PKP1

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 arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This protein may be involved in molecular recruitment and stabilization during desmosome formation. Mutations in this gene have been associated with the ectodermal dysplasia/skin fragility syndrome. Two 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
1keratinocyte differentiation (GO:0030216)8.16488454
2peptide cross-linking (GO:0018149)7.85170301
3bundle of His cell to Purkinje myocyte communication (GO:0086069)7.82852472
4multicellular organismal water homeostasis (GO:0050891)7.70739042
5epidermis development (GO:0008544)6.54661193
6water homeostasis (GO:0030104)6.40051496
7epidermal cell differentiation (GO:0009913)6.36659122
8* intermediate filament organization (GO:0045109)6.04859413
9skin morphogenesis (GO:0043589)6.00194973
10keratinocyte proliferation (GO:0043616)5.94135121
11keratinocyte development (GO:0003334)5.66867330
12epithelial cell differentiation involved in prostate gland development (GO:0060742)5.53011044
13ectoderm development (GO:0007398)5.42659134
14polarized epithelial cell differentiation (GO:0030859)4.91192261
15gap junction assembly (GO:0016264)4.88221903
16surfactant homeostasis (GO:0043129)4.78441722
17cell-substrate junction assembly (GO:0007044)4.48654765
18negative regulation of keratinocyte proliferation (GO:0010839)4.41351990
19atrioventricular valve morphogenesis (GO:0003181)4.38337509
20virion attachment to host cell (GO:0019062)4.24881651
21adhesion of symbiont to host cell (GO:0044650)4.24881651
22negative regulation of cell fate specification (GO:0009996)4.20872432
23chemical homeostasis within a tissue (GO:0048875)4.09934974
24* intermediate filament cytoskeleton organization (GO:0045104)4.01941286
25skin development (GO:0043588)3.90677984
26* intermediate filament-based process (GO:0045103)3.90366952
27long-chain fatty acid biosynthetic process (GO:0042759)3.82989994
28positive regulation of keratinocyte differentiation (GO:0045618)3.82192871
29regulation of ruffle assembly (GO:1900027)3.77835851
30sphingoid metabolic process (GO:0046519)3.76359634
31regulation of Wnt signaling pathway involved in heart development (GO:0003307)3.65574420
32planar cell polarity pathway involved in neural tube closure (GO:0090179)3.63168259
33interferon-gamma secretion (GO:0072643)3.57467684
34sphingosine metabolic process (GO:0006670)3.43708205
35adhesion of symbiont to host (GO:0044406)3.41372496
36fatty acid elongation (GO:0030497)3.38717482
37regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.38002562
38intestinal epithelial cell development (GO:0060576)3.31914723
39epithelial cell-cell adhesion (GO:0090136)3.31032342
40regulation of cardioblast differentiation (GO:0051890)3.29422688
41hair follicle morphogenesis (GO:0031069)3.29082086
42positive regulation of epidermis development (GO:0045684)3.28476203
43establishment of planar polarity (GO:0001736)3.24905064
44establishment of tissue polarity (GO:0007164)3.24905064
45epithelium development (GO:0060429)3.24565316
46negative regulation of interferon-gamma production (GO:0032689)3.24147659
47negative regulation of cell fate commitment (GO:0010454)3.23877696
48regulation of phospholipase A2 activity (GO:0032429)3.22137181
49eyelid development in camera-type eye (GO:0061029)3.13700113
50plasma membrane repair (GO:0001778)3.12865898
51protein localization to endosome (GO:0036010)3.10536661
52detection of bacterium (GO:0016045)3.09218574
53glucosamine-containing compound catabolic process (GO:1901072)3.07582572
54diol metabolic process (GO:0034311)3.07560604
55ventricular cardiac muscle cell action potential (GO:0086005)3.07012380
56positive regulation of epidermal cell differentiation (GO:0045606)3.06577600
57regulation of chemokine secretion (GO:0090196)3.06277591
58negative regulation of epidermis development (GO:0045683)3.01453212
59regulation of hair follicle development (GO:0051797)3.01123313
60regulation of epidermis development (GO:0045682)2.98384672
61molting cycle process (GO:0022404)2.98130320
62hair cycle process (GO:0022405)2.98130320
63gland morphogenesis (GO:0022612)2.93639221
64regulation of endothelial cell chemotaxis (GO:2001026)2.92152092
65regulation of keratinocyte differentiation (GO:0045616)2.91818309
66regulation of keratinocyte proliferation (GO:0010837)2.89757781
67mitotic G1 DNA damage checkpoint (GO:0031571)2.85998812
68phosphatidylinositol acyl-chain remodeling (GO:0036149)2.81891717
69positive regulation of hair cycle (GO:0042635)2.79014028
70positive regulation of hair follicle development (GO:0051798)2.79014028
71regulation of natural killer cell differentiation (GO:0032823)2.78361510
72phosphatidylethanolamine acyl-chain remodeling (GO:0036152)2.77800689
73cytoskeletal anchoring at plasma membrane (GO:0007016)2.74885182
74response to phenylpropanoid (GO:0080184)2.73574804
75negative regulation of stress fiber assembly (GO:0051497)2.73143489
76heart valve morphogenesis (GO:0003179)2.73052517
77phosphatidylserine metabolic process (GO:0006658)2.72851859
78regulation of hair cycle (GO:0042634)2.72743737
79cardiac right ventricle morphogenesis (GO:0003215)2.72006295
80hair follicle development (GO:0001942)2.71776619
81morphogenesis of embryonic epithelium (GO:0016331)2.70908116
82positive regulation of interleukin-8 secretion (GO:2000484)2.70753782
83linoleic acid metabolic process (GO:0043651)2.70655259
84prostate gland epithelium morphogenesis (GO:0060740)2.69449571
85regulation of cell fate specification (GO:0042659)2.69356884
86epithelial cell proliferation (GO:0050673)2.68210672
87cell junction assembly (GO:0034329)2.66334737
88non-canonical Wnt signaling pathway (GO:0035567)2.63840940
89phosphatidylserine acyl-chain remodeling (GO:0036150)2.62975684
90detection of other organism (GO:0098543)2.61344676
91G1 DNA damage checkpoint (GO:0044783)2.60377181
92odontogenesis (GO:0042476)2.60034420
93phosphatidylglycerol acyl-chain remodeling (GO:0036148)2.59789824
94phosphatidylcholine acyl-chain remodeling (GO:0036151)2.59022454
95cell surface receptor signaling pathway involved in heart development (GO:0061311)2.58122519
96mitotic G1/S transition checkpoint (GO:0044819)2.57929521
97regulation of epidermal cell differentiation (GO:0045604)2.57040689
98odontogenesis of dentin-containing tooth (GO:0042475)2.54099443
99cardiac conduction (GO:0061337)2.53451892
100lipoxygenase pathway (GO:0019372)2.52116968
101regulation of cell proliferation involved in kidney development (GO:1901722)2.50764637
102endosome organization (GO:0007032)2.50559747
103regulation of heart rate by cardiac conduction (GO:0086091)2.48322091
104wound healing (GO:0042060)2.47995364
105endothelial cell chemotaxis (GO:0035767)2.47615847
106positive regulation of monocyte chemotaxis (GO:0090026)2.45693373
107regulation of establishment of planar polarity (GO:0090175)2.44239249
108regulation of transforming growth factor beta2 production (GO:0032909)2.43891071
109viral transcription (GO:0019083)2.38883533
110dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.38792332
111hypotonic response (GO:0006971)2.38077209
112mesodermal cell differentiation (GO:0048333)2.37687604
113epithelial cell fate commitment (GO:0072148)2.37374319
114cell communication involved in cardiac conduction (GO:0086065)2.37257534
115negative regulation of chondrocyte differentiation (GO:0032331)2.36113260
116oocyte development (GO:0048599)2.35771034
117ephrin receptor signaling pathway (GO:0048013)2.33825013
118cell adhesion mediated by integrin (GO:0033627)2.33789844
119lateral sprouting from an epithelium (GO:0060601)2.33720160
120regulation of glomerular filtration (GO:0003093)2.32641387
121G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071992.32525206
122negative regulation of axon extension involved in axon guidance (GO:0048843)2.29237132
123cell junction organization (GO:0034330)2.29056895
124long-chain fatty-acyl-CoA metabolic process (GO:0035336)2.23520072
125Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.23286341
126regulation of interleukin-8 secretion (GO:2000482)2.22715817
127translational termination (GO:0006415)2.21963712
128desmosome organization (GO:0002934)15.2701194
129keratinization (GO:0031424)14.6652179
130hair cycle (GO:0042633)13.1997955
131molting cycle (GO:0042303)13.1997955
132hemidesmosome assembly (GO:0031581)13.0355597
133establishment of skin barrier (GO:0061436)12.6226281
134regulation of water loss via skin (GO:0033561)11.5027447

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse4.94766459
2P63_26484246_Chip-Seq_KERATINOCYTES_Human2.97032687
3SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.61226814
4* SOX9_24532713_ChIP-Seq_HFSC_Mouse2.60775942
5ZNF263_19887448_ChIP-Seq_K562_Human2.60682137
6ESR1_21235772_ChIP-Seq_MCF-7_Human2.41044888
7TRIM28_21343339_ChIP-Seq_HEK293_Human2.19458620
8* SMAD2_18955504_ChIP-ChIP_HaCaT_Human2.03917069
9* SMAD3_18955504_ChIP-ChIP_HaCaT_Human2.03917069
10ESR2_21235772_ChIP-Seq_MCF-7_Human2.02244312
11TP63_17297297_ChIP-ChIP_HaCaT_Human16.7126793
12STAT6_21828071_ChIP-Seq_BEAS2B_Human1.89778158
13FOXO3_23340844_ChIP-Seq_DLD1_Human1.80082137
14CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.73570902
15RARG_19884340_ChIP-ChIP_MEFs_Mouse1.56144606
16ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.49231212
17CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.46834708
18TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.42095303
19KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.37611758
20HIF1A_21447827_ChIP-Seq_MCF-7_Human1.37488879
21SOX2_20726797_ChIP-Seq_SW620_Human1.37330929
22* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.34984575
23PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.34087792
24RUNX1_27514584_Chip-Seq_MCF-7_Human1.33365088
25* RACK7_27058665_Chip-Seq_MCF-7_Human1.32411100
26* TP63_23658742_ChIP-Seq_EP156T_Human1.29626898
27KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.28267542
28* KLF5_25053715_ChIP-Seq_YYC3_Human1.27831102
29AR_21572438_ChIP-Seq_LNCaP_Human1.26470187
30* CJUN_26792858_Chip-Seq_BT549_Human1.25949181
31* TP63_22573176_ChIP-Seq_HFKS_Human1.25281165
32ATF3_27146783_Chip-Seq_COLON_Human1.24430218
33NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.19299227
34UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.17473008
35* ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.14194017
36TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.12452228
37RXR_22108803_ChIP-Seq_LS180_Human1.10448093
38AHR_22903824_ChIP-Seq_MCF-7_Human1.10118860
39* UBF1/2_26484160_Chip-Seq_HMECs_Human1.08772865
40* TCF4_18268006_ChIP-ChIP_LS174T_Human1.05698449
41TP53_18474530_ChIP-ChIP_U2OS_Human1.05430945
42* TP53_20018659_ChIP-ChIP_R1E_Mouse1.03506365
43EGR1_19032775_ChIP-ChIP_M12_Human1.03418553
44TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.01597500
45* GATA3_24758297_ChIP-Seq_MCF-7_Human0.98892516
46CTCF_27219007_Chip-Seq_Bcells_Human0.94955032
47FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.94411922
48GATA6_25053715_ChIP-Seq_YYC3_Human0.94378704
49GATA4_25053715_ChIP-Seq_YYC3_Human0.94285202
50PPAR_26484153_Chip-Seq_NCI-H1993_Human0.92736937
51* CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.92691971
52PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.92123289
53CDX2_20551321_ChIP-Seq_CACO-2_Human0.91403939
54* GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.90320647
55* LXR_22292898_ChIP-Seq_THP-1_Human0.89245710
56SMC4_20622854_ChIP-Seq_HELA_Human0.89001394
57* SUZ12_27294783_Chip-Seq_ESCs_Mouse0.87700996
58* BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.87272878
59JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.87215425
60JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.86765635
61P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.86290677
62DNAJC2_21179169_ChIP-ChIP_NT2_Human0.84353218
63ESR1_20079471_ChIP-ChIP_T-47D_Human0.83652959
64CTCF_20526341_ChIP-Seq_ESCs_Human0.82423008
65SA1_27219007_Chip-Seq_ERYTHROID_Human0.82177735
66ARNT_22903824_ChIP-Seq_MCF-7_Human0.81949099
67CLOCK_20551151_ChIP-Seq_293T_Human0.81659992
68STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.81055064
69SOX2_27498859_Chip-Seq_STOMACH_Mouse0.78975638
70KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.78369383
71WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.77677562
72RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.77203195
73KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.76950976
74KDM2B_26808549_Chip-Seq_K562_Human0.76720008
75P300_27058665_Chip-Seq_ZR-75-30cells_Human0.76671822
76CEBPB_22108803_ChIP-Seq_LS180_Human0.75743178
77TP53_16413492_ChIP-PET_HCT116_Human0.74493899
78RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.74375720
79EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.74282898
80ELK3_25401928_ChIP-Seq_HUVEC_Human0.74140495
81ERG_21242973_ChIP-ChIP_JURKAT_Human0.73782177
82* GATA6_21074721_ChIP-Seq_CACO-2_Human0.73396833
83HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.72364445
84SRY_22984422_ChIP-ChIP_TESTIS_Rat0.72335131
85* SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.72006053
86AR_21909140_ChIP-Seq_LNCAP_Human0.71535489
87* TET1_21490601_ChIP-Seq_MESCs_Mouse0.70076912
88EZH2_27294783_Chip-Seq_ESCs_Mouse0.68237640
89CREB1_26743006_Chip-Seq_LNCaP_Human0.66543515
90* JARID2_20075857_ChIP-Seq_MESCs_Mouse0.66348858
91BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.65847523
92E2F1_20622854_ChIP-Seq_HELA_Human0.65797589
93BCOR_27268052_Chip-Seq_Bcells_Human0.65223424
94BCAT_22108803_ChIP-Seq_LS180_Human0.64802616
95CHD1_26751641_Chip-Seq_LNCaP_Human0.64558413
96SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.64399220
97NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.64056322
98* ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.63970540
99FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.63920968
100GATA2_21666600_ChIP-Seq_HMVEC_Human0.62953632
101TBX20_22080862_ChIP-Seq_HEART_Mouse0.62345780
102TBX20_22328084_ChIP-Seq_HEART_Mouse0.62345780
103P68_20966046_ChIP-Seq_HELA_Human0.61726517
104CSB_26484114_Chip-Seq_FIBROBLAST_Human0.61537676
105TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.61150094
106* RNF2_27304074_Chip-Seq_ESCs_Mouse0.61041895
107YY1_22570637_ChIP-Seq_MALME-3M_Human0.60604184
108THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.59865794
109CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.59583842
110* FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.59258415
111ELK4_26923725_Chip-Seq_MESODERM_Mouse0.58590920
112* AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.57561108
113KDM2B_26808549_Chip-Seq_JURKAT_Human0.57545387
114NANOG_20526341_ChIP-Seq_ESCs_Human0.57511427
115EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.56890328
116KDM2B_26808549_Chip-Seq_SUP-B15_Human0.56862159
117ERG_20517297_ChIP-Seq_VCAP_Human0.56395911
118FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.56163515
119ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.55484235
120* EZH2_27304074_Chip-Seq_ESCs_Mouse0.54820502
121* SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.54353370

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002796_impaired_skin_barrier7.10827414
2MP0005275_abnormal_skin_tensile6.08779652
3MP0000579_abnormal_nail_morphology5.78026048
4MP0010234_abnormal_vibrissa_follicle5.10544526
5MP0005501_abnormal_skin_physiology4.46955743
6MP0002254_reproductive_system_inflammat4.03379611
7MP0000383_abnormal_hair_follicle3.66731966
8MP0002060_abnormal_skin_morphology3.45972545
9MP0010678_abnormal_skin_adnexa3.42903721
10MP0004381_abnormal_hair_follicle3.39289305
11MP0001216_abnormal_epidermal_layer3.37477928
12MP0003941_abnormal_skin_development3.26649450
13MP0002098_abnormal_vibrissa_morphology3.25915753
14MP0000467_abnormal_esophagus_morphology3.13699617
15MP0003705_abnormal_hypodermis_morpholog3.04736112
16MP0000647_abnormal_sebaceous_gland3.00112211
17MP0003453_abnormal_keratinocyte_physiol2.94962626
18MP0010771_integument_phenotype2.91541416
19MP0000377_abnormal_hair_follicle2.63949217
20MP0000762_abnormal_tongue_morphology2.48391283
21MP0000427_abnormal_hair_cycle2.39565415
22MP0004947_skin_inflammation2.37016689
23MP0003566_abnormal_cell_adhesion2.04447324
24MP0002234_abnormal_pharynx_morphology1.86658779
25MP0001346_abnormal_lacrimal_gland1.77238959
26MP0000566_synostosis1.71848009
27MP0009931_abnormal_skin_appearance1.70544570
28MP0001243_abnormal_dermal_layer1.60304546
29MP0004885_abnormal_endolymph1.59531847
30MP0001849_ear_inflammation1.49753350
31MP0001191_abnormal_skin_condition1.49743532
32MP0009379_abnormal_foot_pigmentation1.44384426
33MP0000367_abnormal_coat/_hair1.44334133
34MP0005451_abnormal_body_composition1.33650679
35MP0005409_darkened_coat_color1.27570948
36MP0001851_eye_inflammation1.23591120
37MP0004185_abnormal_adipocyte_glucose1.23154321
38MP0003878_abnormal_ear_physiology1.20807607
39MP0005377_hearing/vestibular/ear_phenot1.20807607
40MP0009053_abnormal_anal_canal1.17847868
41MP0009780_abnormal_chondrocyte_physiolo1.11781983
42MP0010030_abnormal_orbit_morphology1.08090622
43MP0010352_gastrointestinal_tract_polyps1.05310187
44MP0005023_abnormal_wound_healing1.04756483
45MP0001340_abnormal_eyelid_morphology0.94546791
46MP0002009_preneoplasia0.90454515
47MP0002877_abnormal_melanocyte_morpholog0.87723808
48MP0008438_abnormal_cutaneous_collagen0.85477930
49MP0008260_abnormal_autophagy0.84688063
50MP0003755_abnormal_palate_morphology0.78084464
51MP0005257_abnormal_intraocular_pressure0.77781695
52MP0002282_abnormal_trachea_morphology0.77707545
53MP0004272_abnormal_basement_membrane0.77567052
54MP0000627_abnormal_mammary_gland0.76760158
55MP0000465_gastrointestinal_hemorrhage0.76664413
56MP0000538_abnormal_urinary_bladder0.72094940
57MP0005075_abnormal_melanosome_morpholog0.71597494
58MP0002177_abnormal_outer_ear0.71334394
59MP0008789_abnormal_olfactory_epithelium0.69544496
60MP0000015_abnormal_ear_pigmentation0.68647013
61MP0000537_abnormal_urethra_morphology0.68178559
62MP0002095_abnormal_skin_pigmentation0.67658018
63MP0003191_abnormal_cellular_cholesterol0.64555698
64MP0004264_abnormal_extraembryonic_tissu0.62241956
65MP0005076_abnormal_cell_differentiation0.60801746
66MP0003315_abnormal_perineum_morphology0.59364387
67MP0004858_abnormal_nervous_system0.57847217
68MP0001784_abnormal_fluid_regulation0.57201795
69MP0002249_abnormal_larynx_morphology0.56264469
70MP0002233_abnormal_nose_morphology0.55155910
71MP0002111_abnormal_tail_morphology0.54012840
72MP0009384_cardiac_valve_regurgitation0.49616177
73MP0000858_altered_metastatic_potential0.48351048
74MP0001188_hyperpigmentation0.46743293
75MP0005248_abnormal_Harderian_gland0.45523358
76MP0005174_abnormal_tail_pigmentation0.44396343
77MP0002006_tumorigenesis0.43927816
78MP0002166_altered_tumor_susceptibility0.42612451
79MP0000516_abnormal_urinary_system0.42607661
80MP0005367_renal/urinary_system_phenotyp0.42607661
81MP0005499_abnormal_olfactory_system0.42552438
82MP0005394_taste/olfaction_phenotype0.42552438
83MP0003385_abnormal_body_wall0.42453591
84MP0000613_abnormal_salivary_gland0.42368194
85MP0005508_abnormal_skeleton_morphology0.41860150
86MP0004782_abnormal_surfactant_physiolog0.40379469
87MP0000432_abnormal_head_morphology0.39559959
88MP0000470_abnormal_stomach_morphology0.38723761
89MP0003011_delayed_dark_adaptation0.37593041
90MP0001299_abnormal_eye_distance/0.36674475
91MP0003950_abnormal_plasma_membrane0.36654559
92MP0003763_abnormal_thymus_physiology0.35414806
93MP0002896_abnormal_bone_mineralization0.34927330
94MP0009250_abnormal_appendicular_skeleto0.33498103
95MP0004197_abnormal_fetal_growth/weight/0.32269994
96MP0003045_fibrosis0.31437001
97MP0006138_congestive_heart_failure0.31343110
98MP0003638_abnormal_response/metabolism_0.30448873
99MP0002089_abnormal_postnatal_growth/wei0.30448140
100MP0001958_emphysema0.30366213
101MP0000750_abnormal_muscle_regeneration0.30331966
102MP0005193_abnormal_anterior_eye0.30155480
103MP0006054_spinal_hemorrhage0.29717544
104MP0005666_abnormal_adipose_tissue0.29630636
105MP0003300_gastrointestinal_ulcer0.29354135
106MP0000733_abnormal_muscle_development0.29344447
107MP0003828_pulmonary_edema0.29005868
108MP0001186_pigmentation_phenotype0.26704236
109MP0005375_adipose_tissue_phenotype0.26596560
110MP0005503_abnormal_tendon_morphology0.26343000
111MP0002697_abnormal_eye_size0.26199505
112MP0005388_respiratory_system_phenotype0.25694130
113MP0002133_abnormal_respiratory_system0.25694130
114MP0000462_abnormal_digestive_system0.25301152
115MP0002109_abnormal_limb_morphology0.25213401
116MP0003448_altered_tumor_morphology0.23614390
117MP0000678_abnormal_parathyroid_gland0.23334910
118MP0004019_abnormal_vitamin_homeostasis0.23230659
119MP0003937_abnormal_limbs/digits/tail_de0.22512924
120MP0003935_abnormal_craniofacial_develop0.22407912
121MP0008004_abnormal_stomach_pH0.21735833
122MP0000003_abnormal_adipose_tissue0.21571896
123MP0005197_abnormal_uvea_morphology0.20373915
124MP0003436_decreased_susceptibility_to0.19922716

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of nail color (HP:0100643)7.95914936
2Plantar hyperkeratosis (HP:0007556)7.76704758
3Onycholysis (HP:0001806)7.65984534
4Hypotrichosis (HP:0001006)7.63556933
5Milia (HP:0001056)7.40475497
6Fragile nails (HP:0001808)7.11312008
7Palmoplantar hyperkeratosis (HP:0000972)6.86239970
8Increased IgE level (HP:0003212)6.69176502
9Thick nail (HP:0001805)6.62691010
10Palmar hyperkeratosis (HP:0010765)6.48375219
11Right ventricular cardiomyopathy (HP:0011663)6.12782699
12Pili torti (HP:0003777)5.84315879
13* Woolly hair (HP:0002224)5.44762325
14Nail dystrophy (HP:0008404)5.06710802
15Alopecia of scalp (HP:0002293)5.00453928
16Atrophic scars (HP:0001075)4.97771894
17Congenital ichthyosiform erythroderma (HP:0007431)4.69695402
18* Abnormal blistering of the skin (HP:0008066)4.49999990
19Erythema (HP:0010783)4.44958730
20Erythroderma (HP:0001019)4.26559697
21Conjunctival hamartoma (HP:0100780)4.03569232
22Lip pit (HP:0100267)3.99187219
23Congenital nonbullous ichthyosiform erythroderma (HP:0007479)3.71516444
24Follicular hyperkeratosis (HP:0007502)3.71202667
25Absent eyelashes (HP:0000561)3.68517073
26Parakeratosis (HP:0001036)3.64374207
27Abnormal hair laboratory examination (HP:0003328)3.62018385
28Ridged nail (HP:0001807)3.61800056
29Oral leukoplakia (HP:0002745)3.52768683
30Ectropion (HP:0000656)3.31918229
31Natal tooth (HP:0000695)3.26889514
32Advanced eruption of teeth (HP:0006288)3.18250306
33Sparse eyelashes (HP:0000653)3.15915928
34Aplasia cutis congenita (HP:0001057)3.13696093
35Fatigable weakness (HP:0003473)3.11161967
36Abnormality of the neuromuscular junction (HP:0003398)3.11161967
37Fragile skin (HP:0001030)3.02992717
38Curly hair (HP:0002212)2.98408547
39Corneal erosion (HP:0200020)2.96447320
40Hypohidrosis (HP:0000966)2.87985527
41* Palmoplantar keratoderma (HP:0000982)2.87851747
42Ventricular tachycardia (HP:0004756)2.85160869
43Selective tooth agenesis (HP:0001592)2.77057275
44Absent hair (HP:0002298)2.76407982
45Amniotic constriction ring (HP:0009775)2.75251184
46Abnormality of placental membranes (HP:0011409)2.75251184
47Gangrene (HP:0100758)2.68070036
48Increased connective tissue (HP:0009025)2.67380948
49Sparse scalp hair (HP:0002209)2.62310586
50Hyporeflexia of lower limbs (HP:0002600)2.58553904
51Distal lower limb muscle weakness (HP:0009053)2.53967723
52Hamartoma of the eye (HP:0010568)2.52356446
53Acanthosis nigricans (HP:0000956)2.47013207
54Anonychia (HP:0001798)2.41003879
55Pterygium (HP:0001059)2.37344472
56Hypoplasia of dental enamel (HP:0006297)2.35978704
57Brittle hair (HP:0002299)2.31665230
58Laryngomalacia (HP:0001601)2.28441924
59Hyperhidrosis (HP:0000975)2.24903547
60Type 1 muscle fiber predominance (HP:0003803)2.23627263
61Popliteal pterygium (HP:0009756)2.18914517
62Amelogenesis imperfecta (HP:0000705)2.18726226
63Ankyloglossia (HP:0010296)2.16232633
64Xerostomia (HP:0000217)2.06201767
65Abnormality of the gastric mucosa (HP:0004295)2.05881012
66* Pruritus (HP:0000989)2.02845957
67Esophageal atresia (HP:0002032)2.01756853
68Corneal dystrophy (HP:0001131)2.01395353
69* Blepharitis (HP:0000498)1.97875396
70Septate vagina (HP:0001153)1.97747794
71Round ear (HP:0100830)1.97321194
72Abnormality of secondary sexual hair (HP:0009888)1.92466628
73Abnormality of the axillary hair (HP:0100134)1.92466628
74Hypergammaglobulinemia (HP:0010702)1.91220979
75Nasolacrimal duct obstruction (HP:0000579)1.90134887
76Abnormality of the dental root (HP:0006486)1.89222434
77Taurodontia (HP:0000679)1.89222434
78Abnormality of permanent molar morphology (HP:0011071)1.89222434
79Split foot (HP:0001839)1.88360523
80Abnormality of the fingernails (HP:0001231)1.86819791
81Carious teeth (HP:0000670)1.84753945
82Multifactorial inheritance (HP:0001426)1.83675299
83Congenital, generalized hypertrichosis (HP:0004540)1.82004970
84Breast hypoplasia (HP:0003187)1.81985803
85Ventricular fibrillation (HP:0001663)1.81972349
86Slow-growing hair (HP:0002217)1.81519954
87Abnormality of hair growth rate (HP:0011363)1.81519954
88Duplicated collecting system (HP:0000081)1.81376107
89Abnormality of molar morphology (HP:0011070)1.76958040
90Abnormality of molar (HP:0011077)1.76958040
91Melanocytic nevus (HP:0000995)1.76837052
92Conical tooth (HP:0000698)1.76444249
93Autoamputation (HP:0001218)1.73760177
94Neonatal death (HP:0003811)1.72437902
95Abnormality of the salivary glands (HP:0010286)1.71776203
96Dehydration (HP:0001944)1.70361304
97* Skin ulcer (HP:0200042)1.68505531
98Recurrent corneal erosions (HP:0000495)1.67332302
99Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)1.65161947
100Premature rupture of membranes (HP:0001788)1.64522253
101Concave nail (HP:0001598)1.64360564
102Distal arthrogryposis (HP:0005684)1.64205840
103Abnormality of the dental pulp (HP:0006479)1.64197237
104Muscle fiber inclusion bodies (HP:0100299)1.63416004
105Lack of skin elasticity (HP:0100679)1.62846233
106Abnormality of oral frenula (HP:0000190)1.62243498
107Fine hair (HP:0002213)1.61961911
108Down-sloping shoulders (HP:0200021)1.61518819
109Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173)1.61163553
110Achilles tendon contracture (HP:0001771)1.60605011
111Myopathic facies (HP:0002058)1.60266820
112Distal lower limb amyotrophy (HP:0008944)1.60048823
113Nemaline bodies (HP:0003798)1.58355905
114Hypodontia (HP:0000668)1.57593003
115Labial hypoplasia (HP:0000066)1.57340694
116Dry hair (HP:0011359)1.55054786
117Aplasia involving bones of the extremities (HP:0009825)1.52380518
118Aplasia involving bones of the upper limbs (HP:0009823)1.52380518
119Aplasia of the phalanges of the hand (HP:0009802)1.52380518
120Depressed nasal tip (HP:0000437)1.52092366
121Squamous cell carcinoma (HP:0002860)1.50268870
122Hypoplastic labia majora (HP:0000059)1.49691719
123Ureteral stenosis (HP:0000071)1.49388328
124Malignant hyperthermia (HP:0002047)1.48225689
125Trismus (HP:0000211)1.47552354
126Sudden death (HP:0001699)1.45507323
127Abnormality of the Achilles tendon (HP:0005109)1.42707158
128Skin pits (HP:0100276)1.39872083
129Abnormality of the labia majora (HP:0012881)1.39706381
130Oligodontia (HP:0000677)1.39251513
131Eczematoid dermatitis (HP:0000976)1.38544613

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MST1R4.44444593
2MAPKAPK34.27468728
3FER4.18585072
4EPHA23.84287999
5MAP3K33.69626071
6LATS12.89459238
7EPHB22.58937346
8MST42.57529261
9ERN12.52604118
10MAP3K22.36011957
11RPS6KB22.33981490
12EPHA32.32647267
13EPHB12.11048672
14TTN2.07669479
15CDK121.96527105
16PIK3CG1.92066380
17TRIB31.91967161
18TRPM71.88191017
19ARAF1.76755565
20SMG11.65557191
21NTRK11.64954267
22NME11.60915340
23MET1.60490802
24EEF2K1.60062087
25TAOK11.59493148
26PIM21.56910504
27FGFR41.56237522
28PTK61.48209051
29RIPK11.43408604
30STK241.39971497
31LRRK21.33946735
32FGFR11.31609960
33BCR1.29827870
34MAP3K111.29011763
35PRPF4B1.27873800
36LMTK21.24968005
37FGFR21.22338540
38ERBB31.20527264
39MAP3K11.17911647
40FGFR31.16214970
41MAP2K61.14725447
42TESK11.13707827
43MAPKAPK51.13118089
44RPS6KA41.10754421
45STK101.07622335
46LATS21.03450052
47PRKD21.02247364
48PTK21.01056586
49CDK61.00686554
50DYRK1B0.99830411
51SIK10.99555694
52MAPKAPK20.96599614
53OBSCN0.92871216
54TGFBR20.92324239
55MAP3K70.87193347
56BLK0.87000368
57SGK2230.80506047
58SGK4940.80506047
59BMX0.80291888
60ICK0.78047832
61DMPK0.77933922
62PAK40.77336913
63MAP3K60.75878379
64ERBB20.73406145
65DDR20.73048110
66MARK20.70515058
67MAP2K30.67845218
68GRK60.67794910
69KSR20.67572782
70CAMK1D0.66984436
71MAP3K90.66643172
72MAPK70.65701534
73TYK20.65081659
74FLT30.64413860
75CDC42BPA0.64295207
76PDGFRB0.62692749
77PBK0.61533009
78MAP2K10.60997694
79STK30.60502740
80PRKD10.60440777
81MAPK150.60253025
82STK380.59932559
83RPS6KB10.59547328
84MAP2K20.58446615
85PKN20.57746657
86RPS6KA10.55969878
87IKBKB0.53788381
88NLK0.53323816
89PRKCI0.52679593
90IRAK30.51788283
91PDGFRA0.47754872
92MAP3K130.47210123
93LIMK10.46912064
94NEK60.46714640
95CAMK1G0.46512154
96STK38L0.44735558
97NTRK20.43491433
98ILK0.43474574
99MAP3K140.43188776
100MATK0.40422169
101BRD40.39859798
102PRKD30.36942930
103BMPR1B0.35011196
104PAK20.34039013
105WNK10.33430229
106FGR0.32052691
107ROCK10.31910899
108CHUK0.31349912
109JAK30.29855007
110GSK3A0.29550880
111RAF10.28337404
112RET0.27803026
113SGK30.27734509
114HIPK20.27492098
115JAK20.27131209
116JAK10.26863147
117HCK0.26285939
118IRAK10.25047098
119MOS0.24938338
120IKBKE0.24486647
121ITK0.24188367
122ROCK20.24151802
123SGK10.23594749
124TGFBR10.23482276
125RPS6KA20.22343936
126BRAF0.22187344
127SRC0.21545425
128TYRO30.20633671
129MAPK110.20190861
130PRKAA20.19880328
131MAPK120.19274549
132MAP3K50.19273928
133MTOR0.18223920
134RPS6KC10.17452780
135RPS6KL10.17452780
136TAOK20.16695614
137MAPK90.16481563

Predicted pathways (KEGG)

RankGene SetZ-score
1ECM-receptor interaction_Homo sapiens_hsa045122.84526893
2Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.71201072
3Linoleic acid metabolism_Homo sapiens_hsa005912.69981981
4alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.66961087
5Basal cell carcinoma_Homo sapiens_hsa052172.57384706
6Phenylalanine metabolism_Homo sapiens_hsa003602.12605276
7Arachidonic acid metabolism_Homo sapiens_hsa005902.09389202
8Adherens junction_Homo sapiens_hsa045201.99416353
9Cyanoamino acid metabolism_Homo sapiens_hsa004601.98087754
10Sphingolipid metabolism_Homo sapiens_hsa006001.96889255
11Hedgehog signaling pathway_Homo sapiens_hsa043401.74669597
12Proteoglycans in cancer_Homo sapiens_hsa052051.73743322
13Fatty acid elongation_Homo sapiens_hsa000621.73507561
14Amoebiasis_Homo sapiens_hsa051461.72351723
15Histidine metabolism_Homo sapiens_hsa003401.71846319
16Hippo signaling pathway_Homo sapiens_hsa043901.69252617
17Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.68669593
18Bladder cancer_Homo sapiens_hsa052191.66385805
19Tight junction_Homo sapiens_hsa045301.60040478
20VEGF signaling pathway_Homo sapiens_hsa043701.56841426
21Ribosome_Homo sapiens_hsa030101.52380100
22Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.52101772
23Axon guidance_Homo sapiens_hsa043601.47284492
24Toxoplasmosis_Homo sapiens_hsa051451.46225095
25Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.44413994
26Ovarian steroidogenesis_Homo sapiens_hsa049131.41960969
27Small cell lung cancer_Homo sapiens_hsa052221.41625187
28Ether lipid metabolism_Homo sapiens_hsa005651.41590130
29Focal adhesion_Homo sapiens_hsa045101.36487177
30Melanogenesis_Homo sapiens_hsa049161.27823347
31Fat digestion and absorption_Homo sapiens_hsa049751.24608103
32GnRH signaling pathway_Homo sapiens_hsa049121.20506068
33MicroRNAs in cancer_Homo sapiens_hsa052061.19246944
34Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.18763008
35Protein digestion and absorption_Homo sapiens_hsa049741.16423935
36Leukocyte transendothelial migration_Homo sapiens_hsa046701.15695708
37p53 signaling pathway_Homo sapiens_hsa041151.15279183
38Phosphatidylinositol signaling system_Homo sapiens_hsa040701.14048092
39Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.14044944
40Acute myeloid leukemia_Homo sapiens_hsa052211.13376969
41Caffeine metabolism_Homo sapiens_hsa002321.12939480
42Glycerophospholipid metabolism_Homo sapiens_hsa005641.12849655
43Choline metabolism in cancer_Homo sapiens_hsa052311.12103297
44Thyroid cancer_Homo sapiens_hsa052161.08997949
45Thyroid hormone signaling pathway_Homo sapiens_hsa049191.03548509
46Chemical carcinogenesis_Homo sapiens_hsa052041.03215217
47Notch signaling pathway_Homo sapiens_hsa043301.02594891
48Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.98844948
49Retinol metabolism_Homo sapiens_hsa008300.98145675
50Tyrosine metabolism_Homo sapiens_hsa003500.96086078
51Dorso-ventral axis formation_Homo sapiens_hsa043200.95581080
52Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.95416935
53Wnt signaling pathway_Homo sapiens_hsa043100.94125514
54Insulin signaling pathway_Homo sapiens_hsa049100.92833833
55TGF-beta signaling pathway_Homo sapiens_hsa043500.92355392
56AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.91162059
57Circadian rhythm_Homo sapiens_hsa047100.88526405
58Endometrial cancer_Homo sapiens_hsa052130.87195995
59Inositol phosphate metabolism_Homo sapiens_hsa005620.86712590
60Sphingolipid signaling pathway_Homo sapiens_hsa040710.86468031
61Hepatitis C_Homo sapiens_hsa051600.83710793
62Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.83697137
63Pathways in cancer_Homo sapiens_hsa052000.83685781
64Dilated cardiomyopathy_Homo sapiens_hsa054140.82574785
65Pancreatic secretion_Homo sapiens_hsa049720.81412021
66Pertussis_Homo sapiens_hsa051330.77588797
67Ras signaling pathway_Homo sapiens_hsa040140.76871809
68Regulation of actin cytoskeleton_Homo sapiens_hsa048100.75818859
69Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.75699961
70Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.75007313
71Phospholipase D signaling pathway_Homo sapiens_hsa040720.74638626
72Platelet activation_Homo sapiens_hsa046110.74588432
73Neurotrophin signaling pathway_Homo sapiens_hsa047220.73719054
74Renin secretion_Homo sapiens_hsa049240.73204196
75Prion diseases_Homo sapiens_hsa050200.73072628
76Rap1 signaling pathway_Homo sapiens_hsa040150.71243184
77Endocytosis_Homo sapiens_hsa041440.71135299
78Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.70608496
79Jak-STAT signaling pathway_Homo sapiens_hsa046300.70260363
80Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.70179385
81ErbB signaling pathway_Homo sapiens_hsa040120.69416331
82Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.69196994
83Salivary secretion_Homo sapiens_hsa049700.68872416
84TNF signaling pathway_Homo sapiens_hsa046680.68243498
85Melanoma_Homo sapiens_hsa052180.67322272
86Steroid biosynthesis_Homo sapiens_hsa001000.66403574
87Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.66005355
88Gastric acid secretion_Homo sapiens_hsa049710.64700179
89Vascular smooth muscle contraction_Homo sapiens_hsa042700.64229107
90Staphylococcus aureus infection_Homo sapiens_hsa051500.64072363
91Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.62995312
92Glioma_Homo sapiens_hsa052140.62873496
93Vitamin digestion and absorption_Homo sapiens_hsa049770.62642783
94Insulin resistance_Homo sapiens_hsa049310.62218437
95Estrogen signaling pathway_Homo sapiens_hsa049150.62006392
96Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.61898936
97Fatty acid biosynthesis_Homo sapiens_hsa000610.61184338
98Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.59462304
99Serotonergic synapse_Homo sapiens_hsa047260.55233174
100PI3K-Akt signaling pathway_Homo sapiens_hsa041510.54693232
101Long-term depression_Homo sapiens_hsa047300.54309884
102Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.53599318
103PPAR signaling pathway_Homo sapiens_hsa033200.53116958
104Phototransduction_Homo sapiens_hsa047440.52514454
105Glucagon signaling pathway_Homo sapiens_hsa049220.52042346
106Salmonella infection_Homo sapiens_hsa051320.51874547
107Mineral absorption_Homo sapiens_hsa049780.51037788
108Pancreatic cancer_Homo sapiens_hsa052120.51006169
109Glycerolipid metabolism_Homo sapiens_hsa005610.50926948
110Renal cell carcinoma_Homo sapiens_hsa052110.50594497
111Apoptosis_Homo sapiens_hsa042100.50513201
112Long-term potentiation_Homo sapiens_hsa047200.50091269
113Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.49326311
114beta-Alanine metabolism_Homo sapiens_hsa004100.48796851
115Prolactin signaling pathway_Homo sapiens_hsa049170.48183703
116Prostate cancer_Homo sapiens_hsa052150.48077487
117Adipocytokine signaling pathway_Homo sapiens_hsa049200.47351958
118Central carbon metabolism in cancer_Homo sapiens_hsa052300.46318559
119Shigellosis_Homo sapiens_hsa051310.45816998
120Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.45125033
121Osteoclast differentiation_Homo sapiens_hsa043800.43888378
122Chronic myeloid leukemia_Homo sapiens_hsa052200.43495521
123Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.43328292
124Non-small cell lung cancer_Homo sapiens_hsa052230.42742865
125HTLV-I infection_Homo sapiens_hsa051660.41856602
126AMPK signaling pathway_Homo sapiens_hsa041520.40231351
127mTOR signaling pathway_Homo sapiens_hsa041500.37849252

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