COL5A1

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 an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. The encoded procollagen protein occurs commonly as the heterotrimer pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V). Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. Alternative splicing of this gene results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1protein heterotrimerization (GO:0070208)8.77987080
2* collagen fibril organization (GO:0030199)7.50238954
3bone trabecula formation (GO:0060346)7.18049821
4sequestering of extracellular ligand from receptor (GO:0035581)6.34554756
5skin morphogenesis (GO:0043589)6.15516307
6chondrocyte proliferation (GO:0035988)6.11718287
7endodermal cell differentiation (GO:0035987)6.08434943
8* collagen metabolic process (GO:0032963)5.30567745
9* collagen catabolic process (GO:0030574)5.22160735
10* multicellular organismal macromolecule metabolic process (GO:0044259)4.96421016
11negative regulation of fatty acid transport (GO:2000192)4.80486337
12* multicellular organismal catabolic process (GO:0044243)4.77278820
13axon extension involved in axon guidance (GO:0048846)4.72068250
14neuron projection extension involved in neuron projection guidance (GO:1902284)4.72068250
15* multicellular organismal metabolic process (GO:0044236)4.66779137
16positive regulation of endothelial cell apoptotic process (GO:2000353)4.65781933
17regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)4.65258612
18cartilage development involved in endochondral bone morphogenesis (GO:0060351)4.64124006
19* extracellular matrix disassembly (GO:0022617)4.45683555
20cell adhesion mediated by integrin (GO:0033627)4.34322601
21mesenchymal-epithelial cell signaling (GO:0060638)4.16554635
22extracellular matrix assembly (GO:0085029)4.09623710
23craniofacial suture morphogenesis (GO:0097094)4.08923302
24basement membrane organization (GO:0071711)4.04021493
25planar cell polarity pathway involved in neural tube closure (GO:0090179)4.02515652
26dermatan sulfate biosynthetic process (GO:0030208)3.83599419
27negative regulation of chondrocyte differentiation (GO:0032331)3.82043357
28regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.81076582
29epithelial cell-cell adhesion (GO:0090136)3.73995036
30protein retention in ER lumen (GO:0006621)3.73404555
31cellular response to vitamin (GO:0071295)3.69351221
32peptidyl-proline hydroxylation (GO:0019511)3.68296198
33plasma membrane repair (GO:0001778)3.66206170
34metanephric mesenchyme development (GO:0072075)3.61420566
35apoptotic cell clearance (GO:0043277)3.61379408
36positive regulation of epithelial to mesenchymal transition (GO:0010718)3.60340386
37maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.60144417
38cellular response to vitamin D (GO:0071305)3.58478239
39cellular response to amino acid stimulus (GO:0071230)3.53637373
40outer ear morphogenesis (GO:0042473)3.53633230
41type B pancreatic cell proliferation (GO:0044342)3.48172158
42extracellular negative regulation of signal transduction (GO:1900116)3.46770548
43extracellular regulation of signal transduction (GO:1900115)3.46770548
44COPI coating of Golgi vesicle (GO:0048205)3.46098275
45Golgi transport vesicle coating (GO:0048200)3.46098275
46dermatan sulfate metabolic process (GO:0030205)3.45232996
47kidney mesenchyme development (GO:0072074)3.40612514
48endocardial cushion development (GO:0003197)3.38322317
49tooth mineralization (GO:0034505)3.36283096
50G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071993.32885231
51* extracellular matrix organization (GO:0030198)3.32561207
52hippo signaling (GO:0035329)3.31262486
53* extracellular structure organization (GO:0043062)3.31258976
54retina vasculature morphogenesis in camera-type eye (GO:0061299)3.29967599
55negative regulation of cartilage development (GO:0061037)3.28465793
56chondrocyte development (GO:0002063)3.27736668
57trabecula formation (GO:0060343)3.27413419
58cell migration involved in heart development (GO:0060973)3.27300608
59polarized epithelial cell differentiation (GO:0030859)3.26421276
60vascular endothelial growth factor signaling pathway (GO:0038084)3.23849155
61protein hydroxylation (GO:0018126)3.23256097
62* extracellular fibril organization (GO:0043206)3.22210551
63regulation of tight junction assembly (GO:2000810)3.20025210
64embryonic cranial skeleton morphogenesis (GO:0048701)3.19899174
65regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.18027238
66stress fiber assembly (GO:0043149)3.17607336
67positive regulation of osteoblast proliferation (GO:0033690)3.15694571
68insulin-like growth factor receptor signaling pathway (GO:0048009)3.14334611
69keratan sulfate catabolic process (GO:0042340)3.13836503
70venous blood vessel morphogenesis (GO:0048845)3.13393633
71cell proliferation involved in metanephros development (GO:0072203)3.12035805
72anatomical structure regression (GO:0060033)3.09221340
73peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)3.09040555
74cranial suture morphogenesis (GO:0060363)3.09032085
75cochlea morphogenesis (GO:0090103)3.07777000
76glomerular basement membrane development (GO:0032836)3.07322940
77negative regulation of catenin import into nucleus (GO:0035414)3.03750307
78positive regulation of fibroblast migration (GO:0010763)3.02382641
79protein localization to cell surface (GO:0034394)3.01928315
80* fibril organization (GO:0097435)3.01466934
81middle ear morphogenesis (GO:0042474)2.98390872
82substrate adhesion-dependent cell spreading (GO:0034446)2.97743806
83negative regulation of adherens junction organization (GO:1903392)2.96042237
84negative regulation of focal adhesion assembly (GO:0051895)2.96042237
85negative regulation of cell junction assembly (GO:1901889)2.96042237
86negative regulation of smooth muscle cell migration (GO:0014912)2.95757000
87blood vessel maturation (GO:0001955)2.94520000
88chondroitin sulfate biosynthetic process (GO:0030206)2.94159632
89heparan sulfate proteoglycan biosynthetic process (GO:0015012)2.93866874
90positive regulation of blood vessel endothelial cell migration (GO:0043536)2.91495745
91hemidesmosome assembly (GO:0031581)2.89730862
92substrate-dependent cell migration (GO:0006929)2.89252525
93positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr2.89222719
94protein trimerization (GO:0070206)2.87997502
95cell-substrate junction assembly (GO:0007044)2.87490156
96regulation of cartilage development (GO:0061035)2.85252715
97glial cell migration (GO:0008347)2.85001743
98regulation of axon extension involved in axon guidance (GO:0048841)2.84228721
99barbed-end actin filament capping (GO:0051016)2.84114111
100regulation of transforming growth factor beta2 production (GO:0032909)2.84043422
101vascular endothelial growth factor receptor signaling pathway (GO:0048010)2.82933114
102adhesion of symbiont to host cell (GO:0044650)2.82267770
103virion attachment to host cell (GO:0019062)2.82267770
104endothelial cell morphogenesis (GO:0001886)2.80714948
105cell migration involved in sprouting angiogenesis (GO:0002042)2.80524749
106Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.80395465
107epoxygenase P450 pathway (GO:0019373)2.80243751
108endochondral ossification (GO:0001958)2.79572278
109replacement ossification (GO:0036075)2.79572278
110positive regulation of cartilage development (GO:0061036)2.77646376
111negative regulation of axon extension involved in axon guidance (GO:0048843)2.77425734
112adherens junction assembly (GO:0034333)2.76702054
113cellular response to interferon-alpha (GO:0035457)2.76553377
114muscle cell migration (GO:0014812)2.75386450
115regulation of plasminogen activation (GO:0010755)2.74767577
116regulation of establishment of planar polarity (GO:0090175)2.72655169
117cellular response to vascular endothelial growth factor stimulus (GO:0035924)2.72155019
118cell-substrate adherens junction assembly (GO:0007045)2.70549492
119focal adhesion assembly (GO:0048041)2.70549492
120glomerular filtration (GO:0003094)2.69215490
121wound healing (GO:0042060)2.69118126
122regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition 2.68003080
123negative regulation of BMP signaling pathway (GO:0030514)2.67194362
124dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.66791917
125smooth muscle tissue development (GO:0048745)2.66780227
126regulation of chondrocyte differentiation (GO:0032330)2.65735150
127response to fluid shear stress (GO:0034405)2.65287262
128paraxial mesoderm development (GO:0048339)2.65186307
129face morphogenesis (GO:0060325)2.64097462
130cell-matrix adhesion (GO:0007160)2.63381420
131sprouting angiogenesis (GO:0002040)2.57965465
132non-canonical Wnt signaling pathway (GO:0035567)2.56639234

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* TRIM28_21343339_ChIP-Seq_HEK293_Human5.79257281
2TP63_17297297_ChIP-ChIP_HaCaT_Human5.78652861
3RARG_19884340_ChIP-ChIP_MEFs_Mouse4.83072029
4PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse4.33407296
5* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse3.22742165
6CLOCK_20551151_ChIP-Seq_293T_Human3.08079570
7* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human3.03922426
8NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.87164537
9WT1_19549856_ChIP-ChIP_CCG9911_Human2.62239299
10ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.49410594
11* CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse2.45964096
12EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.43747303
13* WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse2.40653941
14CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse2.40209919
15HIF1A_21447827_ChIP-Seq_MCF-7_Human2.25473562
16* CJUN_26792858_Chip-Seq_BT549_Human2.24069035
17* BRD4_25478319_ChIP-Seq_HGPS_Human2.21763222
18EGR1_19374776_ChIP-ChIP_THP-1_Human2.21609746
19ELK3_25401928_ChIP-Seq_HUVEC_Human2.16582746
20TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.13837846
21EP300_21415370_ChIP-Seq_HL-1_Mouse2.01103653
22TP53_20018659_ChIP-ChIP_R1E_Mouse1.82861003
23THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.79956147
24* P300_27058665_Chip-Seq_ZR-75-30cells_Human1.73631868
25HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.72585629
26* SMC1_22415368_ChIP-Seq_MEFs_Mouse1.69059278
27NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.65470309
28TP53_22127205_ChIP-Seq_IMR90_Human1.63563937
29EED_16625203_ChIP-ChIP_MESCs_Mouse1.61626046
30* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.59045937
31SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.57581491
32RNF2_18974828_ChIP-Seq_MESCs_Mouse1.56302825
33EZH2_18974828_ChIP-Seq_MESCs_Mouse1.56302825
34STAT6_21828071_ChIP-Seq_BEAS2B_Human1.54824529
35* NRF2_20460467_ChIP-Seq_MEFs_Mouse1.54020857
36* NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.54020857
37KDM2B_26808549_Chip-Seq_SUP-B15_Human1.51196929
38PPAR_26484153_Chip-Seq_NCI-H1993_Human1.51130319
39SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.51085310
40SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.51085310
41UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.50073751
42ESR2_21235772_ChIP-Seq_MCF-7_Human1.49934521
43ATF3_27146783_Chip-Seq_COLON_Human1.49520855
44ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.48629829
45UBF1/2_26484160_Chip-Seq_HMECs_Human1.46018085
46* TP53_23651856_ChIP-Seq_MEFs_Mouse1.45440639
47GATA2_21666600_ChIP-Seq_HMVEC_Human1.40429062
48TP53_16413492_ChIP-PET_HCT116_Human1.38745599
49PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.38293884
50TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.37367334
51ESR1_15608294_ChIP-ChIP_MCF-7_Human1.37288310
52DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.35670362
53ZFP281_27345836_Chip-Seq_ESCs_Mouse1.34453211
54ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.34010505
55SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.33718965
56TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.33059798
57SMAD_19615063_ChIP-ChIP_OVARY_Human1.32133688
58ESR1_21235772_ChIP-Seq_MCF-7_Human1.32078049
59* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.32031902
60* RNF2_27304074_Chip-Seq_ESCs_Mouse1.31926792
61SMC3_22415368_ChIP-Seq_MEFs_Mouse1.31447922
62* MTF2_20144788_ChIP-Seq_MESCs_Mouse1.31303926
63TBX20_22080862_ChIP-Seq_HEART_Mouse1.31217534
64TBX20_22328084_ChIP-Seq_HEART_Mouse1.31217534
65RACK7_27058665_Chip-Seq_MCF-7_Human1.30915200
66ISL1_27105846_Chip-Seq_CPCs_Mouse1.30351442
67TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.29999268
68* JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.29775967
69TP53_18474530_ChIP-ChIP_U2OS_Human1.29619720
70KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.29505825
71* SOX9_24532713_ChIP-Seq_HFSC_Mouse1.26919782
72* JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.26854754
73RBPJ_22232070_ChIP-Seq_NCS_Mouse1.26686801
74KDM2B_26808549_Chip-Seq_K562_Human1.24741089
75SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.21914244
76MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.20760672
77KDM2B_26808549_Chip-Seq_DND41_Human1.17919697
78SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.16999216
79SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.16779600
80JARID2_20064375_ChIP-Seq_MESCs_Mouse1.16545392
81CDX2_19796622_ChIP-Seq_MESCs_Mouse1.16373944
82* EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.16263666
83* LXR_22292898_ChIP-Seq_THP-1_Human1.16144980
84* SA1_22415368_ChIP-Seq_MEFs_Mouse1.15826848
85SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.15507832
86PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.15361723
87FOXO3_23340844_ChIP-Seq_DLD1_Human1.14373718
88* SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.13538380
89ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.13141690
90NFIB_24661679_ChIP-Seq_LUNG_Mouse1.12544141
91KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.11129759
92SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.10662298
93* TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.10506779
94FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.09468471
95RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.08898397
96ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.08674127
97TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.07139191
98KDM2B_26808549_Chip-Seq_JURKAT_Human1.07121376
99WT1_25993318_ChIP-Seq_PODOCYTE_Human1.06463796
100CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.06341911
101RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.05973080
102* SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.05477683
103SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.04255418
104JARID2_20075857_ChIP-Seq_MESCs_Mouse1.02678235
105P63_26484246_Chip-Seq_KERATINOCYTES_Human1.00101187
106SALL4_18804426_ChIP-ChIP_XEN_Mouse0.99934874
107SOX2_20726797_ChIP-Seq_SW620_Human0.99205473
108CTNNB1_20460455_ChIP-Seq_HCT116_Human0.98874416
109RING1B_27294783_Chip-Seq_ESCs_Mouse0.97161429
110NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.96652276
111KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.96203112
112CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.95467703
113POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.94340738
114TCF3_18692474_ChIP-Seq_MEFs_Mouse0.93693689
115RING1B_27294783_Chip-Seq_NPCs_Mouse0.93498860
116EZH2_27304074_Chip-Seq_ESCs_Mouse0.93070199
117* PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.91702674

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1* MP0008438_abnormal_cutaneous_collagen8.50086171
2MP0005503_abnormal_tendon_morphology5.34436713
3* MP0005275_abnormal_skin_tensile5.13592572
4MP0003705_abnormal_hypodermis_morpholog4.57032705
5MP0003279_aneurysm4.11007628
6MP0001958_emphysema3.33134737
7MP0004272_abnormal_basement_membrane3.06884589
8MP0006054_spinal_hemorrhage2.75114358
9MP0005623_abnormal_meninges_morphology2.72601948
10MP0005257_abnormal_intraocular_pressure2.59973137
11MP0009384_cardiac_valve_regurgitation2.41469002
12MP0005508_abnormal_skeleton_morphology2.25120201
13MP0010030_abnormal_orbit_morphology2.06671939
14* MP0002060_abnormal_skin_morphology2.04989004
15MP0003566_abnormal_cell_adhesion2.02393184
16MP0010352_gastrointestinal_tract_polyps1.91625810
17MP0003385_abnormal_body_wall1.84563546
18MP0002108_abnormal_muscle_morphology1.82460829
19MP0002295_abnormal_pulmonary_circulatio1.80586893
20MP0001542_abnormal_bone_strength1.79745976
21MP0009250_abnormal_appendicular_skeleto1.78646107
22MP0005023_abnormal_wound_healing1.74012361
23* MP0001243_abnormal_dermal_layer1.69404384
24MP0003091_abnormal_cell_migration1.61026423
25MP0000013_abnormal_adipose_tissue1.58481736
26MP0002896_abnormal_bone_mineralization1.55198210
27MP0000733_abnormal_muscle_development1.50544509
28MP0000751_myopathy1.48642542
29MP0003283_abnormal_digestive_organ1.46885580
30MP0001348_abnormal_lacrimal_gland1.44373431
31MP0004134_abnormal_chest_morphology1.43972612
32MP0009053_abnormal_anal_canal1.39549332
33MP0000767_abnormal_smooth_muscle1.36227942
34MP0004858_abnormal_nervous_system1.35846831
35MP0001299_abnormal_eye_distance/1.33360192
36MP0002932_abnormal_joint_morphology1.31523188
37MP0000428_abnormal_craniofacial_morphol1.26907701
38MP0003950_abnormal_plasma_membrane1.22304473
39MP0005390_skeleton_phenotype1.22050380
40MP0002282_abnormal_trachea_morphology1.21740528
41MP0001879_abnormal_lymphatic_vessel1.16891198
42MP0002115_abnormal_skeleton_extremities1.15328391
43MP0000163_abnormal_cartilage_morphology1.13640397
44MP0003942_abnormal_urinary_system1.12735092
45MP0000750_abnormal_muscle_regeneration1.12353477
46MP0003115_abnormal_respiratory_system1.11953515
47MP0009780_abnormal_chondrocyte_physiolo1.09340711
48MP0003755_abnormal_palate_morphology1.07459749
49MP0003045_fibrosis1.06647486
50MP0000534_abnormal_ureter_morphology1.05042998
51MP0005076_abnormal_cell_differentiation1.01354658
52MP0002877_abnormal_melanocyte_morpholog1.01176245
53MP0000003_abnormal_adipose_tissue0.99873167
54MP0003122_maternal_imprinting0.99574344
55MP0000049_abnormal_middle_ear0.98125233
56MP0002168_other_aberrant_phenotype0.97421931
57MP0002113_abnormal_skeleton_development0.97263911
58MP0002933_joint_inflammation0.97060877
59MP0002998_abnormal_bone_remodeling0.89715856
60MP0000432_abnormal_head_morphology0.88155855
61MP0002249_abnormal_larynx_morphology0.88041022
62MP0003935_abnormal_craniofacial_develop0.87563384
63MP0003941_abnormal_skin_development0.87205113
64MP0005197_abnormal_uvea_morphology0.86485864
65MP0010368_abnormal_lymphatic_system0.86227575
66MP0002109_abnormal_limb_morphology0.85466265
67MP0002116_abnormal_craniofacial_bone0.85279820
68MP0002128_abnormal_blood_circulation0.83170077
69MP0002089_abnormal_postnatal_growth/wei0.82541230
70MP0000759_abnormal_skeletal_muscle0.82203553
71MP0000762_abnormal_tongue_morphology0.81009890
72MP0002233_abnormal_nose_morphology0.80560703
73MP0003937_abnormal_limbs/digits/tail_de0.78976592
74MP0005171_absent_coat_pigmentation0.77045209
75MP0002111_abnormal_tail_morphology0.76534503
76MP0004087_abnormal_muscle_fiber0.75625965
77* MP0001614_abnormal_blood_vessel0.75395689
78MP0000462_abnormal_digestive_system0.75080322
79MP0002114_abnormal_axial_skeleton0.73287979
80MP0010386_abnormal_urinary_bladder0.71650183
81MP0003795_abnormal_bone_structure0.70471216
82MP0005409_darkened_coat_color0.69965979
83MP0001915_intracranial_hemorrhage0.69429395
84MP0002925_abnormal_cardiovascular_devel0.68705682
85MP0001175_abnormal_lung_morphology0.67340893
86MP0005193_abnormal_anterior_eye0.67288490
87MP0005375_adipose_tissue_phenotype0.66385587
88MP0005595_abnormal_vascular_smooth0.65523284
89MP0000749_muscle_degeneration0.65078467
90MP0002697_abnormal_eye_size0.64499770
91MP0004084_abnormal_cardiac_muscle0.64454446
92MP0005369_muscle_phenotype0.64015644
93MP0000537_abnormal_urethra_morphology0.60850076
94MP0002177_abnormal_outer_ear0.60305664
95MP0002133_abnormal_respiratory_system0.59427710
96MP0005388_respiratory_system_phenotype0.59427710
97MP0006138_congestive_heart_failure0.59359086
98MP0001533_abnormal_skeleton_physiology0.58932937
99MP0004233_abnormal_muscle_weight0.58811508
100MP0003448_altered_tumor_morphology0.57583155
101MP0003300_gastrointestinal_ulcer0.57386254
102MP0000467_abnormal_esophagus_morphology0.56828902
103MP0004197_abnormal_fetal_growth/weight/0.55823040
104MP0001849_ear_inflammation0.55680741
105MP0005367_renal/urinary_system_phenotyp0.55517507
106MP0000516_abnormal_urinary_system0.55517507
107MP0005164_abnormal_response_to0.54978764
108MP0005330_cardiomyopathy0.54817050
109MP0004185_abnormal_adipocyte_glucose0.54147240
110MP0001177_atelectasis0.52528677
111MP0000538_abnormal_urinary_bladder0.50268317
112MP0002092_abnormal_eye_morphology0.49638114
113* MP0010771_integument_phenotype0.47886131

Predicted human phenotypes

RankGene SetZ-score
1Protrusio acetabuli (HP:0003179)9.23497609
2* Premature rupture of membranes (HP:0001788)8.10526530
3Ankle contracture (HP:0006466)5.80189536
4Shallow orbits (HP:0000586)5.15260921
5* Aortic dissection (HP:0002647)4.88690700
6* Atrophic scars (HP:0001075)4.88133102
7* Soft skin (HP:0000977)4.62215304
8Type 1 muscle fiber predominance (HP:0003803)4.48369660
9Abnormality of dentin (HP:0010299)4.42432442
10Follicular hyperkeratosis (HP:0007502)4.39072123
11Broad metatarsal (HP:0001783)4.38682457
12Cerebral aneurysm (HP:0004944)4.30840835
13* Fragile skin (HP:0001030)4.23159208
14* Peritonitis (HP:0002586)4.15467446
15* Bladder diverticulum (HP:0000015)4.15130308
16Neonatal short-limb short stature (HP:0008921)3.95102445
17* Dilatation of the ascending aorta (HP:0005111)3.91205305
18Aortic aneurysm (HP:0004942)3.74465730
19Increased connective tissue (HP:0009025)3.74208765
20Slender build (HP:0001533)3.67940984
21Biconcave vertebral bodies (HP:0004586)3.66926470
22Spinal rigidity (HP:0003306)3.66720814
23* Genu recurvatum (HP:0002816)3.58156892
24* Mitral valve prolapse (HP:0001634)3.57351546
25Wormian bones (HP:0002645)3.46787650
26* Blue sclerae (HP:0000592)3.30888989
27Cervical subluxation (HP:0003308)3.23812728
28Wrist flexion contracture (HP:0001239)3.23667020
29Vertebral compression fractures (HP:0002953)3.21537078
30Mildly elevated creatine phosphokinase (HP:0008180)3.20244215
31Increased variability in muscle fiber diameter (HP:0003557)3.11270463
32* Bowel diverticulosis (HP:0005222)2.78791901
33* Hyperextensible skin (HP:0000974)2.78528889
34Overgrowth (HP:0001548)2.72289178
35Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.71711663
36Short 4th metacarpal (HP:0010044)2.71711663
37Abnormality of skeletal muscle fiber size (HP:0012084)2.70254608
38Elbow flexion contracture (HP:0002987)2.69156539
39Breech presentation (HP:0001623)2.64877915
40Wide anterior fontanel (HP:0000260)2.59466203
41Abnormality of the acetabulum (HP:0003170)2.57620199
42Nonimmune hydrops fetalis (HP:0001790)2.57240792
43* Abnormal delivery (HP:0001787)2.48762319
44Thin bony cortex (HP:0002753)2.45961598
45Mitral regurgitation (HP:0001653)2.44503920
46* Joint laxity (HP:0001388)2.43944955
47Calcaneovalgus deformity (HP:0001848)2.38307842
48Aneurysm (HP:0002617)2.37974283
49Osteolytic defects of the phalanges of the hand (HP:0009771)2.33166864
50Osteolytic defects of the hand bones (HP:0009699)2.33166864
51Deformed tarsal bones (HP:0008119)2.31924043
52Camptodactyly of toe (HP:0001836)2.31689192
53Vascular tortuosity (HP:0004948)2.31517115
54Round ear (HP:0100830)2.31213072
55* Deviation of the hallux (HP:0010051)2.30840482
56* Ectopia lentis (HP:0001083)2.26060523
57Mesomelia (HP:0003027)2.26011555
58Broad ribs (HP:0000885)2.25860364
59Abnormality of the 4th metacarpal (HP:0010012)2.25371753
60Morphological abnormality of the middle ear (HP:0008609)2.23793875
61Buphthalmos (HP:0000557)2.22210686
62* Hallux valgus (HP:0001822)2.21619727
63Tibial bowing (HP:0002982)2.21578423
64Absent frontal sinuses (HP:0002688)2.17920446
65Striae distensae (HP:0001065)2.14411949
66Aortic valve stenosis (HP:0001650)2.13879769
67Mild short stature (HP:0003502)2.11890160
68Mitral stenosis (HP:0001718)2.10610209
69Ulnar bowing (HP:0003031)2.10387189
70Aortic regurgitation (HP:0001659)2.09461635
71Generalized amyotrophy (HP:0003700)2.06597145
72* Infantile muscular hypotonia (HP:0008947)2.05268123
73Joint stiffness (HP:0001387)2.04719870
74Hypoplasia of the iris (HP:0007676)2.04141990
75Broad long bones (HP:0005622)2.04089686
76Abnormality of the calcaneus (HP:0008364)2.02790193
77Hypoventilation (HP:0002791)1.98186829
78* Osteoarthritis (HP:0002758)1.98177360
79Spondylolisthesis (HP:0003302)1.97095867
80Femoral bowing (HP:0002980)1.96453340
81Congenital glaucoma (HP:0001087)1.96241599
82Coronal craniosynostosis (HP:0004440)1.96050314
83Arterial tortuosity (HP:0005116)1.95406510
84Alopecia of scalp (HP:0002293)1.92784618
85Ulnar deviation of the wrist (HP:0003049)1.91271612
86Abnormality of skull ossification (HP:0002703)1.90824504
87Premature skin wrinkling (HP:0100678)1.90129932
88Disproportionate tall stature (HP:0001519)1.89168765
89* Venous abnormality (HP:0002624)1.88740945
90Flat cornea (HP:0007720)1.87905011
91Protruding ear (HP:0000411)1.87364251
92Decreased skull ossification (HP:0004331)1.85927429
93Bell-shaped thorax (HP:0001591)1.85431291
94Limb-girdle muscle weakness (HP:0003325)1.84526385
95* Abnormality of the peritoneum (HP:0002585)1.82938297
96Knee flexion contracture (HP:0006380)1.82823669
97* Venous insufficiency (HP:0005293)1.82731868
98Joint contractures involving the joints of the feet (HP:0100492)1.81138429
99Flexion contracture of toe (HP:0005830)1.81138429
100Short nail (HP:0001799)1.80375838
101Coxa vara (HP:0002812)1.80356075
102Renovascular hypertension (HP:0100817)1.80063930
103Bowed forearm bones (HP:0003956)1.79274602
104Bowing of the arm (HP:0006488)1.79274602
105Achilles tendon contracture (HP:0001771)1.78676445
106Thin ribs (HP:0000883)1.78539161
107Limited hip movement (HP:0008800)1.77475326
108Slender long bone (HP:0003100)1.76506379
109Upper limb amyotrophy (HP:0009129)1.75110584
110Distal upper limb amyotrophy (HP:0007149)1.75110584
111Hip contracture (HP:0003273)1.74394805
112Increased corneal curvature (HP:0100692)1.73876727
113Keratoconus (HP:0000563)1.73876727
114Osteopenia (HP:0000938)1.73032040
115Arachnodactyly (HP:0001166)1.72220304
116Renal duplication (HP:0000075)1.72152456
117Spinal cord lesions (HP:0100561)1.71922235
118Syringomyelia (HP:0003396)1.71922235
119* Inguinal hernia (HP:0000023)1.71670712
120Natal tooth (HP:0000695)1.71288572
121Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.70747274
122Cupped ribs (HP:0000887)1.70246285

Predicted kinase interactions (KEA)

RankGene SetZ-score
1DDR24.82825172
2TRIB34.76608902
3TTN4.31192898
4PDGFRA3.81361302
5LATS23.54734604
6PKN23.27328401
7LATS13.07585264
8ERN12.90777362
9SIK12.69212466
10RIPK12.40996856
11EPHB22.22981486
12PAK22.09920973
13BMX1.81632919
14PTK21.75806774
15EPHA31.68039792
16FER1.61643874
17MAP3K101.61037359
18DMPK1.49201233
19PAK41.48403149
20PAK31.45998758
21PTK61.44536605
22STK381.41164571
23TRPM71.35950480
24TGFBR21.31053808
25FGFR11.30443801
26EEF2K1.27879185
27MTOR1.25989391
28MOS1.25824577
29PDGFRB1.25211852
30PTK2B1.24829292
31STK31.21229769
32RPS6KA21.16676219
33LRRK21.14101623
34MAP3K61.12989359
35MET1.10235989
36ILK1.04624385
37MYLK1.03988115
38CDK121.03701287
39PIK3CA1.01958463
40RPS6KA40.99875405
41ROCK10.99296401
42SMG10.96456646
43TESK10.96291281
44AKT30.94560198
45MAPK70.93176599
46TIE10.90207448
47NTRK10.88657827
48PIK3CG0.84828191
49LIMK10.84589227
50PIM20.81954998
51NEK90.81353235
52CAMK1D0.79181569
53EPHB10.77654416
54FLT30.77074624
55PRKD20.76456764
56ERBB40.73840109
57CLK10.73165154
58FGFR20.72438312
59ICK0.70299380
60PRKD10.67747822
61PRKD30.67725405
62PRPF4B0.67408221
63RET0.67379315
64ROCK20.65461817
65INSR0.63356831
66PAK10.62870591
67MAP2K10.62858966
68FGFR40.60538406
69EPHA20.60330527
70CDC42BPA0.59830927
71MST1R0.59706436
72PRKCH0.59007578
73DAPK30.58651042
74RPS6KL10.58457577
75RPS6KC10.58457577
76CDK60.56363743
77SCYL20.56357136
78STK38L0.53359225
79CAMK1G0.52897326
80ABL20.52815775
81MELK0.51658103
82DYRK1B0.49560916
83MARK10.49414952
84KIT0.48837171
85GSK3A0.48085258
86ADRBK10.46712786
87WNK10.46207212
88TAOK10.46033029
89PAK60.45766879
90FRK0.45617880
91SRC0.43758683
92PRKG20.43138151
93TYRO30.42722469
94PLK20.41860817
95MAP3K30.39634684
96RPS6KA60.39085417
97JAK10.38690284
98CAMKK10.38200267
99CAMK2G0.37853755
100MAP3K80.37235733
101MARK20.36932864
102MAPK10.35246322
103FGFR30.35134392
104ARAF0.35110327
105ERBB20.31092851
106CDK140.30501016
107CDK90.30392763
108CDK150.29665245
109TAOK20.29401871
110LMTK20.29250390
111TGFBR10.28337241
112CDK80.27468136
113KSR20.26849118
114STK100.26601223
115CDK70.25439084
116MAP2K30.24912206
117MAPKAPK30.24431232
118TESK20.24345608
119CDK180.23649758
120MAP3K70.23305954
121CDK11A0.23138689
122CSF1R0.23134616
123MAPKAPK20.22490917

Predicted pathways (KEGG)

RankGene SetZ-score
1ECM-receptor interaction_Homo sapiens_hsa045125.39799678
2Focal adhesion_Homo sapiens_hsa045103.54434247
3* Protein digestion and absorption_Homo sapiens_hsa049743.35571629
4Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.71578179
5Amoebiasis_Homo sapiens_hsa051462.57126089
6Proteoglycans in cancer_Homo sapiens_hsa052052.50317295
7AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049332.34936200
8Basal cell carcinoma_Homo sapiens_hsa052172.33661811
9Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.23169083
10Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054102.22514166
11Dilated cardiomyopathy_Homo sapiens_hsa054142.21560712
12Bladder cancer_Homo sapiens_hsa052192.20801292
13Malaria_Homo sapiens_hsa051442.04419507
14Hedgehog signaling pathway_Homo sapiens_hsa043402.03745885
15Adherens junction_Homo sapiens_hsa045202.01838097
16Small cell lung cancer_Homo sapiens_hsa052221.99587310
17Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.96766502
18Hippo signaling pathway_Homo sapiens_hsa043901.90397364
19MicroRNAs in cancer_Homo sapiens_hsa052061.89183983
20TGF-beta signaling pathway_Homo sapiens_hsa043501.86580484
21PI3K-Akt signaling pathway_Homo sapiens_hsa041511.84933477
22Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.69632159
23Chronic myeloid leukemia_Homo sapiens_hsa052201.52750880
24Melanoma_Homo sapiens_hsa052181.43739141
25Regulation of actin cytoskeleton_Homo sapiens_hsa048101.41599735
26p53 signaling pathway_Homo sapiens_hsa041151.29523746
27Viral myocarditis_Homo sapiens_hsa054161.20505509
28Pathways in cancer_Homo sapiens_hsa052001.19353539
29Platelet activation_Homo sapiens_hsa046111.19289820
30Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.18894906
31Glioma_Homo sapiens_hsa052141.17209762
32Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.15414166
33Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.15384060
34Wnt signaling pathway_Homo sapiens_hsa043101.13875170
35Leukocyte transendothelial migration_Homo sapiens_hsa046701.13718059
36Prostate cancer_Homo sapiens_hsa052151.06403614
37Axon guidance_Homo sapiens_hsa043601.05302087
38Central carbon metabolism in cancer_Homo sapiens_hsa052301.03570213
39Pancreatic cancer_Homo sapiens_hsa052121.03548975
40Rap1 signaling pathway_Homo sapiens_hsa040151.01909875
41Other glycan degradation_Homo sapiens_hsa005111.01079743
42Tight junction_Homo sapiens_hsa045301.00725213
43Shigellosis_Homo sapiens_hsa051310.99048168
44HTLV-I infection_Homo sapiens_hsa051660.98851318
45Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.95002339
46Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.93037711
47Melanogenesis_Homo sapiens_hsa049160.92479840
48Toxoplasmosis_Homo sapiens_hsa051450.90720310
49Notch signaling pathway_Homo sapiens_hsa043300.82832730
50Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.82529023
51mTOR signaling pathway_Homo sapiens_hsa041500.81741953
52TNF signaling pathway_Homo sapiens_hsa046680.79133551
53Colorectal cancer_Homo sapiens_hsa052100.77478466
54HIF-1 signaling pathway_Homo sapiens_hsa040660.74878559
55Renal cell carcinoma_Homo sapiens_hsa052110.72480337
56Estrogen signaling pathway_Homo sapiens_hsa049150.71062328
57Longevity regulating pathway - mammal_Homo sapiens_hsa042110.70638171
58Vibrio cholerae infection_Homo sapiens_hsa051100.68262421
59Gap junction_Homo sapiens_hsa045400.66546591
60Endometrial cancer_Homo sapiens_hsa052130.65555031
61Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.64660773
62Phagosome_Homo sapiens_hsa041450.64459091
63Insulin resistance_Homo sapiens_hsa049310.63539680
64Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.62771362
65AMPK signaling pathway_Homo sapiens_hsa041520.62453402
66Viral carcinogenesis_Homo sapiens_hsa052030.61574771
67Ovarian steroidogenesis_Homo sapiens_hsa049130.59777352
68GnRH signaling pathway_Homo sapiens_hsa049120.59080381
69Hepatitis B_Homo sapiens_hsa051610.58614635
70Neurotrophin signaling pathway_Homo sapiens_hsa047220.58395908
71Phospholipase D signaling pathway_Homo sapiens_hsa040720.58008161
72Vascular smooth muscle contraction_Homo sapiens_hsa042700.57555288
73VEGF signaling pathway_Homo sapiens_hsa043700.57059109
74Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.56590980
75Galactose metabolism_Homo sapiens_hsa000520.56282597
76Thyroid hormone signaling pathway_Homo sapiens_hsa049190.55953093
77Cocaine addiction_Homo sapiens_hsa050300.55574449
78Salmonella infection_Homo sapiens_hsa051320.55024625
79Apoptosis_Homo sapiens_hsa042100.53127617
80Adipocytokine signaling pathway_Homo sapiens_hsa049200.50725844
81Aldosterone synthesis and secretion_Homo sapiens_hsa049250.50695001
82Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.50422427
83Thyroid cancer_Homo sapiens_hsa052160.50236001
84Choline metabolism in cancer_Homo sapiens_hsa052310.50192319
85Dorso-ventral axis formation_Homo sapiens_hsa043200.49784447
86Lysine degradation_Homo sapiens_hsa003100.49724835
87Renin secretion_Homo sapiens_hsa049240.49688221
88Ras signaling pathway_Homo sapiens_hsa040140.49443483
89cGMP-PKG signaling pathway_Homo sapiens_hsa040220.48970104
90Non-small cell lung cancer_Homo sapiens_hsa052230.48599194
91Endocytosis_Homo sapiens_hsa041440.48342036
92Renin-angiotensin system_Homo sapiens_hsa046140.47902751
93FoxO signaling pathway_Homo sapiens_hsa040680.46479592
94Acute myeloid leukemia_Homo sapiens_hsa052210.45758198
95Insulin signaling pathway_Homo sapiens_hsa049100.45728117
96Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.44427674
97N-Glycan biosynthesis_Homo sapiens_hsa005100.43839198
98Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.43782768
99Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.40832843
100Lysosome_Homo sapiens_hsa041420.40449377
101cAMP signaling pathway_Homo sapiens_hsa040240.40398315
102Complement and coagulation cascades_Homo sapiens_hsa046100.40172240
103Prolactin signaling pathway_Homo sapiens_hsa049170.39651439
104MAPK signaling pathway_Homo sapiens_hsa040100.39239905
105ErbB signaling pathway_Homo sapiens_hsa040120.39110281
106Thyroid hormone synthesis_Homo sapiens_hsa049180.38951426
107Glycosaminoglycan degradation_Homo sapiens_hsa005310.38277234
108Pentose phosphate pathway_Homo sapiens_hsa000300.38013666
109Cell cycle_Homo sapiens_hsa041100.33566390
110Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.32249352
111Prion diseases_Homo sapiens_hsa050200.31394570
112Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.25999932
113Oxytocin signaling pathway_Homo sapiens_hsa049210.25843102
114Glucagon signaling pathway_Homo sapiens_hsa049220.25329765
115Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.25307591

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