COL12A1

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 XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix. Alternatively spliced transcript variants encoding different isoforms have been identified. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* collagen fibril organization (GO:0030199)7.67182912
2protein heterotrimerization (GO:0070208)7.42362163
3bone trabecula formation (GO:0060346)7.18490352
4sequestering of extracellular ligand from receptor (GO:0035581)7.03802767
5chondrocyte proliferation (GO:0035988)6.75228794
6skin morphogenesis (GO:0043589)5.96969979
7axon extension involved in axon guidance (GO:0048846)5.33118231
8neuron projection extension involved in neuron projection guidance (GO:1902284)5.33118231
9* endodermal cell differentiation (GO:0035987)5.21802832
10negative regulation of fatty acid transport (GO:2000192)5.03748287
11cell adhesion mediated by integrin (GO:0033627)4.84783976
12* collagen metabolic process (GO:0032963)4.83260646
13mesenchymal-epithelial cell signaling (GO:0060638)4.82864829
14* collagen catabolic process (GO:0030574)4.76886638
15type B pancreatic cell proliferation (GO:0044342)4.73076368
16cartilage development involved in endochondral bone morphogenesis (GO:0060351)4.63803303
17cellular response to vitamin D (GO:0071305)4.58611033
18hemidesmosome assembly (GO:0031581)4.58250973
19* multicellular organismal macromolecule metabolic process (GO:0044259)4.50606471
20positive regulation of endothelial cell apoptotic process (GO:2000353)4.38786554
21glomerular basement membrane development (GO:0032836)4.36303461
22* multicellular organismal catabolic process (GO:0044243)4.34799828
23cellular response to vitamin (GO:0071295)4.33208675
24chondrocyte development (GO:0002063)4.30144055
25* multicellular organismal metabolic process (GO:0044236)4.23068723
26wound healing, spreading of epidermal cells (GO:0035313)4.21243569
27craniofacial suture morphogenesis (GO:0097094)4.19241734
28extracellular regulation of signal transduction (GO:1900115)4.19104407
29extracellular negative regulation of signal transduction (GO:1900116)4.19104407
30regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)4.16919915
31* extracellular matrix disassembly (GO:0022617)4.11466887
32extracellular matrix assembly (GO:0085029)4.05568083
33planar cell polarity pathway involved in neural tube closure (GO:0090179)4.00879989
34peptidyl-proline hydroxylation (GO:0019511)4.00375129
35extracellular fibril organization (GO:0043206)3.97231485
36dermatan sulfate biosynthetic process (GO:0030208)3.90490128
37negative regulation of smooth muscle cell migration (GO:0014912)3.84227255
38regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.81956098
39cell-substrate junction assembly (GO:0007044)3.75164920
40metanephric mesenchyme development (GO:0072075)3.74056408
41adhesion of symbiont to host (GO:0044406)3.71211343
42fibril organization (GO:0097435)3.68548057
43G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071993.68369408
44negative regulation of chondrocyte differentiation (GO:0032331)3.66525490
45epithelial cell-cell adhesion (GO:0090136)3.63257549
46embryonic cranial skeleton morphogenesis (GO:0048701)3.61531315
47substrate-dependent cell migration (GO:0006929)3.61364925
48kidney mesenchyme development (GO:0072074)3.54523512
49negative regulation of embryonic development (GO:0045992)3.53331475
50dermatan sulfate metabolic process (GO:0030205)3.52721394
51tooth mineralization (GO:0034505)3.52039418
52endocardial cushion development (GO:0003197)3.51896716
53positive regulation of fibroblast migration (GO:0010763)3.50789531
54plasma membrane repair (GO:0001778)3.45762390
55protein hydroxylation (GO:0018126)3.44523998
56hippo signaling (GO:0035329)3.43987744
57insulin-like growth factor receptor signaling pathway (GO:0048009)3.40668769
58wound healing, spreading of cells (GO:0044319)3.39395984
59apoptotic cell clearance (GO:0043277)3.38318355
60epoxygenase P450 pathway (GO:0019373)3.37489805
61blood vessel maturation (GO:0001955)3.35041412
62positive regulation of epithelial to mesenchymal transition (GO:0010718)3.34055921
63cellular response to amino acid stimulus (GO:0071230)3.33082829
64protein localization to cell surface (GO:0034394)3.31859444
65cranial suture morphogenesis (GO:0060363)3.30614725
66endothelial cell morphogenesis (GO:0001886)3.28429954
67heparan sulfate proteoglycan biosynthetic process (GO:0015012)3.27481408
68* extracellular matrix organization (GO:0030198)3.24609985
69positive regulation of extracellular matrix organization (GO:1903055)3.24356474
70positive regulation of osteoblast proliferation (GO:0033690)3.24345141
71* extracellular structure organization (GO:0043062)3.23262216
72basement membrane organization (GO:0071711)3.21536191
73keratan sulfate catabolic process (GO:0042340)3.20018777
74regulation of branching involved in salivary gland morphogenesis (GO:0060693)3.19088637
75negative chemotaxis (GO:0050919)3.17921368
76smooth muscle tissue development (GO:0048745)3.13192421
77positive regulation of macrophage activation (GO:0043032)3.09526405
78negative regulation of axon extension involved in axon guidance (GO:0048843)3.09207815
79vascular endothelial growth factor signaling pathway (GO:0038084)3.08524699
80middle ear morphogenesis (GO:0042474)3.06253846
81outer ear morphogenesis (GO:0042473)3.05973262
82pericardium development (GO:0060039)3.04360526
83stress fiber assembly (GO:0043149)3.03804897
84virion attachment to host cell (GO:0019062)3.03368756
85adhesion of symbiont to host cell (GO:0044650)3.03368756
86muscle cell migration (GO:0014812)3.03076328
87positive regulation of mesenchymal cell proliferation (GO:0002053)3.02283440
88polarized epithelial cell differentiation (GO:0030859)3.02146984
89hypotonic response (GO:0006971)3.02015636
90negative regulation of adherens junction organization (GO:1903392)3.01567805
91negative regulation of focal adhesion assembly (GO:0051895)3.01567805
92negative regulation of cell junction assembly (GO:1901889)3.01567805
93camera-type eye morphogenesis (GO:0048593)3.00254037
94retina vasculature morphogenesis in camera-type eye (GO:0061299)2.98354478
95cell migration involved in sprouting angiogenesis (GO:0002042)2.95213640
96negative regulation of cartilage development (GO:0061037)2.94570560
97substrate adhesion-dependent cell spreading (GO:0034446)2.93803816
98cellular response to interferon-alpha (GO:0035457)2.93250374
99eye morphogenesis (GO:0048592)2.92028809
100protein retention in ER lumen (GO:0006621)2.91917460
101omega-hydroxylase P450 pathway (GO:0097267)2.91602093
102endochondral ossification (GO:0001958)2.90586070
103replacement ossification (GO:0036075)2.90586070
104trabecula formation (GO:0060343)2.89427700
105negative regulation of BMP signaling pathway (GO:0030514)2.88851324
106positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr2.88122887
107negative regulation of catenin import into nucleus (GO:0035414)2.87877291
108regulation of gastrulation (GO:0010470)2.86918954
109barbed-end actin filament capping (GO:0051016)2.85339082
110regulation of establishment of planar polarity (GO:0090175)2.85309960
111face morphogenesis (GO:0060325)2.84831605
112cell migration involved in heart development (GO:0060973)2.84668294
113maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.84532774
114dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.84246245
115axis elongation (GO:0003401)2.84208554
116regulation of tight junction assembly (GO:2000810)2.84149579
117regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition 2.83303669
118regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.83097301
119Golgi transport vesicle coating (GO:0048200)2.82520272
120COPI coating of Golgi vesicle (GO:0048205)2.82520272
121paraxial mesoderm development (GO:0048339)2.82041021
122Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.81200765
123positive regulation of blood vessel endothelial cell migration (GO:0043536)2.81035722
124heparan sulfate proteoglycan metabolic process (GO:0030201)2.79747747
125adherens junction assembly (GO:0034333)2.79485009
126regulation of cartilage development (GO:0061035)2.78666780
127regulation of axon extension involved in axon guidance (GO:0048841)2.76321996
128focal adhesion assembly (GO:0048041)2.75954027
129cell-substrate adherens junction assembly (GO:0007045)2.75954027
130regulation of extracellular matrix disassembly (GO:0010715)2.74663034
131regulation of osteoblast proliferation (GO:0033688)2.73860222
132establishment of planar polarity (GO:0001736)2.72402151
133establishment of tissue polarity (GO:0007164)2.72402151
134venous blood vessel morphogenesis (GO:0048845)2.72166766
135negative regulation of osteoblast proliferation (GO:0033689)2.70477928
136regulation of smooth muscle cell migration (GO:0014910)2.69559544
137cochlea morphogenesis (GO:0090103)2.69108707
138mesodermal cell differentiation (GO:0048333)2.67511513
139negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)2.67000983

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human7.04900425
2TP63_17297297_ChIP-ChIP_HaCaT_Human4.73714861
3RARG_19884340_ChIP-ChIP_MEFs_Mouse4.37793655
4PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse4.34377537
5WT1_19549856_ChIP-ChIP_CCG9911_Human3.27864557
6RUNX2_24764292_ChIP-Seq_MC3T3_Mouse3.07736071
7* CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse2.88185661
8NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.81065972
9ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.75908426
10TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.70761867
11CJUN_26792858_Chip-Seq_BT549_Human2.68701492
12CLOCK_20551151_ChIP-Seq_293T_Human2.55632130
13* CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse2.50607236
14* BRD4_25478319_ChIP-Seq_HGPS_Human2.43575059
15TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.38840307
16NRF2_20460467_ChIP-Seq_MEFs_Mouse2.22206415
17NFE2L2_20460467_ChIP-Seq_MEFs_Mouse2.22206415
18RBPJ_22232070_ChIP-Seq_NCS_Mouse2.21599324
19* WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse2.21474469
20EGR1_19374776_ChIP-ChIP_THP-1_Human2.17013013
21EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.14497706
22EP300_21415370_ChIP-Seq_HL-1_Mouse2.13203993
23SMAD_19615063_ChIP-ChIP_OVARY_Human2.07599314
24HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.96908309
25* CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.95010447
26HIF1A_21447827_ChIP-Seq_MCF-7_Human1.93535828
27SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.89024403
28TP53_18474530_ChIP-ChIP_U2OS_Human1.82008908
29TP53_16413492_ChIP-PET_HCT116_Human1.80480907
30CDX2_19796622_ChIP-Seq_MESCs_Mouse1.78477063
31* TP53_20018659_ChIP-ChIP_R1E_Mouse1.69577696
32P300_27058665_Chip-Seq_ZR-75-30cells_Human1.61518844
33* EED_16625203_ChIP-ChIP_MESCs_Mouse1.61051575
34* SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.59524190
35* SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.59524190
36* PPAR_26484153_Chip-Seq_NCI-H1993_Human1.59173999
37* SMC1_22415368_ChIP-Seq_MEFs_Mouse1.55313118
38ESR1_15608294_ChIP-ChIP_MCF-7_Human1.54787991
39* RNF2_18974828_ChIP-Seq_MESCs_Mouse1.53297682
40* EZH2_18974828_ChIP-Seq_MESCs_Mouse1.53297682
41GATA2_21666600_ChIP-Seq_HMVEC_Human1.48361288
42FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.47978512
43TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.45410726
44SOX9_24532713_ChIP-Seq_HFSC_Mouse1.42431413
45ELK3_25401928_ChIP-Seq_HUVEC_Human1.40326891
46UBF1/2_26484160_Chip-Seq_HMECs_Human1.38465427
47* JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.37915840
48* TP53_23651856_ChIP-Seq_MEFs_Mouse1.36816068
49* SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.34591836
50NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.31874327
51ZNF217_24962896_ChIP-Seq_MCF-7_Human1.31763738
52* JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.31165933
53SALL4_18804426_ChIP-ChIP_XEN_Mouse1.28641954
54* RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.27644389
55* SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.26250231
56* SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.26043073
57ESR1_21235772_ChIP-Seq_MCF-7_Human1.25873787
58ISL1_27105846_Chip-Seq_CPCs_Mouse1.25141212
59TP53_22127205_ChIP-Seq_IMR90_Human1.24229708
60SOX2_20726797_ChIP-Seq_SW620_Human1.24048531
61FOXO3_23340844_ChIP-Seq_DLD1_Human1.23718092
62* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.23054188
63* PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.22237235
64CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.22055773
65ESR2_21235772_ChIP-Seq_MCF-7_Human1.21313148
66THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.20873140
67DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.20491817
68SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.17214948
69* SA1_22415368_ChIP-Seq_MEFs_Mouse1.16628229
70TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.15629669
71SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.14602942
72FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.13753212
73* SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.13368529
74* MTF2_20144788_ChIP-Seq_MESCs_Mouse1.12809850
75* ATF3_27146783_Chip-Seq_COLON_Human1.12327587
76CTNNB1_20460455_ChIP-Seq_HCT116_Human1.12294131
77AHR_22903824_ChIP-Seq_MCF-7_Human1.10600297
78UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.09200719
79* MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.08834128
80ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.08449993
81ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.07948749
82JARID2_20075857_ChIP-Seq_MESCs_Mouse1.07337477
83ZFP281_18757296_ChIP-ChIP_E14_Mouse1.06757237
84* PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.06383990
85RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.06233048
86* SMC3_22415368_ChIP-Seq_MEFs_Mouse1.06020784
87NFIB_24661679_ChIP-Seq_LUNG_Mouse1.04007619
88TBX20_22328084_ChIP-Seq_HEART_Mouse1.03566714
89TBX20_22080862_ChIP-Seq_HEART_Mouse1.03566714
90ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.03416228
91KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.03076962
92TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.03065230
93ZFP281_27345836_Chip-Seq_ESCs_Mouse1.03051467
94P63_26484246_Chip-Seq_KERATINOCYTES_Human1.02257870
95KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.01058354
96PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.00951409
97STAT6_21828071_ChIP-Seq_BEAS2B_Human1.00491403
98PIAS1_25552417_ChIP-Seq_VCAP_Human0.98079737
99SALL1_21062744_ChIP-ChIP_HESCs_Human0.97936252
100ARNT_22903824_ChIP-Seq_MCF-7_Human0.96077032
101ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.96003907
102WT1_25993318_ChIP-Seq_PODOCYTE_Human0.95659424
103NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.95556199
104TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.95508121
105FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human0.95355048
106BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.94170134
107RXR_22108803_ChIP-Seq_LS180_Human0.93796836
108* NFI_21473784_ChIP-Seq_ESCs_Mouse0.93778356
109TP63_23658742_ChIP-Seq_EP156T_Human0.93332989
110SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.92711674
111TCF4_18268006_ChIP-ChIP_LS174T_Human0.92554271
112* NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.91724241
113FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.90674450
114* SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.89882776
115* EZH2_27304074_Chip-Seq_ESCs_Mouse0.89502778
116KDM2B_26808549_Chip-Seq_K562_Human0.89057093
117RNF2_27304074_Chip-Seq_ESCs_Mouse0.88756409
118KDM2B_26808549_Chip-Seq_SUP-B15_Human0.85325099
119RACK7_27058665_Chip-Seq_MCF-7_Human0.83981114

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen9.15062286
2MP0005275_abnormal_skin_tensile5.91656783
3MP0005503_abnormal_tendon_morphology5.62962170
4MP0003705_abnormal_hypodermis_morpholog3.96670739
5MP0003279_aneurysm3.89638718
6MP0001958_emphysema3.10438379
7MP0009384_cardiac_valve_regurgitation2.78087363
8MP0006054_spinal_hemorrhage2.68407888
9MP0005257_abnormal_intraocular_pressure2.64698924
10MP0004272_abnormal_basement_membrane2.50550443
11MP0005623_abnormal_meninges_morphology2.42980447
12MP0005508_abnormal_skeleton_morphology2.25838524
13MP0002060_abnormal_skin_morphology2.15384932
14MP0010352_gastrointestinal_tract_polyps2.12192430
15MP0003566_abnormal_cell_adhesion2.05912269
16MP0009250_abnormal_appendicular_skeleto2.01787661
17MP0001542_abnormal_bone_strength1.97420666
18MP0002295_abnormal_pulmonary_circulatio1.93380780
19MP0003385_abnormal_body_wall1.90853699
20MP0005023_abnormal_wound_healing1.83570670
21MP0010030_abnormal_orbit_morphology1.72908653
22MP0002896_abnormal_bone_mineralization1.71577832
23MP0002108_abnormal_muscle_morphology1.69784136
24MP0001243_abnormal_dermal_layer1.65673393
25MP0003091_abnormal_cell_migration1.63501692
26MP0009053_abnormal_anal_canal1.54955699
27MP0001299_abnormal_eye_distance/1.54764486
28MP0004134_abnormal_chest_morphology1.50522413
29MP0003950_abnormal_plasma_membrane1.49139138
30MP0000013_abnormal_adipose_tissue1.47658659
31MP0001348_abnormal_lacrimal_gland1.38701774
32MP0000733_abnormal_muscle_development1.38238165
33MP0002282_abnormal_trachea_morphology1.33382842
34MP0002115_abnormal_skeleton_extremities1.32455587
35MP0003283_abnormal_digestive_organ1.31130690
36MP0002932_abnormal_joint_morphology1.30337275
37MP0005390_skeleton_phenotype1.29432501
38MP0000767_abnormal_smooth_muscle1.28837635
39MP0000428_abnormal_craniofacial_morphol1.27497984
40MP0000534_abnormal_ureter_morphology1.24117250
41MP0000163_abnormal_cartilage_morphology1.21104507
42MP0003942_abnormal_urinary_system1.17847959
43MP0003755_abnormal_palate_morphology1.17302676
44MP0004858_abnormal_nervous_system1.15244543
45MP0002113_abnormal_skeleton_development1.13010019
46MP0002933_joint_inflammation1.11142605
47MP0010386_abnormal_urinary_bladder1.08410539
48MP0003937_abnormal_limbs/digits/tail_de1.05128228
49MP0003941_abnormal_skin_development1.04229262
50MP0002998_abnormal_bone_remodeling1.03951038
51MP0005076_abnormal_cell_differentiation1.02817192
52MP0002168_other_aberrant_phenotype1.02139719
53MP0003115_abnormal_respiratory_system1.01813719
54MP0002109_abnormal_limb_morphology0.97678169
55MP0003045_fibrosis0.97389640
56MP0000432_abnormal_head_morphology0.96805487
57MP0002877_abnormal_melanocyte_morpholog0.95826545
58MP0003935_abnormal_craniofacial_develop0.95586575
59MP0002233_abnormal_nose_morphology0.94762945
60MP0005171_absent_coat_pigmentation0.93657991
61MP0000049_abnormal_middle_ear0.91839347
62MP0003300_gastrointestinal_ulcer0.88252772
63MP0002116_abnormal_craniofacial_bone0.86907090
64MP0003795_abnormal_bone_structure0.84521867
65MP0000003_abnormal_adipose_tissue0.82648317
66MP0002089_abnormal_postnatal_growth/wei0.82201176
67MP0005367_renal/urinary_system_phenotyp0.81732754
68MP0000516_abnormal_urinary_system0.81732754
69MP0000762_abnormal_tongue_morphology0.79409971
70MP0001879_abnormal_lymphatic_vessel0.77726587
71MP0002111_abnormal_tail_morphology0.76925745
72MP0002177_abnormal_outer_ear0.75577260
73MP0001533_abnormal_skeleton_physiology0.74787307
74MP0002128_abnormal_blood_circulation0.74748257
75MP0009780_abnormal_chondrocyte_physiolo0.73963837
76MP0002254_reproductive_system_inflammat0.73896965
77MP0000579_abnormal_nail_morphology0.73776757
78MP0002114_abnormal_axial_skeleton0.73038157
79MP0002249_abnormal_larynx_morphology0.72347577
80MP0000537_abnormal_urethra_morphology0.70613762
81MP0000538_abnormal_urinary_bladder0.70595249
82MP0003122_maternal_imprinting0.69963322
83MP0000750_abnormal_muscle_regeneration0.69874509
84MP0000751_myopathy0.69755265
85MP0001661_extended_life_span0.68248796
86MP0001177_atelectasis0.68113343
87MP0001614_abnormal_blood_vessel0.68110330
88MP0000749_muscle_degeneration0.67154218
89MP0000462_abnormal_digestive_system0.65605613
90MP0001915_intracranial_hemorrhage0.65555323
91MP0002697_abnormal_eye_size0.64026686
92MP0005197_abnormal_uvea_morphology0.63696996
93MP0005595_abnormal_vascular_smooth0.62927380
94MP0005388_respiratory_system_phenotype0.61961360
95MP0002133_abnormal_respiratory_system0.61961360
96MP0005193_abnormal_anterior_eye0.61701520
97MP0001175_abnormal_lung_morphology0.59991710
98MP0000569_abnormal_digit_pigmentation0.59688623
99MP0002925_abnormal_cardiovascular_devel0.59336125
100MP0005409_darkened_coat_color0.58116457
101MP0010771_integument_phenotype0.57189176
102MP0003448_altered_tumor_morphology0.57085346
103MP0004883_abnormal_blood_vessel0.54901948
104MP0000759_abnormal_skeletal_muscle0.54395745
105MP0004087_abnormal_muscle_fiber0.54159932
106MP0005369_muscle_phenotype0.53117652
107MP0001340_abnormal_eyelid_morphology0.52930717
108MP0004233_abnormal_muscle_weight0.52845056
109MP0005220_abnormal_exocrine_pancreas0.51670064
110MP0002092_abnormal_eye_morphology0.51601783
111MP0005164_abnormal_response_to0.51021231
112MP0000467_abnormal_esophagus_morphology0.50845406
113MP0010368_abnormal_lymphatic_system0.50662274
114MP0004084_abnormal_cardiac_muscle0.50202897
115MP0001849_ear_inflammation0.49648459
116MP0006138_congestive_heart_failure0.48726904

Predicted human phenotypes

RankGene SetZ-score
1Premature rupture of membranes (HP:0001788)8.99298640
2Protrusio acetabuli (HP:0003179)8.91066096
3Peritonitis (HP:0002586)5.74728696
4Aortic dissection (HP:0002647)5.60915795
5Atrophic scars (HP:0001075)5.38564973
6Shallow orbits (HP:0000586)5.11077083
7Soft skin (HP:0000977)4.93389019
8Ankle contracture (HP:0006466)4.81490685
9Abnormality of dentin (HP:0010299)4.62348603
10Fragile skin (HP:0001030)4.43761949
11Genu recurvatum (HP:0002816)4.39793261
12Bladder diverticulum (HP:0000015)4.36812848
13Dilatation of the ascending aorta (HP:0005111)4.29239950
14Broad metatarsal (HP:0001783)4.08032576
15Neonatal short-limb short stature (HP:0008921)4.07544726
16Mitral valve prolapse (HP:0001634)3.99148226
17Aortic aneurysm (HP:0004942)3.90464868
18Cerebral aneurysm (HP:0004944)3.71351597
19Biconcave vertebral bodies (HP:0004586)3.70217662
20Cervical subluxation (HP:0003308)3.66475572
21Blue sclerae (HP:0000592)3.59098980
22Follicular hyperkeratosis (HP:0007502)3.58854729
23Wormian bones (HP:0002645)3.50808987
24Infantile muscular hypotonia (HP:0008947)3.36301868
25Bowel diverticulosis (HP:0005222)3.32921946
26Type 1 muscle fiber predominance (HP:0003803)3.31315784
27Wrist flexion contracture (HP:0001239)3.12586585
28Vertebral compression fractures (HP:0002953)3.08689343
29Hyperextensible skin (HP:0000974)3.04634038
30Abnormal delivery (HP:0001787)3.02232818
31Ectopia lentis (HP:0001083)2.87182214
32Spinal rigidity (HP:0003306)2.85932941
33Slender build (HP:0001533)2.79850803
34Wide anterior fontanel (HP:0000260)2.68833137
35Abnormality of the peritoneum (HP:0002585)2.67469783
36Deviation of the hallux (HP:0010051)2.65324260
37Breech presentation (HP:0001623)2.62218554
38Hallux valgus (HP:0001822)2.60391419
39Abnormality of the acetabulum (HP:0003170)2.60190065
40Mesomelia (HP:0003027)2.58692023
41Elbow flexion contracture (HP:0002987)2.57100052
42Overgrowth (HP:0001548)2.57002680
43Tibial bowing (HP:0002982)2.52299952
44Joint laxity (HP:0001388)2.51044011
45Vascular tortuosity (HP:0004948)2.49958789
46Broad ribs (HP:0000885)2.49789755
47Osteoarthritis (HP:0002758)2.43616586
48Nonimmune hydrops fetalis (HP:0001790)2.41172034
49Increased connective tissue (HP:0009025)2.40185846
50Ulnar bowing (HP:0003031)2.38139853
51Thin bony cortex (HP:0002753)2.37115386
52Osteolytic defects of the phalanges of the hand (HP:0009771)2.36127320
53Osteolytic defects of the hand bones (HP:0009699)2.36127320
54Mild short stature (HP:0003502)2.34919874
55Short 4th metacarpal (HP:0010044)2.34771149
56Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.34771149
57Buphthalmos (HP:0000557)2.31616761
58Mitral regurgitation (HP:0001653)2.31249777
59Spondylolisthesis (HP:0003302)2.30762150
60Morphological abnormality of the middle ear (HP:0008609)2.29933171
61Femoral bowing (HP:0002980)2.29796497
62Camptodactyly of toe (HP:0001836)2.28650237
63Aortic valve stenosis (HP:0001650)2.26586898
64Mildly elevated creatine phosphokinase (HP:0008180)2.25278858
65Bell-shaped thorax (HP:0001591)2.25065660
66Broad long bones (HP:0005622)2.24750952
67Mitral stenosis (HP:0001718)2.23359514
68Aneurysm (HP:0002617)2.21440997
69Increased variability in muscle fiber diameter (HP:0003557)2.21114558
70Hypoventilation (HP:0002791)2.17994228
71Joint stiffness (HP:0001387)2.14186126
72Spinal cord lesions (HP:0100561)2.10835798
73Syringomyelia (HP:0003396)2.10835798
74Aortic regurgitation (HP:0001659)2.10806222
75Natal tooth (HP:0000695)2.10657626
76Round ear (HP:0100830)2.09792029
77Venous insufficiency (HP:0005293)2.08225511
78Decreased skull ossification (HP:0004331)2.06754788
79Arterial tortuosity (HP:0005116)2.06232996
80Radial bowing (HP:0002986)2.06084520
81Knee flexion contracture (HP:0006380)2.03716083
82Flat cornea (HP:0007720)2.03014628
83Venous abnormality (HP:0002624)2.02940468
84Coronal craniosynostosis (HP:0004440)2.01928958
85Congenital glaucoma (HP:0001087)2.00468839
86Ulnar deviation of the wrist (HP:0003049)1.94850109
87Disproportionate tall stature (HP:0001519)1.93812309
88Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.93325737
89Hypoplasia of the iris (HP:0007676)1.91674411
90Microglossia (HP:0000171)1.91500414
91Ovoid vertebral bodies (HP:0003300)1.90638004
92Asymmetry of the thorax (HP:0001555)1.89544015
93Abnormality of skeletal muscle fiber size (HP:0012084)1.89459815
94Bowing of the arm (HP:0006488)1.88724732
95Bowed forearm bones (HP:0003956)1.88724732
96Redundant skin (HP:0001582)1.88196520
97Protruding ear (HP:0000411)1.87828726
98Coxa vara (HP:0002812)1.87597518
99Increased density of long bones (HP:0006392)1.86934188
100Abnormality of skull ossification (HP:0002703)1.86555138
101Long toe (HP:0010511)1.86414721
102Abnormality of the 4th metacarpal (HP:0010012)1.85913523
103Platyspondyly (HP:0000926)1.83771569
104Inguinal hernia (HP:0000023)1.83396533
105Abnormality of the calcaneus (HP:0008364)1.82544343
106Striae distensae (HP:0001065)1.81190528
107Absent frontal sinuses (HP:0002688)1.81010535
108Delayed cranial suture closure (HP:0000270)1.80261792
109Delayed closure of the anterior fontanelle (HP:0001476)1.79435323
110Thin skin (HP:0000963)1.78879289
111Cardiovascular calcification (HP:0011915)1.78575499
112Short nail (HP:0001799)1.78180530
113Limited hip movement (HP:0008800)1.77923894
114Spinal cord compression (HP:0002176)1.77622024
115Osteopenia (HP:0000938)1.77031041
116Flexion contracture of toe (HP:0005830)1.74920571
117Joint contractures involving the joints of the feet (HP:0100492)1.74920571
118Generalized amyotrophy (HP:0003700)1.73088285
119Renal duplication (HP:0000075)1.72056897
120Cupped ribs (HP:0000887)1.71278616

Predicted kinase interactions (KEA)

RankGene SetZ-score
1DDR26.01335773
2TTN4.73698831
3PDGFRA3.99095527
4LATS13.72103629
5TRIB33.42776266
6SIK13.07746824
7LATS22.96142418
8EPHA32.88489576
9PKN22.49789184
10EPHB22.21370239
11PAK22.15735921
12RIPK12.08379068
13AKT31.95409706
14ERN11.94341578
15PAK31.87905113
16TRPM71.73230800
17PTK21.72082886
18FRK1.61742352
19FER1.58759162
20BMX1.57306056
21PIK3CA1.55646357
22STK31.53365075
23DMPK1.46409497
24FGFR11.44788347
25PDGFRB1.41530566
26FGFR21.33678907
27LRRK21.22522814
28PTK61.21606753
29MAP3K61.20809628
30PAK41.19932615
31MTOR1.18642042
32MST1R1.18361437
33TGFBR21.15742442
34MET1.11143992
35ROCK11.11050006
36NEK91.11035678
37GRK71.10358393
38PTK2B1.08320637
39TESK11.07958192
40ICK1.07607847
41NTRK11.05158806
42PLK21.04999607
43EEF2K0.96867770
44PIK3CG0.93402786
45SCYL20.91295635
46JAK10.88276306
47LIMK10.86372681
48RPS6KA40.84214942
49MAP3K100.83934289
50NUAK10.82949221
51MOS0.81166874
52FLT30.79034851
53MYLK0.78687520
54MAPK70.78683355
55ROCK20.76483430
56INSR0.74728834
57PRKCH0.71533271
58PIM20.71511149
59ILK0.70249362
60PRKD20.66180249
61EPHA20.65626601
62STK38L0.63342783
63CDK60.63222316
64RET0.61926094
65ERBB30.60656254
66FGFR30.59929481
67EPHB10.59833901
68MELK0.59587426
69RPS6KC10.55968674
70RPS6KL10.55968674
71KIT0.55888996
72CDC42BPA0.55364192
73CAMK1D0.54315720
74GRK50.54006427
75ABL20.53202068
76CAMK2G0.52361483
77SMG10.52135169
78ADRBK10.51971010
79MAP2K10.51636488
80PRKD10.48892037
81PRKG20.47798425
82PRPF4B0.47064912
83SRC0.45773592
84ARAF0.45284438
85MAPKAPK30.44164144
86KSR20.44080785
87PAK10.43727223
88FGFR40.43284555
89DYRK1B0.42159219
90PRKD30.41984208
91CDK80.40935302
92CAMKK10.40361422
93MARK20.39916635
94CDK120.39733609
95CAMK1G0.39519258
96RPS6KA60.38687377
97TAOK20.38511798
98MAP2K30.37851736
99CLK10.37340587
100MAPKAPK50.37281503
101MAP3K70.37120755
102DAPK30.35793864
103CSF1R0.33234762
104MAPK10.31565018
105MAPK40.30830378
106CAMK2B0.30657222
107MAPKAPK20.29598749
108IGF1R0.28703389
109PRKCE0.28681005
110ERBB40.28667580
111PLK30.28105608
112FYN0.27686583
113TGFBR10.27479334
114ERBB20.27081284
115PAK60.27003023
116MAP3K80.26423510
117CDK140.25962533
118MAP3K30.25740842
119STK100.23829427
120RPS6KA20.22786559
121CDK150.22604054
122ABL10.22542122
123STK380.20682841
124JAK30.20661109
125WNK10.20248167
126GSK3A0.20170836

Predicted pathways (KEGG)

RankGene SetZ-score
1ECM-receptor interaction_Homo sapiens_hsa045125.18468110
2Focal adhesion_Homo sapiens_hsa045103.49670470
3* Protein digestion and absorption_Homo sapiens_hsa049742.81741824
4Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.75475520
5Proteoglycans in cancer_Homo sapiens_hsa052052.48811124
6Amoebiasis_Homo sapiens_hsa051462.43616458
7Malaria_Homo sapiens_hsa051442.32957525
8AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049332.29428237
9Bladder cancer_Homo sapiens_hsa052192.12913747
10Adherens junction_Homo sapiens_hsa045202.12392618
11TGF-beta signaling pathway_Homo sapiens_hsa043502.06440649
12Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.03302904
13Bacterial invasion of epithelial cells_Homo sapiens_hsa051002.01927932
14MicroRNAs in cancer_Homo sapiens_hsa052062.01704382
15Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.97672586
16Dilated cardiomyopathy_Homo sapiens_hsa054141.93688929
17Hippo signaling pathway_Homo sapiens_hsa043901.90551734
18PI3K-Akt signaling pathway_Homo sapiens_hsa041511.83979072
19Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.81465346
20Small cell lung cancer_Homo sapiens_hsa052221.81196975
21Basal cell carcinoma_Homo sapiens_hsa052171.79975378
22p53 signaling pathway_Homo sapiens_hsa041151.52997360
23Melanoma_Homo sapiens_hsa052181.51450148
24Hedgehog signaling pathway_Homo sapiens_hsa043401.51379431
25Regulation of actin cytoskeleton_Homo sapiens_hsa048101.50923393
26Chronic myeloid leukemia_Homo sapiens_hsa052201.49583529
27Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.37740809
28Platelet activation_Homo sapiens_hsa046111.26624209
29Glioma_Homo sapiens_hsa052141.25204012
30Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.22582823
31Leukocyte transendothelial migration_Homo sapiens_hsa046701.20453064
32Axon guidance_Homo sapiens_hsa043601.20110768
33Wnt signaling pathway_Homo sapiens_hsa043101.19245532
34Prostate cancer_Homo sapiens_hsa052151.19158637
35Shigellosis_Homo sapiens_hsa051311.13997867
36Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.12041123
37Pancreatic cancer_Homo sapiens_hsa052121.11962525
38Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.11357168
39Pathways in cancer_Homo sapiens_hsa052001.08401219
40Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.08184714
41Rap1 signaling pathway_Homo sapiens_hsa040151.06551184
42Other glycan degradation_Homo sapiens_hsa005111.04562587
43Phagosome_Homo sapiens_hsa041450.98627669
44Tight junction_Homo sapiens_hsa045300.97041056
45HTLV-I infection_Homo sapiens_hsa051660.93469444
46Melanogenesis_Homo sapiens_hsa049160.92545523
47Prion diseases_Homo sapiens_hsa050200.91339220
48Viral myocarditis_Homo sapiens_hsa054160.89209449
49TNF signaling pathway_Homo sapiens_hsa046680.88622213
50Renin-angiotensin system_Homo sapiens_hsa046140.87650827
51Toxoplasmosis_Homo sapiens_hsa051450.83484275
52Central carbon metabolism in cancer_Homo sapiens_hsa052300.82911271
53Renal cell carcinoma_Homo sapiens_hsa052110.81058027
54Colorectal cancer_Homo sapiens_hsa052100.81002236
55mTOR signaling pathway_Homo sapiens_hsa041500.80459137
56Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.78737029
57Thyroid cancer_Homo sapiens_hsa052160.77089465
58Gap junction_Homo sapiens_hsa045400.76470481
59Salmonella infection_Homo sapiens_hsa051320.75084456
60Estrogen signaling pathway_Homo sapiens_hsa049150.74007899
61Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.72332278
62Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.70134494
63Hepatitis B_Homo sapiens_hsa051610.69839157
64Viral carcinogenesis_Homo sapiens_hsa052030.69181300
65Thyroid hormone synthesis_Homo sapiens_hsa049180.65479149
66Complement and coagulation cascades_Homo sapiens_hsa046100.64754968
67Vascular smooth muscle contraction_Homo sapiens_hsa042700.63243184
68N-Glycan biosynthesis_Homo sapiens_hsa005100.63103296
69HIF-1 signaling pathway_Homo sapiens_hsa040660.63000260
70GnRH signaling pathway_Homo sapiens_hsa049120.61440929
71Ovarian steroidogenesis_Homo sapiens_hsa049130.61062137
72Neurotrophin signaling pathway_Homo sapiens_hsa047220.60996511
73Endometrial cancer_Homo sapiens_hsa052130.60941924
74FoxO signaling pathway_Homo sapiens_hsa040680.58746339
75Longevity regulating pathway - mammal_Homo sapiens_hsa042110.58269354
76Phospholipase D signaling pathway_Homo sapiens_hsa040720.57299527
77Endocytosis_Homo sapiens_hsa041440.55458387
78Ras signaling pathway_Homo sapiens_hsa040140.55121700
79Vibrio cholerae infection_Homo sapiens_hsa051100.55043752
80Prolactin signaling pathway_Homo sapiens_hsa049170.53199033
81Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.51265800
82Renin secretion_Homo sapiens_hsa049240.51139701
83Acute myeloid leukemia_Homo sapiens_hsa052210.48203132
84Insulin resistance_Homo sapiens_hsa049310.47627567
85Dorso-ventral axis formation_Homo sapiens_hsa043200.47600679
86Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.47151309
87cGMP-PKG signaling pathway_Homo sapiens_hsa040220.46727076
88Apoptosis_Homo sapiens_hsa042100.45971960
89Thyroid hormone signaling pathway_Homo sapiens_hsa049190.45707766
90Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.45351741
91MAPK signaling pathway_Homo sapiens_hsa040100.45308311
92Glycosaminoglycan degradation_Homo sapiens_hsa005310.44752133
93Non-small cell lung cancer_Homo sapiens_hsa052230.43020083
94Leishmaniasis_Homo sapiens_hsa051400.42807415
95VEGF signaling pathway_Homo sapiens_hsa043700.42748334
96Sulfur metabolism_Homo sapiens_hsa009200.42670936
97Notch signaling pathway_Homo sapiens_hsa043300.42541422
98Cocaine addiction_Homo sapiens_hsa050300.42414424
99ErbB signaling pathway_Homo sapiens_hsa040120.42076042
100Pertussis_Homo sapiens_hsa051330.41225686
101Aldosterone synthesis and secretion_Homo sapiens_hsa049250.39707499
102cAMP signaling pathway_Homo sapiens_hsa040240.39590126
103AMPK signaling pathway_Homo sapiens_hsa041520.38894663
104Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.38191669
105Sphingolipid signaling pathway_Homo sapiens_hsa040710.37439357
106Lysine degradation_Homo sapiens_hsa003100.37060951
107Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.36139871
108Osteoclast differentiation_Homo sapiens_hsa043800.35270114
109Cell cycle_Homo sapiens_hsa041100.34709185
110Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.30201156
111Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.30199137
112Oxytocin signaling pathway_Homo sapiens_hsa049210.30185144
113Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.29821859
114Lysosome_Homo sapiens_hsa041420.29614526
115Insulin signaling pathway_Homo sapiens_hsa049100.29051007
116Choline metabolism in cancer_Homo sapiens_hsa052310.28487536

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