KRTAP1-3

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 protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1citrulline biosynthetic process (GO:0019240)9.06492049
2adhesion of symbiont to host (GO:0044406)8.63337696
3peptide cross-linking (GO:0018149)8.37907529
4hair follicle morphogenesis (GO:0031069)8.19085011
5intermediate filament cytoskeleton organization (GO:0045104)6.58884171
6cell wall macromolecule metabolic process (GO:0044036)6.47076730
7cell wall macromolecule catabolic process (GO:0016998)6.47076730
8intermediate filament-based process (GO:0045103)6.37879842
9epidermis development (GO:0008544)6.06540486
10citrulline metabolic process (GO:0000052)5.99692763
11establishment of skin barrier (GO:0061436)5.94435688
12keratinocyte differentiation (GO:0030216)5.81416439
13molting cycle process (GO:0022404)5.32017765
14hair cycle process (GO:0022405)5.32017765
15bundle of His cell to Purkinje myocyte communication (GO:0086069)5.27361528
16regulation of water loss via skin (GO:0033561)5.25579145
17skin morphogenesis (GO:0043589)5.11128852
18peptidyl-arginine modification (GO:0018195)5.01064312
19hemidesmosome assembly (GO:0031581)4.78568176
20epidermal cell differentiation (GO:0009913)4.54317308
21tooth mineralization (GO:0034505)4.00727389
22molting cycle (GO:0042303)34.5394931
23hair cycle (GO:0042633)34.5394931
24keratinocyte development (GO:0003334)3.87080908
25multicellular organismal water homeostasis (GO:0050891)3.54458318
26negative regulation of keratinocyte proliferation (GO:0010839)3.37110873
27negative regulation of establishment of protein localization to plasma membrane (GO:0090005)3.26958414
28hair follicle development (GO:0001942)3.19021272
29positive regulation of hair follicle development (GO:0051798)3.18690767
30positive regulation of hair cycle (GO:0042635)3.18690767
31phosphatidylinositol acyl-chain remodeling (GO:0036149)3.18195490
32regulation of keratinocyte differentiation (GO:0045616)3.14933404
33regulation of hair follicle development (GO:0051797)3.00121117
34bone trabecula formation (GO:0060346)2.93619247
35phosphatidylserine acyl-chain remodeling (GO:0036150)2.90827278
36water homeostasis (GO:0030104)2.90003903
37epithelium development (GO:0060429)2.88370858
38fatty acid elongation (GO:0030497)2.77540491
39ectoderm development (GO:0007398)2.76880472
40gap junction assembly (GO:0016264)2.75112226
41atrioventricular valve morphogenesis (GO:0003181)2.73603431
42positive regulation of meiotic cell cycle (GO:0051446)2.70207054
43negative regulation of protein localization to plasma membrane (GO:1903077)2.70096339
44positive regulation of epidermis development (GO:0045684)2.69217304
45regulation of hair cycle (GO:0042634)2.67364442
46phosphatidylglycerol acyl-chain remodeling (GO:0036148)2.64424334
47regulation of epidermal cell differentiation (GO:0045604)2.45500957
48ventricular cardiac muscle cell action potential (GO:0086005)2.45145959
49negative regulation of cell fate specification (GO:0009996)2.40487851
50epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)2.40407438
51regulation of epidermis development (GO:0045682)2.39825222
52lymph vessel development (GO:0001945)2.37430494
53regulation of mesenchymal cell apoptotic process (GO:2001053)2.31313540
54cell surface receptor signaling pathway involved in heart development (GO:0061311)2.25138981
55skin development (GO:0043588)2.23012664
56phosphatidylserine metabolic process (GO:0006658)2.21810098
57positive regulation of epidermal cell differentiation (GO:0045606)2.20074970
58wound healing, spreading of epidermal cells (GO:0035313)2.20020864
59phosphatidylethanolamine acyl-chain remodeling (GO:0036152)2.11951907
60myotube differentiation (GO:0014902)2.11281303
61regulation of cardioblast differentiation (GO:0051890)2.11086994
62cranial suture morphogenesis (GO:0060363)2.10169362
63epithelial cell-cell adhesion (GO:0090136)2.07320538
64cytoskeletal anchoring at plasma membrane (GO:0007016)2.06164944
65positive regulation of monocyte chemotaxis (GO:0090026)2.05795965
66outflow tract septum morphogenesis (GO:0003148)2.05307776
67regulation of heart rate by cardiac conduction (GO:0086091)2.05066739
68aging (GO:0007568)2.03108148
69regulation of Wnt signaling pathway involved in heart development (GO:0003307)2.02810028
70intermediate filament organization (GO:0045109)12.0340568
71keratinization (GO:0031424)11.4419833
72desmosome organization (GO:0002934)10.2300333
73adhesion of symbiont to host cell (GO:0044650)10.2260027
74virion attachment to host cell (GO:0019062)10.2260027
75regulation of ruffle assembly (GO:1900027)1.97964290
76planar cell polarity pathway involved in neural tube closure (GO:0090179)1.97952382
77negative regulation of epidermis development (GO:0045683)1.94892859
78cell communication involved in cardiac conduction (GO:0086065)1.92574596
79regulation of keratinocyte proliferation (GO:0010837)1.91807336
80phosphatidylcholine acyl-chain remodeling (GO:0036151)1.87039383
81ephrin receptor signaling pathway (GO:0048013)1.86694880
82coronary vasculature morphogenesis (GO:0060977)1.83971281
83non-canonical Wnt signaling pathway (GO:0035567)1.83180172
84regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)1.82099818
85regulation of cardioblast proliferation (GO:0003264)1.78662478
86regulation of secondary heart field cardioblast proliferation (GO:0003266)1.78662478
87cell-substrate junction assembly (GO:0007044)1.78393195
88very long-chain fatty acid metabolic process (GO:0000038)1.69219734
89outer ear morphogenesis (GO:0042473)1.67963663
90negative regulation of cell fate commitment (GO:0010454)1.66673320
91keratinocyte proliferation (GO:0043616)1.65938287
92primary alcohol catabolic process (GO:0034310)1.63898227
93alditol phosphate metabolic process (GO:0052646)1.63390236
94antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)1.62276857
95antigen processing and presentation of endogenous peptide antigen (GO:0002483)1.62276857
96long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)1.61795329
97cardiac right ventricle morphogenesis (GO:0003215)1.61533204
98regulation of transcription from RNA polymerase II promoter involved in heart development (GO:1901211.61495899
99cardiac conduction (GO:0061337)1.60715529
100G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071991.60276244

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat7.70445081
2CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human4.81122989
3P63_26484246_Chip-Seq_KERATINOCYTES_Human3.51177012
4TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.69696051
5NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse2.16801142
6* CTCF_20526341_ChIP-Seq_ESCs_Human2.14551239
7BMI1_19503595_ChIP-Seq_MEFsC_Mouse2.11908544
8TP63_17297297_ChIP-ChIP_HaCaT_Human12.4006700
9PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.96508998
10E2F1_20622854_ChIP-Seq_HELA_Human1.81111260
11TAF2_19829295_ChIP-Seq_ESCs_Human1.78749302
12VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.77764459
13SOX9_24532713_ChIP-Seq_HFSC_Mouse1.74868886
14EGR1_19032775_ChIP-ChIP_M12_Human1.70777868
15CSB_26484114_Chip-Seq_FIBROBLAST_Human1.69853294
16NANOG_20526341_ChIP-Seq_ESCs_Human1.67899048
17CTCF_27219007_Chip-Seq_Bcells_Human1.62428061
18ERG_20517297_ChIP-Seq_VCAP_Human1.58041571
19* P63_20808887_ChIP-Seq_KERATINOCYTES_Human1.55629499
20TP53_20018659_ChIP-ChIP_R1E_Mouse1.55408131
21FOXO3_23340844_ChIP-Seq_DLD1_Human1.54248990
22LXR_22292898_ChIP-Seq_THP-1_Human1.52029472
23RACK7_27058665_Chip-Seq_MCF-7_Human1.51120109
24MNX1_26342078_ChIP-Seq_MIN6-4N_Mouse1.48809855
25TP63_22573176_ChIP-Seq_HFKS_Human1.48627465
26DNAJC2_21179169_ChIP-ChIP_NT2_Human1.47241749
27SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.46990480
28SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.46990480
29BCL6_27268052_Chip-Seq_Bcells_Human1.44329810
30ESR1_21235772_ChIP-Seq_MCF-7_Human1.41563404
31YY1_22570637_ChIP-Seq_MALME-3M_Human1.41121366
32* P53_21459846_ChIP-Seq_SAOS-2_Human1.37519555
33UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.36252866
34BCOR_27268052_Chip-Seq_Bcells_Human1.35180566
35ATF3_27146783_Chip-Seq_COLON_Human1.33874870
36ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.33259886
37CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.33034149
38RARG_19884340_ChIP-ChIP_MEFs_Mouse1.32660605
39ESR2_21235772_ChIP-Seq_MCF-7_Human1.28531275
40SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.25728261
41SUZ12_27294783_Chip-Seq_ESCs_Mouse1.24177189
42PHF8_20622854_ChIP-Seq_HELA_Human1.23989947
43ARNT_22903824_ChIP-Seq_MCF-7_Human1.22246610
44SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.21078875
45KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.19842516
46AHR_22903824_ChIP-Seq_MCF-7_Human1.19200033
47IKZF1_21737484_ChIP-ChIP_HCT116_Human1.18089681
48ELF1_20517297_ChIP-Seq_JURKAT_Human1.17642827
49TRIM28_21343339_ChIP-Seq_HEK293_Human1.17117233
50P68_20966046_ChIP-Seq_HELA_Human1.16659729
51CEBPB_22108803_ChIP-Seq_LS180_Human1.15301517
52KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.14547204
53JARID2_20075857_ChIP-Seq_MESCs_Mouse1.14186129
54PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.10901479
55GATA3_24758297_ChIP-Seq_MCF-7_Human1.09661964
56JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.08675549
57RAC3_21632823_ChIP-Seq_H3396_Human1.08471428
58ELK4_26923725_Chip-Seq_MESODERM_Mouse1.07496022
59TP63_23658742_ChIP-Seq_EP156T_Human1.07448862
60TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.07420339
61P300_27058665_Chip-Seq_ZR-75-30cells_Human1.06131256
62UBF1/2_26484160_Chip-Seq_HMECs_Human1.05640894
63GATA4_25053715_ChIP-Seq_YYC3_Human1.04726320
64JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.04562273
65SA1_27219007_Chip-Seq_ERYTHROID_Human1.03096817
66GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.99027765
67KLF5_25053715_ChIP-Seq_YYC3_Human0.98584099
68SPI1_20517297_ChIP-Seq_HL60_Human0.95814774
69RXRA_24833708_ChIP-Seq_LIVER_Mouse0.95715759
70* SMC4_20622854_ChIP-Seq_HELA_Human0.94829673
71ERG_21242973_ChIP-ChIP_JURKAT_Human0.94358773
72EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.94273771
73SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.94162229
74RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.93208192
75TP53_18474530_ChIP-ChIP_U2OS_Human0.92102512
76RING1B_27294783_Chip-Seq_ESCs_Mouse0.91898662
77* E2F1_17053090_ChIP-ChIP_MCF-7_Human0.91345652
78FOXH1_21741376_ChIP-Seq_ESCs_Human0.91332531
79CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.90296536
80GATA6_21074721_ChIP-Seq_CACO-2_Human0.89711103
81TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.89406305
82CDX2_19796622_ChIP-Seq_MESCs_Mouse0.89010239
83RUNX1_27514584_Chip-Seq_MCF-7_Human0.88119126
84RXR_22108803_ChIP-Seq_LS180_Human0.87858948
85RNF2_27304074_Chip-Seq_ESCs_Mouse0.86856032
86GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human0.84986851
87EZH2_27294783_Chip-Seq_ESCs_Mouse0.84566339
88AR_21572438_ChIP-Seq_LNCaP_Human0.84511385
89* SOX2_21211035_ChIP-Seq_LN229_Human0.83647280
90ZNF263_19887448_ChIP-Seq_K562_Human0.83306710
91SOX2_20726797_ChIP-Seq_SW620_Human0.82960483
92NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.81756844
93ESR1_17901129_ChIP-ChIP_LIVER_Mouse0.78367341
94ZFP281_18757296_ChIP-ChIP_E14_Mouse0.77581992
95VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.76926575
96BMI1_23680149_ChIP-Seq_NPCS_Mouse0.76287590
97SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.76029247
98TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.75106511
99ZNF217_24962896_ChIP-Seq_MCF-7_Human0.74470957
100EZH2_27304074_Chip-Seq_ESCs_Mouse0.74215251

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000579_abnormal_nail_morphology7.61472839
2MP0002098_abnormal_vibrissa_morphology7.11938685
3MP0000647_abnormal_sebaceous_gland6.45237102
4MP0002796_impaired_skin_barrier6.01075543
5MP0005275_abnormal_skin_tensile5.25100650
6MP0010234_abnormal_vibrissa_follicle5.05937955
7MP0000383_abnormal_hair_follicle4.47591341
8MP0000377_abnormal_hair_follicle4.07238514
9MP0010678_abnormal_skin_adnexa3.97138364
10MP0003705_abnormal_hypodermis_morpholog3.79629496
11MP0005501_abnormal_skin_physiology3.76660184
12MP0000427_abnormal_hair_cycle3.54085110
13MP0002254_reproductive_system_inflammat3.02713207
14MP0001216_abnormal_epidermal_layer2.68034939
15MP0004381_abnormal_hair_follicle2.48924638
16MP0000367_abnormal_coat/_hair2.34106864
17MP0010771_integument_phenotype2.31550421
18MP0004947_skin_inflammation2.29820361
19MP0002060_abnormal_skin_morphology2.21060032
20MP0001243_abnormal_dermal_layer2.19549963
21MP0003453_abnormal_keratinocyte_physiol2.13218888
22MP0002234_abnormal_pharynx_morphology2.08591610
23MP0000467_abnormal_esophagus_morphology1.68905750
24MP0009931_abnormal_skin_appearance1.50219226
25MP0009053_abnormal_anal_canal1.47526408
26MP0000762_abnormal_tongue_morphology1.47458363
27MP0003566_abnormal_cell_adhesion1.43199205
28MP0005409_darkened_coat_color1.19985836
29MP0003941_abnormal_skin_development1.18255378
30MP0001191_abnormal_skin_condition0.99948686
31MP0004885_abnormal_endolymph0.93574084
32MP0004185_abnormal_adipocyte_glucose0.89971825
33MP0002095_abnormal_skin_pigmentation0.83125670
34MP0004264_abnormal_extraembryonic_tissu0.82572791
35MP0001851_eye_inflammation0.82371095
36MP0008438_abnormal_cutaneous_collagen0.79880771
37MP0001346_abnormal_lacrimal_gland0.71714675
38MP0001849_ear_inflammation0.68413965
39MP0001340_abnormal_eyelid_morphology0.66113722
40MP0003315_abnormal_perineum_morphology0.65694355
41MP0010030_abnormal_orbit_morphology0.62199882
42MP0002877_abnormal_melanocyte_morpholog0.61552418
43MP0001661_extended_life_span0.61069027
44MP0000566_synostosis0.59060020
45MP0000627_abnormal_mammary_gland0.56116795
46MP0003191_abnormal_cellular_cholesterol0.53906227
47MP0002282_abnormal_trachea_morphology0.50219600
48MP0003755_abnormal_palate_morphology0.49270425
49MP0005451_abnormal_body_composition0.48016027
50MP0002249_abnormal_larynx_morphology0.47775007
51MP0001784_abnormal_fluid_regulation0.46478353
52MP0005023_abnormal_wound_healing0.46430254
53MP0002970_abnormal_white_adipose0.45006848
54MP0000678_abnormal_parathyroid_gland0.43018261
55MP0002111_abnormal_tail_morphology0.40365991
56MP0005075_abnormal_melanosome_morpholog0.34688717
57MP0004272_abnormal_basement_membrane0.33056933
58MP0003385_abnormal_body_wall0.33011498
59MP0002177_abnormal_outer_ear0.32301581
60MP0010352_gastrointestinal_tract_polyps0.32033157
61MP0009379_abnormal_foot_pigmentation0.30666953
62MP0009840_abnormal_foam_cell0.29187870
63MP0000537_abnormal_urethra_morphology0.28478634
64MP0003950_abnormal_plasma_membrane0.25852764
65MP0003763_abnormal_thymus_physiology0.25145893
66MP0002697_abnormal_eye_size0.24402573
67MP0005248_abnormal_Harderian_gland0.23829366
68MP0000465_gastrointestinal_hemorrhage0.23662795
69MP0003329_amyloid_beta_deposits0.22127171
70MP0003300_gastrointestinal_ulcer0.21183605
71MP0004019_abnormal_vitamin_homeostasis0.20319814
72MP0001879_abnormal_lymphatic_vessel0.19861232
73MP0006054_spinal_hemorrhage0.19662437
74MP0000432_abnormal_head_morphology0.18917504
75MP0004742_abnormal_vestibular_system0.17620630
76MP0003935_abnormal_craniofacial_develop0.16081268
77MP0005666_abnormal_adipose_tissue0.15822930
78MP0005375_adipose_tissue_phenotype0.15228265
79MP0005367_renal/urinary_system_phenotyp0.15145905
80MP0000516_abnormal_urinary_system0.15145905
81MP0003448_altered_tumor_morphology0.15039100
82MP0000751_myopathy0.14368276
83MP0004858_abnormal_nervous_system0.13489607
84MP0003011_delayed_dark_adaptation0.13479016
85MP0003638_abnormal_response/metabolism_0.13086368
86MP0000462_abnormal_digestive_system0.12998426
87MP0000733_abnormal_muscle_development0.12346589
88MP0002233_abnormal_nose_morphology0.12266544
89MP0005076_abnormal_cell_differentiation0.11386191
90MP0001958_emphysema0.11005376
91MP0000604_amyloidosis0.10865120
92MP0003045_fibrosis0.09779564
93MP0002006_tumorigenesis0.09450908
94MP0005508_abnormal_skeleton_morphology0.08808093
95MP0005193_abnormal_anterior_eye0.08793691
96MP0003075_altered_response_to0.08743227
97MP0002166_altered_tumor_susceptibility0.08265951
98MP0009384_cardiac_valve_regurgitation0.07720559
99MP0008569_lethality_at_weaning0.07419373
100MP0000013_abnormal_adipose_tissue0.07200239

Predicted human phenotypes

RankGene SetZ-score
1Brittle hair (HP:0002299)9.94630943
2Pili torti (HP:0003777)9.18110367
3Nail dystrophy (HP:0008404)7.17454305
4Abnormality of nail color (HP:0100643)6.16712550
5Abnormal hair laboratory examination (HP:0003328)5.79126586
6Fragile nails (HP:0001808)5.56951031
7Fine hair (HP:0002213)5.12024459
8Onycholysis (HP:0001806)5.02644771
9Increased IgE level (HP:0003212)4.96520792
10Alopecia of scalp (HP:0002293)4.90500726
11Palmoplantar hyperkeratosis (HP:0000972)4.86874730
12Palmar hyperkeratosis (HP:0010765)4.57993094
13Plantar hyperkeratosis (HP:0007556)4.43413953
14Thick nail (HP:0001805)4.41604211
15Right ventricular cardiomyopathy (HP:0011663)4.36262722
16Follicular hyperkeratosis (HP:0007502)4.29616329
17Erythema (HP:0010783)3.67017866
18Sparse eyelashes (HP:0000653)3.58866004
19Oral leukoplakia (HP:0002745)3.32919783
20Amelogenesis imperfecta (HP:0000705)3.16197461
21Abnormality of the frontal sinuses (HP:0002687)3.16024035
22Milia (HP:0001056)3.15561682
23Erythroderma (HP:0001019)3.01816628
24Parakeratosis (HP:0001036)2.88277522
25Curly hair (HP:0002212)2.79026711
26Ridged nail (HP:0001807)2.61759125
27Congenital, generalized hypertrichosis (HP:0004540)2.61371803
28Intention tremor (HP:0002080)2.59646222
29Congenital ichthyosiform erythroderma (HP:0007431)2.54861761
30Neck muscle weakness (HP:0000467)2.50599546
31Aplasia cutis congenita (HP:0001057)2.49766698
32Abnormal blistering of the skin (HP:0008066)2.43884488
33Natal tooth (HP:0000695)2.43506196
34Advanced eruption of teeth (HP:0006288)2.39855668
35Torticollis (HP:0000473)2.34804962
36Dry hair (HP:0011359)2.29212531
37Ventricular tachycardia (HP:0004756)2.09813750
38Hypohidrosis (HP:0000966)2.09475642
39Corneal erosion (HP:0200020)2.09298338
40Palmoplantar keratoderma (HP:0000982)2.03140751
41Hypotrichosis (HP:0001006)14.5892379
42Woolly hair (HP:0002224)11.1976413
43Abnormality of hair growth rate (HP:0011363)10.8128938
44Slow-growing hair (HP:0002217)10.8128938
45Craniofacial dystonia (HP:0012179)1.97736778
46Pruritus (HP:0000989)1.94055883
47Difficulty walking (HP:0002355)1.91764101
48Abnormality of the pupil (HP:0000615)1.85848406
49Ventricular fibrillation (HP:0001663)1.83564579
50Focal dystonia (HP:0004373)1.80607424
51Abnormality of the dental root (HP:0006486)1.80071678
52Taurodontia (HP:0000679)1.80071678
53Abnormality of permanent molar morphology (HP:0011071)1.80071678
54Abnormality of molar morphology (HP:0011070)1.78471094
55Abnormality of molar (HP:0011077)1.78471094
56Abnormality of the parietal bone (HP:0002696)1.77483763
57Concave nail (HP:0001598)1.77201193
58Abnormality of dental color (HP:0011073)1.76932195
59Conjunctival hamartoma (HP:0100780)1.76324725
60Widely patent fontanelles and sutures (HP:0004492)1.70168658
61Unilateral renal agenesis (HP:0000122)1.66011999
62Hyporeflexia of lower limbs (HP:0002600)1.65974854
63Absent eyelashes (HP:0000561)1.64497312
64Recurrent corneal erosions (HP:0000495)1.62564073
65Fatigable weakness (HP:0003473)1.58742160
66Abnormality of the neuromuscular junction (HP:0003398)1.58742160
67Abnormality of the aortic arch (HP:0012303)1.58149482
68Abnormality of the dental pulp (HP:0006479)1.57454123
69Blepharitis (HP:0000498)1.57052504
70Sudden death (HP:0001699)1.53925867
71Abnormality of placental membranes (HP:0011409)1.48329560
72Amniotic constriction ring (HP:0009775)1.48329560
73Acanthosis nigricans (HP:0000956)1.48313029
74Hypergammaglobulinemia (HP:0010702)1.45470597
75Lip pit (HP:0100267)1.42672137
76Round ear (HP:0100830)1.41198960
77Carious teeth (HP:0000670)1.40511047
78Distal lower limb muscle weakness (HP:0009053)1.40358459
79Gangrene (HP:0100758)1.38381274
80Heterogeneous (HP:0001425)1.38304901
81Craniofacial hyperostosis (HP:0004493)1.37501769
82Keratoconjunctivitis sicca (HP:0001097)1.37311567
83Type 1 muscle fiber predominance (HP:0003803)1.36695552
84Ectropion (HP:0000656)1.36103983
85Anonychia (HP:0001798)1.35008458
86Achilles tendon contracture (HP:0001771)1.33816335
87Autoamputation (HP:0001218)1.29531999
88Increased connective tissue (HP:0009025)1.26728420
89Abnormality of the fingernails (HP:0001231)1.26316076
90Atrophic scars (HP:0001075)1.26104089
91Abnormality of the Achilles tendon (HP:0005109)1.25549297
92Laryngomalacia (HP:0001601)1.20848020
93Keratoconjunctivitis (HP:0001096)1.20571982
94Neonatal onset (HP:0003623)1.20131317
95Widely spaced teeth (HP:0000687)1.18772614
96Selective tooth agenesis (HP:0001592)1.18644901
97Sparse scalp hair (HP:0002209)1.17869515
98Abnormality of the gastric mucosa (HP:0004295)1.16357448
99Lack of skin elasticity (HP:0100679)1.15848742
100Variable expressivity (HP:0003828)1.14735058

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FER4.30319751
2EPHA24.23987244
3MAPKAPK33.98529589
4ERN13.80113892
5MAP3K63.69488995
6EPHB23.22249662
7TAOK13.09194574
8MAP3K32.78859248
9TRIB32.69486225
10LATS12.43895339
11MAP3K22.31909388
12PIK3CG2.11326036
13MAP3K112.07638066
14TTN2.06290816
15RPS6KB21.93353975
16EEF2K1.86513627
17EPHB11.73629397
18LATS21.61905576
19MAP2K61.55555384
20BCR1.39256204
21FGFR41.30599941
22MAP3K11.30338166
23NME11.27586892
24BLK1.26478072
25FGFR21.23839722
26FGFR11.23379644
27RIPK11.22997070
28BMX1.22988302
29MAP2K31.21447281
30KSR21.14248393
31CDK61.13552312
32PKN21.13347889
33MST1R1.11974340
34MAPKAPK21.08799344
35OBSCN1.07278338
36PDGFRA1.05930662
37SIK11.03249172
38FGFR31.02929066
39MAP3K71.02875509
40PTK60.96868090
41LRRK20.95329444
42PBK0.89389833
43PTK20.85467139
44MAP3K90.84044961
45MAP2K40.83200279
46RPS6KA40.78415400
47STK380.75245229
48MAP2K10.74321228
49STK38L0.71949793
50DYRK1B0.71932088
51PRKD10.70295673
52PIM20.67809375
53CDK190.67799690
54PAK40.66968073
55PAK30.66166481
56MET0.65899733
57DDR20.65641696
58MAP3K100.63544200
59TESK10.60788143
60EPHA30.57647204
61NTRK20.55311369
62TRPM70.54946271
63PRKCI0.54156651
64JAK10.53853199
65PRKCH0.53477622
66PAK60.52707173
67ERBB40.51191262
68MAP3K50.50656317
69PAK20.50539187
70TYRO30.50120691
71RET0.49615592
72MAPK120.46781592
73ERBB20.46544990
74TYK20.45908336
75RPS6KA10.44837858
76TGFBR10.43140359
77ALK0.41462188
78GSK3A0.40603317
79NEK10.39088145
80PHKG20.38446048
81PHKG10.38446048
82MAP2K20.38154413
83CSNK1E0.37164458
84CLK10.34977638
85JAK20.34106711
86FYN0.30730622
87GRK60.30294317
88MST40.29648142
89TGFBR20.28633852
90MAP3K80.28116176
91LIMK10.24852721
92SRC0.24593033
93CSNK1A10.24540372
94STK110.24330187
95HCK0.22544080
96ILK0.22214662
97PRKACG0.22114548
98PRKACA0.21757593
99ICK0.21688445
100ROCK20.21039827

Predicted pathways (KEGG)

RankGene SetZ-score
1alpha-Linolenic acid metabolism_Homo sapiens_hsa005924.67584427
2Linoleic acid metabolism_Homo sapiens_hsa005914.62563539
3Fat digestion and absorption_Homo sapiens_hsa049753.09695556
4Fatty acid elongation_Homo sapiens_hsa000622.99531187
5Ether lipid metabolism_Homo sapiens_hsa005652.45094076
6Basal cell carcinoma_Homo sapiens_hsa052172.26043636
7Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.93045233
8Phenylalanine metabolism_Homo sapiens_hsa003601.86638941
9Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.79448282
10Arachidonic acid metabolism_Homo sapiens_hsa005901.75144117
11VEGF signaling pathway_Homo sapiens_hsa043701.66097713
12Axon guidance_Homo sapiens_hsa043601.58848070
13Melanogenesis_Homo sapiens_hsa049161.58725338
14Hedgehog signaling pathway_Homo sapiens_hsa043401.38765461
15Caffeine metabolism_Homo sapiens_hsa002321.38112642
16Histidine metabolism_Homo sapiens_hsa003401.37781980
17Glioma_Homo sapiens_hsa052141.34445868
18Bladder cancer_Homo sapiens_hsa052191.29747290
19Vascular smooth muscle contraction_Homo sapiens_hsa042701.28905455
20Proteoglycans in cancer_Homo sapiens_hsa052051.28278249
21Thyroid cancer_Homo sapiens_hsa052161.25475622
22Acute myeloid leukemia_Homo sapiens_hsa052211.24559126
23Hippo signaling pathway_Homo sapiens_hsa043901.23627714
24GnRH signaling pathway_Homo sapiens_hsa049121.22762144
25Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.22615257
26Tight junction_Homo sapiens_hsa045301.16366589
27Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.14222706
28Dorso-ventral axis formation_Homo sapiens_hsa043201.11754697
29Pancreatic secretion_Homo sapiens_hsa049721.08993650
30Steroid biosynthesis_Homo sapiens_hsa001001.08737465
31Mineral absorption_Homo sapiens_hsa049781.05791762
32PPAR signaling pathway_Homo sapiens_hsa033201.04579967
33ECM-receptor interaction_Homo sapiens_hsa045121.04275317
34Adherens junction_Homo sapiens_hsa045201.01880529
35Long-term potentiation_Homo sapiens_hsa047200.97200514
36Nitrogen metabolism_Homo sapiens_hsa009100.95134264
37Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.91503683
38Tyrosine metabolism_Homo sapiens_hsa003500.90651435
39Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.90424509
40Glycerophospholipid metabolism_Homo sapiens_hsa005640.87443942
41Endometrial cancer_Homo sapiens_hsa052130.86953623
42Non-small cell lung cancer_Homo sapiens_hsa052230.85828677
43Pertussis_Homo sapiens_hsa051330.84507267
44Amoebiasis_Homo sapiens_hsa051460.83398326
45Leukocyte transendothelial migration_Homo sapiens_hsa046700.81876524
46Estrogen signaling pathway_Homo sapiens_hsa049150.81784568
47Ras signaling pathway_Homo sapiens_hsa040140.81205419
48beta-Alanine metabolism_Homo sapiens_hsa004100.81131819
49Long-term depression_Homo sapiens_hsa047300.79437304
50Wnt signaling pathway_Homo sapiens_hsa043100.79216534
51Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.73685216
52Gastric acid secretion_Homo sapiens_hsa049710.72615807
53Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.72326028
54Phototransduction_Homo sapiens_hsa047440.72261136
55Staphylococcus aureus infection_Homo sapiens_hsa051500.70478392
56Renin secretion_Homo sapiens_hsa049240.67806378
57Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.66665359
58Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.65531630
59Sphingolipid signaling pathway_Homo sapiens_hsa040710.64412852
60AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.64381622
61Fatty acid metabolism_Homo sapiens_hsa012120.63362021
62Insulin resistance_Homo sapiens_hsa049310.62929710
63MicroRNAs in cancer_Homo sapiens_hsa052060.61973365
64Cyanoamino acid metabolism_Homo sapiens_hsa004600.61223947
65Protein digestion and absorption_Homo sapiens_hsa049740.56670462
66Hepatitis C_Homo sapiens_hsa051600.56129924
67Rap1 signaling pathway_Homo sapiens_hsa040150.56077748
68Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.55045368
69Focal adhesion_Homo sapiens_hsa045100.54941254
70Neurotrophin signaling pathway_Homo sapiens_hsa047220.54462421
71Salivary secretion_Homo sapiens_hsa049700.54053749
72Gap junction_Homo sapiens_hsa045400.52490119
73Salmonella infection_Homo sapiens_hsa051320.51461082
74Oxytocin signaling pathway_Homo sapiens_hsa049210.51043538
75Platelet activation_Homo sapiens_hsa046110.49711739
76Central carbon metabolism in cancer_Homo sapiens_hsa052300.49315013
77Renal cell carcinoma_Homo sapiens_hsa052110.48183148
78Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.47802898
79ErbB signaling pathway_Homo sapiens_hsa040120.46240738
80Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.45390053
81Fatty acid degradation_Homo sapiens_hsa000710.45271824
82Notch signaling pathway_Homo sapiens_hsa043300.43508361
83Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.43108133
84Butanoate metabolism_Homo sapiens_hsa006500.43096290
85Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.42238858
86TGF-beta signaling pathway_Homo sapiens_hsa043500.41926329
87Chemical carcinogenesis_Homo sapiens_hsa052040.41631395
88Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.41582812
89Tuberculosis_Homo sapiens_hsa051520.39482755
90Toxoplasmosis_Homo sapiens_hsa051450.39287146
91Chronic myeloid leukemia_Homo sapiens_hsa052200.39163287
92Insulin signaling pathway_Homo sapiens_hsa049100.38439462
93Prion diseases_Homo sapiens_hsa050200.38221484
94Olfactory transduction_Homo sapiens_hsa047400.38126671
95Prolactin signaling pathway_Homo sapiens_hsa049170.37740193
96Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.34185241
97Regulation of actin cytoskeleton_Homo sapiens_hsa048100.33968165
98Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.33733225
99Melanoma_Homo sapiens_hsa052180.32887889
100Dilated cardiomyopathy_Homo sapiens_hsa054140.31357353

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