PSTPIP1

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 cytoskeletal protein that is highly expressed in hemopoietic tissues. This protein functions via its interaction with several different proteins involved in cytoskeletal organization and inflammatory processes. It binds to the cytoplasmic tail of CD2, an effector of T cell activation and adhesion, downregulating CD2-triggered adhesion. It binds PEST-type protein tyrosine phosphatases (PTP) and directs them to c-Abl kinase to mediate c-Abl dephosphorylation, thereby, regulating c-Abl activity. It also interacts with pyrin, which is found in association with the cytoskeleton in myeloid/monocytic cells and modulates immunoregulatory functions. Mutations in this gene are associated with PAPA (pyogenic sterile arthritis, pyoderma gangrenosum, and acne) syndrome. It is hypothesized that the disease-causing mutations compromise physiologic signaling necessary for the maintenance of a proper inflammatory response. 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)5.75173697
2antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)5.68289818
3antigen processing and presentation of endogenous peptide antigen (GO:0002483)5.68289818
4antigen processing and presentation of endogenous antigen (GO:0019883)5.04330619
5antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.84508221
6leukocyte aggregation (GO:0070486)4.75180866
7detection of other organism (GO:0098543)4.74112523
8detection of bacterium (GO:0016045)4.64447492
9positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)4.56933274
10regulation of B cell receptor signaling pathway (GO:0050855)4.52784417
11macrophage activation involved in immune response (GO:0002281)4.32795106
12regulation of gamma-delta T cell differentiation (GO:0045586)4.29410572
13negative regulation of lymphocyte mediated immunity (GO:0002707)4.29263402
14negative regulation of cell killing (GO:0031342)4.21980962
15negative regulation of leukocyte mediated cytotoxicity (GO:0001911)4.21980962
16regulation of gamma-delta T cell activation (GO:0046643)4.11924971
17Arp2/3 complex-mediated actin nucleation (GO:0034314)3.95825291
18neutrophil activation involved in immune response (GO:0002283)3.95424875
19negative regulation of T cell mediated immunity (GO:0002710)3.93444632
20detection of external biotic stimulus (GO:0098581)3.93099499
21positive regulation of B cell differentiation (GO:0045579)3.91339445
22respiratory burst (GO:0045730)3.87265159
23immunoglobulin mediated immune response (GO:0016064)3.84889702
24negative regulation of leukocyte mediated immunity (GO:0002704)3.84576381
25regulation of antigen processing and presentation of peptide antigen (GO:0002583)3.82380400
26regulation of B cell differentiation (GO:0045577)3.82108910
27mast cell activation (GO:0045576)3.79463031
28T cell migration (GO:0072678)3.75466474
29antigen processing and presentation via MHC class Ib (GO:0002475)3.72458587
30activated T cell proliferation (GO:0050798)3.68999050
31negative T cell selection (GO:0043383)3.68426657
32regulation of T cell tolerance induction (GO:0002664)3.64357721
33microglial cell activation (GO:0001774)3.63151516
34regulation of mast cell degranulation (GO:0043304)3.62376551
35negative regulation of phagocytosis (GO:0050765)3.61952472
36leukocyte migration involved in inflammatory response (GO:0002523)3.61646018
37negative thymic T cell selection (GO:0045060)3.61617464
38negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)3.60787779
39B cell receptor signaling pathway (GO:0050853)3.58310422
40detection of molecule of bacterial origin (GO:0032490)3.51469661
41regulation of tolerance induction (GO:0002643)3.47461393
42detection of biotic stimulus (GO:0009595)3.47305639
43positive thymic T cell selection (GO:0045059)3.46565157
44interferon-gamma production (GO:0032609)3.45299906
45response to host immune response (GO:0052572)3.45139214
46response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.45139214
47response to interleukin-15 (GO:0070672)3.43956153
48ribosomal small subunit assembly (GO:0000028)3.43748590
49response to peptidoglycan (GO:0032494)3.38524781
50regulation of interferon-beta biosynthetic process (GO:0045357)3.38030592
51neutrophil mediated immunity (GO:0002446)3.36881865
52regulation of mast cell activation involved in immune response (GO:0033006)3.33660949
53regulation of myeloid leukocyte mediated immunity (GO:0002886)3.33579188
54cellular extravasation (GO:0045123)3.31465222
55regulation of mast cell activation (GO:0033003)3.30038483
56macrophage activation (GO:0042116)3.29333774
57positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)3.28939794
58regulation of natural killer cell mediated cytotoxicity (GO:0042269)3.28859666
59regulation of natural killer cell mediated immunity (GO:0002715)3.28859666
60defense response to protozoan (GO:0042832)3.28678132
61response to protozoan (GO:0001562)3.26066038
62regulation of antigen receptor-mediated signaling pathway (GO:0050854)3.23942849
63neutrophil activation (GO:0042119)3.21487465
64regulation of leukocyte degranulation (GO:0043300)3.18524463
65response to type I interferon (GO:0034340)3.17628071
66regulation of T cell mediated cytotoxicity (GO:0001914)3.14739299
67type I interferon signaling pathway (GO:0060337)3.14669411
68cellular response to type I interferon (GO:0071357)3.14669411
69NIK/NF-kappaB signaling (GO:0038061)3.14169939
70negative regulation of innate immune response (GO:0045824)3.13937567
71B cell mediated immunity (GO:0019724)3.11910050
72response to host (GO:0075136)3.11762714
73response to host defenses (GO:0052200)3.11762714
74response to defenses of other organism involved in symbiotic interaction (GO:0052173)3.11762714
75regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)3.11553317
76myeloid dendritic cell activation (GO:0001773)3.11278942
77T cell homeostasis (GO:0043029)3.11062791
78regulation of regulatory T cell differentiation (GO:0045589)3.10967008
79negative regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043371)3.08626297
80negative regulation of T-helper cell differentiation (GO:0045623)3.08626297
81regulation of dendritic cell antigen processing and presentation (GO:0002604)3.08609022
82positive regulation of mast cell activation involved in immune response (GO:0033008)3.05949691
83positive regulation of mast cell degranulation (GO:0043306)3.05949691
84regulation of interleukin-12 biosynthetic process (GO:0045075)3.05124642
85positive regulation of interleukin-2 biosynthetic process (GO:0045086)3.04675330
86positive regulation by organism of defense response of other organism involved in symbiotic interact3.02943771
87modulation by symbiont of host immune response (GO:0052553)3.02943771
88positive regulation by symbiont of host defense response (GO:0052509)3.02943771
89modulation by symbiont of host defense response (GO:0052031)3.02943771
90modulation by organism of immune response of other organism involved in symbiotic interaction (GO:003.02943771
91modulation by organism of defense response of other organism involved in symbiotic interaction (GO:03.02943771
92positive regulation of T cell mediated cytotoxicity (GO:0001916)3.02145795
93response to muramyl dipeptide (GO:0032495)3.01716964
94leukocyte cell-cell adhesion (GO:0007159)3.01631258
95positive regulation of tolerance induction (GO:0002645)2.99886960
96myeloid cell activation involved in immune response (GO:0002275)2.99348750
97thymic T cell selection (GO:0045061)2.99130166
98tolerance induction (GO:0002507)2.98974071
99granulocyte activation (GO:0036230)2.98895453
100actin nucleation (GO:0045010)2.98366911
101negative regulation of alpha-beta T cell activation (GO:0046636)2.98299991
102positive regulation of antigen processing and presentation (GO:0002579)2.98160372
103production of molecular mediator involved in inflammatory response (GO:0002532)2.98156606
104negative regulation of interleukin-12 production (GO:0032695)2.98124540
105positive regulation of interferon-alpha production (GO:0032727)2.97021660
106interferon-gamma-mediated signaling pathway (GO:0060333)2.96279692
107regulation of type I interferon-mediated signaling pathway (GO:0060338)2.93996044
108cellular response to interleukin-15 (GO:0071350)2.93757864
109regulation of T cell receptor signaling pathway (GO:0050856)2.92343359
110leukocyte degranulation (GO:0043299)2.90222598
111antigen receptor-mediated signaling pathway (GO:0050851)2.88419375
112mast cell degranulation (GO:0043303)2.88165957
113mast cell activation involved in immune response (GO:0002279)2.88165957
114T cell selection (GO:0045058)2.88016998
115positive regulation of isotype switching (GO:0045830)2.85240596
116positive T cell selection (GO:0043368)2.84801296
117lymphocyte homeostasis (GO:0002260)2.84604322
118cellular response to zinc ion (GO:0071294)2.84121414
119regulation of interferon-alpha production (GO:0032647)2.83996426
120regulation of alpha-beta T cell proliferation (GO:0046640)2.82075099
121positive regulation of type I interferon-mediated signaling pathway (GO:0060340)2.79276941
122response to fungus (GO:0009620)2.77277378
123myeloid dendritic cell differentiation (GO:0043011)2.75134809
124viral transcription (GO:0019083)2.74961427
125response to interferon-beta (GO:0035456)2.73752669
126cellular response to interferon-beta (GO:0035458)2.73213541
127mature B cell differentiation (GO:0002335)2.72377994
128negative regulation of erythrocyte differentiation (GO:0045647)2.72228374
129pinocytosis (GO:0006907)2.70395092
130T cell receptor signaling pathway (GO:0050852)2.67928823
131myeloid leukocyte mediated immunity (GO:0002444)2.67433130
132regulation of response to interferon-gamma (GO:0060330)2.65587245
133positive regulation of macrophage differentiation (GO:0045651)2.65441259
134positive regulation of alpha-beta T cell proliferation (GO:0046641)2.63407299
135negative regulation of antigen receptor-mediated signaling pathway (GO:0050858)2.63317962
136megakaryocyte development (GO:0035855)2.61706087
137leukocyte homeostasis (GO:0001776)2.61480805
138positive regulation of mast cell activation (GO:0033005)2.59827263
139regulation of interferon-gamma-mediated signaling pathway (GO:0060334)2.59692675
140translational termination (GO:0006415)2.59229693
141regulation of antigen processing and presentation (GO:0002577)2.58602779

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human4.63053176
2IRF8_22096565_ChIP-ChIP_GC-B_Human4.20262194
3IRF8_21731497_ChIP-ChIP_J774_Mouse3.84829108
4STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.74037967
5BP1_19119308_ChIP-ChIP_Hs578T_Human3.72288270
6FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.69491505
7* MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.64652811
8IRF8_22096565_ChIP-ChIP_GC-B_Mouse3.35979861
9MYB_21317192_ChIP-Seq_ERMYB_Mouse2.97620433
10SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.93499850
11MYC_22102868_ChIP-Seq_BL_Human2.84136836
12EGR1_19374776_ChIP-ChIP_THP-1_Human2.79836431
13* SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.74333181
14SCL_19346495_ChIP-Seq_HPC-7_Human2.72501345
15* VDR_21846776_ChIP-Seq_THP-1_Human2.72418715
16IRF8_27001747_Chip-Seq_BMDM_Mouse2.67195867
17* RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.63534064
18STAT4_19710469_ChIP-ChIP_TH1__Mouse2.63504369
19SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.62218150
20NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.61478113
21IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.58702999
22STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.52083386
23* MYB_26560356_Chip-Seq_TH2_Human2.49765964
24* SPI1_23547873_ChIP-Seq_NB4_Human2.47709206
25MAF_26560356_Chip-Seq_TH1_Human2.32111801
26* FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse2.23167375
27VDR_24763502_ChIP-Seq_THP-1_Human2.19225450
28FLI1_20887958_ChIP-Seq_HPC-7_Mouse2.18364051
29BRD4_27068464_Chip-Seq_AML-cells_Mouse2.18060167
30ASXL1_24218140_ChIP-Seq_BMDM_Mouse2.15657249
31MYB_26560356_Chip-Seq_TH1_Human2.14403012
32RUNX1_22412390_ChIP-Seq_EML_Mouse2.13774164
33RUNX_20019798_ChIP-Seq_JUKART_Human2.09674772
34UTX_26944678_Chip-Seq_JUKART_Human2.07641323
35EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.01078529
36NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.96719093
37ELF1_17652178_ChIP-ChIP_JURKAT_Human1.95019487
38* TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.89910624
39* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.82988510
40* MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.80730064
41* TCF7_22412390_ChIP-Seq_EML_Mouse1.75784052
42VDR_24787735_ChIP-Seq_THP-1_Human1.73161294
43FOXM1_23109430_ChIP-Seq_U2OS_Human1.73016788
44NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.66095391
45E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.65408131
46SPI1_23127762_ChIP-Seq_K562_Human1.65394268
47MAF_26560356_Chip-Seq_TH2_Human1.56068366
48* ERG_20887958_ChIP-Seq_HPC-7_Mouse1.51359903
49GATA2_22383799_ChIP-Seq_G1ME_Mouse1.47982301
50E2F4_17652178_ChIP-ChIP_JURKAT_Human1.46013868
51GATA3_27048872_Chip-Seq_THYMUS_Human1.45967994
52* LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.44718398
53NOTCH1_21737748_ChIP-Seq_TLL_Human1.43679431
54PU_27001747_Chip-Seq_BMDM_Mouse1.43459689
55HOXB4_20404135_ChIP-ChIP_EML_Mouse1.42198131
56GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.40392230
57CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.37178688
58CIITA_25753668_ChIP-Seq_RAJI_Human1.36391871
59RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.35331578
60SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.35239837
61GATA1_22383799_ChIP-Seq_G1ME_Mouse1.34287283
62KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.33855412
63CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.32405939
64LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.30771640
65* Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.29597673
66KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.28171430
67THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.26687899
68CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.26497155
69GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.24725387
70BCL6_27268052_Chip-Seq_Bcells_Human1.24713086
71SMAD_19615063_ChIP-ChIP_OVARY_Human1.23983385
72VDR_23849224_ChIP-Seq_CD4+_Human1.23303013
73IKZF1_21737484_ChIP-ChIP_HCT116_Human1.22588674
74PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.18512379
75GATA1_19941826_ChIP-Seq_K562_Human1.16564407
76GATA1_22025678_ChIP-Seq_K562_Human1.15609703
77STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.14741059
78GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.14560359
79VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.13421335
80SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.13214870
81BCOR_27268052_Chip-Seq_Bcells_Human1.12699579
82* ELK3_25401928_ChIP-Seq_HUVEC_Human1.12698828
83TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.12357461
84KDM2B_26808549_Chip-Seq_DND41_Human1.12320283
85PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.12001229
86* LXR_22292898_ChIP-Seq_THP-1_Human1.11244967
87PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.11205219
88GATA3_26560356_Chip-Seq_TH2_Human1.10800636
89FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.09972876
90SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.09409970
91FOXP3_21729870_ChIP-Seq_TREG_Human1.08698629
92CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.08099740
93MYC_18555785_ChIP-Seq_MESCs_Mouse1.07915809
94KDM2B_26808549_Chip-Seq_JURKAT_Human1.07400884
95GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.06931185
96TFEB_21752829_ChIP-Seq_HELA_Human1.05449014
97PU.1_20513432_ChIP-Seq_Bcells_Mouse1.04958292
98CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.03803338
99* FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse0.97644821
100GABP_17652178_ChIP-ChIP_JURKAT_Human0.97286029
101* KDM2B_26808549_Chip-Seq_SUP-B15_Human0.96417702
102TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.95814771
103GATA1_19941827_ChIP-Seq_MEL_Mouse0.95171984
104STAT6_21828071_ChIP-Seq_BEAS2B_Human0.91305936
105E2F1_21310950_ChIP-Seq_MCF-7_Human0.91187185
106EST1_17652178_ChIP-ChIP_JURKAT_Human0.90899781
107PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.90809987
108ELK1_19687146_ChIP-ChIP_HELA_Human0.90085528
109SPI1_20517297_ChIP-Seq_HL60_Human0.89741400
110VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.88543794
111RUNX1_17652178_ChIP-ChIP_JURKAT_Human0.88018583
112FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.86810188
113ELF1_20517297_ChIP-Seq_JURKAT_Human0.86583607
114NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.85349192
115GATA2_19941826_ChIP-Seq_K562_Human0.85268443
116XRN2_22483619_ChIP-Seq_HELA_Human0.84004975
117GATA2_21666600_ChIP-Seq_HMVEC_Human0.82850032
118NCOR1_26117541_ChIP-Seq_K562_Human0.81861907
119RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human0.81574061
120ETS1_22383799_ChIP-Seq_G1ME_Mouse0.80994757
121MYC_18358816_ChIP-ChIP_MESCs_Mouse0.80674726
122RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.78802666

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001835_abnormal_antigen_presentation4.00280316
2MP0003436_decreased_susceptibility_to3.26306007
3MP0000685_abnormal_immune_system3.24106818
4MP0005671_abnormal_response_to3.20160710
5MP0009785_altered_susceptibility_to3.19166948
6MP0003763_abnormal_thymus_physiology3.02930669
7MP0001800_abnormal_humoral_immune2.98330110
8MP0002396_abnormal_hematopoietic_system2.90295346
9MP0005000_abnormal_immune_tolerance2.84826525
10MP0005025_abnormal_response_to2.79500867
11MP0002419_abnormal_innate_immunity2.75430593
12MP0003303_peritoneal_inflammation2.74494953
13MP0002452_abnormal_antigen_presenting2.74020196
14MP0001790_abnormal_immune_system2.72831422
15MP0005387_immune_system_phenotype2.72831422
16MP0002420_abnormal_adaptive_immunity2.69454013
17MP0001819_abnormal_immune_cell2.67138925
18MP0002723_abnormal_immune_serum2.67023368
19MP0002148_abnormal_hypersensitivity_rea2.54345029
20MP0002166_altered_tumor_susceptibility2.49760282
21MP0002398_abnormal_bone_marrow2.47337746
22MP0005464_abnormal_platelet_physiology2.40863816
23MP0002405_respiratory_system_inflammati2.23835571
24MP0000716_abnormal_immune_system2.22820741
25MP0009333_abnormal_splenocyte_physiolog2.19662605
26MP0002006_tumorigenesis2.10692843
27MP0000689_abnormal_spleen_morphology2.08988528
28MP0001873_stomach_inflammation2.04637616
29MP0002722_abnormal_immune_system2.03465040
30MP0004808_abnormal_hematopoietic_stem2.03445252
31MP0003724_increased_susceptibility_to1.99992641
32MP0006082_CNS_inflammation1.98270048
33MP0005397_hematopoietic_system_phenotyp1.97655948
34MP0001545_abnormal_hematopoietic_system1.97655948
35MP0010155_abnormal_intestine_physiology1.97505502
36MP0002429_abnormal_blood_cell1.91391814
37MP0005174_abnormal_tail_pigmentation1.88083351
38MP0009278_abnormal_bone_marrow1.87652063
39MP0001845_abnormal_inflammatory_respons1.83185129
40MP0001853_heart_inflammation1.78593129
41MP0000703_abnormal_thymus_morphology1.77915190
42MP0004947_skin_inflammation1.75447059
43MP0003300_gastrointestinal_ulcer1.74251347
44MP0000465_gastrointestinal_hemorrhage1.70697338
45MP0004510_myositis1.62240455
46MP0008260_abnormal_autophagy1.58763966
47MP0001533_abnormal_skeleton_physiology1.58549782
48MP0005058_abnormal_lysosome_morphology1.57507848
49MP0000858_altered_metastatic_potential1.57472650
50MP0002933_joint_inflammation1.54351111
51MP0003172_abnormal_lysosome_physiology1.53265318
52MP0003866_abnormal_defecation1.49446218
53MP0000490_abnormal_crypts_of1.48737146
54MP0003448_altered_tumor_morphology1.39920842
55MP0008469_abnormal_protein_level1.36721957
56MP0002277_abnormal_respiratory_mucosa1.35216195
57MP0003693_abnormal_embryo_hatching1.27153422
58MP0005075_abnormal_melanosome_morpholog1.21604660
59MP0000015_abnormal_ear_pigmentation1.18707981
60MP0004883_abnormal_blood_vessel1.18176961
61MP0005310_abnormal_salivary_gland1.18102816
62MP0003183_abnormal_peptide_metabolism1.17698393
63MP0000343_altered_response_to1.15791826
64MP0010352_gastrointestinal_tract_polyps1.12404272
65MP0002019_abnormal_tumor_incidence1.12011248
66MP0005451_abnormal_body_composition1.07528435
67MP0001851_eye_inflammation1.06968890
68MP0010307_abnormal_tumor_latency1.06792555
69MP0000569_abnormal_digit_pigmentation1.01200048
70MP0010094_abnormal_chromosome_stability0.99950608
71MP0003077_abnormal_cell_cycle0.96368164
72MP0003690_abnormal_glial_cell0.95316447
73MP0003806_abnormal_nucleotide_metabolis0.93127704
74MP0002095_abnormal_skin_pigmentation0.91662758
75MP0002138_abnormal_hepatobiliary_system0.89478707
76MP0002998_abnormal_bone_remodeling0.88452440
77MP0005164_abnormal_response_to0.88100577
78MP0000604_amyloidosis0.88093219
79MP0003191_abnormal_cellular_cholesterol0.87818433
80MP0009764_decreased_sensitivity_to0.87659187
81MP0008057_abnormal_DNA_replication0.83648156
82MP0003045_fibrosis0.78179399
83MP0003111_abnormal_nucleus_morphology0.77593493
84MP0002132_abnormal_respiratory_system0.75119179
85MP0009763_increased_sensitivity_to0.75050205
86MP0001663_abnormal_digestive_system0.75003291
87MP0005023_abnormal_wound_healing0.74823717
88MP0003828_pulmonary_edema0.73150630
89MP0003566_abnormal_cell_adhesion0.71853460
90MP0008007_abnormal_cellular_replicative0.71038303
91MP0000371_diluted_coat_color0.69659362
92MP0005166_decreased_susceptibility_to0.69031789
93MP0005390_skeleton_phenotype0.67883966
94MP0006054_spinal_hemorrhage0.67740826
95MP0003656_abnormal_erythrocyte_physiolo0.67711507
96MP0004957_abnormal_blastocyst_morpholog0.67113903
97MP0005076_abnormal_cell_differentiation0.64450924
98MP0000313_abnormal_cell_death0.63932761
99MP0004130_abnormal_muscle_cell0.63411183
100MP0003795_abnormal_bone_structure0.63175354
101MP0008004_abnormal_stomach_pH0.62707194
102MP0002009_preneoplasia0.61604196
103MP0003075_altered_response_to0.60635715
104MP0001986_abnormal_taste_sensitivity0.59913031
105MP0008874_decreased_physiological_sensi0.58043432
106MP0008058_abnormal_DNA_repair0.57312084
107MP0004381_abnormal_hair_follicle0.56307431
108MP0002693_abnormal_pancreas_physiology0.55717120
109MP0000249_abnormal_blood_vessel0.53726595
110MP0005083_abnormal_biliary_tract0.53270116
111MP0008873_increased_physiological_sensi0.52334484
112MP0009765_abnormal_xenobiotic_induced0.51866928
113MP0005319_abnormal_enzyme/_coenzyme0.51532254
114MP0005621_abnormal_cell_physiology0.49741278
115MP0009840_abnormal_foam_cell0.47790668
116MP0000350_abnormal_cell_proliferation0.47777125
117MP0005381_digestive/alimentary_phenotyp0.43127448
118MP0000920_abnormal_myelination0.42331310
119MP0005376_homeostasis/metabolism_phenot0.39908310

Predicted human phenotypes

RankGene SetZ-score
1Eczematoid dermatitis (HP:0000976)5.65255401
2* Recurrent abscess formation (HP:0002722)5.48964872
3Elevated erythrocyte sedimentation rate (HP:0003565)5.06524284
4* Recurrent bacterial skin infections (HP:0005406)4.60419290
5Recurrent fungal infections (HP:0002841)4.28414831
6Chronic otitis media (HP:0000389)4.24824352
7* Myositis (HP:0100614)4.14406567
8Chronic obstructive pulmonary disease (HP:0006510)4.06999991
9Obstructive lung disease (HP:0006536)4.06999991
10Gastrointestinal infarctions (HP:0005244)4.06429718
11Thrombocytosis (HP:0001894)4.05140097
12IgM deficiency (HP:0002850)4.01805040
13Recurrent viral infections (HP:0004429)3.94697915
14Recurrent gram-negative bacterial infections (HP:0005420)3.93973553
15Mediastinal lymphadenopathy (HP:0100721)3.87966775
16Abnormality of macrophages (HP:0004311)3.76163577
17Meningitis (HP:0001287)3.70309295
18Stomatitis (HP:0010280)3.57716821
19T lymphocytopenia (HP:0005403)3.53840126
20Abnormal delayed hypersensitivity skin test (HP:0002963)3.49617564
21Spontaneous hematomas (HP:0007420)3.41847417
22Recurrent bronchitis (HP:0002837)3.41151353
23Abnormality of T cell number (HP:0011839)3.40981811
24Abnormality of T cells (HP:0002843)3.38253163
25Nasal polyposis (HP:0100582)3.37520222
26* Recurrent skin infections (HP:0001581)3.34987532
27Orchitis (HP:0100796)3.34812275
28Chronic mucocutaneous candidiasis (HP:0002728)3.29145056
29Recurrent cutaneous fungal infections (HP:0011370)3.29145056
30Retrobulbar optic neuritis (HP:0100654)3.26031797
31Optic neuritis (HP:0100653)3.26031797
32Panhypogammaglobulinemia (HP:0003139)3.25663508
33Hypochromic microcytic anemia (HP:0004840)3.20965016
34Cellulitis (HP:0100658)3.17563798
35Vasculitis (HP:0002633)3.09326574
36Hypochromic anemia (HP:0001931)3.07925522
37Abnormality of the nasal mucosa (HP:0000433)3.06769945
38Abnormality of T cell physiology (HP:0011840)3.05441526
39Petechiae (HP:0000967)3.03613828
40Gingivitis (HP:0000230)2.98204793
41Increased IgM level (HP:0003496)2.94774902
42Inflammation of the large intestine (HP:0002037)2.92765003
43Prolonged bleeding time (HP:0003010)2.90701527
44Gastrointestinal inflammation (HP:0004386)2.86813939
45Vacuolated lymphocytes (HP:0001922)2.85690551
46Autoimmune thrombocytopenia (HP:0001973)2.85512262
47Episodic fever (HP:0001954)2.85426396
48Anorexia (HP:0002039)2.82370943
49Epistaxis (HP:0000421)2.76609673
50Eosinophilia (HP:0001880)2.76554118
51Hemoptysis (HP:0002105)2.72866270
52B lymphocytopenia (HP:0010976)2.72293916
53Abnormality of B cell number (HP:0010975)2.72293916
54Increased IgE level (HP:0003212)2.70514478
55Leukocytosis (HP:0001974)2.70411719
56Periodontitis (HP:0000704)2.69353147
57Chest pain (HP:0100749)2.65317380
58Encephalitis (HP:0002383)2.63572209
59Interstitial pulmonary disease (HP:0006530)2.62594807
60Lymphopenia (HP:0001888)2.62522397
61Arterial thrombosis (HP:0004420)2.59087070
62Abnormality of cells of the lymphoid lineage (HP:0012140)2.56966220
63Granulocytopenia (HP:0001913)2.56086396
64Abnormality of glycosphingolipid metabolism (HP:0004343)2.55555051
65Abnormality of glycolipid metabolism (HP:0010969)2.55555051
66Abnormality of liposaccharide metabolism (HP:0010968)2.55555051
67IgG deficiency (HP:0004315)2.53097342
68Thyroiditis (HP:0100646)2.52129727
69Pulmonary infiltrates (HP:0002113)2.51443422
70Gingival bleeding (HP:0000225)2.50293570
71Microcytic anemia (HP:0001935)2.46051329
72Abnormality of eosinophils (HP:0001879)2.44356170
73Hypergammaglobulinemia (HP:0010702)2.41955917
74Amyloidosis (HP:0011034)2.40339399
75Severe combined immunodeficiency (HP:0004430)2.39679789
76Abnormality of the fingertips (HP:0001211)2.38797580
77Osteomyelitis (HP:0002754)2.38271186
78Keratoconjunctivitis sicca (HP:0001097)2.37736825
79Abnormality of the pleura (HP:0002103)2.34582624
80Combined immunodeficiency (HP:0005387)2.34396521
81Increased cerebral lipofuscin (HP:0011813)2.32101864
82Loss of speech (HP:0002371)2.30615410
83Urticaria (HP:0001025)2.30050742
84Abnormality of the prostate (HP:0008775)2.28930478
85Colitis (HP:0002583)2.26579300
86Gangrene (HP:0100758)2.26231706
87Abnormal platelet function (HP:0011869)2.26139111
88Impaired platelet aggregation (HP:0003540)2.26139111
89Lymphoma (HP:0002665)2.25892996
90Purpura (HP:0000979)2.25816503
91Agammaglobulinemia (HP:0004432)2.24925302
92Peritonitis (HP:0002586)2.22007042
93Thoracic kyphosis (HP:0002942)2.21103780
94Increased serum ferritin (HP:0003281)2.20128356
95Hematochezia (HP:0002573)2.19229288
96Increased neuronal autofluorescent lipopigment (HP:0002074)2.18964784
97Keratoconjunctivitis (HP:0001096)2.18068095
98Autoimmune hemolytic anemia (HP:0001890)2.15797122
99Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.11993365
100Hepatosplenomegaly (HP:0001433)2.11049493
101Recurrent pneumonia (HP:0006532)2.10265570
102* Skin ulcer (HP:0200042)2.09027201
103Abnormal platelet volume (HP:0011876)2.07562532
104Basal ganglia calcification (HP:0002135)2.05704252
105Abnormality of iron homeostasis (HP:0011031)2.05167360
106Recurrent sinusitis (HP:0011108)2.04809310
107Reticulocytopenia (HP:0001896)2.04756006
108Sepsis (HP:0100806)2.04141452
109Glomerulopathy (HP:0100820)2.03858341
110Premature loss of primary teeth (HP:0006323)2.00493724
111Chronic sinusitis (HP:0011109)1.99353050
112Polyneuropathy (HP:0001271)1.99328523
113Abnormality of the peritoneum (HP:0002585)1.99246631
114Amaurosis fugax (HP:0100576)1.99194427
115* Pustule (HP:0200039)1.98708411
116Agnosia (HP:0010524)1.97560044
117Pulmonary embolism (HP:0002204)1.96209516
118Recurrent lower respiratory tract infections (HP:0002783)1.95859519
119Aplastic anemia (HP:0001915)1.95328177
120Chronic diarrhea (HP:0002028)1.94632247
121Emphysema (HP:0002097)1.93656457
122Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)1.93460825
123Vertigo (HP:0002321)1.93425776
124Acute hepatic failure (HP:0006554)1.93138578
125Keratitis (HP:0000491)1.92829749
126Abnormality of the endocardium (HP:0004306)1.92700219
127Dysostosis multiplex (HP:0000943)1.92131726
128Acute myeloid leukemia (HP:0004808)1.89944429
129Abnormality of the thoracic spine (HP:0100711)1.89463532
130Gastrointestinal stroma tumor (HP:0100723)1.89226502
131Slow saccadic eye movements (HP:0000514)1.88852314
132Joint swelling (HP:0001386)1.88301612

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP4K14.78461425
2TXK3.09322570
3IRAK42.86485764
4KIT2.78154298
5BLK2.69348689
6JAK32.50532149
7ZAP702.48685790
8TYK22.40739705
9TBK12.37767879
10NME22.33375910
11BTK2.32031987
12TEC2.30331236
13EEF2K2.12587020
14PRPF4B2.02717752
15IKBKE2.00213040
16ITK1.94066293
17STK101.93744071
18RIPK41.89359833
19CSF1R1.89073184
20MAP3K141.88967226
21SYK1.84873955
22GRK61.78471615
23FES1.75438183
24FLT31.69206324
25MAP3K31.66900979
26HCK1.55355090
27MAP2K31.55112359
28CSK1.48873291
29* LCK1.47909287
30PKN21.45672610
31TAOK31.40534628
32IKBKB1.38002878
33JAK11.37533356
34IRAK31.34823423
35LRRK21.33771849
36EPHB11.26993938
37ERN11.22610048
38PIM11.19429282
39CLK11.18094816
40NLK1.16498826
41LYN1.14767579
42TRIB31.11404555
43TESK21.11328008
44CAMKK21.10882666
45MAP3K101.09638565
46PIM21.05834730
47FGFR41.02476032
48TRPM71.00375873
49MAP3K130.99390056
50MAP3K10.97522448
51RPS6KA40.94714018
52TGFBR20.91789631
53SIK20.91054425
54BMPR20.90367447
55MARK20.89047190
56KDR0.85819689
57FGFR30.85353615
58MARK30.82268306
59SCYL20.79306225
60TAOK20.76738065
61IRAK10.76331244
62JAK20.74530850
63KSR20.74167733
64STK40.72743780
65MAPK120.71457200
66MAP3K120.71412377
67CDK190.69704506
68CDK40.68336233
69CAMKK10.67915997
70PRKD20.67215648
71NEK20.66971854
72MAP3K70.66472622
73TTN0.65355554
74GRK70.63317257
75FYN0.63266022
76TNK20.62964755
77PDPK10.60529454
78CHUK0.60458621
79RPS6KB20.58790645
80MATK0.58665202
81PIK3CG0.58577814
82HIPK20.56906059
83MAPK70.56784226
84MST40.55014595
85PAK40.54611867
86CDC42BPA0.54313465
87STK110.53820187
88ADRBK20.53462738
89MAP3K110.52629094
90IRAK20.51846409
91PTK2B0.50371084
92MAPK40.50368411
93CDK120.50275286
94MAP3K60.49679305
95RPS6KA60.48418780
96TGFBR10.47164682
97CDC70.46098661
98CDK60.45431869
99ACVR1B0.45393742
100ATR0.45359549
101SMG10.43942165
102DYRK1B0.43877994
103PTK60.43606603
104PRKCQ0.42856787
105WEE10.42815898
106MAP3K80.42761934
107EPHA30.42400906
108MAP3K50.41601855
109EIF2AK30.41225801
110TAOK10.40391438
111MAP2K60.38579320
112ALK0.38442503
113BRSK20.38032445
114RPS6KC10.37291686
115RPS6KL10.37291686
116NEK90.36852377
117DAPK20.36834155
118MAPKAPK30.36057901
119MAPK110.35716242
120PDK10.35412525
121PRKCD0.35012447
122ILK0.34622913
123PRKG20.34056412
124SGK30.33721254
125MAPKAPK20.33098771
126MAP2K20.33013621
127MAP2K40.31959515
128FGR0.31799650
129STK240.30336083
130YES10.29564724
131SIK30.29462437
132CAMK40.28359646
133PRKCH0.27649194
134RET0.27182318
135SGK20.26990631
136SIK10.26791326
137STK380.26122531

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary immunodeficiency_Homo sapiens_hsa053403.28668455
2Leishmaniasis_Homo sapiens_hsa051402.85224638
3Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046502.33734860
4Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.32644906
5Measles_Homo sapiens_hsa051622.32161276
6NF-kappa B signaling pathway_Homo sapiens_hsa040642.29545261
7Osteoclast differentiation_Homo sapiens_hsa043802.28007472
8Antigen processing and presentation_Homo sapiens_hsa046122.21729636
9B cell receptor signaling pathway_Homo sapiens_hsa046622.19203954
10DNA replication_Homo sapiens_hsa030302.07374224
11Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.05501334
12Intestinal immune network for IgA production_Homo sapiens_hsa046722.01088968
13RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.98152430
14Hematopoietic cell lineage_Homo sapiens_hsa046401.97560066
15T cell receptor signaling pathway_Homo sapiens_hsa046601.90765118
16Toll-like receptor signaling pathway_Homo sapiens_hsa046201.89577226
17Ribosome_Homo sapiens_hsa030101.80329224
18Allograft rejection_Homo sapiens_hsa053301.77009863
19Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.75033381
20Herpes simplex infection_Homo sapiens_hsa051681.72016869
21Graft-versus-host disease_Homo sapiens_hsa053321.65528143
22Jak-STAT signaling pathway_Homo sapiens_hsa046301.62897866
23Staphylococcus aureus infection_Homo sapiens_hsa051501.51599735
24Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.49855204
25Legionellosis_Homo sapiens_hsa051341.49702305
26Tuberculosis_Homo sapiens_hsa051521.48742249
27Shigellosis_Homo sapiens_hsa051311.48455402
28* NOD-like receptor signaling pathway_Homo sapiens_hsa046211.45027400
29Pertussis_Homo sapiens_hsa051331.42818525
30Influenza A_Homo sapiens_hsa051641.42583579
31Mismatch repair_Homo sapiens_hsa034301.42266535
32Toxoplasmosis_Homo sapiens_hsa051451.38774622
33Leukocyte transendothelial migration_Homo sapiens_hsa046701.37847240
34Acute myeloid leukemia_Homo sapiens_hsa052211.37655679
35Other glycan degradation_Homo sapiens_hsa005111.34610876
36Chemokine signaling pathway_Homo sapiens_hsa040621.33277611
37Hepatitis B_Homo sapiens_hsa051611.33242398
38Apoptosis_Homo sapiens_hsa042101.28195319
39Malaria_Homo sapiens_hsa051441.28086612
40Asthma_Homo sapiens_hsa053101.25071190
41Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.24140707
42Base excision repair_Homo sapiens_hsa034101.23767340
43Viral myocarditis_Homo sapiens_hsa054161.21520633
44TNF signaling pathway_Homo sapiens_hsa046681.16524565
45Salmonella infection_Homo sapiens_hsa051321.14329432
46Glycosaminoglycan degradation_Homo sapiens_hsa005311.10161169
47Non-homologous end-joining_Homo sapiens_hsa034501.08920722
48Homologous recombination_Homo sapiens_hsa034401.08157963
49Platelet activation_Homo sapiens_hsa046111.07232688
50Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.05705963
51Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.03429346
52Chronic myeloid leukemia_Homo sapiens_hsa052201.02630086
53Epstein-Barr virus infection_Homo sapiens_hsa051691.01506785
54Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.00269441
55Transcriptional misregulation in cancer_Homo sapiens_hsa052020.97340712
56Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.96508840
57Pancreatic cancer_Homo sapiens_hsa052120.94814240
58Lysosome_Homo sapiens_hsa041420.94542164
59Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.91322067
60Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.85384750
61Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.84433512
62Hepatitis C_Homo sapiens_hsa051600.84232332
63AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.80787561
64Viral carcinogenesis_Homo sapiens_hsa052030.79751365
65Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.78512507
66Spliceosome_Homo sapiens_hsa030400.76844369
67Neurotrophin signaling pathway_Homo sapiens_hsa047220.76118615
68p53 signaling pathway_Homo sapiens_hsa041150.75922175
69Phagosome_Homo sapiens_hsa041450.74577266
70Autoimmune thyroid disease_Homo sapiens_hsa053200.73107271
71HTLV-I infection_Homo sapiens_hsa051660.72553999
72Rheumatoid arthritis_Homo sapiens_hsa053230.71209610
73SNARE interactions in vesicular transport_Homo sapiens_hsa041300.70253223
74Pentose phosphate pathway_Homo sapiens_hsa000300.70123928
75VEGF signaling pathway_Homo sapiens_hsa043700.67845743
76Regulation of autophagy_Homo sapiens_hsa041400.67407835
77Nucleotide excision repair_Homo sapiens_hsa034200.65551028
78Type I diabetes mellitus_Homo sapiens_hsa049400.64587522
79Non-small cell lung cancer_Homo sapiens_hsa052230.63295994
80Cell cycle_Homo sapiens_hsa041100.59015798
81Prolactin signaling pathway_Homo sapiens_hsa049170.58929629
82Small cell lung cancer_Homo sapiens_hsa052220.56715769
83Pyrimidine metabolism_Homo sapiens_hsa002400.54770759
84Phospholipase D signaling pathway_Homo sapiens_hsa040720.54678044
85Colorectal cancer_Homo sapiens_hsa052100.53489230
86Renal cell carcinoma_Homo sapiens_hsa052110.53271395
87Collecting duct acid secretion_Homo sapiens_hsa049660.52819314
88Caffeine metabolism_Homo sapiens_hsa002320.52736602
89Phosphatidylinositol signaling system_Homo sapiens_hsa040700.52241771
90RNA degradation_Homo sapiens_hsa030180.51867300
91HIF-1 signaling pathway_Homo sapiens_hsa040660.51743352
92Adipocytokine signaling pathway_Homo sapiens_hsa049200.51355115
93African trypanosomiasis_Homo sapiens_hsa051430.50693475
94FoxO signaling pathway_Homo sapiens_hsa040680.50298231
95Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.49103660
96Notch signaling pathway_Homo sapiens_hsa043300.49037966
97Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.48837172
98N-Glycan biosynthesis_Homo sapiens_hsa005100.47990895
99Glycerophospholipid metabolism_Homo sapiens_hsa005640.46567096
100Fanconi anemia pathway_Homo sapiens_hsa034600.45104090
101Choline metabolism in cancer_Homo sapiens_hsa052310.44520051
102Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.44385384
103GnRH signaling pathway_Homo sapiens_hsa049120.44201875
104Proteasome_Homo sapiens_hsa030500.43381104
105Dorso-ventral axis formation_Homo sapiens_hsa043200.42733688
106MAPK signaling pathway_Homo sapiens_hsa040100.40698901
107Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.39180039
108Sphingolipid signaling pathway_Homo sapiens_hsa040710.38549227
109Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.37784926
110Endocytosis_Homo sapiens_hsa041440.37626233
111Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.37102880
112Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.37095477
113Inositol phosphate metabolism_Homo sapiens_hsa005620.36685358
114Regulation of actin cytoskeleton_Homo sapiens_hsa048100.36527724
115mTOR signaling pathway_Homo sapiens_hsa041500.36248145
116Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.34841046
117Insulin resistance_Homo sapiens_hsa049310.34339414
118Type II diabetes mellitus_Homo sapiens_hsa049300.32218195
119Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.31939197
120Systemic lupus erythematosus_Homo sapiens_hsa053220.31045181
121Endometrial cancer_Homo sapiens_hsa052130.30393647
122RNA transport_Homo sapiens_hsa030130.29540624
123Amoebiasis_Homo sapiens_hsa051460.28377426
124Carbohydrate digestion and absorption_Homo sapiens_hsa049730.27049225
125Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.25345314
126Rap1 signaling pathway_Homo sapiens_hsa040150.23730113

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