COL16A1

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 the alpha chain of type XVI collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. High levels of type XVI collagen have been found in fibroblasts and keratinocytes, and in smooth muscle and amnion. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1protein heterotrimerization (GO:0070208)8.69870715
2collagen fibril organization (GO:0030199)7.09424727
3bone trabecula formation (GO:0060346)6.18931748
4skin morphogenesis (GO:0043589)5.97031314
5endodermal cell differentiation (GO:0035987)5.53329521
6* collagen metabolic process (GO:0032963)5.45610353
7* collagen catabolic process (GO:0030574)5.43715935
8chondrocyte proliferation (GO:0035988)5.14680796
9* multicellular organismal macromolecule metabolic process (GO:0044259)5.14514361
10* multicellular organismal catabolic process (GO:0044243)5.00546627
11* multicellular organismal metabolic process (GO:0044236)4.84077799
12sequestering of extracellular ligand from receptor (GO:0035581)4.74253936
13* extracellular matrix disassembly (GO:0022617)4.62012594
14neuron projection extension involved in neuron projection guidance (GO:1902284)4.43083523
15axon extension involved in axon guidance (GO:0048846)4.43083523
16cartilage development involved in endochondral bone morphogenesis (GO:0060351)4.34023881
17hemidesmosome assembly (GO:0031581)4.33078240
18regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)4.25743385
19extracellular fibril organization (GO:0043206)4.12459087
20negative regulation of fatty acid transport (GO:2000192)4.11199022
21planar cell polarity pathway involved in neural tube closure (GO:0090179)3.99908583
22outer ear morphogenesis (GO:0042473)3.95398943
23mesenchymal-epithelial cell signaling (GO:0060638)3.84829753
24regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.80472482
25negative regulation of chondrocyte differentiation (GO:0032331)3.79032220
26fibril organization (GO:0097435)3.62763803
27type B pancreatic cell proliferation (GO:0044342)3.59897173
28plasma membrane repair (GO:0001778)3.58694410
29basement membrane organization (GO:0071711)3.58273645
30tooth mineralization (GO:0034505)3.58257965
31keratan sulfate catabolic process (GO:0042340)3.56272871
32wound healing, spreading of epidermal cells (GO:0035313)3.51032703
33adhesion of symbiont to host cell (GO:0044650)3.49604967
34virion attachment to host cell (GO:0019062)3.49604967
35craniofacial suture morphogenesis (GO:0097094)3.46428148
36cell adhesion mediated by integrin (GO:0033627)3.46348753
37peptidyl-proline hydroxylation (GO:0019511)3.45500188
38dermatan sulfate biosynthetic process (GO:0030208)3.44680519
39G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071993.42998964
40extracellular matrix assembly (GO:0085029)3.40268091
41positive regulation of endothelial cell apoptotic process (GO:2000353)3.34799391
42cell-substrate junction assembly (GO:0007044)3.34437808
43peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)3.33165170
44anatomical structure regression (GO:0060033)3.31171393
45apoptotic cell clearance (GO:0043277)3.31053243
46negative regulation of cartilage development (GO:0061037)3.30063930
47epithelial cell-cell adhesion (GO:0090136)3.27917670
48regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.25061875
49metanephric mesenchyme development (GO:0072075)3.24534816
50* extracellular matrix organization (GO:0030198)3.22283472
51positive regulation of epithelial to mesenchymal transition (GO:0010718)3.22050123
52* extracellular structure organization (GO:0043062)3.21102092
53embryonic cranial skeleton morphogenesis (GO:0048701)3.20986612
54insulin-like growth factor receptor signaling pathway (GO:0048009)3.18327509
55chondrocyte development (GO:0002063)3.17721683
56polarized epithelial cell differentiation (GO:0030859)3.15019668
57positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr3.12444468
58kidney mesenchyme development (GO:0072074)3.09799683
59middle ear morphogenesis (GO:0042474)3.08796961
60dermatan sulfate metabolic process (GO:0030205)3.08013567
61adhesion of symbiont to host (GO:0044406)3.07979681
62glial cell migration (GO:0008347)3.07335536
63endothelial cell morphogenesis (GO:0001886)3.05859371
64stress fiber assembly (GO:0043149)3.03372419
65protein hydroxylation (GO:0018126)3.02496235
66cellular response to vascular endothelial growth factor stimulus (GO:0035924)3.00980559
67negative regulation of catenin import into nucleus (GO:0035414)3.00212224
68negative regulation of embryonic development (GO:0045992)3.00212082
69desmosome organization (GO:0002934)2.98960900
70adherens junction assembly (GO:0034333)2.97941048
71cell migration involved in heart development (GO:0060973)2.96422372
72cell proliferation involved in metanephros development (GO:0072203)2.95067154
73positive regulation of mesenchymal cell proliferation (GO:0002053)2.95012082
74* cellular response to amino acid stimulus (GO:0071230)2.90042635
75cellular response to vitamin (GO:0071295)2.89044126
76lung-associated mesenchyme development (GO:0060484)2.88277877
77cell-substrate adherens junction assembly (GO:0007045)2.87765730
78focal adhesion assembly (GO:0048041)2.87765730
79hippo signaling (GO:0035329)2.87691244
80regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition 2.87350305
81protein localization to cell surface (GO:0034394)2.86449031
82protein trimerization (GO:0070206)2.85759334
83glomerular basement membrane development (GO:0032836)2.85547112
84embryonic skeletal joint morphogenesis (GO:0060272)2.83334156
85trabecula formation (GO:0060343)2.80720319
86vascular endothelial growth factor signaling pathway (GO:0038084)2.80174097
87Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.80054434
88barbed-end actin filament capping (GO:0051016)2.79862866
89positive regulation of blood vessel endothelial cell migration (GO:0043536)2.79858969
90protein retention in ER lumen (GO:0006621)2.79617970
91endochondral ossification (GO:0001958)2.78406454
92replacement ossification (GO:0036075)2.78406454
93regulation of extracellular matrix disassembly (GO:0010715)2.77816958
94non-canonical Wnt signaling pathway (GO:0035567)2.77326456
95negative regulation of smooth muscle cell migration (GO:0014912)2.77110949
96endothelial cell chemotaxis (GO:0035767)2.77025094
97smooth muscle tissue development (GO:0048745)2.75822214
98skin development (GO:0043588)2.75548756
99substrate adhesion-dependent cell spreading (GO:0034446)2.75403571
100endocardial cushion development (GO:0003197)2.75262835
101semaphorin-plexin signaling pathway (GO:0071526)2.74862097
102regulation of establishment of planar polarity (GO:0090175)2.73434813
103cellular response to vitamin D (GO:0071305)2.73316939
104regulation of cartilage development (GO:0061035)2.72294498
105pattern specification involved in kidney development (GO:0061004)2.71603057
106wound healing, spreading of cells (GO:0044319)2.70471750
107atrioventricular valve morphogenesis (GO:0003181)2.70185589
108substrate-dependent cell migration (GO:0006929)2.69867902
109cell migration involved in sprouting angiogenesis (GO:0002042)2.69069578
110eye morphogenesis (GO:0048592)2.68721272
111regulation of heart morphogenesis (GO:2000826)2.66887478
112regulation of mesenchymal cell proliferation (GO:0010464)2.66730030
113maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.66359621
114regulation of axon extension involved in axon guidance (GO:0048841)2.65903142
115glomerular filtration (GO:0003094)2.64983591
116branching involved in salivary gland morphogenesis (GO:0060445)2.63939833
117blood vessel maturation (GO:0001955)2.63905114
118face morphogenesis (GO:0060325)2.63806855
119vascular endothelial growth factor receptor signaling pathway (GO:0048010)2.63114227
120cytoskeletal anchoring at plasma membrane (GO:0007016)2.62996365
121positive regulation of osteoblast proliferation (GO:0033690)2.62512940
122regulation of chondrocyte differentiation (GO:0032330)2.62006975
123renal filtration (GO:0097205)2.59898757
124extracellular regulation of signal transduction (GO:1900115)2.59687180
125extracellular negative regulation of signal transduction (GO:1900116)2.59687180
126retina vasculature morphogenesis in camera-type eye (GO:0061299)2.57167924
127bone morphogenesis (GO:0060349)2.57115485
128venous blood vessel morphogenesis (GO:0048845)2.55684873
129negative regulation of BMP signaling pathway (GO:0030514)2.54818830
130cochlea morphogenesis (GO:0090103)2.52776162
131dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.52461260
132chondroitin sulfate catabolic process (GO:0030207)2.50716622
133muscle cell migration (GO:0014812)2.49109255
134COPI coating of Golgi vesicle (GO:0048205)2.44929307
135Golgi transport vesicle coating (GO:0048200)2.44929307
136chondroitin sulfate biosynthetic process (GO:0030206)2.44398960
137negative regulation of axon extension involved in axon guidance (GO:0048843)2.42649500
138negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)2.42170117

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human7.06316853
2TRIM28_21343339_ChIP-Seq_HEK293_Human5.09137370
3RARG_19884340_ChIP-ChIP_MEFs_Mouse4.12812954
4PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse3.28241574
5RUNX2_24764292_ChIP-Seq_MC3T3_Mouse2.72092339
6* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.68172120
7CLOCK_20551151_ChIP-Seq_293T_Human2.64142197
8NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.34433125
9STAT6_21828071_ChIP-Seq_BEAS2B_Human2.26012121
10ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.25898111
11WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse2.21822714
12EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.16815104
13* CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse2.07630025
14ELK3_25401928_ChIP-Seq_HUVEC_Human1.93859696
15* CJUN_26792858_Chip-Seq_BT549_Human1.92863419
16CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.89147004
17TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.87646419
18ESR2_21235772_ChIP-Seq_MCF-7_Human1.78140220
19MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.71915968
20ESR1_21235772_ChIP-Seq_MCF-7_Human1.71000684
21HIF1A_21447827_ChIP-Seq_MCF-7_Human1.69620826
22SOX9_24532713_ChIP-Seq_HFSC_Mouse1.67106460
23SMAD_19615063_ChIP-ChIP_OVARY_Human1.66497097
24WT1_19549856_ChIP-ChIP_CCG9911_Human1.66419113
25* BRD4_25478319_ChIP-Seq_HGPS_Human1.66164935
26RNF2_18974828_ChIP-Seq_MESCs_Mouse1.65759818
27EZH2_18974828_ChIP-Seq_MESCs_Mouse1.65759818
28P300_27058665_Chip-Seq_ZR-75-30cells_Human1.63864373
29EP300_21415370_ChIP-Seq_HL-1_Mouse1.63423198
30EED_16625203_ChIP-ChIP_MESCs_Mouse1.61543902
31KDM2B_26808549_Chip-Seq_SUP-B15_Human1.61091577
32TP53_20018659_ChIP-ChIP_R1E_Mouse1.59053142
33ZFP281_18757296_ChIP-ChIP_E14_Mouse1.58401990
34SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.58128290
35SMC1_22415368_ChIP-Seq_MEFs_Mouse1.48934422
36SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.47237905
37* SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.46763531
38KDM2B_26808549_Chip-Seq_K562_Human1.46513267
39* UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.46486509
40TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.46285207
41EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.44158793
42* LXR_22292898_ChIP-Seq_THP-1_Human1.43605622
43* RACK7_27058665_Chip-Seq_MCF-7_Human1.42949364
44ZNF263_19887448_ChIP-Seq_K562_Human1.42708129
45TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.42451886
46EGR1_19374776_ChIP-ChIP_THP-1_Human1.38878415
47TP53_22127205_ChIP-Seq_IMR90_Human1.37730474
48SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.35437818
49SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.35437818
50* UBF1/2_26484160_Chip-Seq_HMECs_Human1.34746351
51DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.34078187
52PPAR_26484153_Chip-Seq_NCI-H1993_Human1.33506744
53SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.33129333
54ZFP281_27345836_Chip-Seq_ESCs_Mouse1.32966927
55KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.31746924
56SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.30264964
57TBX20_22328084_ChIP-Seq_HEART_Mouse1.29751865
58TBX20_22080862_ChIP-Seq_HEART_Mouse1.29751865
59KDM2B_26808549_Chip-Seq_DND41_Human1.28299099
60SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.28054655
61SUZ12_27294783_Chip-Seq_ESCs_Mouse1.27751406
62SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.27663187
63JARID2_20075857_ChIP-Seq_MESCs_Mouse1.27190974
64* ATF3_27146783_Chip-Seq_COLON_Human1.26538591
65JARID2_20064375_ChIP-Seq_MESCs_Mouse1.26386976
66CDX2_19796622_ChIP-Seq_MESCs_Mouse1.25929917
67NFIB_24661679_ChIP-Seq_LUNG_Mouse1.25010330
68SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.24660301
69PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.23381819
70* P63_26484246_Chip-Seq_KERATINOCYTES_Human1.22930706
71GATA2_21666600_ChIP-Seq_HMVEC_Human1.22292337
72KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.22003998
73KDM2B_26808549_Chip-Seq_JURKAT_Human1.19581912
74TP53_18474530_ChIP-ChIP_U2OS_Human1.18712913
75ISL1_27105846_Chip-Seq_CPCs_Mouse1.18599144
76RNF2_27304074_Chip-Seq_ESCs_Mouse1.18435571
77NRF2_20460467_ChIP-Seq_MEFs_Mouse1.16956616
78NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.16956616
79TP53_23651856_ChIP-Seq_MEFs_Mouse1.16008946
80NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.15171441
81TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.13515695
82* JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.13312981
83SMC3_22415368_ChIP-Seq_MEFs_Mouse1.13025084
84ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.12221381
85* JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.12169807
86EZH2_27304074_Chip-Seq_ESCs_Mouse1.12050534
87* TET1_21490601_ChIP-Seq_MESCs_Mouse1.10039198
88FOXO3_23340844_ChIP-Seq_DLD1_Human1.09672497
89DROSHA_22980978_ChIP-Seq_HELA_Human1.09196714
90RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.08973144
91TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.08395398
92MTF2_20144788_ChIP-Seq_MESCs_Mouse1.08383174
93TP53_16413492_ChIP-PET_HCT116_Human1.08358441
94ESR1_15608294_ChIP-ChIP_MCF-7_Human1.07974926
95RUNX1_27514584_Chip-Seq_MCF-7_Human1.07380708
96WT1_25993318_ChIP-Seq_PODOCYTE_Human1.07051709
97ZNF217_24962896_ChIP-Seq_MCF-7_Human1.06982989
98ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.06129793
99EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.05585837
100KLF5_25053715_ChIP-Seq_YYC3_Human1.05384126
101PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.05113261
102FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.04642566
103DNAJC2_21179169_ChIP-ChIP_NT2_Human1.04435608
104KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.04148250
105THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.00350464
106SA1_22415368_ChIP-Seq_MEFs_Mouse0.99703166
107CTNNB1_20460455_ChIP-Seq_HCT116_Human0.98231403
108TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.98188907
109* CTCF_27219007_Chip-Seq_Bcells_Human0.98125830
110ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.97611785
111* SOX2_20726797_ChIP-Seq_SW620_Human0.96131336
112RING1B_27294783_Chip-Seq_ESCs_Mouse0.94322936
113EZH2_27294783_Chip-Seq_ESCs_Mouse0.93846867
114SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.93827524
115ERG_21242973_ChIP-ChIP_JURKAT_Human0.93636263
116RING1B_27294783_Chip-Seq_NPCs_Mouse0.91244452
117ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.90679679

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen8.16516731
2MP0005275_abnormal_skin_tensile6.01557079
3MP0005503_abnormal_tendon_morphology5.20869997
4MP0003705_abnormal_hypodermis_morpholog4.13582717
5MP0003279_aneurysm3.19703518
6MP0004272_abnormal_basement_membrane3.05701872
7MP0001958_emphysema3.01766993
8MP0006054_spinal_hemorrhage2.83040667
9MP0002060_abnormal_skin_morphology2.56742120
10MP0005257_abnormal_intraocular_pressure2.52976159
11MP0005623_abnormal_meninges_morphology2.45152774
12MP0010030_abnormal_orbit_morphology2.15435463
13MP0005508_abnormal_skeleton_morphology2.14096164
14MP0009384_cardiac_valve_regurgitation1.88816854
15MP0001243_abnormal_dermal_layer1.87572311
16MP0002108_abnormal_muscle_morphology1.86817484
17MP0003566_abnormal_cell_adhesion1.85882860
18MP0002896_abnormal_bone_mineralization1.80028366
19MP0009250_abnormal_appendicular_skeleto1.79819914
20MP0003283_abnormal_digestive_organ1.79263437
21MP0000751_myopathy1.77635282
22MP0003385_abnormal_body_wall1.67782287
23MP0001542_abnormal_bone_strength1.51490912
24MP0005023_abnormal_wound_healing1.50988681
25MP0000733_abnormal_muscle_development1.50023690
26MP0002282_abnormal_trachea_morphology1.48922763
27MP0000013_abnormal_adipose_tissue1.46218956
28MP0004134_abnormal_chest_morphology1.42271061
29MP0003091_abnormal_cell_migration1.37045504
30MP0001299_abnormal_eye_distance/1.36038982
31MP0000534_abnormal_ureter_morphology1.32750935
32MP0005409_darkened_coat_color1.27846944
33MP0002115_abnormal_skeleton_extremities1.27664534
34MP0002295_abnormal_pulmonary_circulatio1.27572227
35MP0010352_gastrointestinal_tract_polyps1.26577755
36MP0000428_abnormal_craniofacial_morphol1.26436377
37MP0002932_abnormal_joint_morphology1.25612986
38MP0000163_abnormal_cartilage_morphology1.21817319
39MP0003942_abnormal_urinary_system1.21356528
40MP0003045_fibrosis1.21266796
41MP0000762_abnormal_tongue_morphology1.21153995
42MP0000579_abnormal_nail_morphology1.20540234
43MP0003115_abnormal_respiratory_system1.17050425
44MP0001849_ear_inflammation1.15561202
45MP0005595_abnormal_vascular_smooth1.15124423
46MP0005390_skeleton_phenotype1.10874295
47MP0002249_abnormal_larynx_morphology1.10269807
48MP0000750_abnormal_muscle_regeneration1.09527133
49MP0002877_abnormal_melanocyte_morpholog1.09466920
50MP0005076_abnormal_cell_differentiation1.08726583
51MP0009053_abnormal_anal_canal1.08540362
52MP0010234_abnormal_vibrissa_follicle1.07681508
53MP0000767_abnormal_smooth_muscle1.06851263
54MP0002234_abnormal_pharynx_morphology1.05942855
55MP0001348_abnormal_lacrimal_gland1.05748599
56MP0000049_abnormal_middle_ear1.05520503
57MP0003755_abnormal_palate_morphology1.04536433
58MP0000462_abnormal_digestive_system0.99115664
59MP0002113_abnormal_skeleton_development0.98837583
60MP0002933_joint_inflammation0.97988073
61MP0000003_abnormal_adipose_tissue0.96410730
62MP0003950_abnormal_plasma_membrane0.94152730
63MP0000432_abnormal_head_morphology0.93935266
64MP0002109_abnormal_limb_morphology0.93468973
65MP0002168_other_aberrant_phenotype0.93455389
66MP0002089_abnormal_postnatal_growth/wei0.92645521
67MP0010771_integument_phenotype0.92335648
68MP0003935_abnormal_craniofacial_develop0.92284323
69MP0002116_abnormal_craniofacial_bone0.91052078
70MP0002998_abnormal_bone_remodeling0.90935696
71MP0000537_abnormal_urethra_morphology0.86890595
72MP0002233_abnormal_nose_morphology0.86687625
73MP0003122_maternal_imprinting0.86399402
74MP0002133_abnormal_respiratory_system0.85633548
75MP0005388_respiratory_system_phenotype0.85633548
76MP0009278_abnormal_bone_marrow0.84420645
77MP0003941_abnormal_skin_development0.84389982
78MP0001879_abnormal_lymphatic_vessel0.82180091
79MP0002796_impaired_skin_barrier0.79338605
80MP0003937_abnormal_limbs/digits/tail_de0.75662311
81MP0004858_abnormal_nervous_system0.75055780
82MP0010386_abnormal_urinary_bladder0.74088196
83MP0003300_gastrointestinal_ulcer0.73380354
84MP0006138_congestive_heart_failure0.73251857
85MP0002111_abnormal_tail_morphology0.72749717
86MP0000467_abnormal_esophagus_morphology0.71853300
87MP0003795_abnormal_bone_structure0.71566065
88MP0001270_distended_abdomen0.71163335
89MP0002128_abnormal_blood_circulation0.70554112
90MP0000759_abnormal_skeletal_muscle0.70417831
91MP0009780_abnormal_chondrocyte_physiolo0.69854053
92MP0005164_abnormal_response_to0.69501722
93MP0001614_abnormal_blood_vessel0.68631873
94MP0002114_abnormal_axial_skeleton0.67672838
95MP0005369_muscle_phenotype0.66382679
96MP0005171_absent_coat_pigmentation0.66321927
97MP0005375_adipose_tissue_phenotype0.65505868
98MP0004087_abnormal_muscle_fiber0.64902125
99MP0002177_abnormal_outer_ear0.64610073
100MP0000538_abnormal_urinary_bladder0.63887065
101MP0004859_abnormal_synaptic_plasticity0.63859737
102MP0004084_abnormal_cardiac_muscle0.62810388
103MP0010368_abnormal_lymphatic_system0.62455849
104MP0001177_atelectasis0.62345501
105MP0002254_reproductive_system_inflammat0.62121360
106MP0001340_abnormal_eyelid_morphology0.61823164
107MP0004036_abnormal_muscle_relaxation0.61557575
108MP0000377_abnormal_hair_follicle0.61289556
109MP0002925_abnormal_cardiovascular_devel0.60995675
110MP0003329_amyloid_beta_deposits0.59459094
111MP0001915_intracranial_hemorrhage0.58477731
112MP0000749_muscle_degeneration0.57479593
113MP0001175_abnormal_lung_morphology0.56452384
114MP0009379_abnormal_foot_pigmentation0.54876069
115MP0001216_abnormal_epidermal_layer0.54622227
116MP0003453_abnormal_keratinocyte_physiol0.54550697
117MP0005058_abnormal_lysosome_morphology0.53694578
118MP0000678_abnormal_parathyroid_gland0.53661011
119MP0005197_abnormal_uvea_morphology0.53025874

Predicted human phenotypes

RankGene SetZ-score
1Protrusio acetabuli (HP:0003179)7.80440874
2Premature rupture of membranes (HP:0001788)7.54788473
3Atrophic scars (HP:0001075)5.88363134
4Ankle contracture (HP:0006466)5.79969548
5Fragile skin (HP:0001030)4.76421401
6Aortic dissection (HP:0002647)4.75491908
7Follicular hyperkeratosis (HP:0007502)4.72302239
8Type 1 muscle fiber predominance (HP:0003803)4.66299404
9Shallow orbits (HP:0000586)4.52691761
10Peritonitis (HP:0002586)4.47315326
11Soft skin (HP:0000977)4.38376315
12Neonatal short-limb short stature (HP:0008921)4.34690976
13Broad metatarsal (HP:0001783)4.32997172
14Bladder diverticulum (HP:0000015)4.25329480
15Abnormality of dentin (HP:0010299)4.02628907
16Cerebral aneurysm (HP:0004944)3.77626951
17Slender build (HP:0001533)3.74989945
18Increased connective tissue (HP:0009025)3.73362725
19Spinal rigidity (HP:0003306)3.63056992
20Mitral valve prolapse (HP:0001634)3.57788531
21Genu recurvatum (HP:0002816)3.56694829
22Dilatation of the ascending aorta (HP:0005111)3.54983667
23Mildly elevated creatine phosphokinase (HP:0008180)3.21411552
24Increased variability in muscle fiber diameter (HP:0003557)3.20017785
25Biconcave vertebral bodies (HP:0004586)3.18025414
26Cervical subluxation (HP:0003308)3.12856076
27Wormian bones (HP:0002645)3.12427049
28Blue sclerae (HP:0000592)3.06850328
29Bowel diverticulosis (HP:0005222)2.99253779
30Aortic aneurysm (HP:0004942)2.95710488
31Abnormality of skeletal muscle fiber size (HP:0012084)2.77366354
32Hyperextensible skin (HP:0000974)2.73387273
33Deviation of the hallux (HP:0010051)2.64550785
34Wrist flexion contracture (HP:0001239)2.64549743
35Milia (HP:0001056)2.59203665
36Vertebral compression fractures (HP:0002953)2.58249331
37Hallux valgus (HP:0001822)2.56724407
38Elbow flexion contracture (HP:0002987)2.55151044
39Joint laxity (HP:0001388)2.48692500
40Infantile muscular hypotonia (HP:0008947)2.46951472
41Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.46834918
42Short 4th metacarpal (HP:0010044)2.46834918
43Abnormal delivery (HP:0001787)2.45562014
44Osteoarthritis (HP:0002758)2.39786113
45Mild short stature (HP:0003502)2.37850741
46Morphological abnormality of the middle ear (HP:0008609)2.32552808
47Nonimmune hydrops fetalis (HP:0001790)2.31888817
48Breech presentation (HP:0001623)2.30793028
49Abnormality of the acetabulum (HP:0003170)2.30569472
50Obstructive sleep apnea (HP:0002870)2.29200982
51Ulnar bowing (HP:0003031)2.28414574
52Mesomelia (HP:0003027)2.27097010
53Osteolytic defects of the phalanges of the hand (HP:0009771)2.25620617
54Osteolytic defects of the hand bones (HP:0009699)2.25620617
55Natal tooth (HP:0000695)2.24403094
56Wide anterior fontanel (HP:0000260)2.23909342
57Abnormality of the peritoneum (HP:0002585)2.23466566
58Alopecia of scalp (HP:0002293)2.22597304
59Hypoventilation (HP:0002791)2.19810493
60Aortic valve stenosis (HP:0001650)2.19462394
61Femoral bowing (HP:0002980)2.17732620
62Thin bony cortex (HP:0002753)2.16959983
63Tibial bowing (HP:0002982)2.16319920
64Ectopia lentis (HP:0001083)2.16275873
65Joint stiffness (HP:0001387)2.14451294
66Mitral regurgitation (HP:0001653)2.14268185
67Venous insufficiency (HP:0005293)2.08302271
68Venous abnormality (HP:0002624)2.07297794
69Bell-shaped thorax (HP:0001591)2.05132759
70Overgrowth (HP:0001548)2.04157922
71Abnormality of the 4th metacarpal (HP:0010012)2.02504165
72Aneurysm (HP:0002617)2.01711420
73Buphthalmos (HP:0000557)2.01014435
74Flat cornea (HP:0007720)2.00560835
75Striae distensae (HP:0001065)1.99292611
76Coronal craniosynostosis (HP:0004440)1.97904649
77Renovascular hypertension (HP:0100817)1.97399933
78Limited hip movement (HP:0008800)1.94707824
79Vascular tortuosity (HP:0004948)1.93731187
80Protruding ear (HP:0000411)1.92653538
81Broad long bones (HP:0005622)1.91966176
82Generalized amyotrophy (HP:0003700)1.91945238
83Mitral stenosis (HP:0001718)1.91747018
84Hyperacusis (HP:0010780)1.87929984
85Bowed forearm bones (HP:0003956)1.87243268
86Bowing of the arm (HP:0006488)1.87243268
87Turricephaly (HP:0000262)1.86981916
88Aortic regurgitation (HP:0001659)1.86956808
89Limb-girdle muscle weakness (HP:0003325)1.86510725
90Disproportionate tall stature (HP:0001519)1.86441003
91Camptodactyly of toe (HP:0001836)1.86208750
92Hypoplasia of the iris (HP:0007676)1.86020418
93Round ear (HP:0100830)1.85732160
94Hip contracture (HP:0003273)1.85181347
95Thin skin (HP:0000963)1.83987414
96Broad ribs (HP:0000885)1.83326918
97Hypoplastic ischia (HP:0003175)1.81582768
98Pulmonary artery stenosis (HP:0004415)1.81183879
99Distal upper limb amyotrophy (HP:0007149)1.81006602
100Upper limb amyotrophy (HP:0009129)1.81006602
101Narrow nasal bridge (HP:0000446)1.79866313
102Renal duplication (HP:0000075)1.79001230
103Calcaneovalgus deformity (HP:0001848)1.77073043
104Enlarged penis (HP:0000040)1.76387784
105Radial bowing (HP:0002986)1.75847624
106Short nail (HP:0001799)1.74536046
107Muscle fiber splitting (HP:0003555)1.74172353
108Platyspondyly (HP:0000926)1.74140800
109Advanced eruption of teeth (HP:0006288)1.73252213
110Broad face (HP:0000283)1.73194117
111Knee flexion contracture (HP:0006380)1.72442266
112Deformed tarsal bones (HP:0008119)1.71507182
113Inguinal hernia (HP:0000023)1.71474388
114Arterial tortuosity (HP:0005116)1.71180544
115Thoracolumbar scoliosis (HP:0002944)1.70313156
116Ulnar deviation of the wrist (HP:0003049)1.69455101
117Emphysema (HP:0002097)1.68542084
118Decreased skull ossification (HP:0004331)1.68352760
119Spondylolisthesis (HP:0003302)1.67799646
120Abnormality of skull ossification (HP:0002703)1.65418487
121Long toe (HP:0010511)1.61766467

Predicted kinase interactions (KEA)

RankGene SetZ-score
1DDR25.32864605
2TRIB34.86770619
3TTN3.84224895
4PDGFRA3.40672316
5PKN23.33259305
6SIK13.24541233
7LATS12.82515382
8ERN12.57567381
9RIPK12.55274533
10LATS22.54390336
11EEF2K2.37879867
12BMX2.14640401
13EPHB21.90759455
14PTK61.86788776
15AKT31.84979128
16PAK21.80773490
17FER1.76003878
18EPHA31.66224591
19MAP3K61.59846467
20MAP3K101.52656829
21PTK21.52339865
22PRKD31.47533224
23LRRK21.38159587
24TRPM71.36931287
25TGFBR21.36789086
26FGFR11.34880194
27MET1.30713257
28PAK41.30606616
29PDGFRB1.29604071
30DMPK1.28437240
31EPHB11.21448313
32ICK1.20334824
33FGFR21.14180722
34MAPK71.11148943
35STK31.10015622
36PTK2B1.07691440
37MST1R1.00442998
38MTOR1.00289225
39TESK11.00226658
40ILK0.98113405
41RET0.97366482
42PRKD20.96596980
43PAK30.95842045
44PRPF4B0.90946712
45ROCK10.89484425
46CAMK1D0.89050067
47FGFR40.84853463
48LMTK20.82075061
49NTRK10.78747862
50ARAF0.76663521
51RPS6KA40.76409807
52PDK40.76345951
53PDK30.76345951
54SMG10.76148361
55ABL20.75232851
56PIK3CA0.74496844
57PRKCH0.73309007
58MOS0.72710482
59MYLK0.72672389
60MAP3K30.72431338
61CAMK1G0.71821830
62MARK10.71039508
63PIM20.70716035
64EPHA20.69470923
65CAMKK10.68779699
66TYRO30.67621943
67ROCK20.67147019
68ERBB40.63693415
69PRKD10.63630014
70KSR20.63481251
71CAMK2G0.62771135
72STK380.62139941
73DYRK1B0.59897651
74MAP2K10.58140571
75CDK120.57535598
76PAK60.56623751
77RPS6KA60.56222512
78TAOK10.55987223
79MAP3K70.53088405
80WNK10.52902390
81TGFBR10.51846432
82MAPK150.50609144
83CDK60.50317072
84GRK50.49980345
85PIK3CG0.49062910
86ERBB20.48801293
87FLT30.47860068
88PDK20.47629911
89FGFR30.47419233
90CAMK10.46949990
91MAPKAPK30.46833192
92INSR0.44282149
93NTRK30.42329699
94SCYL20.42044485
95PAK10.41355181
96STK38L0.41276870
97MAPKAPK50.41205153
98SRC0.41023361
99MARK20.40744248
100CDC42BPA0.40579398
101MAPK40.40117088
102HIPK20.39525771
103JAK10.39285141
104NEK90.39103663
105MAP3K130.37766819
106NME20.37681936
107PDPK10.37405415
108MAPK120.36986865
109FRK0.36975370
110PRKG20.34584453
111MAP3K20.34279889
112MAP2K30.33703064
113CAMK2B0.33344761
114RPS6KA20.33033404
115LIMK10.31751697
116MATK0.31635500
117DAPK30.31370197
118NEK20.31049663
119KIT0.29183448
120GSK3A0.27133337
121MAPK10.26878340
122RPS6KC10.25381545
123RPS6KL10.25381545
124ADRBK10.25316064

Predicted pathways (KEGG)

RankGene SetZ-score
1ECM-receptor interaction_Homo sapiens_hsa045125.17499738
2Protein digestion and absorption_Homo sapiens_hsa049743.88704463
3Focal adhesion_Homo sapiens_hsa045103.27024895
4Basal cell carcinoma_Homo sapiens_hsa052172.49885819
5Amoebiasis_Homo sapiens_hsa051462.47671978
6Proteoglycans in cancer_Homo sapiens_hsa052052.33815326
7AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049332.22185596
8Hedgehog signaling pathway_Homo sapiens_hsa043402.17419366
9Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.09927142
10Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.93630801
11Small cell lung cancer_Homo sapiens_hsa052221.86650409
12Bladder cancer_Homo sapiens_hsa052191.85894361
13Adherens junction_Homo sapiens_hsa045201.75927619
14Dilated cardiomyopathy_Homo sapiens_hsa054141.74337896
15Hippo signaling pathway_Homo sapiens_hsa043901.70226982
16Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.69303922
17Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.68014208
18PI3K-Akt signaling pathway_Homo sapiens_hsa041511.63426374
19MicroRNAs in cancer_Homo sapiens_hsa052061.48113568
20Chronic myeloid leukemia_Homo sapiens_hsa052201.46441957
21Malaria_Homo sapiens_hsa051441.44615822
22TGF-beta signaling pathway_Homo sapiens_hsa043501.42730052
23Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.31266151
24Platelet activation_Homo sapiens_hsa046111.23534170
25Other glycan degradation_Homo sapiens_hsa005111.23290091
26Central carbon metabolism in cancer_Homo sapiens_hsa052301.22452003
27Melanoma_Homo sapiens_hsa052181.20589701
28Glioma_Homo sapiens_hsa052141.18641450
29Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.17377553
30Melanogenesis_Homo sapiens_hsa049161.15225084
31Regulation of actin cytoskeleton_Homo sapiens_hsa048101.13203935
32Wnt signaling pathway_Homo sapiens_hsa043101.12803394
33Pathways in cancer_Homo sapiens_hsa052001.10980208
34Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.10783553
35Notch signaling pathway_Homo sapiens_hsa043301.04902444
36Axon guidance_Homo sapiens_hsa043601.04693509
37Tight junction_Homo sapiens_hsa045301.02000429
38Renin secretion_Homo sapiens_hsa049241.00589197
39Toxoplasmosis_Homo sapiens_hsa051451.00516292
40Estrogen signaling pathway_Homo sapiens_hsa049150.99888798
41Prostate cancer_Homo sapiens_hsa052150.99332077
42Pancreatic cancer_Homo sapiens_hsa052120.99056755
43Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.96809064
44Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.95488877
45Leukocyte transendothelial migration_Homo sapiens_hsa046700.94114607
46Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.92159681
47Rap1 signaling pathway_Homo sapiens_hsa040150.91496661
48Endometrial cancer_Homo sapiens_hsa052130.90107497
49Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.88993043
50Insulin resistance_Homo sapiens_hsa049310.84963424
51Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.84290889
52mTOR signaling pathway_Homo sapiens_hsa041500.81947954
53HTLV-I infection_Homo sapiens_hsa051660.80866828
54GnRH signaling pathway_Homo sapiens_hsa049120.77758711
55Cocaine addiction_Homo sapiens_hsa050300.77121602
56VEGF signaling pathway_Homo sapiens_hsa043700.76963846
57Renal cell carcinoma_Homo sapiens_hsa052110.74526157
58Long-term potentiation_Homo sapiens_hsa047200.73531415
59Viral myocarditis_Homo sapiens_hsa054160.73174376
60Colorectal cancer_Homo sapiens_hsa052100.73157984
61Gap junction_Homo sapiens_hsa045400.72978813
62Thyroid hormone signaling pathway_Homo sapiens_hsa049190.71879674
63Choline metabolism in cancer_Homo sapiens_hsa052310.71742429
64Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.70604750
65Insulin secretion_Homo sapiens_hsa049110.70570499
66Longevity regulating pathway - mammal_Homo sapiens_hsa042110.70502158
67TNF signaling pathway_Homo sapiens_hsa046680.69468277
68cAMP signaling pathway_Homo sapiens_hsa040240.69173236
69Calcium signaling pathway_Homo sapiens_hsa040200.67478888
70Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.67407445
71Neurotrophin signaling pathway_Homo sapiens_hsa047220.67345642
72Non-small cell lung cancer_Homo sapiens_hsa052230.67162051
73cGMP-PKG signaling pathway_Homo sapiens_hsa040220.66739152
74Vascular smooth muscle contraction_Homo sapiens_hsa042700.66558106
75Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.66005591
76HIF-1 signaling pathway_Homo sapiens_hsa040660.64493498
77Adipocytokine signaling pathway_Homo sapiens_hsa049200.64136496
78Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.63931342
79Circadian entrainment_Homo sapiens_hsa047130.62758139
80Glycosaminoglycan degradation_Homo sapiens_hsa005310.61662880
81Complement and coagulation cascades_Homo sapiens_hsa046100.61470403
82Dorso-ventral axis formation_Homo sapiens_hsa043200.61401915
83Salivary secretion_Homo sapiens_hsa049700.61078573
84Thyroid hormone synthesis_Homo sapiens_hsa049180.59346796
85Insulin signaling pathway_Homo sapiens_hsa049100.59307572
86Phospholipase D signaling pathway_Homo sapiens_hsa040720.58627684
87AMPK signaling pathway_Homo sapiens_hsa041520.58550872
88Phosphatidylinositol signaling system_Homo sapiens_hsa040700.55499282
89Aldosterone synthesis and secretion_Homo sapiens_hsa049250.54984097
90Acute myeloid leukemia_Homo sapiens_hsa052210.54973373
91Cholinergic synapse_Homo sapiens_hsa047250.54921464
92Shigellosis_Homo sapiens_hsa051310.54304354
93Prolactin signaling pathway_Homo sapiens_hsa049170.53506543
94Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.53123087
95Glutamatergic synapse_Homo sapiens_hsa047240.53117932
96Lysosome_Homo sapiens_hsa041420.52328469
97Amphetamine addiction_Homo sapiens_hsa050310.51931611
98Ovarian steroidogenesis_Homo sapiens_hsa049130.51513885
99p53 signaling pathway_Homo sapiens_hsa041150.51403068
100Endocytosis_Homo sapiens_hsa041440.51072945
101Vibrio cholerae infection_Homo sapiens_hsa051100.51006505
102Pertussis_Homo sapiens_hsa051330.50698033
103Bile secretion_Homo sapiens_hsa049760.50404850
104Ras signaling pathway_Homo sapiens_hsa040140.50130360
105Inositol phosphate metabolism_Homo sapiens_hsa005620.49781056
106Thyroid cancer_Homo sapiens_hsa052160.49770654
107Salmonella infection_Homo sapiens_hsa051320.49563742
108ErbB signaling pathway_Homo sapiens_hsa040120.49503421
109N-Glycan biosynthesis_Homo sapiens_hsa005100.49495537
110Glucagon signaling pathway_Homo sapiens_hsa049220.49054991
111Oxytocin signaling pathway_Homo sapiens_hsa049210.47121656
112Gastric acid secretion_Homo sapiens_hsa049710.45744483
113Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.45734837
114Renin-angiotensin system_Homo sapiens_hsa046140.44633407
115Hepatitis B_Homo sapiens_hsa051610.44588070
116Phagosome_Homo sapiens_hsa041450.44517527
117FoxO signaling pathway_Homo sapiens_hsa040680.41521391
118Prion diseases_Homo sapiens_hsa050200.39984626
119MAPK signaling pathway_Homo sapiens_hsa040100.39972616
120Lysine degradation_Homo sapiens_hsa003100.39061953
121Fatty acid biosynthesis_Homo sapiens_hsa000610.38765281

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