TP53I3

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: The protein encoded by this gene is similar to oxidoreductases, which are enzymes involved in cellular responses to oxidative stresses and irradiation. This gene is induced by the tumor suppressor p53 and is thought to be involved in p53-mediated cell death. It contains a p53 consensus binding site in its promoter region and a downstream pentanucleotide microsatellite sequence. P53 has been shown to transcriptionally activate this gene by interacting with the downstream pentanucleotide microsatellite sequence. The microsatellite is polymorphic, with a varying number of pentanucleotide repeats directly correlated with the extent of transcriptional activation by p53. It has been suggested that the microsatellite polymorphism may be associated with differential susceptibility to cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1hemidesmosome assembly (GO:0031581)5.75251881
2Golgi transport vesicle coating (GO:0048200)5.46661252
3COPI coating of Golgi vesicle (GO:0048205)5.46661252
4desmosome organization (GO:0002934)5.15639443
5bundle of His cell to Purkinje myocyte communication (GO:0086069)4.17369919
6protein retention in ER lumen (GO:0006621)4.04840864
7epithelial cell-cell adhesion (GO:0090136)3.96268498
8maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.84519022
9negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)3.72252923
10cell adhesion mediated by integrin (GO:0033627)3.59959031
11regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)3.53066265
12regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.48880272
13protein maturation by protein folding (GO:0022417)3.48819832
14retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)3.46530534
15proline biosynthetic process (GO:0006561)3.40029199
16endodermal cell differentiation (GO:0035987)3.39542163
17negative regulation of chondrocyte differentiation (GO:0032331)3.37974088
18gap junction assembly (GO:0016264)3.36336899
19dichotomous subdivision of an epithelial terminal unit (GO:0060600)3.34181224
20barbed-end actin filament capping (GO:0051016)3.32786622
21cell-substrate junction assembly (GO:0007044)3.29435017
22branching involved in mammary gland duct morphogenesis (GO:0060444)3.25895957
23skin morphogenesis (GO:0043589)3.17433373
24regulation of cardioblast differentiation (GO:0051890)3.14686824
25mammary gland epithelial cell differentiation (GO:0060644)3.10078848
26protein localization to endosome (GO:0036010)3.01931065
27peptidyl-proline hydroxylation (GO:0019511)2.99885061
28cellular response to vitamin D (GO:0071305)2.92048538
29basement membrane organization (GO:0071711)2.90658241
30planar cell polarity pathway involved in neural tube closure (GO:0090179)2.89214116
31positive regulation of Cdc42 GTPase activity (GO:0043089)2.87292015
32type B pancreatic cell proliferation (GO:0044342)2.86692437
33amyloid precursor protein catabolic process (GO:0042987)2.82946473
34embryo implantation (GO:0007566)2.79774876
35actin filament depolymerization (GO:0030042)2.77339457
36regulation of water loss via skin (GO:0033561)2.72964892
37regulation of apoptotic process involved in morphogenesis (GO:1902337)2.70304842
38cellular response to vitamin (GO:0071295)2.68919648
39nucleobase-containing small molecule interconversion (GO:0015949)2.68160068
40negative regulation of release of cytochrome c from mitochondria (GO:0090201)2.67826179
41neuron projection extension involved in neuron projection guidance (GO:1902284)2.64727319
42axon extension involved in axon guidance (GO:0048846)2.64727319
43negative regulation of keratinocyte proliferation (GO:0010839)2.64461185
44positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)2.63006256
45fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)2.60781293
46negative regulation of stem cell proliferation (GO:2000647)2.60754201
47protein hydroxylation (GO:0018126)2.60697182
48nucleotide-sugar biosynthetic process (GO:0009226)2.60207209
49regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)2.59384766
50Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.57861087
51wound healing, spreading of epidermal cells (GO:0035313)2.56718383
52primary alcohol catabolic process (GO:0034310)2.56245589
534-hydroxyproline metabolic process (GO:0019471)2.55738257
54regulation of mammary gland epithelial cell proliferation (GO:0033599)2.55702880
55membrane protein ectodomain proteolysis (GO:0006509)2.53617724
56endothelial cell chemotaxis (GO:0035767)2.52883503
57atrioventricular valve morphogenesis (GO:0003181)2.51875884
58sequestering of extracellular ligand from receptor (GO:0035581)2.49874855
59negative regulation of cartilage development (GO:0061037)2.49794089
60endoplasmic reticulum calcium ion homeostasis (GO:0032469)2.49186838
61mammary gland alveolus development (GO:0060749)2.48496707
62regulation of metalloenzyme activity (GO:0048552)2.47311008
63cytoskeletal anchoring at plasma membrane (GO:0007016)2.45452903
64daunorubicin metabolic process (GO:0044597)2.44716407
65polyketide metabolic process (GO:0030638)2.44716407
66doxorubicin metabolic process (GO:0044598)2.44716407
67adherens junction assembly (GO:0034333)2.44209092
68endothelial cell morphogenesis (GO:0001886)2.42823864
69GDP-mannose metabolic process (GO:0019673)2.42333886
70regulation of establishment of planar polarity (GO:0090175)2.41067267
71wound healing, spreading of cells (GO:0044319)2.40203599
72negative regulation of cell fate specification (GO:0009996)2.38623330
73activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)2.37983160
74tight junction assembly (GO:0070830)2.37965987
75heparan sulfate proteoglycan biosynthetic process (GO:0015012)2.36464981
76glutamine family amino acid biosynthetic process (GO:0009084)2.34104709
77substrate-dependent cell migration (GO:0006929)2.30014971
78pinocytosis (GO:0006907)2.29858050
79ventricular cardiac muscle cell development (GO:0055015)2.29802338
80vesicle coating (GO:0006901)2.29376022
81proline metabolic process (GO:0006560)2.27593901
82urea cycle (GO:0000050)2.27104352
83COPII vesicle coating (GO:0048208)2.26914102
84endocardial cushion development (GO:0003197)2.26700392
85virion assembly (GO:0019068)2.26627311
86cyclooxygenase pathway (GO:0019371)2.26183558
87activation of Rac GTPase activity (GO:0032863)2.25367111
88cell-substrate adherens junction assembly (GO:0007045)2.24536769
89focal adhesion assembly (GO:0048041)2.24536769
90extracellular matrix disassembly (GO:0022617)2.24344806
91cell-cell junction assembly (GO:0007043)2.23663699
92vascular endothelial growth factor signaling pathway (GO:0038084)2.23500654
93cell junction assembly (GO:0034329)2.23490970
94establishment of skin barrier (GO:0061436)2.23453857
95nuclear envelope reassembly (GO:0031468)2.23301715
96mitotic nuclear envelope reassembly (GO:0007084)2.23301715
97regulation of hippo signaling (GO:0035330)2.23105371
98renal system process involved in regulation of blood volume (GO:0001977)2.18976442
99negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)2.17847792
100regulation of plasminogen activation (GO:0010755)2.17598270

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human8.18171818
2TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat3.94654608
3RARG_19884340_ChIP-ChIP_MEFs_Mouse3.36292677
4TRIM28_21343339_ChIP-Seq_HEK293_Human3.31627586
5TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse3.08971947
6SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.75301179
7ZNF263_19887448_ChIP-Seq_K562_Human2.27502943
8ESR2_21235772_ChIP-Seq_MCF-7_Human2.24604728
9PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.20394577
10ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.20077399
11ESR1_20079471_ChIP-ChIP_T-47D_Human2.18172217
12RACK7_27058665_Chip-Seq_MCF-7_Human2.12069650
13ELK3_25401928_ChIP-Seq_HUVEC_Human2.09651835
14KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human2.00866562
15CLOCK_20551151_ChIP-Seq_293T_Human1.99678998
16SRY_22984422_ChIP-ChIP_TESTIS_Rat1.95646270
17POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.94692067
18ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.94161399
19PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.92706831
20EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.90688289
21ESR1_21235772_ChIP-Seq_MCF-7_Human1.90484119
22KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.79918002
23ESR1_15608294_ChIP-ChIP_MCF-7_Human1.74548965
24HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.72776533
25LXR_22292898_ChIP-Seq_THP-1_Human1.72255487
26RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.67645560
27ATF3_27146783_Chip-Seq_COLON_Human1.67290639
28TP53_22127205_ChIP-Seq_IMR90_Human1.67177267
29SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.65716725
30SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.65716725
31STAT6_21828071_ChIP-Seq_BEAS2B_Human1.62509601
32* P63_26484246_Chip-Seq_KERATINOCYTES_Human1.61022268
33TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.60741591
34KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.59012446
35DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.58950055
36NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.56104364
37UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.54298035
38SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.53222818
39TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.47855261
40HIF1A_21447827_ChIP-Seq_MCF-7_Human1.47654094
41MYC_18555785_ChIP-Seq_MESCs_Mouse1.46541306
42P300_27058665_Chip-Seq_ZR-75-30cells_Human1.42362092
43TET1_21451524_ChIP-Seq_MESCs_Mouse1.41497642
44KLF4_18555785_ChIP-Seq_MESCs_Mouse1.34582203
45JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.31841721
46NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.29439734
47ZFX_18555785_ChIP-Seq_MESCs_Mouse1.28466163
48RXR_22158963_ChIP-Seq_LIVER_Mouse1.26666323
49CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.25620841
50ERG_21242973_ChIP-ChIP_JURKAT_Human1.24984206
51NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.24512202
52E2F1_18555785_ChIP-Seq_MESCs_Mouse1.23732960
53UBF1/2_26484160_Chip-Seq_HMECs_Human1.23296889
54NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.22822257
55AR_21909140_ChIP-Seq_LNCAP_Human1.22612412
56CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.22252994
57ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.22082262
58SOX2_20726797_ChIP-Seq_SW620_Human1.21197042
59MYC_18358816_ChIP-ChIP_MESCs_Mouse1.20471038
60HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.20417066
61SOX2_27498859_Chip-Seq_STOMACH_Mouse1.17309215
62ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.16781203
63THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.16684793
64NELFA_20434984_ChIP-Seq_ESCs_Mouse1.15218410
65TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.15179456
66CTCF_18555785_ChIP-Seq_MESCs_Mouse1.14678896
67EOMES_20176728_ChIP-ChIP_TSCs_Mouse1.14401605
68TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.14274057
69PPARA_22158963_ChIP-Seq_LIVER_Mouse1.13690699
70OCT4_18692474_ChIP-Seq_MEFs_Mouse1.12542778
71ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.12240988
72TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.10868536
73GATA6_25053715_ChIP-Seq_YYC3_Human1.09951248
74HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.08509562
75MYC_19079543_ChIP-ChIP_MESCs_Mouse1.08354713
76ELF5_23300383_ChIP-Seq_T47D_Human1.06296348
77CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.04843485
78* RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.04837464
79ZFP281_18757296_ChIP-ChIP_E14_Mouse1.01544717
80EOMES_21245162_ChIP-Seq_HESCs_Human1.01481684
81PPAR_26484153_Chip-Seq_NCI-H1993_Human1.01195925
82TCF3_18692474_ChIP-Seq_MEFs_Mouse1.00312524
83SOX2_18692474_ChIP-Seq_MEFs_Mouse0.99834240
84WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.99523031
85CDX2_20551321_ChIP-Seq_CACO-2_Human0.99095680
86XRN2_22483619_ChIP-Seq_HELA_Human0.97581468
87NANOG_18555785_ChIP-Seq_MESCs_Mouse0.97306854
88TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse0.95649544
89DCP1A_22483619_ChIP-Seq_HELA_Human0.94371210
90TBX5_21415370_ChIP-Seq_HL-1_Mouse0.93044922
91SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.92916682
92SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.92841026
93CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.91991071
94SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.90005899
95GATA3_24758297_ChIP-Seq_MCF-7_Human0.89800134
96MYC_19030024_ChIP-ChIP_MESCs_Mouse0.89792728
97ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.89108986
98SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.88121864
99RUNX1_27514584_Chip-Seq_MCF-7_Human0.87070099
100ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.86944021

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0010234_abnormal_vibrissa_follicle4.52991772
2MP0002254_reproductive_system_inflammat3.80871109
3MP0003941_abnormal_skin_development3.66573530
4MP0003705_abnormal_hypodermis_morpholog3.50076933
5MP0008438_abnormal_cutaneous_collagen3.05901931
6MP0004272_abnormal_basement_membrane2.96165979
7MP0003566_abnormal_cell_adhesion2.71072175
8MP0002796_impaired_skin_barrier2.63726479
9MP0010030_abnormal_orbit_morphology2.41684564
10MP0009379_abnormal_foot_pigmentation2.34922674
11MP0000537_abnormal_urethra_morphology2.26815508
12MP0005501_abnormal_skin_physiology2.26038940
13MP0005248_abnormal_Harderian_gland2.24930926
14MP0001849_ear_inflammation2.21668886
15MP0003191_abnormal_cellular_cholesterol2.20179219
16MP0000579_abnormal_nail_morphology2.12232453
17MP0000762_abnormal_tongue_morphology2.08736679
18MP0005360_urolithiasis2.07477137
19MP0004264_abnormal_extraembryonic_tissu2.07306522
20MP0005257_abnormal_intraocular_pressure2.00329028
21MP0005275_abnormal_skin_tensile1.96396104
22MP0005058_abnormal_lysosome_morphology1.87139720
23MP0002060_abnormal_skin_morphology1.87101834
24MP0009384_cardiac_valve_regurgitation1.77615752
25MP0009053_abnormal_anal_canal1.77572531
26MP0005083_abnormal_biliary_tract1.72601983
27MP0010368_abnormal_lymphatic_system1.72199320
28MP0006054_spinal_hemorrhage1.71143994
29MP0003279_aneurysm1.68862626
30MP0005023_abnormal_wound_healing1.57636200
31MP0004233_abnormal_muscle_weight1.56154464
32MP0002139_abnormal_hepatobiliary_system1.52684981
33MP0010352_gastrointestinal_tract_polyps1.52019588
34MP0009840_abnormal_foam_cell1.47273301
35MP0000467_abnormal_esophagus_morphology1.47184005
36MP0003453_abnormal_keratinocyte_physiol1.41011596
37MP0001216_abnormal_epidermal_layer1.38559601
38MP0001666_abnormal_nutrient_absorption1.38356351
39MP0002098_abnormal_vibrissa_morphology1.36166410
40MP0000767_abnormal_smooth_muscle1.35563552
41MP0004782_abnormal_surfactant_physiolog1.35132188
42MP0001346_abnormal_lacrimal_gland1.34000534
43MP0003315_abnormal_perineum_morphology1.33582643
44MP0001881_abnormal_mammary_gland1.31529726
45MP0002896_abnormal_bone_mineralization1.31474587
46MP0005451_abnormal_body_composition1.26214383
47MP0005623_abnormal_meninges_morphology1.26167439
48MP0002877_abnormal_melanocyte_morpholog1.25056905
49MP0000627_abnormal_mammary_gland1.23322429
50MP0001542_abnormal_bone_strength1.19520799
51MP0000678_abnormal_parathyroid_gland1.18251217
52MP0000858_altered_metastatic_potential1.17074562
53MP0001243_abnormal_dermal_layer1.11362930
54MP0003091_abnormal_cell_migration1.07630834
55MP0010771_integument_phenotype1.04564419
56MP0001879_abnormal_lymphatic_vessel1.04100140
57MP0005085_abnormal_gallbladder_physiolo1.02596464
58MP0003806_abnormal_nucleotide_metabolis1.01003541
59MP0008260_abnormal_autophagy1.00644874
60MP0001958_emphysema0.99218164
61MP0002234_abnormal_pharynx_morphology0.97223871
62MP0000377_abnormal_hair_follicle0.96951492
63MP0002282_abnormal_trachea_morphology0.94571153
64MP0001661_extended_life_span0.94121017
65MP0004858_abnormal_nervous_system0.93985695
66MP0010678_abnormal_skin_adnexa0.93407326
67MP0000490_abnormal_crypts_of0.93405030
68MP0003950_abnormal_plasma_membrane0.92392100
69MP0003186_abnormal_redox_activity0.91545447
70MP0004019_abnormal_vitamin_homeostasis0.90819774
71MP0005193_abnormal_anterior_eye0.89954364
72MP0005165_increased_susceptibility_to0.88064319
73MP0002697_abnormal_eye_size0.86048727
74MP0005408_hypopigmentation0.85612323
75MP0000538_abnormal_urinary_bladder0.84217403
76MP0005197_abnormal_uvea_morphology0.83444181
77MP0003385_abnormal_body_wall0.83428883
78MP0000462_abnormal_digestive_system0.83343960
79MP0002089_abnormal_postnatal_growth/wei0.82313242
80MP0005508_abnormal_skeleton_morphology0.80697154
81MP0005409_darkened_coat_color0.76999036
82MP0000681_abnormal_thyroid_gland0.76405512
83MP0008932_abnormal_embryonic_tissue0.74394728
84MP0003300_gastrointestinal_ulcer0.73447548
85MP0000733_abnormal_muscle_development0.72547404
86MP0003755_abnormal_palate_morphology0.70257875
87MP0009931_abnormal_skin_appearance0.69966190
88MP0002092_abnormal_eye_morphology0.68719121
89MP0001727_abnormal_embryo_implantation0.67357355
90MP0001915_intracranial_hemorrhage0.67348313
91MP0004957_abnormal_blastocyst_morpholog0.67154179
92MP0002233_abnormal_nose_morphology0.66178163
93MP0003942_abnormal_urinary_system0.65021505
94MP0003123_paternal_imprinting0.64279160
95MP0000427_abnormal_hair_cycle0.64144614
96MP0003448_altered_tumor_morphology0.62784149
97MP0008789_abnormal_olfactory_epithelium0.62087997
98MP0000534_abnormal_ureter_morphology0.61883286
99MP0009643_abnormal_urine_homeostasis0.60898317
100MP0004185_abnormal_adipocyte_glucose0.60051748

Predicted human phenotypes

RankGene SetZ-score
1Premature rupture of membranes (HP:0001788)5.11826005
2Atrophic scars (HP:0001075)4.39395346
3Protrusio acetabuli (HP:0003179)3.85761710
4Right ventricular cardiomyopathy (HP:0011663)3.61992923
5Flat acetabular roof (HP:0003180)3.50417937
6Abnormality of nail color (HP:0100643)3.46609378
7Cervical subluxation (HP:0003308)3.45495636
8Fragile skin (HP:0001030)3.28260333
9Abnormality of the distal phalanges of the toes (HP:0010182)3.27998276
10Short nail (HP:0001799)3.20407239
11Vertebral compression fractures (HP:0002953)3.11766065
12Pili torti (HP:0003777)3.03160277
13Distal lower limb muscle weakness (HP:0009053)3.01079690
14Fragile nails (HP:0001808)2.99832313
15Thin bony cortex (HP:0002753)2.99675615
16Abnormality of carpal bone ossification (HP:0006257)2.73972115
17Entropion (HP:0000621)2.67829360
18Osteolytic defects of the phalanges of the hand (HP:0009771)2.58722494
19Osteolytic defects of the hand bones (HP:0009699)2.58722494
20Blue sclerae (HP:0000592)2.57023590
21Pterygium (HP:0001059)2.56642449
22Natal tooth (HP:0000695)2.54702355
23Milia (HP:0001056)2.48406139
24Vascular tortuosity (HP:0004948)2.41637445
25Abnormal ossification of hand bones (HP:0005921)2.41262020
26Onycholysis (HP:0001806)2.40715158
27Arterial tortuosity (HP:0005116)2.39110263
28Trismus (HP:0000211)2.38969948
29Ankle contracture (HP:0006466)2.36931335
30Abnormal hair laboratory examination (HP:0003328)2.33141459
31Aortic dissection (HP:0002647)2.32046043
32Coxa vara (HP:0002812)2.28692062
33Flattened epiphyses (HP:0003071)2.23953460
34Abnormality of dentin (HP:0010299)2.23073911
35Spinal cord compression (HP:0002176)2.20346281
36Abnormality of the acetabulum (HP:0003170)2.17574582
37Wormian bones (HP:0002645)2.16366878
38Congenital ichthyosiform erythroderma (HP:0007431)2.15591403
39Congenital glaucoma (HP:0001087)2.15013641
40Cardiovascular calcification (HP:0011915)2.14897077
41Amniotic constriction ring (HP:0009775)2.14145326
42Abnormality of placental membranes (HP:0011409)2.14145326
43Aortic aneurysm (HP:0004942)2.11651798
44Nail dystrophy (HP:0008404)2.08356011
45Broad metatarsal (HP:0001783)2.07881947
46Rough bone trabeculation (HP:0100670)2.07503239
47Distal upper limb amyotrophy (HP:0007149)2.04622010
48Upper limb amyotrophy (HP:0009129)2.04622010
49Aplasia/Hypoplasia of the vertebrae (HP:0008515)2.02639188
50Vertebral hypoplasia (HP:0008417)2.02639188
51Selective tooth agenesis (HP:0001592)2.01588519
52Abnormalities of placenta or umbilical cord (HP:0001194)2.01563360
53Abnormal hand bone ossification (HP:0010660)2.01448574
54Abnormality of the umbilical cord (HP:0010881)2.00211254
55Ventricular tachycardia (HP:0004756)1.99310408
56Cerebral aneurysm (HP:0004944)1.99024291
57Spinal rigidity (HP:0003306)1.97574532
58Plantar hyperkeratosis (HP:0007556)1.95267364
59Flat capital femoral epiphysis (HP:0003370)1.95231501
60Popliteal pterygium (HP:0009756)1.93486986
61Abnormal tarsal ossification (HP:0008369)1.92592319
62Advanced eruption of teeth (HP:0006288)1.91072839
63Vascular calcification (HP:0004934)1.90019095
64Abnormality of the proximal phalanges of the hand (HP:0009834)1.89082039
65Bladder diverticulum (HP:0000015)1.87861464
66Hand muscle atrophy (HP:0009130)1.87088244
67Joint stiffness (HP:0001387)1.86302173
68Abnormal trabecular bone morphology (HP:0100671)1.85818150
69Abnormality of glutamine family amino acid metabolism (HP:0010902)1.84871082
70Abnormal delivery (HP:0001787)1.84221447
71Achilles tendon contracture (HP:0001771)1.81831305
72Hyperacusis (HP:0010780)1.78208259
73Ovoid vertebral bodies (HP:0003300)1.77702850
74Poikiloderma (HP:0001029)1.77172374
75Mucopolysacchariduria (HP:0008155)1.76725774
76Urinary glycosaminoglycan excretion (HP:0003541)1.76725774
77Oligomenorrhea (HP:0000876)1.75894417
78Menorrhagia (HP:0000132)1.75831865
79Cupped ribs (HP:0000887)1.75797465
80Aplasia/Hypoplasia involving the femoral head and neck (HP:0009108)1.75650965
81Elbow flexion contracture (HP:0002987)1.74763396
82Delayed cranial suture closure (HP:0000270)1.74679642
83Tibial bowing (HP:0002982)1.74566279
84Mitral stenosis (HP:0001718)1.73541499
85Dysostosis multiplex (HP:0000943)1.72800995
86Abnormality of monocarboxylic acid metabolism (HP:0010996)1.72143114
87Limb-girdle muscle atrophy (HP:0003797)1.70866760
88Abnormality of the distal phalanx of the thumb (HP:0009617)1.70502164
89Hyperparathyroidism (HP:0000843)1.69757337
90Abnormality of the Achilles tendon (HP:0005109)1.69673883
91Sparse eyelashes (HP:0000653)1.68569717
92Bone pain (HP:0002653)1.68556152
93Soft skin (HP:0000977)1.68217285
94Dilatation of the ascending aorta (HP:0005111)1.66794483
95Genu recurvatum (HP:0002816)1.66343963
96Interstitial pulmonary disease (HP:0006530)1.66246958
97Down-sloping shoulders (HP:0200021)1.66231360
98Deep venous thrombosis (HP:0002625)1.65833686
99Sparse lateral eyebrow (HP:0005338)1.63148456
100Abdominal distention (HP:0003270)1.62726977

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA25.42200131
2TESK13.46653154
3NME23.31443508
4MST1R3.24801026
5EPHB23.19529078
6PAK42.64613876
7RIPK12.60649474
8MET2.53519179
9LIMK12.50795567
10SMG12.37277853
11TRIB32.34965094
12PIM22.28009095
13PDGFRA2.12821039
14VRK21.99927981
15TESK21.95020986
16PTK21.89127927
17MAP3K121.84552100
18NTRK11.82313748
19PBK1.76604490
20LATS21.69274158
21ERN11.67296667
22MYLK1.66766903
23ABL21.48519443
24DDR21.47628006
25EIF2AK11.44764633
26IRAK31.42949644
27LMTK21.35766660
28SIK11.34747516
29TTN1.33947938
30FER1.30998259
31TGFBR21.30269926
32MAPKAPK31.22572045
33ICK1.20782332
34FLT31.18905313
35EPHB11.15576649
36ARAF1.13427359
37ILK1.12705067
38DAPK31.01896745
39TSSK61.01272740
40LRRK20.99757316
41PAK20.97576413
42PTK60.95281688
43PRKG20.92113591
44PKN20.92107181
45NME10.90464999
46KDR0.88368962
47TAF10.87106700
48TIE10.87019943
49SCYL20.81387122
50MUSK0.79996322
51DYRK1B0.79807928
52NEK90.73774241
53RPS6KA20.73071224
54MAP3K60.72762150
55ZAP700.71216877
56FGFR40.71140270
57MST40.67896633
58ERBB40.67070833
59RPS6KB20.65421287
60PRKD20.63706451
61MAP3K30.62407863
62STK160.62002499
63PRKCI0.60929658
64MAP3K80.60773697
65PDGFRB0.59594129
66MOS0.59230809
67PIK3CA0.56983577
68DYRK30.56414666
69ROCK20.55675900
70BMX0.54048894
71MTOR0.53332422
72TAOK20.51889036
73CDK70.51723221
74MAP3K110.50927401
75CDC42BPA0.49775262
76AURKB0.47436658
77CDK90.40903306
78CAMK2G0.39065428
79STK240.38842658
80CDK60.38544681
81TBK10.38520059
82LATS10.38373654
83MAP3K50.37308574
84PRPF4B0.35958573
85AKT20.35499311
86PAK10.34315862
87AURKA0.32894289
88CDK140.30880109
89GSK3A0.30491876
90DMPK0.29651288
91PRKCD0.28470659
92ROCK10.27818282
93CDK150.25961780
94MAPKAPK20.25655914
95SRC0.25571421
96BRSK10.25320255
97CDK11A0.24505494
98CDK180.23955180
99RPS6KC10.23940071
100RPS6KL10.23940071

Predicted pathways (KEGG)

RankGene SetZ-score
1Sulfur metabolism_Homo sapiens_hsa009203.34475308
2Cyanoamino acid metabolism_Homo sapiens_hsa004602.87700953
3Other glycan degradation_Homo sapiens_hsa005112.57643743
4Galactose metabolism_Homo sapiens_hsa000522.37845924
5Sulfur relay system_Homo sapiens_hsa041222.35903373
6Glutathione metabolism_Homo sapiens_hsa004802.28793039
7Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.23437270
8Glycosaminoglycan degradation_Homo sapiens_hsa005312.03933784
9ECM-receptor interaction_Homo sapiens_hsa045122.00074817
10Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.94320996
112-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.90760149
12Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.76249180
13Steroid biosynthesis_Homo sapiens_hsa001001.68723226
14Proteasome_Homo sapiens_hsa030501.68291769
15Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.66779219
16Fatty acid elongation_Homo sapiens_hsa000621.63933162
17Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.55767473
18Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.50397885
19Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.49895977
20Pentose phosphate pathway_Homo sapiens_hsa000301.46601732
21Fructose and mannose metabolism_Homo sapiens_hsa000511.44679369
22Biosynthesis of amino acids_Homo sapiens_hsa012301.42338342
23* p53 signaling pathway_Homo sapiens_hsa041151.36976620
24N-Glycan biosynthesis_Homo sapiens_hsa005101.33700412
25Focal adhesion_Homo sapiens_hsa045101.31827422
26Bladder cancer_Homo sapiens_hsa052191.26886113
27Ribosome_Homo sapiens_hsa030101.26685272
28Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.23692172
29Arginine biosynthesis_Homo sapiens_hsa002201.23344922
30Pentose and glucuronate interconversions_Homo sapiens_hsa000401.21977526
31Sphingolipid metabolism_Homo sapiens_hsa006001.19957140
32Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.18619322
33Phenylalanine metabolism_Homo sapiens_hsa003601.17537751
34Lysosome_Homo sapiens_hsa041421.17175372
35Fat digestion and absorption_Homo sapiens_hsa049751.15907013
36Vibrio cholerae infection_Homo sapiens_hsa051101.14664719
37Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.13540783
38Arginine and proline metabolism_Homo sapiens_hsa003301.13154774
39Carbon metabolism_Homo sapiens_hsa012001.12766748
40Proteoglycans in cancer_Homo sapiens_hsa052051.12335295
41Pyruvate metabolism_Homo sapiens_hsa006201.12172463
42Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.07721063
43Amoebiasis_Homo sapiens_hsa051461.02998112
44Protein digestion and absorption_Homo sapiens_hsa049741.02971684
45Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.02937769
46Small cell lung cancer_Homo sapiens_hsa052221.02654264
47Drug metabolism - other enzymes_Homo sapiens_hsa009831.01426399
48Renin-angiotensin system_Homo sapiens_hsa046140.99166430
49Tight junction_Homo sapiens_hsa045300.94961170
50Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.91161642
51Primary bile acid biosynthesis_Homo sapiens_hsa001200.89457164
52Chemical carcinogenesis_Homo sapiens_hsa052040.88299554
53Adherens junction_Homo sapiens_hsa045200.86948384
54Hippo signaling pathway_Homo sapiens_hsa043900.86899989
55Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.86616717
56Complement and coagulation cascades_Homo sapiens_hsa046100.85538681
57Fatty acid degradation_Homo sapiens_hsa000710.85146185
58Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.83380881
59Shigellosis_Homo sapiens_hsa051310.83155015
60PPAR signaling pathway_Homo sapiens_hsa033200.82694587
61Thyroid cancer_Homo sapiens_hsa052160.80912497
62Starch and sucrose metabolism_Homo sapiens_hsa005000.79075725
63Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.79000483
64Central carbon metabolism in cancer_Homo sapiens_hsa052300.78683624
65Mineral absorption_Homo sapiens_hsa049780.75046662
66Pyrimidine metabolism_Homo sapiens_hsa002400.73896607
67Leukocyte transendothelial migration_Homo sapiens_hsa046700.73435862
68Retinol metabolism_Homo sapiens_hsa008300.72610126
69Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.70570874
70Basal cell carcinoma_Homo sapiens_hsa052170.70457382
71Peroxisome_Homo sapiens_hsa041460.70335155
72Salmonella infection_Homo sapiens_hsa051320.70307993
73Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.69344242
74Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.68500553
75Regulation of actin cytoskeleton_Homo sapiens_hsa048100.68405748
76Tyrosine metabolism_Homo sapiens_hsa003500.68194414
77Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.66225661
78Histidine metabolism_Homo sapiens_hsa003400.64530300
79Fatty acid metabolism_Homo sapiens_hsa012120.64279951
80Notch signaling pathway_Homo sapiens_hsa043300.63842080
81Vitamin B6 metabolism_Homo sapiens_hsa007500.62285685
82Vitamin digestion and absorption_Homo sapiens_hsa049770.61884538
83Cysteine and methionine metabolism_Homo sapiens_hsa002700.61841959
84Endocytosis_Homo sapiens_hsa041440.57763388
85Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.56223375
86Axon guidance_Homo sapiens_hsa043600.54396064
87Steroid hormone biosynthesis_Homo sapiens_hsa001400.54364473
88Metabolic pathways_Homo sapiens_hsa011000.54332528
89Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.53917953
90Folate biosynthesis_Homo sapiens_hsa007900.52307252
91Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.51083491
92Base excision repair_Homo sapiens_hsa034100.49370415
93AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.49241795
94Hepatitis C_Homo sapiens_hsa051600.47680925
95Nucleotide excision repair_Homo sapiens_hsa034200.46595519
96PI3K-Akt signaling pathway_Homo sapiens_hsa041510.45919279
97Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.45432235
98Chronic myeloid leukemia_Homo sapiens_hsa052200.44973104
99Huntingtons disease_Homo sapiens_hsa050160.43932109
100Dilated cardiomyopathy_Homo sapiens_hsa054140.43884773

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