ADAMTS12

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: This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS-1) motif. Individual members of this family differ in the number of C-terminal TS-1 motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains eight TS-1 motifs. It may play roles in pulmonary cells during fetal development or in tumor processes through its proteolytic activity or as a molecule potentially involved in regulation of cell adhesion. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1protein heterotrimerization (GO:0070208)7.64005262
2collagen fibril organization (GO:0030199)7.29928432
3bone trabecula formation (GO:0060346)5.70902716
4sequestering of extracellular ligand from receptor (GO:0035581)5.68138823
5chondrocyte proliferation (GO:0035988)5.37050335
6collagen metabolic process (GO:0032963)5.13025181
7collagen catabolic process (GO:0030574)5.00780967
8multicellular organismal macromolecule metabolic process (GO:0044259)4.90300410
9extracellular fibril organization (GO:0043206)4.85860614
10endodermal cell differentiation (GO:0035987)4.85721981
11multicellular organismal metabolic process (GO:0044236)4.67110790
12multicellular organismal catabolic process (GO:0044243)4.62028980
13axon extension involved in axon guidance (GO:0048846)4.59950621
14neuron projection extension involved in neuron projection guidance (GO:1902284)4.59950621
15fibril organization (GO:0097435)4.33408983
16basement membrane organization (GO:0071711)4.23599172
17skin morphogenesis (GO:0043589)4.18086440
18glomerular filtration (GO:0003094)4.15321716
19retina vasculature morphogenesis in camera-type eye (GO:0061299)4.15306006
20extracellular matrix disassembly (GO:0022617)4.14648515
21negative regulation of fatty acid transport (GO:2000192)4.12197743
22positive regulation of endothelial cell apoptotic process (GO:2000353)4.10924541
23mesodermal cell differentiation (GO:0048333)4.09638878
24cell adhesion mediated by integrin (GO:0033627)4.07368978
25extracellular matrix assembly (GO:0085029)4.04306265
26glomerular basement membrane development (GO:0032836)4.02960251
27mesenchymal-epithelial cell signaling (GO:0060638)3.94388938
28cartilage development involved in endochondral bone morphogenesis (GO:0060351)3.91848950
29insulin-like growth factor receptor signaling pathway (GO:0048009)3.88728418
30regulation of transforming growth factor beta2 production (GO:0032909)3.87070243
31renal filtration (GO:0097205)3.71917019
32metanephric mesenchyme development (GO:0072075)3.69533728
33chondrocyte development (GO:0002063)3.68337005
34craniofacial suture morphogenesis (GO:0097094)3.67751371
35dermatan sulfate biosynthetic process (GO:0030208)3.66596400
36kidney mesenchyme development (GO:0072074)3.62976440
37hippo signaling (GO:0035329)3.50797263
38cellular response to vitamin (GO:0071295)3.47790507
39planar cell polarity pathway involved in neural tube closure (GO:0090179)3.39049592
40wound healing, spreading of epidermal cells (GO:0035313)3.38270799
41positive regulation of fatty acid beta-oxidation (GO:0032000)3.35458715
42pericardium development (GO:0060039)3.34246431
43vascular endothelial growth factor signaling pathway (GO:0038084)3.33591278
44G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071993.30675125
45dermatan sulfate metabolic process (GO:0030205)3.30500038
46heparan sulfate proteoglycan biosynthetic process (GO:0015012)3.24820471
47regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.24677436
48Wnt signaling pathway, planar cell polarity pathway (GO:0060071)3.24154745
49apoptotic cell clearance (GO:0043277)3.24073492
50Golgi transport vesicle coating (GO:0048200)3.22768904
51COPI coating of Golgi vesicle (GO:0048205)3.22768904
52extracellular matrix organization (GO:0030198)3.19344019
53positive regulation of osteoblast proliferation (GO:0033690)3.18010427
54extracellular structure organization (GO:0043062)3.17992551
55negative regulation of smooth muscle cell migration (GO:0014912)3.17845408
56extracellular regulation of signal transduction (GO:1900115)3.14548742
57extracellular negative regulation of signal transduction (GO:1900116)3.14548742
58regulation of establishment of planar polarity (GO:0090175)3.13786842
59regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)3.13377874
60positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)3.10224997
61convergent extension (GO:0060026)3.10031851
62cell proliferation involved in metanephros development (GO:0072203)3.09531355
63positive regulation of fatty acid oxidation (GO:0046321)3.08617340
64negative regulation of embryonic development (GO:0045992)3.08597684
65positive regulation of glycogen biosynthetic process (GO:0045725)3.07787875
66negative regulation of catenin import into nucleus (GO:0035414)3.04695081
67plasma membrane repair (GO:0001778)3.04302999
68endothelial cell morphogenesis (GO:0001886)3.03682716
69positive regulation of epithelial to mesenchymal transition (GO:0010718)3.02231615
70outer ear morphogenesis (GO:0042473)2.98397479
71cell-substrate junction assembly (GO:0007044)2.97439433
72positive regulation of blood vessel endothelial cell migration (GO:0043536)2.96746532
73notochord development (GO:0030903)2.95911188
74regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.95451788
75* regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.95451788
76lymphangiogenesis (GO:0001946)2.94171889
77low-density lipoprotein particle clearance (GO:0034383)2.93717123
78positive regulation of mesenchymal cell proliferation (GO:0002053)2.93337068
79blood vessel maturation (GO:0001955)2.93138342
80endocardial cushion development (GO:0003197)2.92610086
81* negative regulation of chondrocyte differentiation (GO:0032331)2.92591280
82regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition 2.91668593
83regulation of cardioblast differentiation (GO:0051890)2.89957806
84regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)2.89525893
85venous blood vessel morphogenesis (GO:0048845)2.89317132
86substrate-dependent cell migration (GO:0006929)2.88972586
87peptidyl-proline hydroxylation (GO:0019511)2.88414539
88keratan sulfate catabolic process (GO:0042340)2.88092285
89white fat cell differentiation (GO:0050872)2.87549779
90positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr2.86699631
91maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.86588902
92muscle cell migration (GO:0014812)2.84868120
93negative regulation of axon extension involved in axon guidance (GO:0048843)2.83513897
94protein retention in ER lumen (GO:0006621)2.83511692
95cranial suture morphogenesis (GO:0060363)2.83345448
96sprouting angiogenesis (GO:0002040)2.82694661
97regulation of osteoblast proliferation (GO:0033688)2.82473476
98substrate adhesion-dependent cell spreading (GO:0034446)2.82195777
99regulation of gastrulation (GO:0010470)2.81085849
100paraxial mesoderm development (GO:0048339)2.80168328
101epithelial cell-cell adhesion (GO:0090136)2.79625479
102non-canonical Wnt signaling pathway (GO:0035567)2.78151220
103embryonic cranial skeleton morphogenesis (GO:0048701)2.77109918
104regulation of mesenchymal cell proliferation (GO:0010464)2.76597756
105cellular response to amino acid stimulus (GO:0071230)2.76531279
106regulation of plasminogen activation (GO:0010755)2.76359184
107eye morphogenesis (GO:0048592)2.74589001
108trabecula formation (GO:0060343)2.74049174
109anatomical structure regression (GO:0060033)2.73895261
110regulation of branching involved in salivary gland morphogenesis (GO:0060693)2.72628137
111type B pancreatic cell proliferation (GO:0044342)2.72160065
112cell migration involved in heart development (GO:0060973)2.71656768
113cochlea morphogenesis (GO:0090103)2.71193983
114protein localization to cell surface (GO:0034394)2.69903066
115peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)2.69635337
116camera-type eye morphogenesis (GO:0048593)2.69257123
117cellular response to vitamin D (GO:0071305)2.69175056
118chondroitin sulfate biosynthetic process (GO:0030206)2.68236639
119negative regulation of osteoblast proliferation (GO:0033689)2.67405386
120stress fiber assembly (GO:0043149)2.67360182
121protein hydroxylation (GO:0018126)2.66624323
122smooth muscle tissue development (GO:0048745)2.66458385
123embryonic retina morphogenesis in camera-type eye (GO:0060059)2.65831283
124myelination in peripheral nervous system (GO:0022011)2.65491279
125peripheral nervous system axon ensheathment (GO:0032292)2.65491279
126* negative regulation of cartilage development (GO:0061037)2.64965415
127negative chemotaxis (GO:0050919)2.64099311
128glial cell migration (GO:0008347)2.64053540
129* cell-matrix adhesion (GO:0007160)2.63277022
130cell migration involved in sprouting angiogenesis (GO:0002042)2.62780959
131regulation of fatty acid beta-oxidation (GO:0031998)2.62479172
132wound healing, spreading of cells (GO:0044319)2.61801654
133regulation of SMAD protein import into nucleus (GO:0060390)2.61046384
134blood vessel endothelial cell migration (GO:0043534)2.59965416
135COPII vesicle coating (GO:0048208)2.59207776
136atrioventricular valve morphogenesis (GO:0003181)2.58932378
137establishment of planar polarity (GO:0001736)2.58909949
138establishment of tissue polarity (GO:0007164)2.58909949

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human6.64208531
2TP63_17297297_ChIP-ChIP_HaCaT_Human4.59001410
3PPARG_19300518_ChIP-PET_3T3-L1_Mouse3.72276967
4RARG_19884340_ChIP-ChIP_MEFs_Mouse3.58691835
5RBPJ_22232070_ChIP-Seq_NCS_Mouse3.49118543
6PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse3.47154699
7CLOCK_20551151_ChIP-Seq_293T_Human3.40291811
8ESR1_22446102_ChIP-Seq_UTERUS_Mouse3.01669379
9* CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse2.86109376
10NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.65222577
11WT1_19549856_ChIP-ChIP_CCG9911_Human2.64010366
12* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.54485086
13CJUN_26792858_Chip-Seq_BT549_Human2.46317436
14* CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse2.44930587
15RUNX2_24764292_ChIP-Seq_MC3T3_Mouse2.43058733
16EP300_21415370_ChIP-Seq_HL-1_Mouse2.30522913
17TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.25514434
18EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.23099213
19* BRD4_25478319_ChIP-Seq_HGPS_Human2.21547228
20WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse2.17187677
21NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.94286455
22NRF2_20460467_ChIP-Seq_MEFs_Mouse1.94286455
23CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.93366981
24HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.89093106
25HIF1A_21447827_ChIP-Seq_MCF-7_Human1.87806824
26CDX2_19796622_ChIP-Seq_MESCs_Mouse1.86040194
27SMAD_19615063_ChIP-ChIP_OVARY_Human1.80862212
28EED_16625203_ChIP-ChIP_MESCs_Mouse1.75258099
29PPAR_26484153_Chip-Seq_NCI-H1993_Human1.74922105
30EGR1_19374776_ChIP-ChIP_THP-1_Human1.66819504
31RNF2_18974828_ChIP-Seq_MESCs_Mouse1.63869888
32EZH2_18974828_ChIP-Seq_MESCs_Mouse1.63869888
33TP53_18474530_ChIP-ChIP_U2OS_Human1.58453090
34SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.54703813
35TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.54459802
36POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.54064173
37SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.47650325
38RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.47629031
39STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.45978053
40* ISL1_27105846_Chip-Seq_CPCs_Mouse1.42860718
41TP53_16413492_ChIP-PET_HCT116_Human1.40800648
42* PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.39262395
43PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.38421970
44ZNF217_24962896_ChIP-Seq_MCF-7_Human1.38279995
45TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.37812819
46SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.37477014
47P300_27058665_Chip-Seq_ZR-75-30cells_Human1.37242493
48TP53_20018659_ChIP-ChIP_R1E_Mouse1.37182379
49RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.35477442
50SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.35149532
51SOX9_24532713_ChIP-Seq_HFSC_Mouse1.34799748
52TBX3_20139965_ChIP-Seq_ESCs_Mouse1.33911359
53TBX3_20139965_ChIP-Seq_MESCs_Mouse1.33615583
54SALL1_21062744_ChIP-ChIP_HESCs_Human1.31357781
55DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.31185777
56TBX20_22080862_ChIP-Seq_HEART_Mouse1.30811238
57TBX20_22328084_ChIP-Seq_HEART_Mouse1.30811238
58SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.30617956
59SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.29956902
60SALL4_18804426_ChIP-ChIP_XEN_Mouse1.29625611
61ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.29597066
62SMC1_22415368_ChIP-Seq_MEFs_Mouse1.29352668
63TP53_22127205_ChIP-Seq_IMR90_Human1.29204129
64SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.27736783
65SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.26698148
66AR_21909140_ChIP-Seq_LNCAP_Human1.25603148
67ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.24570131
68ELK3_25401928_ChIP-Seq_HUVEC_Human1.24131831
69UBF1/2_26484160_Chip-Seq_HMECs_Human1.23482563
70ESR2_21235772_ChIP-Seq_MCF-7_Human1.23001743
71PPARG_20887899_ChIP-Seq_3T3-L1_Mouse1.22750491
72SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.22437842
73SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.22437842
74FOXO3_23340844_ChIP-Seq_DLD1_Human1.19355612
75ESR1_21235772_ChIP-Seq_MCF-7_Human1.19071470
76TCF3_18692474_ChIP-Seq_MEFs_Mouse1.17670398
77FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.17651903
78BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.17351307
79ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.15476237
80ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.15318234
81JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.14564543
82JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.14283221
83AR_21572438_ChIP-Seq_LNCaP_Human1.14045496
84MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.13538888
85NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.13396955
86GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.13123416
87ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.12276205
88WT1_25993318_ChIP-Seq_PODOCYTE_Human1.12009424
89TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.11515790
90TCF4_18268006_ChIP-ChIP_LS174T_Human1.11291405
91NFIB_24661679_ChIP-Seq_LUNG_Mouse1.09727266
92GBX2_23144817_ChIP-Seq_PC3_Human1.09302980
93PIAS1_25552417_ChIP-Seq_VCAP_Human1.07088899
94EZH2_27304074_Chip-Seq_ESCs_Mouse1.06347509
95OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.04712821
96NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.04083964
97SOX2_20726797_ChIP-Seq_SW620_Human1.03197523
98TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.03103717
99TP53_23651856_ChIP-Seq_MEFs_Mouse1.02968134
100KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.02346068
101JARID2_20075857_ChIP-Seq_MESCs_Mouse1.01775973
102SA1_22415368_ChIP-Seq_MEFs_Mouse1.01080795
103SMC3_22415368_ChIP-Seq_MEFs_Mouse1.00794038
104ESR1_20079471_ChIP-ChIP_T-47D_Human1.00107688
105GATA2_21666600_ChIP-Seq_HMVEC_Human0.99254527
106FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.98236671
107NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.97797118
108FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human0.97647436
109YAP1_20516196_ChIP-Seq_MESCs_Mouse0.96542117
110ZFP281_18757296_ChIP-ChIP_E14_Mouse0.96000945
111FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.95793051
112EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.94698159
113ESR1_15608294_ChIP-ChIP_MCF-7_Human0.94202453
114HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.93554314
115PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.93301298
116RNF2_27304074_Chip-Seq_ESCs_Mouse0.93053542
117RXR_22108803_ChIP-Seq_LS180_Human0.92435814
118STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.92264288
119BCAT_22108803_ChIP-Seq_LS180_Human0.91593873
120NFI_21473784_ChIP-Seq_ESCs_Mouse0.91398774
121SOX9_26525672_Chip-Seq_HEART_Mouse0.91333999
122SOX2_18358816_ChIP-ChIP_MESCs_Mouse0.91332819
123* CTNNB1_20460455_ChIP-Seq_HCT116_Human0.90738467
124SMAD3_21741376_ChIP-Seq_HESCs_Human0.90484328
125KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.90123544
126CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.86937257

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen8.91689112
2MP0005275_abnormal_skin_tensile5.90281467
3MP0005503_abnormal_tendon_morphology5.39909033
4MP0003705_abnormal_hypodermis_morpholog3.83344226
5MP0004272_abnormal_basement_membrane3.54781895
6MP0003279_aneurysm3.19077024
7MP0001958_emphysema2.89008622
8MP0005623_abnormal_meninges_morphology2.51231079
9MP0003950_abnormal_plasma_membrane2.31666819
10MP0002060_abnormal_skin_morphology2.10793828
11MP0005508_abnormal_skeleton_morphology2.08009013
12MP0005257_abnormal_intraocular_pressure2.06848584
13MP0002108_abnormal_muscle_morphology2.05808616
14MP0009384_cardiac_valve_regurgitation2.03478175
15MP0006054_spinal_hemorrhage1.98422280
16MP0009250_abnormal_appendicular_skeleto1.78363585
17MP0003566_abnormal_cell_adhesion1.77823799
18MP0003385_abnormal_body_wall1.71476984
19MP0000013_abnormal_adipose_tissue1.62873887
20MP0002295_abnormal_pulmonary_circulatio1.62029841
21MP0010352_gastrointestinal_tract_polyps1.60890268
22MP0005670_abnormal_white_adipose1.58693788
23MP0000751_myopathy1.56206555
24MP0000733_abnormal_muscle_development1.47396119
25MP0005171_absent_coat_pigmentation1.47371762
26MP0004134_abnormal_chest_morphology1.45025368
27MP0010030_abnormal_orbit_morphology1.36088927
28MP0002896_abnormal_bone_mineralization1.35468509
29MP0002282_abnormal_trachea_morphology1.33703916
30MP0001243_abnormal_dermal_layer1.31938166
31MP0000003_abnormal_adipose_tissue1.31011155
32MP0009053_abnormal_anal_canal1.28831009
33MP0003942_abnormal_urinary_system1.27944975
34MP0003091_abnormal_cell_migration1.26576239
35MP0005023_abnormal_wound_healing1.24726338
36MP0001299_abnormal_eye_distance/1.24292881
37MP0005666_abnormal_adipose_tissue1.22074454
38MP0000534_abnormal_ureter_morphology1.21129266
39MP0004185_abnormal_adipocyte_glucose1.18085640
40MP0005375_adipose_tissue_phenotype1.17760563
41MP0003115_abnormal_respiratory_system1.16248071
42MP0000767_abnormal_smooth_muscle1.15997012
43MP0000163_abnormal_cartilage_morphology1.15450161
44MP0000749_muscle_degeneration1.15352613
45MP0003045_fibrosis1.15208241
46MP0002932_abnormal_joint_morphology1.14453937
47MP0005076_abnormal_cell_differentiation1.12348858
48MP0000428_abnormal_craniofacial_morphol1.11453927
49MP0002168_other_aberrant_phenotype1.10821728
50MP0000462_abnormal_digestive_system1.09989706
51MP0005390_skeleton_phenotype1.09901819
52MP0002115_abnormal_skeleton_extremities1.09539894
53MP0000750_abnormal_muscle_regeneration1.09162595
54MP0003122_maternal_imprinting1.08066376
55MP0005197_abnormal_uvea_morphology1.05241876
56MP0003283_abnormal_digestive_organ1.05207861
57MP0002249_abnormal_larynx_morphology1.04076209
58MP0001542_abnormal_bone_strength1.03564369
59MP0004130_abnormal_muscle_cell1.02419490
60MP0010368_abnormal_lymphatic_system1.01520099
61MP0003941_abnormal_skin_development1.01286886
62MP0003755_abnormal_palate_morphology0.95715767
63MP0002113_abnormal_skeleton_development0.93331226
64MP0003935_abnormal_craniofacial_develop0.93051957
65MP0004858_abnormal_nervous_system0.92315998
66MP0002837_dystrophic_cardiac_calcinosis0.92290859
67MP0001915_intracranial_hemorrhage0.90312196
68MP0006138_congestive_heart_failure0.87049297
69MP0002089_abnormal_postnatal_growth/wei0.85834661
70MP0001879_abnormal_lymphatic_vessel0.84712235
71MP0001348_abnormal_lacrimal_gland0.84316541
72MP0010386_abnormal_urinary_bladder0.83533663
73MP0002109_abnormal_limb_morphology0.82608445
74MP0002938_white_spotting0.82218626
75MP0000432_abnormal_head_morphology0.81991517
76MP0002128_abnormal_blood_circulation0.81914944
77MP0009780_abnormal_chondrocyte_physiolo0.81258211
78MP0000759_abnormal_skeletal_muscle0.81116810
79MP0005193_abnormal_anterior_eye0.81040156
80MP0001849_ear_inflammation0.80467068
81MP0002877_abnormal_melanocyte_morpholog0.80220075
82MP0002233_abnormal_nose_morphology0.80093807
83MP0004087_abnormal_muscle_fiber0.79543539
84MP0000049_abnormal_middle_ear0.79031474
85MP0003937_abnormal_limbs/digits/tail_de0.76878923
86MP0002116_abnormal_craniofacial_bone0.76822588
87MP0002111_abnormal_tail_morphology0.76419945
88MP0003300_gastrointestinal_ulcer0.76134288
89* MP0001614_abnormal_blood_vessel0.75476324
90MP0002998_abnormal_bone_remodeling0.75073188
91MP0005367_renal/urinary_system_phenotyp0.74608730
92MP0000516_abnormal_urinary_system0.74608730
93MP0002933_joint_inflammation0.74125306
94MP0002133_abnormal_respiratory_system0.73669657
95MP0005388_respiratory_system_phenotype0.73669657
96MP0002092_abnormal_eye_morphology0.72747693
97MP0001177_atelectasis0.72729582
98MP0001286_abnormal_eye_development0.72665971
99MP0005595_abnormal_vascular_smooth0.72554583
100MP0005369_muscle_phenotype0.71500001
101MP0002166_altered_tumor_susceptibility0.71089778
102MP0004233_abnormal_muscle_weight0.70971312
103MP0000762_abnormal_tongue_morphology0.70494717
104MP0001175_abnormal_lung_morphology0.70056698
105MP0000537_abnormal_urethra_morphology0.68635725
106MP0001661_extended_life_span0.68300837
107MP0002697_abnormal_eye_size0.67017109
108MP0002084_abnormal_developmental_patter0.66982253
109MP0002114_abnormal_axial_skeleton0.66592740
110MP0002085_abnormal_embryonic_tissue0.65086000
111MP0005187_abnormal_penis_morphology0.64813833
112MP0004197_abnormal_fetal_growth/weight/0.64085151
113* MP0002925_abnormal_cardiovascular_devel0.63538348
114MP0004084_abnormal_cardiac_muscle0.62534308
115MP0008775_abnormal_heart_ventricle0.62233314
116MP0009115_abnormal_fat_cell0.61210879
117MP0010630_abnormal_cardiac_muscle0.60849918
118MP0005164_abnormal_response_to0.60513287
119MP0002177_abnormal_outer_ear0.59809614
120MP0005620_abnormal_muscle_contractility0.58494360
121MP0009697_abnormal_copulation0.58219282
122MP0000266_abnormal_heart_morphology0.57270957

Predicted human phenotypes

RankGene SetZ-score
1Protrusio acetabuli (HP:0003179)8.32676979
2Premature rupture of membranes (HP:0001788)7.48781717
3Ankle contracture (HP:0006466)6.07322336
4Aortic dissection (HP:0002647)5.32364180
5Soft skin (HP:0000977)5.08124188
6Broad metatarsal (HP:0001783)5.05062524
7Shallow orbits (HP:0000586)4.93138886
8Follicular hyperkeratosis (HP:0007502)4.88810112
9Type 1 muscle fiber predominance (HP:0003803)4.71338478
10Atrophic scars (HP:0001075)4.34899118
11Bladder diverticulum (HP:0000015)4.28072399
12Peritonitis (HP:0002586)4.22167500
13Cerebral aneurysm (HP:0004944)4.18291789
14Increased connective tissue (HP:0009025)4.04312227
15Dilatation of the ascending aorta (HP:0005111)4.00065170
16Fragile skin (HP:0001030)3.97140687
17Aortic aneurysm (HP:0004942)3.96176664
18Slender build (HP:0001533)3.91868007
19Mitral valve prolapse (HP:0001634)3.88607624
20Spinal rigidity (HP:0003306)3.87727085
21Genu recurvatum (HP:0002816)3.58314884
22Abnormality of dentin (HP:0010299)3.41998637
23Increased variability in muscle fiber diameter (HP:0003557)3.39832918
24Neonatal short-limb short stature (HP:0008921)3.36462657
25Cervical subluxation (HP:0003308)3.32821395
26Blue sclerae (HP:0000592)3.23439709
27Hyperextensible skin (HP:0000974)3.15015412
28Wormian bones (HP:0002645)3.13849566
29Biconcave vertebral bodies (HP:0004586)3.02861152
30Mildly elevated creatine phosphokinase (HP:0008180)2.99208271
31Wrist flexion contracture (HP:0001239)2.96281885
32Abnormality of skeletal muscle fiber size (HP:0012084)2.91715692
33Bowel diverticulosis (HP:0005222)2.90644453
34Overgrowth (HP:0001548)2.82399465
35Vertebral compression fractures (HP:0002953)2.76940206
36Joint laxity (HP:0001388)2.76166173
37Infantile muscular hypotonia (HP:0008947)2.68626909
38Striae distensae (HP:0001065)2.66057027
39Thin bony cortex (HP:0002753)2.64073524
40Ectopia lentis (HP:0001083)2.55835358
41Short 4th metacarpal (HP:0010044)2.48369457
42Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.48369457
43Aneurysm (HP:0002617)2.45332755
44Wide anterior fontanel (HP:0000260)2.43587328
45Vascular tortuosity (HP:0004948)2.43543356
46Venous insufficiency (HP:0005293)2.41376417
47Buphthalmos (HP:0000557)2.40643983
48Broad ribs (HP:0000885)2.39977186
49Abnormal delivery (HP:0001787)2.38090298
50Venous abnormality (HP:0002624)2.37434460
51Spondylolisthesis (HP:0003302)2.37065342
52Absent frontal sinuses (HP:0002688)2.36914623
53Deviation of the hallux (HP:0010051)2.36175632
54Elbow flexion contracture (HP:0002987)2.36033610
55Muscle fiber splitting (HP:0003555)2.35271462
56Ulnar bowing (HP:0003031)2.34916593
57Camptodactyly of toe (HP:0001836)2.33527113
58Bell-shaped thorax (HP:0001591)2.32655020
59Round ear (HP:0100830)2.31708198
60Osteoarthritis (HP:0002758)2.29751429
61Abnormality of the 4th metacarpal (HP:0010012)2.29599248
62Osteolytic defects of the hand bones (HP:0009699)2.28074346
63Osteolytic defects of the phalanges of the hand (HP:0009771)2.28074346
64Hallux valgus (HP:0001822)2.27610819
65Abnormality of the acetabulum (HP:0003170)2.26548616
66Mitral regurgitation (HP:0001653)2.17698604
67Abnormality of the peritoneum (HP:0002585)2.17661799
68Hypoplasia of the iris (HP:0007676)2.16964229
69Asymmetry of the thorax (HP:0001555)2.12564958
70Arterial tortuosity (HP:0005116)2.11495222
71Vitreoretinal degeneration (HP:0000655)2.09858237
72Limited hip movement (HP:0008800)2.06817431
73Aortic regurgitation (HP:0001659)2.06685283
74Hypoventilation (HP:0002791)2.04796124
75Flat cornea (HP:0007720)2.02729444
76Short nail (HP:0001799)1.99001695
77Abnormality of the anterior chamber (HP:0000593)1.98565576
78Mesomelia (HP:0003027)1.98088309
79Syringomyelia (HP:0003396)1.97341258
80Spinal cord lesions (HP:0100561)1.97341258
81Protruding ear (HP:0000411)1.96228154
82Broad long bones (HP:0005622)1.96105054
83Thoracolumbar scoliosis (HP:0002944)1.95905304
84Generalized amyotrophy (HP:0003700)1.95239892
85Breech presentation (HP:0001623)1.94865701
86Thin ribs (HP:0000883)1.91680461
87Cupped ribs (HP:0000887)1.91634308
88Aortic valve stenosis (HP:0001650)1.91617601
89Disproportionate tall stature (HP:0001519)1.90977696
90Coronal craniosynostosis (HP:0004440)1.90748265
91Limb-girdle muscle weakness (HP:0003325)1.90426340
92Inguinal hernia (HP:0000023)1.89734242
93Tibial bowing (HP:0002982)1.87854099
94Abnormality of the ischium (HP:0003174)1.85883792
95Renal duplication (HP:0000075)1.83222395
96Flexion contracture of toe (HP:0005830)1.80609277
97Joint contractures involving the joints of the feet (HP:0100492)1.80609277
98Arachnodactyly (HP:0001166)1.80022205
99Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.79092873
100Morphological abnormality of the middle ear (HP:0008609)1.78072473
101Delayed cranial suture closure (HP:0000270)1.76252997
102Thin skin (HP:0000963)1.75397529
103Congenital glaucoma (HP:0001087)1.74706277
104Keratoconus (HP:0000563)1.72743442
105Increased corneal curvature (HP:0100692)1.72743442
106Hypoplastic ischia (HP:0003175)1.72085640
107Hip contracture (HP:0003273)1.71686425
108Delayed closure of the anterior fontanelle (HP:0001476)1.70312139
109Mitral stenosis (HP:0001718)1.70140041
110Broad phalanx (HP:0006009)1.69925627
111Knee flexion contracture (HP:0006380)1.69846125
112Cardiovascular calcification (HP:0011915)1.69191008
113Osteopenia (HP:0000938)1.68409172
114Mild short stature (HP:0003502)1.67784021
115Deformed tarsal bones (HP:0008119)1.67710947
116Nonimmune hydrops fetalis (HP:0001790)1.67684336
117Pulmonary artery stenosis (HP:0004415)1.64880490
118Abnormality of the calcaneus (HP:0008364)1.64777261
119Joint stiffness (HP:0001387)1.64703630
120Femoral bowing (HP:0002980)1.62222101
121Tarsal synostosis (HP:0008368)1.61506366

Predicted kinase interactions (KEA)

RankGene SetZ-score
1DDR24.68922374
2TRIB34.31631740
3SIK13.91633193
4PDGFRA3.70064008
5LATS13.69191075
6TTN3.11342083
7CAMK1D2.63426751
8PKN22.50753039
9LATS22.50289419
10RIPK12.44718747
11EPHB22.41960971
12EPHA32.20115530
13CAMK1G2.13024501
14ERN11.93105040
15PAK21.84317983
16FRK1.82645158
17FGFR21.75357795
18PIK3CA1.69120939
19PNCK1.59238898
20DMPK1.56640530
21TGFBR21.55167429
22BMX1.53792333
23FGFR11.53324535
24PDGFRB1.53077340
25STK31.52881027
26MET1.46431766
27FER1.43203585
28PTK21.29403607
29CLK11.25831980
30STK381.25084084
31MTOR1.23232714
32PTK61.22174318
33PAK31.19440627
34NEK91.17403129
35TRPM71.16878273
36PTK2B1.12938383
37EPHA21.03718630
38FGFR31.02854004
39ROCK11.02332820
40AKT30.98817661
41ILK0.95967469
42MYLK0.91517137
43MUSK0.88995894
44LRRK20.87562142
45CDK80.86483079
46CDK60.85800061
47RET0.85768835
48MAP3K100.84893305
49LMTK20.83757286
50EEF2K0.81016468
51NUAK10.80073494
52PRKD30.79014940
53TGFBR10.78678383
54RPS6KA40.77889587
55JAK10.77754299
56INSR0.74724700
57NEK20.73699053
58MAP2K10.73306666
59FLT30.71189186
60PAK40.71138373
61PAK60.70510767
62PRKCH0.70126497
63MST1R0.67464104
64PDK40.66263661
65PDK30.66263661
66MAP3K120.66110532
67FGFR40.65757257
68STK240.63733764
69RPS6KA20.62595212
70PRKD10.61211096
71ROCK20.60631965
72ICK0.60563634
73ERBB30.59221843
74PLK20.59170093
75MOS0.58249205
76STK38L0.58029556
77SCYL20.56650911
78DAPK30.56530590
79WNK10.55696211
80MAPK70.54340278
81EPHB10.53446048
82TAF10.52865101
83PRKAA20.52530599
84ZAK0.51700673
85PIK3CG0.50584982
86PLK30.50477942
87IGF1R0.49036309
88CDK90.48098398
89ERBB20.46532369
90SRC0.46080445
91CSF1R0.45699483
92LIMK10.45041450
93BRSK20.43644289
94TTK0.43335025
95PRKD20.43288403
96CDC42BPA0.42339680
97CDK150.41839955
98NTRK10.41114691
99GSK3A0.41044564
100CDK180.40775880
101CDK11A0.40775518
102CDK120.40563153
103ERBB40.39907942
104BCR0.39723594
105MAP3K60.38762223
106ADRBK10.37600959
107NEK10.36461696
108PAK10.33923868
109DYRK1B0.33409897
110TIE10.33165581
111CDK140.32739150
112MAPK10.31684975
113ABL20.30877306
114PRKG20.30475939
115KIT0.30450026
116CHEK20.29666636
117MAP3K70.29456810
118MARK20.29261853
119PRKCE0.28984142
120INSRR0.28731996
121PIM20.27345549
122MELK0.27249541
123PDK20.27005928
124ARAF0.26961930
125ABL10.26703317
126KSR10.25926648
127TESK10.25862624
128CSNK1G10.25855078
129STK40.25327849
130OBSCN0.24919525
131PBK0.24583348
132CDK70.24561978

Predicted pathways (KEGG)

RankGene SetZ-score
1ECM-receptor interaction_Homo sapiens_hsa045125.13168421
2Protein digestion and absorption_Homo sapiens_hsa049743.49745218
3Focal adhesion_Homo sapiens_hsa045103.31698597
4Proteoglycans in cancer_Homo sapiens_hsa052052.21520300
5Amoebiasis_Homo sapiens_hsa051462.20350769
6Regulation of lipolysis in adipocytes_Homo sapiens_hsa049232.13236610
7Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.10742847
8Adherens junction_Homo sapiens_hsa045202.07360883
9AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049332.06891626
10Small cell lung cancer_Homo sapiens_hsa052222.00884966
11Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.99525949
12Dilated cardiomyopathy_Homo sapiens_hsa054141.97161540
13Basal cell carcinoma_Homo sapiens_hsa052171.92285010
14Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.91826254
15TGF-beta signaling pathway_Homo sapiens_hsa043501.91817607
16PI3K-Akt signaling pathway_Homo sapiens_hsa041511.80012484
17MicroRNAs in cancer_Homo sapiens_hsa052061.78511719
18Malaria_Homo sapiens_hsa051441.75981316
19Bladder cancer_Homo sapiens_hsa052191.73421444
20Hippo signaling pathway_Homo sapiens_hsa043901.72306648
21Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.70845094
22Fatty acid biosynthesis_Homo sapiens_hsa000611.60390741
23Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.53294238
24Hedgehog signaling pathway_Homo sapiens_hsa043401.48401793
25PPAR signaling pathway_Homo sapiens_hsa033201.46381455
26Melanoma_Homo sapiens_hsa052181.43563079
27Chronic myeloid leukemia_Homo sapiens_hsa052201.40437247
28Viral myocarditis_Homo sapiens_hsa054161.35381114
29AMPK signaling pathway_Homo sapiens_hsa041521.22244634
30Prostate cancer_Homo sapiens_hsa052151.21897902
31Pathways in cancer_Homo sapiens_hsa052001.15944202
32Glioma_Homo sapiens_hsa052141.10537963
33Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.10442832
34Regulation of actin cytoskeleton_Homo sapiens_hsa048101.10234596
35Insulin resistance_Homo sapiens_hsa049311.10132198
36Fatty acid metabolism_Homo sapiens_hsa012121.09851055
37Pancreatic cancer_Homo sapiens_hsa052121.08393920
38Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.06667732
39N-Glycan biosynthesis_Homo sapiens_hsa005101.05341189
40Wnt signaling pathway_Homo sapiens_hsa043101.04809120
41Platelet activation_Homo sapiens_hsa046111.02099746
42Longevity regulating pathway - mammal_Homo sapiens_hsa042111.01551237
43Central carbon metabolism in cancer_Homo sapiens_hsa052300.99379615
44Axon guidance_Homo sapiens_hsa043600.97981604
45Propanoate metabolism_Homo sapiens_hsa006400.97506306
46Leukocyte transendothelial migration_Homo sapiens_hsa046700.94901044
47Prion diseases_Homo sapiens_hsa050200.94689322
48p53 signaling pathway_Homo sapiens_hsa041150.94103380
49Adipocytokine signaling pathway_Homo sapiens_hsa049200.92831941
50Colorectal cancer_Homo sapiens_hsa052100.92629153
51Toxoplasmosis_Homo sapiens_hsa051450.91958428
52mTOR signaling pathway_Homo sapiens_hsa041500.90554293
53Glycosaminoglycan degradation_Homo sapiens_hsa005310.90450324
54Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.89493498
55Tight junction_Homo sapiens_hsa045300.86447393
56Endometrial cancer_Homo sapiens_hsa052130.85226908
57Rap1 signaling pathway_Homo sapiens_hsa040150.84759499
58Lysine degradation_Homo sapiens_hsa003100.84061851
59Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.83989860
60Renin-angiotensin system_Homo sapiens_hsa046140.82193988
61Insulin signaling pathway_Homo sapiens_hsa049100.80736732
62Melanogenesis_Homo sapiens_hsa049160.80324898
63HTLV-I infection_Homo sapiens_hsa051660.77953827
64Renal cell carcinoma_Homo sapiens_hsa052110.76668177
65Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.76644562
66Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.74194923
672-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.73735979
68Notch signaling pathway_Homo sapiens_hsa043300.71823925
69Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.70349719
70Fatty acid degradation_Homo sapiens_hsa000710.68716921
71Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.67754032
72HIF-1 signaling pathway_Homo sapiens_hsa040660.66315592
73Estrogen signaling pathway_Homo sapiens_hsa049150.66002438
74Thyroid hormone signaling pathway_Homo sapiens_hsa049190.64114482
75FoxO signaling pathway_Homo sapiens_hsa040680.62487439
76cGMP-PKG signaling pathway_Homo sapiens_hsa040220.61215916
77Vibrio cholerae infection_Homo sapiens_hsa051100.58864525
78Neurotrophin signaling pathway_Homo sapiens_hsa047220.56217207
79Thyroid cancer_Homo sapiens_hsa052160.55368465
80Selenocompound metabolism_Homo sapiens_hsa004500.55195379
81Vascular smooth muscle contraction_Homo sapiens_hsa042700.55179562
82Ovarian steroidogenesis_Homo sapiens_hsa049130.54775411
83Glucagon signaling pathway_Homo sapiens_hsa049220.53895160
84Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.53700669
85TNF signaling pathway_Homo sapiens_hsa046680.53614802
86Sulfur metabolism_Homo sapiens_hsa009200.52419337
87Cell cycle_Homo sapiens_hsa041100.49498436
88Hepatitis B_Homo sapiens_hsa051610.49009349
89Shigellosis_Homo sapiens_hsa051310.48678096
90Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.48379155
91Protein export_Homo sapiens_hsa030600.46838138
92Thyroid hormone synthesis_Homo sapiens_hsa049180.46526029
93Gap junction_Homo sapiens_hsa045400.46137690
94Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.44329289
95Non-small cell lung cancer_Homo sapiens_hsa052230.43757464
96Phospholipase D signaling pathway_Homo sapiens_hsa040720.43190077
97Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.41916227
98Ras signaling pathway_Homo sapiens_hsa040140.41126536
99Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.40291847
100Renin secretion_Homo sapiens_hsa049240.39979470
101Glycerolipid metabolism_Homo sapiens_hsa005610.39782675
102Viral carcinogenesis_Homo sapiens_hsa052030.39613056
103Transcriptional misregulation in cancer_Homo sapiens_hsa052020.39457801
104Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.38717248
105Type II diabetes mellitus_Homo sapiens_hsa049300.37242589
106Acute myeloid leukemia_Homo sapiens_hsa052210.36691506
107Salmonella infection_Homo sapiens_hsa051320.36080063
108Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.35206793
109Dorso-ventral axis formation_Homo sapiens_hsa043200.34782871
110Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.34411314
111Endocytosis_Homo sapiens_hsa041440.34274200
112Complement and coagulation cascades_Homo sapiens_hsa046100.33867927
113Cocaine addiction_Homo sapiens_hsa050300.33424558
114Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.33398986
115Galactose metabolism_Homo sapiens_hsa000520.33261430
116Phagosome_Homo sapiens_hsa041450.31444337
117Nitrogen metabolism_Homo sapiens_hsa009100.30319944
118MAPK signaling pathway_Homo sapiens_hsa040100.30308969
119ErbB signaling pathway_Homo sapiens_hsa040120.26494135
120Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.24193682
121Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.23448554
122Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.18757050
123Choline metabolism in cancer_Homo sapiens_hsa052310.18603909
124Biosynthesis of amino acids_Homo sapiens_hsa012300.15952974
125Nucleotide excision repair_Homo sapiens_hsa034200.15783558
126GnRH signaling pathway_Homo sapiens_hsa049120.14540472

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