SIPA1

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





Description: The product of this gene is a mitogen induced GTPase activating protein (GAP). It exhibits a specific GAP activity for Ras-related regulatory proteins Rap1 and Rap2, but not for Ran or other small GTPases. This protein may also hamper mitogen-induced cell cycle progression when abnormally or prematurely expressed. It is localized to the perinuclear region. Two alternatively spliced variants encoding the same isoform have been characterized to date. 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)6.36409594
2antigen processing and presentation of endogenous antigen (GO:0019883)5.97671446
3antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)5.89754395
4antigen processing and presentation of endogenous peptide antigen (GO:0002483)5.89754395
5B cell receptor signaling pathway (GO:0050853)5.26029040
6regulation of gamma-delta T cell differentiation (GO:0045586)5.20849703
7regulation of B cell receptor signaling pathway (GO:0050855)5.19028630
8positive thymic T cell selection (GO:0045059)4.98074374
9positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)4.81284793
10negative regulation of leukocyte mediated cytotoxicity (GO:0001911)4.76907773
11negative regulation of cell killing (GO:0031342)4.76907773
12regulation of gamma-delta T cell activation (GO:0046643)4.74593646
13detection of bacterium (GO:0016045)4.74109355
14detection of other organism (GO:0098543)4.73177485
15positive regulation of B cell differentiation (GO:0045579)4.68194656
16neutrophil activation involved in immune response (GO:0002283)4.66489820
17regulation of B cell differentiation (GO:0045577)4.55660067
18response to peptidoglycan (GO:0032494)4.22684573
19response to interleukin-15 (GO:0070672)4.14410127
20negative thymic T cell selection (GO:0045060)3.93530055
21leukocyte aggregation (GO:0070486)3.88861297
22thymic T cell selection (GO:0045061)3.87920821
23negative T cell selection (GO:0043383)3.84988277
24negative regulation of phagocytosis (GO:0050765)3.84981781
25tolerance induction (GO:0002507)3.82528437
26negative regulation of lymphocyte mediated immunity (GO:0002707)3.82010037
27detection of external biotic stimulus (GO:0098581)3.76970361
28positive T cell selection (GO:0043368)3.74876758
29antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.72458017
30regulation of interleukin-12 biosynthetic process (GO:0045075)3.61426318
31cellular response to zinc ion (GO:0071294)3.56973458
32regulation of interferon-beta biosynthetic process (GO:0045357)3.56724398
33response to host immune response (GO:0052572)3.56675400
34response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.56675400
35positive regulation of histone deacetylation (GO:0031065)3.55947107
36regulation of mast cell degranulation (GO:0043304)3.55040892
37T cell migration (GO:0072678)3.54317538
38negative regulation of leukocyte mediated immunity (GO:0002704)3.54228031
39neutrophil activation (GO:0042119)3.50470096
40regulation of dendritic cell antigen processing and presentation (GO:0002604)3.50063664
41cellular response to interleukin-15 (GO:0071350)3.49325095
42type I interferon signaling pathway (GO:0060337)3.48539162
43cellular response to type I interferon (GO:0071357)3.48539162
44T cell selection (GO:0045058)3.48506735
45response to type I interferon (GO:0034340)3.47645655
46antigen receptor-mediated signaling pathway (GO:0050851)3.42411054
47myeloid cell activation involved in immune response (GO:0002275)3.41373567
48negative regulation of T cell mediated immunity (GO:0002710)3.35602250
49response to host (GO:0075136)3.34680976
50response to host defenses (GO:0052200)3.34680976
51response to defenses of other organism involved in symbiotic interaction (GO:0052173)3.34680976
52detection of biotic stimulus (GO:0009595)3.32634242
53regulation of myeloid leukocyte mediated immunity (GO:0002886)3.32596893
54natural killer cell differentiation (GO:0001779)3.32542861
55immunoglobulin mediated immune response (GO:0016064)3.30096735
56cellular extravasation (GO:0045123)3.29580427
57mature B cell differentiation (GO:0002335)3.28281919
58T cell homeostasis (GO:0043029)3.27828590
59regulation of antigen receptor-mediated signaling pathway (GO:0050854)3.24904053
60Arp2/3 complex-mediated actin nucleation (GO:0034314)3.24555013
61granulocyte activation (GO:0036230)3.24547036
62lymphocyte homeostasis (GO:0002260)3.23910087
63regulation of leukocyte degranulation (GO:0043300)3.23318924
64negative regulation of granulocyte differentiation (GO:0030853)3.23150278
65regulation of antigen processing and presentation (GO:0002577)3.21916935
66regulation of mast cell activation involved in immune response (GO:0033006)3.21857189
67negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)3.18179478
68regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)3.15988531
69regulation of tolerance induction (GO:0002643)3.07754720
70antigen processing and presentation via MHC class Ib (GO:0002475)3.07325878
71positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)3.04517668
72positive regulation of antigen processing and presentation (GO:0002579)3.04001453
73regulation of natural killer cell mediated cytotoxicity (GO:0042269)3.03778563
74regulation of natural killer cell mediated immunity (GO:0002715)3.03778563
75positive regulation by symbiont of host defense response (GO:0052509)3.02266935
76modulation by symbiont of host defense response (GO:0052031)3.02266935
77modulation by organism of immune response of other organism involved in symbiotic interaction (GO:003.02266935
78modulation by organism of defense response of other organism involved in symbiotic interaction (GO:03.02266935
79positive regulation by organism of defense response of other organism involved in symbiotic interact3.02266935
80modulation by symbiont of host immune response (GO:0052553)3.02266935
81macrophage activation (GO:0042116)3.02211590
82negative regulation of erythrocyte differentiation (GO:0045647)3.01934668
83detection of molecule of bacterial origin (GO:0032490)3.01643940
84leukocyte migration involved in inflammatory response (GO:0002523)3.00072673
85microglial cell activation (GO:0001774)2.98743081
86regulation of type I interferon-mediated signaling pathway (GO:0060338)2.98381179
87JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)2.97708555
88negative regulation of innate immune response (GO:0045824)2.94577663
89B cell homeostasis (GO:0001782)2.93101266
90positive regulation of mast cell activation (GO:0033005)2.92370607
91leukocyte degranulation (GO:0043299)2.92250069
92T cell costimulation (GO:0031295)2.91485695
93B cell proliferation (GO:0042100)2.90579557
94regulation of T cell mediated cytotoxicity (GO:0001914)2.89450604
95positive regulation of protein deacetylation (GO:0090312)2.89282568
96negative regulation of bone resorption (GO:0045779)2.89123054
97endothelial tube morphogenesis (GO:0061154)2.89082451
98morphogenesis of an endothelium (GO:0003159)2.89082451
99regulation of T cell tolerance induction (GO:0002664)2.87260555
100regulation of mast cell activation (GO:0033003)2.87207512
101positive regulation of lamellipodium assembly (GO:0010592)2.86863855
102T cell receptor signaling pathway (GO:0050852)2.86360802
103activated T cell proliferation (GO:0050798)2.85471037
104immune response-activating cell surface receptor signaling pathway (GO:0002429)2.85042085
105lymphocyte costimulation (GO:0031294)2.84825946
106lymph node development (GO:0048535)2.84694955
107megakaryocyte development (GO:0035855)2.84476723
108positive regulation of T cell mediated cytotoxicity (GO:0001916)2.83896255
109regulation of granulocyte differentiation (GO:0030852)2.83797181
110NIK/NF-kappaB signaling (GO:0038061)2.82878703
111leukocyte homeostasis (GO:0001776)2.82474968
112negative regulation of interleukin-6 production (GO:0032715)2.82327588
113regulation of antigen processing and presentation of peptide antigen (GO:0002583)2.81735225
114negative regulation of B cell proliferation (GO:0030889)2.81660210
115negative regulation of cytokine production involved in immune response (GO:0002719)2.81479905
116leukocyte cell-cell adhesion (GO:0007159)2.81243389
117interferon-gamma production (GO:0032609)2.80503153
118regulation of alpha-beta T cell proliferation (GO:0046640)2.79795577
119negative regulation of interleukin-12 production (GO:0032695)2.78954600
120lipopolysaccharide-mediated signaling pathway (GO:0031663)2.78539106
121response to muramyl dipeptide (GO:0032495)2.76611600
122positive regulation of interferon-alpha production (GO:0032727)2.74000513
123positive regulation of type I interferon-mediated signaling pathway (GO:0060340)2.73707404
124regulation of B cell proliferation (GO:0030888)2.71470199
125positive regulation of isotype switching (GO:0045830)2.70315578
126response to laminar fluid shear stress (GO:0034616)2.68349009
127regulation of erythrocyte differentiation (GO:0045646)2.67211601
128defense response to protozoan (GO:0042832)2.66675924
129erythrocyte maturation (GO:0043249)2.63611776
130positive regulation of interleukin-2 biosynthetic process (GO:0045086)2.63328594
131positive regulation of granulocyte differentiation (GO:0030854)2.62540801
132mature B cell differentiation involved in immune response (GO:0002313)2.62178261
133respiratory burst (GO:0045730)2.62160048
134response to protozoan (GO:0001562)2.61732717
135positive regulation of B cell activation (GO:0050871)2.61674865
136myeloid dendritic cell activation (GO:0001773)2.61293105
137B cell mediated immunity (GO:0019724)2.61161713
138angiogenesis involved in wound healing (GO:0060055)2.60461564
139natural killer cell activation (GO:0030101)2.58988348
140regulation of response to interferon-gamma (GO:0060330)2.58393983
141positive regulation of interleukin-2 production (GO:0032743)2.58310503
142regulation of interferon-alpha production (GO:0032647)2.57754155
143interferon-gamma-mediated signaling pathway (GO:0060333)2.56895927
144regulation of interferon-gamma-mediated signaling pathway (GO:0060334)2.56461417
145germinal center formation (GO:0002467)2.55680096
146macrophage activation involved in immune response (GO:0002281)2.55448944

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human4.83110117
2MYC_22102868_ChIP-Seq_BL_Human4.18431822
3IRF8_22096565_ChIP-ChIP_GC-B_Human3.92962316
4STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.62712261
5FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.53598454
6VDR_21846776_ChIP-Seq_THP-1_Human3.42571677
7EGR1_19374776_ChIP-ChIP_THP-1_Human3.17731284
8MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.15231767
9IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.88238230
10SCL_19346495_ChIP-Seq_HPC-7_Human2.82115041
11SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.82066942
12IRF8_21731497_ChIP-ChIP_J774_Mouse2.78922596
13* NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.67250384
14FOXM1_23109430_ChIP-Seq_U2OS_Human2.64025889
15* MAF_26560356_Chip-Seq_TH1_Human2.54197986
16* TCF7_22412390_ChIP-Seq_EML_Mouse2.40782725
17* UTX_26944678_Chip-Seq_JUKART_Human2.37257845
18FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse2.37189877
19RUNX_20019798_ChIP-Seq_JUKART_Human2.36496676
20MYB_26560356_Chip-Seq_TH2_Human2.35986014
21IRF8_27001747_Chip-Seq_BMDM_Mouse2.35125592
22SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.29605829
23VDR_24763502_ChIP-Seq_THP-1_Human2.28633066
24MYB_26560356_Chip-Seq_TH1_Human2.24417860
25* E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human2.23381303
26MYB_21317192_ChIP-Seq_ERMYB_Mouse2.20464463
27SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.19514178
28RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.18346440
29* NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.14815101
30STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.08329722
31* SPI1_23547873_ChIP-Seq_NB4_Human2.04193379
32NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.02683001
33BRD4_27068464_Chip-Seq_AML-cells_Mouse2.02264541
34KDM2B_26808549_Chip-Seq_DND41_Human2.01379882
35* ASXL1_24218140_ChIP-Seq_BMDM_Mouse2.01224535
36STAT4_19710469_ChIP-ChIP_TH1__Mouse2.01114211
37KDM2B_26808549_Chip-Seq_HPB-ALL_Human2.00411376
38RUNX1_22412390_ChIP-Seq_EML_Mouse1.96272305
39EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.95647581
40* KDM2B_26808549_Chip-Seq_SUP-B15_Human1.91197177
41KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.89949241
42* ELK3_25401928_ChIP-Seq_HUVEC_Human1.88930773
43SPI1_23127762_ChIP-Seq_K562_Human1.80942222
44CIITA_25753668_ChIP-Seq_RAJI_Human1.80029555
45IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.77172619
46TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.72232941
47* MAF_26560356_Chip-Seq_TH2_Human1.70819508
48BP1_19119308_ChIP-ChIP_Hs578T_Human1.66286366
49FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.64430972
50TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.58926859
51SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.53393021
52MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.52996669
53* TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.51193166
54NOTCH1_21737748_ChIP-Seq_TLL_Human1.46449140
55* GATA1_22383799_ChIP-Seq_G1ME_Mouse1.44050581
56VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.42766655
57GATA2_22383799_ChIP-Seq_G1ME_Mouse1.40108509
58STAT6_21828071_ChIP-Seq_BEAS2B_Human1.38614712
59E2F4_17652178_ChIP-ChIP_JURKAT_Human1.37157320
60GATA3_27048872_Chip-Seq_THYMUS_Human1.35214620
61BCOR_27268052_Chip-Seq_Bcells_Human1.32379035
62STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.29744508
63GATA1_19941827_ChIP-Seq_MEL_Mouse1.29337953
64* PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.28514088
65LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.28221923
66GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.28149988
67VDR_24787735_ChIP-Seq_THP-1_Human1.23288351
68* LXR_22292898_ChIP-Seq_THP-1_Human1.20494017
69ELF1_17652178_ChIP-ChIP_JURKAT_Human1.19831389
70IKZF1_21737484_ChIP-ChIP_HCT116_Human1.19783893
71GATA1_22025678_ChIP-Seq_K562_Human1.18967271
72GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.17298507
73* P68_20966046_ChIP-Seq_HELA_Human1.17226045
74FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.17120672
75KDM2B_26808549_Chip-Seq_JURKAT_Human1.16141695
76* SA1_27219007_Chip-Seq_ERYTHROID_Human1.15509966
77RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.15277336
78* NCOR1_26117541_ChIP-Seq_K562_Human1.14751438
79RACK7_27058665_Chip-Seq_MCF-7_Human1.13959917
80Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.11687127
81* PU_27001747_Chip-Seq_BMDM_Mouse1.11173960
82CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.10518987
83ERG_20887958_ChIP-Seq_HPC-7_Mouse1.09915063
84GATA1_19941826_ChIP-Seq_K562_Human1.06914531
85* CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.05130170
86CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.03609433
87VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.03542840
88CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.03535146
89* SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.00817810
90PU.1_20513432_ChIP-Seq_Bcells_Mouse0.99976142
91PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.99523456
92KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.99186537
93THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.98925255
94GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.95891271
95LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.95760169
96TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.94854263
97E2F1_21310950_ChIP-Seq_MCF-7_Human0.94411220
98GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.93916638
99KDM2B_26808549_Chip-Seq_K562_Human0.92922852
100* NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.91291690
101CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse0.90861133
102CTCF_26484167_Chip-Seq_Bcells_Mouse0.90768525
103RARG_19884340_ChIP-ChIP_MEFs_Mouse0.90004034
104HOXB4_20404135_ChIP-ChIP_EML_Mouse0.89431869
105BCL6_27268052_Chip-Seq_Bcells_Human0.88173989
106RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.87958741
107FOXP3_21729870_ChIP-Seq_TREG_Human0.85677650
108CTCF_27219007_Chip-Seq_ERYTHROID_Human0.85230291
109SPI1_20517297_ChIP-Seq_HL60_Human0.83362327
110GATA2_19941826_ChIP-Seq_K562_Human0.83313291
111FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.81946148
112CTCF_21964334_ChIP-Seq_BJAB-B_Human0.80155041
113* PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.79946479
114DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.79917612
115* ELF1_20517297_ChIP-Seq_JURKAT_Human0.79281023
116KDM5A_27292631_Chip-Seq_BREAST_Human0.79129518
117SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.78890212
118SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.78603222
119GATA3_26560356_Chip-Seq_TH2_Human0.78403970
120TFEB_21752829_ChIP-Seq_HELA_Human0.76056098

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001835_abnormal_antigen_presentation3.69741728
2MP0001800_abnormal_humoral_immune3.37096715
3MP0000685_abnormal_immune_system3.31395011
4MP0003303_peritoneal_inflammation3.27119418
5MP0005387_immune_system_phenotype3.20726915
6MP0001790_abnormal_immune_system3.20726915
7MP0002396_abnormal_hematopoietic_system2.99849753
8MP0005671_abnormal_response_to2.97798074
9MP0003763_abnormal_thymus_physiology2.90414428
10MP0002452_abnormal_antigen_presenting2.80092705
11MP0005000_abnormal_immune_tolerance2.58416224
12* MP0002398_abnormal_bone_marrow2.57794873
13MP0002420_abnormal_adaptive_immunity2.57667408
14MP0002723_abnormal_immune_serum2.55151643
15MP0003300_gastrointestinal_ulcer2.53190294
16MP0001819_abnormal_immune_cell2.52807590
17MP0003436_decreased_susceptibility_to2.32995931
18* MP0000689_abnormal_spleen_morphology2.24675959
19* MP0000716_abnormal_immune_system2.24593846
20MP0005025_abnormal_response_to2.13872947
21MP0002166_altered_tumor_susceptibility2.13854526
22MP0005464_abnormal_platelet_physiology2.13052366
23MP0009278_abnormal_bone_marrow2.11451651
24* MP0002722_abnormal_immune_system2.10549270
25MP0002419_abnormal_innate_immunity2.07008205
26MP0009785_altered_susceptibility_to2.04502936
27MP0001873_stomach_inflammation2.01848336
28MP0002405_respiratory_system_inflammati2.01345661
29* MP0004808_abnormal_hematopoietic_stem1.95551434
30* MP0002429_abnormal_blood_cell1.94784458
31MP0009333_abnormal_splenocyte_physiolog1.93448491
32MP0000703_abnormal_thymus_morphology1.84881102
33MP0000465_gastrointestinal_hemorrhage1.81323119
34MP0005397_hematopoietic_system_phenotyp1.77074718
35MP0001545_abnormal_hematopoietic_system1.77074718
36MP0010155_abnormal_intestine_physiology1.74713373
37MP0008260_abnormal_autophagy1.72396649
38MP0005451_abnormal_body_composition1.61353427
39MP0004510_myositis1.59091857
40MP0006082_CNS_inflammation1.58997430
41MP0003191_abnormal_cellular_cholesterol1.57528120
42MP0001845_abnormal_inflammatory_respons1.56877534
43MP0002148_abnormal_hypersensitivity_rea1.56659795
44MP0004947_skin_inflammation1.52182601
45MP0002006_tumorigenesis1.48665325
46MP0001853_heart_inflammation1.43127646
47MP0003866_abnormal_defecation1.42227888
48MP0010352_gastrointestinal_tract_polyps1.38829595
49MP0002933_joint_inflammation1.36420180
50MP0002138_abnormal_hepatobiliary_system1.34836933
51MP0002132_abnormal_respiratory_system1.31491071
52MP0000490_abnormal_crypts_of1.29906262
53MP0003724_increased_susceptibility_to1.28017694
54MP0001879_abnormal_lymphatic_vessel1.25454568
55MP0003566_abnormal_cell_adhesion1.22786185
56MP0009764_decreased_sensitivity_to1.19768326
57MP0001533_abnormal_skeleton_physiology1.17854215
58MP0003077_abnormal_cell_cycle1.16246573
59MP0003075_altered_response_to1.14454032
60MP0010368_abnormal_lymphatic_system1.10858035
61MP0004381_abnormal_hair_follicle1.10689144
62MP0006054_spinal_hemorrhage1.10634539
63MP0008469_abnormal_protein_level1.09222842
64* MP0002019_abnormal_tumor_incidence1.08846008
65MP0003172_abnormal_lysosome_physiology1.07793236
66MP0010094_abnormal_chromosome_stability1.07119613
67MP0005076_abnormal_cell_differentiation1.07085286
68MP0005310_abnormal_salivary_gland1.02428994
69MP0010307_abnormal_tumor_latency1.02133900
70MP0005174_abnormal_tail_pigmentation1.01620058
71MP0003828_pulmonary_edema1.00407006
72MP0004883_abnormal_blood_vessel0.98868158
73MP0008961_abnormal_basal_metabolism0.98837029
74MP0003279_aneurysm0.98650528
75MP0000858_altered_metastatic_potential0.97982831
76MP0005023_abnormal_wound_healing0.97842883
77MP0003693_abnormal_embryo_hatching0.93877426
78MP0003448_altered_tumor_morphology0.93349916
79MP0003705_abnormal_hypodermis_morpholog0.92881895
80MP0005058_abnormal_lysosome_morphology0.91357928
81MP0003111_abnormal_nucleus_morphology0.90242633
82MP0005390_skeleton_phenotype0.87160975
83MP0003045_fibrosis0.86954400
84MP0008057_abnormal_DNA_replication0.86479753
85MP0003690_abnormal_glial_cell0.85849152
86MP0003183_abnormal_peptide_metabolism0.85283995
87MP0001851_eye_inflammation0.85019154
88MP0003656_abnormal_erythrocyte_physiolo0.83394384
89MP0003091_abnormal_cell_migration0.81825707
90MP0000767_abnormal_smooth_muscle0.81515862
91MP0000249_abnormal_blood_vessel0.81345600
92MP0000343_altered_response_to0.78244138
93MP0002277_abnormal_respiratory_mucosa0.77534482
94MP0000604_amyloidosis0.77423878
95MP0009840_abnormal_foam_cell0.75953763
96MP0008007_abnormal_cellular_replicative0.75702918
97MP0005164_abnormal_response_to0.75620048
98MP0000350_abnormal_cell_proliferation0.71976887
99MP0000313_abnormal_cell_death0.71590083
100MP0001915_intracranial_hemorrhage0.68029823
101MP0001663_abnormal_digestive_system0.67400560
102MP0003795_abnormal_bone_structure0.66871653
103MP0008004_abnormal_stomach_pH0.66597653
104MP0002136_abnormal_kidney_physiology0.66172346
105MP0000015_abnormal_ear_pigmentation0.65390175
106MP0002998_abnormal_bone_remodeling0.64073404
107MP0001986_abnormal_taste_sensitivity0.63914563
108MP0002928_abnormal_bile_duct0.63602741
109MP0003806_abnormal_nucleotide_metabolis0.62503213
110MP0010630_abnormal_cardiac_muscle0.61359394
111MP0008874_decreased_physiological_sensi0.61000895
112MP0009763_increased_sensitivity_to0.60459192
113MP0004858_abnormal_nervous_system0.60369870
114MP0000477_abnormal_intestine_morphology0.59980488
115MP0000733_abnormal_muscle_development0.59215850
116MP0001730_embryonic_growth_arrest0.58678732
117MP0000569_abnormal_digit_pigmentation0.58572901
118MP0009765_abnormal_xenobiotic_induced0.57893701
119MP0005166_decreased_susceptibility_to0.56902859
120MP0005075_abnormal_melanosome_morpholog0.56445255
121MP0003453_abnormal_keratinocyte_physiol0.56064864
122MP0004185_abnormal_adipocyte_glucose0.56037100
123MP0005381_digestive/alimentary_phenotyp0.54614738
124MP0001849_ear_inflammation0.49001281
125MP0005319_abnormal_enzyme/_coenzyme0.45774807
126MP0002693_abnormal_pancreas_physiology0.45592668
127MP0001348_abnormal_lacrimal_gland0.45244714

Predicted human phenotypes

RankGene SetZ-score
1Agammaglobulinemia (HP:0004432)5.27843174
2Cellulitis (HP:0100658)4.67526782
3IgM deficiency (HP:0002850)4.65890809
4Colitis (HP:0002583)4.37685331
5Recurrent bronchitis (HP:0002837)4.37607109
6Abnormal delayed hypersensitivity skin test (HP:0002963)4.35506985
7Orchitis (HP:0100796)4.34985743
8Recurrent viral infections (HP:0004429)4.31251116
9Inflammation of the large intestine (HP:0002037)4.22029062
10Panhypogammaglobulinemia (HP:0003139)4.21141840
11Gastrointestinal inflammation (HP:0004386)4.18805286
12Recurrent abscess formation (HP:0002722)4.05089060
13Chronic otitis media (HP:0000389)3.99670433
14Retrobulbar optic neuritis (HP:0100654)3.93917747
15Optic neuritis (HP:0100653)3.93917747
16Stomatitis (HP:0010280)3.93537142
17Verrucae (HP:0200043)3.90313383
18Papilloma (HP:0012740)3.90313383
19Gastrointestinal stroma tumor (HP:0100723)3.87404897
20Recurrent fungal infections (HP:0002841)3.79898021
21Meningitis (HP:0001287)3.71418167
22Eczematoid dermatitis (HP:0000976)3.65738823
23Abnormality of the fingertips (HP:0001211)3.55537850
24Spontaneous hematomas (HP:0007420)3.52370035
25Gastrointestinal infarctions (HP:0005244)3.51714529
26Recurrent bacterial skin infections (HP:0005406)3.48580603
27Lymphopenia (HP:0001888)3.37094960
28Recurrent cutaneous fungal infections (HP:0011370)3.26980467
29Chronic mucocutaneous candidiasis (HP:0002728)3.26980467
30Abnormality of the nasal mucosa (HP:0000433)3.25507326
31Abnormality of cells of the lymphoid lineage (HP:0012140)3.25073151
32Recurrent sinusitis (HP:0011108)3.22041439
33Gingivitis (HP:0000230)3.19618400
34Nasal polyposis (HP:0100582)3.18114967
35T lymphocytopenia (HP:0005403)3.16772890
36Urticaria (HP:0001025)3.15081071
37Abnormality of T cells (HP:0002843)3.12834452
38Emphysema (HP:0002097)3.11309668
39Pustule (HP:0200039)3.01886531
40Hematochezia (HP:0002573)2.99622444
41Abnormality of T cell number (HP:0011839)2.99601786
42Abnormality of T cell physiology (HP:0011840)2.94989631
43Prolonged bleeding time (HP:0003010)2.94498297
44Vasculitis (HP:0002633)2.92844560
45Autoimmune thrombocytopenia (HP:0001973)2.91500969
46Recurrent skin infections (HP:0001581)2.89712401
47Elevated erythrocyte sedimentation rate (HP:0003565)2.85689756
48Keratoconjunctivitis sicca (HP:0001097)2.81279819
49Thrombocytosis (HP:0001894)2.80975847
50Osteomyelitis (HP:0002754)2.78862338
51Cerebral aneurysm (HP:0004944)2.76740415
52Thyroiditis (HP:0100646)2.74943879
53Myositis (HP:0100614)2.73623307
54Hypochromic anemia (HP:0001931)2.69119133
55Chronic sinusitis (HP:0011109)2.69053161
56Hemoptysis (HP:0002105)2.66292270
57B lymphocytopenia (HP:0010976)2.65098700
58Abnormality of B cell number (HP:0010975)2.65098700
59Mediastinal lymphadenopathy (HP:0100721)2.64083063
60IgA deficiency (HP:0002720)2.59597024
61Hypochromic microcytic anemia (HP:0004840)2.56894109
62Keratoconjunctivitis (HP:0001096)2.55320839
63Increased IgM level (HP:0003496)2.55293881
64Chronic diarrhea (HP:0002028)2.47465293
65Chronic obstructive pulmonary disease (HP:0006510)2.45187803
66Obstructive lung disease (HP:0006536)2.45187803
67Interstitial pulmonary disease (HP:0006530)2.43650531
68Restrictive lung disease (HP:0002091)2.39211061
69Increased IgE level (HP:0003212)2.38741751
70Episodic fever (HP:0001954)2.37163416
71Increased density of long bones (HP:0006392)2.34291522
72Bronchitis (HP:0012387)2.33649926
73Purpura (HP:0000979)2.31072631
74Pulmonary embolism (HP:0002204)2.29768287
75Recurrent lower respiratory tract infections (HP:0002783)2.28705081
76Hypergammaglobulinemia (HP:0010702)2.28479482
77Sepsis (HP:0100806)2.26935123
78Impaired platelet aggregation (HP:0003540)2.26417683
79Abnormal platelet function (HP:0011869)2.26417683
80Epistaxis (HP:0000421)2.25785560
81Increased cerebral lipofuscin (HP:0011813)2.25302728
82Chest pain (HP:0100749)2.25063173
83Lymphoma (HP:0002665)2.24075403
84Petechiae (HP:0000967)2.22228396
85IgG deficiency (HP:0004315)2.21411868
86Abnormality of liposaccharide metabolism (HP:0010968)2.21399407
87Abnormality of glycosphingolipid metabolism (HP:0004343)2.21399407
88Abnormality of glycolipid metabolism (HP:0010969)2.21399407
89Combined immunodeficiency (HP:0005387)2.19428469
90Aortic aneurysm (HP:0004942)2.19183501
91Fatigue (HP:0012378)2.18873453
92Anorexia (HP:0002039)2.17750632
93Eosinophilia (HP:0001880)2.16258514
94Microcytic anemia (HP:0001935)2.16236900
95Recurrent pneumonia (HP:0006532)2.14665328
96Amyloidosis (HP:0011034)2.14388177
97Recurrent gram-negative bacterial infections (HP:0005420)2.14161074
98Skin ulcer (HP:0200042)2.12777977
99Loss of speech (HP:0002371)2.10494327
100Dysostosis multiplex (HP:0000943)2.10132935
101Hepatosplenomegaly (HP:0001433)2.08882387
102Abnormality of the pleura (HP:0002103)2.08529054
103Viral hepatitis (HP:0006562)2.07899836
104Increased serum ferritin (HP:0003281)2.07588377
105Severe combined immunodeficiency (HP:0004430)2.07288356
106Hypertensive crisis (HP:0100735)2.06748974
107Abnormality of the peritoneum (HP:0002585)2.03774776
108Leukocytosis (HP:0001974)2.03296539
109Premature loss of primary teeth (HP:0006323)2.02997907
110Basal cell carcinoma (HP:0002671)2.02819137
111Encephalitis (HP:0002383)2.01641731
112Arterial thrombosis (HP:0004420)2.00238222
113Granulocytopenia (HP:0001913)1.99853026
114Recurrent otitis media (HP:0000403)1.99261341
115Polycythemia (HP:0001901)1.98920783
116Leukopenia (HP:0001882)1.98507581
117Hyperacusis (HP:0010780)1.98326755
118Abnormal platelet volume (HP:0011876)1.97497607
119Bicuspid aortic valve (HP:0001647)1.95574432
120Skin rash (HP:0000988)1.94409817
121Autoimmune hemolytic anemia (HP:0001890)1.93508393
122Peritonitis (HP:0002586)1.91439324
123Arthralgia (HP:0002829)1.91055660
124Increased neuronal autofluorescent lipopigment (HP:0002074)1.90860306
125Periodontitis (HP:0000704)1.89945593
126Glomerulopathy (HP:0100820)1.89257927
127Systemic lupus erythematosus (HP:0002725)1.88741439
128Abnormality of macrophages (HP:0004311)1.88407756
129Abnormality of iron homeostasis (HP:0011031)1.87375851
130Parkinsonism with favorable response to dopaminergic medication (HP:0002548)1.87195984
131Abnormality of eosinophils (HP:0001879)1.86719985
132Pulmonary infiltrates (HP:0002113)1.85290303
133Thoracic kyphosis (HP:0002942)1.84950750
134Spondylolisthesis (HP:0003302)1.84147944
135High pitched voice (HP:0001620)1.83168131
136Gingival bleeding (HP:0000225)1.82175790
137Disproportionate tall stature (HP:0001519)1.81332557
138Long eyelashes (HP:0000527)1.79321299
139Mitral stenosis (HP:0001718)1.79182114

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP4K15.55323320
2MAP3K103.57339464
3EEF2K3.26708195
4PRPF4B3.14955107
5ERN12.57682867
6STK102.55343094
7TGFBR22.52749771
8GRK62.35788237
9PKN22.23651075
10CSF1R2.23647148
11TYK22.22617320
12TRIB32.15074318
13BLK2.11794536
14JAK32.06798676
15BTK2.06794517
16ZAP702.04506840
17LRRK21.76785530
18SIK21.74519950
19KDR1.72667631
20SYK1.68763471
21KIT1.57972833
22MAP3K31.54859999
23CDK121.52086943
24JAK11.51967345
25MAP2K31.51224838
26ITK1.50762207
27TBK11.48746879
28SMG11.40303383
29CSK1.38027823
30HCK1.36490406
31CLK11.33658324
32TXK1.32109387
33IRAK41.31199219
34FES1.30705485
35IKBKE1.30416356
36NEK21.27218767
37LCK1.24566040
38MAP3K11.22744954
39TAOK21.20947206
40MAP3K131.20797404
41FGFR41.20749578
42RPS6KA41.17602016
43MAP3K141.17384839
44MARK31.15337830
45EPHB11.15259663
46FGR1.12595583
47TEC1.11898686
48RIPK41.09194444
49PIM11.03544120
50CDK41.03055072
51PTK61.02198122
52LYN1.01968274
53TTN1.01695054
54IRAK30.94963577
55IKBKB0.94119215
56FGFR30.91341397
57CDC42BPA0.90282797
58FLT30.88184444
59CAMK1D0.82828433
60STK40.81337984
61KSR20.78147489
62SIK10.74887894
63SCYL20.74186101
64PRKCH0.73585931
65MAP3K70.72902432
66TIE10.72605603
67PAK40.71833135
68TNK20.71340515
69NLK0.69859079
70PDPK10.69653388
71TGFBR10.67925357
72JAK20.67569493
73RPS6KB20.67052088
74MAPK120.66927289
75CHUK0.66257927
76CAMK1G0.65327277
77MAP3K80.63623017
78MAPK70.63388660
79BMPR20.62349568
80FYN0.58819121
81PRKD20.58791715
82YES10.58272692
83CDK60.56413501
84IRAK20.56336393
85NME20.56152550
86TRPM70.54717305
87CDK90.54056767
88BRD40.53916648
89MAPK110.52725375
90HIPK20.52486527
91IRAK10.52363060
92PRKCQ0.51423074
93DYRK1B0.51161668
94ALK0.50379825
95MAPKAPK30.49787268
96SIK30.48885216
97MAP3K60.46828827
98CAMKK10.45829132
99MAPK40.45197680
100TESK20.44160164
101CDC70.43309728
102MAPKAPK20.42168682
103PDK10.41897059
104MAP2K60.40984253
105PTK2B0.40349895
106DMPK0.39381342
107ICK0.39299392
108CDK190.39180940
109RIPK10.37923695
110RPS6KA60.37464642
111MAP2K20.37395475
112MELK0.36082671
113BMX0.35784851
114ABL10.35425706
115PRKG20.35116024
116MARK20.34454339
117STK110.34281848
118MAP3K110.34069919
119RPS6KA20.34062365
120PIK3CG0.33569293
121RET0.32243332
122MTOR0.31748681
123MATK0.31546236
124TAOK10.31482873
125MAP3K50.31253879
126TAOK30.30823115
127ATR0.30661440
128PRKD10.30361050
129RPS6KL10.30129612
130RPS6KC10.30129612

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary immunodeficiency_Homo sapiens_hsa053404.30328726
2B cell receptor signaling pathway_Homo sapiens_hsa046623.70779078
3Autoimmune thyroid disease_Homo sapiens_hsa053202.66953119
4Osteoclast differentiation_Homo sapiens_hsa043802.35006081
5Hematopoietic cell lineage_Homo sapiens_hsa046402.28034917
6Leishmaniasis_Homo sapiens_hsa051402.27808953
7NF-kappa B signaling pathway_Homo sapiens_hsa040642.22535951
8Antigen processing and presentation_Homo sapiens_hsa046122.20635155
9Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046662.14708876
10Type I diabetes mellitus_Homo sapiens_hsa049402.05138251
11Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046502.00028649
12Measles_Homo sapiens_hsa051621.98050009
13T cell receptor signaling pathway_Homo sapiens_hsa046601.96842880
14Asthma_Homo sapiens_hsa053101.93391531
15Intestinal immune network for IgA production_Homo sapiens_hsa046721.84856457
16Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.73688657
17Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.73282044
18Chronic myeloid leukemia_Homo sapiens_hsa052201.64872052
19DNA replication_Homo sapiens_hsa030301.61835882
20Herpes simplex infection_Homo sapiens_hsa051681.56572065
21Acute myeloid leukemia_Homo sapiens_hsa052211.55643266
22Toxoplasmosis_Homo sapiens_hsa051451.50671391
23Jak-STAT signaling pathway_Homo sapiens_hsa046301.45793546
24* Leukocyte transendothelial migration_Homo sapiens_hsa046701.45191429
25Platelet activation_Homo sapiens_hsa046111.44238042
26Toll-like receptor signaling pathway_Homo sapiens_hsa046201.42990644
27Chemokine signaling pathway_Homo sapiens_hsa040621.40339357
28Pancreatic cancer_Homo sapiens_hsa052121.37690323
29Staphylococcus aureus infection_Homo sapiens_hsa051501.37266452
30Viral myocarditis_Homo sapiens_hsa054161.36898602
31Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.35653572
32Hepatitis B_Homo sapiens_hsa051611.34338637
33Shigellosis_Homo sapiens_hsa051311.33145679
34Base excision repair_Homo sapiens_hsa034101.31026090
35RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.29354069
36Other glycan degradation_Homo sapiens_hsa005111.24930876
37Influenza A_Homo sapiens_hsa051641.23905796
38Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.23538422
39Apoptosis_Homo sapiens_hsa042101.22880184
40Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.22748988
41Tuberculosis_Homo sapiens_hsa051521.19270279
42Non-small cell lung cancer_Homo sapiens_hsa052231.18832583
43AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.17972810
44Transcriptional misregulation in cancer_Homo sapiens_hsa052021.16607235
45Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.15812272
46Phagosome_Homo sapiens_hsa041451.15786458
47Mismatch repair_Homo sapiens_hsa034301.12939204
48Glycosaminoglycan degradation_Homo sapiens_hsa005311.12541335
49Epstein-Barr virus infection_Homo sapiens_hsa051691.12027501
50HTLV-I infection_Homo sapiens_hsa051661.11810621
51Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.11280257
52Small cell lung cancer_Homo sapiens_hsa052221.07947110
53Rheumatoid arthritis_Homo sapiens_hsa053231.07420722
54NOD-like receptor signaling pathway_Homo sapiens_hsa046211.05982960
55African trypanosomiasis_Homo sapiens_hsa051431.04867412
56Notch signaling pathway_Homo sapiens_hsa043301.04325159
57Pertussis_Homo sapiens_hsa051331.03831352
58Viral carcinogenesis_Homo sapiens_hsa052031.02760664
59VEGF signaling pathway_Homo sapiens_hsa043701.02240008
60Malaria_Homo sapiens_hsa051441.01695092
61Neurotrophin signaling pathway_Homo sapiens_hsa047221.01408893
62Legionellosis_Homo sapiens_hsa051340.95986117
63TNF signaling pathway_Homo sapiens_hsa046680.95394357
64Colorectal cancer_Homo sapiens_hsa052100.94229939
65Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.86632292
66Non-homologous end-joining_Homo sapiens_hsa034500.86538711
67Ribosome_Homo sapiens_hsa030100.84390851
68Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.83905572
69Salmonella infection_Homo sapiens_hsa051320.78830555
70Spliceosome_Homo sapiens_hsa030400.77586516
71Cell cycle_Homo sapiens_hsa041100.72948240
72Lysine degradation_Homo sapiens_hsa003100.72797954
73Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.72678133
74Hepatitis C_Homo sapiens_hsa051600.70265022
75Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.68356314
76p53 signaling pathway_Homo sapiens_hsa041150.67977917
77Insulin resistance_Homo sapiens_hsa049310.67522639
78Prolactin signaling pathway_Homo sapiens_hsa049170.66271439
79Endocytosis_Homo sapiens_hsa041440.65363179
80Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.63620176
81MicroRNAs in cancer_Homo sapiens_hsa052060.61148287
82mTOR signaling pathway_Homo sapiens_hsa041500.60970113
83HIF-1 signaling pathway_Homo sapiens_hsa040660.60701195
84Regulation of actin cytoskeleton_Homo sapiens_hsa048100.59583410
85FoxO signaling pathway_Homo sapiens_hsa040680.58789699
86Proteoglycans in cancer_Homo sapiens_hsa052050.58502387
87Renal cell carcinoma_Homo sapiens_hsa052110.57969828
88Carbohydrate digestion and absorption_Homo sapiens_hsa049730.56847007
89Choline metabolism in cancer_Homo sapiens_hsa052310.55913909
90Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.55352517
91Lysosome_Homo sapiens_hsa041420.53419890
92Focal adhesion_Homo sapiens_hsa045100.52613906
93Phosphatidylinositol signaling system_Homo sapiens_hsa040700.52362550
94Homologous recombination_Homo sapiens_hsa034400.52153193
95Systemic lupus erythematosus_Homo sapiens_hsa053220.51762990
96GnRH signaling pathway_Homo sapiens_hsa049120.50879708
97Inositol phosphate metabolism_Homo sapiens_hsa005620.49239970
98Pathways in cancer_Homo sapiens_hsa052000.49210582
99Amoebiasis_Homo sapiens_hsa051460.48873923
100Thyroid hormone signaling pathway_Homo sapiens_hsa049190.48180330
101Prostate cancer_Homo sapiens_hsa052150.47803813
102Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.46581185
103MAPK signaling pathway_Homo sapiens_hsa040100.45265909
104Graft-versus-host disease_Homo sapiens_hsa053320.45242261
105Glycerophospholipid metabolism_Homo sapiens_hsa005640.44945493
106Endometrial cancer_Homo sapiens_hsa052130.43064411
107Allograft rejection_Homo sapiens_hsa053300.43064405
108Glioma_Homo sapiens_hsa052140.42450984
109Adherens junction_Homo sapiens_hsa045200.40887627
110mRNA surveillance pathway_Homo sapiens_hsa030150.40380282
111SNARE interactions in vesicular transport_Homo sapiens_hsa041300.39831714
112Phospholipase D signaling pathway_Homo sapiens_hsa040720.39498806
113Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.37958268
114Nucleotide excision repair_Homo sapiens_hsa034200.36593048
115Adipocytokine signaling pathway_Homo sapiens_hsa049200.35337140
116Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.33483680
117* Rap1 signaling pathway_Homo sapiens_hsa040150.33121190
118Sphingolipid signaling pathway_Homo sapiens_hsa040710.32501929
119Bladder cancer_Homo sapiens_hsa052190.31691644
120RNA transport_Homo sapiens_hsa030130.31211957
121Dorso-ventral axis formation_Homo sapiens_hsa043200.30086384
122ErbB signaling pathway_Homo sapiens_hsa040120.29870483
123Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.27791138
124Type II diabetes mellitus_Homo sapiens_hsa049300.27492389

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