COL3A1

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-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome types IV, and with aortic and arterial aneurysms. Two 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
1protein heterotrimerization (GO:0070208)9.60948052
2* collagen fibril organization (GO:0030199)7.34126059
3bone trabecula formation (GO:0060346)6.88942935
4sequestering of extracellular ligand from receptor (GO:0035581)5.85469704
5* collagen metabolic process (GO:0032963)5.73998590
6* collagen catabolic process (GO:0030574)5.67192067
7skin morphogenesis (GO:0043589)5.46216223
8* multicellular organismal macromolecule metabolic process (GO:0044259)5.43008315
9endodermal cell differentiation (GO:0035987)5.34959530
10* multicellular organismal catabolic process (GO:0044243)5.22970950
11* multicellular organismal metabolic process (GO:0044236)5.14344267
12chondrocyte proliferation (GO:0035988)4.79015815
13* extracellular matrix disassembly (GO:0022617)4.70254581
14neuron projection extension involved in neuron projection guidance (GO:1902284)4.58220145
15axon extension involved in axon guidance (GO:0048846)4.58220145
16* extracellular fibril organization (GO:0043206)4.46553951
17regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)4.32339819
18basement membrane organization (GO:0071711)4.18389043
19planar cell polarity pathway involved in neural tube closure (GO:0090179)3.98901695
20extracellular matrix assembly (GO:0085029)3.88826128
21* fibril organization (GO:0097435)3.86728799
22outer ear morphogenesis (GO:0042473)3.78833096
23regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.77195233
24negative regulation of chondrocyte differentiation (GO:0032331)3.75081884
25dermatan sulfate biosynthetic process (GO:0030208)3.73324134
26craniofacial suture morphogenesis (GO:0097094)3.72307035
27metanephric mesenchyme development (GO:0072075)3.63762320
28mesenchymal-epithelial cell signaling (GO:0060638)3.59783474
29cartilage development involved in endochondral bone morphogenesis (GO:0060351)3.59655709
30cell proliferation involved in metanephros development (GO:0072203)3.59346984
31negative regulation of fatty acid transport (GO:2000192)3.55984583
32insulin-like growth factor receptor signaling pathway (GO:0048009)3.42444012
33* extracellular matrix organization (GO:0030198)3.39632232
34kidney mesenchyme development (GO:0072074)3.38502434
35* extracellular structure organization (GO:0043062)3.38352427
36G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071993.37735072
37extracellular regulation of signal transduction (GO:1900115)3.36560250
38extracellular negative regulation of signal transduction (GO:1900116)3.36560250
39anatomical structure regression (GO:0060033)3.35147908
40dermatan sulfate metabolic process (GO:0030205)3.35089931
41glomerular basement membrane development (GO:0032836)3.32507843
42glial cell migration (GO:0008347)3.32424121
43keratan sulfate catabolic process (GO:0042340)3.30326025
44negative regulation of cartilage development (GO:0061037)3.27657921
45apoptotic cell clearance (GO:0043277)3.27402513
46trabecula formation (GO:0060343)3.27381489
47wound healing, spreading of epidermal cells (GO:0035313)3.27311903
48retina vasculature morphogenesis in camera-type eye (GO:0061299)3.26219848
49glomerular filtration (GO:0003094)3.25881252
50embryonic cranial skeleton morphogenesis (GO:0048701)3.21874776
51positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr3.18154838
52cell migration involved in heart development (GO:0060973)3.17698414
53hemidesmosome assembly (GO:0031581)3.16863752
54protein trimerization (GO:0070206)3.16673203
55negative regulation of catenin import into nucleus (GO:0035414)3.16253525
56vascular endothelial growth factor signaling pathway (GO:0038084)3.14909309
57cell adhesion mediated by integrin (GO:0033627)3.13801590
58blood vessel maturation (GO:0001955)3.13572438
59regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition 3.13475327
60smooth muscle tissue development (GO:0048745)3.12866877
61chondrocyte development (GO:0002063)3.12520229
62cellular response to vascular endothelial growth factor stimulus (GO:0035924)3.11002864
63hippo signaling (GO:0035329)3.08953476
64positive regulation of epithelial to mesenchymal transition (GO:0010718)3.08270026
65plasma membrane repair (GO:0001778)3.05443603
66positive regulation of endothelial cell apoptotic process (GO:2000353)3.04633374
67positive regulation of mesenchymal cell proliferation (GO:0002053)3.04369363
68peripheral nervous system axon ensheathment (GO:0032292)3.04162030
69myelination in peripheral nervous system (GO:0022011)3.04162030
70renal filtration (GO:0097205)2.99762194
71positive regulation of glycogen biosynthetic process (GO:0045725)2.98103316
72* cellular response to amino acid stimulus (GO:0071230)2.97269085
73negative regulation of embryonic development (GO:0045992)2.96972763
74epithelial cell-cell adhesion (GO:0090136)2.96493485
75Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.95169549
76peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)2.94477082
77polarized epithelial cell differentiation (GO:0030859)2.93583935
78wound healing, spreading of cells (GO:0044319)2.93542157
79positive regulation of fatty acid beta-oxidation (GO:0032000)2.92017353
80regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)2.90697419
81cell proliferation involved in kidney development (GO:0072111)2.90075619
82cellular response to vitamin (GO:0071295)2.86515465
83regulation of establishment of planar polarity (GO:0090175)2.86467012
84regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.85806265
85regulation of gastrulation (GO:0010470)2.83705018
86tooth mineralization (GO:0034505)2.82796657
87stress fiber assembly (GO:0043149)2.81517349
88regulation of extracellular matrix disassembly (GO:0010715)2.81294093
89regulation of mesenchymal cell proliferation (GO:0010464)2.80329769
90virion attachment to host cell (GO:0019062)2.79416273
91adhesion of symbiont to host cell (GO:0044650)2.79416273
92face morphogenesis (GO:0060325)2.79317150
93negative regulation of smooth muscle cell migration (GO:0014912)2.79008418
94peptidyl-proline hydroxylation (GO:0019511)2.77724143
95middle ear morphogenesis (GO:0042474)2.77672708
96positive regulation of osteoblast proliferation (GO:0033690)2.76810265
97eye morphogenesis (GO:0048592)2.73217613
98non-canonical Wnt signaling pathway (GO:0035567)2.71972056
99cardiac myofibril assembly (GO:0055003)2.69844802
100regulation of cartilage development (GO:0061035)2.68974422
101protein retention in ER lumen (GO:0006621)2.68132047
102regulation of branching involved in salivary gland morphogenesis (GO:0060693)2.68131962
103protein localization to cell surface (GO:0034394)2.67416446
104endothelial cell morphogenesis (GO:0001886)2.66967228
105substrate adhesion-dependent cell spreading (GO:0034446)2.66962922
106mesenchyme morphogenesis (GO:0072132)2.65364813
107positive regulation of fatty acid oxidation (GO:0046321)2.65177046
108camera-type eye morphogenesis (GO:0048593)2.64775199
109substrate-dependent cell migration (GO:0006929)2.63881976
110paraxial mesoderm development (GO:0048339)2.63141737
111chondroitin sulfate biosynthetic process (GO:0030206)2.62692864
112type B pancreatic cell proliferation (GO:0044342)2.62153520
113regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)2.60961060
114regulation of transforming growth factor beta2 production (GO:0032909)2.60918728
115cranial suture morphogenesis (GO:0060363)2.60852364
116venous blood vessel morphogenesis (GO:0048845)2.60787636
117maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.60665587
118regulation of chondrocyte differentiation (GO:0032330)2.60573205
119protein hydroxylation (GO:0018126)2.60457595
120heart morphogenesis (GO:0003007)2.60271322
121Golgi transport vesicle coating (GO:0048200)2.55721079
122COPI coating of Golgi vesicle (GO:0048205)2.55721079
123cochlea morphogenesis (GO:0090103)2.52497829
124muscle cell migration (GO:0014812)2.51882158
125barbed-end actin filament capping (GO:0051016)2.51556059
126endocrine hormone secretion (GO:0060986)2.48819656
127negative regulation of BMP signaling pathway (GO:0030514)2.48640319
128positive regulation of phosphoprotein phosphatase activity (GO:0032516)2.47622149
129regulation of axon extension involved in axon guidance (GO:0048841)2.46034387

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human5.98179592
2TP63_17297297_ChIP-ChIP_HaCaT_Human5.44436300
3RARG_19884340_ChIP-ChIP_MEFs_Mouse3.95975497
4PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse3.88865137
5CLOCK_20551151_ChIP-Seq_293T_Human3.21858243
6* ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.88113619
7* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.82338349
8NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.60368025
9* CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse2.55129303
10* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse2.54054920
11WT1_19549856_ChIP-ChIP_CCG9911_Human2.39149957
12* CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse2.32146398
13EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.31173841
14CJUN_26792858_Chip-Seq_BT549_Human2.30653323
15WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse2.24051340
16EP300_21415370_ChIP-Seq_HL-1_Mouse2.14101732
17BRD4_25478319_ChIP-Seq_HGPS_Human1.99988746
18PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.95295412
19STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.91089050
20TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.87068826
21HIF1A_21447827_ChIP-Seq_MCF-7_Human1.79188682
22EED_16625203_ChIP-ChIP_MESCs_Mouse1.77974345
23CDX2_19796622_ChIP-Seq_MESCs_Mouse1.71001843
24EZH2_18974828_ChIP-Seq_MESCs_Mouse1.70074994
25RNF2_18974828_ChIP-Seq_MESCs_Mouse1.70074994
26ELK3_25401928_ChIP-Seq_HUVEC_Human1.60747714
27NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.58250134
28NRF2_20460467_ChIP-Seq_MEFs_Mouse1.58250134
29STAT6_21828071_ChIP-Seq_BEAS2B_Human1.55878444
30ESR1_21235772_ChIP-Seq_MCF-7_Human1.55473118
31PPAR_26484153_Chip-Seq_NCI-H1993_Human1.55186489
32SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.54359699
33EGR1_19374776_ChIP-ChIP_THP-1_Human1.54147591
34SOX9_24532713_ChIP-Seq_HFSC_Mouse1.50711462
35P300_27058665_Chip-Seq_ZR-75-30cells_Human1.49284842
36SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.47913237
37ISL1_27105846_Chip-Seq_CPCs_Mouse1.43418726
38TP53_18474530_ChIP-ChIP_U2OS_Human1.42772527
39ESR2_21235772_ChIP-Seq_MCF-7_Human1.42726872
40TP53_20018659_ChIP-ChIP_R1E_Mouse1.41127275
41PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.39947378
42CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.38526517
43RBPJ_22232070_ChIP-Seq_NCS_Mouse1.38502711
44DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.38357400
45SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.38209948
46ZFP281_18757296_ChIP-ChIP_E14_Mouse1.38077369
47TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.37904634
48HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.37863542
49GBX2_23144817_ChIP-Seq_PC3_Human1.36597546
50SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.35302961
51PIAS1_25552417_ChIP-Seq_VCAP_Human1.35271350
52UBF1/2_26484160_Chip-Seq_HMECs_Human1.34551007
53* SMC1_22415368_ChIP-Seq_MEFs_Mouse1.33490758
54TP53_16413492_ChIP-PET_HCT116_Human1.33086550
55TBX20_22080862_ChIP-Seq_HEART_Mouse1.32319012
56TBX20_22328084_ChIP-Seq_HEART_Mouse1.32319012
57RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.32238326
58THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.31136395
59SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.30835489
60SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.30306075
61SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.30306075
62SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.29960781
63* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.29483049
64TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.29092385
65JARID2_20064375_ChIP-Seq_MESCs_Mouse1.25403182
66ZNF217_24962896_ChIP-Seq_MCF-7_Human1.23888948
67KDM2B_26808549_Chip-Seq_SUP-B15_Human1.22307226
68NFIB_24661679_ChIP-Seq_LUNG_Mouse1.21045685
69KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.21006854
70UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.20385782
71SMAD_19615063_ChIP-ChIP_OVARY_Human1.19790566
72EZH2_27304074_Chip-Seq_ESCs_Mouse1.19249302
73PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.18331485
74TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.17663910
75JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.17512161
76FOXO3_23340844_ChIP-Seq_DLD1_Human1.15979491
77KDM2B_26808549_Chip-Seq_K562_Human1.15233790
78JARID2_20075857_ChIP-Seq_MESCs_Mouse1.14352435
79WT1_25993318_ChIP-Seq_PODOCYTE_Human1.13832345
80SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.13486583
81JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.13164156
82ZFP281_27345836_Chip-Seq_ESCs_Mouse1.11125844
83CTNNB1_20460455_ChIP-Seq_HCT116_Human1.10305598
84NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.09765818
85PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.09379497
86FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.08777638
87GATA2_21666600_ChIP-Seq_HMVEC_Human1.06213777
88FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.04876385
89TP53_22127205_ChIP-Seq_IMR90_Human1.03985838
90RNF2_27304074_Chip-Seq_ESCs_Mouse1.03536478
91* SMC3_22415368_ChIP-Seq_MEFs_Mouse1.03384666
92AHR_22903824_ChIP-Seq_MCF-7_Human1.03041350
93SOX2_20726797_ChIP-Seq_SW620_Human1.02215702
94ESR1_20079471_ChIP-ChIP_T-47D_Human1.01413026
95ATF3_27146783_Chip-Seq_COLON_Human1.01256556
96KDM2B_26808549_Chip-Seq_JURKAT_Human0.99765404
97SALL4_18804426_ChIP-ChIP_XEN_Mouse0.99406844
98ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.99356269
99DROSHA_22980978_ChIP-Seq_HELA_Human0.98401991
100RING1B_27294783_Chip-Seq_ESCs_Mouse0.98306678
101* SA1_22415368_ChIP-Seq_MEFs_Mouse0.97541718
102ZNF263_19887448_ChIP-Seq_K562_Human0.97532889
103KDM2B_26808549_Chip-Seq_DND41_Human0.96203851
104RACK7_27058665_Chip-Seq_MCF-7_Human0.95899187
105MTF2_20144788_ChIP-Seq_MESCs_Mouse0.95888945
106NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.95700681
107MEF2A_21415370_ChIP-Seq_HL-1_Mouse0.95571702
108TP53_23651856_ChIP-Seq_MEFs_Mouse0.95408797
109RING1B_27294783_Chip-Seq_NPCs_Mouse0.94509267
110TCF4_18268006_ChIP-ChIP_LS174T_Human0.94162436
111P63_26484246_Chip-Seq_KERATINOCYTES_Human0.94039549
112SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.94036203
113FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human0.93539815
114* EZH2_27294783_Chip-Seq_ESCs_Mouse0.93064046
115ARNT_22903824_ChIP-Seq_MCF-7_Human0.92544475
116AR_21572438_ChIP-Seq_LNCaP_Human0.92136573
117YAP1_20516196_ChIP-Seq_MESCs_Mouse0.91093712
118SUZ12_27294783_Chip-Seq_ESCs_Mouse0.90840356
119TBX3_20139965_ChIP-Seq_MESCs_Mouse0.89624928
120ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.89496463
121TBX3_20139965_ChIP-Seq_ESCs_Mouse0.89312419
122ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.89080823
123NR3C1_23031785_ChIP-Seq_PC12_Mouse0.87381993
124SMAD3_21741376_ChIP-Seq_HESCs_Human0.84872491
125SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.83862508

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1* MP0008438_abnormal_cutaneous_collagen8.75651544
2MP0005275_abnormal_skin_tensile6.59268716
3MP0005503_abnormal_tendon_morphology5.83639157
4MP0003705_abnormal_hypodermis_morpholog3.99019180
5MP0004272_abnormal_basement_membrane3.51485146
6MP0001958_emphysema3.30774321
7MP0003279_aneurysm3.26378458
8MP0006054_spinal_hemorrhage2.75748977
9* MP0002060_abnormal_skin_morphology2.32598771
10MP0005508_abnormal_skeleton_morphology2.18713269
11MP0002108_abnormal_muscle_morphology2.12327315
12MP0005257_abnormal_intraocular_pressure2.11640809
13MP0005623_abnormal_meninges_morphology2.07826623
14MP0000751_myopathy2.04916792
15MP0009384_cardiac_valve_regurgitation1.94434510
16MP0001243_abnormal_dermal_layer1.74225138
17MP0010030_abnormal_orbit_morphology1.73397784
18MP0003385_abnormal_body_wall1.70559767
19MP0009250_abnormal_appendicular_skeleto1.65767067
20MP0003566_abnormal_cell_adhesion1.60867066
21MP0002896_abnormal_bone_mineralization1.47601763
22MP0000013_abnormal_adipose_tissue1.42718840
23MP0000733_abnormal_muscle_development1.40576494
24MP0004134_abnormal_chest_morphology1.37924746
25MP0001542_abnormal_bone_strength1.35117428
26MP0005023_abnormal_wound_healing1.32910266
27MP0002282_abnormal_trachea_morphology1.30465067
28MP0002295_abnormal_pulmonary_circulatio1.30355994
29MP0003045_fibrosis1.24775353
30MP0009053_abnormal_anal_canal1.23974974
31MP0000428_abnormal_craniofacial_morphol1.22511198
32MP0003115_abnormal_respiratory_system1.22445653
33MP0000767_abnormal_smooth_muscle1.19741642
34MP0001299_abnormal_eye_distance/1.18507445
35MP0002932_abnormal_joint_morphology1.15874007
36MP0000534_abnormal_ureter_morphology1.14854347
37MP0005171_absent_coat_pigmentation1.14609220
38MP0003283_abnormal_digestive_organ1.14275423
39MP0003122_maternal_imprinting1.11693684
40MP0002115_abnormal_skeleton_extremities1.11204582
41MP0003091_abnormal_cell_migration1.10919997
42MP0005390_skeleton_phenotype1.10140316
43MP0005076_abnormal_cell_differentiation1.09087580
44MP0009379_abnormal_foot_pigmentation1.08486085
45MP0004858_abnormal_nervous_system1.07765056
46MP0000750_abnormal_muscle_regeneration1.07668663
47MP0003942_abnormal_urinary_system1.05667353
48MP0002168_other_aberrant_phenotype1.03206624
49MP0000163_abnormal_cartilage_morphology1.02416986
50MP0000003_abnormal_adipose_tissue1.01805664
51MP0010368_abnormal_lymphatic_system1.00317163
52MP0009780_abnormal_chondrocyte_physiolo0.96968500
53MP0002249_abnormal_larynx_morphology0.96916171
54MP0010352_gastrointestinal_tract_polyps0.91416938
55MP0003755_abnormal_palate_morphology0.91046337
56MP0000579_abnormal_nail_morphology0.90180223
57MP0000049_abnormal_middle_ear0.89776367
58MP0003935_abnormal_craniofacial_develop0.88176649
59MP0000537_abnormal_urethra_morphology0.87317151
60MP0002113_abnormal_skeleton_development0.86733730
61MP0000762_abnormal_tongue_morphology0.86126644
62MP0000462_abnormal_digestive_system0.84000284
63MP0003941_abnormal_skin_development0.83979548
64MP0002109_abnormal_limb_morphology0.83552760
65MP0002933_joint_inflammation0.83496417
66MP0000432_abnormal_head_morphology0.82514709
67MP0010386_abnormal_urinary_bladder0.82299961
68MP0002998_abnormal_bone_remodeling0.80613520
69MP0002938_white_spotting0.80571949
70MP0002116_abnormal_craniofacial_bone0.78589665
71MP0002089_abnormal_postnatal_growth/wei0.78432764
72MP0005369_muscle_phenotype0.78268166
73* MP0010771_integument_phenotype0.76069319
74MP0003937_abnormal_limbs/digits/tail_de0.73798569
75MP0002128_abnormal_blood_circulation0.73691053
76MP0005375_adipose_tissue_phenotype0.73147760
77MP0004087_abnormal_muscle_fiber0.73018119
78MP0003950_abnormal_plasma_membrane0.72207213
79MP0001879_abnormal_lymphatic_vessel0.71593021
80MP0004145_abnormal_muscle_electrophysio0.71195666
81MP0000759_abnormal_skeletal_muscle0.70747765
82MP0002233_abnormal_nose_morphology0.68258917
83MP0002133_abnormal_respiratory_system0.67001733
84MP0005388_respiratory_system_phenotype0.67001733
85MP0004185_abnormal_adipocyte_glucose0.66444279
86MP0005409_darkened_coat_color0.66229692
87MP0001849_ear_inflammation0.65535062
88MP0002837_dystrophic_cardiac_calcinosis0.64820142
89* MP0001614_abnormal_blood_vessel0.64721763
90MP0002114_abnormal_axial_skeleton0.64230081
91MP0002111_abnormal_tail_morphology0.64227399
92MP0000516_abnormal_urinary_system0.63543965
93MP0005367_renal/urinary_system_phenotyp0.63543965
94MP0003795_abnormal_bone_structure0.63028255
95MP0004036_abnormal_muscle_relaxation0.62310620
96MP0001661_extended_life_span0.61623615
97MP0008004_abnormal_stomach_pH0.60786904
98* MP0001175_abnormal_lung_morphology0.60370266
99MP0002925_abnormal_cardiovascular_devel0.60209993
100MP0003567_abnormal_fetal_cardiomyocyte0.60044407
101MP0000749_muscle_degeneration0.59953511
102MP0001915_intracranial_hemorrhage0.59451619
103MP0005595_abnormal_vascular_smooth0.58787547
104MP0003123_paternal_imprinting0.57813154
105MP0001177_atelectasis0.57773357
106MP0005197_abnormal_uvea_morphology0.57417137
107MP0005164_abnormal_response_to0.56820961
108MP0003448_altered_tumor_morphology0.56403280
109MP0004084_abnormal_cardiac_muscle0.54987796
110MP0002106_abnormal_muscle_physiology0.53955466
111MP0003300_gastrointestinal_ulcer0.53892448
112MP0005193_abnormal_anterior_eye0.53525274
113MP0006138_congestive_heart_failure0.53365955
114MP0001348_abnormal_lacrimal_gland0.52046688
115MP0000747_muscle_weakness0.50912514
116MP0005620_abnormal_muscle_contractility0.50844306
117MP0000538_abnormal_urinary_bladder0.47059780

Predicted human phenotypes

RankGene SetZ-score
1Protrusio acetabuli (HP:0003179)8.38373698
2Premature rupture of membranes (HP:0001788)8.05188611
3Ankle contracture (HP:0006466)6.65988556
4Follicular hyperkeratosis (HP:0007502)5.55675856
5Type 1 muscle fiber predominance (HP:0003803)5.26999328
6Broad metatarsal (HP:0001783)5.06087101
7Shallow orbits (HP:0000586)4.86091808
8* Atrophic scars (HP:0001075)4.83200332
9* Aortic dissection (HP:0002647)4.81579490
10Peritonitis (HP:0002586)4.51864350
11* Soft skin (HP:0000977)4.51109180
12Slender build (HP:0001533)4.40848164
13* Fragile skin (HP:0001030)4.15858498
14* Bladder diverticulum (HP:0000015)4.05439604
15Increased connective tissue (HP:0009025)3.93575285
16Spinal rigidity (HP:0003306)3.83256564
17Abnormality of dentin (HP:0010299)3.73406389
18Genu recurvatum (HP:0002816)3.72006343
19* Mitral valve prolapse (HP:0001634)3.67324684
20Neonatal short-limb short stature (HP:0008921)3.61814412
21* Dilatation of the ascending aorta (HP:0005111)3.59417550
22Aortic aneurysm (HP:0004942)3.56372327
23Mildly elevated creatine phosphokinase (HP:0008180)3.47428695
24Increased variability in muscle fiber diameter (HP:0003557)3.47382858
25Wormian bones (HP:0002645)3.16357195
26Bowel diverticulosis (HP:0005222)3.15824851
27* Blue sclerae (HP:0000592)3.06730354
28Wrist flexion contracture (HP:0001239)3.05487614
29Biconcave vertebral bodies (HP:0004586)3.05058617
30Abnormality of skeletal muscle fiber size (HP:0012084)3.03486411
31Cervical subluxation (HP:0003308)3.01259147
32* Cerebral aneurysm (HP:0004944)2.99812600
33Short 4th metacarpal (HP:0010044)2.93998868
34Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.93998868
35Calcaneovalgus deformity (HP:0001848)2.88043266
36Infantile muscular hypotonia (HP:0008947)2.79758391
37* Hyperextensible skin (HP:0000974)2.75999966
38Abnormal delivery (HP:0001787)2.70786920
39Deformed tarsal bones (HP:0008119)2.68266649
40Deviation of the hallux (HP:0010051)2.64821261
41Vertebral compression fractures (HP:0002953)2.64672322
42Distal arthrogryposis (HP:0005684)2.60428623
43Elbow flexion contracture (HP:0002987)2.58844531
44* Joint laxity (HP:0001388)2.58661129
45Overgrowth (HP:0001548)2.56224104
46Wide anterior fontanel (HP:0000260)2.55632882
47Hallux valgus (HP:0001822)2.55241137
48Ectopia lentis (HP:0001083)2.50357603
49Thin bony cortex (HP:0002753)2.48403637
50Mitral regurgitation (HP:0001653)2.44106237
51Abnormality of the 4th metacarpal (HP:0010012)2.42701455
52Absent frontal sinuses (HP:0002688)2.41080132
53Flat cornea (HP:0007720)2.39783221
54Hypoventilation (HP:0002791)2.35947490
55Broad ribs (HP:0000885)2.31814948
56Aortic regurgitation (HP:0001659)2.31489272
57Ulnar deviation of the wrist (HP:0003049)2.29699124
58Round ear (HP:0100830)2.25400269
59Abnormality of the peritoneum (HP:0002585)2.24949916
60Breech presentation (HP:0001623)2.23060578
61Camptodactyly of toe (HP:0001836)2.23025436
62Spondylolisthesis (HP:0003302)2.21170824
63Nonimmune hydrops fetalis (HP:0001790)2.18010024
64Generalized amyotrophy (HP:0003700)2.17244721
65Abnormality of the acetabulum (HP:0003170)2.15944680
66Limited hip movement (HP:0008800)2.15565472
67Limb-girdle muscle weakness (HP:0003325)2.15153707
68Vascular tortuosity (HP:0004948)2.13868854
69Abnormality of the calcaneus (HP:0008364)2.12171459
70Buphthalmos (HP:0000557)2.09088589
71Protruding ear (HP:0000411)2.08321075
72Coronal craniosynostosis (HP:0004440)2.04878062
73Asymmetry of the thorax (HP:0001555)2.04582780
74Morphological abnormality of the middle ear (HP:0008609)2.03829115
75Disproportionate tall stature (HP:0001519)2.03660435
76Aortic valve stenosis (HP:0001650)2.02577766
77Renal duplication (HP:0000075)1.98285842
78Mesomelia (HP:0003027)1.96412875
79* Venous abnormality (HP:0002624)1.95023350
80* Osteoarthritis (HP:0002758)1.93427646
81Arterial tortuosity (HP:0005116)1.92342409
82Broad long bones (HP:0005622)1.91878277
83* Venous insufficiency (HP:0005293)1.91351600
84Thin ribs (HP:0000883)1.90138227
85Tibial bowing (HP:0002982)1.90134367
86Bell-shaped thorax (HP:0001591)1.89909820
87* Aneurysm (HP:0002617)1.89653831
88Ulnar bowing (HP:0003031)1.89171000
89Joint stiffness (HP:0001387)1.89162400
90* Striae distensae (HP:0001065)1.88828227
91Abnormality of skull ossification (HP:0002703)1.88007250
92Hip contracture (HP:0003273)1.85979036
93Mild short stature (HP:0003502)1.84356191
94Knee flexion contracture (HP:0006380)1.84040530
95Femoral bowing (HP:0002980)1.83228149
96* Inguinal hernia (HP:0000023)1.82069308
97Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.81898808
98Abnormality of the ischium (HP:0003174)1.78265431
99Delayed cranial suture closure (HP:0000270)1.78060408
100Cupped ribs (HP:0000887)1.76623105
101* Osteolytic defects of the hand bones (HP:0009699)1.76562678
102* Osteolytic defects of the phalanges of the hand (HP:0009771)1.76562678
103Flexion contracture of toe (HP:0005830)1.75205935
104Joint contractures involving the joints of the feet (HP:0100492)1.75205935
105Persistence of primary teeth (HP:0006335)1.75195846
106* Thin skin (HP:0000963)1.75019682
107Hypoplasia of the iris (HP:0007676)1.73587527
108Pulmonary artery stenosis (HP:0004415)1.73468179
109Thoracolumbar scoliosis (HP:0002944)1.72966173
110Vitreoretinal degeneration (HP:0000655)1.72386943
111Turricephaly (HP:0000262)1.71732182
112Lymphangioma (HP:0100764)1.71491188
113Muscle fiber splitting (HP:0003555)1.71229232
114Delayed closure of the anterior fontanelle (HP:0001476)1.70298661
115Decreased skull ossification (HP:0004331)1.69272233
116Osteopenia (HP:0000938)1.67883032
117Syringomyelia (HP:0003396)1.65957229
118Spinal cord lesions (HP:0100561)1.65957229
119Mitral stenosis (HP:0001718)1.65367336

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TRIB34.68683529
2DDR24.68557156
3PDGFRA4.21961156
4TTN3.74642188
5LATS13.40464540
6SIK13.33560346
7PKN23.04742271
8RIPK12.66986074
9EPHB22.40143947
10LATS22.34001875
11EPHA32.16279226
12TGFBR22.07657244
13ERN12.07337720
14FGFR21.88785515
15PTK61.77311492
16FER1.72462649
17PAK21.66971994
18CAMK1D1.64274176
19FGFR11.62606134
20PDGFRB1.60976923
21BMX1.59717721
22MAP3K101.53443923
23DMPK1.49998222
24STK31.45069541
25MAP3K61.43456372
26PAK41.39104475
27MET1.37301138
28AKT31.34958066
29PTK21.34499357
30FRK1.30986310
31EEF2K1.29787798
32CAMK1G1.21284716
33MTOR1.16760512
34MYLK1.15221177
35TRPM71.12964169
36STK381.12872938
37ILK1.09952337
38EPHB11.08842622
39NLK1.08657422
40MAPK71.08179733
41LRRK21.07147629
42NEK91.04404662
43FGFR41.04240476
44ROCK11.03460668
45PTK2B0.99028112
46ICK0.94118572
47PIK3CA0.91821714
48RET0.87308220
49FGFR30.85977486
50PAK30.83656876
51PRKCH0.79218705
52FLT30.74693001
53RPS6KA40.73333102
54CDK60.73243687
55ROCK20.72569373
56LMTK20.69785908
57JAK10.68516198
58BRD40.68162401
59PRKD20.67728655
60CLK10.67048159
61PRKD10.66784559
62PRKD30.65394426
63MST1R0.65220402
64TGFBR10.64615331
65NTRK10.61356282
66TYRO30.60620854
67KIT0.60011947
68STK38L0.59711614
69MAP2K10.59399816
70PRPF4B0.56133947
71INSR0.54977550
72SCYL20.54186137
73MOS0.52093103
74NUAK10.50099540
75PRKG20.49757762
76TYK20.48977770
77CDK120.48846069
78CDC42BPA0.47201152
79ERBB20.46678805
80SRC0.45859855
81WNK10.43973791
82MARK10.43658395
83DYRK1B0.43020446
84ERBB30.42970838
85GSK3A0.42429316
86MARK20.42218045
87PLK20.41207813
88PIK3CG0.40861616
89MAP3K70.40394613
90ADRBK10.39740253
91MUSK0.38777184
92MAPKAPK30.38597022
93MELK0.38258513
94DAPK30.37799546
95RPS6KA60.36599396
96MAPK40.36324526
97PDK30.36296944
98PDK40.36296944
99ERBB40.35442824
100MAPK10.34502252
101LIMK10.34378967
102JAK30.31850074
103PAK10.30881788
104ABL20.29356050
105CHUK0.29000555
106OBSCN0.28927416
107IGF1R0.27218310
108CAMK2G0.27046991
109TIE10.25885265
110MAPK120.25601813
111RPS6KA20.25143021
112TESK10.24891662
113MAP3K30.24404057
114CDK90.23972623
115PAK60.23658778
116ABL10.22274479
117PRKCE0.21636353
118CAMKK10.19853345
119RPS6KL10.18541049
120RPS6KC10.18541049

Predicted pathways (KEGG)

RankGene SetZ-score
1ECM-receptor interaction_Homo sapiens_hsa045125.48015643
2* Protein digestion and absorption_Homo sapiens_hsa049743.86020692
3Focal adhesion_Homo sapiens_hsa045103.40012524
4Basal cell carcinoma_Homo sapiens_hsa052172.39515941
5* Amoebiasis_Homo sapiens_hsa051462.39159150
6Proteoglycans in cancer_Homo sapiens_hsa052052.28893267
7Hedgehog signaling pathway_Homo sapiens_hsa043402.22318176
8Small cell lung cancer_Homo sapiens_hsa052222.16205474
9Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.13752893
10Dilated cardiomyopathy_Homo sapiens_hsa054142.07651229
11Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054102.03887733
12* AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.97671727
13Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.93696847
14Adherens junction_Homo sapiens_hsa045201.90894534
15PI3K-Akt signaling pathway_Homo sapiens_hsa041511.79161098
16TGF-beta signaling pathway_Homo sapiens_hsa043501.74876767
17Malaria_Homo sapiens_hsa051441.74344919
18Hippo signaling pathway_Homo sapiens_hsa043901.69202751
19Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.62252654
20MicroRNAs in cancer_Homo sapiens_hsa052061.58617156
21Chronic myeloid leukemia_Homo sapiens_hsa052201.47686866
22Viral myocarditis_Homo sapiens_hsa054161.46372257
23Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.44380428
24Bladder cancer_Homo sapiens_hsa052191.44166856
25Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.36334652
26Melanoma_Homo sapiens_hsa052181.32475557
27Pathways in cancer_Homo sapiens_hsa052001.28087325
28Toxoplasmosis_Homo sapiens_hsa051451.22673154
29Prostate cancer_Homo sapiens_hsa052151.19322232
30Complement and coagulation cascades_Homo sapiens_hsa046101.17064125
31Glioma_Homo sapiens_hsa052141.17015098
32Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.16897808
33Axon guidance_Homo sapiens_hsa043601.12110033
34Wnt signaling pathway_Homo sapiens_hsa043101.11818654
35Regulation of actin cytoskeleton_Homo sapiens_hsa048101.10083211
36Central carbon metabolism in cancer_Homo sapiens_hsa052301.08092987
37Leukocyte transendothelial migration_Homo sapiens_hsa046701.03241422
38Pancreatic cancer_Homo sapiens_hsa052121.00899816
39Notch signaling pathway_Homo sapiens_hsa043301.00695879
40Tight junction_Homo sapiens_hsa045300.99030221
41* Platelet activation_Homo sapiens_hsa046110.98371184
42Melanogenesis_Homo sapiens_hsa049160.95445898
43Insulin resistance_Homo sapiens_hsa049310.93478435
44Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.88810172
45HTLV-I infection_Homo sapiens_hsa051660.85767242
46Endometrial cancer_Homo sapiens_hsa052130.85224454
47Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.84818284
48Rap1 signaling pathway_Homo sapiens_hsa040150.84312415
49Estrogen signaling pathway_Homo sapiens_hsa049150.84128954
50Other glycan degradation_Homo sapiens_hsa005110.83668225
51Colorectal cancer_Homo sapiens_hsa052100.83056393
52Longevity regulating pathway - mammal_Homo sapiens_hsa042110.79487040
53Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.76989757
54AMPK signaling pathway_Homo sapiens_hsa041520.76756093
55mTOR signaling pathway_Homo sapiens_hsa041500.76702404
56Renin-angiotensin system_Homo sapiens_hsa046140.75742738
57Lysine degradation_Homo sapiens_hsa003100.74521711
58TNF signaling pathway_Homo sapiens_hsa046680.73454811
59Pertussis_Homo sapiens_hsa051330.72156271
60Renal cell carcinoma_Homo sapiens_hsa052110.71053421
61PPAR signaling pathway_Homo sapiens_hsa033200.70788850
62Adipocytokine signaling pathway_Homo sapiens_hsa049200.69757182
63Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.69250358
64cGMP-PKG signaling pathway_Homo sapiens_hsa040220.67549964
65Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.67136304
66Thyroid hormone signaling pathway_Homo sapiens_hsa049190.65303958
67Choline metabolism in cancer_Homo sapiens_hsa052310.65125141
68Gap junction_Homo sapiens_hsa045400.63312650
69Vascular smooth muscle contraction_Homo sapiens_hsa042700.63167082
70Insulin signaling pathway_Homo sapiens_hsa049100.62115070
71Ovarian steroidogenesis_Homo sapiens_hsa049130.60484184
72Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.60334609
73Fatty acid biosynthesis_Homo sapiens_hsa000610.59761647
74GnRH signaling pathway_Homo sapiens_hsa049120.58239954
75Thyroid hormone synthesis_Homo sapiens_hsa049180.58166167
76Phospholipase D signaling pathway_Homo sapiens_hsa040720.55114697
77HIF-1 signaling pathway_Homo sapiens_hsa040660.54499719
78Neurotrophin signaling pathway_Homo sapiens_hsa047220.53613482
79Prolactin signaling pathway_Homo sapiens_hsa049170.51714664
80FoxO signaling pathway_Homo sapiens_hsa040680.51065439
81Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.51029302
82MAPK signaling pathway_Homo sapiens_hsa040100.50744047
83Hepatitis B_Homo sapiens_hsa051610.50614229
84Ras signaling pathway_Homo sapiens_hsa040140.50310807
85Dorso-ventral axis formation_Homo sapiens_hsa043200.48265462
86p53 signaling pathway_Homo sapiens_hsa041150.48072488
87Endocytosis_Homo sapiens_hsa041440.46252661
88Acute myeloid leukemia_Homo sapiens_hsa052210.46053990
89Oxytocin signaling pathway_Homo sapiens_hsa049210.45637359
90VEGF signaling pathway_Homo sapiens_hsa043700.45605794
91Thyroid cancer_Homo sapiens_hsa052160.44480579
92Lysosome_Homo sapiens_hsa041420.43615751
93Non-small cell lung cancer_Homo sapiens_hsa052230.43125802
94Salmonella infection_Homo sapiens_hsa051320.43027150
95Prion diseases_Homo sapiens_hsa050200.42989818
96Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.42679741
97Renin secretion_Homo sapiens_hsa049240.42618382
98Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.42226499
99Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.42136045
100Viral carcinogenesis_Homo sapiens_hsa052030.42065219
101Cocaine addiction_Homo sapiens_hsa050300.41016645
102Aldosterone synthesis and secretion_Homo sapiens_hsa049250.40601999
103Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.40530347
104Phagosome_Homo sapiens_hsa041450.39559587
105Shigellosis_Homo sapiens_hsa051310.38926371
106Transcriptional misregulation in cancer_Homo sapiens_hsa052020.38483935
107cAMP signaling pathway_Homo sapiens_hsa040240.38451317
108Calcium signaling pathway_Homo sapiens_hsa040200.38123292
109N-Glycan biosynthesis_Homo sapiens_hsa005100.37855439
110Glucagon signaling pathway_Homo sapiens_hsa049220.37775811
111ErbB signaling pathway_Homo sapiens_hsa040120.36791014
112Glycosaminoglycan degradation_Homo sapiens_hsa005310.35556528
113Apoptosis_Homo sapiens_hsa042100.35515257
114Fatty acid metabolism_Homo sapiens_hsa012120.35500040
115Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.34769974
116Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.34520437
117Gastric acid secretion_Homo sapiens_hsa049710.32201594

Most similar genes based on co-expression Upload to Enrichr

Tissue Expression Export image »

Cell Line Expression Export image »