EPPK1

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 belongs to the plakin family of proteins, which play a role in the organization of cytoskeletal architecture. This family member is composed of several highly homologous plakin repeats. It may function to maintain the integrity of keratin intermediate filament networks in epithelial cells. Studies of the orthologous mouse protein suggest that it accelerates keratinocyte migration during wound healing. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1establishment of skin barrier (GO:0061436)9.63133291
2regulation of water loss via skin (GO:0033561)9.03962355
3bundle of His cell to Purkinje myocyte communication (GO:0086069)8.23231445
4hemidesmosome assembly (GO:0031581)7.24493637
5keratinization (GO:0031424)6.14700091
6multicellular organismal water homeostasis (GO:0050891)5.99056249
7polarized epithelial cell differentiation (GO:0030859)5.58716401
8keratinocyte development (GO:0003334)5.30019395
9intestinal epithelial cell development (GO:0060576)5.13116624
10keratinocyte proliferation (GO:0043616)4.84132795
11water homeostasis (GO:0030104)4.77251287
12gap junction assembly (GO:0016264)4.76851405
13atrioventricular valve morphogenesis (GO:0003181)4.74140279
14epithelial cell differentiation involved in prostate gland development (GO:0060742)4.72676024
15keratinocyte differentiation (GO:0030216)4.66957015
16epithelial cell-cell adhesion (GO:0090136)4.40862264
17lateral sprouting from an epithelium (GO:0060601)4.30166896
18establishment of planar polarity (GO:0001736)4.28466740
19establishment of tissue polarity (GO:0007164)4.28466740
20regulation of cardioblast differentiation (GO:0051890)4.17165209
21dichotomous subdivision of an epithelial terminal unit (GO:0060600)4.17127764
22regulation of cholesterol homeostasis (GO:2000188)4.16937612
23morphogenesis of embryonic epithelium (GO:0016331)4.10831548
24epidermal cell differentiation (GO:0009913)3.97633046
25regulation of cell proliferation involved in kidney development (GO:1901722)3.96684143
26planar cell polarity pathway involved in neural tube closure (GO:0090179)3.94087103
27cytoskeletal anchoring at plasma membrane (GO:0007016)3.82306020
28cell-substrate junction assembly (GO:0007044)3.81853609
29branching involved in salivary gland morphogenesis (GO:0060445)3.81764990
30epidermis development (GO:0008544)3.72329736
31activation of Rac GTPase activity (GO:0032863)3.70043190
32establishment of apical/basal cell polarity (GO:0035089)3.67500424
33regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.64606570
34apical protein localization (GO:0045176)3.60963120
35cardiac right ventricle morphogenesis (GO:0003215)3.60416624
36regulation of keratinocyte differentiation (GO:0045616)3.55337548
37regulation of branching involved in prostate gland morphogenesis (GO:0060687)3.52887171
38negative regulation of cell fate specification (GO:0009996)3.49572255
39asymmetric protein localization (GO:0008105)3.45542080
40hair cycle (GO:0042633)3.42837699
41molting cycle (GO:0042303)3.42837699
42negative regulation of keratinocyte proliferation (GO:0010839)3.41047588
43ectoderm development (GO:0007398)3.40477278
44positive regulation of keratinocyte differentiation (GO:0045618)3.29267111
45cell-cell junction assembly (GO:0007043)3.28024087
46adherens junction assembly (GO:0034333)3.27859084
47apoptotic process involved in morphogenesis (GO:0060561)3.25200066
48positive regulation of epidermal cell differentiation (GO:0045606)3.21938447
49regulation of fatty acid beta-oxidation (GO:0031998)3.21057751
50striated muscle atrophy (GO:0014891)3.11210248
51regulation of Wnt signaling pathway involved in heart development (GO:0003307)3.09344680
52regulation of keratinocyte proliferation (GO:0010837)3.04622374
53establishment of monopolar cell polarity (GO:0061162)3.01311874
54establishment or maintenance of monopolar cell polarity (GO:0061339)3.01311874
55positive regulation of fatty acid beta-oxidation (GO:0032000)3.01197952
56cell-substrate adherens junction assembly (GO:0007045)3.00419125
57focal adhesion assembly (GO:0048041)3.00419125
58lung epithelium development (GO:0060428)2.97555123
59branching involved in mammary gland duct morphogenesis (GO:0060444)2.93145330
60ventricular cardiac muscle cell action potential (GO:0086005)2.92619360
61collecting duct development (GO:0072044)2.92238977
62tight junction assembly (GO:0070830)2.91200512
63Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.90789872
64epithelial cell maturation (GO:0002070)2.90236853
65positive regulation of epidermis development (GO:0045684)2.86864432
66hair follicle development (GO:0001942)2.84998238
67calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules (GO:0016338)2.84930138
68trophectodermal cell differentiation (GO:0001829)2.84304869
69regulation of endothelial cell chemotaxis (GO:2001026)2.83798424
70intermediate filament organization (GO:0045109)2.83252784
71notochord development (GO:0030903)2.83084813
72regulation of epidermis development (GO:0045682)2.82397268
73maternal placenta development (GO:0001893)2.81527327
74endothelial cell chemotaxis (GO:0035767)2.78178896
75peptide cross-linking (GO:0018149)2.78049785
76semaphorin-plexin signaling pathway (GO:0071526)2.77508121
77regulation of establishment of planar polarity (GO:0090175)2.77336384
78regulation of cholesterol biosynthetic process (GO:0045540)2.76433607
79auditory receptor cell differentiation (GO:0042491)2.76398207
80heart valve morphogenesis (GO:0003179)2.76175178
81epithelial cell fate commitment (GO:0072148)2.74549390
82regulation of glomerular filtration (GO:0003093)2.73974101
83cell surface receptor signaling pathway involved in heart development (GO:0061311)2.72668159
84regulation of hippo signaling (GO:0035330)2.71205398
85skin morphogenesis (GO:0043589)2.69972030
86negative regulation of cell fate commitment (GO:0010454)2.69516433
87embryonic eye morphogenesis (GO:0048048)2.69100466
88negative regulation of viral release from host cell (GO:1902187)2.68345456
89surfactant homeostasis (GO:0043129)2.67133305
90plasma membrane repair (GO:0001778)2.66962694
91positive regulation of Cdc42 GTPase activity (GO:0043089)2.66151434
92skin development (GO:0043588)2.64883952
93establishment or maintenance of bipolar cell polarity (GO:0061245)2.63485763
94establishment or maintenance of apical/basal cell polarity (GO:0035088)2.63485763
95cell junction assembly (GO:0034329)2.62765605
96negative regulation of fatty acid transport (GO:2000192)2.61865986
97muscle atrophy (GO:0014889)2.61103636
98regulation of epidermal cell differentiation (GO:0045604)2.60994800
99lung lobe morphogenesis (GO:0060463)2.60322831
100desmosome organization (GO:0002934)12.9627971

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ZNF263_19887448_ChIP-Seq_K562_Human3.99668617
2ESR2_21235772_ChIP-Seq_MCF-7_Human3.98961900
3* TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse3.51483995
4ESR1_21235772_ChIP-Seq_MCF-7_Human3.26003532
5TFAP2C_20629094_ChIP-Seq_MCF-7_Human3.13517048
6TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.92232180
7ESR1_20079471_ChIP-ChIP_T-47D_Human2.80148709
8HIF1A_21447827_ChIP-Seq_MCF-7_Human2.77840547
9RACK7_27058665_Chip-Seq_MCF-7_Human2.65996231
10RUNX1_27514584_Chip-Seq_MCF-7_Human2.55212755
11SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.50421638
12P63_26484246_Chip-Seq_KERATINOCYTES_Human2.40398794
13ZNF217_24962896_ChIP-Seq_MCF-7_Human2.35260806
14SOX9_24532713_ChIP-Seq_HFSC_Mouse2.28111771
15RARG_19884340_ChIP-ChIP_MEFs_Mouse2.01653956
16KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human2.00488153
17TP63_17297297_ChIP-ChIP_HaCaT_Human10.7821962
18AHR_22903824_ChIP-Seq_MCF-7_Human1.99885066
19SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.91311281
20SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.91311281
21KLF5_25053715_ChIP-Seq_YYC3_Human1.84215807
22CDX2_20551321_ChIP-Seq_CACO-2_Human1.83521014
23* EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.83495417
24ERG_21242973_ChIP-ChIP_JURKAT_Human1.78026224
25KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.76042371
26SOX2_27498859_Chip-Seq_STOMACH_Mouse1.75547873
27GATA6_25053715_ChIP-Seq_YYC3_Human1.74576000
28* LXR_22292898_ChIP-Seq_THP-1_Human1.70688341
29* KDM2B_26808549_Chip-Seq_K562_Human1.64508259
30STAT6_21828071_ChIP-Seq_BEAS2B_Human1.64238961
31ATF3_27146783_Chip-Seq_COLON_Human1.62804111
32ESR1_15608294_ChIP-ChIP_MCF-7_Human1.61884260
33* GATA3_24758297_ChIP-Seq_MCF-7_Human1.59752839
34ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.58620001
35FOXO3_23340844_ChIP-Seq_DLD1_Human1.55233744
36NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.50980111
37ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.48698816
38* CREB1_26743006_Chip-Seq_LNCaP_Human1.46500713
39NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.44251649
40* KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.43194725
41ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.40738395
42* KDM2B_26808549_Chip-Seq_SUP-B15_Human1.40046787
43* TP63_22573176_ChIP-Seq_HFKS_Human1.39903223
44ELK3_25401928_ChIP-Seq_HUVEC_Human1.39148031
45* CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.35767910
46UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.35646767
47* SMC4_20622854_ChIP-Seq_HELA_Human1.35457420
48ARNT_22903824_ChIP-Seq_MCF-7_Human1.35446031
49TCF7_22412390_ChIP-Seq_EML_Mouse1.31421191
50PPAR_26484153_Chip-Seq_NCI-H1993_Human1.31081676
51UBF1/2_26484160_Chip-Seq_HMECs_Human1.30701980
52FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.24532067
53PKCTHETA_26484144_Chip-Seq_BREAST_Human1.21359949
54* SOX2_20726797_ChIP-Seq_SW620_Human1.19786884
55SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.19623965
56KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.18939026
57TP53_22127205_ChIP-Seq_IMR90_Human1.16489444
58CHD1_26751641_Chip-Seq_LNCaP_Human1.13699013
59P300_27058665_Chip-Seq_ZR-75-30cells_Human1.11070749
60SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.10995231
61GATA4_25053715_ChIP-Seq_YYC3_Human1.09536916
62* PPARA_22158963_ChIP-Seq_LIVER_Mouse1.09457234
63* P68_20966046_ChIP-Seq_HELA_Human1.09314885
64ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.09144559
65FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.07046381
66TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.06268939
67* KDM2B_26808549_Chip-Seq_DND41_Human1.04195067
68WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.02379329
69* CTCF_27219007_Chip-Seq_Bcells_Human1.01817615
70TRIM28_21343339_ChIP-Seq_HEK293_Human0.94912016
71KLF4_18555785_ChIP-Seq_MESCs_Mouse0.94722409
72ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.94382949
73FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.94244914
74FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.93142886
75TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.91479735
76* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.91010056
77DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.90293390
78SA1_27219007_Chip-Seq_ERYTHROID_Human0.90089437
79* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.88172881
80CLOCK_20551151_ChIP-Seq_293T_Human0.87963796
81TET1_21490601_ChIP-Seq_MESCs_Mouse0.87921391
82EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.87732201
83ZFP281_27345836_Chip-Seq_ESCs_Mouse0.87693791
84ZFP281_18757296_ChIP-ChIP_E14_Mouse0.87538876
85BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.87011055
86STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.86206003
87PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.85521144
88SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.84817139
89TP63_23658742_ChIP-Seq_EP156T_Human0.83912712
90CTNNB1_20460455_ChIP-Seq_HCT116_Human0.83589528
91AR_21909140_ChIP-Seq_LNCAP_Human0.81991141
92* RXR_22158963_ChIP-Seq_LIVER_Mouse0.81461021
93VDR_21846776_ChIP-Seq_THP-1_Human0.81403393
94AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.80801930
95STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.80084998
96RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.77693654
97PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.76729914
98FOXA2_19822575_ChIP-Seq_HepG2_Human0.76580801
99STAT3_1855785_ChIP-Seq_MESCs_Mouse0.76234400
100CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.75329029

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0010234_abnormal_vibrissa_follicle6.23635127
2MP0002796_impaired_skin_barrier5.86331832
3MP0000579_abnormal_nail_morphology4.72390997
4MP0000566_synostosis4.26324890
5MP0003705_abnormal_hypodermis_morpholog3.79826931
6MP0005501_abnormal_skin_physiology3.77801154
7MP0000383_abnormal_hair_follicle3.64932369
8MP0005275_abnormal_skin_tensile3.49193848
9MP0010678_abnormal_skin_adnexa3.45735388
10MP0002098_abnormal_vibrissa_morphology3.07785624
11MP0004264_abnormal_extraembryonic_tissu2.76100405
12MP0005076_abnormal_cell_differentiation2.66868434
13MP0003941_abnormal_skin_development2.60839089
14MP0001216_abnormal_epidermal_layer2.58970389
15MP0002060_abnormal_skin_morphology2.57333655
16* MP0003453_abnormal_keratinocyte_physiol2.52159886
17MP0004381_abnormal_hair_follicle2.51058419
18MP0010771_integument_phenotype2.23755829
19MP0000377_abnormal_hair_follicle2.13316125
20MP0009780_abnormal_chondrocyte_physiolo1.95270385
21MP0009379_abnormal_foot_pigmentation1.90676001
22MP0000537_abnormal_urethra_morphology1.90478287
23MP0000427_abnormal_hair_cycle1.82812979
24MP0000467_abnormal_esophagus_morphology1.76878703
25MP0004782_abnormal_surfactant_physiolog1.76699022
26MP0010030_abnormal_orbit_morphology1.72458960
27MP0005409_darkened_coat_color1.63864194
28MP0001849_ear_inflammation1.59505249
29MP0000762_abnormal_tongue_morphology1.53965276
30MP0000647_abnormal_sebaceous_gland1.49188848
31MP0003566_abnormal_cell_adhesion1.48256758
32MP0009384_cardiac_valve_regurgitation1.36365827
33MP0009931_abnormal_skin_appearance1.35580631
34MP0004947_skin_inflammation1.26744077
35MP0002249_abnormal_larynx_morphology1.23476227
36MP0000627_abnormal_mammary_gland1.19880287
37MP0010352_gastrointestinal_tract_polyps1.16111202
38MP0002009_preneoplasia1.12462045
39MP0000367_abnormal_coat/_hair1.11964058
40MP0000462_abnormal_digestive_system1.06890509
41MP0005083_abnormal_biliary_tract1.04350467
42MP0001188_hyperpigmentation0.97925498
43MP0002111_abnormal_tail_morphology0.95524713
44MP0001191_abnormal_skin_condition0.94124762
45MP0003123_paternal_imprinting0.93581401
46MP0000678_abnormal_parathyroid_gland0.93420011
47MP0002089_abnormal_postnatal_growth/wei0.93212579
48MP0005257_abnormal_intraocular_pressure0.91060624
49MP0000003_abnormal_adipose_tissue0.89733131
50MP0004185_abnormal_adipocyte_glucose0.85510930
51MP0002282_abnormal_trachea_morphology0.82714424
52MP0001243_abnormal_dermal_layer0.82352130
53MP0000538_abnormal_urinary_bladder0.81022521
54MP0003115_abnormal_respiratory_system0.80198475
55MP0004233_abnormal_muscle_weight0.78985416
56MP0001873_stomach_inflammation0.73661766
57MP0001340_abnormal_eyelid_morphology0.73497376
58MP0003937_abnormal_limbs/digits/tail_de0.72608399
59MP0008438_abnormal_cutaneous_collagen0.71533992
60MP0001348_abnormal_lacrimal_gland0.70039201
61MP0003942_abnormal_urinary_system0.69751572
62MP0002697_abnormal_eye_size0.69282551
63MP0003755_abnormal_palate_morphology0.68940934
64MP0004197_abnormal_fetal_growth/weight/0.67988463
65MP0009053_abnormal_anal_canal0.67327583
66MP0004272_abnormal_basement_membrane0.65055452
67MP0002166_altered_tumor_susceptibility0.64822808
68MP0004858_abnormal_nervous_system0.64510221
69MP0005375_adipose_tissue_phenotype0.62731213
70MP0006138_congestive_heart_failure0.62432041
71MP0000432_abnormal_head_morphology0.61963477
72MP0000428_abnormal_craniofacial_morphol0.60060815
73MP0001881_abnormal_mammary_gland0.59777550
74MP0000470_abnormal_stomach_morphology0.59644879
75MP0002108_abnormal_muscle_morphology0.59466574
76* MP0005023_abnormal_wound_healing0.59058151
77MP0004133_heterotaxia0.58719886
78MP0003191_abnormal_cellular_cholesterol0.57241199
79MP0002086_abnormal_extraembryonic_tissu0.56704468
80MP0002116_abnormal_craniofacial_bone0.55480627
81MP0003183_abnormal_peptide_metabolism0.55180572
82MP0003936_abnormal_reproductive_system0.54755008
83MP0000733_abnormal_muscle_development0.54398304
84MP0002877_abnormal_melanocyte_morpholog0.53202220
85MP0002233_abnormal_nose_morphology0.52288487
86MP0008961_abnormal_basal_metabolism0.52166986
87MP0000013_abnormal_adipose_tissue0.51322787
88MP0001958_emphysema0.50894964
89MP0001346_abnormal_lacrimal_gland0.50885248
90MP0010630_abnormal_cardiac_muscle0.50497216
91MP0003935_abnormal_craniofacial_develop0.50417659
92MP0005248_abnormal_Harderian_gland0.49611601
93MP0000477_abnormal_intestine_morphology0.49128246
94MP0002896_abnormal_bone_mineralization0.48825944
95MP0005451_abnormal_body_composition0.48361818
96MP0002254_reproductive_system_inflammat0.47978676
97MP0000534_abnormal_ureter_morphology0.47724902
98MP0002653_abnormal_ependyma_morphology0.47006439
99MP0005360_urolithiasis0.46747899
100MP0001784_abnormal_fluid_regulation0.46519508

Predicted human phenotypes

RankGene SetZ-score
1Right ventricular cardiomyopathy (HP:0011663)5.89018187
2Hypotrichosis (HP:0001006)4.90897285
3Abnormality of nail color (HP:0100643)4.62492236
4Alopecia of scalp (HP:0002293)4.62292568
5Lip pit (HP:0100267)4.47301006
6Fragile nails (HP:0001808)4.34903721
7Pili torti (HP:0003777)4.29522072
8Plantar hyperkeratosis (HP:0007556)4.22093096
9Milia (HP:0001056)4.10007623
10Palmoplantar hyperkeratosis (HP:0000972)3.83069460
11Abnormal hair laboratory examination (HP:0003328)3.80734667
12Selective tooth agenesis (HP:0001592)3.73645011
13Thick nail (HP:0001805)3.71665948
14Palmar hyperkeratosis (HP:0010765)3.59214904
15Aplasia involving bones of the extremities (HP:0009825)3.58739734
16Aplasia involving bones of the upper limbs (HP:0009823)3.58739734
17Aplasia of the phalanges of the hand (HP:0009802)3.58739734
18Abnormality of the axillary hair (HP:0100134)3.51206584
19Abnormality of secondary sexual hair (HP:0009888)3.51206584
20Woolly hair (HP:0002224)3.50880876
21Septate vagina (HP:0001153)3.42513338
22Advanced eruption of teeth (HP:0006288)3.28369790
23Broad face (HP:0000283)3.17090407
24Natal tooth (HP:0000695)3.12454022
25Onycholysis (HP:0001806)3.11693029
26Curly hair (HP:0002212)3.07654495
27Hypoplastic labia majora (HP:0000059)3.07132186
28Dry hair (HP:0011359)3.05596974
29Nail dystrophy (HP:0008404)2.96825663
30Duplicated collecting system (HP:0000081)2.94903211
31Hypoplasia of dental enamel (HP:0006297)2.94730485
32Abnormality of permanent molar morphology (HP:0011071)2.93351609
33Abnormality of the dental root (HP:0006486)2.93351609
34Taurodontia (HP:0000679)2.93351609
35Abnormality of the salivary glands (HP:0010286)2.89270860
36Abnormality of the labia majora (HP:0012881)2.88405897
37Sparse scalp hair (HP:0002209)2.87605430
38Nasolacrimal duct obstruction (HP:0000579)2.74768015
39Sparse eyelashes (HP:0000653)2.74726185
40Congenital ichthyosiform erythroderma (HP:0007431)2.74680554
41Abnormality of molar morphology (HP:0011070)2.72944676
42Abnormality of molar (HP:0011077)2.72944676
43Atrophic scars (HP:0001075)2.72163683
44Aplasia cutis congenita (HP:0001057)2.70558579
45Abnormality of the nasal septum (HP:0000419)2.63760876
46Bronchomalacia (HP:0002780)2.63476709
47Corneal erosion (HP:0200020)2.63106561
48Pterygium (HP:0001059)2.60025776
49Abnormality of the dental pulp (HP:0006479)2.59797122
50Fragile skin (HP:0001030)2.55846960
51Ectropion (HP:0000656)2.53121019
52Abnormality of the renal collecting system (HP:0004742)2.51994561
53Erythroderma (HP:0001019)2.48998458
54Amelogenesis imperfecta (HP:0000705)2.36645053
55Abnormality of the lacrimal duct (HP:0011481)2.36580439
56Oligodontia (HP:0000677)2.35935169
57Ureteral duplication (HP:0000073)2.34691686
58Erythema (HP:0010783)2.32667704
59Abnormality of the distal phalanx of the thumb (HP:0009617)2.30148590
60Depressed nasal tip (HP:0000437)2.28004591
61Absent eyelashes (HP:0000561)2.25764702
62Popliteal pterygium (HP:0009756)2.23313191
63Malnutrition (HP:0004395)2.20464193
64Flat acetabular roof (HP:0003180)2.19587317
65Abnormality of the distal phalanges of the toes (HP:0010182)2.17501736
66Increased IgE level (HP:0003212)2.16122535
67Abnormal blistering of the skin (HP:0008066)2.13776206
68Sparse lateral eyebrow (HP:0005338)2.07682092
69Germ cell neoplasia (HP:0100728)2.06221960
70Abnormality of the nasolacrimal system (HP:0000614)2.02626716
71Laryngomalacia (HP:0001601)1.96397382
72Underdeveloped nasal alae (HP:0000430)1.94554499
73Deviation of the thumb (HP:0009603)1.92701693
74Ventricular tachycardia (HP:0004756)1.91667225
75Concave nail (HP:0001598)1.91457957
76Anonychia (HP:0001798)1.90622825
77Sensory axonal neuropathy (HP:0003390)1.89658759
78Increased connective tissue (HP:0009025)1.88534759
79Short nail (HP:0001799)1.86641165
80Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173)1.85707099
81Breast hypoplasia (HP:0003187)1.84051241
82Ankyloglossia (HP:0010296)1.83792120
83Palmoplantar keratoderma (HP:0000982)1.83728215
84Thin bony cortex (HP:0002753)1.81761160
85Acanthosis nigricans (HP:0000956)1.81528526
86Cervical subluxation (HP:0003308)1.79573706
87Neonatal death (HP:0003811)1.78182935
88Abnormality of the gastric mucosa (HP:0004295)1.76999013
89Labial hypoplasia (HP:0000066)1.76966232
90Mixed hearing impairment (HP:0000410)1.76134555
91Cerebral aneurysm (HP:0004944)1.69932808
92Hamartoma of the eye (HP:0010568)1.66261701
93Tracheal stenosis (HP:0002777)1.63254839
94Hyperacusis (HP:0010780)1.63136743
95Hypoplastic female external genitalia (HP:0012815)1.61477566
96Proximal placement of thumb (HP:0009623)1.60123932
97Heterotopia (HP:0002282)1.58465745
98Abnormality of the columella (HP:0009929)1.57721094
99Asymmetry of the thorax (HP:0001555)1.56489019
100Mildly elevated creatine phosphokinase (HP:0008180)1.56421641

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA26.66672316
2MST1R5.06784080
3SIK14.39562837
4TRIB33.62780350
5EEF2K3.59593897
6STK242.93847710
7ICK2.91380606
8MET2.90738133
9MAPKAPK32.76535817
10SMG12.50153431
11PKN22.29676391
12LATS12.24981404
13CDK122.16732505
14RPS6KB21.89687182
15FER1.85575444
16LMTK21.78698777
17PBK1.77052741
18NME11.66814613
19LATS21.57596226
20RIPK11.55812705
21MTOR1.52222904
22PIM21.39107597
23MAP3K61.36031900
24STK38L1.33701188
25MAP3K21.30880390
26MST41.21607237
27PTK21.18826614
28IRAK31.16398734
29CAMK1D1.07816787
30PTK61.01275792
31MUSK0.97299567
32TTN0.96350410
33CHUK0.95595758
34PAK40.92233140
35TGFBR10.92020477
36MAPK150.90715225
37MAP3K30.90623309
38RPS6KA20.89848376
39STK390.86970477
40FGFR10.86857812
41FGFR40.85844309
42NEK60.84426266
43MAPKAPK50.79856531
44MAP3K70.76560528
45TRPM70.72799033
46STK30.72576768
47PRKCI0.72379372
48STK380.65612329
49MARK20.64192772
50MAP2K20.62297143
51CAMK1G0.61476189
52ERBB20.55177516
53MAPK70.54318854
54PRKD20.53141627
55RPS6KB10.52726704
56AKT30.52051692
57RPS6KC10.51032474
58RPS6KL10.51032474
59MAPK110.49322848
60PRKAA20.49142054
61RPS6KA10.45122585
62DMPK0.43993407
63CDK70.43318656
64PDGFRA0.43213427
65RPS6KA60.43095585
66MAPKAPK20.42488939
67MAP3K100.42113380
68FLT30.41849084
69MAPK120.41058324
70ILK0.39607108
71BRSK20.39292725
72FGFR20.37683799
73MAP3K90.37346074
74FGFR30.36635307
75PIK3CA0.35676046
76TAF10.35021023
77PRKAA10.34301027
78TAOK10.33492846
79PDGFRB0.32693106
80BMX0.32429590
81NME20.32340823
82EPHB10.31508445
83MAPK80.30944892
84BRD40.29211181
85ERN10.28139108
86MAP3K10.28061659
87IKBKB0.27685806
88RET0.26431477
89FRK0.26060392
90CAMK2B0.24840307
91PRKD30.24340707
92HIPK20.24101237
93CAMK2G0.22013602
94MELK0.21363320
95NTRK10.21257206
96CDC42BPA0.18972165
97CAMK2D0.18794147
98IRAK20.17510488
99MAP2K10.17393047
100MAPK90.16778890

Predicted pathways (KEGG)

RankGene SetZ-score
1Notch signaling pathway_Homo sapiens_hsa043302.76959566
2ECM-receptor interaction_Homo sapiens_hsa045122.61636321
3Thyroid cancer_Homo sapiens_hsa052162.16252694
4Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.15949893
5Small cell lung cancer_Homo sapiens_hsa052221.97869297
6Basal cell carcinoma_Homo sapiens_hsa052171.84733785
7alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.80664506
8Tight junction_Homo sapiens_hsa045301.77752866
9Fatty acid biosynthesis_Homo sapiens_hsa000611.76565740
10Histidine metabolism_Homo sapiens_hsa003401.76275158
11Hippo signaling pathway_Homo sapiens_hsa043901.75187254
12Cyanoamino acid metabolism_Homo sapiens_hsa004601.74839540
13Bladder cancer_Homo sapiens_hsa052191.72016448
14MicroRNAs in cancer_Homo sapiens_hsa052061.63161463
15Thyroid hormone signaling pathway_Homo sapiens_hsa049191.62246211
16Central carbon metabolism in cancer_Homo sapiens_hsa052301.59935372
17Sphingolipid metabolism_Homo sapiens_hsa006001.52187419
18Adherens junction_Homo sapiens_hsa045201.51860506
19Vitamin digestion and absorption_Homo sapiens_hsa049771.50747086
20Lysine degradation_Homo sapiens_hsa003101.50066119
21Fructose and mannose metabolism_Homo sapiens_hsa000511.45390508
22AMPK signaling pathway_Homo sapiens_hsa041521.40298303
23Dorso-ventral axis formation_Homo sapiens_hsa043201.38960361
24Arginine biosynthesis_Homo sapiens_hsa002201.35849489
25Endometrial cancer_Homo sapiens_hsa052131.35820542
26Hedgehog signaling pathway_Homo sapiens_hsa043401.33972438
27Inositol phosphate metabolism_Homo sapiens_hsa005621.25680875
28ABC transporters_Homo sapiens_hsa020101.24604405
29Phosphatidylinositol signaling system_Homo sapiens_hsa040701.24097159
30Focal adhesion_Homo sapiens_hsa045101.23678863
31Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.21946942
32Insulin resistance_Homo sapiens_hsa049311.21566907
33Linoleic acid metabolism_Homo sapiens_hsa005911.20641247
34VEGF signaling pathway_Homo sapiens_hsa043701.18866323
35Choline metabolism in cancer_Homo sapiens_hsa052311.18629402
36Insulin signaling pathway_Homo sapiens_hsa049101.17700362
37Longevity regulating pathway - mammal_Homo sapiens_hsa042111.17360201
38Amoebiasis_Homo sapiens_hsa051461.16263010
39Vitamin B6 metabolism_Homo sapiens_hsa007501.16181006
40Proteoglycans in cancer_Homo sapiens_hsa052051.15965213
41Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.14947014
42Phenylalanine metabolism_Homo sapiens_hsa003601.12723457
43Axon guidance_Homo sapiens_hsa043601.09990850
44Circadian rhythm_Homo sapiens_hsa047101.04959258
45mTOR signaling pathway_Homo sapiens_hsa041501.03896879
46Hepatitis C_Homo sapiens_hsa051601.03745410
47ErbB signaling pathway_Homo sapiens_hsa040121.03161680
48Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.00519322
49Galactose metabolism_Homo sapiens_hsa000521.00284995
50Ovarian steroidogenesis_Homo sapiens_hsa049130.99810020
51Glucagon signaling pathway_Homo sapiens_hsa049220.95962666
52Acute myeloid leukemia_Homo sapiens_hsa052210.95476491
53Glycerophospholipid metabolism_Homo sapiens_hsa005640.95180961
54GnRH signaling pathway_Homo sapiens_hsa049120.93407129
55Melanogenesis_Homo sapiens_hsa049160.92079071
56Protein digestion and absorption_Homo sapiens_hsa049740.91796063
57Chronic myeloid leukemia_Homo sapiens_hsa052200.86935527
58Pathways in cancer_Homo sapiens_hsa052000.84859485
59Ether lipid metabolism_Homo sapiens_hsa005650.83461281
60TGF-beta signaling pathway_Homo sapiens_hsa043500.83134279
61Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.78736728
62Wnt signaling pathway_Homo sapiens_hsa043100.76248414
63Pentose phosphate pathway_Homo sapiens_hsa000300.76143371
64p53 signaling pathway_Homo sapiens_hsa041150.75778025
65Renal cell carcinoma_Homo sapiens_hsa052110.74378263
66Sulfur relay system_Homo sapiens_hsa041220.73449036
67Bile secretion_Homo sapiens_hsa049760.70909739
68Steroid biosynthesis_Homo sapiens_hsa001000.66534161
69Prostate cancer_Homo sapiens_hsa052150.65145335
70Glioma_Homo sapiens_hsa052140.64468240
71Estrogen signaling pathway_Homo sapiens_hsa049150.63172241
72Biosynthesis of amino acids_Homo sapiens_hsa012300.62816826
73Adipocytokine signaling pathway_Homo sapiens_hsa049200.60762984
74PI3K-Akt signaling pathway_Homo sapiens_hsa041510.60691315
75Leukocyte transendothelial migration_Homo sapiens_hsa046700.60440272
76Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.59896431
77Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.57408044
78Non-small cell lung cancer_Homo sapiens_hsa052230.55141022
79Phospholipase D signaling pathway_Homo sapiens_hsa040720.54690991
80Regulation of actin cytoskeleton_Homo sapiens_hsa048100.54460083
81Aldosterone synthesis and secretion_Homo sapiens_hsa049250.51994226
82Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.51911562
83Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.51348655
84Arginine and proline metabolism_Homo sapiens_hsa003300.51273765
85Pancreatic cancer_Homo sapiens_hsa052120.50337175
86Melanoma_Homo sapiens_hsa052180.48685020
87Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.47480257
88Pentose and glucuronate interconversions_Homo sapiens_hsa000400.46587260
89Tyrosine metabolism_Homo sapiens_hsa003500.46250203
90Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.45595770
91N-Glycan biosynthesis_Homo sapiens_hsa005100.44570158
92Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.44143661
93Steroid hormone biosynthesis_Homo sapiens_hsa001400.43204940
94Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.42243435
95Long-term depression_Homo sapiens_hsa047300.39905878
96Arachidonic acid metabolism_Homo sapiens_hsa005900.38293561
97Endocytosis_Homo sapiens_hsa041440.38083126
98PPAR signaling pathway_Homo sapiens_hsa033200.37990533
99Starch and sucrose metabolism_Homo sapiens_hsa005000.36041570
100Vascular smooth muscle contraction_Homo sapiens_hsa042700.35626058

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