TMC8

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: Epidermodysplasia verruciformis (EV) is an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin. EV is caused by mutations in either of two adjacent genes located on chromosome 17q25.3. Both of these genes encode integral membrane proteins that localize to the endoplasmic reticulum and are predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 8 predicted transmembrane domains and 3 leucine zipper motifs. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1positive regulation of gamma-delta T cell activation (GO:0046645)7.45371176
2regulation of gamma-delta T cell differentiation (GO:0045586)6.21108002
3antigen processing and presentation of endogenous peptide antigen (GO:0002483)6.11364321
4antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)6.11364321
5negative T cell selection (GO:0043383)5.97083476
6positive thymic T cell selection (GO:0045059)5.96215724
7antigen processing and presentation of endogenous antigen (GO:0019883)5.84333444
8regulation of gamma-delta T cell activation (GO:0046643)5.76993304
9negative thymic T cell selection (GO:0045060)5.76621576
10positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)5.40699323
11positive T cell selection (GO:0043368)5.39099583
12negative regulation of cell killing (GO:0031342)5.31796729
13negative regulation of leukocyte mediated cytotoxicity (GO:0001911)5.31796729
14thymic T cell selection (GO:0045061)5.24065786
15T cell selection (GO:0045058)5.07408415
16response to interleukin-15 (GO:0070672)4.87098347
17positive regulation of interleukin-2 biosynthetic process (GO:0045086)4.86980257
18leukocyte aggregation (GO:0070486)4.74919042
19tolerance induction (GO:0002507)4.60250717
20T cell migration (GO:0072678)4.35637246
21regulation of B cell receptor signaling pathway (GO:0050855)4.32520164
22cellular response to interleukin-15 (GO:0071350)4.31954725
23interferon-gamma production (GO:0032609)4.31148570
24regulation of T cell tolerance induction (GO:0002664)4.16448904
25T cell receptor signaling pathway (GO:0050852)4.15470171
26regulation of isotype switching to IgG isotypes (GO:0048302)4.15096014
27detection of bacterium (GO:0016045)4.08842515
28T cell costimulation (GO:0031295)4.05659396
29lymphocyte costimulation (GO:0031294)4.00035632
30positive regulation by symbiont of host defense response (GO:0052509)3.99536809
31modulation by symbiont of host defense response (GO:0052031)3.99536809
32modulation by organism of immune response of other organism involved in symbiotic interaction (GO:003.99536809
33modulation by organism of defense response of other organism involved in symbiotic interaction (GO:03.99536809
34positive regulation by organism of defense response of other organism involved in symbiotic interact3.99536809
35modulation by symbiont of host immune response (GO:0052553)3.99536809
36detection of other organism (GO:0098543)3.98900620
37antigen receptor-mediated signaling pathway (GO:0050851)3.92390369
38response to muramyl dipeptide (GO:0032495)3.90567107
39regulation of interleukin-12 biosynthetic process (GO:0045075)3.87867054
40B cell receptor signaling pathway (GO:0050853)3.86596853
41regulation of alpha-beta T cell proliferation (GO:0046640)3.84851154
42regulation of B cell differentiation (GO:0045577)3.81182524
43regulation of interleukin-2 biosynthetic process (GO:0045076)3.73134470
44positive regulation of B cell differentiation (GO:0045579)3.71169153
45positive regulation of interleukin-2 production (GO:0032743)3.71108918
46regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)3.64142380
47negative regulation of leukocyte mediated immunity (GO:0002704)3.64123255
48regulation of regulatory T cell differentiation (GO:0045589)3.63318776
49activated T cell proliferation (GO:0050798)3.58563514
50regulation of antigen receptor-mediated signaling pathway (GO:0050854)3.55211152
51positive regulation of tolerance induction (GO:0002645)3.53561499
52neutrophil activation involved in immune response (GO:0002283)3.50839720
53immunoglobulin mediated immune response (GO:0016064)3.46741715
54negative regulation of erythrocyte differentiation (GO:0045647)3.46395272
55NIK/NF-kappaB signaling (GO:0038061)3.43262935
56T cell homeostasis (GO:0043029)3.43178760
57positive regulation of isotype switching (GO:0045830)3.39077774
58regulation of T cell receptor signaling pathway (GO:0050856)3.31513177
59macrophage activation involved in immune response (GO:0002281)3.24450121
60lymphocyte homeostasis (GO:0002260)3.22896142
61regulation of granulocyte differentiation (GO:0030852)3.20258246
62cellular response to type I interferon (GO:0071357)3.18686865
63type I interferon signaling pathway (GO:0060337)3.18686865
64leukocyte cell-cell adhesion (GO:0007159)3.16814160
65negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)3.15912180
66positive regulation of alpha-beta T cell proliferation (GO:0046641)3.15586424
67response to peptidoglycan (GO:0032494)3.15307380
68negative regulation of innate immune response (GO:0045824)3.15157462
69regulation of tolerance induction (GO:0002643)3.12885885
70JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)3.11786531
71B cell homeostasis (GO:0001782)3.11225611
72negative regulation of T cell mediated immunity (GO:0002710)3.11033253
73germinal center formation (GO:0002467)3.08969182
74regulation of type I interferon-mediated signaling pathway (GO:0060338)3.05604859
75positive regulation of granulocyte differentiation (GO:0030854)3.05471490
76regulation of dendritic cell antigen processing and presentation (GO:0002604)3.05234849
77defense response to protozoan (GO:0042832)3.04863342
78regulation of T cell mediated cytotoxicity (GO:0001914)3.04452285
79respiratory burst (GO:0045730)3.03894643
80regulation of interferon-beta biosynthetic process (GO:0045357)3.03651791
81erythrocyte maturation (GO:0043249)3.03612444
82regulation of isotype switching (GO:0045191)3.02964002
83natural killer cell differentiation (GO:0001779)3.02156133
84myeloid cell activation involved in immune response (GO:0002275)2.99823841
85detection of external biotic stimulus (GO:0098581)2.96260894
86regulation of interferon-gamma-mediated signaling pathway (GO:0060334)2.96175777
87regulation of response to interferon-gamma (GO:0060330)2.94942068
88neutrophil activation (GO:0042119)2.93892157
89positive regulation of histone deacetylation (GO:0031065)2.92590225
90antigen processing and presentation via MHC class Ib (GO:0002475)2.91736890
91leukocyte degranulation (GO:0043299)2.91690970
92negative regulation of adaptive immune response based on somatic recombination of immune receptors b2.91193269
93antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G2.91149582
94mast cell activation (GO:0045576)2.90902817
95regulation of alpha-beta T cell activation (GO:0046634)2.90856971
96positive regulation of DNA recombination (GO:0045911)2.90404708
97immune response-activating cell surface receptor signaling pathway (GO:0002429)2.90092966
98natural killer cell activation (GO:0030101)2.89580335
99interferon-gamma-mediated signaling pathway (GO:0060333)2.89550174
100negative regulation of T-helper cell differentiation (GO:0045623)2.88617426
101negative regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043371)2.88617426
102positive regulation of B cell mediated immunity (GO:0002714)2.87623882
103positive regulation of immunoglobulin mediated immune response (GO:0002891)2.87623882
104regulation of interleukin-2 production (GO:0032663)2.87314574
105negative regulation of interleukin-6 production (GO:0032715)2.86465265
106hepatocyte apoptotic process (GO:0097284)2.85671352
107regulation of natural killer cell mediated cytotoxicity (GO:0042269)2.84860233
108regulation of natural killer cell mediated immunity (GO:0002715)2.84860233
109positive regulation of T cell mediated cytotoxicity (GO:0001916)2.83388691
110positive regulation of type I interferon-mediated signaling pathway (GO:0060340)2.83214467
111positive regulation of humoral immune response (GO:0002922)2.82259287
112negative regulation of interleukin-12 production (GO:0032695)2.81750537
113negative regulation of phagocytosis (GO:0050765)2.80327729
114T cell differentiation (GO:0030217)2.80234357
115regulation of B cell mediated immunity (GO:0002712)2.78364232
116regulation of immunoglobulin mediated immune response (GO:0002889)2.76899148
117alpha-beta T cell activation (GO:0046631)2.75183938
118positive regulation of immunoglobulin production (GO:0002639)2.74449866
119megakaryocyte development (GO:0035855)2.74216983
120leukocyte homeostasis (GO:0001776)2.73598919
121CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)2.73411227
122Arp2/3 complex-mediated actin nucleation (GO:0034314)2.72077330
123regulation of antigen processing and presentation of peptide antigen (GO:0002583)2.72054554
124T cell proliferation (GO:0042098)2.71767812
125response to type I interferon (GO:0034340)2.71162766
126negative regulation of lymphocyte mediated immunity (GO:0002707)2.71095469
127V(D)J recombination (GO:0033151)2.71006923
128cellular extravasation (GO:0045123)2.68958544
129mucosal-associated lymphoid tissue development (GO:0048537)2.68411695
130Peyers patch development (GO:0048541)2.68411695
131myeloid dendritic cell activation (GO:0001773)2.68187826
132negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)2.67680918
133negative regulation of antigen receptor-mediated signaling pathway (GO:0050858)2.66324268
134positive regulation of T cell differentiation (GO:0045582)2.61606345
135modulation by virus of host process (GO:0019054)2.61406025
136response to protozoan (GO:0001562)2.60909797
137positive regulation of B cell activation (GO:0050871)2.60035705

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human4.94618540
2FOXP3_17237761_ChIP-ChIP_TREG_Mouse4.74380566
3STAT6_20620947_ChIP-Seq_CD4_POS_T_Human4.36474485
4* MYC_22102868_ChIP-Seq_BL_Human3.93243524
5IRF8_22096565_ChIP-ChIP_GC-B_Human3.57714328
6IRF8_22096565_ChIP-ChIP_GC-B_Mouse3.05176547
7VDR_21846776_ChIP-Seq_THP-1_Human3.00248453
8* MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.96917070
9FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse2.69054208
10* MAF_26560356_Chip-Seq_TH1_Human2.65779047
11MYB_26560356_Chip-Seq_TH2_Human2.65715105
12EGR1_19374776_ChIP-ChIP_THP-1_Human2.62320337
13RUNX_20019798_ChIP-Seq_JUKART_Human2.61054455
14SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.60359597
15STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.49457320
16UTX_26944678_Chip-Seq_JUKART_Human2.48874688
17FOXM1_23109430_ChIP-Seq_U2OS_Human2.48555654
18STAT4_19710469_ChIP-ChIP_TH1__Mouse2.48469037
19EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.39769026
20NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.38408287
21SCL_19346495_ChIP-Seq_HPC-7_Human2.37515821
22* MYB_26560356_Chip-Seq_TH1_Human2.36446272
23IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.28587436
24SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.26157734
25IRF8_21731497_ChIP-ChIP_J774_Mouse2.24249198
26TCF7_22412390_ChIP-Seq_EML_Mouse2.18737504
27RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.13698106
28E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human2.00884368
29* KDM2B_26808549_Chip-Seq_HPB-ALL_Human2.00582587
30MAF_26560356_Chip-Seq_TH2_Human1.95465048
31VDR_24763502_ChIP-Seq_THP-1_Human1.95318550
32RUNX1_22412390_ChIP-Seq_EML_Mouse1.94980635
33MYB_21317192_ChIP-Seq_ERMYB_Mouse1.93886813
34SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.93635287
35ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.90002882
36NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.86788185
37IRF8_27001747_Chip-Seq_BMDM_Mouse1.84520830
38BRD4_27068464_Chip-Seq_AML-cells_Mouse1.84511746
39* KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.82111438
40* SPI1_23547873_ChIP-Seq_NB4_Human1.81232784
41* KDM2B_26808549_Chip-Seq_DND41_Human1.79063555
42TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.73299116
43* TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.72562165
44NOTCH1_21737748_ChIP-Seq_TLL_Human1.66344287
45CIITA_25753668_ChIP-Seq_RAJI_Human1.65027021
46* FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.59741290
47E2F4_17652178_ChIP-ChIP_JURKAT_Human1.59267708
48* KDM2B_26808549_Chip-Seq_SUP-B15_Human1.54272647
49ELK3_25401928_ChIP-Seq_HUVEC_Human1.53504032
50GATA1_22025678_ChIP-Seq_K562_Human1.53057011
51GATA3_27048872_Chip-Seq_THYMUS_Human1.53017944
52ELF1_17652178_ChIP-ChIP_JURKAT_Human1.52347760
53SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.50579140
54GATA1_22383799_ChIP-Seq_G1ME_Mouse1.49326445
55NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.47448059
56GATA1_19941827_ChIP-Seq_MEL_Mouse1.47051727
57SPI1_23127762_ChIP-Seq_K562_Human1.46946212
58TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.45497373
59BP1_19119308_ChIP-ChIP_Hs578T_Human1.45004779
60GATA2_22383799_ChIP-Seq_G1ME_Mouse1.43250397
61SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.39900652
62* MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.36933603
63STAT6_21828071_ChIP-Seq_BEAS2B_Human1.36643636
64FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.33041200
65GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.31168483
66GATA1_19941826_ChIP-Seq_K562_Human1.28570114
67VDR_24787735_ChIP-Seq_THP-1_Human1.27167080
68VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.26410965
69RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.25039664
70LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.21954530
71NCOR1_26117541_ChIP-Seq_K562_Human1.19565798
72PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.17937750
73CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.12468092
74STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.10891688
75VDR_23849224_ChIP-Seq_CD4+_Human1.09527241
76PU_27001747_Chip-Seq_BMDM_Mouse1.08618266
77VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.07977685
78ERG_20887958_ChIP-Seq_HPC-7_Mouse1.07813999
79* BCOR_27268052_Chip-Seq_Bcells_Human1.07077849
80GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.05832059
81FOXP3_21729870_ChIP-Seq_TREG_Human1.05217991
82* KDM2B_26808549_Chip-Seq_JURKAT_Human1.04962949
83* CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.03230626
84PU.1_20513432_ChIP-Seq_Bcells_Mouse1.02729249
85* CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.02516632
86IKZF1_21737484_ChIP-ChIP_HCT116_Human1.02101554
87GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.99259548
88* CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.99209537
89GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.95696679
90* SA1_27219007_Chip-Seq_ERYTHROID_Human0.95117406
91KDM5A_27292631_Chip-Seq_BREAST_Human0.94668833
92GATA2_19941826_ChIP-Seq_K562_Human0.94093625
93* LXR_22292898_ChIP-Seq_THP-1_Human0.93209674
94HOXB4_20404135_ChIP-ChIP_EML_Mouse0.93019075
95SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.92750580
96* CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse0.92526602
97RUNX1_17652178_ChIP-ChIP_JURKAT_Human0.90959411
98Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.90652721
99* P68_20966046_ChIP-Seq_HELA_Human0.88452253
100XRN2_22483619_ChIP-Seq_HELA_Human0.86994109
101CTCF_27219007_Chip-Seq_ERYTHROID_Human0.86956301
102PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.86788923
103GATA3_26560356_Chip-Seq_TH2_Human0.86763954
104E2F1_21310950_ChIP-Seq_MCF-7_Human0.86323894
105LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.84281704
106KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.83113038
107CTCF_21964334_ChIP-Seq_BJAB-B_Human0.82609850
108* RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.81410929
109BCL6_27268052_Chip-Seq_Bcells_Human0.80429749
110NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.80349392
111* PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.80144901
112* SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.79806012
113MYC_18555785_ChIP-Seq_MESCs_Mouse0.78918642
114* ELF1_20517297_ChIP-Seq_JURKAT_Human0.78345010
115* FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.76702105
116* THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.75862644
117MYC_19079543_ChIP-ChIP_MESCs_Mouse0.75712441

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003763_abnormal_thymus_physiology4.18704007
2MP0000685_abnormal_immune_system3.59859191
3MP0005671_abnormal_response_to3.50063925
4MP0001835_abnormal_antigen_presentation3.41361043
5MP0001800_abnormal_humoral_immune3.28721153
6MP0001790_abnormal_immune_system3.19178773
7MP0005387_immune_system_phenotype3.19178773
8MP0002398_abnormal_bone_marrow2.84608188
9MP0005000_abnormal_immune_tolerance2.68004428
10MP0002420_abnormal_adaptive_immunity2.65465862
11MP0001873_stomach_inflammation2.64499900
12MP0002452_abnormal_antigen_presenting2.64223118
13MP0001819_abnormal_immune_cell2.61700274
14MP0002723_abnormal_immune_serum2.59458051
15MP0002396_abnormal_hematopoietic_system2.52062138
16MP0003303_peritoneal_inflammation2.47784201
17MP0009333_abnormal_splenocyte_physiolog2.47474274
18MP0002166_altered_tumor_susceptibility2.44661293
19MP0003436_decreased_susceptibility_to2.41367804
20MP0000703_abnormal_thymus_morphology2.39583631
21MP0002405_respiratory_system_inflammati2.37769052
22MP0000716_abnormal_immune_system2.37628429
23MP0002722_abnormal_immune_system2.35696611
24MP0000689_abnormal_spleen_morphology2.33829101
25MP0005025_abnormal_response_to2.27416079
26MP0003300_gastrointestinal_ulcer2.25582123
27MP0009785_altered_susceptibility_to2.19094557
28MP0010155_abnormal_intestine_physiology2.16180113
29MP0002429_abnormal_blood_cell2.07380152
30MP0003656_abnormal_erythrocyte_physiolo2.06989931
31MP0004947_skin_inflammation1.95497149
32MP0003866_abnormal_defecation1.91671403
33MP0005464_abnormal_platelet_physiology1.89651229
34MP0002006_tumorigenesis1.88559907
35MP0004808_abnormal_hematopoietic_stem1.87228538
36MP0002419_abnormal_innate_immunity1.86528479
37MP0006082_CNS_inflammation1.86381344
38MP0004510_myositis1.74728758
39MP0002148_abnormal_hypersensitivity_rea1.73322148
40MP0005397_hematopoietic_system_phenotyp1.71403335
41MP0001545_abnormal_hematopoietic_system1.71403335
42MP0003172_abnormal_lysosome_physiology1.71013918
43MP0001845_abnormal_inflammatory_respons1.68627006
44MP0009278_abnormal_bone_marrow1.53763364
45MP0000490_abnormal_crypts_of1.50663329
46MP0001853_heart_inflammation1.49081951
47MP0000465_gastrointestinal_hemorrhage1.48503519
48MP0002933_joint_inflammation1.45705809
49MP0005310_abnormal_salivary_gland1.44263634
50MP0002132_abnormal_respiratory_system1.41620980
51MP0003724_increased_susceptibility_to1.40031115
52MP0003191_abnormal_cellular_cholesterol1.35119603
53MP0008260_abnormal_autophagy1.33657097
54MP0003077_abnormal_cell_cycle1.27127790
55MP0010352_gastrointestinal_tract_polyps1.26806187
56MP0000858_altered_metastatic_potential1.25843268
57MP0008057_abnormal_DNA_replication1.20177261
58MP0003111_abnormal_nucleus_morphology1.19790299
59MP0002019_abnormal_tumor_incidence1.17827548
60MP0010094_abnormal_chromosome_stability1.16351849
61MP0003693_abnormal_embryo_hatching1.14482444
62MP0001986_abnormal_taste_sensitivity1.08227010
63MP0005076_abnormal_cell_differentiation1.05567611
64MP0008469_abnormal_protein_level1.05420593
65MP0005451_abnormal_body_composition1.01341110
66MP0003183_abnormal_peptide_metabolism1.01331777
67MP0002138_abnormal_hepatobiliary_system0.99484541
68MP0003448_altered_tumor_morphology0.97887930
69MP0005174_abnormal_tail_pigmentation0.93279660
70MP0001533_abnormal_skeleton_physiology0.91682056
71MP0005058_abnormal_lysosome_morphology0.91067455
72MP0005075_abnormal_melanosome_morpholog0.84876054
73MP0004883_abnormal_blood_vessel0.84048358
74MP0010307_abnormal_tumor_latency0.83600248
75MP0001663_abnormal_digestive_system0.81347280
76MP0002277_abnormal_respiratory_mucosa0.80750525
77MP0004957_abnormal_blastocyst_morpholog0.79908652
78MP0008961_abnormal_basal_metabolism0.78302739
79MP0005023_abnormal_wound_healing0.77629655
80MP0001851_eye_inflammation0.76195119
81MP0009764_decreased_sensitivity_to0.74327720
82MP0003828_pulmonary_edema0.72711765
83MP0000313_abnormal_cell_death0.72641366
84MP0000350_abnormal_cell_proliferation0.72182553
85MP0005166_decreased_susceptibility_to0.72161772
86MP0000609_abnormal_liver_physiology0.71401314
87MP0003453_abnormal_keratinocyte_physiol0.69920232
88MP0004130_abnormal_muscle_cell0.68627172
89MP0004381_abnormal_hair_follicle0.68535795
90MP0005390_skeleton_phenotype0.67209945
91MP0000477_abnormal_intestine_morphology0.67021705
92MP0009763_increased_sensitivity_to0.65529383
93MP0003566_abnormal_cell_adhesion0.64865942
94MP0004147_increased_porphyrin_level0.62449600
95MP0000249_abnormal_blood_vessel0.61329785
96MP0002009_preneoplasia0.60974824
97MP0006054_spinal_hemorrhage0.60865577
98MP0003690_abnormal_glial_cell0.60809915
99MP0003795_abnormal_bone_structure0.58625062
100MP0002095_abnormal_skin_pigmentation0.58325845
101MP0002693_abnormal_pancreas_physiology0.58228488
102MP0009931_abnormal_skin_appearance0.58202852
103MP0009765_abnormal_xenobiotic_induced0.57596705
104MP0002136_abnormal_kidney_physiology0.57383472
105MP0009840_abnormal_foam_cell0.56696073
106MP0008058_abnormal_DNA_repair0.55909298
107MP0000604_amyloidosis0.54796407
108MP0002254_reproductive_system_inflammat0.54657898
109MP0001348_abnormal_lacrimal_gland0.53539685
110MP0001730_embryonic_growth_arrest0.51482224
111MP0000598_abnormal_liver_morphology0.51268047
112MP0005381_digestive/alimentary_phenotyp0.50690939
113MP0002998_abnormal_bone_remodeling0.50057179
114MP0009115_abnormal_fat_cell0.50053985
115MP0002086_abnormal_extraembryonic_tissu0.50034108
116MP0005164_abnormal_response_to0.49953762
117MP0000015_abnormal_ear_pigmentation0.48840874
118MP0008007_abnormal_cellular_replicative0.48743221
119MP0005621_abnormal_cell_physiology0.48406286
120MP0003045_fibrosis0.47991403
121MP0004185_abnormal_adipocyte_glucose0.47939860
122MP0008004_abnormal_stomach_pH0.47273403
123MP0003075_altered_response_to0.46335732
124MP0002928_abnormal_bile_duct0.46290673
125MP0008874_decreased_physiological_sensi0.45942152
126MP0003091_abnormal_cell_migration0.45312725
127MP0005535_abnormal_body_temperature0.43726715

Predicted human phenotypes

RankGene SetZ-score
1T lymphocytopenia (HP:0005403)5.66396039
2Abnormality of T cell number (HP:0011839)5.41601484
3Panhypogammaglobulinemia (HP:0003139)5.13020513
4IgM deficiency (HP:0002850)5.11122723
5Recurrent viral infections (HP:0004429)4.79595533
6Recurrent bronchitis (HP:0002837)4.67166144
7Recurrent fungal infections (HP:0002841)4.64322702
8Abnormal delayed hypersensitivity skin test (HP:0002963)4.57328105
9Abnormality of T cells (HP:0002843)4.46403658
10Chronic otitis media (HP:0000389)4.27358391
11Abnormality of B cell number (HP:0010975)4.25796519
12B lymphocytopenia (HP:0010976)4.25796519
13Eczematoid dermatitis (HP:0000976)4.15672920
14Abnormality of the fingertips (HP:0001211)4.11437460
15Combined immunodeficiency (HP:0005387)4.11048829
16Severe combined immunodeficiency (HP:0004430)4.08631681
17Nasal polyposis (HP:0100582)3.99532139
18Chronic mucocutaneous candidiasis (HP:0002728)3.94225512
19Recurrent cutaneous fungal infections (HP:0011370)3.94225512
20Agammaglobulinemia (HP:0004432)3.93540445
21Orchitis (HP:0100796)3.82863753
22Elevated erythrocyte sedimentation rate (HP:0003565)3.72084008
23Inflammation of the large intestine (HP:0002037)3.71810851
24Gastrointestinal inflammation (HP:0004386)3.68568296
25Abnormality of the nasal mucosa (HP:0000433)3.46364555
26Meningitis (HP:0001287)3.39973875
27IgG deficiency (HP:0004315)3.37983256
28Recurrent abscess formation (HP:0002722)3.36015506
29Abnormality of T cell physiology (HP:0011840)3.35668301
30Lymphopenia (HP:0001888)3.30246853
31Thyroiditis (HP:0100646)3.29842973
32Colitis (HP:0002583)3.27930897
33Recurrent sinusitis (HP:0011108)3.24812721
34Autoimmune thrombocytopenia (HP:0001973)3.24269092
35Stomatitis (HP:0010280)3.19912299
36Abnormality of cells of the lymphoid lineage (HP:0012140)3.19078005
37Cellulitis (HP:0100658)3.13637621
38Eosinophilia (HP:0001880)3.07123300
39Prolonged bleeding time (HP:0003010)3.04727501
40Papilledema (HP:0001085)3.03544047
41Petechiae (HP:0000967)2.96818241
42Spontaneous hematomas (HP:0007420)2.95537596
43Myositis (HP:0100614)2.95109489
44Abnormality of eosinophils (HP:0001879)2.88323654
45Gastrointestinal stroma tumor (HP:0100723)2.87608881
46Increased IgM level (HP:0003496)2.85962792
47Vasculitis (HP:0002633)2.85359578
48* Pustule (HP:0200039)2.84205169
49* Papilloma (HP:0012740)2.83871053
50* Verrucae (HP:0200043)2.83871053
51Recurrent skin infections (HP:0001581)2.82723895
52Chronic diarrhea (HP:0002028)2.80875252
53Recurrent bacterial skin infections (HP:0005406)2.80544175
54IgA deficiency (HP:0002720)2.79960909
55Granulocytopenia (HP:0001913)2.78529113
56Poikilocytosis (HP:0004447)2.77142595
57Abnormality of the heme biosynthetic pathway (HP:0010472)2.75854593
58Increased IgE level (HP:0003212)2.74458415
59Mediastinal lymphadenopathy (HP:0100721)2.73656921
60Leukocytosis (HP:0001974)2.73327265
61Keratoconjunctivitis sicca (HP:0001097)2.71480162
62Lymphoma (HP:0002665)2.62847686
63Thrombocytosis (HP:0001894)2.58719779
64Keratoconjunctivitis (HP:0001096)2.56432977
65Epistaxis (HP:0000421)2.52591768
66Bronchitis (HP:0012387)2.52475479
67Emphysema (HP:0002097)2.52270896
68Chronic sinusitis (HP:0011109)2.52123053
69Encephalitis (HP:0002383)2.49148648
70Chronic obstructive pulmonary disease (HP:0006510)2.46653871
71Obstructive lung disease (HP:0006536)2.46653871
72Autoimmune hemolytic anemia (HP:0001890)2.45481629
73Hypergammaglobulinemia (HP:0010702)2.44371189
74Viral hepatitis (HP:0006562)2.38109894
75Hypoplasia of the thymus (HP:0000778)2.36820027
76Pulmonary embolism (HP:0002204)2.35802994
77Hypochromic anemia (HP:0001931)2.35530044
78Abnormal platelet volume (HP:0011876)2.35331701
79Hypochromic microcytic anemia (HP:0004840)2.32264060
80Joint swelling (HP:0001386)2.28895937
81Slow saccadic eye movements (HP:0000514)2.25014054
82Recurrent otitis media (HP:0000403)2.24671195
83Reticulocytosis (HP:0001923)2.17410156
84Acanthocytosis (HP:0001927)2.15915264
85Abnormal number of erythroid precursors (HP:0012131)2.13207579
86Abnormality of the pleura (HP:0002103)2.13065861
87Episodic fever (HP:0001954)2.11121138
88Chest pain (HP:0100749)2.10727558
89Abnormal platelet function (HP:0011869)2.09657510
90Impaired platelet aggregation (HP:0003540)2.09657510
91Abnormality of cells of the erythroid lineage (HP:0012130)2.09390286
92Microcytic anemia (HP:0001935)2.08735301
93Anorexia (HP:0002039)2.07524572
94Increased density of long bones (HP:0006392)2.06432155
95Abnormality of the prostate (HP:0008775)2.04975567
96Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.03748737
97Gastrointestinal infarctions (HP:0005244)2.02296003
98Gingival bleeding (HP:0000225)2.00089615
99Pulmonary infiltrates (HP:0002113)1.99423051
100Hemoptysis (HP:0002105)1.98721844
101Sepsis (HP:0100806)1.96522873
102Abnormality of reticulocytes (HP:0004312)1.96146899
103Restrictive lung disease (HP:0002091)1.94712405
104Aplasia/Hypoplasia of the thymus (HP:0010515)1.93217181
105* Skin ulcer (HP:0200042)1.93086182
106Periodontitis (HP:0000704)1.92815905
107Abnormality of macrophages (HP:0004311)1.91543101
108Skin rash (HP:0000988)1.91291308
109Premature loss of primary teeth (HP:0006323)1.90431799
110Recurrent gram-negative bacterial infections (HP:0005420)1.89337909
111Poikiloderma (HP:0001029)1.89321035
112Acute hepatic failure (HP:0006554)1.89185213
113Stomach cancer (HP:0012126)1.89104414
114Arterial thrombosis (HP:0004420)1.88830695
115Osteomyelitis (HP:0002754)1.87835752
116Gingivitis (HP:0000230)1.87502395
117Gangrene (HP:0100758)1.86440590
118Glomerulopathy (HP:0100820)1.86241177
119Optic neuritis (HP:0100653)1.85529960
120Retrobulbar optic neuritis (HP:0100654)1.85529960
121Interstitial pulmonary disease (HP:0006530)1.85193456
122Urticaria (HP:0001025)1.84202291

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP4K15.99702313
2PRPF4B3.50819261
3TXK3.45264444
4STK102.87010676
5JAK32.81605384
6GRK62.81024503
7ZAP702.76940676
8MAP3K102.71716813
9EEF2K2.48519348
10TYK22.43778312
11ITK2.26852686
12BLK2.24121555
13FGFR42.14109261
14CDK121.97100082
15SYK1.89591585
16MAP3K141.85450744
17IKBKE1.85202550
18BTK1.85037049
19JAK11.62605818
20LCK1.59626368
21CSK1.54062663
22KDR1.53115808
23PASK1.45968878
24PKN21.41502220
25LRRK21.39580038
26HCK1.39498729
27TBK11.39400073
28FGFR31.37579510
29TEC1.37102489
30SIK21.36398930
31MARK31.34584647
32PIM11.33151035
33NLK1.30055974
34TRIB31.28211554
35NME21.25236142
36IRAK41.24456355
37MAP3K131.21894927
38ERN11.21052410
39SMG11.16003356
40IKBKB1.14497351
41CSF1R1.13448624
42MAP3K71.12517718
43STK41.12508498
44NEK21.11914873
45CLK11.10545911
46CAMKK11.08192011
47TGFBR21.04986212
48EPHB11.03985052
49JAK20.99361606
50LYN0.97035732
51CAMKK20.95870991
52CHUK0.94815258
53MAP2K30.94422242
54TNK20.94412294
55PRKCQ0.92735427
56KIT0.92216946
57MST40.91082605
58CDK40.90096294
59FES0.86647378
60MAP3K30.84612474
61FGR0.83673453
62PRKCH0.83012669
63TESK20.82209763
64BRD40.82025096
65RPS6KA40.81711163
66MAP3K10.81635746
67CDC42BPA0.77246122
68IRAK30.71618153
69BMPR20.70153502
70PTK60.69363612
71MAP2K20.67295475
72TAOK10.66319657
73MAP3K80.65130144
74TTN0.65121973
75ALK0.62959689
76CDC70.60506854
77MAPK110.59421376
78HIPK20.56648738
79MELK0.56280900
80IRAK10.54506489
81MAP3K110.54064588
82YES10.53874236
83FYN0.53352540
84EIF2AK10.53033446
85FLT30.52150750
86CDK90.50431014
87CDK60.48947935
88TAOK20.47837054
89SIK10.47481389
90RPS6KB20.46162433
91MAPK120.45777034
92PDK10.45431545
93PRKD20.44872929
94RET0.43366752
95PDGFRB0.43307615
96RPS6KA60.42726169
97TRPM70.42231772
98PDPK10.42102623
99SIK30.41821246
100STK110.41788351
101DYRK1B0.41276961
102CDK190.41055868
103KSR20.40310269
104TGFBR10.38090212
105CAMK1D0.37891783
106MARK20.37471202
107RPS6KL10.36761573
108RPS6KC10.36761573
109MAPK40.36618326
110MAPKAPK20.36392284
111TAOK30.36201911
112EPHA30.35282507
113MATK0.34330285
114PIK3CG0.34127274
115MAPK70.33071345
116CHEK10.32052241
117RIPK40.32002199
118TYRO30.31743172
119ICK0.31464289
120CAMK1G0.30889432
121RPS6KA50.30773404
122MAP2K60.30537661
123STK380.29593438
124MAPK30.29426334
125PTK2B0.28988330
126TLK10.28282523
127INSR0.28205172
128EGFR0.27823219

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary immunodeficiency_Homo sapiens_hsa053405.60650172
2T cell receptor signaling pathway_Homo sapiens_hsa046603.13554087
3Intestinal immune network for IgA production_Homo sapiens_hsa046722.66948368
4NF-kappa B signaling pathway_Homo sapiens_hsa040642.64423173
5B cell receptor signaling pathway_Homo sapiens_hsa046622.61419276
6Measles_Homo sapiens_hsa051622.48987151
7Hematopoietic cell lineage_Homo sapiens_hsa046402.45144625
8Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.40156375
9Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046502.38880375
10Antigen processing and presentation_Homo sapiens_hsa046122.38316814
11Leishmaniasis_Homo sapiens_hsa051402.14187452
12Type I diabetes mellitus_Homo sapiens_hsa049402.11262525
13Osteoclast differentiation_Homo sapiens_hsa043802.06752319
14Herpes simplex infection_Homo sapiens_hsa051681.76729894
15Jak-STAT signaling pathway_Homo sapiens_hsa046301.64770230
16Acute myeloid leukemia_Homo sapiens_hsa052211.64326466
17Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.64150238
18RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.52609065
19Graft-versus-host disease_Homo sapiens_hsa053321.49885869
20Allograft rejection_Homo sapiens_hsa053301.47608445
21Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.46371752
22Chronic myeloid leukemia_Homo sapiens_hsa052201.43048339
23Hepatitis B_Homo sapiens_hsa051611.42084117
24Leukocyte transendothelial migration_Homo sapiens_hsa046701.41496151
25Viral myocarditis_Homo sapiens_hsa054161.33543942
26Chemokine signaling pathway_Homo sapiens_hsa040621.33346840
27Toxoplasmosis_Homo sapiens_hsa051451.32666167
28Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.29209569
29Influenza A_Homo sapiens_hsa051641.25200860
30NOD-like receptor signaling pathway_Homo sapiens_hsa046211.21349644
31Apoptosis_Homo sapiens_hsa042101.20714985
32Pancreatic cancer_Homo sapiens_hsa052121.20247407
33DNA replication_Homo sapiens_hsa030301.19688570
34Ribosome_Homo sapiens_hsa030101.17100825
35Shigellosis_Homo sapiens_hsa051311.16158834
36Toll-like receptor signaling pathway_Homo sapiens_hsa046201.16018378
37HTLV-I infection_Homo sapiens_hsa051661.14528777
38Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.13242433
39Viral carcinogenesis_Homo sapiens_hsa052031.12473626
40Staphylococcus aureus infection_Homo sapiens_hsa051501.10944154
41Epstein-Barr virus infection_Homo sapiens_hsa051691.08903957
42Non-homologous end-joining_Homo sapiens_hsa034501.06338945
43Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.06125718
44Non-small cell lung cancer_Homo sapiens_hsa052231.05484954
45Platelet activation_Homo sapiens_hsa046111.02196694
46Base excision repair_Homo sapiens_hsa034101.02027751
47Transcriptional misregulation in cancer_Homo sapiens_hsa052020.99186576
48Spliceosome_Homo sapiens_hsa030400.99163555
49Tuberculosis_Homo sapiens_hsa051520.94416683
50Malaria_Homo sapiens_hsa051440.93661707
51Autoimmune thyroid disease_Homo sapiens_hsa053200.93345791
52TNF signaling pathway_Homo sapiens_hsa046680.92839325
53p53 signaling pathway_Homo sapiens_hsa041150.89794871
54Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.88977593
55Legionellosis_Homo sapiens_hsa051340.87709286
56Hepatitis C_Homo sapiens_hsa051600.87249674
57Rheumatoid arthritis_Homo sapiens_hsa053230.87240292
58Small cell lung cancer_Homo sapiens_hsa052220.85173876
59Mismatch repair_Homo sapiens_hsa034300.82553375
60AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.81940403
61Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.80391589
62African trypanosomiasis_Homo sapiens_hsa051430.79493575
63Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.78852138
64Notch signaling pathway_Homo sapiens_hsa043300.78696835
65VEGF signaling pathway_Homo sapiens_hsa043700.77086633
66Choline metabolism in cancer_Homo sapiens_hsa052310.76861821
67Asthma_Homo sapiens_hsa053100.75232868
68Prolactin signaling pathway_Homo sapiens_hsa049170.73871082
69Pertussis_Homo sapiens_hsa051330.72628514
70Colorectal cancer_Homo sapiens_hsa052100.71804750
71Carbohydrate digestion and absorption_Homo sapiens_hsa049730.71744638
72Phospholipase D signaling pathway_Homo sapiens_hsa040720.70735999
73Systemic lupus erythematosus_Homo sapiens_hsa053220.70676315
74Neurotrophin signaling pathway_Homo sapiens_hsa047220.69099249
75Cell cycle_Homo sapiens_hsa041100.66964708
76Lysine degradation_Homo sapiens_hsa003100.66930365
77Phagosome_Homo sapiens_hsa041450.65044434
78mRNA surveillance pathway_Homo sapiens_hsa030150.64577994
79Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.62811700
80FoxO signaling pathway_Homo sapiens_hsa040680.62010727
81Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.60762322
82Glycerophospholipid metabolism_Homo sapiens_hsa005640.59970324
83Salmonella infection_Homo sapiens_hsa051320.58943021
84Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.57932409
85Sphingolipid signaling pathway_Homo sapiens_hsa040710.57677598
86Insulin resistance_Homo sapiens_hsa049310.54479310
87Phosphatidylinositol signaling system_Homo sapiens_hsa040700.53304297
88SNARE interactions in vesicular transport_Homo sapiens_hsa041300.53096630
89GnRH signaling pathway_Homo sapiens_hsa049120.52610977
90Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.51749458
91Other glycan degradation_Homo sapiens_hsa005110.50801016
92mTOR signaling pathway_Homo sapiens_hsa041500.49760308
93Prostate cancer_Homo sapiens_hsa052150.48452882
94MicroRNAs in cancer_Homo sapiens_hsa052060.47950523
95Homologous recombination_Homo sapiens_hsa034400.47631264
96Thyroid cancer_Homo sapiens_hsa052160.46907731
97RNA degradation_Homo sapiens_hsa030180.46749243
98Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.46617703
99ABC transporters_Homo sapiens_hsa020100.45321283
100One carbon pool by folate_Homo sapiens_hsa006700.43394425
101Dorso-ventral axis formation_Homo sapiens_hsa043200.42796612
102Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.41277313
103Adipocytokine signaling pathway_Homo sapiens_hsa049200.40906417
104RNA transport_Homo sapiens_hsa030130.40681043
105Inositol phosphate metabolism_Homo sapiens_hsa005620.40588223
106Regulation of actin cytoskeleton_Homo sapiens_hsa048100.39152524
107Caffeine metabolism_Homo sapiens_hsa002320.38793301
108Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.37460641
109ErbB signaling pathway_Homo sapiens_hsa040120.37374038
110Endocytosis_Homo sapiens_hsa041440.36472967
111Regulation of autophagy_Homo sapiens_hsa041400.36459704
112HIF-1 signaling pathway_Homo sapiens_hsa040660.36240152
113Nucleotide excision repair_Homo sapiens_hsa034200.36201140
114Type II diabetes mellitus_Homo sapiens_hsa049300.36094379
115Endometrial cancer_Homo sapiens_hsa052130.34915641
116MAPK signaling pathway_Homo sapiens_hsa040100.34822695
117Fanconi anemia pathway_Homo sapiens_hsa034600.34049255
118Renal cell carcinoma_Homo sapiens_hsa052110.32890889
119Ras signaling pathway_Homo sapiens_hsa040140.32826303
120Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.32448832
121Lysosome_Homo sapiens_hsa041420.32310227
122Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.32300395
123Glycosaminoglycan degradation_Homo sapiens_hsa005310.31380535
124Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.30707960
125Long-term potentiation_Homo sapiens_hsa047200.30014485
126Longevity regulating pathway - mammal_Homo sapiens_hsa042110.29534409
127Rap1 signaling pathway_Homo sapiens_hsa040150.27749057

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