BPIFA2

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





Description: This gene encodes a member of the palate, lung and nasal epithelium clone (Plunc) family of proteins. Members of this family have been proposed to play a role in the local antibacterial response in nose, mouth and upper respiratory pathways. The encoded soluble salivary protein binds bacterial lipopolysaccharide (LPS) and inhibits bacterial growth. This gene is present in a gene cluster on chromosome 20. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1positive regulation of tolerance induction (GO:0002645)9.94686256
2interferon-gamma secretion (GO:0072643)8.98823108
3regulation of tolerance induction (GO:0002643)8.62097656
4detection of chemical stimulus involved in sensory perception of taste (GO:0050912)7.95064443
5kynurenine metabolic process (GO:0070189)7.71323417
6negative regulation of T cell apoptotic process (GO:0070233)7.48037789
7retina homeostasis (GO:0001895)7.18312839
8regulation of chronic inflammatory response (GO:0002676)6.93148095
9detection of chemical stimulus involved in sensory perception (GO:0050907)6.84809489
10indole-containing compound catabolic process (GO:0042436)6.75375422
11indolalkylamine catabolic process (GO:0046218)6.75375422
12tryptophan catabolic process (GO:0006569)6.75375422
13tryptophan metabolic process (GO:0006568)5.98276169
14negative regulation of interleukin-10 production (GO:0032693)5.83780287
15positive regulation of type 2 immune response (GO:0002830)5.75130084
16regulation of chemokine secretion (GO:0090196)5.34847208
17negative regulation of inclusion body assembly (GO:0090084)5.14341316
18negative regulation of lymphocyte apoptotic process (GO:0070229)4.95717766
19aromatic amino acid family catabolic process (GO:0009074)4.55993288
20chaperone mediated protein folding requiring cofactor (GO:0051085)4.55571719
21regulation of sensory perception of pain (GO:0051930)4.46156151
22regulation of sensory perception (GO:0051931)4.46156151
23indolalkylamine metabolic process (GO:0006586)4.29928086
24lung lobe morphogenesis (GO:0060463)4.25207279
25negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)4.14114596
26intestinal epithelial cell development (GO:0060576)4.10569497
27positive regulation of Rho protein signal transduction (GO:0035025)4.02902778
28cellular biogenic amine catabolic process (GO:0042402)3.97622054
29amine catabolic process (GO:0009310)3.97622054
30regulation of T cell apoptotic process (GO:0070232)3.96186128
31positive regulation of pseudopodium assembly (GO:0031274)3.81572016
32positive regulation of actin filament depolymerization (GO:0030836)3.78408108
33glial cell proliferation (GO:0014009)3.77687918
34wound healing, spreading of epidermal cells (GO:0035313)3.72944871
35negative regulation of keratinocyte proliferation (GO:0010839)3.68984360
36mammary gland alveolus development (GO:0060749)3.64339009
37skin morphogenesis (GO:0043589)3.61215021
38lung vasculature development (GO:0060426)3.52727752
39regulation of cytokine secretion involved in immune response (GO:0002739)3.50425838
40negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)3.47882884
41benzene-containing compound metabolic process (GO:0042537)3.46945767
42negative regulation of leukocyte apoptotic process (GO:2000107)3.44773759
43prostate gland growth (GO:0060736)3.43186424
44ovulation from ovarian follicle (GO:0001542)3.40698865
45thrombin receptor signaling pathway (GO:0070493)3.29327895
46parturition (GO:0007567)3.28756567
47regulation of pseudopodium assembly (GO:0031272)3.24893973
48establishment of endothelial barrier (GO:0061028)3.23154741
49wound healing, spreading of cells (GO:0044319)3.16796389
50activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)3.08869764
51muscle organ morphogenesis (GO:0048644)3.05640653
52regulation of superoxide anion generation (GO:0032928)3.04609597
53positive regulation of interleukin-8 secretion (GO:2000484)2.93164990
54aromatic amino acid family metabolic process (GO:0009072)2.92928371
55regulation of type 2 immune response (GO:0002828)2.92002225
56keratinocyte development (GO:0003334)2.88598687
57indole-containing compound metabolic process (GO:0042430)2.83544569
58branching involved in mammary gland duct morphogenesis (GO:0060444)2.83234426
59negative regulation of smooth muscle cell migration (GO:0014912)2.80904754
60regulation of glomerular filtration (GO:0003093)2.75470408
61epithelial cell differentiation involved in prostate gland development (GO:0060742)2.74618856
62regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060211)2.68995714
63positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)2.68995714
64regulation of inclusion body assembly (GO:0090083)2.68530302
65growth hormone receptor signaling pathway (GO:0060396)2.62100898
66protein targeting to Golgi (GO:0000042)2.59515365
67positive regulation of astrocyte differentiation (GO:0048711)2.58316793
68ether lipid metabolic process (GO:0046485)2.58220518
69mammary gland epithelial cell differentiation (GO:0060644)2.56153004
70mitotic sister chromatid cohesion (GO:0007064)2.54029812
71interleukin-6-mediated signaling pathway (GO:0070102)2.48523871
72regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)2.46745828
73positive regulation of protein export from nucleus (GO:0046827)2.46409560
74regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900151)2.44667256
75positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO2.44667256
76regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.42518723
77protein refolding (GO:0042026)2.40978152
78regulation of lymphocyte apoptotic process (GO:0070228)2.39739883
79localization within membrane (GO:0051668)2.39427133
80Sertoli cell development (GO:0060009)2.38151105
81regulation of toll-like receptor 4 signaling pathway (GO:0034143)2.37312734
82positive regulation of interleukin-12 production (GO:0032735)2.36346671
83regulation of clathrin-mediated endocytosis (GO:2000369)2.36160445
84dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.34839086
85ER overload response (GO:0006983)2.32223635
86positive regulation of regulated secretory pathway (GO:1903307)2.31850577
87negative regulation of receptor-mediated endocytosis (GO:0048261)2.30611884
88positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)2.28570082
89hepatocyte apoptotic process (GO:0097284)2.28018952
90positive regulation of leukocyte degranulation (GO:0043302)2.27798746
91regulation of neurological system process (GO:0031644)2.27286117
92negative regulation of potassium ion transmembrane transporter activity (GO:1901017)2.26249505
93hydrogen peroxide catabolic process (GO:0042744)2.25956013
94regulation of water loss via skin (GO:0033561)2.23465266
95bundle of His cell to Purkinje myocyte communication (GO:0086069)2.23402180
96retrograde transport, vesicle recycling within Golgi (GO:0000301)2.23398566
97establishment of protein localization to Golgi (GO:0072600)2.21825219
98detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)14.2277393
99production of molecular mediator involved in inflammatory response (GO:0002532)13.0461068
100regulation of T cell tolerance induction (GO:0002664)11.7360124

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_20079471_ChIP-ChIP_T-47D_Human3.84991126
2TP63_17297297_ChIP-ChIP_HaCaT_Human3.23367666
3ZNF217_24962896_ChIP-Seq_MCF-7_Human2.76937288
4FOXO3_23340844_ChIP-Seq_DLD1_Human2.67069696
5TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.66728825
6SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.54475879
7FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.48048959
8ESR1_21235772_ChIP-Seq_MCF-7_Human2.46145485
9CDX2_19796622_ChIP-Seq_MESCs_Mouse2.44703009
10TRIM28_21343339_ChIP-Seq_HEK293_Human2.39729190
11NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.34876272
12ESR2_21235772_ChIP-Seq_MCF-7_Human2.33495060
13PIAS1_25552417_ChIP-Seq_VCAP_Human2.23021293
14CLOCK_20551151_ChIP-Seq_293T_Human2.07493890
15AR_21909140_ChIP-Seq_LNCAP_Human2.03703019
16TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.03291985
17FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human2.02583447
18EGR1_19374776_ChIP-ChIP_THP-1_Human2.02030591
19TAF15_26573619_Chip-Seq_HEK293_Human2.00040544
20HIF1A_21447827_ChIP-Seq_MCF-7_Human1.94970549
21SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.91769823
22STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.84889686
23ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.84443178
24STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.82459712
25CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.76127465
26RXR_22158963_ChIP-Seq_LIVER_Mouse1.71516958
27POU3F2_20337985_ChIP-ChIP_501MEL_Human1.61552201
28ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.61243199
29PPAR_26484153_Chip-Seq_NCI-H1993_Human1.54669243
30NRF2_20460467_ChIP-Seq_MEFs_Mouse1.54569217
31NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.54569217
32FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.54072108
33TP53_16413492_ChIP-PET_HCT116_Human1.52509105
34SALL1_21062744_ChIP-ChIP_HESCs_Human1.52126447
35AHR_22903824_ChIP-Seq_MCF-7_Human1.49477974
36FOXM1_26456572_ChIP-Seq_MCF-7_Human1.47302205
37RXR_22108803_ChIP-Seq_LS180_Human1.46363947
38AR_21572438_ChIP-Seq_LNCaP_Human1.44946095
39ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.43918822
40TCF4_18268006_ChIP-ChIP_LS174T_Human1.43374521
41LXR_22158963_ChIP-Seq_LIVER_Mouse1.42932350
42ARNT_22903824_ChIP-Seq_MCF-7_Human1.42450915
43CTNNB1_20460455_ChIP-Seq_HCT116_Human1.38871769
44NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.35647092
45EP300_21415370_ChIP-Seq_HL-1_Mouse1.35637490
46CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.35236284
47SOX2_20726797_ChIP-Seq_SW620_Human1.35053113
48CJUN_26792858_Chip-Seq_BT549_Human1.34180439
49SALL4_18804426_ChIP-ChIP_XEN_Mouse1.32868167
50AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.32663248
51GATA1_22025678_ChIP-Seq_K562_Human1.32582387
52SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.31423506
53AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.30848793
54WT1_19549856_ChIP-ChIP_CCG9911_Human1.30597722
55RBPJ_22232070_ChIP-Seq_NCS_Mouse1.28273208
56OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.27730114
57SOX2_27498859_Chip-Seq_STOMACH_Mouse1.27688884
58TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.25799373
59SOX9_24532713_ChIP-Seq_HFSC_Mouse1.23407059
60FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human1.22846961
61SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.22246123
62SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.22246123
63WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.19294242
64SMAD_19615063_ChIP-ChIP_OVARY_Human1.19144436
65ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.18977270
66FOXA2_19822575_ChIP-Seq_HepG2_Human1.18242608
67TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.15538966
68GATA3_24758297_ChIP-Seq_MCF-7_Human1.15243519
69FUS_26573619_Chip-Seq_HEK293_Human1.15044315
70RUNX1_27514584_Chip-Seq_MCF-7_Human1.14839126
71RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.13385782
72FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human1.13377986
73FOXA1_25552417_ChIP-Seq_VCAP_Human1.13257714
74STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.12936487
75PPARA_22158963_ChIP-Seq_LIVER_Mouse1.11251603
76TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.08076138
77KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.05804025
78TP53_18474530_ChIP-ChIP_U2OS_Human1.05331409
79EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.04933464
80GATA4_25053715_ChIP-Seq_YYC3_Human1.04497545
81RARG_19884340_ChIP-ChIP_MEFs_Mouse1.00814693
82Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.00746614
83GATA6_25053715_ChIP-Seq_YYC3_Human1.00013167
84GATA2_21666600_ChIP-Seq_HMVEC_Human0.98487476
85VDR_24787735_ChIP-Seq_THP-1_Human0.98146529
86TP63_23658742_ChIP-Seq_EP156T_Human0.97230368
87BRD4_25478319_ChIP-Seq_HGPS_Human0.96343929
88CDX2_20551321_ChIP-Seq_CACO-2_Human0.93747459
89SMAD3_21741376_ChIP-Seq_HESCs_Human0.93468928
90KLF5_20875108_ChIP-Seq_MESCs_Mouse0.93235559
91WT1_25993318_ChIP-Seq_PODOCYTE_Human0.92910436
92ESR1_15608294_ChIP-ChIP_MCF-7_Human0.92085286
93PKCTHETA_26484144_Chip-Seq_BREAST_Human0.89678357
94ZNF263_19887448_ChIP-Seq_K562_Human0.88908971
95LMO2_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.88760120
96CDX2_22108803_ChIP-Seq_LS180_Human0.88684524
97BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.87821815
98STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.87462466
99SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.86135148
100KDM2B_26808549_Chip-Seq_REH_Human0.86097912

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001346_abnormal_lacrimal_gland6.28308373
2MP0002254_reproductive_system_inflammat5.25943953
3MP0005248_abnormal_Harderian_gland5.04541189
4MP0002896_abnormal_bone_mineralization4.02580412
5MP0001533_abnormal_skeleton_physiology3.13268146
6MP0009053_abnormal_anal_canal3.12964841
7MP0001881_abnormal_mammary_gland3.08369613
8MP0003300_gastrointestinal_ulcer2.81092147
9MP0003566_abnormal_cell_adhesion2.77519959
10MP0004264_abnormal_extraembryonic_tissu2.75626059
11MP0002009_preneoplasia2.41051692
12MP0005085_abnormal_gallbladder_physiolo2.36702027
13MP0009780_abnormal_chondrocyte_physiolo2.24772709
14MP0000627_abnormal_mammary_gland2.15811792
15MP0000537_abnormal_urethra_morphology2.09290535
16MP0002006_tumorigenesis2.01236350
17MP0010234_abnormal_vibrissa_follicle1.84894452
18MP0002234_abnormal_pharynx_morphology1.84119959
19MP0010030_abnormal_orbit_morphology1.79855114
20MP0005390_skeleton_phenotype1.79628950
21MP0009764_decreased_sensitivity_to1.65373131
22MP0002098_abnormal_vibrissa_morphology1.65227631
23MP0000566_synostosis1.62433057
24MP0000427_abnormal_hair_cycle1.53815560
25MP0003941_abnormal_skin_development1.48773084
26MP0010678_abnormal_skin_adnexa1.46397254
27MP0003787_abnormal_imprinting1.43784814
28MP0002115_abnormal_skeleton_extremities1.39647077
29MP0000579_abnormal_nail_morphology1.38241209
30MP0005379_endocrine/exocrine_gland_phen1.37487348
31MP0001919_abnormal_reproductive_system1.37284545
32MP0003315_abnormal_perineum_morphology1.36648377
33MP0004883_abnormal_blood_vessel1.35457737
34MP0004272_abnormal_basement_membrane1.34361823
35MP0004947_skin_inflammation1.32272267
36MP0003795_abnormal_bone_structure1.28861959
37MP0001851_eye_inflammation1.26254149
38MP0005166_decreased_susceptibility_to1.24355162
39MP0000383_abnormal_hair_follicle1.22235762
40MP0003075_altered_response_to1.21635959
41MP0000462_abnormal_digestive_system1.19003886
42MP0005165_increased_susceptibility_to1.18117360
43MP0003828_pulmonary_edema1.17551877
44MP0001853_heart_inflammation1.15270138
45MP0001299_abnormal_eye_distance/1.12854402
46MP0005187_abnormal_penis_morphology1.09236378
47MP0010352_gastrointestinal_tract_polyps1.08702757
48MP0002933_joint_inflammation1.07435760
49MP0000613_abnormal_salivary_gland1.06966520
50MP0000762_abnormal_tongue_morphology1.06764627
51MP0000003_abnormal_adipose_tissue1.04532325
52MP0001340_abnormal_eyelid_morphology1.04498376
53MP0002282_abnormal_trachea_morphology1.01327928
54MP0001177_atelectasis0.99836048
55MP0005332_abnormal_amino_acid0.97959772
56MP0005365_abnormal_bile_salt0.97723340
57MP0002113_abnormal_skeleton_development0.97060845
58MP0003936_abnormal_reproductive_system0.96050226
59MP0005275_abnormal_skin_tensile0.91493397
60MP0003091_abnormal_cell_migration0.91223574
61MP0003690_abnormal_glial_cell0.89999749
62MP0002060_abnormal_skin_morphology0.89064526
63MP0005623_abnormal_meninges_morphology0.88635632
64MP0003045_fibrosis0.88301308
65MP0002796_impaired_skin_barrier0.87493573
66MP0000377_abnormal_hair_follicle0.87412677
67MP0001666_abnormal_nutrient_absorption0.83555765
68MP0004270_analgesia0.82711636
69MP0009765_abnormal_xenobiotic_induced0.82223745
70MP0002109_abnormal_limb_morphology0.81566096
71MP0004185_abnormal_adipocyte_glucose0.81278495
72MP0002166_altered_tumor_susceptibility0.79777629
73MP0005164_abnormal_response_to0.78191491
74MP0009384_cardiac_valve_regurgitation0.77641358
75MP0005360_urolithiasis0.76200130
76MP0005501_abnormal_skin_physiology0.74009027
77MP0000465_gastrointestinal_hemorrhage0.72058083
78MP0001216_abnormal_epidermal_layer0.70394615
79MP0005388_respiratory_system_phenotype0.70390557
80MP0002133_abnormal_respiratory_system0.70390557
81MP0001765_abnormal_ion_homeostasis0.67175951
82MP0000920_abnormal_myelination0.67092084
83MP0010771_integument_phenotype0.66947915
84MP0003303_peritoneal_inflammation0.66756488
85MP0003453_abnormal_keratinocyte_physiol0.65976437
86MP0006054_spinal_hemorrhage0.65948981
87MP0004130_abnormal_muscle_cell0.65511996
88MP0005508_abnormal_skeleton_morphology0.63821042
89MP0008438_abnormal_cutaneous_collagen0.63684876
90MP0005220_abnormal_exocrine_pancreas0.63423350
91MP0004484_altered_response_of0.63031208
92MP0005503_abnormal_tendon_morphology0.62404203
93MP0002877_abnormal_melanocyte_morpholog0.62268238
94MP0000767_abnormal_smooth_muscle0.61674653
95MP0000858_altered_metastatic_potential0.60058955
96MP0003705_abnormal_hypodermis_morpholog0.60004347
97MP0002233_abnormal_nose_morphology0.59186681
98MP0001191_abnormal_skin_condition0.58708751
99MP0001944_abnormal_pancreas_morphology0.56752941
100MP0005375_adipose_tissue_phenotype0.56389031

Predicted human phenotypes

RankGene SetZ-score
1Stomach cancer (HP:0012126)4.10919027
2Right ventricular cardiomyopathy (HP:0011663)3.90585518
3Hypoplastic labia majora (HP:0000059)3.84950568
4Oligomenorrhea (HP:0000876)3.84850852
5Abnormality of the phalanges of the 2nd finger (HP:0009541)3.43583941
6Abnormality of the labia majora (HP:0012881)3.39545567
7Volvulus (HP:0002580)3.34057403
8Rectal prolapse (HP:0002035)3.27683995
9Broad metatarsal (HP:0001783)3.08152558
10Submucous cleft hard palate (HP:0000176)3.03402484
11Shallow orbits (HP:0000586)3.01686671
12Prostate neoplasm (HP:0100787)2.91041752
13Bronchomalacia (HP:0002780)2.89947337
14Synostosis involving the elbow (HP:0003938)2.86379810
15Humeroradial synostosis (HP:0003041)2.86379810
16Menorrhagia (HP:0000132)2.73125205
17Cardiovascular calcification (HP:0011915)2.70136732
18Vascular calcification (HP:0004934)2.64986990
19Sensorimotor neuropathy (HP:0007141)2.61054976
20Abnormality of the proximal phalanges of the hand (HP:0009834)2.61042976
21Short humerus (HP:0005792)2.60421429
22Aortic aneurysm (HP:0004942)2.54218598
23Infantile muscular hypotonia (HP:0008947)2.53582566
24Biliary tract neoplasm (HP:0100574)2.51899460
25Turricephaly (HP:0000262)2.50782538
26Coronal craniosynostosis (HP:0004440)2.49984287
27Premature skin wrinkling (HP:0100678)2.48859375
28Labial hypoplasia (HP:0000066)2.46165867
29Abnormality of the 2nd finger (HP:0004100)2.44100619
30Abnormality of the nasal septum (HP:0000419)2.42861174
31Atrophic scars (HP:0001075)2.42715720
32Abnormality of the labia minora (HP:0012880)2.42244795
33Deep venous thrombosis (HP:0002625)2.39629384
34Abnormality of the common coagulation pathway (HP:0010990)2.38061710
35Hypoplastic ischia (HP:0003175)2.32487352
36Spastic diplegia (HP:0001264)2.31830860
37Absent phalangeal crease (HP:0006109)2.30825205
38Aplasia/hypoplasia of the humerus (HP:0006507)2.30442872
39Short hallux (HP:0010109)2.27660713
40Abnormality of the ischium (HP:0003174)2.26931332
41Aplasia involving bones of the extremities (HP:0009825)2.24388166
42Aplasia involving bones of the upper limbs (HP:0009823)2.24388166
43Aplasia of the phalanges of the hand (HP:0009802)2.24388166
442-3 toe syndactyly (HP:0004691)2.22534509
45Chin dimple (HP:0010751)2.17963024
46Alacrima (HP:0000522)2.17082021
47Abnormality of the middle phalanges of the toes (HP:0010183)2.16696499
48Subacute progressive viral hepatitis (HP:0006572)2.15596703
49Axonal loss (HP:0003447)2.14434546
50Narrow palate (HP:0000189)2.14081537
51Stenosis of the external auditory canal (HP:0000402)2.13269524
52Autoamputation (HP:0001218)2.11372948
53Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)2.09432276
54Short 1st metacarpal (HP:0010034)2.09432276
55Lip pit (HP:0100267)2.09230419
56Fibular aplasia (HP:0002990)2.08617292
57Macroorchidism (HP:0000053)2.07470378
58Hyporeflexia of lower limbs (HP:0002600)2.06177190
59Thoracolumbar scoliosis (HP:0002944)2.05715891
60Hypochromic microcytic anemia (HP:0004840)2.04865433
61Buphthalmos (HP:0000557)2.04467833
62Cutaneous finger syndactyly (HP:0010554)2.04082963
63Hypoplastic female external genitalia (HP:0012815)2.04068455
64Aplasia/Hypoplasia of the hallux (HP:0008362)2.03320012
65Short metatarsal (HP:0010743)2.02799976
66Bell-shaped thorax (HP:0001591)2.02760240
67Symphalangism affecting the phalanges of the hand (HP:0009773)2.02689252
68Increased CSF protein (HP:0002922)2.01753592
69Fibular hypoplasia (HP:0003038)2.01482340
70Hypoplasia of dental enamel (HP:0006297)2.00407206
71Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)2.00329542
72Popliteal pterygium (HP:0009756)1.98197671
73Protrusio acetabuli (HP:0003179)1.95840455
74Camptodactyly of toe (HP:0001836)1.93809776
75Cortical dysplasia (HP:0002539)1.92060135
76Hepatoblastoma (HP:0002884)1.87440181
77Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.87276299
78Milia (HP:0001056)1.87070418
79Bowed forearm bones (HP:0003956)1.83709276
80Bowing of the arm (HP:0006488)1.83709276
81Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)1.82245056
82Aneurysm (HP:0002617)1.81474172
83Pterygium (HP:0001059)1.80897981
84Sparse lateral eyebrow (HP:0005338)1.80632453
85Abnormal finger flexion creases (HP:0006143)1.80266728
86Aplasia/Hypoplasia of metatarsal bones (HP:0001964)1.78760329
87Mesomelia (HP:0003027)1.77681408
88Ankyloglossia (HP:0010296)1.76952956
89Abnormality of the 1st metacarpal (HP:0010009)1.75960983
90Wide anterior fontanel (HP:0000260)1.73907918
91Aplasia/Hypoplasia of the phalanges of the thumb (HP:0009658)1.69775813
92Osteolytic defects of the hand bones (HP:0009699)1.69543923
93Osteolytic defects of the phalanges of the hand (HP:0009771)1.69543923
94Ulnar bowing (HP:0003031)1.66906504
95Abnormality of the salivary glands (HP:0010286)1.65316778
96Neoplasm of the small intestine (HP:0100833)1.65263736
97Urethral obstruction (HP:0000796)1.65213176
98Knee flexion contracture (HP:0006380)1.65181826
99Intrahepatic cholestasis (HP:0001406)1.65077650
100Xanthomatosis (HP:0000991)1.62914436

Predicted kinase interactions (KEA)

RankGene SetZ-score
1STK396.13281621
2MAPKAPK54.34608428
3LATS13.73176310
4TSSK63.64863189
5NEK93.03627939
6FGFR22.83941669
7EPHA22.80747369
8OXSR12.79610520
9EPHA32.68058991
10MST42.44094414
11EPHB12.38020242
12MAP3K22.30895366
13DMPK2.25418664
14MAP3K32.16202284
15PIK3CA1.95984270
16WNK41.87942087
17FER1.77961873
18RIPK11.50348189
19RPS6KA41.32911268
20PTK61.29354177
21ERBB31.28773914
22MET1.28165565
23BCKDK1.15642135
24MST1R1.08182165
25FGFR41.06261946
26NUAK11.03569800
27FGFR31.00689802
28JAK20.97228370
29STK30.96907342
30PDGFRB0.96512301
31CDK60.94644854
32ALK0.93871592
33SIK10.92317889
34LATS20.87865964
35RPS6KB20.87150692
36HIPK20.86168770
37MAP2K40.85411216
38LMTK20.85318284
39FGFR10.84199015
40FRK0.82748197
41WNK10.82007455
42MAP3K40.78486112
43PDGFRA0.77934995
44BCR0.73957696
45JAK10.73131423
46MAP3K90.72841858
47PLK20.70827658
48CDK120.67960964
49RET0.66962025
50INSRR0.66285236
51GSK3A0.64404603
52NTRK10.59614830
53NTRK30.59399654
54MINK10.55476164
55LRRK20.55303184
56TAOK30.54384570
57MAPK150.52578258
58PTK20.52536217
59BMX0.51633727
60CSNK1E0.50314982
61MAPKAPK20.50077898
62PNCK0.48943912
63MAP3K70.48038140
64ERN10.46574354
65PAK30.46056006
66SGK30.45019195
67PAK20.45006652
68MAP3K10.44653145
69ITK0.43788553
70CSK0.42371762
71MAPK40.41861675
72MKNK10.39410477
73DDR20.38304073
74STK100.38007581
75INSR0.37256006
76EGFR0.36291613
77UHMK10.36111591
78PDK20.35826657
79PDK30.35752309
80PDK40.35752309
81SGK20.35343247
82SGK4940.35052251
83SGK2230.35052251
84FYN0.34770528
85PRKCE0.34355230
86IGF1R0.34114626
87ERBB20.33969743
88MTOR0.33165651
89CAMK40.31870340
90TTN0.31302124
91IRAK10.29441100
92TRIB30.29359583
93RPS6KA50.27167907
94PRKD10.26941798
95STK380.26933566
96PIK3CG0.26297944
97CAMK10.25951829
98TEC0.25739966
99EPHA40.25672851
100CDK50.24196894

Predicted pathways (KEGG)

RankGene SetZ-score
1Nitrogen metabolism_Homo sapiens_hsa009106.16922357
2African trypanosomiasis_Homo sapiens_hsa051434.64811933
3Tryptophan metabolism_Homo sapiens_hsa003802.73039711
4Salivary secretion_Homo sapiens_hsa049702.41672395
5Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049602.02157999
6Arginine biosynthesis_Homo sapiens_hsa002201.80470963
7Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.75060822
8Primary bile acid biosynthesis_Homo sapiens_hsa001201.57580049
9Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.45820922
10Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.36814022
11Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.32896103
12Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.31098964
13Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.17798111
14Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.13417581
15Estrogen signaling pathway_Homo sapiens_hsa049151.11437410
16Renin-angiotensin system_Homo sapiens_hsa046141.09610792
17Thyroid hormone synthesis_Homo sapiens_hsa049181.02916296
18Dorso-ventral axis formation_Homo sapiens_hsa043201.01454069
19Adherens junction_Homo sapiens_hsa045201.00845653
20Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.00592791
21ErbB signaling pathway_Homo sapiens_hsa040120.98433868
22Hippo signaling pathway_Homo sapiens_hsa043900.95311722
23Proteoglycans in cancer_Homo sapiens_hsa052050.94822662
24Histidine metabolism_Homo sapiens_hsa003400.93192214
25Long-term potentiation_Homo sapiens_hsa047200.92951546
26Folate biosynthesis_Homo sapiens_hsa007900.91751422
27Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.89639491
28Cocaine addiction_Homo sapiens_hsa050300.89102982
29Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.89075526
30Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.87512056
31Amphetamine addiction_Homo sapiens_hsa050310.86826159
32Leukocyte transendothelial migration_Homo sapiens_hsa046700.86376302
33Propanoate metabolism_Homo sapiens_hsa006400.83903536
34Maturity onset diabetes of the young_Homo sapiens_hsa049500.83446951
35Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.83216392
36Protein export_Homo sapiens_hsa030600.82889360
37Insulin resistance_Homo sapiens_hsa049310.82842469
38Tight junction_Homo sapiens_hsa045300.82420105
39Focal adhesion_Homo sapiens_hsa045100.80477787
40Complement and coagulation cascades_Homo sapiens_hsa046100.80406928
41Platelet activation_Homo sapiens_hsa046110.79728739
42Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.79608047
43Sulfur metabolism_Homo sapiens_hsa009200.79091162
44Renin secretion_Homo sapiens_hsa049240.76275839
45Bile secretion_Homo sapiens_hsa049760.75852301
46Fatty acid degradation_Homo sapiens_hsa000710.75180882
47Phenylalanine metabolism_Homo sapiens_hsa003600.74212278
48Gastric acid secretion_Homo sapiens_hsa049710.73228468
49Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.73118130
50Prion diseases_Homo sapiens_hsa050200.72273283
51Bladder cancer_Homo sapiens_hsa052190.71892931
52Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.71529693
53Amoebiasis_Homo sapiens_hsa051460.71493463
54Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.71210618
55Dilated cardiomyopathy_Homo sapiens_hsa054140.71038930
56Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.67961964
57beta-Alanine metabolism_Homo sapiens_hsa004100.66273821
58Gap junction_Homo sapiens_hsa045400.64839788
59Prolactin signaling pathway_Homo sapiens_hsa049170.64555392
60AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.61647610
61Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.61321480
62ECM-receptor interaction_Homo sapiens_hsa045120.60886022
63Rap1 signaling pathway_Homo sapiens_hsa040150.59782947
64Renal cell carcinoma_Homo sapiens_hsa052110.59702914
65Vibrio cholerae infection_Homo sapiens_hsa051100.57604923
66Pancreatic cancer_Homo sapiens_hsa052120.56057278
67Type II diabetes mellitus_Homo sapiens_hsa049300.55913725
68Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.55395473
69Aldosterone synthesis and secretion_Homo sapiens_hsa049250.54959239
70GABAergic synapse_Homo sapiens_hsa047270.54880826
71Toxoplasmosis_Homo sapiens_hsa051450.54669041
72Glutamatergic synapse_Homo sapiens_hsa047240.54341075
73Neurotrophin signaling pathway_Homo sapiens_hsa047220.54183345
74GnRH signaling pathway_Homo sapiens_hsa049120.53949814
75Pancreatic secretion_Homo sapiens_hsa049720.53263371
76Glucagon signaling pathway_Homo sapiens_hsa049220.53144226
77cAMP signaling pathway_Homo sapiens_hsa040240.51213827
78Cholinergic synapse_Homo sapiens_hsa047250.50642381
79Insulin secretion_Homo sapiens_hsa049110.50450875
80Butanoate metabolism_Homo sapiens_hsa006500.50193541
81Circadian entrainment_Homo sapiens_hsa047130.49921802
82Prostate cancer_Homo sapiens_hsa052150.49197067
83Lysine degradation_Homo sapiens_hsa003100.49191454
84Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.49177120
85Glioma_Homo sapiens_hsa052140.48784477
86cGMP-PKG signaling pathway_Homo sapiens_hsa040220.47888636
87Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.47478856
88Dopaminergic synapse_Homo sapiens_hsa047280.46532645
89MAPK signaling pathway_Homo sapiens_hsa040100.44836512
90Small cell lung cancer_Homo sapiens_hsa052220.44471852
91Axon guidance_Homo sapiens_hsa043600.43206602
92Osteoclast differentiation_Homo sapiens_hsa043800.43077673
93Endometrial cancer_Homo sapiens_hsa052130.42821986
94Oxytocin signaling pathway_Homo sapiens_hsa049210.42766022
95Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.42686219
96TGF-beta signaling pathway_Homo sapiens_hsa043500.42421928
97Ras signaling pathway_Homo sapiens_hsa040140.40075384
98Peroxisome_Homo sapiens_hsa041460.38386112
99Vascular smooth muscle contraction_Homo sapiens_hsa042700.38010344
100TNF signaling pathway_Homo sapiens_hsa046680.37339727

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