PCOLCE

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: Fibrillar collagen types I-III are synthesized as precursor molecules known as procollagens. These precursors contain amino- and carboxyl-terminal peptide extensions known as N- and C-propeptides, respectively, which are cleaved, upon secretion of procollagen from the cell, to yield the mature triple helical, highly structured fibrils. This gene encodes a glycoprotein which binds and drives the enzymatic cleavage of type I procollagen and heightens C-proteinase activity. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1protein heterotrimerization (GO:0070208)8.28979895
2collagen fibril organization (GO:0030199)7.21943899
3bone trabecula formation (GO:0060346)6.17109265
4chondrocyte proliferation (GO:0035988)5.99676427
5sequestering of extracellular ligand from receptor (GO:0035581)5.31709332
6endodermal cell differentiation (GO:0035987)5.23757228
7skin morphogenesis (GO:0043589)5.09419732
8collagen metabolic process (GO:0032963)4.83968446
9collagen catabolic process (GO:0030574)4.74019966
10regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)4.65915981
11axon extension involved in axon guidance (GO:0048846)4.62274633
12neuron projection extension involved in neuron projection guidance (GO:1902284)4.62274633
13dermatan sulfate biosynthetic process (GO:0030208)4.59270431
14multicellular organismal macromolecule metabolic process (GO:0044259)4.53383632
15virion attachment to host cell (GO:0019062)4.48410980
16adhesion of symbiont to host cell (GO:0044650)4.48410980
17type B pancreatic cell proliferation (GO:0044342)4.47677480
18keratan sulfate catabolic process (GO:0042340)4.46450127
19extracellular fibril organization (GO:0043206)4.43214357
20multicellular organismal catabolic process (GO:0044243)4.35576077
21metanephric mesenchyme development (GO:0072075)4.28888888
22multicellular organismal metabolic process (GO:0044236)4.26975477
23basement membrane organization (GO:0071711)4.23426542
24dermatan sulfate metabolic process (GO:0030205)4.18285332
25kidney mesenchyme development (GO:0072074)4.15748286
26peptidyl-proline hydroxylation (GO:0019511)4.09961961
27fibril organization (GO:0097435)4.07376447
28positive regulation of endothelial cell apoptotic process (GO:2000353)4.06096138
29extracellular matrix disassembly (GO:0022617)4.05188806
30cartilage development involved in endochondral bone morphogenesis (GO:0060351)3.94135099
31negative regulation of smooth muscle cell migration (GO:0014912)3.92995031
32mesenchymal-epithelial cell signaling (GO:0060638)3.88002525
33negative regulation of chondrocyte differentiation (GO:0032331)3.87512542
34glomerular basement membrane development (GO:0032836)3.82751221
35craniofacial suture morphogenesis (GO:0097094)3.78026437
36negative regulation of fatty acid transport (GO:2000192)3.77544159
37wound healing, spreading of epidermal cells (GO:0035313)3.73479259
38regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.71678853
39peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)3.70353814
40extracellular matrix assembly (GO:0085029)3.69978141
41cellular response to interferon-alpha (GO:0035457)3.68925601
42planar cell polarity pathway involved in neural tube closure (GO:0090179)3.68220965
43outer ear morphogenesis (GO:0042473)3.67363486
44epithelial cell-cell adhesion (GO:0090136)3.67015334
45cell adhesion mediated by integrin (GO:0033627)3.66562089
46plasma membrane repair (GO:0001778)3.58656199
47cellular response to vitamin (GO:0071295)3.57740903
48protein hydroxylation (GO:0018126)3.53674166
49apoptotic cell clearance (GO:0043277)3.51811896
50vascular endothelial growth factor signaling pathway (GO:0038084)3.50711083
51regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.48925531
52cell migration involved in heart development (GO:0060973)3.48396464
53regulation of tight junction assembly (GO:2000810)3.44502074
54retina vasculature morphogenesis in camera-type eye (GO:0061299)3.44496754
55regulation of plasminogen activation (GO:0010755)3.37278905
56embryonic cranial skeleton morphogenesis (GO:0048701)3.36589082
57cochlea morphogenesis (GO:0090103)3.29407689
58extracellular matrix organization (GO:0030198)3.27796680
59extracellular structure organization (GO:0043062)3.26676696
60negative regulation of cartilage development (GO:0061037)3.25235743
61positive regulation of epithelial to mesenchymal transition (GO:0010718)3.23453578
62endothelial cell morphogenesis (GO:0001886)3.23368418
63G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071993.17954916
64protein localization to cell surface (GO:0034394)3.16212018
65regulation of extracellular matrix disassembly (GO:0010715)3.13289558
66Wnt signaling pathway, planar cell polarity pathway (GO:0060071)3.13124167
67protein retention in ER lumen (GO:0006621)3.11967770
68maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.09901092
69chondroitin sulfate catabolic process (GO:0030207)3.08854838
70barbed-end actin filament capping (GO:0051016)3.08602980
71middle ear morphogenesis (GO:0042474)3.07852211
72blood vessel maturation (GO:0001955)3.07565540
73cellular response to amino acid stimulus (GO:0071230)3.06600250
74chondrocyte development (GO:0002063)3.04453102
75trabecula formation (GO:0060343)3.01042500
76venous blood vessel morphogenesis (GO:0048845)3.00727685
77positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr2.99335485
78endocardial cushion development (GO:0003197)2.98924132
79hippo signaling (GO:0035329)2.98890447
80cellular response to vitamin D (GO:0071305)2.98464795
81wound healing, spreading of cells (GO:0044319)2.97524731
82regulation of establishment of planar polarity (GO:0090175)2.96806167
83negative regulation of catenin import into nucleus (GO:0035414)2.91562694
84regulation of axon extension involved in axon guidance (GO:0048841)2.90836285
85regulation of SMAD protein import into nucleus (GO:0060390)2.89911479
86substrate adhesion-dependent cell spreading (GO:0034446)2.88853311
87paraxial mesoderm development (GO:0048339)2.88681025
88cell proliferation involved in metanephros development (GO:0072203)2.88659188
89extracellular regulation of signal transduction (GO:1900115)2.88340255
90extracellular negative regulation of signal transduction (GO:1900116)2.88340255
91substrate-dependent cell migration (GO:0006929)2.88328691
92regulation of branching involved in salivary gland morphogenesis (GO:0060693)2.87922802
93protein trimerization (GO:0070206)2.83698516
94heparan sulfate proteoglycan biosynthetic process (GO:0015012)2.83407021
95smooth muscle tissue development (GO:0048745)2.80863523
96muscle cell migration (GO:0014812)2.80508730
97cranial suture morphogenesis (GO:0060363)2.79847507
98negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)2.79835365
99endothelial cell proliferation (GO:0001935)2.78718054
100convergent extension (GO:0060026)2.78314195
101positive regulation of extracellular matrix organization (GO:1903055)2.78021539
102positive regulation of smoothened signaling pathway (GO:0045880)2.77085427
103positive regulation of blood vessel endothelial cell migration (GO:0043536)2.76597790
104negative regulation of BMP signaling pathway (GO:0030514)2.75815800
105cell-substrate junction assembly (GO:0007044)2.75329682
106stress fiber assembly (GO:0043149)2.75130424
107artery morphogenesis (GO:0048844)2.72391242
108epoxygenase P450 pathway (GO:0019373)2.72231640
109regulation of cartilage development (GO:0061035)2.71816639
110regulation of integrin-mediated signaling pathway (GO:2001044)2.71534042
111negative regulation of embryonic development (GO:0045992)2.71223162
112adhesion of symbiont to host (GO:0044406)2.70904613
113cell migration involved in sprouting angiogenesis (GO:0002042)2.69966878
114tooth mineralization (GO:0034505)2.69667697
115regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition 2.69520514
116positive regulation of mesenchymal cell proliferation (GO:0002053)2.69132958
117cellular response to vascular endothelial growth factor stimulus (GO:0035924)2.69004372
118adherens junction assembly (GO:0034333)2.68760067
119embryonic skeletal joint morphogenesis (GO:0060272)2.66726171
120glycosaminoglycan catabolic process (GO:0006027)2.66618209
121chondroitin sulfate biosynthetic process (GO:0030206)2.66398947
122wound healing (GO:0042060)2.65627829
123polarized epithelial cell differentiation (GO:0030859)2.65539611
124positive regulation of osteoblast proliferation (GO:0033690)2.64692693
125Golgi transport vesicle coating (GO:0048200)2.64572257
126COPI coating of Golgi vesicle (GO:0048205)2.64572257

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human7.08085171
2TP63_17297297_ChIP-ChIP_HaCaT_Human6.05741233
3* RARG_19884340_ChIP-ChIP_MEFs_Mouse5.52462930
4* PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse4.03836896
5CLOCK_20551151_ChIP-Seq_293T_Human3.55623731
6* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse3.48403610
7TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human3.31264975
8THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse3.00343542
9CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse2.92592083
10NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.84064987
11TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.79003989
12CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse2.70954771
13CJUN_26792858_Chip-Seq_BT549_Human2.46916083
14ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.38299033
15HIF1A_21447827_ChIP-Seq_MCF-7_Human2.36789090
16EGR1_19374776_ChIP-ChIP_THP-1_Human2.28565824
17BRD4_25478319_ChIP-Seq_HGPS_Human2.27369858
18WT1_19549856_ChIP-ChIP_CCG9911_Human2.26249957
19ELK3_25401928_ChIP-Seq_HUVEC_Human2.15320004
20* WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse2.13474236
21EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.07905326
22NANOG_18700969_ChIP-ChIP_MESCs_Mouse2.05232044
23SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.00393469
24TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.96396397
25EP300_21415370_ChIP-Seq_HL-1_Mouse1.93130974
26SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.92806095
27PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.90712405
28ESR1_21235772_ChIP-Seq_MCF-7_Human1.85881998
29SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.80434956
30TP53_20018659_ChIP-ChIP_R1E_Mouse1.77071055
31ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.75178050
32SMC1_22415368_ChIP-Seq_MEFs_Mouse1.71918440
33SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.68535540
34NRF2_20460467_ChIP-Seq_MEFs_Mouse1.66873065
35NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.66873065
36TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.65126531
37JARID2_20075857_ChIP-Seq_MESCs_Mouse1.61142603
38SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.59044755
39P300_27058665_Chip-Seq_ZR-75-30cells_Human1.56762344
40ATF3_27146783_Chip-Seq_COLON_Human1.55259206
41ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.55154135
42JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.52624888
43SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.50362955
44SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.50362955
45TP53_22127205_ChIP-Seq_IMR90_Human1.50121073
46ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.49138364
47UBF1/2_26484160_Chip-Seq_HMECs_Human1.48380921
48TP53_23651856_ChIP-Seq_MEFs_Mouse1.47739164
49HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.47700563
50PPAR_26484153_Chip-Seq_NCI-H1993_Human1.46780373
51* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.45926743
52UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.45361359
53MTF2_20144788_ChIP-Seq_MESCs_Mouse1.41770498
54MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.41553127
55* KDM2B_26808549_Chip-Seq_K562_Human1.41454252
56SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.40384348
57ERG_21242973_ChIP-ChIP_JURKAT_Human1.39936944
58RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.39746265
59JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.39193787
60CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.38246970
61EED_16625203_ChIP-ChIP_MESCs_Mouse1.37070530
62TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.36692559
63HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.35484055
64* NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.35287420
65* EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.35094188
66RACK7_27058665_Chip-Seq_MCF-7_Human1.33346070
67ESR2_21235772_ChIP-Seq_MCF-7_Human1.33004234
68EZH2_27304074_Chip-Seq_ESCs_Mouse1.32905024
69TBX20_22328084_ChIP-Seq_HEART_Mouse1.30011802
70TBX20_22080862_ChIP-Seq_HEART_Mouse1.30011802
71SMC3_22415368_ChIP-Seq_MEFs_Mouse1.29420899
72* MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.29196717
73ESR1_15608294_ChIP-ChIP_MCF-7_Human1.28871055
74RNF2_27304074_Chip-Seq_ESCs_Mouse1.25194932
75TP53_18474530_ChIP-ChIP_U2OS_Human1.24851378
76SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.24052425
77* SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.20492007
78RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.20331690
79* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.19795314
80* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.19062568
81SOX9_24532713_ChIP-Seq_HFSC_Mouse1.17933271
82RBPJ_22232070_ChIP-Seq_NCS_Mouse1.17241787
83SA1_22415368_ChIP-Seq_MEFs_Mouse1.16850457
84SALL4_18804426_ChIP-ChIP_XEN_Mouse1.16692226
85TCF3_18692474_ChIP-Seq_MEFs_Mouse1.16162393
86NFIB_24661679_ChIP-Seq_LUNG_Mouse1.15539619
87RAD21_21589869_ChIP-Seq_MESCs_Mouse1.14687986
88SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.14598390
89DNAJC2_21179169_ChIP-ChIP_NT2_Human1.13625612
90LXR_22292898_ChIP-Seq_THP-1_Human1.13272436
91* KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.12978411
92SOX2_20726797_ChIP-Seq_SW620_Human1.11582762
93* KDM2B_26808549_Chip-Seq_SUP-B15_Human1.10605507
94P63_26484246_Chip-Seq_KERATINOCYTES_Human1.09897468
95TET1_21490601_ChIP-Seq_MESCs_Mouse1.09186996
96KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.06083751
97KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.06083751
98KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.06083751
99SUZ12_27294783_Chip-Seq_ESCs_Mouse1.06034553
100JARID2_20064375_ChIP-Seq_MESCs_Mouse1.06022478
101DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.04738107
102KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.04620389
103* TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.03131122
104ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.02277389
105TP53_16413492_ChIP-PET_HCT116_Human1.02249414
106NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.02179819
107FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.01968626
108ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.01644877
109EZH2_27294783_Chip-Seq_ESCs_Mouse1.01397263
110SA1_27219007_Chip-Seq_ERYTHROID_Human1.00791997
111ZFP281_27345836_Chip-Seq_ESCs_Mouse1.00428200
112ISL1_27105846_Chip-Seq_CPCs_Mouse1.00007953
113POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.99662093
114SMAD_19615063_ChIP-ChIP_OVARY_Human0.98513472
115TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.98232394
116* KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.97809253
117* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.97766450
118CTCF_27219007_Chip-Seq_Bcells_Human0.97666227
119PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.97139680
120RING1B_27294783_Chip-Seq_ESCs_Mouse0.96518468
121RNF2_18974828_ChIP-Seq_MESCs_Mouse0.94635906
122EZH2_18974828_ChIP-Seq_MESCs_Mouse0.94635906
123PHC1_16625203_ChIP-ChIP_MESCs_Mouse0.94064360
124* KDM2B_26808549_Chip-Seq_DND41_Human0.92771762
125* KDM2B_26808549_Chip-Seq_JURKAT_Human0.92590292
126TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.91953337
127STAT6_21828071_ChIP-Seq_BEAS2B_Human0.91198136
128NFI_21473784_ChIP-Seq_ESCs_Mouse0.90666832
129* STAT3_1855785_ChIP-Seq_MESCs_Mouse0.88443987
130GATA4_21415370_ChIP-Seq_HL-1_Mouse0.87429390
131FOXO3_23340844_ChIP-Seq_DLD1_Human0.87064426
132NANOG_16153702_ChIP-ChIP_HESCs_Human0.85023958
133KLF5_25053715_ChIP-Seq_YYC3_Human0.85012134

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen8.73346291
2MP0005275_abnormal_skin_tensile5.64811290
3* MP0005503_abnormal_tendon_morphology5.62524575
4MP0003705_abnormal_hypodermis_morpholog4.29154987
5MP0003279_aneurysm3.87651416
6MP0001958_emphysema3.43509985
7MP0004272_abnormal_basement_membrane2.79132658
8MP0005623_abnormal_meninges_morphology2.75564178
9MP0009384_cardiac_valve_regurgitation2.50272239
10MP0005257_abnormal_intraocular_pressure2.35839201
11* MP0005508_abnormal_skeleton_morphology2.29216203
12MP0006054_spinal_hemorrhage2.25710251
13MP0010030_abnormal_orbit_morphology2.08329476
14MP0002060_abnormal_skin_morphology2.03627118
15MP0005023_abnormal_wound_healing1.92231660
16MP0003566_abnormal_cell_adhesion1.90996538
17* MP0002108_abnormal_muscle_morphology1.79403089
18MP0002295_abnormal_pulmonary_circulatio1.76088040
19MP0009250_abnormal_appendicular_skeleto1.70714767
20MP0003385_abnormal_body_wall1.70152709
21MP0001542_abnormal_bone_strength1.64034392
22MP0003091_abnormal_cell_migration1.58552053
23MP0003283_abnormal_digestive_organ1.56293785
24MP0004858_abnormal_nervous_system1.55664353
25MP0000733_abnormal_muscle_development1.54366079
26MP0001243_abnormal_dermal_layer1.49551976
27MP0000751_myopathy1.47570529
28MP0002896_abnormal_bone_mineralization1.44457823
29MP0010352_gastrointestinal_tract_polyps1.43583176
30MP0002933_joint_inflammation1.36949851
31MP0002877_abnormal_melanocyte_morpholog1.32401318
32MP0010368_abnormal_lymphatic_system1.29830854
33MP0004134_abnormal_chest_morphology1.27645948
34MP0002282_abnormal_trachea_morphology1.24719048
35MP0001849_ear_inflammation1.24233080
36MP0000767_abnormal_smooth_muscle1.24211585
37* MP0005390_skeleton_phenotype1.22213492
38MP0000163_abnormal_cartilage_morphology1.21621414
39MP0000534_abnormal_ureter_morphology1.20869184
40MP0003942_abnormal_urinary_system1.20404283
41MP0002932_abnormal_joint_morphology1.18375122
42MP0001299_abnormal_eye_distance/1.17887956
43MP0000013_abnormal_adipose_tissue1.17867072
44MP0000428_abnormal_craniofacial_morphol1.17773183
45MP0000750_abnormal_muscle_regeneration1.15818506
46* MP0002115_abnormal_skeleton_extremities1.12599030
47MP0003115_abnormal_respiratory_system1.09044776
48MP0002168_other_aberrant_phenotype1.06602132
49MP0003045_fibrosis1.01970276
50MP0009053_abnormal_anal_canal0.99834439
51MP0002249_abnormal_larynx_morphology0.99709886
52MP0002113_abnormal_skeleton_development0.99141896
53MP0009780_abnormal_chondrocyte_physiolo0.98872248
54MP0005076_abnormal_cell_differentiation0.96453298
55MP0000049_abnormal_middle_ear0.95951388
56MP0003755_abnormal_palate_morphology0.95389919
57MP0002089_abnormal_postnatal_growth/wei0.95272769
58MP0003941_abnormal_skin_development0.89314558
59MP0005058_abnormal_lysosome_morphology0.89047581
60MP0000749_muscle_degeneration0.87300070
61MP0002998_abnormal_bone_remodeling0.85731499
62MP0000759_abnormal_skeletal_muscle0.85600154
63MP0010386_abnormal_urinary_bladder0.84884308
64MP0001879_abnormal_lymphatic_vessel0.84242626
65MP0001348_abnormal_lacrimal_gland0.83381996
66MP0000003_abnormal_adipose_tissue0.82470640
67MP0004233_abnormal_muscle_weight0.81469452
68MP0002128_abnormal_blood_circulation0.81455065
69MP0000432_abnormal_head_morphology0.78591757
70MP0002116_abnormal_craniofacial_bone0.78546709
71MP0001614_abnormal_blood_vessel0.77292985
72MP0003935_abnormal_craniofacial_develop0.76009362
73MP0005171_absent_coat_pigmentation0.75250515
74MP0002111_abnormal_tail_morphology0.74568673
75MP0004087_abnormal_muscle_fiber0.74374736
76* MP0002109_abnormal_limb_morphology0.74079545
77MP0004084_abnormal_cardiac_muscle0.73428520
78MP0002254_reproductive_system_inflammat0.71472272
79MP0000462_abnormal_digestive_system0.71191080
80MP0005595_abnormal_vascular_smooth0.71088908
81MP0000762_abnormal_tongue_morphology0.69650694
82MP0001175_abnormal_lung_morphology0.69563895
83* MP0003795_abnormal_bone_structure0.69343329
84MP0003950_abnormal_plasma_membrane0.68065889
85MP0002233_abnormal_nose_morphology0.67889750
86MP0002114_abnormal_axial_skeleton0.67423084
87MP0002925_abnormal_cardiovascular_devel0.67271377
88MP0003937_abnormal_limbs/digits/tail_de0.66421924
89MP0003448_altered_tumor_morphology0.65897831
90* MP0005369_muscle_phenotype0.64564311
91MP0000858_altered_metastatic_potential0.64404729
92MP0000516_abnormal_urinary_system0.64346786
93MP0005367_renal/urinary_system_phenotyp0.64346786
94MP0005197_abnormal_uvea_morphology0.63902317
95MP0005164_abnormal_response_to0.63712009
96MP0001661_extended_life_span0.61873120
97MP0004883_abnormal_blood_vessel0.61833164
98MP0001915_intracranial_hemorrhage0.60962214
99MP0004197_abnormal_fetal_growth/weight/0.60894262
100MP0005388_respiratory_system_phenotype0.60880999
101MP0002133_abnormal_respiratory_system0.60880999
102MP0001270_distended_abdomen0.60298544
103MP0009278_abnormal_bone_marrow0.59671245
104MP0005193_abnormal_anterior_eye0.59621105
105MP0000538_abnormal_urinary_bladder0.58732962
106MP0002697_abnormal_eye_size0.57283396
107MP0000537_abnormal_urethra_morphology0.56485613
108MP0002837_dystrophic_cardiac_calcinosis0.56367774
109MP0005330_cardiomyopathy0.56259548
110MP0000681_abnormal_thyroid_gland0.55197578
111MP0000343_altered_response_to0.54946015
112MP0009840_abnormal_foam_cell0.54470986
113MP0006138_congestive_heart_failure0.52946590
114MP0000467_abnormal_esophagus_morphology0.44646364
115MP0003329_amyloid_beta_deposits0.43506810
116MP0005375_adipose_tissue_phenotype0.40072671

Predicted human phenotypes

RankGene SetZ-score
1Protrusio acetabuli (HP:0003179)9.65103543
2Premature rupture of membranes (HP:0001788)8.14715815
3Ankle contracture (HP:0006466)5.76390459
4Shallow orbits (HP:0000586)4.80252179
5Soft skin (HP:0000977)4.78923941
6Aortic dissection (HP:0002647)4.73572614
7Broad metatarsal (HP:0001783)4.57280510
8Peritonitis (HP:0002586)4.43795126
9Abnormality of dentin (HP:0010299)4.37756171
10Neonatal short-limb short stature (HP:0008921)4.34709034
11Bladder diverticulum (HP:0000015)4.28017772
12Vertebral compression fractures (HP:0002953)4.27069330
13Atrophic scars (HP:0001075)4.25244687
14Cervical subluxation (HP:0003308)4.23752763
15Follicular hyperkeratosis (HP:0007502)4.13510010
16Type 1 muscle fiber predominance (HP:0003803)4.02180037
17Aortic aneurysm (HP:0004942)4.00152762
18Biconcave vertebral bodies (HP:0004586)3.94182766
19Cerebral aneurysm (HP:0004944)3.93447253
20Spinal rigidity (HP:0003306)3.82024757
21Dilatation of the ascending aorta (HP:0005111)3.79972511
22Fragile skin (HP:0001030)3.79474226
23Wormian bones (HP:0002645)3.63755427
24Wrist flexion contracture (HP:0001239)3.63124961
25Genu recurvatum (HP:0002816)3.53727483
26Blue sclerae (HP:0000592)3.48065271
27Increased connective tissue (HP:0009025)3.37201742
28Slender build (HP:0001533)3.19708454
29Mitral valve prolapse (HP:0001634)3.13323596
30Bowel diverticulosis (HP:0005222)2.97894025
31Vascular tortuosity (HP:0004948)2.94032666
32Abnormality of the acetabulum (HP:0003170)2.86016313
33Hyperextensible skin (HP:0000974)2.82007462
34Abnormal delivery (HP:0001787)2.79491851
35Mildly elevated creatine phosphokinase (HP:0008180)2.74789493
36Increased variability in muscle fiber diameter (HP:0003557)2.68755913
37Overgrowth (HP:0001548)2.61317803
38Elbow flexion contracture (HP:0002987)2.57237449
39Breech presentation (HP:0001623)2.56968950
40Joint laxity (HP:0001388)2.53934932
41Turricephaly (HP:0000262)2.41933093
42Aneurysm (HP:0002617)2.40757776
43Arterial tortuosity (HP:0005116)2.39081496
44Abnormality of skeletal muscle fiber size (HP:0012084)2.37400105
45Thin bony cortex (HP:0002753)2.34883820
46Wide anterior fontanel (HP:0000260)2.33870500
47Ulnar bowing (HP:0003031)2.31382716
48Infantile muscular hypotonia (HP:0008947)2.28932625
49Round ear (HP:0100830)2.28920595
50Aortic valve stenosis (HP:0001650)2.27864094
51Coxa vara (HP:0002812)2.26981181
52Deviation of the hallux (HP:0010051)2.26737056
53Long toe (HP:0010511)2.22308488
54Mild short stature (HP:0003502)2.22158363
55Camptodactyly of toe (HP:0001836)2.21682100
56Ectopia lentis (HP:0001083)2.19340002
57Mitral regurgitation (HP:0001653)2.19101866
58Hallux valgus (HP:0001822)2.18070204
59Osteolytic defects of the phalanges of the hand (HP:0009771)2.17225585
60Osteolytic defects of the hand bones (HP:0009699)2.17225585
61Flat cornea (HP:0007720)2.16380225
62Mesomelia (HP:0003027)2.16304687
63Bell-shaped thorax (HP:0001591)2.14612098
64Nonimmune hydrops fetalis (HP:0001790)2.13694410
65Spondylolisthesis (HP:0003302)2.12024835
66Broad ribs (HP:0000885)2.09597017
67Generalized amyotrophy (HP:0003700)2.08761236
68Coronal craniosynostosis (HP:0004440)2.07103636
69Osteoarthritis (HP:0002758)2.05689819
70Abnormality of the peritoneum (HP:0002585)2.03599308
71Renal duplication (HP:0000075)2.01945603
72Tibial bowing (HP:0002982)1.98339474
73Limb-girdle muscle weakness (HP:0003325)1.97656417
74Femoral bowing (HP:0002980)1.96863661
75Joint stiffness (HP:0001387)1.96422761
76Knee flexion contracture (HP:0006380)1.94510335
77Achilles tendon contracture (HP:0001771)1.92959242
78Buphthalmos (HP:0000557)1.92493493
79Premature skin wrinkling (HP:0100678)1.92130913
80Osteopenia (HP:0000938)1.91912795
81Enlarged penis (HP:0000040)1.91290329
82Platyspondyly (HP:0000926)1.91230908
83Short nail (HP:0001799)1.90728789
84Redundant skin (HP:0001582)1.89975161
85Deformed tarsal bones (HP:0008119)1.89224113
86Broad long bones (HP:0005622)1.88786245
87Hyperacusis (HP:0010780)1.88477145
88Beaking of vertebral bodies (HP:0004568)1.87249849
89Natal tooth (HP:0000695)1.87078144
90Decreased skull ossification (HP:0004331)1.85758293
91Hip contracture (HP:0003273)1.84624954
92Distal upper limb amyotrophy (HP:0007149)1.83041418
93Upper limb amyotrophy (HP:0009129)1.83041418
94Calcaneovalgus deformity (HP:0001848)1.82844870
95Spinal cord lesions (HP:0100561)1.82694383
96Syringomyelia (HP:0003396)1.82694383
97Inguinal hernia (HP:0000023)1.81442363
98Venous abnormality (HP:0002624)1.80877112
99Protruding ear (HP:0000411)1.80158077
100Abnormality of skull ossification (HP:0002703)1.78219389
101Morphological abnormality of the middle ear (HP:0008609)1.78033664
102Bowing of the arm (HP:0006488)1.77125062
103Bowed forearm bones (HP:0003956)1.77125062
104Striae distensae (HP:0001065)1.76868135
105Narrow nasal bridge (HP:0000446)1.76838497
106Delayed cranial suture closure (HP:0000270)1.76612356
107Delayed closure of the anterior fontanelle (HP:0001476)1.74827497
108Congenital glaucoma (HP:0001087)1.73943334
109Tarsal synostosis (HP:0008368)1.71955038
110Aortic regurgitation (HP:0001659)1.71945760
111Ulnar deviation of the wrist (HP:0003049)1.71300086
112Obstructive sleep apnea (HP:0002870)1.71272865
113Venous insufficiency (HP:0005293)1.70993764
114Hypoventilation (HP:0002791)1.70927258
115Absent frontal sinuses (HP:0002688)1.70710721
116Disproportionate tall stature (HP:0001519)1.70304652
117Slender long bone (HP:0003100)1.69672725
118Abnormality of the Achilles tendon (HP:0005109)1.69361560
119Spinal cord compression (HP:0002176)1.68727766

Predicted kinase interactions (KEA)

RankGene SetZ-score
1DDR25.09731636
2TRIB34.71719189
3PDGFRA3.98019579
4TTN3.81746445
5LATS23.60400312
6ERN13.11727701
7PKN23.08527844
8LATS12.59903030
9SIK12.32185717
10EPHB22.17935815
11TRPM72.01432894
12PAK21.99176779
13BMX1.82463901
14AKT31.76829586
15EPHA31.66042405
16RIPK11.63660856
17PIM21.57186572
18PTK21.54868151
19PAK41.51098681
20FER1.50618824
21MET1.48514031
22TESK11.47976922
23RPS6KA41.43692879
24LRRK21.43443799
25TGFBR21.42322326
26EEF2K1.41150419
27STK38L1.36989948
28PTK61.36266752
29MAP3K61.30920785
30PAK31.28009727
31ILK1.26011017
32STK31.25839195
33SMG11.20595545
34PDGFRB1.20479038
35MOS1.19539809
36MYLK1.19328330
37PTK2B1.17850358
38MAPK71.16913841
39STK381.15692678
40DMPK1.09468327
41FLT31.08975573
42ROCK11.07552507
43RPS6KA21.07119084
44NEK91.06920740
45FGFR11.05954039
46LIMK11.05918225
47MTOR1.04714023
48ERBB41.02135706
49GRK50.92133423
50NME20.86189331
51EPHA20.86119585
52PRKD20.83251054
53DAPK30.82862243
54PIK3CA0.82176468
55MAP3K100.80997231
56EPHB10.80022140
57ERBB30.77439048
58TGFBR10.77164894
59MAP2K10.71655134
60ICK0.70925318
61ROCK20.70768491
62NTRK10.69940537
63RPS6KL10.69126448
64RPS6KC10.69126448
65PAK10.67394008
66CAMK1D0.66157830
67TESK20.64118761
68PRPF4B0.63943294
69GRK70.62723573
70PRKD10.62457113
71MAP3K70.59473265
72MAP3K30.59373552
73PIK3CG0.59369867
74LMTK20.56624378
75ABL20.56342356
76CLK10.54735673
77GSK3A0.53448141
78INSR0.52783514
79MARK20.52552741
80CDK120.52538444
81PLK20.52465148
82CDK70.50377230
83FRK0.50198902
84CDK80.49740641
85RPS6KA60.48961601
86CDC42BPA0.48807378
87RET0.45311569
88MAP2K30.44736949
89PRKD30.43992491
90WNK10.43707801
91PRKCH0.43302107
92SCYL20.42543785
93ZAP700.42421454
94KIT0.42190848
95CDK60.41917204
96FGFR40.41025689
97MAPKAPK30.40897446
98TAOK20.40839246
99ZAK0.39952577
100TYRO30.39589279
101MAP3K80.39120647
102PDK20.39107607
103MAPK40.38488647
104JAK10.38437860
105ADRBK10.36911973
106PAK60.35861757
107SRC0.35827886
108CAMK2G0.35178440
109PDPK10.35027177
110MAPK10.33694705
111DYRK1B0.33579262
112PDK40.33569808
113PDK30.33569808
114MELK0.33283567
115TYK20.32772266
116KSR20.32488085
117CAMKK10.32324604
118MAPKAPK20.32179378
119NEK10.31857439
120ARAF0.31530313
121INSRR0.29893218
122PRKG20.29805080
123HIPK20.29714401
124MAPK120.29472015
125NEK20.29445760
126KDR0.28908301
127FGFR20.28649260
128CDK11A0.27908247
129JAK30.27085613
130STK100.24659852
131TAOK10.24633057
132CAMK1G0.24097578

Predicted pathways (KEGG)

RankGene SetZ-score
1ECM-receptor interaction_Homo sapiens_hsa045124.98025661
2Focal adhesion_Homo sapiens_hsa045103.47532000
3Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005323.21789568
4Protein digestion and absorption_Homo sapiens_hsa049742.88539252
5Bladder cancer_Homo sapiens_hsa052192.52217076
6Proteoglycans in cancer_Homo sapiens_hsa052052.50119849
7AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049332.41641817
8Amoebiasis_Homo sapiens_hsa051462.29547923
9Malaria_Homo sapiens_hsa051442.21161302
10Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054102.18132629
11Adherens junction_Homo sapiens_hsa045202.18118580
12TGF-beta signaling pathway_Homo sapiens_hsa043502.11505834
13Bacterial invasion of epithelial cells_Homo sapiens_hsa051002.09443638
14Dilated cardiomyopathy_Homo sapiens_hsa054142.03480763
15Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.02152919
16Small cell lung cancer_Homo sapiens_hsa052221.96756678
17Basal cell carcinoma_Homo sapiens_hsa052171.89816175
18PI3K-Akt signaling pathway_Homo sapiens_hsa041511.87980494
19Hippo signaling pathway_Homo sapiens_hsa043901.85962693
20MicroRNAs in cancer_Homo sapiens_hsa052061.78563353
21Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.77410998
22Melanoma_Homo sapiens_hsa052181.76388326
23Chronic myeloid leukemia_Homo sapiens_hsa052201.63488528
24p53 signaling pathway_Homo sapiens_hsa041151.62266627
25Hedgehog signaling pathway_Homo sapiens_hsa043401.60899988
26Cyanoamino acid metabolism_Homo sapiens_hsa004601.51463297
27Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.39078143
28Regulation of actin cytoskeleton_Homo sapiens_hsa048101.32489031
29Prion diseases_Homo sapiens_hsa050201.32480161
30Prostate cancer_Homo sapiens_hsa052151.28833008
31Complement and coagulation cascades_Homo sapiens_hsa046101.27182132
32Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.22021014
33Glioma_Homo sapiens_hsa052141.20408045
34Pathways in cancer_Homo sapiens_hsa052001.19114926
35Viral myocarditis_Homo sapiens_hsa054161.17553347
36Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.13102828
37Pancreatic cancer_Homo sapiens_hsa052121.10963581
38HTLV-I infection_Homo sapiens_hsa051661.06456813
39Leukocyte transendothelial migration_Homo sapiens_hsa046701.05985112
40Glycosaminoglycan degradation_Homo sapiens_hsa005311.03872092
41Central carbon metabolism in cancer_Homo sapiens_hsa052301.03382308
42Ovarian steroidogenesis_Homo sapiens_hsa049131.00946614
43Wnt signaling pathway_Homo sapiens_hsa043100.99078058
44Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.97027752
45Tight junction_Homo sapiens_hsa045300.95453745
46cGMP-PKG signaling pathway_Homo sapiens_hsa040220.94405566
47TNF signaling pathway_Homo sapiens_hsa046680.93692736
48Shigellosis_Homo sapiens_hsa051310.92069768
49Rap1 signaling pathway_Homo sapiens_hsa040150.91942658
50HIF-1 signaling pathway_Homo sapiens_hsa040660.91620496
51Vibrio cholerae infection_Homo sapiens_hsa051100.86428478
52Platelet activation_Homo sapiens_hsa046110.83567017
53Viral carcinogenesis_Homo sapiens_hsa052030.80774271
54Toxoplasmosis_Homo sapiens_hsa051450.80761865
55Phagosome_Homo sapiens_hsa041450.77776488
56Apoptosis_Homo sapiens_hsa042100.76088255
57Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.74980172
58Longevity regulating pathway - mammal_Homo sapiens_hsa042110.74701608
59Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.70525244
60Colorectal cancer_Homo sapiens_hsa052100.70500668
61Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.69710769
62Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.68682760
63Axon guidance_Homo sapiens_hsa043600.67895859
64Renin-angiotensin system_Homo sapiens_hsa046140.67878026
65mTOR signaling pathway_Homo sapiens_hsa041500.66753822
66Notch signaling pathway_Homo sapiens_hsa043300.65333438
67Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.65074986
68N-Glycan biosynthesis_Homo sapiens_hsa005100.63261386
69Hepatitis B_Homo sapiens_hsa051610.61890771
70Lysosome_Homo sapiens_hsa041420.61639699
71Cocaine addiction_Homo sapiens_hsa050300.61462327
72Pertussis_Homo sapiens_hsa051330.59841992
73Endometrial cancer_Homo sapiens_hsa052130.58631856
74Insulin resistance_Homo sapiens_hsa049310.58349248
75Melanogenesis_Homo sapiens_hsa049160.57010735
76Cell cycle_Homo sapiens_hsa041100.56863303
77Estrogen signaling pathway_Homo sapiens_hsa049150.55454879
78FoxO signaling pathway_Homo sapiens_hsa040680.54261248
79Renal cell carcinoma_Homo sapiens_hsa052110.53550507
80Sulfur relay system_Homo sapiens_hsa041220.52940754
81AMPK signaling pathway_Homo sapiens_hsa041520.51992123
82Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.51915470
83Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.49513432
84Thyroid hormone synthesis_Homo sapiens_hsa049180.49347120
85Choline metabolism in cancer_Homo sapiens_hsa052310.48878317
86Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.48794115
87Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.48670195
88Lysine degradation_Homo sapiens_hsa003100.48506084
89Other glycan degradation_Homo sapiens_hsa005110.48379917
90Gap junction_Homo sapiens_hsa045400.48086117
91Pentose phosphate pathway_Homo sapiens_hsa000300.47453706
92Ras signaling pathway_Homo sapiens_hsa040140.47210488
93Thyroid hormone signaling pathway_Homo sapiens_hsa049190.47158628
94Adipocytokine signaling pathway_Homo sapiens_hsa049200.46228286
95Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.45719384
96Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.44706225
97MAPK signaling pathway_Homo sapiens_hsa040100.44288573
98Salmonella infection_Homo sapiens_hsa051320.43033340
99Endocytosis_Homo sapiens_hsa041440.42398243
1002-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.41276959
101Thyroid cancer_Homo sapiens_hsa052160.40247332
102Vascular smooth muscle contraction_Homo sapiens_hsa042700.40074553
103Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.38645781
104Neurotrophin signaling pathway_Homo sapiens_hsa047220.38604166
105Acute myeloid leukemia_Homo sapiens_hsa052210.38068583
106Glutathione metabolism_Homo sapiens_hsa004800.37854948
107Insulin signaling pathway_Homo sapiens_hsa049100.37604173
108Aldosterone synthesis and secretion_Homo sapiens_hsa049250.36494069
109Phospholipase D signaling pathway_Homo sapiens_hsa040720.36295313
110Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.35825123
111VEGF signaling pathway_Homo sapiens_hsa043700.34938321
112Galactose metabolism_Homo sapiens_hsa000520.33818968
113One carbon pool by folate_Homo sapiens_hsa006700.33271743
114GnRH signaling pathway_Homo sapiens_hsa049120.32324876
115Non-small cell lung cancer_Homo sapiens_hsa052230.32217490
116Calcium signaling pathway_Homo sapiens_hsa040200.31432872
117PPAR signaling pathway_Homo sapiens_hsa033200.30656967
118Oxytocin signaling pathway_Homo sapiens_hsa049210.29600070
119Prolactin signaling pathway_Homo sapiens_hsa049170.29569661

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