Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514	0.49781329
74	Hepatitis C_Homo sapiens_hsa05160	0.48926412
75	African trypanosomiasis_Homo sapiens_hsa05143	0.48201695
76	Alzheimers disease_Homo sapiens_hsa05010	0.47966570
77	Melanogenesis_Homo sapiens_hsa04916	0.47490021
78	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.47292047
79	Phagosome_Homo sapiens_hsa04145	0.44662771
80	Natural killer cell mediated cytotoxicity_Homo sapiens_hsa04650	0.44615755
81	Prostate cancer_Homo sapiens_hsa05215	0.41817745
82	Parkinsons disease_Homo sapiens_hsa05012	0.40805201
83	Wnt signaling pathway_Homo sapiens_hsa04310	0.39224560
84	Rheumatoid arthritis_Homo sapiens_hsa05323	0.38536311
85	Pertussis_Homo sapiens_hsa05133	0.37114718
86	Cardiac muscle contraction_Homo sapiens_hsa04260	0.36402729
87	Alcoholism_Homo sapiens_hsa05034	0.34755205
88	Graft-versus-host disease_Homo sapiens_hsa05332	0.34564708
89	HTLV-I infection_Homo sapiens_hsa05166	0.32940289
90	MicroRNAs in cancer_Homo sapiens_hsa05206	0.32785060
91	Viral myocarditis_Homo sapiens_hsa05416	0.32621065
92	MAPK signaling pathway_Homo sapiens_hsa04010	0.30244478
93	Pancreatic secretion_Homo sapiens_hsa04972	0.29835233
94	Renin-angiotensin system_Homo sapiens_hsa04614	0.28409394
95	Central carbon metabolism in cancer_Homo sapiens_hsa05230	0.27599606
96	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.26681510
97	Pancreatic cancer_Homo sapiens_hsa05212	0.26608000
98	Chemical carcinogenesis_Homo sapiens_hsa05204	0.25117208
99	Purine metabolism_Homo sapiens_hsa00230	0.24787319
100	Measles_Homo sapiens_hsa05162	0.24693979

C12ORF75

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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