TP63

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 a member of the p53 family of transcription factors. The functional domains of p53 family proteins include an N-terminal transactivation domain, a central DNA-binding domain and an oligomerization domain. Alternative splicing of this gene and the use of alternative promoters results in multiple transcript variants encoding different isoforms that vary in their functional properties. These isoforms function during skin development and maintenance, adult stem/progenitor cell regulation, heart development and premature aging. Some isoforms have been found to protect the germline by eliminating oocytes or testicular germ cells that have suffered DNA damage. Mutations in this gene are associated with ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3); split-hand/foot malformation 4 (SHFM4); ankyloblepharon-ectodermal defects-cleft lip/palate; ADULT syndrome (acro-dermato-ungual-lacrimal-tooth); limb-mammary syndrome; Rap-Hodgkin syndrome (RHS); and orofacial cleft 8. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1bundle of His cell to Purkinje myocyte communication (GO:0086069)9.97518412
2* keratinocyte proliferation (GO:0043616)9.69750607
3* keratinocyte differentiation (GO:0030216)8.49839348
4* multicellular organismal water homeostasis (GO:0050891)7.99862055
5epidermis development (GO:0008544)7.53555662
6hair cycle (GO:0042633)7.52434834
7molting cycle (GO:0042303)7.52434834
8intermediate filament organization (GO:0045109)7.05210941
9negative regulation of keratinocyte proliferation (GO:0010839)6.84662807
10keratinocyte development (GO:0003334)6.74516027
11* water homeostasis (GO:0030104)6.58188193
12* epidermal cell differentiation (GO:0009913)6.50998121
13cell-substrate junction assembly (GO:0007044)6.39462829
14peptide cross-linking (GO:0018149)6.39421617
15surfactant homeostasis (GO:0043129)5.94564589
16gap junction assembly (GO:0016264)5.63605084
17chemical homeostasis within a tissue (GO:0048875)5.19743243
18intermediate filament cytoskeleton organization (GO:0045104)4.78515887
19intermediate filament-based process (GO:0045103)4.62746072
20skin morphogenesis (GO:0043589)4.56767592
21* regulation of keratinocyte proliferation (GO:0010837)4.53027928
22long-chain fatty acid biosynthetic process (GO:0042759)4.43089154
23ectoderm development (GO:0007398)4.41199646
24regulation of hair follicle development (GO:0051797)4.33563723
25intestinal epithelial cell development (GO:0060576)4.23816116
26* establishment of tissue polarity (GO:0007164)4.23482665
27* establishment of planar polarity (GO:0001736)4.23482665
28positive regulation of epidermis development (GO:0045684)4.20069073
29positive regulation of epidermal cell differentiation (GO:0045606)4.15372587
30dichotomous subdivision of an epithelial terminal unit (GO:0060600)4.04985650
31ventricular cardiac muscle cell action potential (GO:0086005)3.78982021
32epithelium development (GO:0060429)3.70904428
33regulation of transforming growth factor beta2 production (GO:0032909)3.62479809
34regulation of hair cycle (GO:0042634)3.54960274
35lipoxygenase pathway (GO:0019372)3.53441886
36phosphatidylserine acyl-chain remodeling (GO:0036150)3.48270789
37skin development (GO:0043588)3.47330358
38positive regulation of hair cycle (GO:0042635)3.39604293
39positive regulation of hair follicle development (GO:0051798)3.39604293
40hypotonic response (GO:0006971)3.39050652
41planar cell polarity pathway involved in neural tube closure (GO:0090179)3.37721627
42regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.28319833
43* regulation of epidermis development (GO:0045682)3.24603849
44phosphatidylinositol acyl-chain remodeling (GO:0036149)3.23637798
45regulation of heart rate by cardiac conduction (GO:0086091)3.18690762
46linoleic acid metabolic process (GO:0043651)3.16976631
47cell junction organization (GO:0034330)3.15931452
48cell junction assembly (GO:0034329)3.11652423
49positive regulation of keratinocyte differentiation (GO:0045618)3.10091420
50cell adhesion mediated by integrin (GO:0033627)3.07344600
51atrioventricular valve morphogenesis (GO:0003181)3.06714294
52gland morphogenesis (GO:0022612)3.05297640
53* molting cycle process (GO:0022404)3.04510171
54* hair cycle process (GO:0022405)3.04510171
55negative regulation of interferon-gamma production (GO:0032689)3.00024625
56epithelial cell-cell adhesion (GO:0090136)2.94544595
57mesodermal cell differentiation (GO:0048333)2.93779562
58eyelid development in camera-type eye (GO:0061029)2.90611707
59hair follicle development (GO:0001942)2.88171725
60cell communication involved in cardiac conduction (GO:0086065)2.88120025
61* hair follicle morphogenesis (GO:0031069)2.88041052
62protein localization to endosome (GO:0036010)2.85747855
63negative regulation of chondrocyte differentiation (GO:0032331)2.84179344
64cellular component disassembly involved in execution phase of apoptosis (GO:0006921)2.84061284
65G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)2.83578287
66regulation of phospholipase A2 activity (GO:0032429)2.83020790
67cardiac right ventricle morphogenesis (GO:0003215)2.82994009
68positive regulation of monocyte chemotaxis (GO:0090026)2.81977073
69phosphatidylethanolamine acyl-chain remodeling (GO:0036152)2.75750886
70wound healing (GO:0042060)2.71891141
71endodermal cell differentiation (GO:0035987)2.67237376
72skeletal muscle tissue regeneration (GO:0043403)2.64414254
73plasma membrane repair (GO:0001778)2.64116200
74phosphatidylserine metabolic process (GO:0006658)2.64047761
75Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.63599418
76cardiac muscle cell action potential involved in contraction (GO:0086002)2.63469521
77regulation of establishment of planar polarity (GO:0090175)2.61099292
78detection of bacterium (GO:0016045)2.60090483
79cardiac muscle cell action potential (GO:0086001)2.59459395
80phosphatidylglycerol acyl-chain remodeling (GO:0036148)2.58196077
81cell-cell junction assembly (GO:0007043)2.57982275
82regulation of cardioblast differentiation (GO:0051890)2.57578478
83cardiac conduction (GO:0061337)2.57374699
84* regulation of keratinocyte differentiation (GO:0045616)2.56138711
85regulation of protein localization to cell surface (GO:2000008)2.54411050
86phosphatidylcholine acyl-chain remodeling (GO:0036151)2.52690311
87oocyte development (GO:0048599)2.52166029
88renal system development (GO:0072001)2.51325762
89* epithelial cell proliferation (GO:0050673)2.51217255
90endosome organization (GO:0007032)2.50402244
91establishment of epithelial cell polarity (GO:0090162)2.48562655
92renal filtration (GO:0097205)2.48003162
93regulation of hypersensitivity (GO:0002883)2.46022413
94negative regulation of cell fate specification (GO:0009996)2.45199885
95cytoskeletal anchoring at plasma membrane (GO:0007016)2.36759036
96hemidesmosome assembly (GO:0031581)16.9661646
97desmosome organization (GO:0002934)15.8938069
98* establishment of skin barrier (GO:0061436)14.3112257
99keratinization (GO:0031424)13.9683912
100* regulation of water loss via skin (GO:0033561)12.5644306

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse5.04714225
2SMAD4_19686287_ChIP-ChIP_HaCaT_Human4.33100578
3P63_26484246_Chip-Seq_KERATINOCYTES_Human3.45180662
4SMAD3_18955504_ChIP-ChIP_HaCaT_Human2.87053507
5SMAD2_18955504_ChIP-ChIP_HaCaT_Human2.87053507
6SOX9_24532713_ChIP-Seq_HFSC_Mouse2.47807850
7STAT6_21828071_ChIP-Seq_BEAS2B_Human2.31794218
8* TP63_23658742_ChIP-Seq_EP156T_Human2.16812096
9TP63_17297297_ChIP-ChIP_HaCaT_Human17.2875371
10ESR2_21235772_ChIP-Seq_MCF-7_Human1.79601142
11ZNF263_19887448_ChIP-Seq_K562_Human1.75228356
12* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.64917338
13FOXO3_23340844_ChIP-Seq_DLD1_Human1.62537020
14* TP63_22573176_ChIP-Seq_HFKS_Human1.56411464
15* TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.55652982
16KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.51320551
17ESR1_21235772_ChIP-Seq_MCF-7_Human1.45498509
18UBF1/2_26484160_Chip-Seq_HMECs_Human1.38412152
19NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.37834523
20TCF4_18268006_ChIP-ChIP_LS174T_Human1.35956218
21TP53_18474530_ChIP-ChIP_U2OS_Human1.35936622
22KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.35268792
23SOX2_20726797_ChIP-Seq_SW620_Human1.33048156
24* CJUN_26792858_Chip-Seq_BT549_Human1.32602337
25HIF1A_21447827_ChIP-Seq_MCF-7_Human1.32100732
26FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human1.27412290
27CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.27089726
28RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.26527806
29ESR1_20079471_ChIP-ChIP_T-47D_Human1.24701529
30AHR_22903824_ChIP-Seq_MCF-7_Human1.24091916
31* KLF5_25053715_ChIP-Seq_YYC3_Human1.23382170
32RXR_22108803_ChIP-Seq_LS180_Human1.22177925
33PPAR_26484153_Chip-Seq_NCI-H1993_Human1.20779158
34ATF3_27146783_Chip-Seq_COLON_Human1.15836675
35ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.15209968
36EGR1_19032775_ChIP-ChIP_M12_Human1.13159282
37SOX2_27498859_Chip-Seq_STOMACH_Mouse1.03725863
38GATA3_24758297_ChIP-Seq_MCF-7_Human1.03552113
39STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.97496614
40AR_21572438_ChIP-Seq_LNCaP_Human0.95631156
41TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.95469289
42RUNX1_27514584_Chip-Seq_MCF-7_Human0.93261632
43PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.92479338
44TP53_16413492_ChIP-PET_HCT116_Human0.92208281
45* ARNT_22903824_ChIP-Seq_MCF-7_Human0.92188497
46RARG_19884340_ChIP-ChIP_MEFs_Mouse0.90677792
47TRIM28_21343339_ChIP-Seq_HEK293_Human0.90195485
48UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.90121592
49GATA6_25053715_ChIP-Seq_YYC3_Human0.88823218
50CLOCK_20551151_ChIP-Seq_293T_Human0.87197450
51GATA4_25053715_ChIP-Seq_YYC3_Human0.86915085
52SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.86657700
53JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.85833514
54GATA2_21666600_ChIP-Seq_HMVEC_Human0.85750573
55CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.84963961
56TBX20_22328084_ChIP-Seq_HEART_Mouse0.84324506
57TBX20_22080862_ChIP-Seq_HEART_Mouse0.84324506
58JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.83380731
59TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.80604053
60GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.80409230
61AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.79417951
62RACK7_27058665_Chip-Seq_MCF-7_Human0.79004947
63* FOXM1_26456572_ChIP-Seq_MCF-7_Human0.78300003
64NRF2_20460467_ChIP-Seq_MEFs_Mouse0.76910325
65NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.76910325
66ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.76182044
67SMAD3_21741376_ChIP-Seq_HESCs_Human0.74090154
68P300_27058665_Chip-Seq_ZR-75-30cells_Human0.72910001
69NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.69166785
70BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.68785846
71FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.68649692
72GATA6_21074721_ChIP-Seq_CACO-2_Human0.67981861
73NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.66830733
74EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.66144905
75P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.64205914
76ELK4_26923725_Chip-Seq_MESODERM_Mouse0.63336734
77PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.62730134
78CTNNB1_20460455_ChIP-Seq_HCT116_Human0.62626512
79EP300_21415370_ChIP-Seq_HL-1_Mouse0.62317438
80CDX2_20551321_ChIP-Seq_CACO-2_Human0.61488807
81FOXP3_17237761_ChIP-ChIP_TREG_Mouse0.61043765
82FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.60869036
83PCGF4_22325352_ChIP-Seq_293T-Rex_Human0.56922784
84CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.56509403
85RBPJ_21746931_ChIP-Seq_IB4_Human0.56509308
86ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.54892054
87* RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.54843122
88ETV1_20927104_ChIP-Seq_GIST48_Human0.52873040
89AR_21909140_ChIP-Seq_LNCAP_Human0.52332460
90ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.52228991
91FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.51282242
92* CDX2_22108803_ChIP-Seq_LS180_Human0.50734736
93BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.50688722
94TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.50136912
95PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.48807849
96ELK3_25401928_ChIP-Seq_HUVEC_Human0.48390169
97BRD4_25478319_ChIP-Seq_HGPS_Human0.47994868
98CTCF_27219007_Chip-Seq_Bcells_Human0.47632767
99HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.47208756
100SMAD_19615063_ChIP-ChIP_OVARY_Human0.46802529

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000579_abnormal_nail_morphology7.13477006
2MP0002796_impaired_skin_barrier6.93276917
3MP0005275_abnormal_skin_tensile5.46052497
4MP0010234_abnormal_vibrissa_follicle5.10974431
5MP0005501_abnormal_skin_physiology4.00221407
6MP0000566_synostosis3.96634252
7MP0003941_abnormal_skin_development3.87715889
8MP0010678_abnormal_skin_adnexa3.47219187
9MP0001216_abnormal_epidermal_layer3.46793514
10MP0003453_abnormal_keratinocyte_physiol3.36511151
11MP0000383_abnormal_hair_follicle3.32546522
12MP0002060_abnormal_skin_morphology3.12582164
13MP0004381_abnormal_hair_follicle2.98567283
14MP0000467_abnormal_esophagus_morphology2.90423796
15MP0002098_abnormal_vibrissa_morphology2.81082431
16MP0000762_abnormal_tongue_morphology2.76865739
17MP0010771_integument_phenotype2.60340312
18MP0003705_abnormal_hypodermis_morpholog2.44049984
19MP0000377_abnormal_hair_follicle2.36928456
20MP0003566_abnormal_cell_adhesion2.27651662
21MP0005409_darkened_coat_color2.22471046
22MP0009379_abnormal_foot_pigmentation2.15743048
23MP0004947_skin_inflammation1.98969485
24MP0000427_abnormal_hair_cycle1.84802602
25MP0002234_abnormal_pharynx_morphology1.83604128
26MP0004264_abnormal_extraembryonic_tissu1.72527403
27MP0009931_abnormal_skin_appearance1.66836985
28MP0004782_abnormal_surfactant_physiolog1.64411369
29MP0000647_abnormal_sebaceous_gland1.58358202
30MP0005023_abnormal_wound_healing1.55045525
31MP0009053_abnormal_anal_canal1.48732628
32MP0004885_abnormal_endolymph1.40297749
33MP0001191_abnormal_skin_condition1.33915678
34MP0001849_ear_inflammation1.31743063
35MP0000367_abnormal_coat/_hair1.31079877
36MP0003191_abnormal_cellular_cholesterol1.25628950
37MP0002095_abnormal_skin_pigmentation1.21775415
38MP0001188_hyperpigmentation1.07622647
39MP0009780_abnormal_chondrocyte_physiolo1.07516222
40MP0010352_gastrointestinal_tract_polyps1.05940179
41MP0008789_abnormal_olfactory_epithelium0.99913748
42MP0001851_eye_inflammation0.98593904
43MP0004272_abnormal_basement_membrane0.96748080
44MP0005377_hearing/vestibular/ear_phenot0.93702691
45MP0003878_abnormal_ear_physiology0.93702691
46MP0000678_abnormal_parathyroid_gland0.93685748
47MP0000627_abnormal_mammary_gland0.84605233
48MP0003950_abnormal_plasma_membrane0.83944314
49MP0002177_abnormal_outer_ear0.80861368
50MP0001243_abnormal_dermal_layer0.77277734
51MP0003045_fibrosis0.76311826
52MP0002877_abnormal_melanocyte_morpholog0.74899999
53MP0003755_abnormal_palate_morphology0.73942692
54MP0005394_taste/olfaction_phenotype0.72494063
55MP0005499_abnormal_olfactory_system0.72494063
56MP0003315_abnormal_perineum_morphology0.71880509
57MP0005257_abnormal_intraocular_pressure0.67916675
58MP0010030_abnormal_orbit_morphology0.67071340
59MP0000465_gastrointestinal_hemorrhage0.66393101
60MP0001340_abnormal_eyelid_morphology0.64123144
61MP0001784_abnormal_fluid_regulation0.60014927
62MP0001299_abnormal_eye_distance/0.59933402
63MP0000537_abnormal_urethra_morphology0.56533649
64MP0002111_abnormal_tail_morphology0.56448854
65MP0005075_abnormal_melanosome_morpholog0.55868597
66MP0002282_abnormal_trachea_morphology0.46935457
67MP0005076_abnormal_cell_differentiation0.46386351
68MP0008260_abnormal_autophagy0.46184534
69MP0005503_abnormal_tendon_morphology0.43438776
70MP0004197_abnormal_fetal_growth/weight/0.43023285
71MP0000015_abnormal_ear_pigmentation0.42896124
72MP0000858_altered_metastatic_potential0.41972055
73MP0003011_delayed_dark_adaptation0.41517310
74MP0002006_tumorigenesis0.40303304
75MP0004185_abnormal_adipocyte_glucose0.39195509
76MP0000432_abnormal_head_morphology0.39117479
77MP0006138_congestive_heart_failure0.38974806
78MP0000750_abnormal_muscle_regeneration0.38091159
79MP0005197_abnormal_uvea_morphology0.37894927
80MP0003763_abnormal_thymus_physiology0.37674627
81MP0003638_abnormal_response/metabolism_0.36537234
82MP0002896_abnormal_bone_mineralization0.36274948
83MP0003828_pulmonary_edema0.35239226
84MP0002233_abnormal_nose_morphology0.34963543
85MP0004019_abnormal_vitamin_homeostasis0.34009822
86MP0000733_abnormal_muscle_development0.33154269
87MP0000470_abnormal_stomach_morphology0.33035615
88MP0005193_abnormal_anterior_eye0.31824412
89MP0000428_abnormal_craniofacial_morphol0.29617565
90MP0005248_abnormal_Harderian_gland0.29301768
91MP0004134_abnormal_chest_morphology0.29035601
92MP0002133_abnormal_respiratory_system0.28738004
93MP0005388_respiratory_system_phenotype0.28738004
94MP0000462_abnormal_digestive_system0.27038626
95MP0005508_abnormal_skeleton_morphology0.25138976
96MP0005174_abnormal_tail_pigmentation0.23784954
97MP0002109_abnormal_limb_morphology0.23712821
98MP0002697_abnormal_eye_size0.22836320
99MP0002089_abnormal_postnatal_growth/wei0.22453977
100MP0003935_abnormal_craniofacial_develop0.21195443

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of nail color (HP:0100643)9.65666748
2Onycholysis (HP:0001806)9.20953498
3Plantar hyperkeratosis (HP:0007556)8.73279909
4Milia (HP:0001056)7.90799372
5Palmoplantar hyperkeratosis (HP:0000972)7.87351681
6Fragile nails (HP:0001808)7.50366707
7Palmar hyperkeratosis (HP:0010765)7.50344331
8Hypotrichosis (HP:0001006)6.29929998
9* Thick nail (HP:0001805)5.94355847
10Right ventricular cardiomyopathy (HP:0011663)5.66496023
11* Alopecia of scalp (HP:0002293)5.38170184
12Atrophic scars (HP:0001075)5.33880977
13Pili torti (HP:0003777)5.19577450
14Erythroderma (HP:0001019)5.04127358
15* Nail dystrophy (HP:0008404)5.04070774
16Increased IgE level (HP:0003212)4.95795275
17Woolly hair (HP:0002224)4.68552207
18Ridged nail (HP:0001807)4.68196109
19Lip pit (HP:0100267)4.67357663
20Abnormal blistering of the skin (HP:0008066)4.55866461
21Congenital ichthyosiform erythroderma (HP:0007431)4.43279252
22Erythema (HP:0010783)4.31542602
23Oral leukoplakia (HP:0002745)4.14906309
24* Abnormality of secondary sexual hair (HP:0009888)4.11653036
25* Abnormality of the axillary hair (HP:0100134)4.11653036
26* Corneal erosion (HP:0200020)3.90555548
27* Palmoplantar keratoderma (HP:0000982)3.63042381
28* Sparse eyelashes (HP:0000653)3.61352891
29Hypoplasia of dental enamel (HP:0006297)3.58934937
30* Sparse scalp hair (HP:0002209)3.55133802
31Congenital nonbullous ichthyosiform erythroderma (HP:0007479)3.54487250
32Parakeratosis (HP:0001036)3.41826482
33Popliteal pterygium (HP:0009756)3.40680928
34Natal tooth (HP:0000695)3.40035136
35* Abnormal hair laboratory examination (HP:0003328)3.26109836
36Ectropion (HP:0000656)3.24554975
37Abnormality of placental membranes (HP:0011409)3.06492923
38Amniotic constriction ring (HP:0009775)3.06492923
39Dry hair (HP:0011359)3.05122706
40Pterygium (HP:0001059)2.99798951
41Fragile skin (HP:0001030)2.87029990
42* Abnormality of the salivary glands (HP:0010286)2.84710449
43Abnormality of the neuromuscular junction (HP:0003398)2.77641011
44Fatigable weakness (HP:0003473)2.77641011
45Advanced eruption of teeth (HP:0006288)2.76435750
46* Hypohidrosis (HP:0000966)2.62867635
47Ankyloglossia (HP:0010296)2.59611220
48Conjunctival hamartoma (HP:0100780)2.54125688
49Aplasia cutis congenita (HP:0001057)2.48783857
50* Hypoplastic labia majora (HP:0000059)2.37744958
51Hyperhidrosis (HP:0000975)2.36286621
52* Anonychia (HP:0001798)2.34294602
53* Absent eyelashes (HP:0000561)2.25311658
54* Carious teeth (HP:0000670)2.23183149
55* Blepharitis (HP:0000498)2.21845897
56* Abnormality of the labia majora (HP:0012881)2.18230143
57* Oligodontia (HP:0000677)2.09107032
58Ventricular tachycardia (HP:0004756)2.08480626
59Follicular hyperkeratosis (HP:0007502)2.07059258
60Laryngomalacia (HP:0001601)2.06424687
61Aplasia involving bones of the upper limbs (HP:0009823)2.05955974
62Aplasia of the phalanges of the hand (HP:0009802)2.05955974
63Aplasia involving bones of the extremities (HP:0009825)2.05955974
64Dehydration (HP:0001944)2.02449684
65Acanthosis nigricans (HP:0000956)2.00813739
66* Selective tooth agenesis (HP:0001592)2.00492684
67Pruritus (HP:0000989)1.94554713
68* Abnormality of the fingernails (HP:0001231)1.94195915
69* Hypodontia (HP:0000668)1.94026005
70Gangrene (HP:0100758)1.92392226
71Multifactorial inheritance (HP:0001426)1.91481620
72Curly hair (HP:0002212)1.90772782
73Pustule (HP:0200039)1.89007699
74Abnormality of oral frenula (HP:0000190)1.88784043
75Furrowed tongue (HP:0000221)1.84457016
76* Absent hair (HP:0002298)1.84320462
77* Skin ulcer (HP:0200042)1.83737681
78Amelogenesis imperfecta (HP:0000705)1.81209218
79Skin pits (HP:0100276)1.71191056
80Premature loss of primary teeth (HP:0006323)1.70921021
81Recurrent corneal erosions (HP:0000495)1.70817115
82Hamartoma of the eye (HP:0010568)1.70499068
83Brittle hair (HP:0002299)1.69293460
84Cheilitis (HP:0100825)1.65705197
85Corneal dystrophy (HP:0001131)1.61086877
86Squamous cell carcinoma (HP:0002860)1.57859455
87* Slow-growing hair (HP:0002217)1.56898897
88* Abnormality of hair growth rate (HP:0011363)1.56898897
89Neonatal death (HP:0003811)1.56358527
90Autoamputation (HP:0001218)1.55720916
91Abnormality of the gastric mucosa (HP:0004295)1.53452636
92Esophageal atresia (HP:0002032)1.52667112
93Abnormality of the alveolar ridges (HP:0006477)1.51518106
94* Melanocytic nevus (HP:0000995)1.50681180
95* Abnormality of the dental root (HP:0006486)1.49220181
96* Taurodontia (HP:0000679)1.49220181
97* Abnormality of permanent molar morphology (HP:0011071)1.49220181
98* Xerostomia (HP:0000217)1.41110072
99* Fine hair (HP:0002213)1.40066346
100Hypoplasia of the uterus (HP:0000013)1.37468431

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MST1R5.65295133
2STK244.97351076
3MET3.89673588
4EPHA23.56376781
5MAPKAPK33.28229233
6MAP3K22.98877133
7MAP3K92.89984212
8EPHB22.74274659
9RIPK12.73495801
10LATS12.72291481
11FER2.42214706
12MAP3K62.36773152
13ARAF2.19821056
14SIK12.17723159
15TRPM71.90451980
16LATS21.83305641
17EEF2K1.75050099
18NTRK11.68654892
19PTK21.62681177
20STK31.56932961
21MAP3K131.53033048
22STK38L1.47376673
23ERN11.40795564
24EPHB11.39149336
25PIM21.35797518
26MAPK71.35229708
27MAP3K31.35041593
28FGFR11.34652115
29PIK3CG1.29817620
30FGFR31.23499805
31PDGFRA1.22724109
32FLT31.21625593
33CDK121.21456218
34OBSCN0.99257741
35MAPK120.88398542
36RPS6KB20.87946063
37MST40.82240746
38KSR20.81562809
39LMTK20.79877894
40DMPK0.79753431
41ERBB30.77697517
42MAPKAPK50.73931011
43SMG10.72714551
44NEK60.71144024
45PHKG20.70061328
46PHKG10.70061328
47MAP3K70.69988157
48EPHA30.69792689
49MAP3K10.68095898
50BCR0.66920877
51TGFBR20.65897448
52PAK40.64533190
53MAP2K60.63593783
54PRKCE0.62773924
55MAP3K140.60810561
56STK380.59675132
57MTOR0.57774562
58MOS0.57070504
59PBK0.53796890
60RAF10.53792203
61PDGFRB0.52871460
62NME10.52721061
63PRKCI0.52249815
64RPS6KA20.52166005
65SGK4940.51787673
66SGK2230.51787673
67MAPKAPK20.50957117
68JAK10.50556618
69TTN0.50236277
70CDC42BPA0.49997793
71SGK30.49878373
72PRPF4B0.49715875
73SIK30.49673105
74TRIB30.48450010
75BMPR1B0.44809471
76CHUK0.41945266
77PTK60.41825628
78IRAK10.40529007
79JAK30.40466996
80FGFR20.40237313
81BRAF0.38942345
82WNK10.38144390
83KSR10.35716269
84IGF1R0.33487882
85RET0.33168445
86EIF2AK20.32500689
87CDK90.30910838
88BRD40.29443648
89ERBB20.27956729
90CDK60.26804757
91RPS6KA10.25850430
92ADRBK10.25645952
93BMX0.25307575
94ICK0.24924167
95SGK10.24298713
96MARK20.24258565
97TAOK30.23264156
98MAP2K10.22138819
99CSF1R0.21952171
100MAPK90.21293956

Predicted pathways (KEGG)

RankGene SetZ-score
1ECM-receptor interaction_Homo sapiens_hsa045123.85870011
2alpha-Linolenic acid metabolism_Homo sapiens_hsa005923.36998160
3Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054123.27674854
4Linoleic acid metabolism_Homo sapiens_hsa005912.59219219
5Small cell lung cancer_Homo sapiens_hsa052222.47361633
6Amoebiasis_Homo sapiens_hsa051462.22912452
7Dorso-ventral axis formation_Homo sapiens_hsa043202.17828683
8Ether lipid metabolism_Homo sapiens_hsa005652.00606424
9Circadian rhythm_Homo sapiens_hsa047101.93976398
10Sphingolipid metabolism_Homo sapiens_hsa006001.90239919
11Focal adhesion_Homo sapiens_hsa045101.86000727
12VEGF signaling pathway_Homo sapiens_hsa043701.80464844
13Adherens junction_Homo sapiens_hsa045201.74572434
14GnRH signaling pathway_Homo sapiens_hsa049121.73209194
15Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.70904701
16p53 signaling pathway_Homo sapiens_hsa041151.68971313
17Notch signaling pathway_Homo sapiens_hsa043301.62026978
18Histidine metabolism_Homo sapiens_hsa003401.60472404
19Bladder cancer_Homo sapiens_hsa052191.54908107
20Arachidonic acid metabolism_Homo sapiens_hsa005901.53056988
21Toxoplasmosis_Homo sapiens_hsa051451.50387661
22Thyroid cancer_Homo sapiens_hsa052161.45213336
23Phototransduction_Homo sapiens_hsa047441.42014877
24Ovarian steroidogenesis_Homo sapiens_hsa049131.39644644
25Proteoglycans in cancer_Homo sapiens_hsa052051.36215911
26Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.30349354
27Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.24682054
28ErbB signaling pathway_Homo sapiens_hsa040121.24068555
29Renin secretion_Homo sapiens_hsa049241.18496728
30Phosphatidylinositol signaling system_Homo sapiens_hsa040701.15947154
31Axon guidance_Homo sapiens_hsa043601.15435446
32* MicroRNAs in cancer_Homo sapiens_hsa052061.15191655
33Long-term depression_Homo sapiens_hsa047301.12361823
34Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.08100953
35Glioma_Homo sapiens_hsa052141.06395156
36Dilated cardiomyopathy_Homo sapiens_hsa054141.03860962
37Hippo signaling pathway_Homo sapiens_hsa043901.02191030
38Inositol phosphate metabolism_Homo sapiens_hsa005621.00376248
39Renal cell carcinoma_Homo sapiens_hsa052110.97685238
40Pathways in cancer_Homo sapiens_hsa052000.97136006
41Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.96907887
42Pancreatic cancer_Homo sapiens_hsa052120.96533939
43Tight junction_Homo sapiens_hsa045300.93237760
44Regulation of actin cytoskeleton_Homo sapiens_hsa048100.92976866
45Choline metabolism in cancer_Homo sapiens_hsa052310.92223218
46Acute myeloid leukemia_Homo sapiens_hsa052210.91738766
47Thyroid hormone signaling pathway_Homo sapiens_hsa049190.88843796
48Glycerophospholipid metabolism_Homo sapiens_hsa005640.88623493
49Insulin signaling pathway_Homo sapiens_hsa049100.88296023
50Central carbon metabolism in cancer_Homo sapiens_hsa052300.83027772
51PI3K-Akt signaling pathway_Homo sapiens_hsa041510.82807904
52ABC transporters_Homo sapiens_hsa020100.82217485
53Protein digestion and absorption_Homo sapiens_hsa049740.81740812
54Hepatitis C_Homo sapiens_hsa051600.81138563
55Vascular smooth muscle contraction_Homo sapiens_hsa042700.78774837
56Basal cell carcinoma_Homo sapiens_hsa052170.77121362
57Ras signaling pathway_Homo sapiens_hsa040140.76185055
58Chronic myeloid leukemia_Homo sapiens_hsa052200.75926997
59Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.72469510
60Estrogen signaling pathway_Homo sapiens_hsa049150.70358156
61Phenylalanine metabolism_Homo sapiens_hsa003600.70327296
62Hedgehog signaling pathway_Homo sapiens_hsa043400.69432473
63Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.68169454
64Neurotrophin signaling pathway_Homo sapiens_hsa047220.67894919
65Melanogenesis_Homo sapiens_hsa049160.67197206
66Endometrial cancer_Homo sapiens_hsa052130.64618082
67Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.63230861
68Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.62301058
69Endocytosis_Homo sapiens_hsa041440.61878526
70AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.60546420
71Platelet activation_Homo sapiens_hsa046110.59831580
72Sphingolipid signaling pathway_Homo sapiens_hsa040710.58803796
73Leukocyte transendothelial migration_Homo sapiens_hsa046700.57317571
74Retinol metabolism_Homo sapiens_hsa008300.55808954
75Pancreatic secretion_Homo sapiens_hsa049720.54988696
76Influenza A_Homo sapiens_hsa051640.54243785
77Serotonergic synapse_Homo sapiens_hsa047260.53721176
78Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.52421296
79Prostate cancer_Homo sapiens_hsa052150.51455826
80Glucagon signaling pathway_Homo sapiens_hsa049220.51376714
81Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.50879515
82TGF-beta signaling pathway_Homo sapiens_hsa043500.50819167
83Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.49090893
84Rap1 signaling pathway_Homo sapiens_hsa040150.48907814
85Phospholipase D signaling pathway_Homo sapiens_hsa040720.48855525
86Arginine biosynthesis_Homo sapiens_hsa002200.48852390
87Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.47949144
88TNF signaling pathway_Homo sapiens_hsa046680.47358218
89Gastric acid secretion_Homo sapiens_hsa049710.45085305
90Steroid biosynthesis_Homo sapiens_hsa001000.44405629
91Oxytocin signaling pathway_Homo sapiens_hsa049210.43631322
92Insulin resistance_Homo sapiens_hsa049310.42277254
93MAPK signaling pathway_Homo sapiens_hsa040100.40556740
94Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.39946027
95Non-small cell lung cancer_Homo sapiens_hsa052230.39244071
96Staphylococcus aureus infection_Homo sapiens_hsa051500.37966660
97FoxO signaling pathway_Homo sapiens_hsa040680.37617528
98Steroid hormone biosynthesis_Homo sapiens_hsa001400.36591187
99Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.36470702
100Jak-STAT signaling pathway_Homo sapiens_hsa046300.36321757

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