COL1A2

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 pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* protein heterotrimerization (GO:0070208)8.66138994
2* collagen fibril organization (GO:0030199)8.00998532
3bone trabecula formation (GO:0060346)7.82829358
4chondrocyte proliferation (GO:0035988)6.57164893
5sequestering of extracellular ligand from receptor (GO:0035581)5.99085744
6endodermal cell differentiation (GO:0035987)5.78833785
7* collagen metabolic process (GO:0032963)5.68717306
8* collagen catabolic process (GO:0030574)5.65261088
9* multicellular organismal macromolecule metabolic process (GO:0044259)5.33090576
10* multicellular organismal catabolic process (GO:0044243)5.18286903
11* multicellular organismal metabolic process (GO:0044236)5.02448609
12extracellular fibril organization (GO:0043206)4.91235393
13* skin morphogenesis (GO:0043589)4.86961898
14axon extension involved in axon guidance (GO:0048846)4.74693117
15neuron projection extension involved in neuron projection guidance (GO:1902284)4.74693117
16* extracellular matrix disassembly (GO:0022617)4.62526128
17cartilage development involved in endochondral bone morphogenesis (GO:0060351)4.46124935
18fibril organization (GO:0097435)4.39952197
19regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)4.37726687
20dermatan sulfate biosynthetic process (GO:0030208)4.32708912
21metanephric mesenchyme development (GO:0072075)4.18280564
22negative regulation of fatty acid transport (GO:2000192)4.14014513
23type B pancreatic cell proliferation (GO:0044342)4.09904739
24mesenchymal-epithelial cell signaling (GO:0060638)4.09209706
25keratan sulfate catabolic process (GO:0042340)4.05231207
26craniofacial suture morphogenesis (GO:0097094)4.03062895
27positive regulation of endothelial cell apoptotic process (GO:2000353)4.02034099
28kidney mesenchyme development (GO:0072074)4.01610355
29cellular response to vitamin (GO:0071295)3.98363890
30basement membrane organization (GO:0071711)3.98063276
31cell adhesion mediated by integrin (GO:0033627)3.92807463
32dermatan sulfate metabolic process (GO:0030205)3.91012297
33extracellular matrix assembly (GO:0085029)3.90726216
34outer ear morphogenesis (GO:0042473)3.88729482
35tooth mineralization (GO:0034505)3.83970967
36wound healing, spreading of epidermal cells (GO:0035313)3.78231637
37planar cell polarity pathway involved in neural tube closure (GO:0090179)3.75826149
38peptidyl-proline hydroxylation (GO:0019511)3.75605886
39cell migration involved in sprouting angiogenesis (GO:0002042)3.72811808
40negative regulation of chondrocyte differentiation (GO:0032331)3.69483250
41chondrocyte development (GO:0002063)3.69444174
42cellular response to vitamin D (GO:0071305)3.62078930
43embryonic cranial skeleton morphogenesis (GO:0048701)3.61776234
44positive regulation of epithelial to mesenchymal transition (GO:0010718)3.58275801
45regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.54252643
46glomerular basement membrane development (GO:0032836)3.51613929
47* extracellular matrix organization (GO:0030198)3.50742970
48* extracellular structure organization (GO:0043062)3.49420858
49venous blood vessel morphogenesis (GO:0048845)3.48142304
50regulation of axon extension involved in axon guidance (GO:0048841)3.47518536
51apoptotic cell clearance (GO:0043277)3.46165660
52G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071993.42715618
53* cellular response to amino acid stimulus (GO:0071230)3.42448764
54protein retention in ER lumen (GO:0006621)3.42348382
55extracellular negative regulation of signal transduction (GO:1900116)3.41623335
56extracellular regulation of signal transduction (GO:1900115)3.41623335
57vascular endothelial growth factor signaling pathway (GO:0038084)3.40936468
58trabecula formation (GO:0060343)3.40056243
59virion attachment to host cell (GO:0019062)3.39700731
60adhesion of symbiont to host cell (GO:0044650)3.39700731
61epithelial cell-cell adhesion (GO:0090136)3.36981560
62plasma membrane repair (GO:0001778)3.36882517
63retina vasculature morphogenesis in camera-type eye (GO:0061299)3.31144042
64negative regulation of smooth muscle cell migration (GO:0014912)3.28131437
65barbed-end actin filament capping (GO:0051016)3.27497762
66protein hydroxylation (GO:0018126)3.26513121
67cell migration involved in heart development (GO:0060973)3.25226064
68middle ear morphogenesis (GO:0042474)3.22567150
69negative regulation of axon extension involved in axon guidance (GO:0048843)3.19310426
70negative regulation of embryonic development (GO:0045992)3.18121156
71insulin-like growth factor receptor signaling pathway (GO:0048009)3.14615981
72peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)3.11262196
73positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr3.11204028
74regulation of axon guidance (GO:1902667)3.11054875
75blood vessel maturation (GO:0001955)3.10773320
76hippo signaling (GO:0035329)3.09934923
77negative regulation of cartilage development (GO:0061037)3.09145967
78establishment of tissue polarity (GO:0007164)3.09067820
79establishment of planar polarity (GO:0001736)3.09067820
80endochondral ossification (GO:0001958)3.07146122
81replacement ossification (GO:0036075)3.07146122
82regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.06968014
83cell proliferation involved in metanephros development (GO:0072203)3.06060940
84dichotomous subdivision of an epithelial terminal unit (GO:0060600)3.03694653
85glomerular filtration (GO:0003094)3.03129963
86face morphogenesis (GO:0060325)3.02325979
87positive regulation of extracellular matrix organization (GO:1903055)3.01885325
88protein localization to cell surface (GO:0034394)3.01264034
89cochlea morphogenesis (GO:0090103)3.01108934
90endothelial cell morphogenesis (GO:0001886)3.00030231
91substrate-dependent cell migration (GO:0006929)2.99856336
92endothelial cell chemotaxis (GO:0035767)2.98979170
93positive regulation of mesenchymal cell proliferation (GO:0002053)2.98158467
94regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition 2.98031871
95negative regulation of catenin import into nucleus (GO:0035414)2.97474770
96glial cell migration (GO:0008347)2.95370470
97stress fiber assembly (GO:0043149)2.95117590
98regulation of extracellular matrix disassembly (GO:0010715)2.94211803
99positive regulation of blood vessel endothelial cell migration (GO:0043536)2.93313774
100cranial suture morphogenesis (GO:0060363)2.93208363
101wound healing, spreading of cells (GO:0044319)2.92113558
102axon extension (GO:0048675)2.86698585
103positive regulation of axon extension (GO:0045773)2.85786698
104anatomical structure regression (GO:0060033)2.83936187
105regulation of establishment of planar polarity (GO:0090175)2.83758068
106regulation of gastrulation (GO:0010470)2.83462432
107Golgi transport vesicle coating (GO:0048200)2.82223123
108COPI coating of Golgi vesicle (GO:0048205)2.82223123
109adhesion of symbiont to host (GO:0044406)2.81552712
110artery morphogenesis (GO:0048844)2.78169521
111endocardial cushion development (GO:0003197)2.77777232
112eye morphogenesis (GO:0048592)2.77452892
113Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.77140179
114renal filtration (GO:0097205)2.77119878
115heparan sulfate proteoglycan biosynthetic process (GO:0015012)2.76980363
116ossification (GO:0001503)2.76668561
117substrate adhesion-dependent cell spreading (GO:0034446)2.75990181
118paraxial mesoderm development (GO:0048339)2.75044340
119positive regulation of osteoblast proliferation (GO:0033690)2.73666711
120negative regulation of adherens junction organization (GO:1903392)2.73423205
121negative regulation of focal adhesion assembly (GO:0051895)2.73423205
122negative regulation of cell junction assembly (GO:1901889)2.73423205
123chondroitin sulfate biosynthetic process (GO:0030206)2.73151082
124* protein trimerization (GO:0070206)2.73073553
125smooth muscle tissue development (GO:0048745)2.72829967
126maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.70416572
127negative regulation of axon guidance (GO:1902668)2.68086243
128negative regulation of BMP signaling pathway (GO:0030514)2.67991622
129regulation of branching involved in salivary gland morphogenesis (GO:0060693)2.59134385
130negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)2.56853684
131vascular endothelial growth factor receptor signaling pathway (GO:0048010)2.56686639
132sprouting angiogenesis (GO:0002040)2.56460473
133cellular response to vascular endothelial growth factor stimulus (GO:0035924)2.55422425

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human6.90011960
2TP63_17297297_ChIP-ChIP_HaCaT_Human5.59292964
3RARG_19884340_ChIP-ChIP_MEFs_Mouse4.70668582
4PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse4.61624644
5CLOCK_20551151_ChIP-Seq_293T_Human3.26433181
6* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse3.16574460
7TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human3.15464945
8WT1_19549856_ChIP-ChIP_CCG9911_Human3.09192976
9* CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse2.83835584
10ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.80391710
11NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.78119450
12CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse2.73633914
13CJUN_26792858_Chip-Seq_BT549_Human2.55821140
14* WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse2.32871374
15* BRD4_25478319_ChIP-Seq_HGPS_Human2.31994043
16TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.27712631
17EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.26548553
18EGR1_19374776_ChIP-ChIP_THP-1_Human2.14748302
19EP300_21415370_ChIP-Seq_HL-1_Mouse2.04881168
20HIF1A_21447827_ChIP-Seq_MCF-7_Human1.96515450
21* NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.87981891
22* NRF2_20460467_ChIP-Seq_MEFs_Mouse1.87981891
23EED_16625203_ChIP-ChIP_MESCs_Mouse1.73869357
24ELK3_25401928_ChIP-Seq_HUVEC_Human1.71837579
25P300_27058665_Chip-Seq_ZR-75-30cells_Human1.66786479
26SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.66097152
27RBPJ_22232070_ChIP-Seq_NCS_Mouse1.61987469
28TP53_20018659_ChIP-ChIP_R1E_Mouse1.61598360
29* SMC1_22415368_ChIP-Seq_MEFs_Mouse1.61329911
30PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.56602017
31TP53_18474530_ChIP-ChIP_U2OS_Human1.56487174
32RNF2_18974828_ChIP-Seq_MESCs_Mouse1.55099337
33EZH2_18974828_ChIP-Seq_MESCs_Mouse1.55099337
34JARID2_20064375_ChIP-Seq_MESCs_Mouse1.54070782
35SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.52814280
36PPAR_26484153_Chip-Seq_NCI-H1993_Human1.52305524
37THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.51339212
38MTF2_20144788_ChIP-Seq_MESCs_Mouse1.50994082
39HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.50719403
40SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.49176000
41SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.49176000
42CDX2_19796622_ChIP-Seq_MESCs_Mouse1.46011326
43GBX2_23144817_ChIP-Seq_PC3_Human1.45030874
44UBF1/2_26484160_Chip-Seq_HMECs_Human1.45016552
45JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.40446519
46ESR1_21235772_ChIP-Seq_MCF-7_Human1.39294335
47TP53_22127205_ChIP-Seq_IMR90_Human1.39237460
48JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.38692469
49ZFP281_18757296_ChIP-ChIP_E14_Mouse1.37935041
50SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.37819349
51TP53_16413492_ChIP-PET_HCT116_Human1.37555153
52SOX9_24532713_ChIP-Seq_HFSC_Mouse1.35826277
53TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.32295847
54STAT6_21828071_ChIP-Seq_BEAS2B_Human1.31121501
55ATF3_27146783_Chip-Seq_COLON_Human1.30803759
56UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.30338327
57SMAD_19615063_ChIP-ChIP_OVARY_Human1.30300017
58SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.30096256
59SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.30068171
60SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.29822253
61SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.28471978
62ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.28466657
63DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.26693649
64* CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.24557682
65PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.24010400
66SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.22983715
67RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.22830840
68TP53_23651856_ChIP-Seq_MEFs_Mouse1.22716206
69ESR2_21235772_ChIP-Seq_MCF-7_Human1.22545555
70TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.22488758
71RING1B_27294783_Chip-Seq_ESCs_Mouse1.20476181
72SMC3_22415368_ChIP-Seq_MEFs_Mouse1.20252255
73KDM2B_26808549_Chip-Seq_SUP-B15_Human1.19446329
74NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.19341263
75SOX2_20726797_ChIP-Seq_SW620_Human1.18713241
76* ISL1_27105846_Chip-Seq_CPCs_Mouse1.18135338
77ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.17878717
78TBX20_22080862_ChIP-Seq_HEART_Mouse1.17477633
79TBX20_22328084_ChIP-Seq_HEART_Mouse1.17477633
80* SA1_22415368_ChIP-Seq_MEFs_Mouse1.16962595
81MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.16518534
82PIAS1_25552417_ChIP-Seq_VCAP_Human1.14979063
83ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.12276351
84EZH2_27294783_Chip-Seq_ESCs_Mouse1.11550068
85KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.10285302
86ZFP281_27345836_Chip-Seq_ESCs_Mouse1.09759128
87NFIB_24661679_ChIP-Seq_LUNG_Mouse1.09008787
88* SALL4_18804426_ChIP-ChIP_XEN_Mouse1.08335911
89CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.08119721
90FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.07677576
91SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.07369560
92SUZ12_27294783_Chip-Seq_ESCs_Mouse1.06857992
93GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.06535792
94YAP1_20516196_ChIP-Seq_MESCs_Mouse1.05939885
95ZNF217_24962896_ChIP-Seq_MCF-7_Human1.05889849
96ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.05215133
97ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.04507339
98BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.04393525
99KDM2B_26808549_Chip-Seq_K562_Human1.04132240
100SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.04062909
101RACK7_27058665_Chip-Seq_MCF-7_Human1.04014639
102NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.03243350
103DROSHA_22980978_ChIP-Seq_HELA_Human1.02673987
104JARID2_20075857_ChIP-Seq_MESCs_Mouse1.02510863
105FOXO3_23340844_ChIP-Seq_DLD1_Human1.02141069
106TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.01952935
107TBX3_20139965_ChIP-Seq_MESCs_Mouse1.01426901
108PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.00245932
109TBX3_20139965_ChIP-Seq_ESCs_Mouse1.00054487
110CTNNB1_20460455_ChIP-Seq_HCT116_Human0.99508174
111FOXP3_17237761_ChIP-ChIP_TREG_Mouse0.97327992
112OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.96735185
113RING1B_27294783_Chip-Seq_NPCs_Mouse0.95921099
114POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.95576626
115KDM2B_26808549_Chip-Seq_JURKAT_Human0.95349953
116* RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.94775628
117P63_26484246_Chip-Seq_KERATINOCYTES_Human0.94626185
118CBX2_27304074_Chip-Seq_ESCs_Mouse0.94147117
119GATA2_21666600_ChIP-Seq_HMVEC_Human0.93075498
120EZH2_27304074_Chip-Seq_ESCs_Mouse0.92553438
121LXR_22292898_ChIP-Seq_THP-1_Human0.92260917
122KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.92134891
123WT1_25993318_ChIP-Seq_PODOCYTE_Human0.91110303
124* NFI_21473784_ChIP-Seq_ESCs_Mouse0.89744509
125KDM2B_26808549_Chip-Seq_DND41_Human0.89203451
126RNF2_27304074_Chip-Seq_ESCs_Mouse0.86533050
127TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.85239964

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen9.49497557
2MP0005275_abnormal_skin_tensile6.03889048
3* MP0005503_abnormal_tendon_morphology5.28051400
4MP0003279_aneurysm3.77679799
5MP0003705_abnormal_hypodermis_morpholog3.73286562
6MP0001958_emphysema3.28143955
7MP0006054_spinal_hemorrhage3.23723652
8MP0004272_abnormal_basement_membrane2.96198332
9MP0005257_abnormal_intraocular_pressure2.88554931
10MP0005623_abnormal_meninges_morphology2.44955999
11MP0009384_cardiac_valve_regurgitation2.32455949
12* MP0005508_abnormal_skeleton_morphology2.30629758
13* MP0002060_abnormal_skin_morphology2.12507952
14MP0009250_abnormal_appendicular_skeleto1.95260721
15MP0010030_abnormal_orbit_morphology1.85721481
16MP0003566_abnormal_cell_adhesion1.80266696
17* MP0001542_abnormal_bone_strength1.77423657
18* MP0002108_abnormal_muscle_morphology1.73330937
19* MP0002896_abnormal_bone_mineralization1.72054135
20MP0003385_abnormal_body_wall1.69785775
21MP0002295_abnormal_pulmonary_circulatio1.66092855
22MP0005023_abnormal_wound_healing1.65950562
23MP0000013_abnormal_adipose_tissue1.61055787
24MP0003283_abnormal_digestive_organ1.57012077
25MP0004858_abnormal_nervous_system1.54322837
26* MP0001243_abnormal_dermal_layer1.54251913
27MP0004134_abnormal_chest_morphology1.51020522
28MP0003091_abnormal_cell_migration1.48541453
29MP0000733_abnormal_muscle_development1.38424939
30MP0001299_abnormal_eye_distance/1.35906926
31MP0010352_gastrointestinal_tract_polyps1.35786017
32MP0000751_myopathy1.31535698
33MP0002282_abnormal_trachea_morphology1.30145975
34* MP0005390_skeleton_phenotype1.30073473
35MP0009053_abnormal_anal_canal1.27774732
36* MP0002115_abnormal_skeleton_extremities1.26218860
37MP0000767_abnormal_smooth_muscle1.26098748
38MP0000428_abnormal_craniofacial_morphol1.24992907
39MP0002998_abnormal_bone_remodeling1.22570149
40MP0000163_abnormal_cartilage_morphology1.22540338
41MP0002933_joint_inflammation1.16982189
42MP0003115_abnormal_respiratory_system1.13684900
43MP0004859_abnormal_synaptic_plasticity1.10988514
44* MP0002932_abnormal_joint_morphology1.08512672
45MP0002113_abnormal_skeleton_development1.07756779
46MP0003045_fibrosis1.06332335
47MP0000534_abnormal_ureter_morphology1.03988621
48MP0003942_abnormal_urinary_system1.03756154
49MP0000003_abnormal_adipose_tissue1.02957120
50MP0003755_abnormal_palate_morphology1.02550449
51MP0002168_other_aberrant_phenotype1.01118349
52MP0002877_abnormal_melanocyte_morpholog1.01001752
53MP0005076_abnormal_cell_differentiation1.00829757
54MP0000049_abnormal_middle_ear0.97247048
55MP0003950_abnormal_plasma_membrane0.93850415
56MP0002089_abnormal_postnatal_growth/wei0.90983249
57MP0001348_abnormal_lacrimal_gland0.90655759
58MP0010386_abnormal_urinary_bladder0.90371628
59MP0002109_abnormal_limb_morphology0.89860121
60MP0004185_abnormal_adipocyte_glucose0.89681138
61MP0002249_abnormal_larynx_morphology0.89486207
62MP0000432_abnormal_head_morphology0.88250983
63MP0002116_abnormal_craniofacial_bone0.86128656
64* MP0003795_abnormal_bone_structure0.84434888
65MP0003935_abnormal_craniofacial_develop0.83485103
66MP0000462_abnormal_digestive_system0.83318224
67MP0002233_abnormal_nose_morphology0.81955361
68MP0001533_abnormal_skeleton_physiology0.81082866
69MP0005171_absent_coat_pigmentation0.80846815
70MP0003941_abnormal_skin_development0.79451611
71MP0000762_abnormal_tongue_morphology0.76624927
72MP0003122_maternal_imprinting0.76163627
73MP0003937_abnormal_limbs/digits/tail_de0.75649707
74MP0010368_abnormal_lymphatic_system0.75595481
75MP0003300_gastrointestinal_ulcer0.73033222
76* MP0002128_abnormal_blood_circulation0.72256699
77MP0001915_intracranial_hemorrhage0.70263300
78MP0001614_abnormal_blood_vessel0.69970859
79MP0005375_adipose_tissue_phenotype0.68923021
80MP0005595_abnormal_vascular_smooth0.68389289
81MP0000750_abnormal_muscle_regeneration0.67921549
82MP0000778_abnormal_nervous_system0.67278234
83* MP0002111_abnormal_tail_morphology0.65406791
84* MP0002114_abnormal_axial_skeleton0.64949317
85MP0000538_abnormal_urinary_bladder0.64121028
86MP0009780_abnormal_chondrocyte_physiolo0.62810652
87MP0002177_abnormal_outer_ear0.62732662
88MP0001175_abnormal_lung_morphology0.62475239
89MP0003448_altered_tumor_morphology0.61985294
90MP0009278_abnormal_bone_marrow0.61925232
91MP0000537_abnormal_urethra_morphology0.61410713
92MP0000759_abnormal_skeletal_muscle0.61257878
93MP0001849_ear_inflammation0.60269896
94MP0005388_respiratory_system_phenotype0.58754510
95MP0002133_abnormal_respiratory_system0.58754510
96MP0000749_muscle_degeneration0.58247702
97MP0002925_abnormal_cardiovascular_devel0.58211429
98* MP0010771_integument_phenotype0.57879076
99MP0005197_abnormal_uvea_morphology0.57440597
100MP0000747_muscle_weakness0.56241836
101MP0002697_abnormal_eye_size0.54548451
102MP0001177_atelectasis0.54141502
103MP0004084_abnormal_cardiac_muscle0.54095849
104MP0000516_abnormal_urinary_system0.54010537
105MP0005367_renal/urinary_system_phenotyp0.54010537
106MP0001879_abnormal_lymphatic_vessel0.54004156
107MP0005193_abnormal_anterior_eye0.53608732
108MP0009379_abnormal_foot_pigmentation0.52934446
109MP0005164_abnormal_response_to0.52792905
110MP0004087_abnormal_muscle_fiber0.49352560
111* MP0005369_muscle_phenotype0.48372904
112MP0003634_abnormal_glial_cell0.48147978
113MP0005409_darkened_coat_color0.46171763
114MP0003329_amyloid_beta_deposits0.43872339

Predicted human phenotypes

RankGene SetZ-score
1Premature rupture of membranes (HP:0001788)9.36652721
2* Protrusio acetabuli (HP:0003179)9.16722154
3Ankle contracture (HP:0006466)6.09297488
4Aortic dissection (HP:0002647)5.75925580
5Peritonitis (HP:0002586)5.49893531
6Shallow orbits (HP:0000586)4.89419370
7* Soft skin (HP:0000977)4.82075810
8Follicular hyperkeratosis (HP:0007502)4.78802952
9Bladder diverticulum (HP:0000015)4.76240507
10Fragile skin (HP:0001030)4.75872862
11* Atrophic scars (HP:0001075)4.72848124
12Broad metatarsal (HP:0001783)4.65110289
13Type 1 muscle fiber predominance (HP:0003803)4.27610501
14Cerebral aneurysm (HP:0004944)4.17420611
15Dilatation of the ascending aorta (HP:0005111)4.14851706
16* Abnormality of dentin (HP:0010299)3.89250433
17Cervical subluxation (HP:0003308)3.78004798
18Slender build (HP:0001533)3.68897052
19Vertebral compression fractures (HP:0002953)3.60829990
20* Mitral valve prolapse (HP:0001634)3.58987238
21Aortic aneurysm (HP:0004942)3.58906307
22* Genu recurvatum (HP:0002816)3.58020120
23* Biconcave vertebral bodies (HP:0004586)3.54481382
24Spinal rigidity (HP:0003306)3.48383961
25* Blue sclerae (HP:0000592)3.45982891
26* Wormian bones (HP:0002645)3.41329958
27Bowel diverticulosis (HP:0005222)3.30942674
28* Neonatal short-limb short stature (HP:0008921)3.20715131
29Wrist flexion contracture (HP:0001239)3.20267329
30Increased connective tissue (HP:0009025)3.20076014
31Infantile muscular hypotonia (HP:0008947)3.18345242
32Mildly elevated creatine phosphokinase (HP:0008180)2.95724363
33Increased variability in muscle fiber diameter (HP:0003557)2.90672830
34* Hyperextensible skin (HP:0000974)2.86764048
35Deviation of the hallux (HP:0010051)2.76898163
36* Abnormal delivery (HP:0001787)2.75886132
37Hallux valgus (HP:0001822)2.71028976
38Osteolytic defects of the hand bones (HP:0009699)2.68488996
39Osteolytic defects of the phalanges of the hand (HP:0009771)2.68488996
40Elbow flexion contracture (HP:0002987)2.63278218
41Ectopia lentis (HP:0001083)2.61676974
42Abnormality of the peritoneum (HP:0002585)2.60594437
43* Joint laxity (HP:0001388)2.51990517
44Abnormality of skeletal muscle fiber size (HP:0012084)2.51564904
45Spondylolisthesis (HP:0003302)2.37717712
46Overgrowth (HP:0001548)2.37024564
47* Abnormality of the acetabulum (HP:0003170)2.34261834
48Broad ribs (HP:0000885)2.33969747
49Vascular tortuosity (HP:0004948)2.33095952
50Venous insufficiency (HP:0005293)2.31061301
51* Mild short stature (HP:0003502)2.29920132
52Venous abnormality (HP:0002624)2.28930540
53* Wide anterior fontanel (HP:0000260)2.28727311
54Thin bony cortex (HP:0002753)2.27124736
55Aortic valve stenosis (HP:0001650)2.25288115
56Hypoplasia of the iris (HP:0007676)2.24414768
57Ulnar bowing (HP:0003031)2.24164964
58Bell-shaped thorax (HP:0001591)2.23680475
59Camptodactyly of toe (HP:0001836)2.21307450
60* Aortic regurgitation (HP:0001659)2.20647055
61* Osteoarthritis (HP:0002758)2.20198023
62Aneurysm (HP:0002617)2.19953654
63Buphthalmos (HP:0000557)2.18871094
64Mesomelia (HP:0003027)2.17495383
65Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.17123028
66Short 4th metacarpal (HP:0010044)2.17123028
67Coronal craniosynostosis (HP:0004440)2.12135718
68Striae distensae (HP:0001065)2.09977723
69Mitral stenosis (HP:0001718)2.07452272
70Alopecia of scalp (HP:0002293)2.06207861
71Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)2.04977265
72Spinal cord lesions (HP:0100561)1.99225508
73Syringomyelia (HP:0003396)1.99225508
74Hypoventilation (HP:0002791)1.97693073
75Arterial tortuosity (HP:0005116)1.96539928
76Round ear (HP:0100830)1.95559889
77Renal duplication (HP:0000075)1.94550198
78Generalized amyotrophy (HP:0003700)1.91478840
79Delayed closure of the anterior fontanelle (HP:0001476)1.90807598
80Narrow nasal bridge (HP:0000446)1.89858321
81* Mitral regurgitation (HP:0001653)1.89798411
82Knee flexion contracture (HP:0006380)1.89769501
83Joint stiffness (HP:0001387)1.88603228
84Vertebral arch anomaly (HP:0008438)1.88424454
85Flat cornea (HP:0007720)1.87875769
86Renovascular hypertension (HP:0100817)1.87850490
87Coxa vara (HP:0002812)1.87669261
88Disproportionate tall stature (HP:0001519)1.87636793
89Protruding ear (HP:0000411)1.84327956
90Asymmetry of the thorax (HP:0001555)1.83500629
91Limb-girdle muscle weakness (HP:0003325)1.83331204
92* Tibial bowing (HP:0002982)1.82667103
93* Inguinal hernia (HP:0000023)1.82502329
94* Femoral bowing (HP:0002980)1.82493559
95Delayed cranial suture closure (HP:0000270)1.82472537
96Turricephaly (HP:0000262)1.81127203
97Keratoconus (HP:0000563)1.80964984
98Increased corneal curvature (HP:0100692)1.80964984
99Hip contracture (HP:0003273)1.79329241
100Cupped ribs (HP:0000887)1.79214999
101* Broad long bones (HP:0005622)1.77378400
102Absent frontal sinuses (HP:0002688)1.77181693
103* Osteopenia (HP:0000938)1.75800361
104Thin ribs (HP:0000883)1.75413695
105Abnormality of the 4th metacarpal (HP:0010012)1.75066734
106* Platyspondyly (HP:0000926)1.74540693
107* Thin skin (HP:0000963)1.73639190
108Congenital glaucoma (HP:0001087)1.73596659
109Redundant skin (HP:0001582)1.72811509
110Abnormality of the ischium (HP:0003174)1.72285815
111Thoracolumbar scoliosis (HP:0002944)1.70706565
112Radial bowing (HP:0002986)1.69969010
113Short nail (HP:0001799)1.69744600
114* Decreased skull ossification (HP:0004331)1.69679871
115Joint contractures involving the joints of the feet (HP:0100492)1.69208991
116Flexion contracture of toe (HP:0005830)1.69208991
117Premature skin wrinkling (HP:0100678)1.69186186
118Limited hip movement (HP:0008800)1.69014341
119* Breech presentation (HP:0001623)1.68353653
120Hyperacusis (HP:0010780)1.67445613
121Bowing of the arm (HP:0006488)1.67314602
122Bowed forearm bones (HP:0003956)1.67314602
123* Abnormality of skull ossification (HP:0002703)1.64361444
124Pulmonary artery stenosis (HP:0004415)1.61760445

Predicted kinase interactions (KEA)

RankGene SetZ-score
1DDR26.11588814
2TRIB34.55256923
3PDGFRA4.43481568
4TTN3.92196057
5LATS13.11178402
6PKN23.08804179
7LATS22.89739759
8SIK12.75690477
9TNIK2.41454759
10ERN12.23770111
11EPHB22.21727596
12RIPK12.18397258
13EPHA32.10212240
14PAK21.98553620
15MARK11.90603812
16BMX1.77517470
17FER1.77317510
18DMPK1.64320308
19PDGFRB1.52800575
20PAK41.52324034
21PTK61.52307768
22PTK21.50221773
23TGFBR21.49765784
24TRPM71.49509613
25EEF2K1.47830383
26AKT31.43176875
27STK31.38849690
28FGFR11.33723951
29NEK91.25886213
30PAK31.25605314
31STK381.23723069
32FGFR21.23368715
33MET1.23188948
34MYLK1.15759817
35LRRK21.13964767
36PTK2B1.11258164
37MAP3K101.09311988
38FRK1.08426628
39RPS6KA41.06849314
40ROCK11.05206220
41MTOR1.02653429
42ILK1.00002129
43MAP3K60.93837730
44NTRK10.88047840
45PRKD20.87135601
46FLT30.86990673
47KIT0.86011127
48PIK3CA0.85702031
49DAPK30.81364201
50EPHB10.80379932
51NEK20.79856924
52CAMK1D0.79586903
53BCR0.78622323
54PNCK0.74536318
55PRKD30.72553574
56RET0.72105915
57MAPK70.71625239
58PLK20.71489617
59MOS0.70863355
60LIMK10.70066452
61PRKCH0.69926696
62ROCK20.69806195
63SCYL20.69795362
64JAK10.69188630
65TESK10.69067601
66CASK0.67683759
67SIK20.65443818
68STK38L0.64576195
69INSR0.64380433
70ABL20.60924853
71ARAF0.59118572
72PIK3CG0.58236266
73CDC42BPA0.57260823
74MAP2K10.57215302
75FGFR40.56807844
76PIM20.56119417
77PRKD10.55192533
78FGFR30.54676749
79ADRBK10.54372883
80CDK60.52913557
81NME20.52060046
82KSR10.51299525
83CLK10.51261754
84RPS6KC10.50039622
85RPS6KL10.50039622
86ICK0.49857362
87PAK10.47917759
88GRK70.47029598
89CDK150.46543463
90NTRK20.46427552
91CDK11A0.46357610
92CAMK1G0.46250018
93BRD40.46095013
94MAP3K130.45403745
95SRC0.45161716
96CAMK2G0.44874650
97CDK180.44063188
98DYRK1B0.43782094
99ERBB30.43306794
100WNK10.43117499
101CAMK2B0.40530755
102CAMK2D0.40186676
103KSR20.39404931
104TYRO30.38847100
105CAMKK10.37563127
106NUAK10.37257374
107TGFBR10.33948135
108ERBB40.33518862
109RPS6KA60.32280882
110MAPK10.31249694
111MAPKAPK50.31186176
112PAK60.28108531
113ERBB20.26865910
114ABL10.26021556
115MAPKAPK20.24048587
116LMTK20.23386711
117MST1R0.22614216
118IGF1R0.22081870
119MAP3K80.21722128
120CDK80.21170305
121GSK3A0.20992652
122PRKG20.20722241
123PRKCE0.19761170
124RPS6KA20.19241597
125JAK30.18093313
126CDK120.17976045
127MAP3K70.17570267
128CDK140.17277627
129TAOK10.17215294

Predicted pathways (KEGG)

RankGene SetZ-score
1* ECM-receptor interaction_Homo sapiens_hsa045125.28724597
2* Protein digestion and absorption_Homo sapiens_hsa049743.64775726
3* Focal adhesion_Homo sapiens_hsa045103.47798389
4Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.63374389
5Proteoglycans in cancer_Homo sapiens_hsa052052.48333180
6* Amoebiasis_Homo sapiens_hsa051462.37501613
7Bladder cancer_Homo sapiens_hsa052192.33288378
8* AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049332.29417602
9Malaria_Homo sapiens_hsa051442.22297248
10Basal cell carcinoma_Homo sapiens_hsa052171.96314257
11TGF-beta signaling pathway_Homo sapiens_hsa043501.95502601
12Adherens junction_Homo sapiens_hsa045201.95007801
13Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.93415804
14Small cell lung cancer_Homo sapiens_hsa052221.92278500
15* PI3K-Akt signaling pathway_Homo sapiens_hsa041511.85139256
16Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.84960138
17MicroRNAs in cancer_Homo sapiens_hsa052061.84159389
18Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.83317757
19Dilated cardiomyopathy_Homo sapiens_hsa054141.82700639
20Hippo signaling pathway_Homo sapiens_hsa043901.75839790
21Hedgehog signaling pathway_Homo sapiens_hsa043401.73156767
22Chronic myeloid leukemia_Homo sapiens_hsa052201.70537317
23Melanoma_Homo sapiens_hsa052181.69899108
24Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.65230925
25Glioma_Homo sapiens_hsa052141.47729596
26Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.45033292
27Prostate cancer_Homo sapiens_hsa052151.34592220
28Regulation of actin cytoskeleton_Homo sapiens_hsa048101.32493722
29Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.26139950
30Pathways in cancer_Homo sapiens_hsa052001.19989697
31p53 signaling pathway_Homo sapiens_hsa041151.15157090
32Wnt signaling pathway_Homo sapiens_hsa043101.15087312
33Leukocyte transendothelial migration_Homo sapiens_hsa046701.14132678
34Pancreatic cancer_Homo sapiens_hsa052121.13028563
35Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.11240318
36Central carbon metabolism in cancer_Homo sapiens_hsa052301.09090494
37* Platelet activation_Homo sapiens_hsa046111.06084540
38Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.05550661
39Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.04470194
40Axon guidance_Homo sapiens_hsa043601.04215952
41Viral myocarditis_Homo sapiens_hsa054161.00532074
42HTLV-I infection_Homo sapiens_hsa051660.99565412
43Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.99559337
44Cocaine addiction_Homo sapiens_hsa050300.99470239
45Dorso-ventral axis formation_Homo sapiens_hsa043200.97093488
46Rap1 signaling pathway_Homo sapiens_hsa040150.96292552
47Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.94268410
48Tight junction_Homo sapiens_hsa045300.93985940
49Toxoplasmosis_Homo sapiens_hsa051450.93110800
50TNF signaling pathway_Homo sapiens_hsa046680.88958516
51Melanogenesis_Homo sapiens_hsa049160.88375984
52Estrogen signaling pathway_Homo sapiens_hsa049150.84696340
53Shigellosis_Homo sapiens_hsa051310.80230774
54Phagosome_Homo sapiens_hsa041450.77518117
55Colorectal cancer_Homo sapiens_hsa052100.77474573
56Renin-angiotensin system_Homo sapiens_hsa046140.77451610
57mTOR signaling pathway_Homo sapiens_hsa041500.74337862
58Other glycan degradation_Homo sapiens_hsa005110.74239182
59Renal cell carcinoma_Homo sapiens_hsa052110.73389901
60Gap junction_Homo sapiens_hsa045400.72579612
61Notch signaling pathway_Homo sapiens_hsa043300.71464264
62Cholinergic synapse_Homo sapiens_hsa047250.70882859
63Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.70523345
64Hepatitis B_Homo sapiens_hsa051610.68326072
65Long-term potentiation_Homo sapiens_hsa047200.68315554
66Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.67956111
67Longevity regulating pathway - mammal_Homo sapiens_hsa042110.66949479
68Endometrial cancer_Homo sapiens_hsa052130.66411778
69cAMP signaling pathway_Homo sapiens_hsa040240.64993599
70Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.64684381
71Vascular smooth muscle contraction_Homo sapiens_hsa042700.63973377
72GnRH signaling pathway_Homo sapiens_hsa049120.63492896
73Insulin resistance_Homo sapiens_hsa049310.61068591
74Viral carcinogenesis_Homo sapiens_hsa052030.61048811
75HIF-1 signaling pathway_Homo sapiens_hsa040660.60594092
76Oxytocin signaling pathway_Homo sapiens_hsa049210.60115828
77Ovarian steroidogenesis_Homo sapiens_hsa049130.59713612
78Thyroid hormone synthesis_Homo sapiens_hsa049180.59661467
79Glycosaminoglycan degradation_Homo sapiens_hsa005310.59451928
80N-Glycan biosynthesis_Homo sapiens_hsa005100.58976134
81Circadian entrainment_Homo sapiens_hsa047130.57633773
82Phospholipase D signaling pathway_Homo sapiens_hsa040720.56563218
83Vibrio cholerae infection_Homo sapiens_hsa051100.56070948
84Endocytosis_Homo sapiens_hsa041440.55241423
85FoxO signaling pathway_Homo sapiens_hsa040680.55192998
86Ras signaling pathway_Homo sapiens_hsa040140.55166017
87cGMP-PKG signaling pathway_Homo sapiens_hsa040220.54319466
88Thyroid hormone signaling pathway_Homo sapiens_hsa049190.54262950
89AMPK signaling pathway_Homo sapiens_hsa041520.54064966
90Neurotrophin signaling pathway_Homo sapiens_hsa047220.53645224
91Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.51848106
92Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.51508790
93Glutamatergic synapse_Homo sapiens_hsa047240.51216506
94Galactose metabolism_Homo sapiens_hsa000520.51152737
95Long-term depression_Homo sapiens_hsa047300.50785966
96Salmonella infection_Homo sapiens_hsa051320.50745474
97Apoptosis_Homo sapiens_hsa042100.50557331
98Non-small cell lung cancer_Homo sapiens_hsa052230.50273403
99Renin secretion_Homo sapiens_hsa049240.49746085
100Lysine degradation_Homo sapiens_hsa003100.49081695
101Amphetamine addiction_Homo sapiens_hsa050310.48489834
102Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.47672269
103Lysosome_Homo sapiens_hsa041420.45731159
104Adipocytokine signaling pathway_Homo sapiens_hsa049200.45380565
105Thyroid cancer_Homo sapiens_hsa052160.45025002
106Osteoclast differentiation_Homo sapiens_hsa043800.44622878
107Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.44542152
108VEGF signaling pathway_Homo sapiens_hsa043700.44403095
109Dopaminergic synapse_Homo sapiens_hsa047280.43987813
110Complement and coagulation cascades_Homo sapiens_hsa046100.43904380
111Insulin signaling pathway_Homo sapiens_hsa049100.41634760
112Choline metabolism in cancer_Homo sapiens_hsa052310.41195873
113MAPK signaling pathway_Homo sapiens_hsa040100.37375854
114Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.37353100
115ErbB signaling pathway_Homo sapiens_hsa040120.34407799
116Acute myeloid leukemia_Homo sapiens_hsa052210.33879052
117Cell cycle_Homo sapiens_hsa041100.32043602
118Prion diseases_Homo sapiens_hsa050200.31630351
119Aldosterone synthesis and secretion_Homo sapiens_hsa049250.29995713
120Prolactin signaling pathway_Homo sapiens_hsa049170.29620820
121Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.28989564

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