PAX5

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 paired box (PAX) family of transcription factors. The central feature of this gene family is a novel, highly conserved DNA-binding motif, known as the paired box. Paired box transcription factors are important regulators in early development, and alterations in the expression of their genes are thought to contribute to neoplastic transformation. This gene encodes the B-cell lineage specific activator protein that is expressed at early, but not late stages of B-cell differentiation. Its expression has also been detected in developing CNS and testis and so the encoded protein may also play a role in neural development and spermatogenesis. This gene is located at 9p13, which is involved in t(9;14)(p13;q32) translocations recurring in small lymphocytic lymphomas of the plasmacytoid subtype, and in derived large-cell lymphomas. This translocation brings the potent E-mu enhancer of the IgH gene into close proximity of the PAX5 promoter, suggesting that the deregulation of transcription of this gene contributes to the pathogenesis of these lymphomas. Alternative splicing results in multiple transcript variants encoding different isoforms. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1B cell receptor signaling pathway (GO:0050853)9.18967173
2positive regulation of gamma-delta T cell activation (GO:0046645)7.14596773
3positive regulation of B cell differentiation (GO:0045579)6.60655494
4CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)6.50718688
5regulation of B cell differentiation (GO:0045577)6.15660603
6antigen processing and presentation of endogenous antigen (GO:0019883)6.00924473
7regulation of gamma-delta T cell differentiation (GO:0045586)5.48388208
8regulation of antigen processing and presentation of peptide antigen (GO:0002583)5.45042472
9B cell proliferation (GO:0042100)5.29504611
10T cell lineage commitment (GO:0002360)5.27346054
11regulation of B cell receptor signaling pathway (GO:0050855)5.11752667
12regulation of gamma-delta T cell activation (GO:0046643)4.97831794
13cellular response to zinc ion (GO:0071294)4.74176027
14antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)4.53197818
15antigen processing and presentation of endogenous peptide antigen (GO:0002483)4.53197818
16serine transport (GO:0032329)4.45809326
17positive thymic T cell selection (GO:0045059)4.35207827
18negative regulation of B cell proliferation (GO:0030889)4.27521421
19germinal center formation (GO:0002467)4.22696651
20natural killer cell differentiation (GO:0001779)4.21566992
21mature B cell differentiation (GO:0002335)4.19224042
22L-serine transport (GO:0015825)4.13677429
23V(D)J recombination (GO:0033151)4.13665268
24regulation of B cell proliferation (GO:0030888)4.11137579
25negative regulation of phagocytosis (GO:0050765)4.09808975
26regulation of superoxide anion generation (GO:0032928)4.04838331
27antigen receptor-mediated signaling pathway (GO:0050851)4.04393420
28regulation of germinal center formation (GO:0002634)4.00906974
29positive regulation of histone deacetylation (GO:0031065)4.00652891
30regulation of antigen processing and presentation (GO:0002577)3.96072629
31interferon-gamma-mediated signaling pathway (GO:0060333)3.91441190
32positive regulation of interleukin-2 biosynthetic process (GO:0045086)3.89966697
33T cell homeostasis (GO:0043029)3.85381730
34regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:19022353.84099613
35negative T cell selection (GO:0043383)3.82557795
36modulation by organism of defense response of other organism involved in symbiotic interaction (GO:03.81878240
37positive regulation by organism of defense response of other organism involved in symbiotic interact3.81878240
38modulation by symbiont of host immune response (GO:0052553)3.81878240
39positive regulation by symbiont of host defense response (GO:0052509)3.81878240
40modulation by symbiont of host defense response (GO:0052031)3.81878240
41modulation by organism of immune response of other organism involved in symbiotic interaction (GO:003.81878240
42regulation of interferon-beta biosynthetic process (GO:0045357)3.81733527
43lymphocyte homeostasis (GO:0002260)3.80722844
44NIK/NF-kappaB signaling (GO:0038061)3.79894925
45positive regulation of Rap GTPase activity (GO:0032854)3.79510836
46regulation of B cell apoptotic process (GO:0002902)3.78871109
47B cell activation (GO:0042113)3.78201061
48positive regulation of interferon-alpha production (GO:0032727)3.76335209
49B cell homeostasis (GO:0001782)3.76254588
50negative regulation of bone resorption (GO:0045779)3.74810372
51B cell mediated immunity (GO:0019724)3.71411961
52Peyers patch development (GO:0048541)3.69220092
53mucosal-associated lymphoid tissue development (GO:0048537)3.69220092
54positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.68058138
55response to type I interferon (GO:0034340)3.67715389
56tachykinin receptor signaling pathway (GO:0007217)3.65841923
57T cell migration (GO:0072678)3.63396655
58type I interferon signaling pathway (GO:0060337)3.63329956
59cellular response to type I interferon (GO:0071357)3.63329956
60positive regulation of granulocyte differentiation (GO:0030854)3.60901630
61positive regulation by host of viral transcription (GO:0043923)3.57462487
62regulation of interferon-gamma biosynthetic process (GO:0045072)3.52390248
63B cell differentiation (GO:0030183)3.51152205
64regulation of interferon-alpha production (GO:0032647)3.48932121
65immune response-activating cell surface receptor signaling pathway (GO:0002429)3.45731641
66positive regulation of gene expression, epigenetic (GO:0045815)3.44547427
67vesicle targeting (GO:0006903)3.41602937
68lymphocyte costimulation (GO:0031294)3.40939390
69positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)3.40552573
70regulation of interleukin-12 biosynthetic process (GO:0045075)3.39020801
71positive regulation of type I interferon-mediated signaling pathway (GO:0060340)3.38006631
72positive regulation of B cell activation (GO:0050871)3.32338877
73lymph node development (GO:0048535)3.32001491
74positive regulation of interferon-gamma biosynthetic process (GO:0045078)3.28637117
75regulation of T-helper 1 cell differentiation (GO:0045625)3.28501759
76leukocyte homeostasis (GO:0001776)3.28177675
77positive regulation of humoral immune response (GO:0002922)3.27544956
78regulation of alpha-beta T cell proliferation (GO:0046640)3.26807861
79positive regulation of B cell proliferation (GO:0030890)3.26655400
80defense response to protozoan (GO:0042832)3.25627382
81T cell selection (GO:0045058)3.24758058
82positive regulation of protein homooligomerization (GO:0032464)3.24149234
83mononuclear cell proliferation (GO:0032943)3.22855239
84response to interleukin-15 (GO:0070672)3.19950713
85lymphocyte proliferation (GO:0046651)3.17979552
86regulation of antigen receptor-mediated signaling pathway (GO:0050854)3.17770059
87regulation of dendritic cell antigen processing and presentation (GO:0002604)3.17682850
88protein-DNA complex disassembly (GO:0032986)3.17053135
89nucleosome disassembly (GO:0006337)3.17053135
90regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)3.11691705
91regulation of Rap GTPase activity (GO:0032317)3.11227174
92regulation of B cell activation (GO:0050864)3.09151917
93negative regulation of T-helper cell differentiation (GO:0045623)3.08625679
94negative regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043371)3.08625679
95positive regulation of immunoglobulin production (GO:0002639)3.08029209
96tolerance induction (GO:0002507)3.06367277
97positive regulation of protein deacetylation (GO:0090312)3.04623646
98cellular response to interleukin-15 (GO:0071350)3.04217026
99detection of bacterium (GO:0016045)3.03506841
100mature B cell differentiation involved in immune response (GO:0002313)3.03351743
101thymic T cell selection (GO:0045061)3.01711576
102negative regulation of alpha-beta T cell activation (GO:0046636)3.01173396
103hepatocyte apoptotic process (GO:0097284)3.00387647
104regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)3.00169380
105negative regulation of calcium ion transport into cytosol (GO:0010523)2.99958041
106regulation of granulocyte differentiation (GO:0030852)2.99174967
107immune response-regulating cell surface receptor signaling pathway involved in phagocytosis (GO:00022.98392250
108Fc-gamma receptor signaling pathway (GO:0038094)2.98392250
109Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)2.98392250
110neutrophil activation (GO:0042119)2.98157446
111positive T cell selection (GO:0043368)2.96588150
112cytidine metabolic process (GO:0046087)2.95546981
113cytidine catabolic process (GO:0006216)2.95546981
114cytidine deamination (GO:0009972)2.95546981
115negative regulation of bone remodeling (GO:0046851)2.95507434
116determination of adult lifespan (GO:0008340)2.94231660
117negative regulation of B cell apoptotic process (GO:0002903)2.93395678
118positive regulation of antigen processing and presentation (GO:0002579)2.92676617
119Fc receptor mediated stimulatory signaling pathway (GO:0002431)2.92641709
120cellular hyperosmotic response (GO:0071474)2.92371644
121adaptation of signaling pathway (GO:0023058)2.91644985
122regulation of platelet aggregation (GO:0090330)2.90802806
123alternative mRNA splicing, via spliceosome (GO:0000380)2.90676785
124activation of JUN kinase activity (GO:0007257)2.90324233
125immunoglobulin mediated immune response (GO:0016064)2.90164562
126cellular response to exogenous dsRNA (GO:0071360)2.89860047
127positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)2.89807301
128positive regulation of cell adhesion mediated by integrin (GO:0033630)2.89552720
129negative regulation of antigen receptor-mediated signaling pathway (GO:0050858)2.89346302
130negative regulation of cell killing (GO:0031342)2.88901639
131negative regulation of leukocyte mediated cytotoxicity (GO:0001911)2.88901639
132pyrimidine ribonucleoside catabolic process (GO:0046133)2.88891167
133antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G2.88592905
134mitotic sister chromatid cohesion (GO:0007064)2.88363147
135macrophage activation involved in immune response (GO:0002281)2.87871860
136production of molecular mediator involved in inflammatory response (GO:0002532)2.86257177
137leukocyte proliferation (GO:0070661)2.86063595
138cytoplasmic mRNA processing body assembly (GO:0033962)2.85454032
139cellular response to interferon-gamma (GO:0071346)2.83745455
140negative thymic T cell selection (GO:0045060)2.78831307
141negative regulation of RNA splicing (GO:0033119)2.76651701
142positive regulation of interleukin-2 production (GO:0032743)2.76620158
143response to protozoan (GO:0001562)2.76310673
144lymph vessel development (GO:0001945)2.75759852
145T cell costimulation (GO:0031295)2.70938144
146histone H3-K36 demethylation (GO:0070544)2.70440179

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human6.44687024
2* MYC_22102868_ChIP-Seq_BL_Human5.50987903
3IRF8_22096565_ChIP-ChIP_GC-B_Human5.41691839
4VDR_21846776_ChIP-Seq_THP-1_Human3.86229783
5IRF8_22096565_ChIP-ChIP_GC-B_Mouse3.84193672
6SPI1_22096565_ChIP-ChIP_GC-B_Mouse3.82686962
7FOXM1_23109430_ChIP-Seq_U2OS_Human3.76449022
8FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.59407401
9STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.15312387
10EGR1_19374776_ChIP-ChIP_THP-1_Human2.93579388
11* E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human2.93527962
12MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.86957808
13FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.84393343
14IRF8_21731497_ChIP-ChIP_J774_Mouse2.77773345
15CIITA_25753668_ChIP-Seq_RAJI_Human2.54792032
16UTX_26944678_Chip-Seq_JUKART_Human2.51785017
17FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse2.51218643
18RUNX_20019798_ChIP-Seq_JUKART_Human2.51151770
19NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.49173133
20MAF_26560356_Chip-Seq_TH1_Human2.48618455
21MYB_26560356_Chip-Seq_TH1_Human2.46490646
22MYB_26560356_Chip-Seq_TH2_Human2.45226013
23VDR_24763502_ChIP-Seq_THP-1_Human2.37168882
24TCF7_22412390_ChIP-Seq_EML_Mouse2.34040939
25IRF8_27001747_Chip-Seq_BMDM_Mouse2.33216421
26KDM2B_26808549_Chip-Seq_HPB-ALL_Human2.31414429
27SCL_19346495_ChIP-Seq_HPC-7_Human2.20683419
28KDM2B_26808549_Chip-Seq_DND41_Human2.08435314
29* KDM2B_26808549_Chip-Seq_SUP-B15_Human2.04835369
30ASXL1_24218140_ChIP-Seq_BMDM_Mouse2.01116337
31SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.98593894
32VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.90158028
33* E2F4_17652178_ChIP-ChIP_JURKAT_Human1.88605666
34SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.85297230
35SPI1_23547873_ChIP-Seq_NB4_Human1.77632648
36NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.77349771
37STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.73409353
38BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.67944610
39TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.66981115
40SPI1_23127762_ChIP-Seq_K562_Human1.62980550
41MAF_26560356_Chip-Seq_TH2_Human1.61993068
42NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.60753418
43KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.60123128
44BRD4_27068464_Chip-Seq_AML-cells_Mouse1.60063781
45RUNX1_22412390_ChIP-Seq_EML_Mouse1.59303630
46FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.53223043
47STAT4_19710469_ChIP-ChIP_TH1__Mouse1.43680726
48TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.42615199
49MYB_21317192_ChIP-Seq_ERMYB_Mouse1.40343352
50RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.39914383
51* ELK3_25401928_ChIP-Seq_HUVEC_Human1.39479924
52TP63_19390658_ChIP-ChIP_HaCaT_Human1.38030678
53GATA3_27048872_Chip-Seq_THYMUS_Human1.37826440
54NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.36856159
55EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.31694294
56GATA2_22383799_ChIP-Seq_G1ME_Mouse1.30787275
57SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.30722214
58FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.26728296
59IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.26140710
60E2F1_21310950_ChIP-Seq_MCF-7_Human1.24228889
61SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.24184836
62TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.23174041
63KDM2B_26808549_Chip-Seq_JURKAT_Human1.15911601
64GATA1_22383799_ChIP-Seq_G1ME_Mouse1.15686533
65KDM5A_27292631_Chip-Seq_BREAST_Human1.14046890
66* PU.1_20513432_ChIP-Seq_Bcells_Mouse1.13541880
67FOXP3_21729870_ChIP-Seq_TREG_Human1.11414152
68GATA1_22025678_ChIP-Seq_K562_Human1.11371934
69BP1_19119308_ChIP-ChIP_Hs578T_Human1.06816361
70VDR_24787735_ChIP-Seq_THP-1_Human1.06031441
71IKZF1_21737484_ChIP-ChIP_HCT116_Human1.03233205
72GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.02960303
73NCOR1_26117541_ChIP-Seq_K562_Human1.02705209
74VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.00587878
75HOXB4_20404135_ChIP-ChIP_EML_Mouse0.98124996
76ERG_20887958_ChIP-Seq_HPC-7_Mouse0.96809490
77MEIS1_20887958_ChIP-Seq_HPC-7_Mouse0.96709456
78PU_27001747_Chip-Seq_BMDM_Mouse0.96452441
79NOTCH1_21737748_ChIP-Seq_TLL_Human0.96275805
80MYCN_21190229_ChIP-Seq_SHEP-21N_Human0.96208526
81PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.95457777
82CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.92894704
83ELF1_17652178_ChIP-ChIP_JURKAT_Human0.91914886
84* BCL6_27268052_Chip-Seq_Bcells_Human0.91805042
85GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.91717141
86MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse0.91185615
87* SOX11_23321250_ChIP-ChIP_Z138-A519-JVM2_Human0.90920567
88* BCOR_27268052_Chip-Seq_Bcells_Human0.88209740
89ELF1_20517297_ChIP-Seq_JURKAT_Human0.86774026
90VDR_23849224_ChIP-Seq_CD4+_Human0.86590238
91FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.86543034
92RUNX1_17652178_ChIP-ChIP_JURKAT_Human0.84684156
93LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.84621891
94SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.82350236
95KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.81898022
96* GATA3_26560356_Chip-Seq_TH1_Human0.81256387
97RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.81068260
98GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.80613956
99SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.80171031
100PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.79801997
101* GATA1_19941827_ChIP-Seq_MEL_Mouse0.78791536
102RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.78671345
103CTCF_21964334_ChIP-Seq_BJAB-B_Human0.76848669
104XRN2_22483619_ChIP-Seq_HELA_Human0.76196173
105ELK4_26923725_Chip-Seq_MESODERM_Mouse0.76048076
106EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.75956992
107FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.75861200
108CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.75373285
109GATA3_26560356_Chip-Seq_TH2_Human0.75178055
110* P300_27268052_Chip-Seq_Bcells_Human0.74644110
111MYC_19079543_ChIP-ChIP_MESCs_Mouse0.73084522
112* LXR_22292898_ChIP-Seq_THP-1_Human0.70981842
113STAT6_21828071_ChIP-Seq_BEAS2B_Human0.70584171
114ZFP281_27345836_Chip-Seq_ESCs_Mouse0.69899092
115DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.69827366
116ETS1_22383799_ChIP-Seq_G1ME_Mouse0.69419953
117* SMRT_27268052_Chip-Seq_Bcells_Human0.68543848
118CTCF_27219007_Chip-Seq_ERYTHROID_Human0.67887650

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1* MP0001800_abnormal_humoral_immune4.90994567
2MP0001835_abnormal_antigen_presentation4.75332307
3MP0005387_immune_system_phenotype4.67460904
4MP0001790_abnormal_immune_system4.67460904
5MP0000685_abnormal_immune_system3.85291776
6* MP0002452_abnormal_antigen_presenting3.60500662
7MP0003303_peritoneal_inflammation3.47336321
8* MP0002398_abnormal_bone_marrow3.07908624
9MP0005000_abnormal_immune_tolerance2.98912278
10* MP0002723_abnormal_immune_serum2.93272208
11* MP0002420_abnormal_adaptive_immunity2.90245065
12MP0000689_abnormal_spleen_morphology2.86340526
13* MP0001819_abnormal_immune_cell2.80700397
14* MP0000716_abnormal_immune_system2.69921939
15MP0002396_abnormal_hematopoietic_system2.64360280
16MP0005671_abnormal_response_to2.63110199
17MP0002722_abnormal_immune_system2.41868120
18MP0003763_abnormal_thymus_physiology2.37552125
19MP0004808_abnormal_hematopoietic_stem2.33049892
20* MP0002429_abnormal_blood_cell2.21258149
21MP0008057_abnormal_DNA_replication2.14249384
22MP0002166_altered_tumor_susceptibility2.09752387
23MP0003300_gastrointestinal_ulcer2.09690865
24MP0000703_abnormal_thymus_morphology2.02805452
25MP0005025_abnormal_response_to1.80026878
26MP0001873_stomach_inflammation1.75814710
27MP0010094_abnormal_chromosome_stability1.74630169
28MP0003436_decreased_susceptibility_to1.69288441
29MP0002405_respiratory_system_inflammati1.60666397
30MP0006054_spinal_hemorrhage1.60005665
31MP0009785_altered_susceptibility_to1.57029192
32MP0009278_abnormal_bone_marrow1.56206537
33MP0002419_abnormal_innate_immunity1.55325309
34MP0003077_abnormal_cell_cycle1.55160209
35MP0010155_abnormal_intestine_physiology1.52573162
36MP0005075_abnormal_melanosome_morpholog1.49844980
37MP0001845_abnormal_inflammatory_respons1.45210831
38MP0001348_abnormal_lacrimal_gland1.43520826
39MP0002019_abnormal_tumor_incidence1.42149996
40MP0004947_skin_inflammation1.41066242
41MP0010352_gastrointestinal_tract_polyps1.39617002
42MP0001879_abnormal_lymphatic_vessel1.36521233
43MP0004381_abnormal_hair_follicle1.34142745
44MP0002006_tumorigenesis1.34011648
45MP0003724_increased_susceptibility_to1.32353371
46MP0010234_abnormal_vibrissa_follicle1.31681492
47MP0008961_abnormal_basal_metabolism1.30497824
48MP0003787_abnormal_imprinting1.28173164
49MP0000569_abnormal_digit_pigmentation1.26419097
50MP0002148_abnormal_hypersensitivity_rea1.23825764
51MP0005464_abnormal_platelet_physiology1.20350846
52MP0003866_abnormal_defecation1.19594147
53MP0010307_abnormal_tumor_latency1.18705720
54MP0003111_abnormal_nucleus_morphology1.18030724
55MP0003183_abnormal_peptide_metabolism1.17525995
56MP0001853_heart_inflammation1.17285932
57MP0005076_abnormal_cell_differentiation1.15271149
58MP0009333_abnormal_splenocyte_physiolog1.12999937
59MP0000372_irregular_coat_pigmentation1.11050555
60MP0002933_joint_inflammation1.07700500
61MP0002163_abnormal_gland_morphology1.07523677
62MP0000465_gastrointestinal_hemorrhage1.07139863
63MP0001986_abnormal_taste_sensitivity1.06548530
64MP0003693_abnormal_embryo_hatching1.00946084
65MP0000350_abnormal_cell_proliferation1.00892234
66MP0005310_abnormal_salivary_gland0.99099943
67MP0000490_abnormal_crypts_of0.98502787
68MP0004510_myositis0.94071971
69MP0005397_hematopoietic_system_phenotyp0.94052930
70MP0001545_abnormal_hematopoietic_system0.94052930
71MP0002136_abnormal_kidney_physiology0.92644144
72MP0008874_decreased_physiological_sensi0.87561382
73MP0001730_embryonic_growth_arrest0.84938941
74MP0002928_abnormal_bile_duct0.84003687
75MP0004957_abnormal_blastocyst_morpholog0.83474093
76MP0002095_abnormal_skin_pigmentation0.78056696
77MP0002132_abnormal_respiratory_system0.77220819
78MP0005174_abnormal_tail_pigmentation0.76263439
79MP0003045_fibrosis0.75559834
80MP0008877_abnormal_DNA_methylation0.75493311
81MP0008058_abnormal_DNA_repair0.75163009
82MP0003646_muscle_fatigue0.74196229
83MP0000313_abnormal_cell_death0.70253634
84MP0002909_abnormal_adrenal_gland0.68063518
85MP0002139_abnormal_hepatobiliary_system0.67775426
86MP0005220_abnormal_exocrine_pancreas0.67040733
87MP0008469_abnormal_protein_level0.65492277
88MP0003172_abnormal_lysosome_physiology0.65416992
89MP0002693_abnormal_pancreas_physiology0.65320492
90MP0005379_endocrine/exocrine_gland_phen0.64726488
91MP0009780_abnormal_chondrocyte_physiolo0.64617173
92MP0000015_abnormal_ear_pigmentation0.59891907
93MP0008995_early_reproductive_senescence0.58687170
94MP0001663_abnormal_digestive_system0.58493616
95MP0005645_abnormal_hypothalamus_physiol0.56717621
96MP0008872_abnormal_physiological_respon0.56658589
97* MP0005621_abnormal_cell_physiology0.55536178
98MP0005451_abnormal_body_composition0.54223509
99MP0001915_intracranial_hemorrhage0.54128416
100MP0001784_abnormal_fluid_regulation0.53951456
101MP0002138_abnormal_hepatobiliary_system0.53859215
102MP0009115_abnormal_fat_cell0.52892302
103MP0009931_abnormal_skin_appearance0.51576311
104MP0003984_embryonic_growth_retardation0.51335459
105MP0000371_diluted_coat_color0.51301948
106MP0002083_premature_death0.51100414
107MP0003453_abnormal_keratinocyte_physiol0.50417853
108MP0001919_abnormal_reproductive_system0.50276153
109MP0004197_abnormal_fetal_growth/weight/0.49155792
110MP0001533_abnormal_skeleton_physiology0.47572320
111MP0000249_abnormal_blood_vessel0.47571195
112MP0002080_prenatal_lethality0.47022178
113MP0000477_abnormal_intestine_morphology0.47009322
114MP0002009_preneoplasia0.46958284
115MP0002088_abnormal_embryonic_growth/wei0.46803866
116MP0005166_decreased_susceptibility_to0.46681050
117MP0009765_abnormal_xenobiotic_induced0.45459923
118MP0000613_abnormal_salivary_gland0.44908622
119MP0002653_abnormal_ependyma_morphology0.42851535
120MP0009763_increased_sensitivity_to0.42443073
121MP0009764_decreased_sensitivity_to0.38039862
122MP0000609_abnormal_liver_physiology0.36584746
123MP0000858_altered_metastatic_potential0.35731909

Predicted human phenotypes

RankGene SetZ-score
1Cellulitis (HP:0100658)7.40824811
2Verrucae (HP:0200043)6.93010939
3Papilloma (HP:0012740)6.93010939
4Gastrointestinal stroma tumor (HP:0100723)6.03649625
5Recurrent bronchitis (HP:0002837)5.86448608
6Colitis (HP:0002583)5.49248808
7Recurrent sinusitis (HP:0011108)5.24622198
8Small epiphyses (HP:0010585)5.19794571
9Panhypogammaglobulinemia (HP:0003139)4.82339415
10Meningitis (HP:0001287)4.81526541
11Recurrent viral infections (HP:0004429)4.72825082
12Inflammation of the large intestine (HP:0002037)4.68664605
13Chronic sinusitis (HP:0011109)4.64568393
14Gastrointestinal inflammation (HP:0004386)4.64120845
15B lymphocytopenia (HP:0010976)4.61462045
16Abnormality of B cell number (HP:0010975)4.61462045
17IgM deficiency (HP:0002850)4.58312003
18Thyroiditis (HP:0100646)4.54855092
19Osteomyelitis (HP:0002754)4.34320678
20Lymphopenia (HP:0001888)4.12818807
21Vertebral arch anomaly (HP:0008438)4.00427476
22Abnormality of cells of the lymphoid lineage (HP:0012140)3.95054996
23Recurrent pneumonia (HP:0006532)3.94546430
24Abnormal delayed hypersensitivity skin test (HP:0002963)3.85903317
25Sepsis (HP:0100806)3.81819558
26Recurrent otitis media (HP:0000403)3.76939861
27Mitral stenosis (HP:0001718)3.74273107
28Emphysema (HP:0002097)3.69442253
29Recurrent lower respiratory tract infections (HP:0002783)3.66068769
30Hypoplasia of the capital femoral epiphysis (HP:0003090)3.44224970
31Abnormality of the fingertips (HP:0001211)3.41820720
32Abnormality of the intervertebral disk (HP:0005108)3.39951880
33Bronchitis (HP:0012387)3.31742833
34Flattened epiphyses (HP:0003071)3.29690997
35Chronic otitis media (HP:0000389)3.29673307
36Vasculitis (HP:0002633)3.09920122
37Recurrent fungal infections (HP:0002841)3.05232674
38IgA deficiency (HP:0002720)3.03921349
39Abnormality of the prostate (HP:0008775)3.03305758
40Ulnar bowing (HP:0003031)2.95517792
41Restrictive lung disease (HP:0002091)2.88187359
42Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.84333233
43Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)2.73714955
44Absent epiphyses (HP:0010577)2.73714955
45Chronic mucocutaneous candidiasis (HP:0002728)2.72607370
46Recurrent cutaneous fungal infections (HP:0011370)2.72607370
47Arthropathy (HP:0003040)2.68916738
48IgG deficiency (HP:0004315)2.67929131
49T lymphocytopenia (HP:0005403)2.67299223
50Pulmonary infiltrates (HP:0002113)2.63617145
51Skin rash (HP:0000988)2.57725747
52Eczematoid dermatitis (HP:0000976)2.56915693
53Abnormality of T cells (HP:0002843)2.52117640
54Abnormality of T cell number (HP:0011839)2.50122718
55Lymphoma (HP:0002665)2.49711936
56Irregular vertebral endplates (HP:0003301)2.48679480
57Viral hepatitis (HP:0006562)2.42237884
58Combined immunodeficiency (HP:0005387)2.40700862
59Severe combined immunodeficiency (HP:0004430)2.40611747
60Abnormality of male internal genitalia (HP:0000022)2.36497709
61Limited elbow extension (HP:0001377)2.32713685
62Autoimmune thrombocytopenia (HP:0001973)2.30907934
63Abnormality of T cell physiology (HP:0011840)2.30858573
64Leukopenia (HP:0001882)2.26310786
65Recurrent bacterial skin infections (HP:0005406)2.26140459
66Hypoplasia of the thymus (HP:0000778)2.22396398
67Mediastinal lymphadenopathy (HP:0100721)2.22276843
68Granulocytopenia (HP:0001913)2.21234391
69Recurrent abscess formation (HP:0002722)2.18470412
70Long eyelashes (HP:0000527)2.18388506
71Villous atrophy (HP:0011473)2.14446503
72Abnormality of small intestinal villus morphology (HP:0011472)2.14446503
73Skin ulcer (HP:0200042)2.12046281
74Abnormality of DNA repair (HP:0003254)2.11492955
75Squamous cell carcinoma (HP:0002860)2.08499637
76Neutropenia (HP:0001875)2.08039596
77Hepatitis (HP:0012115)2.07834513
78Recurrent skin infections (HP:0001581)2.07347144
79Abnormality of the pleura (HP:0002103)2.04276086
80Carpal bone hypoplasia (HP:0001498)2.01944055
81Agammaglobulinemia (HP:0004432)10.4679435
82Vertebral clefting (HP:0008428)1.99106061
83Barrel-shaped chest (HP:0001552)1.95857711
84Chest pain (HP:0100749)1.95547509
85Spontaneous hematomas (HP:0007420)1.92645059
86Prostate neoplasm (HP:0100787)1.88637217
87Abnormality of eosinophils (HP:0001879)1.87633759
88Dehydration (HP:0001944)1.86716322
89Abnormality of the vertebral endplates (HP:0005106)1.84968691
90Encephalitis (HP:0002383)1.84101317
91Thrombocytosis (HP:0001894)1.83654683
92Gastrointestinal infarctions (HP:0005244)1.81392128
93Persistence of primary teeth (HP:0006335)1.79958274
94Interstitial pulmonary disease (HP:0006530)1.79661704
95Aortic regurgitation (HP:0001659)1.79591747
96Increased IgM level (HP:0003496)1.79115686
97Volvulus (HP:0002580)1.78691127
98Cutaneous melanoma (HP:0012056)1.78465488
99Arthralgia (HP:0002829)1.78165547
100Abnormality of macrophages (HP:0004311)1.77909634
101Macroorchidism (HP:0000053)1.77883198
102Urticaria (HP:0001025)1.76153438
103Fatigue (HP:0012378)1.75942425
104Basal cell carcinoma (HP:0002671)1.75515448
105Chromosomal breakage induced by crosslinking agents (HP:0003221)1.75004520
106Obstructive lung disease (HP:0006536)1.74601102
107Chronic obstructive pulmonary disease (HP:0006510)1.74601102
108Hematochezia (HP:0002573)1.74453230
109Asplenia (HP:0001746)1.73820391
110Cutis marmorata (HP:0000965)1.73389814
111Hypertensive crisis (HP:0100735)1.73170097
112Leukocytosis (HP:0001974)1.73122273
113Chronic diarrhea (HP:0002028)1.72772739
114Increased IgE level (HP:0003212)1.72159193
115Poikiloderma (HP:0001029)1.72123449
116Autoimmune hemolytic anemia (HP:0001890)1.71363968
117Aplasia/Hypoplasia of the thymus (HP:0010515)1.70930023
118Eosinophilia (HP:0001880)1.70826221
119Pulmonary fibrosis (HP:0002206)1.70148810
120Nasal polyposis (HP:0100582)1.70031725
121Abnormality of the peritoneum (HP:0002585)1.69889657
122Papilledema (HP:0001085)1.68464169
123External ear malformation (HP:0008572)1.65671561
124Optic neuritis (HP:0100653)1.65151693
125Retrobulbar optic neuritis (HP:0100654)1.65151693
126Chromsome breakage (HP:0040012)1.64378647
127Pustule (HP:0200039)1.63879714
128Aqueductal stenosis (HP:0002410)1.63641114
129Abnormality of the thymus (HP:0000777)1.62201863
130Acrocyanosis (HP:0001063)1.62055277
131Deep palmar crease (HP:0006191)1.60612444
132Acute lymphatic leukemia (HP:0006721)1.60342132
133Abnormality of the tricuspid valve (HP:0001702)1.59815373
134Recurrent gram-negative bacterial infections (HP:0005420)1.59716972
135Increased density of long bones (HP:0006392)1.53873136

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP3K106.65676798
2MAP4K15.44379544
3ERN13.63523633
4EEF2K3.53567863
5GRK63.41976133
6PRPF4B3.04783428
7SIK22.72100213
8SYK2.59727489
9BTK2.48116385
10CSF1R2.46037854
11STK102.26027900
12CDK122.23450969
13IRAK42.22175716
14LRRK22.17467707
15RIPK42.11997877
16BLK2.11836537
17SMG12.00701393
18NEK91.62333299
19MAP3K131.57878565
20BMPR21.50873564
21NEK21.36120540
22LYN1.35856385
23HCK1.29536546
24CLK11.25100862
25TYK21.23060462
26CDK41.22897787
27JAK11.19515029
28TRIB31.18113640
29SIK31.17858913
30FES1.17102579
31MARK31.16616398
32BRD41.14013859
33MAP3K141.11266756
34SIK11.10229350
35PIM11.06235393
36EIF2AK31.05561093
37TNK21.04681917
38PKN21.04138647
39TAOK31.02738491
40TAF11.01446510
41FRK0.99776291
42STK40.98806639
43FGFR30.93159624
44CSK0.92405649
45MAPK120.90263183
46RPS6KB20.89327512
47FGFR20.87876667
48LCK0.86742435
49HIPK20.84068823
50MST40.83213660
51ITK0.81834160
52MAPK40.80245857
53MAP3K90.79687583
54CAMK1G0.78479033
55MAP3K70.78161586
56CDK90.77920057
57PRKD20.76555858
58NME20.75505925
59ALK0.75096339
60TXK0.74330446
61IKBKB0.72573328
62JAK30.69776343
63CDC70.69585144
64CCNB10.69509384
65TLK10.68907218
66IKBKE0.68885822
67WNK10.67937130
68PRKCH0.65001875
69CHUK0.64768990
70MAPK70.64336897
71PRKCQ0.63727014
72ZAP700.63126783
73GRK10.62691728
74DYRK1B0.61353038
75MAPK110.61167348
76CDC42BPA0.59724262
77MAP2K20.59563989
78TBK10.57634276
79CAMK1D0.57540051
80PRKD10.56278199
81TEC0.56141180
82MELK0.56138217
83FGR0.52760915
84ABL10.50357386
85MARK20.49207809
86RPS6KB10.49149318
87MAP3K80.48976133
88CDK60.48894069
89CHEK10.48181886
90PRKCI0.47136851
91SGK20.46876251
92TGFBR20.45599583
93PDK10.45199187
94MATK0.45188228
95RPS6KA40.44888136
96CDK190.44321854
97NLK0.43843641
98CSNK1D0.42452680
99ATR0.42064218
100KIT0.40818295
101SCYL20.40535009
102PASK0.39157390
103FYN0.37394804
104SGK30.36829929
105JAK20.35953514
106FGFR40.35385065
107DYRK30.34400554
108TESK20.34007169
109INSR0.33579943
110CDK20.32493028
111PTK60.31921358
112IRAK20.31200257
113RPS6KA60.31071123
114RPS6KC10.30872122
115RPS6KL10.30872122
116MAPK30.30514776
117MAP2K30.29350306
118MTOR0.29165761
119STK240.29033185
120STK30.28839432
121MAPKAPK20.28755767
122IRAK10.28718620
123MAPK130.28540618
124EGFR0.27876808
125CAMKK10.27553078
126PDPK10.26278250
127CDK80.25439364
128ICK0.24955501

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary immunodeficiency_Homo sapiens_hsa053406.62359646
2B cell receptor signaling pathway_Homo sapiens_hsa046626.18354130
3Allograft rejection_Homo sapiens_hsa053304.20180228
4Asthma_Homo sapiens_hsa053104.01053983
5Autoimmune thyroid disease_Homo sapiens_hsa053203.92900660
6Graft-versus-host disease_Homo sapiens_hsa053323.79562389
7Type I diabetes mellitus_Homo sapiens_hsa049403.22979743
8NF-kappa B signaling pathway_Homo sapiens_hsa040642.64207717
9Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046662.40072260
10Hematopoietic cell lineage_Homo sapiens_hsa046402.31344929
11Non-homologous end-joining_Homo sapiens_hsa034502.29701674
12Fc epsilon RI signaling pathway_Homo sapiens_hsa046642.07702017
13Intestinal immune network for IgA production_Homo sapiens_hsa046722.04585630
14Staphylococcus aureus infection_Homo sapiens_hsa051502.01228334
15Osteoclast differentiation_Homo sapiens_hsa043801.95881460
16Base excision repair_Homo sapiens_hsa034101.82699294
17Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.76839936
18Non-small cell lung cancer_Homo sapiens_hsa052231.69417775
19Antigen processing and presentation_Homo sapiens_hsa046121.65390122
20Chronic myeloid leukemia_Homo sapiens_hsa052201.51328678
21Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.50620497
22T cell receptor signaling pathway_Homo sapiens_hsa046601.49481320
23Mismatch repair_Homo sapiens_hsa034301.40360296
24Leishmaniasis_Homo sapiens_hsa051401.37938657
25Epstein-Barr virus infection_Homo sapiens_hsa051691.35059579
26DNA replication_Homo sapiens_hsa030301.31985512
27Chemokine signaling pathway_Homo sapiens_hsa040621.26164519
28Herpes simplex infection_Homo sapiens_hsa051681.26150048
29Measles_Homo sapiens_hsa051621.25270241
30Viral carcinogenesis_Homo sapiens_hsa052031.18918619
31Phosphatidylinositol signaling system_Homo sapiens_hsa040701.16699426
32Acute myeloid leukemia_Homo sapiens_hsa052211.14625943
33Pancreatic cancer_Homo sapiens_hsa052121.13819732
34Hepatitis B_Homo sapiens_hsa051611.13355494
35Platelet activation_Homo sapiens_hsa046111.12157112
36Glioma_Homo sapiens_hsa052141.11894834
37Leukocyte transendothelial migration_Homo sapiens_hsa046701.11616703
38Neurotrophin signaling pathway_Homo sapiens_hsa047221.10831081
39Tuberculosis_Homo sapiens_hsa051521.06731612
40Spliceosome_Homo sapiens_hsa030401.05296635
41Lysine degradation_Homo sapiens_hsa003101.04646977
42* Transcriptional misregulation in cancer_Homo sapiens_hsa052021.02708907
43Toll-like receptor signaling pathway_Homo sapiens_hsa046201.01300243
44Rheumatoid arthritis_Homo sapiens_hsa053231.01235283
45mTOR signaling pathway_Homo sapiens_hsa041500.97317041
46mRNA surveillance pathway_Homo sapiens_hsa030150.96887648
47HTLV-I infection_Homo sapiens_hsa051660.96248683
48MicroRNAs in cancer_Homo sapiens_hsa052060.95208290
49Shigellosis_Homo sapiens_hsa051310.90465784
50Apoptosis_Homo sapiens_hsa042100.88962005
51Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.87848154
52Jak-STAT signaling pathway_Homo sapiens_hsa046300.86985282
53Ribosome_Homo sapiens_hsa030100.86575082
54NOD-like receptor signaling pathway_Homo sapiens_hsa046210.86418068
55Toxoplasmosis_Homo sapiens_hsa051450.85613946
56Inositol phosphate metabolism_Homo sapiens_hsa005620.85475018
57Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.83812004
58Systemic lupus erythematosus_Homo sapiens_hsa053220.83286549
59Influenza A_Homo sapiens_hsa051640.83035293
60VEGF signaling pathway_Homo sapiens_hsa043700.81776411
61Cell cycle_Homo sapiens_hsa041100.80523723
62Small cell lung cancer_Homo sapiens_hsa052220.80214766
63RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.79973906
64FoxO signaling pathway_Homo sapiens_hsa040680.79616340
65AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.77995616
66Thyroid hormone signaling pathway_Homo sapiens_hsa049190.74142591
67Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.73908621
68Colorectal cancer_Homo sapiens_hsa052100.69759408
69Homologous recombination_Homo sapiens_hsa034400.68334045
70Prostate cancer_Homo sapiens_hsa052150.68299238
71Insulin resistance_Homo sapiens_hsa049310.66246879
72Viral myocarditis_Homo sapiens_hsa054160.61903049
73MAPK signaling pathway_Homo sapiens_hsa040100.61465706
74Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.60651829
75p53 signaling pathway_Homo sapiens_hsa041150.57879469
76Phospholipase D signaling pathway_Homo sapiens_hsa040720.57564570
77Renal cell carcinoma_Homo sapiens_hsa052110.56150917
78Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.55847776
79Type II diabetes mellitus_Homo sapiens_hsa049300.52863843
80Proteoglycans in cancer_Homo sapiens_hsa052050.52832079
81African trypanosomiasis_Homo sapiens_hsa051430.52461218
82Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.52276735
83Alcoholism_Homo sapiens_hsa050340.51755953
84ErbB signaling pathway_Homo sapiens_hsa040120.51579985
85Choline metabolism in cancer_Homo sapiens_hsa052310.51527293
86Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.51387182
87Prolactin signaling pathway_Homo sapiens_hsa049170.50719827
88Hepatitis C_Homo sapiens_hsa051600.50596813
89Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.50137415
90Notch signaling pathway_Homo sapiens_hsa043300.49526367
91Fanconi anemia pathway_Homo sapiens_hsa034600.49264297
92RNA transport_Homo sapiens_hsa030130.49054411
93TNF signaling pathway_Homo sapiens_hsa046680.48525788
94Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.48152164
95HIF-1 signaling pathway_Homo sapiens_hsa040660.46625057
96Aldosterone synthesis and secretion_Homo sapiens_hsa049250.45662993
97Endometrial cancer_Homo sapiens_hsa052130.43667353
98Nucleotide excision repair_Homo sapiens_hsa034200.41252787
99Estrogen signaling pathway_Homo sapiens_hsa049150.39678158
100Carbohydrate digestion and absorption_Homo sapiens_hsa049730.39099591
101Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.39030195
102RNA degradation_Homo sapiens_hsa030180.38598394
103Phagosome_Homo sapiens_hsa041450.38133696
104Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.37860383
105Endocytosis_Homo sapiens_hsa041440.36994484
106Olfactory transduction_Homo sapiens_hsa047400.36162059
107Long-term potentiation_Homo sapiens_hsa047200.35319195
108Dorso-ventral axis formation_Homo sapiens_hsa043200.33595249
109Malaria_Homo sapiens_hsa051440.33567809
110cGMP-PKG signaling pathway_Homo sapiens_hsa040220.31872571
111Insulin signaling pathway_Homo sapiens_hsa049100.30862372
112Salmonella infection_Homo sapiens_hsa051320.30596622
113Glucagon signaling pathway_Homo sapiens_hsa049220.29637400
114Sphingolipid signaling pathway_Homo sapiens_hsa040710.23616206
115Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.18635392
116Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.18391065
117One carbon pool by folate_Homo sapiens_hsa006700.17108003
118Cholinergic synapse_Homo sapiens_hsa047250.13727322
119Renin-angiotensin system_Homo sapiens_hsa046140.11201785
120Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.11192554

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