KRT6A

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. As many as six of this type II cytokeratin (KRT6) have been identified; the multiplicity of the genes is attributed to successive gene duplication events. The genes are expressed with family members KRT16 and/or KRT17 in the filiform papillae of the tongue, the stratified epithelial lining of oral mucosa and esophagus, the outer root sheath of hair follicles, and the glandular epithelia. This KRT6 gene in particular encodes the most abundant isoform. Mutations in these genes have been associated with pachyonychia congenita. In addition, peptides from the C-terminal region of the protein have antimicrobial activity against bacterial pathogens. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1peptide cross-linking (GO:0018149)9.41699645
2ectoderm development (GO:0007398)9.10576123
3keratinocyte differentiation (GO:0030216)8.27400209
4intermediate filament cytoskeleton organization (GO:0045104)7.84793104
5epidermis development (GO:0008544)7.74838038
6intermediate filament-based process (GO:0045103)7.59613609
7bundle of His cell to Purkinje myocyte communication (GO:0086069)7.41782787
8skin morphogenesis (GO:0043589)7.34521490
9multicellular organismal water homeostasis (GO:0050891)6.85322494
10epidermal cell differentiation (GO:0009913)6.25756231
11fatty acid elongation (GO:0030497)6.10972772
12water homeostasis (GO:0030104)5.67965714
13cell-substrate junction assembly (GO:0007044)4.85169746
14response to zinc ion (GO:0010043)4.84614579
15keratinocyte development (GO:0003334)4.75486035
16chemical homeostasis within a tissue (GO:0048875)4.68470681
17adhesion of symbiont to host cell (GO:0044650)4.25309983
18virion attachment to host cell (GO:0019062)4.25309983
19lipoxygenase pathway (GO:0019372)4.16005434
20negative regulation of keratinocyte proliferation (GO:0010839)4.08171191
21skin development (GO:0043588)4.01527108
22polarized epithelial cell differentiation (GO:0030859)3.97207665
23negative regulation of interferon-gamma production (GO:0032689)3.91663244
24gap junction assembly (GO:0016264)3.68679917
25long-chain fatty acid biosynthetic process (GO:0042759)3.68034934
26positive regulation of keratinocyte differentiation (GO:0045618)3.66027619
27epithelial cell differentiation involved in prostate gland development (GO:0060742)3.65087512
28adhesion of symbiont to host (GO:0044406)3.57636594
29epithelium development (GO:0060429)3.56176252
30atrioventricular valve morphogenesis (GO:0003181)3.48765704
31positive regulation of monocyte chemotaxis (GO:0090026)3.47844338
32regulation of natural killer cell differentiation (GO:0032823)3.47694106
33long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)3.46302786
34lateral sprouting from an epithelium (GO:0060601)3.42000313
35long-chain fatty-acyl-CoA metabolic process (GO:0035336)3.36252330
36keratinocyte proliferation (GO:0043616)3.32742916
37negative regulation of cell fate specification (GO:0009996)3.28846716
38ventricular cardiac muscle cell action potential (GO:0086005)3.21985894
39hypotonic response (GO:0006971)3.21415968
40fatty-acyl-CoA biosynthetic process (GO:0046949)3.20442065
41cell adhesion mediated by integrin (GO:0033627)3.13311139
42phosphatidylglycerol acyl-chain remodeling (GO:0036148)3.10613152
43phosphatidylinositol acyl-chain remodeling (GO:0036149)3.07867652
44regulation of transforming growth factor beta2 production (GO:0032909)3.07488225
45positive regulation of epidermis development (GO:0045684)3.04207581
46cytoskeletal anchoring at plasma membrane (GO:0007016)3.04015226
47regulation of Wnt signaling pathway involved in heart development (GO:0003307)3.03427960
48phosphatidylcholine acyl-chain remodeling (GO:0036151)3.02415795
49molting cycle (GO:0042303)20.3894040
50hair cycle (GO:0042633)20.3894040
51keratinization (GO:0031424)20.3860898
52negative regulation of epidermis development (GO:0045683)2.96900955
53dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.92263017
54planar cell polarity pathway involved in neural tube closure (GO:0090179)2.85118054
55sequestering of metal ion (GO:0051238)2.80412390
56cellular response to interleukin-4 (GO:0071353)2.80218255
57fatty-acyl-CoA metabolic process (GO:0035337)2.79528064
58regulation of cardioblast differentiation (GO:0051890)2.79385242
59negative regulation of interleukin-17 production (GO:0032700)2.79111686
60regulation of monocyte chemotaxis (GO:0090025)2.78337024
61regulation of transforming growth factor beta1 production (GO:0032908)2.77627889
62negative regulation of chondrocyte differentiation (GO:0032331)2.76841744
63phosphatidylserine acyl-chain remodeling (GO:0036150)2.76644741
64intestinal epithelial cell development (GO:0060576)2.75484613
65citrulline biosynthetic process (GO:0019240)2.73721938
66hair follicle morphogenesis (GO:0031069)2.72807007
67positive regulation of epidermal cell differentiation (GO:0045606)2.72759043
68detection of bacterium (GO:0016045)2.71879694
69gland morphogenesis (GO:0022612)2.71596042
70fibrinolysis (GO:0042730)2.68600256
71very long-chain fatty acid metabolic process (GO:0000038)2.68173621
72regulation of T cell chemotaxis (GO:0010819)2.67542737
73positive regulation of T cell chemotaxis (GO:0010820)2.67542737
74cell communication involved in cardiac conduction (GO:0086065)2.66724477
75cellular component disassembly involved in execution phase of apoptosis (GO:0006921)2.65374932
76regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)2.65259328
77regulation of heart rate by cardiac conduction (GO:0086091)2.65229049
78epithelial cell-cell adhesion (GO:0090136)2.64525223
79response to UV-B (GO:0010224)2.55740802
80mesodermal cell differentiation (GO:0048333)2.54132392
81establishment of planar polarity (GO:0001736)2.53598827
82establishment of tissue polarity (GO:0007164)2.53598827
83positive regulation of cell cycle checkpoint (GO:1901978)2.51888358
84wound healing (GO:0042060)2.50290450
85linoleic acid metabolic process (GO:0043651)2.45722078
86regulation of protein localization to cell surface (GO:2000008)2.45468166
87regulation of hair follicle development (GO:0051797)2.45414955
88epithelial cell proliferation (GO:0050673)2.44933724
89regulation of epidermis development (GO:0045682)2.44611673
90endodermal cell differentiation (GO:0035987)2.43308448
91positive regulation of hair follicle development (GO:0051798)2.43159309
92positive regulation of hair cycle (GO:0042635)2.43159309
93thioester biosynthetic process (GO:0035384)2.42331658
94acyl-CoA biosynthetic process (GO:0071616)2.42331658
95membrane tubulation (GO:0097320)2.41469393
96regulation of hair cycle (GO:0042634)2.40692220
97antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)2.37774587
98antigen processing and presentation of endogenous peptide antigen (GO:0002483)2.37774587
99alditol phosphate metabolic process (GO:0052646)2.37315384
100response to interleukin-4 (GO:0070670)2.35653303
101detection of other organism (GO:0098543)2.33767388
102amyloid precursor protein metabolic process (GO:0042982)2.27897864
103eyelid development in camera-type eye (GO:0061029)2.27773223
104one-carbon compound transport (GO:0019755)2.26930986
105cell junction organization (GO:0034330)2.23681623
106regulation of keratinocyte proliferation (GO:0010837)2.23479327
107negative regulation of cell fate commitment (GO:0010454)2.22859314
108regulation of keratinocyte differentiation (GO:0045616)2.17656416
109molting cycle process (GO:0022404)2.17426357
110hair cycle process (GO:0022405)2.17426357
111cell junction assembly (GO:0034329)2.15491830
112epithelial cell differentiation (GO:0030855)2.14784634
113regulation of ruffle assembly (GO:1900027)2.14478864
114cardiac conduction (GO:0061337)2.10774282
115positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)2.09187030
116positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)2.07968390
117protein localization to endosome (GO:0036010)2.07658946
118oocyte development (GO:0048599)2.07115786
119positive regulation of protein export from nucleus (GO:0046827)2.06946096
120phosphatidylethanolamine acyl-chain remodeling (GO:0036152)2.06012500
121surfactant homeostasis (GO:0043129)2.05962500
122regulation of epidermal cell differentiation (GO:0045604)2.05566752
123renal absorption (GO:0070293)2.04845268
124interleukin-1-mediated signaling pathway (GO:0070498)2.03582922
125phosphatidylserine metabolic process (GO:0006658)2.02222486
126non-canonical Wnt signaling pathway (GO:0035567)2.01270512
127hemidesmosome assembly (GO:0031581)14.1833513
128desmosome organization (GO:0002934)13.3086143
129establishment of skin barrier (GO:0061436)11.7169576
130intermediate filament organization (GO:0045109)10.8090507
131regulation of water loss via skin (GO:0033561)10.3268128

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse3.66994533
2CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human3.30421235
3P63_26484246_Chip-Seq_KERATINOCYTES_Human2.88255045
4SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.76239115
5EGR1_19032775_ChIP-ChIP_M12_Human2.25102538
6* SMAD2_18955504_ChIP-ChIP_HaCaT_Human2.01669738
7* SMAD3_18955504_ChIP-ChIP_HaCaT_Human2.01669738
8TP63_17297297_ChIP-ChIP_HaCaT_Human16.6926215
9ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.90049307
10* SOX9_24532713_ChIP-Seq_HFSC_Mouse1.82638502
11ZNF263_19887448_ChIP-Seq_K562_Human1.81878458
12TRIM28_21343339_ChIP-Seq_HEK293_Human1.79928999
13ESR1_21235772_ChIP-Seq_MCF-7_Human1.65567139
14CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.63172710
15RACK7_27058665_Chip-Seq_MCF-7_Human1.50355629
16FOXO3_23340844_ChIP-Seq_DLD1_Human1.50353319
17ESR2_21235772_ChIP-Seq_MCF-7_Human1.46979823
18TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.46818371
19* ATF3_27146783_Chip-Seq_COLON_Human1.46789361
20PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.44990802
21RARG_19884340_ChIP-ChIP_MEFs_Mouse1.44319889
22NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.38093867
23STAT6_21828071_ChIP-Seq_BEAS2B_Human1.34980999
24KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.28680637
25ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.27919111
26DNAJC2_21179169_ChIP-ChIP_NT2_Human1.26421958
27TP63_22573176_ChIP-Seq_HFKS_Human1.25787294
28PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.21819187
29LXR_22292898_ChIP-Seq_THP-1_Human1.21552920
30TP63_23658742_ChIP-Seq_EP156T_Human1.18114736
31* E2F1_20622854_ChIP-Seq_HELA_Human1.16915682
32* SOX2_20726797_ChIP-Seq_SW620_Human1.16246967
33* UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.16033765
34CLOCK_20551151_ChIP-Seq_293T_Human1.13656643
35CTCF_27219007_Chip-Seq_Bcells_Human1.13325276
36CTCF_20526341_ChIP-Seq_ESCs_Human1.13118491
37* KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.12175304
38KLF5_25053715_ChIP-Seq_YYC3_Human1.11476792
39HIF1A_21447827_ChIP-Seq_MCF-7_Human1.10057746
40GATA6_21074721_ChIP-Seq_CACO-2_Mouse1.08057722
41GATA3_24758297_ChIP-Seq_MCF-7_Human1.06072989
42TCF4_18268006_ChIP-ChIP_LS174T_Human1.04110572
43SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.03251425
44SRY_22984422_ChIP-ChIP_TESTIS_Rat1.02357360
45ERG_20517297_ChIP-Seq_VCAP_Human1.01486512
46ELK3_25401928_ChIP-Seq_HUVEC_Human1.01408351
47RXR_22108803_ChIP-Seq_LS180_Human1.00330460
48BCOR_27268052_Chip-Seq_Bcells_Human0.99404822
49RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.99233446
50CJUN_26792858_Chip-Seq_BT549_Human0.99032217
51* P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.98460403
52* UBF1/2_26484160_Chip-Seq_HMECs_Human0.96937142
53TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.95551988
54RUNX1_27514584_Chip-Seq_MCF-7_Human0.95460227
55ZNF217_24962896_ChIP-Seq_MCF-7_Human0.95184140
56JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.94723147
57JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.92842593
58GATA6_21074721_ChIP-Seq_CACO-2_Human0.92577953
59SA1_27219007_Chip-Seq_ERYTHROID_Human0.92236320
60P300_27058665_Chip-Seq_ZR-75-30cells_Human0.91788683
61SOX2_27498859_Chip-Seq_STOMACH_Mouse0.90349950
62ZFP281_18757296_ChIP-ChIP_E14_Mouse0.90261100
63P68_20966046_ChIP-Seq_HELA_Human0.89749772
64NANOG_20526341_ChIP-Seq_ESCs_Human0.89621515
65BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.88712576
66ESR1_17901129_ChIP-ChIP_LIVER_Mouse0.87105734
67BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.86547294
68RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.85397064
69GATA2_21666600_ChIP-Seq_HMVEC_Human0.85288345
70NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.84841920
71KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.84540068
72TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.84023963
73SUZ12_27294783_Chip-Seq_ESCs_Mouse0.83924692
74TP53_20018659_ChIP-ChIP_R1E_Mouse0.83794476
75ERG_21242973_ChIP-ChIP_JURKAT_Human0.83062629
76TP53_18474530_ChIP-ChIP_U2OS_Human0.82770377
77RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.82171546
78KDM2B_26808549_Chip-Seq_DND41_Human0.82041152
79TAF2_19829295_ChIP-Seq_ESCs_Human0.81156677
80AR_21572438_ChIP-Seq_LNCaP_Human0.80815727
81SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.80414133
82CSB_26484114_Chip-Seq_FIBROBLAST_Human0.80209513
83YY1_22570637_ChIP-Seq_MALME-3M_Human0.78830897
84STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.76822597
85FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.75980263
86GATA6_25053715_ChIP-Seq_YYC3_Human0.74964062
87CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.74885143
88EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.74840172
89AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.74406545
90KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.74205582
91KDM2B_26808549_Chip-Seq_K562_Human0.73424351
92SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.71322937
93KDM2B_26808549_Chip-Seq_SUP-B15_Human0.69966626
94* BCL6_27268052_Chip-Seq_Bcells_Human0.69741934
95SPI1_20517297_ChIP-Seq_HL60_Human0.69700760
96KDM2B_26808549_Chip-Seq_JURKAT_Human0.69377496
97* SMC4_20622854_ChIP-Seq_HELA_Human0.68792303
98JARID2_20075857_ChIP-Seq_MESCs_Mouse0.68235217
99AHR_22903824_ChIP-Seq_MCF-7_Human0.67520282
100ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.66650606
101GATA4_25053715_ChIP-Seq_YYC3_Human0.65508710
102CEBPB_22108803_ChIP-Seq_LS180_Human0.65305446
103THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.64664360
104NACC1_18358816_ChIP-ChIP_MESCs_Mouse0.63830304
105PPAR_26484153_Chip-Seq_NCI-H1993_Human0.63772300
106CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.63647052
107PPARA_22158963_ChIP-Seq_LIVER_Mouse0.63566810
108TBX20_22080862_ChIP-Seq_HEART_Mouse0.63547118
109TBX20_22328084_ChIP-Seq_HEART_Mouse0.63547118
110AR_21909140_ChIP-Seq_LNCAP_Human0.63467386
111HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.62075086
112MNX1_26342078_ChIP-Seq_MIN6-4N_Mouse0.61913383
113TET1_21490601_ChIP-Seq_MESCs_Mouse0.59592906
114WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.56196359
115TP53_16413492_ChIP-PET_HCT116_Human0.54606473
116TP53_22127205_ChIP-Seq_IMR90_Human0.53028549
117PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.52745382
118FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.51620417
119TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.51434258
120ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.50806365
121RBPJ_21746931_ChIP-Seq_IB4_Human0.50307773
122NANOG_18555785_ChIP-Seq_MESCs_Mouse0.47857347
123GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.47621672
124FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.46514633
125ESR1_20079471_ChIP-ChIP_T-47D_Human0.44043224

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1* MP0000579_abnormal_nail_morphology7.74555296
2MP0002796_impaired_skin_barrier7.70283067
3MP0005275_abnormal_skin_tensile5.82843474
4MP0005501_abnormal_skin_physiology4.84035769
5MP0010234_abnormal_vibrissa_follicle4.47830928
6MP0004381_abnormal_hair_follicle3.92054062
7MP0000383_abnormal_hair_follicle3.84390743
8* MP0000467_abnormal_esophagus_morphology3.76693044
9MP0010678_abnormal_skin_adnexa3.54851827
10MP0003705_abnormal_hypodermis_morpholog3.40672502
11* MP0001216_abnormal_epidermal_layer3.28685386
12MP0003453_abnormal_keratinocyte_physiol3.13963610
13MP0002060_abnormal_skin_morphology2.92987955
14MP0010771_integument_phenotype2.92163781
15MP0005409_darkened_coat_color2.91736341
16MP0000647_abnormal_sebaceous_gland2.76524514
17MP0000377_abnormal_hair_follicle2.70856952
18MP0002098_abnormal_vibrissa_morphology2.63090796
19MP0004947_skin_inflammation2.50476134
20* MP0000762_abnormal_tongue_morphology2.35182920
21MP0000427_abnormal_hair_cycle2.34579597
22MP0003566_abnormal_cell_adhesion2.26724052
23MP0002254_reproductive_system_inflammat2.25855747
24MP0003941_abnormal_skin_development2.06080771
25MP0002234_abnormal_pharynx_morphology1.89023827
26MP0009931_abnormal_skin_appearance1.68705550
27MP0001849_ear_inflammation1.48503856
28MP0009053_abnormal_anal_canal1.45605183
29MP0001191_abnormal_skin_condition1.44900045
30* MP0000367_abnormal_coat/_hair1.42366725
31MP0004185_abnormal_adipocyte_glucose1.40004950
32MP0005451_abnormal_body_composition1.39006310
33MP0001243_abnormal_dermal_layer1.38290059
34MP0008438_abnormal_cutaneous_collagen1.30275597
35MP0003191_abnormal_cellular_cholesterol1.27895145
36MP0001851_eye_inflammation1.25448853
37MP0008260_abnormal_autophagy1.19922923
38MP0009379_abnormal_foot_pigmentation1.11528811
39MP0000465_gastrointestinal_hemorrhage1.10886483
40MP0000678_abnormal_parathyroid_gland1.09499852
41MP0005377_hearing/vestibular/ear_phenot1.08695541
42MP0003878_abnormal_ear_physiology1.08695541
43MP0002282_abnormal_trachea_morphology1.03235897
44MP0004264_abnormal_extraembryonic_tissu0.91990145
45MP0004885_abnormal_endolymph0.83317846
46MP0004272_abnormal_basement_membrane0.71870257
47MP0003315_abnormal_perineum_morphology0.71147215
48MP0010352_gastrointestinal_tract_polyps0.70699845
49* MP0005023_abnormal_wound_healing0.69698562
50MP0008789_abnormal_olfactory_epithelium0.68508154
51MP0001340_abnormal_eyelid_morphology0.62763835
52MP0003950_abnormal_plasma_membrane0.62332028
53* MP0003755_abnormal_palate_morphology0.61657344
54MP0001346_abnormal_lacrimal_gland0.61365209
55MP0001784_abnormal_fluid_regulation0.60315306
56MP0005257_abnormal_intraocular_pressure0.57308779
57MP0005394_taste/olfaction_phenotype0.53519245
58MP0005499_abnormal_olfactory_system0.53519245
59MP0006054_spinal_hemorrhage0.47580862
60MP0003011_delayed_dark_adaptation0.46926685
61MP0002877_abnormal_melanocyte_morpholog0.45933008
62MP0000858_altered_metastatic_potential0.45532826
63MP0001188_hyperpigmentation0.45406634
64MP0000627_abnormal_mammary_gland0.44514257
65MP0000538_abnormal_urinary_bladder0.44028535
66MP0009780_abnormal_chondrocyte_physiolo0.42264894
67MP0005666_abnormal_adipose_tissue0.40882520
68MP0000003_abnormal_adipose_tissue0.39639287
69MP0001299_abnormal_eye_distance/0.38842951
70MP0005193_abnormal_anterior_eye0.37366351
71MP0005360_urolithiasis0.37247367
72MP0002111_abnormal_tail_morphology0.36741916
73MP0004858_abnormal_nervous_system0.36610946
74MP0004019_abnormal_vitamin_homeostasis0.36165625
75MP0000566_synostosis0.35601959
76MP0010030_abnormal_orbit_morphology0.34932959
77MP0003329_amyloid_beta_deposits0.33477031
78MP0005197_abnormal_uvea_morphology0.33378851
79MP0004782_abnormal_surfactant_physiolog0.32674876
80MP0003436_decreased_susceptibility_to0.32581404
81MP0005375_adipose_tissue_phenotype0.31588850
82MP0000470_abnormal_stomach_morphology0.31463650
83MP0003300_gastrointestinal_ulcer0.31453896
84MP0002177_abnormal_outer_ear0.30331584
85MP0002233_abnormal_nose_morphology0.28630817
86MP0003091_abnormal_cell_migration0.28294530
87MP0005076_abnormal_cell_differentiation0.27631612
88MP0005248_abnormal_Harderian_gland0.27609978
89MP0000462_abnormal_digestive_system0.26621012
90MP0004043_abnormal_pH_regulation0.25109145
91MP0008569_lethality_at_weaning0.25078495
92MP0003448_altered_tumor_morphology0.25041249
93MP0005621_abnormal_cell_physiology0.24991477
94MP0002090_abnormal_vision0.24431235
95MP0000015_abnormal_ear_pigmentation0.24385886
96MP0003828_pulmonary_edema0.24122546
97MP0003385_abnormal_body_wall0.24013701
98MP0001765_abnormal_ion_homeostasis0.23696268
99MP0002095_abnormal_skin_pigmentation0.23337475
100MP0000537_abnormal_urethra_morphology0.22386043
101MP0010368_abnormal_lymphatic_system0.22305298
102MP0000604_amyloidosis0.21995953
103MP0002697_abnormal_eye_size0.21679164
104MP0003638_abnormal_response/metabolism_0.20563662
105MP0001186_pigmentation_phenotype0.20529572
106MP0003303_peritoneal_inflammation0.19689374
107MP0002166_altered_tumor_susceptibility0.18968807
108MP0000751_myopathy0.18389616
109MP0001533_abnormal_skeleton_physiology0.18339267
110MP0001958_emphysema0.18119005
111MP0004197_abnormal_fetal_growth/weight/0.17969627
112MP0002133_abnormal_respiratory_system0.17168457
113MP0005388_respiratory_system_phenotype0.17168457
114MP0003075_altered_response_to0.17146666
115MP0001542_abnormal_bone_strength0.17060076
116MP0003045_fibrosis0.16935733
117MP0000733_abnormal_muscle_development0.16880177
118MP0005075_abnormal_melanosome_morpholog0.16220808
119MP0002896_abnormal_bone_mineralization0.16002454
120MP0009840_abnormal_foam_cell0.14192937
121MP0008770_decreased_survivor_rate0.14177058
122MP0000432_abnormal_head_morphology0.13737114
123MP0002006_tumorigenesis0.12485028

Predicted human phenotypes

RankGene SetZ-score
1Oral leukoplakia (HP:0002745)9.52314831
2Palmoplantar hyperkeratosis (HP:0000972)8.25675189
3Plantar hyperkeratosis (HP:0007556)8.17084017
4Alopecia of scalp (HP:0002293)8.03956195
5Palmar hyperkeratosis (HP:0010765)7.82227252
6Follicular hyperkeratosis (HP:0007502)7.55834667
7Onycholysis (HP:0001806)6.74939330
8Fragile nails (HP:0001808)6.52046537
9Milia (HP:0001056)6.44559761
10Increased IgE level (HP:0003212)6.25449438
11Hypotrichosis (HP:0001006)6.08857441
12Woolly hair (HP:0002224)5.77694719
13* Abnormal blistering of the skin (HP:0008066)4.97850490
14Nail dystrophy (HP:0008404)4.88945387
15Right ventricular cardiomyopathy (HP:0011663)4.57604257
16Pili torti (HP:0003777)4.52525053
17Ridged nail (HP:0001807)4.13729436
18Abnormality of secondary sexual hair (HP:0009888)4.11843402
19Abnormality of the axillary hair (HP:0100134)4.11843402
20Erythroderma (HP:0001019)3.96989670
21Erythema (HP:0010783)3.77912471
22* Laryngomalacia (HP:0001601)3.73630236
23Atrophic scars (HP:0001075)3.58452817
24Congenital ichthyosiform erythroderma (HP:0007431)3.49117451
25Fatigable weakness (HP:0003473)3.27410394
26Abnormality of the neuromuscular junction (HP:0003398)3.27410394
27* Palmoplantar keratoderma (HP:0000982)3.22053136
28* Corneal dystrophy (HP:0001131)3.08158436
29Abnormality of the salivary glands (HP:0010286)3.05233334
30* Anonychia (HP:0001798)3.00497038
31Conjunctival hamartoma (HP:0100780)2.97116893
32Hypohidrosis (HP:0000966)2.83690220
33Abnormal hair laboratory examination (HP:0003328)2.81373762
34* Hyperhidrosis (HP:0000975)2.72332416
35Ectropion (HP:0000656)2.72059993
36Selective tooth agenesis (HP:0001592)2.68162244
37Popliteal pterygium (HP:0009756)2.67085236
38Papilloma (HP:0012740)2.63770796
39Verrucae (HP:0200043)2.63770796
40Natal tooth (HP:0000695)2.62392842
41Corneal erosion (HP:0200020)2.61857463
42Hypoplastic labia majora (HP:0000059)2.57243977
43Advanced eruption of teeth (HP:0006288)2.52453687
44Sparse eyelashes (HP:0000653)2.50421191
45Gangrene (HP:0100758)2.48978404
46Congenital nonbullous ichthyosiform erythroderma (HP:0007479)2.46730902
47Absent hair (HP:0002298)2.46015367
48Pustule (HP:0200039)2.38802814
49Abnormality of the labia majora (HP:0012881)2.33224288
50Axonal loss (HP:0003447)2.29615666
51* Carious teeth (HP:0000670)2.28248511
52Ventricular tachycardia (HP:0004756)2.21087735
53Multifactorial inheritance (HP:0001426)2.17621489
54Ankyloglossia (HP:0010296)2.16097945
55Parakeratosis (HP:0001036)2.11934231
56Neonatal onset (HP:0003623)2.10199790
57Lip pit (HP:0100267)2.06222951
58Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.05324156
59Curly hair (HP:0002212)2.04057534
60* Abnormality of the fingernails (HP:0001231)2.03603278
61Pruritus (HP:0000989)2.02479711
62* Abnormality of nail color (HP:0100643)14.5623158
63Thick nail (HP:0001805)11.4219154
64Fragile skin (HP:0001030)1.98582402
65Hypergammaglobulinemia (HP:0010702)1.93079527
66Hamartoma of the eye (HP:0010568)1.90554149
67Oligodontia (HP:0000677)1.90116823
68Blepharitis (HP:0000498)1.86394581
69Aplasia cutis congenita (HP:0001057)1.86093806
70Xerostomia (HP:0000217)1.83328070
71Brittle hair (HP:0002299)1.82237358
72Skin ulcer (HP:0200042)1.81074246
73Increased connective tissue (HP:0009025)1.77609380
74Slow-growing hair (HP:0002217)1.74402854
75Abnormality of hair growth rate (HP:0011363)1.74402854
76Lack of skin elasticity (HP:0100679)1.69465386
77Recurrent corneal erosions (HP:0000495)1.68455120
78Absent eyelashes (HP:0000561)1.67264324
79Abnormality of oral frenula (HP:0000190)1.64763734
80Labial hypoplasia (HP:0000066)1.60665115
81Keratoconjunctivitis sicca (HP:0001097)1.59938909
82Split foot (HP:0001839)1.58481861
83Hypodontia (HP:0000668)1.58472417
84Acanthosis nigricans (HP:0000956)1.58022606
85Ventricular fibrillation (HP:0001663)1.55200607
86Sparse scalp hair (HP:0002209)1.53472238
87Dry hair (HP:0011359)1.49969986
88Abnormal auditory evoked potentials (HP:0006958)1.48952285
89Abnormality of placental membranes (HP:0011409)1.48632210
90Amniotic constriction ring (HP:0009775)1.48632210
91Hypoplastic female external genitalia (HP:0012815)1.48082278
92Type 1 muscle fiber predominance (HP:0003803)1.48057067
93Autoamputation (HP:0001218)1.47211688
94Septate vagina (HP:0001153)1.45096631
95Breast hypoplasia (HP:0003187)1.43724493
96Premature rupture of membranes (HP:0001788)1.43723795
97Achilles tendon contracture (HP:0001771)1.43225450
98Squamous cell carcinoma (HP:0002860)1.42583701
99Segmental peripheral demyelination/remyelination (HP:0003481)1.42303455
100Hyporeflexia of lower limbs (HP:0002600)1.41735944
101Furrowed tongue (HP:0000221)1.41511328
102Keratoconjunctivitis (HP:0001096)1.41435553
103Amelogenesis imperfecta (HP:0000705)1.41300722
104Dry skin (HP:0000958)1.40755734
105Cheilitis (HP:0100825)1.38106869
106Melanocytic nevus (HP:0000995)1.37052048
107Urticaria (HP:0001025)1.36498250
108Sudden death (HP:0001699)1.36442206
109Protrusio acetabuli (HP:0003179)1.35940975
110Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173)1.35527941
111Duplicated collecting system (HP:0000081)1.34204063
112Abnormality of the Achilles tendon (HP:0005109)1.33626349
113Esophageal atresia (HP:0002032)1.31601391
114Round ear (HP:0100830)1.30843505
115Pterygium (HP:0001059)1.30412274
116Muscle fiber splitting (HP:0003555)1.28902956
117Hypoplasia of dental enamel (HP:0006297)1.28148571
118Dehydration (HP:0001944)1.26947807
119Distal lower limb amyotrophy (HP:0008944)1.21385289
120Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)1.21005893
121Fine hair (HP:0002213)1.20280935
122Abnormality of the gastric mucosa (HP:0004295)1.19857226
123Epidermoid cyst (HP:0200040)1.17098232
124Distal lower limb muscle weakness (HP:0009053)1.17056071
125Muscle fiber inclusion bodies (HP:0100299)1.15817790
126Eczematoid dermatitis (HP:0000976)1.15756274
127Peritonitis (HP:0002586)1.15752516
128Intention tremor (HP:0002080)1.15192061
129Osteolytic defects of the phalanges of the hand (HP:0009771)1.14561921
130Osteolytic defects of the hand bones (HP:0009699)1.14561921

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ERN14.51167095
2FER4.49833692
3TRIB33.72150072
4MST1R3.46961912
5TGFBR13.30244307
6EPHA23.05846719
7ARAF2.78174192
8EPHB12.45172806
9MAPKAPK32.41049426
10MAP3K32.36005437
11TTN2.10314809
12EPHB22.05485727
13FGFR42.02665060
14RPS6KA41.98037549
15BLK1.94927969
16EPHA31.91275750
17FLT31.88923385
18MAP3K91.87486215
19TAOK11.83510960
20MAP3K61.83259510
21LATS11.81738880
22PKN21.79890511
23PIK3CG1.79614516
24TYK21.71645851
25MAP3K21.70661154
26EEF2K1.68715851
27SGK2231.65323655
28SGK4941.65323655
29RIPK11.64749583
30MET1.58103387
31NME11.53077531
32MAP3K111.50437909
33TESK11.46776532
34PTK61.45377431
35TRPM71.39027284
36LMTK21.34427226
37TGFBR21.33867728
38FGFR11.33430699
39FGFR31.29928610
40BCR1.29885208
41DDR21.27777647
42LRRK21.25718284
43LATS21.24470402
44PDGFRA1.23543635
45CDK121.23108820
46MAP3K11.20994120
47PTK21.15519118
48PIM21.14056855
49ERBB31.13992784
50MAP2K61.09944703
51MAP3K131.06761926
52RPS6KB21.03415475
53NEK11.03013758
54LIMK11.01078529
55MAP3K121.00712992
56CDK61.00662681
57BMX0.96640647
58PBK0.92771529
59MAP2K30.91955462
60STK240.91673948
61PRPF4B0.91360770
62MAP2K10.89801070
63MST40.88998978
64STK38L0.88568013
65IRAK30.85230091
66KSR20.85020924
67STK30.81800218
68JAK10.81338929
69MOS0.80556407
70SMG10.78922401
71STK100.77377076
72MAPKAPK20.73981309
73MAP3K70.73848007
74MAP2K40.72303905
75GRK60.71913360
76BRAF0.69441344
77PAK20.67666309
78FGR0.64747623
79RAF10.63039051
80DMPK0.62535952
81RET0.61933969
82PRKD20.61257555
83ILK0.58183615
84RPS6KA10.57872752
85FGFR20.57176963
86ALK0.54559997
87NTRK20.53296843
88KSR10.53289286
89JAK30.50619288
90RPS6KA20.48342265
91PRKD10.48079968
92JAK20.47664161
93IKBKB0.46936614
94SIK10.46898819
95TYRO30.44427616
96OBSCN0.43969455
97IRAK10.43915219
98NTRK10.41514187
99HCK0.41179103
100PAK40.40575107
101CDC42BPA0.40186888
102WNK10.40167896
103SRC0.39221968
104PAK30.37971636
105SIK30.37427037
106MAPKAPK50.36613449
107FYN0.36520272
108SGK30.35821374
109MAPK120.34937914
110ADRBK10.34760302
111ERBB20.33893378
112KIT0.33167248
113ROCK20.32943358
114DYRK1B0.32759487
115MAP3K80.32759070
116PDGFRB0.32274333
117NME20.31124357
118MAP3K50.30839565
119TBK10.30360858
120GSK3A0.30337878
121SGK10.30035223
122CSK0.29949053
123ABL20.29912164
124NEK60.29772875
125EGFR0.29317490
126MAPK70.28452896
127RPS6KB10.28178179
128PAK60.26831356
129PRKCI0.26518569
130MAPK40.23164546
131MTOR0.20075030
132STK380.19206267
133PRKCE0.19188553
134MAPK90.18890067
135MAPK110.18761278
136RPS6KC10.17963766
137RPS6KL10.17963766
138MARK20.16671247

Predicted pathways (KEGG)

RankGene SetZ-score
1Butirosin and neomycin biosynthesis_Homo sapiens_hsa005243.95333911
2Fatty acid elongation_Homo sapiens_hsa000623.80385887
3alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.93605174
4Linoleic acid metabolism_Homo sapiens_hsa005912.90002163
5Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.66464654
6ECM-receptor interaction_Homo sapiens_hsa045122.45355793
7Caffeine metabolism_Homo sapiens_hsa002321.91019061
8Phenylalanine metabolism_Homo sapiens_hsa003601.90409796
9Fat digestion and absorption_Homo sapiens_hsa049751.76441659
10VEGF signaling pathway_Homo sapiens_hsa043701.72776060
11Ether lipid metabolism_Homo sapiens_hsa005651.68367375
12Arachidonic acid metabolism_Homo sapiens_hsa005901.66019547
13Amoebiasis_Homo sapiens_hsa051461.59317185
14Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.51776400
15Proteoglycans in cancer_Homo sapiens_hsa052051.48761178
16Steroid biosynthesis_Homo sapiens_hsa001001.45240110
17GnRH signaling pathway_Homo sapiens_hsa049121.40367457
18Adherens junction_Homo sapiens_hsa045201.39274448
19Histidine metabolism_Homo sapiens_hsa003401.38007904
20Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.35295076
21Toxoplasmosis_Homo sapiens_hsa051451.33976468
22Acute myeloid leukemia_Homo sapiens_hsa052211.33622700
23Focal adhesion_Homo sapiens_hsa045101.33266518
24Bladder cancer_Homo sapiens_hsa052191.28388483
25Ovarian steroidogenesis_Homo sapiens_hsa049131.22333893
26Glycerophospholipid metabolism_Homo sapiens_hsa005641.12602399
27Staphylococcus aureus infection_Homo sapiens_hsa051501.12560265
28Pertussis_Homo sapiens_hsa051331.10887159
29PPAR signaling pathway_Homo sapiens_hsa033201.10218591
30Axon guidance_Homo sapiens_hsa043601.09047689
31Leukocyte transendothelial migration_Homo sapiens_hsa046701.07583026
32Tight junction_Homo sapiens_hsa045301.04781975
33Dorso-ventral axis formation_Homo sapiens_hsa043201.03172422
34Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.01092580
35Glioma_Homo sapiens_hsa052141.00358138
36AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.98005356
37Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.96908597
38Long-term depression_Homo sapiens_hsa047300.96414345
39Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.96124836
40Small cell lung cancer_Homo sapiens_hsa052220.95956580
41Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.95401789
42Dilated cardiomyopathy_Homo sapiens_hsa054140.95314905
43Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.94872520
44Basal cell carcinoma_Homo sapiens_hsa052170.94652683
45Thyroid cancer_Homo sapiens_hsa052160.94305887
46Circadian rhythm_Homo sapiens_hsa047100.93473695
47Platelet activation_Homo sapiens_hsa046110.93447851
48Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.93032237
49Galactose metabolism_Homo sapiens_hsa000520.90484485
50Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.90072805
51Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.89514039
52Chronic myeloid leukemia_Homo sapiens_hsa052200.89322445
53Nitrogen metabolism_Homo sapiens_hsa009100.89157718
54Choline metabolism in cancer_Homo sapiens_hsa052310.88534889
55Hippo signaling pathway_Homo sapiens_hsa043900.87247365
56Melanogenesis_Homo sapiens_hsa049160.84822859
57Prion diseases_Homo sapiens_hsa050200.84729409
58Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.84559104
59Vascular smooth muscle contraction_Homo sapiens_hsa042700.83237737
60Fructose and mannose metabolism_Homo sapiens_hsa000510.82697038
61Insulin signaling pathway_Homo sapiens_hsa049100.82223983
62Phosphatidylinositol signaling system_Homo sapiens_hsa040700.79563902
63Inositol phosphate metabolism_Homo sapiens_hsa005620.78030154
64Regulation of actin cytoskeleton_Homo sapiens_hsa048100.77952821
65Estrogen signaling pathway_Homo sapiens_hsa049150.77679338
66Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.76867219
67Insulin resistance_Homo sapiens_hsa049310.76194181
68Tyrosine metabolism_Homo sapiens_hsa003500.75605889
69Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.74368543
70Ras signaling pathway_Homo sapiens_hsa040140.73954886
71MicroRNAs in cancer_Homo sapiens_hsa052060.73937843
72Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.73097785
73Retinol metabolism_Homo sapiens_hsa008300.73082587
74Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.72629348
75Gastric acid secretion_Homo sapiens_hsa049710.69918316
76HIF-1 signaling pathway_Homo sapiens_hsa040660.69294906
77Malaria_Homo sapiens_hsa051440.68096731
78Renal cell carcinoma_Homo sapiens_hsa052110.68018571
79Sphingolipid signaling pathway_Homo sapiens_hsa040710.67243065
80Hepatitis C_Homo sapiens_hsa051600.67087222
81Pancreatic secretion_Homo sapiens_hsa049720.66832829
82Central carbon metabolism in cancer_Homo sapiens_hsa052300.66564897
83Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.66288556
84Phospholipase D signaling pathway_Homo sapiens_hsa040720.65847471
85PI3K-Akt signaling pathway_Homo sapiens_hsa041510.65228146
86Salmonella infection_Homo sapiens_hsa051320.64562352
87Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.63918042
88Endocytosis_Homo sapiens_hsa041440.63580766
89Rap1 signaling pathway_Homo sapiens_hsa040150.63265210
90Tuberculosis_Homo sapiens_hsa051520.61741788
91Renin secretion_Homo sapiens_hsa049240.61561891
92Salivary secretion_Homo sapiens_hsa049700.61201036
93Serotonergic synapse_Homo sapiens_hsa047260.60683407
94Chemical carcinogenesis_Homo sapiens_hsa052040.60482219
95Thyroid hormone signaling pathway_Homo sapiens_hsa049190.60082634
96Shigellosis_Homo sapiens_hsa051310.59687936
97Endometrial cancer_Homo sapiens_hsa052130.59116998
98Protein digestion and absorption_Homo sapiens_hsa049740.58860781
99beta-Alanine metabolism_Homo sapiens_hsa004100.58015367
100TNF signaling pathway_Homo sapiens_hsa046680.57957881
101Sphingolipid metabolism_Homo sapiens_hsa006000.57854789
102Long-term potentiation_Homo sapiens_hsa047200.57509609
103Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.56907320
104Oxytocin signaling pathway_Homo sapiens_hsa049210.56514791
105Adipocytokine signaling pathway_Homo sapiens_hsa049200.55512042
106Neurotrophin signaling pathway_Homo sapiens_hsa047220.54694385
107Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.53998082
108ErbB signaling pathway_Homo sapiens_hsa040120.53786265
109p53 signaling pathway_Homo sapiens_hsa041150.53421972
110Pathways in cancer_Homo sapiens_hsa052000.51451287
111Gap junction_Homo sapiens_hsa045400.51328854
112Arginine biosynthesis_Homo sapiens_hsa002200.51012117
113Hedgehog signaling pathway_Homo sapiens_hsa043400.50017567
114Pancreatic cancer_Homo sapiens_hsa052120.50009030
115Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.49599503
116Cyanoamino acid metabolism_Homo sapiens_hsa004600.48696911
117Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.48224144
118Notch signaling pathway_Homo sapiens_hsa043300.48211631
119Osteoclast differentiation_Homo sapiens_hsa043800.48040256
120ABC transporters_Homo sapiens_hsa020100.46498191
121Bile secretion_Homo sapiens_hsa049760.45601911
122Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.45541029
123Influenza A_Homo sapiens_hsa051640.45100899
124Complement and coagulation cascades_Homo sapiens_hsa046100.45031074
125Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.40700531
126MAPK signaling pathway_Homo sapiens_hsa040100.38268550
127Sulfur metabolism_Homo sapiens_hsa009200.37245280
128Apoptosis_Homo sapiens_hsa042100.36987260
129Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.35051298
130TGF-beta signaling pathway_Homo sapiens_hsa043500.34293414
131Non-small cell lung cancer_Homo sapiens_hsa052230.31062282
132Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.30394867

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