ARHGAP4

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 rhoGAP family of proteins which play a role in the regulation of small GTP-binding proteins belonging to the RAS superfamily. The protein encoded by the orthologous gene in rat is localized to the Golgi complex and can redistribute to microtubules. The rat protein stimulates the activity of some Rho GTPases in vitro. Genomic deletions of this gene and a neighboring gene have been found in patients with nephrogenic diabetes insipidus. Multiple transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1positive regulation of gamma-delta T cell activation (GO:0046645)7.24916097
2antigen processing and presentation of endogenous peptide antigen (GO:0002483)5.97664764
3antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)5.97664764
4antigen processing and presentation of endogenous antigen (GO:0019883)5.78698363
5regulation of gamma-delta T cell differentiation (GO:0045586)5.74936523
6negative regulation of cell killing (GO:0031342)5.67103275
7negative regulation of leukocyte mediated cytotoxicity (GO:0001911)5.67103275
8positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)5.45765699
9regulation of gamma-delta T cell activation (GO:0046643)5.34815584
10positive thymic T cell selection (GO:0045059)5.31361519
11regulation of B cell receptor signaling pathway (GO:0050855)5.28377888
12negative T cell selection (GO:0043383)5.10797174
13negative thymic T cell selection (GO:0045060)5.00476533
14B cell receptor signaling pathway (GO:0050853)4.91360905
15leukocyte aggregation (GO:0070486)4.83939051
16neutrophil activation involved in immune response (GO:0002283)4.71316650
17response to interleukin-15 (GO:0070672)4.68569354
18regulation of B cell differentiation (GO:0045577)4.65878083
19positive T cell selection (GO:0043368)4.64963077
20positive regulation by symbiont of host defense response (GO:0052509)4.58118134
21modulation by symbiont of host defense response (GO:0052031)4.58118134
22modulation by organism of immune response of other organism involved in symbiotic interaction (GO:004.58118134
23modulation by organism of defense response of other organism involved in symbiotic interaction (GO:04.58118134
24positive regulation by organism of defense response of other organism involved in symbiotic interact4.58118134
25modulation by symbiont of host immune response (GO:0052553)4.58118134
26antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.56852437
27positive regulation of B cell differentiation (GO:0045579)4.51603842
28T cell migration (GO:0072678)4.48314615
29detection of bacterium (GO:0016045)4.45570849
30detection of other organism (GO:0098543)4.45192023
31thymic T cell selection (GO:0045061)4.43644089
32response to peptidoglycan (GO:0032494)4.39646587
33T cell selection (GO:0045058)4.37310261
34cellular response to interleukin-15 (GO:0071350)4.34428736
35interferon-gamma production (GO:0032609)4.34414537
36macrophage activation involved in immune response (GO:0002281)4.07585058
37response to muramyl dipeptide (GO:0032495)4.02701591
38antigen receptor-mediated signaling pathway (GO:0050851)4.01096136
39regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)3.91629531
40regulation of interleukin-12 biosynthetic process (GO:0045075)3.89815966
41regulation of antigen receptor-mediated signaling pathway (GO:0050854)3.83735426
42T cell receptor signaling pathway (GO:0050852)3.80883884
43positive regulation of interleukin-2 biosynthetic process (GO:0045086)3.75409708
44regulation of T cell tolerance induction (GO:0002664)3.75340487
45T cell homeostasis (GO:0043029)3.73103996
46tolerance induction (GO:0002507)3.72329700
47regulation of regulatory T cell differentiation (GO:0045589)3.65925590
48regulation of isotype switching to IgG isotypes (GO:0048302)3.65358745
49mast cell activation (GO:0045576)3.64212464
50regulation of mast cell degranulation (GO:0043304)3.55844256
51T cell costimulation (GO:0031295)3.53330289
52detection of external biotic stimulus (GO:0098581)3.52746152
53negative regulation of leukocyte mediated immunity (GO:0002704)3.49989331
54regulation of alpha-beta T cell proliferation (GO:0046640)3.49655118
55lymphocyte costimulation (GO:0031294)3.48117736
56mature B cell differentiation (GO:0002335)3.47076535
57neutrophil activation (GO:0042119)3.46799302
58antigen processing and presentation via MHC class Ib (GO:0002475)3.44710207
59positive regulation of type I interferon-mediated signaling pathway (GO:0060340)3.42884764
60lymphocyte homeostasis (GO:0002260)3.40097965
61regulation of T cell receptor signaling pathway (GO:0050856)3.39708559
62myeloid cell activation involved in immune response (GO:0002275)3.38956873
63regulation of myeloid leukocyte mediated immunity (GO:0002886)3.36455711
64negative regulation of phagocytosis (GO:0050765)3.35224500
65NIK/NF-kappaB signaling (GO:0038061)3.28270801
66regulation of leukocyte degranulation (GO:0043300)3.27641362
67positive regulation of tolerance induction (GO:0002645)3.26748211
68regulation of dendritic cell antigen processing and presentation (GO:0002604)3.26010168
69mast cell activation involved in immune response (GO:0002279)3.25034507
70mast cell degranulation (GO:0043303)3.25034507
71granulocyte activation (GO:0036230)3.24742360
72positive regulation of interleukin-2 production (GO:0032743)3.23455232
73regulation of mast cell activation involved in immune response (GO:0033006)3.22602994
74immunoglobulin mediated immune response (GO:0016064)3.20822350
75regulation of antigen processing and presentation of peptide antigen (GO:0002583)3.20071148
76leukocyte cell-cell adhesion (GO:0007159)3.19481582
77regulation of interferon-beta biosynthetic process (GO:0045357)3.17181557
78response to host immune response (GO:0052572)3.16472809
79response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.16472809
80negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)3.15925162
81B cell mediated immunity (GO:0019724)3.13355344
82positive regulation of granulocyte differentiation (GO:0030854)3.12136842
83detection of biotic stimulus (GO:0009595)3.11541780
84positive regulation of isotype switching (GO:0045830)3.11051795
85regulation of type I interferon-mediated signaling pathway (GO:0060338)3.10885559
86mannose metabolic process (GO:0006013)3.10650674
87negative regulation of antigen receptor-mediated signaling pathway (GO:0050858)3.09177361
88immune response-activating cell surface receptor signaling pathway (GO:0002429)3.07493532
89activated T cell proliferation (GO:0050798)3.05714673
90regulation of interleukin-2 biosynthetic process (GO:0045076)3.05033295
91B cell homeostasis (GO:0001782)3.04922387
92regulation of antigen processing and presentation (GO:0002577)3.04835263
93response to type I interferon (GO:0034340)3.04339787
94leukocyte homeostasis (GO:0001776)3.04322555
95cellular extravasation (GO:0045123)3.02234483
96leukocyte degranulation (GO:0043299)3.02217415
97defense response to protozoan (GO:0042832)3.01864390
98negative regulation of innate immune response (GO:0045824)3.01313314
99cellular response to zinc ion (GO:0071294)3.00258348
100negative regulation of erythrocyte differentiation (GO:0045647)2.98922992
101regulation of tolerance induction (GO:0002643)2.98858195
102mature B cell differentiation involved in immune response (GO:0002313)2.98692767
103response to protozoan (GO:0001562)2.98683208
104lymph node development (GO:0048535)2.97103456
105type I interferon signaling pathway (GO:0060337)2.96601037
106cellular response to type I interferon (GO:0071357)2.96601037
107B cell proliferation (GO:0042100)2.95602153
108interferon-gamma-mediated signaling pathway (GO:0060333)2.94185196
109response to host (GO:0075136)2.93909844
110response to host defenses (GO:0052200)2.93909844
111response to defenses of other organism involved in symbiotic interaction (GO:0052173)2.93909844
112Arp2/3 complex-mediated actin nucleation (GO:0034314)2.92819137
113microglial cell activation (GO:0001774)2.92259937
114regulation of response to interferon-gamma (GO:0060330)2.91717835
115macrophage activation (GO:0042116)2.90934839
116megakaryocyte development (GO:0035855)2.90525568
117regulation of mast cell activation (GO:0033003)2.90373469
118positive regulation of mast cell activation (GO:0033005)2.89981369
119negative regulation of cytokine production involved in immune response (GO:0002719)2.89730574
120regulation of interferon-gamma-mediated signaling pathway (GO:0060334)2.88945421
121negative regulation of lymphocyte mediated immunity (GO:0002707)2.88892904
122negative regulation of interleukin-6 production (GO:0032715)2.88721196
123negative regulation of T cell mediated immunity (GO:0002710)2.87640130
124positive regulation of alpha-beta T cell proliferation (GO:0046641)2.87389907
125regulation of granulocyte differentiation (GO:0030852)2.83583789
126natural killer cell activation (GO:0030101)2.82969687
127detection of molecule of bacterial origin (GO:0032490)2.82839804
128regulation of isotype switching (GO:0045191)2.82413518
129natural killer cell differentiation (GO:0001779)2.81508794
130negative regulation of T-helper cell differentiation (GO:0045623)2.80447282
131negative regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043371)2.80447282
132regulation of natural killer cell mediated immunity (GO:0002715)2.79231087
133regulation of natural killer cell mediated cytotoxicity (GO:0042269)2.79231087
134myeloid dendritic cell activation (GO:0001773)2.78952837
135respiratory burst (GO:0045730)2.78394087
136regulation of T-helper 2 cell differentiation (GO:0045628)2.78330858
137JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)2.78304832
138T cell proliferation (GO:0042098)2.77682686
139positive regulation of B cell activation (GO:0050871)2.77566844
140negative regulation of interleukin-12 production (GO:0032695)2.75399420
141ribosomal small subunit assembly (GO:0000028)2.74408361
142positive regulation of antigen processing and presentation (GO:0002579)2.74391645
143regulation of B cell mediated immunity (GO:0002712)2.73733047
144positive regulation of immunoglobulin production (GO:0002639)2.69640347
145positive regulation of DNA recombination (GO:0045911)2.69253065
146regulation of B cell proliferation (GO:0030888)2.68077514
147germinal center formation (GO:0002467)2.68023518

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXP3_17237761_ChIP-ChIP_TREG_Mouse4.92747538
2IRF8_22096565_ChIP-ChIP_GC-B_Human4.77440424
3STAT6_20620947_ChIP-Seq_CD4_POS_T_Human4.45148347
4E2F7_22180533_ChIP-Seq_HELA_Human4.22066436
5IRF8_22096565_ChIP-ChIP_GC-B_Mouse3.73710304
6MYC_22102868_ChIP-Seq_BL_Human3.70155530
7* MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.57647274
8IRF8_21731497_ChIP-ChIP_J774_Mouse3.31000258
9SPI1_22096565_ChIP-ChIP_GC-B_Mouse3.18285142
10VDR_21846776_ChIP-Seq_THP-1_Human3.01150353
11FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse2.89697117
12RUNX_20019798_ChIP-Seq_JUKART_Human2.88776897
13SCL_19346495_ChIP-Seq_HPC-7_Human2.87093064
14MYB_26560356_Chip-Seq_TH2_Human2.76435171
15STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.73272934
16EGR1_19374776_ChIP-ChIP_THP-1_Human2.71618877
17IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.65330627
18MAF_26560356_Chip-Seq_TH1_Human2.63669735
19RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.59971877
20SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.56843716
21SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.55185497
22STAT4_19710469_ChIP-ChIP_TH1__Mouse2.54244573
23MYB_26560356_Chip-Seq_TH1_Human2.52666586
24IRF8_27001747_Chip-Seq_BMDM_Mouse2.52161083
25* UTX_26944678_Chip-Seq_JUKART_Human2.45108053
26MYB_21317192_ChIP-Seq_ERMYB_Mouse2.36503132
27* SPI1_23547873_ChIP-Seq_NB4_Human2.34760941
28* NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.34004138
29ASXL1_24218140_ChIP-Seq_BMDM_Mouse2.20108803
30RUNX1_22412390_ChIP-Seq_EML_Mouse2.15942112
31* E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human2.14483380
32TCF7_22412390_ChIP-Seq_EML_Mouse2.11272379
33* VDR_24763502_ChIP-Seq_THP-1_Human2.08804417
34FLI1_20887958_ChIP-Seq_HPC-7_Mouse2.06983211
35BP1_19119308_ChIP-ChIP_Hs578T_Human2.04048305
36BRD4_27068464_Chip-Seq_AML-cells_Mouse1.97499728
37NOTCH1_21737748_ChIP-Seq_TLL_Human1.89176235
38NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.86595592
39CIITA_25753668_ChIP-Seq_RAJI_Human1.84130835
40MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.82293029
41ELF1_17652178_ChIP-ChIP_JURKAT_Human1.82148789
42TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.82086914
43MAF_26560356_Chip-Seq_TH2_Human1.81011870
44KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.79336066
45SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.74050554
46SPI1_23127762_ChIP-Seq_K562_Human1.72335790
47GATA3_27048872_Chip-Seq_THYMUS_Human1.68586481
48* NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.62515842
49KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.56822187
50KDM2B_26808549_Chip-Seq_DND41_Human1.53192032
51GATA2_22383799_ChIP-Seq_G1ME_Mouse1.49119809
52FOXM1_23109430_ChIP-Seq_U2OS_Human1.48902701
53LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.48258875
54VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.42907532
55EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.41030789
56GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.37175765
57PU_27001747_Chip-Seq_BMDM_Mouse1.35950762
58GATA1_22383799_ChIP-Seq_G1ME_Mouse1.35735838
59KDM2B_26808549_Chip-Seq_SUP-B15_Human1.35601990
60VDR_24787735_ChIP-Seq_THP-1_Human1.35266522
61GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.35049206
62LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.32272037
63ERG_20887958_ChIP-Seq_HPC-7_Mouse1.31606385
64* BCL6_27268052_Chip-Seq_Bcells_Human1.28367641
65TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.27239685
66BCOR_27268052_Chip-Seq_Bcells_Human1.26728485
67ELK3_25401928_ChIP-Seq_HUVEC_Human1.26454570
68CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.20889541
69CTCF_27219007_Chip-Seq_ERYTHROID_Human1.20568916
70ELF1_20517297_ChIP-Seq_JURKAT_Human1.19922938
71* HOXB4_20404135_ChIP-ChIP_EML_Mouse1.18435535
72GATA3_26560356_Chip-Seq_TH2_Human1.15187120
73GATA1_19941827_ChIP-Seq_MEL_Mouse1.14123540
74RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.13949952
75PU.1_20513432_ChIP-Seq_Bcells_Mouse1.13753247
76SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.13560436
77P68_20966046_ChIP-Seq_HELA_Human1.12969528
78GATA1_22025678_ChIP-Seq_K562_Human1.12416885
79E2F4_17652178_ChIP-ChIP_JURKAT_Human1.12360580
80CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.11912724
81IKZF1_21737484_ChIP-ChIP_HCT116_Human1.11843392
82VDR_23849224_ChIP-Seq_CD4+_Human1.11725193
83* SA1_27219007_Chip-Seq_ERYTHROID_Human1.11614114
84FOXP3_21729870_ChIP-Seq_TREG_Human1.11016396
85PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.10909413
86STAT6_21828071_ChIP-Seq_BEAS2B_Human1.10684474
87RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.09464963
88TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.09065372
89GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.08548893
90CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.08284437
91STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.07515656
92RACK7_27058665_Chip-Seq_MCF-7_Human1.06019468
93SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.01395274
94VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.00393753
95SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.97591154
96GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.94682241
97NCOR1_26117541_ChIP-Seq_K562_Human0.92371464
98PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.92044893
99CTCF_21964334_ChIP-Seq_BJAB-B_Human0.90378241
100CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.88535608
101KDM2B_26808549_Chip-Seq_K562_Human0.88528227
102CTCF_26484167_Chip-Seq_Bcells_Mouse0.88029640
103CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse0.87293547
104NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.86254289
105KDM2B_26808549_Chip-Seq_JURKAT_Human0.86086436
106* FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.85975811
107SPI1_20517297_ChIP-Seq_HL60_Human0.84745693
108* RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.84699543
109FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse0.83633709
110FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human0.83081929
111THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.82258626
112Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.81647585
113TFEB_21752829_ChIP-Seq_HELA_Human0.79467524
114ETS1_22383799_ChIP-Seq_G1ME_Mouse0.79124508
115PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.77463323
116E2F1_21310950_ChIP-Seq_MCF-7_Human0.76276314
117KDM5A_27292631_Chip-Seq_BREAST_Human0.72900133
118GATA1_19941826_ChIP-Seq_K562_Human0.72836055
119LXR_22292898_ChIP-Seq_THP-1_Human0.72123665
120P300_27268052_Chip-Seq_Bcells_Human0.71198229

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001835_abnormal_antigen_presentation4.14658036
2MP0003763_abnormal_thymus_physiology3.89543620
3MP0005671_abnormal_response_to3.63345640
4MP0001800_abnormal_humoral_immune3.55731731
5MP0000685_abnormal_immune_system3.53666363
6MP0005387_immune_system_phenotype3.30213093
7MP0001790_abnormal_immune_system3.30213093
8MP0002396_abnormal_hematopoietic_system2.99892666
9MP0002452_abnormal_antigen_presenting2.96325686
10MP0005000_abnormal_immune_tolerance2.92752292
11MP0002420_abnormal_adaptive_immunity2.88543711
12MP0002723_abnormal_immune_serum2.86822398
13MP0001819_abnormal_immune_cell2.83646234
14MP0002398_abnormal_bone_marrow2.80987946
15MP0009785_altered_susceptibility_to2.70027905
16MP0003436_decreased_susceptibility_to2.64691308
17MP0003303_peritoneal_inflammation2.56096145
18MP0005025_abnormal_response_to2.53984019
19MP0000716_abnormal_immune_system2.48224060
20MP0001873_stomach_inflammation2.43342072
21MP0000689_abnormal_spleen_morphology2.39270430
22MP0002419_abnormal_innate_immunity2.34930464
23MP0002166_altered_tumor_susceptibility2.32732035
24MP0005464_abnormal_platelet_physiology2.30632108
25MP0002722_abnormal_immune_system2.29178858
26MP0002405_respiratory_system_inflammati2.24095211
27MP0000703_abnormal_thymus_morphology2.16709756
28MP0009333_abnormal_splenocyte_physiolog2.16436949
29MP0004808_abnormal_hematopoietic_stem2.14326391
30MP0002148_abnormal_hypersensitivity_rea2.12576099
31MP0002429_abnormal_blood_cell2.08580992
32MP0010155_abnormal_intestine_physiology1.99155393
33MP0006082_CNS_inflammation1.93235243
34MP0003300_gastrointestinal_ulcer1.89158611
35MP0004947_skin_inflammation1.86843256
36MP0002006_tumorigenesis1.80114291
37MP0009278_abnormal_bone_marrow1.77374788
38MP0001845_abnormal_inflammatory_respons1.75988581
39MP0000465_gastrointestinal_hemorrhage1.74203212
40MP0003866_abnormal_defecation1.74041110
41MP0008260_abnormal_autophagy1.69536558
42MP0001853_heart_inflammation1.67419654
43MP0005174_abnormal_tail_pigmentation1.66569779
44MP0003724_increased_susceptibility_to1.66255688
45MP0005397_hematopoietic_system_phenotyp1.65412143
46MP0001545_abnormal_hematopoietic_system1.65412143
47MP0002933_joint_inflammation1.50243982
48MP0000490_abnormal_crypts_of1.41201335
49MP0005451_abnormal_body_composition1.41103868
50MP0004510_myositis1.39140672
51MP0005075_abnormal_melanosome_morpholog1.37674258
52MP0005310_abnormal_salivary_gland1.29195558
53MP0008469_abnormal_protein_level1.23828843
54MP0001533_abnormal_skeleton_physiology1.18613279
55MP0003172_abnormal_lysosome_physiology1.17153451
56MP0009840_abnormal_foam_cell1.16560189
57MP0003191_abnormal_cellular_cholesterol1.09891644
58MP0000858_altered_metastatic_potential1.08957710
59MP0002019_abnormal_tumor_incidence1.08600202
60MP0000015_abnormal_ear_pigmentation1.08549176
61MP0003075_altered_response_to1.05920494
62MP0008057_abnormal_DNA_replication1.05173067
63MP0003183_abnormal_peptide_metabolism1.05017621
64MP0000569_abnormal_digit_pigmentation1.03218005
65MP0005058_abnormal_lysosome_morphology0.99074059
66MP0003077_abnormal_cell_cycle0.97415589
67MP0010094_abnormal_chromosome_stability0.97301692
68MP0003690_abnormal_glial_cell0.95253782
69MP0001851_eye_inflammation0.94637567
70MP0004883_abnormal_blood_vessel0.94031831
71MP0003448_altered_tumor_morphology0.93045762
72MP0002132_abnormal_respiratory_system0.92054308
73MP0008004_abnormal_stomach_pH0.90693962
74MP0002095_abnormal_skin_pigmentation0.90306718
75MP0003693_abnormal_embryo_hatching0.88228249
76MP0000604_amyloidosis0.87015319
77MP0010352_gastrointestinal_tract_polyps0.82577762
78MP0005390_skeleton_phenotype0.82464195
79MP0003806_abnormal_nucleotide_metabolis0.79140940
80MP0010307_abnormal_tumor_latency0.75578840
81MP0002277_abnormal_respiratory_mucosa0.74461393
82MP0008058_abnormal_DNA_repair0.73728839
83MP0009764_decreased_sensitivity_to0.73306348
84MP0009763_increased_sensitivity_to0.69128129
85MP0005023_abnormal_wound_healing0.67744162
86MP0003795_abnormal_bone_structure0.67477889
87MP0005164_abnormal_response_to0.66534963
88MP0003111_abnormal_nucleus_morphology0.66194459
89MP0002998_abnormal_bone_remodeling0.66185664
90MP0001663_abnormal_digestive_system0.65558851
91MP0008007_abnormal_cellular_replicative0.64976063
92MP0000313_abnormal_cell_death0.64277915
93MP0004185_abnormal_adipocyte_glucose0.63759538
94MP0002136_abnormal_kidney_physiology0.62390923
95MP0003828_pulmonary_edema0.61403747
96MP0001986_abnormal_taste_sensitivity0.60857936
97MP0004381_abnormal_hair_follicle0.59923061
98MP0000371_diluted_coat_color0.58030380
99MP0003091_abnormal_cell_migration0.57624932
100MP0003453_abnormal_keratinocyte_physiol0.57574292
101MP0008874_decreased_physiological_sensi0.57465047
102MP0009765_abnormal_xenobiotic_induced0.56824928
103MP0005076_abnormal_cell_differentiation0.55570472
104MP0000477_abnormal_intestine_morphology0.55366101
105MP0008961_abnormal_basal_metabolism0.54592645
106MP0003045_fibrosis0.54191929
107MP0005381_digestive/alimentary_phenotyp0.53605603
108MP0000343_altered_response_to0.53502908
109MP0002928_abnormal_bile_duct0.52916897
110MP0003566_abnormal_cell_adhesion0.52607449
111MP0005666_abnormal_adipose_tissue0.51681200
112MP0000249_abnormal_blood_vessel0.51146850
113MP0003656_abnormal_erythrocyte_physiolo0.49562613
114MP0002009_preneoplasia0.49158870
115MP0005166_decreased_susceptibility_to0.49084533
116MP0005535_abnormal_body_temperature0.48360952
117MP0000609_abnormal_liver_physiology0.48213143
118MP0002138_abnormal_hepatobiliary_system0.46662523
119MP0004130_abnormal_muscle_cell0.46528135
120MP0009115_abnormal_fat_cell0.46242908
121MP0000350_abnormal_cell_proliferation0.45782574
122MP0003943_abnormal_hepatobiliary_system0.44350098

Predicted human phenotypes

RankGene SetZ-score
1IgM deficiency (HP:0002850)5.02036589
2Recurrent viral infections (HP:0004429)4.90501914
3T lymphocytopenia (HP:0005403)4.78151668
4Agammaglobulinemia (HP:0004432)4.77498624
5Panhypogammaglobulinemia (HP:0003139)4.72790493
6Recurrent abscess formation (HP:0002722)4.70464425
7Recurrent bronchitis (HP:0002837)4.64525369
8Abnormality of T cell number (HP:0011839)4.57990092
9Recurrent fungal infections (HP:0002841)4.52658233
10Abnormal delayed hypersensitivity skin test (HP:0002963)4.44455784
11Chronic otitis media (HP:0000389)4.35040158
12Elevated erythrocyte sedimentation rate (HP:0003565)4.13786340
13Eczematoid dermatitis (HP:0000976)4.13448637
14Recurrent bacterial skin infections (HP:0005406)4.09285650
15Abnormality of T cells (HP:0002843)4.03945802
16Inflammation of the large intestine (HP:0002037)3.94509838
17Meningitis (HP:0001287)3.89490847
18Cellulitis (HP:0100658)3.84834149
19Gastrointestinal inflammation (HP:0004386)3.82704569
20Recurrent cutaneous fungal infections (HP:0011370)3.82424784
21Chronic mucocutaneous candidiasis (HP:0002728)3.82424784
22Colitis (HP:0002583)3.79322936
23Myositis (HP:0100614)3.72766801
24Abnormality of the fingertips (HP:0001211)3.69608474
25Pustule (HP:0200039)3.66281781
26Lymphopenia (HP:0001888)3.62556654
27Thyroiditis (HP:0100646)3.62060357
28B lymphocytopenia (HP:0010976)3.58218380
29Abnormality of B cell number (HP:0010975)3.58218380
30Abnormality of cells of the lymphoid lineage (HP:0012140)3.49694471
31Severe combined immunodeficiency (HP:0004430)3.39087699
32Nasal polyposis (HP:0100582)3.38037624
33Recurrent skin infections (HP:0001581)3.37970569
34Papilloma (HP:0012740)3.37131120
35Verrucae (HP:0200043)3.37131120
36Gastrointestinal stroma tumor (HP:0100723)3.35489832
37Autoimmune thrombocytopenia (HP:0001973)3.30468655
38Recurrent sinusitis (HP:0011108)3.29778194
39Abnormality of T cell physiology (HP:0011840)3.27979619
40Gastrointestinal infarctions (HP:0005244)3.27750239
41Combined immunodeficiency (HP:0005387)3.25773518
42Thrombocytosis (HP:0001894)3.25242732
43Prolonged bleeding time (HP:0003010)3.24250249
44Mediastinal lymphadenopathy (HP:0100721)3.20342489
45Vasculitis (HP:0002633)3.18140885
46IgG deficiency (HP:0004315)3.17870412
47Stomatitis (HP:0010280)3.12040392
48Eosinophilia (HP:0001880)3.09196432
49Abnormality of the nasal mucosa (HP:0000433)3.01653479
50Spontaneous hematomas (HP:0007420)2.94731238
51Granulocytopenia (HP:0001913)2.91625870
52Chronic diarrhea (HP:0002028)2.90531467
53Abnormality of eosinophils (HP:0001879)2.89308657
54Urticaria (HP:0001025)2.87594352
55Chronic obstructive pulmonary disease (HP:0006510)2.84994421
56Obstructive lung disease (HP:0006536)2.84994421
57Chronic sinusitis (HP:0011109)2.81130251
58Leukocytosis (HP:0001974)2.81046794
59Keratoconjunctivitis sicca (HP:0001097)2.77259673
60Increased cerebral lipofuscin (HP:0011813)2.74833808
61IgA deficiency (HP:0002720)2.62976326
62Abnormality of liposaccharide metabolism (HP:0010968)2.59621193
63Abnormality of glycosphingolipid metabolism (HP:0004343)2.59621193
64Abnormality of glycolipid metabolism (HP:0010969)2.59621193
65Lymphoma (HP:0002665)2.59095764
66Encephalitis (HP:0002383)2.58127342
67Increased IgE level (HP:0003212)2.57625857
68Epistaxis (HP:0000421)2.56268837
69Dysostosis multiplex (HP:0000943)2.56013246
70Emphysema (HP:0002097)2.55620094
71Bronchitis (HP:0012387)2.55264516
72Recurrent gram-negative bacterial infections (HP:0005420)2.53906372
73Abnormality of macrophages (HP:0004311)2.53511469
74Petechiae (HP:0000967)2.53388594
75Keratoconjunctivitis (HP:0001096)2.53314760
76Hypochromic anemia (HP:0001931)2.49475007
77Osteomyelitis (HP:0002754)2.48743936
78Hypoplasia of the thymus (HP:0000778)2.47654912
79Autoimmune hemolytic anemia (HP:0001890)2.45568189
80Increased IgM level (HP:0003496)2.41314715
81Increased neuronal autofluorescent lipopigment (HP:0002074)2.39917103
82Systemic lupus erythematosus (HP:0002725)2.37705263
83Loss of speech (HP:0002371)2.36809529
84Pulmonary embolism (HP:0002204)2.30506524
85Periodontitis (HP:0000704)2.29476050
86Purpura (HP:0000979)2.27576205
87Episodic fever (HP:0001954)2.27506494
88Basal cell carcinoma (HP:0002671)2.27330670
89Interstitial pulmonary disease (HP:0006530)2.27315687
90Chest pain (HP:0100749)2.25175501
91Sepsis (HP:0100806)2.24672107
92Hepatosplenomegaly (HP:0001433)2.24252181
93Recurrent otitis media (HP:0000403)2.21884889
94Restrictive lung disease (HP:0002091)2.21596813
95Optic neuritis (HP:0100653)2.21199430
96Retrobulbar optic neuritis (HP:0100654)2.21199430
97Orchitis (HP:0100796)2.21039059
98Increased serum ferritin (HP:0003281)2.20461675
99Gingival bleeding (HP:0000225)2.19332887
100Gingivitis (HP:0000230)2.18569175
101Pulmonary infiltrates (HP:0002113)2.18388236
102Recurrent pneumonia (HP:0006532)2.16065877
103Hemoptysis (HP:0002105)2.15900216
104Amyloidosis (HP:0011034)2.15214327
105Viral hepatitis (HP:0006562)2.14037332
106Impaired platelet aggregation (HP:0003540)2.13266804
107Abnormal platelet function (HP:0011869)2.13266804
108Skin ulcer (HP:0200042)2.12729888
109Hypochromic microcytic anemia (HP:0004840)2.11243677
110Recurrent lower respiratory tract infections (HP:0002783)2.10930322
111Abnormal platelet volume (HP:0011876)2.10288274
112Arterial thrombosis (HP:0004420)2.05946870
113Slow saccadic eye movements (HP:0000514)2.04543007
114Abnormality of the pleura (HP:0002103)2.03036153
115Premature loss of primary teeth (HP:0006323)2.00760247
116Papilledema (HP:0001085)1.98047980
117Hematochezia (HP:0002573)1.96469770
118Abnormality of iron homeostasis (HP:0011031)1.96207554
119Anorexia (HP:0002039)1.95912966
120Leukopenia (HP:0001882)1.95186289
121Abnormality of the prostate (HP:0008775)1.93607356
122Joint swelling (HP:0001386)1.92823775
123Polygenic inheritance (HP:0010982)1.92416282
124Parkinsonism with favorable response to dopaminergic medication (HP:0002548)1.92196722
125Microcytic anemia (HP:0001935)1.92174365
126Hypergammaglobulinemia (HP:0010702)1.90830847
127Poikiloderma (HP:0001029)1.87638691
128Fatigue (HP:0012378)1.85209903
129Abnormality of glycosaminoglycan metabolism (HP:0004371)1.85023655
130Vacuolated lymphocytes (HP:0001922)1.80680341
131Neutropenia (HP:0001875)1.80460283
132Cheilitis (HP:0100825)1.79437486

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP4K16.13800187
2TXK3.53060743
3PRPF4B3.19609602
4TYK22.65597759
5ZAP702.57891360
6JAK32.50979842
7GRK62.48941129
8STK102.43619072
9MAP3K102.35444847
10BTK2.32646823
11IKBKE2.30969747
12ITK2.21830628
13KIT2.18879191
14BLK2.12339462
15CSF1R2.08848670
16SYK2.05004959
17IRAK41.98375254
18TEC1.86740204
19EEF2K1.83514149
20FGFR41.81435852
21TBK11.80591995
22MAP3K141.79551184
23MAP3K131.78101802
24LCK1.70974915
25JAK11.70642299
26SIK21.68486923
27MAP3K111.67096732
28TGFBR21.64925836
29HCK1.62974519
30ERN11.48677375
31RIPK41.44575723
32CSK1.43727461
33LRRK21.38300792
34FES1.35193700
35MAP3K31.34324948
36FGFR31.32639899
37IKBKB1.28585200
38FLT31.27194469
39MAP2K31.25665249
40NLK1.24449872
41LYN1.24383679
42CLK11.23253650
43PKN21.22884427
44FGR1.19631225
45SMG11.17343624
46MARK31.14348396
47MAP3K11.10367750
48PIM11.08599547
49IRAK31.02328012
50RPS6KA40.98259655
51TNK20.96532853
52TAOK20.95594130
53CDC42BPA0.94046575
54CDK120.91186724
55PRKCQ0.84124992
56NME20.82702956
57SIK30.78206190
58CDK40.77717158
59JAK20.75918774
60KDR0.75696348
61CHUK0.75204164
62STK40.74932677
63MST40.73951577
64PRKCH0.73307624
65BRD40.72638966
66EPHB10.72484215
67NEK20.71594019
68MAP3K60.70709453
69BMPR20.68298689
70PDPK10.65769175
71CAMKK10.65389797
72TRIB30.64726265
73TAOK30.63742519
74KSR20.62454470
75MAP3K70.61622500
76HIPK20.58772275
77TGFBR10.58740750
78TTN0.56497969
79IRAK10.56411951
80IRAK20.56255367
81TRPM70.55367301
82MAP2K60.54318738
83MAPK120.52023975
84DYRK1B0.51669284
85MAP2K20.51556604
86MAPK40.51068275
87TESK20.50510138
88MAPK110.48895129
89PDK10.47232051
90PTK60.43325566
91CAMKK20.42588193
92CDK190.42451385
93RPS6KA60.41459005
94PIK3CG0.41209748
95MAPK70.39421438
96RET0.39262122
97CAMK1D0.39127582
98MARK20.38250883
99CDK90.38178736
100BMX0.37787679
101ATR0.37508432
102CDK60.37335747
103ICK0.36526926
104RPS6KB20.35457054
105ABL10.35075147
106GRK70.34362384
107CAMK1G0.33715281
108PRKD20.32661338
109FYN0.32648754
110RPS6KA20.32495558
111PDGFRB0.32312678
112RPS6KC10.30248358
113RPS6KL10.30248358
114ALK0.28840375
115MAP3K80.28158208
116MATK0.26035963
117MAPK30.25722454
118SGK30.24364460
119YES10.23934159
120MAPKAPK20.23328068
121PASK0.22916513
122EGFR0.22817698
123INSR0.22595474
124STK240.22462160
125TAOK10.21909748
126SIK10.21506409

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary immunodeficiency_Homo sapiens_hsa053405.08640132
2B cell receptor signaling pathway_Homo sapiens_hsa046623.27214169
3T cell receptor signaling pathway_Homo sapiens_hsa046602.67319036
4NF-kappa B signaling pathway_Homo sapiens_hsa040642.59988615
5Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046502.51174409
6Hematopoietic cell lineage_Homo sapiens_hsa046402.48076728
7Leishmaniasis_Homo sapiens_hsa051402.41876339
8Intestinal immune network for IgA production_Homo sapiens_hsa046722.39231226
9Measles_Homo sapiens_hsa051622.38589346
10Antigen processing and presentation_Homo sapiens_hsa046122.29783239
11Osteoclast differentiation_Homo sapiens_hsa043802.27326653
12Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.25567731
13Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.89713870
14Type I diabetes mellitus_Homo sapiens_hsa049401.87447451
15RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.84628982
16Herpes simplex infection_Homo sapiens_hsa051681.75062249
17Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.72273257
18Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.68755377
19Jak-STAT signaling pathway_Homo sapiens_hsa046301.60463013
20Toll-like receptor signaling pathway_Homo sapiens_hsa046201.56555255
21Acute myeloid leukemia_Homo sapiens_hsa052211.49012310
22DNA replication_Homo sapiens_hsa030301.46237278
23Chemokine signaling pathway_Homo sapiens_hsa040621.45526585
24Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.44529388
25Leukocyte transendothelial migration_Homo sapiens_hsa046701.43040784
26NOD-like receptor signaling pathway_Homo sapiens_hsa046211.41119697
27Staphylococcus aureus infection_Homo sapiens_hsa051501.39443140
28Influenza A_Homo sapiens_hsa051641.35966272
29Graft-versus-host disease_Homo sapiens_hsa053321.35687871
30Toxoplasmosis_Homo sapiens_hsa051451.34239560
31Hepatitis B_Homo sapiens_hsa051611.32705684
32Allograft rejection_Homo sapiens_hsa053301.32663419
33Platelet activation_Homo sapiens_hsa046111.30368961
34Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.26800386
35Base excision repair_Homo sapiens_hsa034101.26197640
36Shigellosis_Homo sapiens_hsa051311.20240903
37Tuberculosis_Homo sapiens_hsa051521.19392395
38Viral myocarditis_Homo sapiens_hsa054161.18610042
39Non-homologous end-joining_Homo sapiens_hsa034501.16886832
40Chronic myeloid leukemia_Homo sapiens_hsa052201.14786107
41Ribosome_Homo sapiens_hsa030101.13805293
42Apoptosis_Homo sapiens_hsa042101.13779803
43Other glycan degradation_Homo sapiens_hsa005111.12446249
44Pancreatic cancer_Homo sapiens_hsa052121.08411424
45Transcriptional misregulation in cancer_Homo sapiens_hsa052021.07467521
46Epstein-Barr virus infection_Homo sapiens_hsa051691.07126286
47Pertussis_Homo sapiens_hsa051331.04982106
48Phagosome_Homo sapiens_hsa041451.04257224
49Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.02639874
50Mismatch repair_Homo sapiens_hsa034301.02597084
51TNF signaling pathway_Homo sapiens_hsa046680.99521922
52Legionellosis_Homo sapiens_hsa051340.95040126
53Non-small cell lung cancer_Homo sapiens_hsa052230.94915417
54HTLV-I infection_Homo sapiens_hsa051660.92035515
55Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.90914907
56Malaria_Homo sapiens_hsa051440.90757993
57Hepatitis C_Homo sapiens_hsa051600.87855842
58Neurotrophin signaling pathway_Homo sapiens_hsa047220.84294034
59Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.81883906
60Spliceosome_Homo sapiens_hsa030400.80899212
61AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.80088496
62Viral carcinogenesis_Homo sapiens_hsa052030.78058509
63Colorectal cancer_Homo sapiens_hsa052100.75524704
64Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.74931090
65Homologous recombination_Homo sapiens_hsa034400.74695746
66Asthma_Homo sapiens_hsa053100.73463933
67Salmonella infection_Homo sapiens_hsa051320.70606252
68Renal cell carcinoma_Homo sapiens_hsa052110.69203433
69VEGF signaling pathway_Homo sapiens_hsa043700.69035181
70Phosphatidylinositol signaling system_Homo sapiens_hsa040700.68351671
71Autoimmune thyroid disease_Homo sapiens_hsa053200.68297008
72Choline metabolism in cancer_Homo sapiens_hsa052310.67433963
73Glycosaminoglycan degradation_Homo sapiens_hsa005310.66866517
74Prolactin signaling pathway_Homo sapiens_hsa049170.63369464
75Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.62898676
76Notch signaling pathway_Homo sapiens_hsa043300.62649988
77p53 signaling pathway_Homo sapiens_hsa041150.60910747
78GnRH signaling pathway_Homo sapiens_hsa049120.59920631
79Endometrial cancer_Homo sapiens_hsa052130.57299136
80Caffeine metabolism_Homo sapiens_hsa002320.56905110
81Small cell lung cancer_Homo sapiens_hsa052220.56823454
82Glycerophospholipid metabolism_Homo sapiens_hsa005640.56752072
83Adipocytokine signaling pathway_Homo sapiens_hsa049200.56315295
84Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.52805371
85Fanconi anemia pathway_Homo sapiens_hsa034600.51444222
86Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.51054622
87Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.51004393
88Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.48996568
89Inositol phosphate metabolism_Homo sapiens_hsa005620.48698993
90Nucleotide excision repair_Homo sapiens_hsa034200.48028656
91Lysine degradation_Homo sapiens_hsa003100.47956331
92Amoebiasis_Homo sapiens_hsa051460.47477785
93FoxO signaling pathway_Homo sapiens_hsa040680.46948663
94SNARE interactions in vesicular transport_Homo sapiens_hsa041300.46825417
95Insulin resistance_Homo sapiens_hsa049310.41151335
96Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.40388467
97RNA degradation_Homo sapiens_hsa030180.40207623
98African trypanosomiasis_Homo sapiens_hsa051430.40078579
99Regulation of actin cytoskeleton_Homo sapiens_hsa048100.40021338
100Lysosome_Homo sapiens_hsa041420.39949514
101Endocytosis_Homo sapiens_hsa041440.38813433
102Cell cycle_Homo sapiens_hsa041100.38712713
103Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.37494917
104Dorso-ventral axis formation_Homo sapiens_hsa043200.35886906
105Type II diabetes mellitus_Homo sapiens_hsa049300.35860177
106ErbB signaling pathway_Homo sapiens_hsa040120.35313021
107mTOR signaling pathway_Homo sapiens_hsa041500.33665663
108HIF-1 signaling pathway_Homo sapiens_hsa040660.33193060
109Sphingolipid signaling pathway_Homo sapiens_hsa040710.33166817
110Carbohydrate digestion and absorption_Homo sapiens_hsa049730.32073141
111MAPK signaling pathway_Homo sapiens_hsa040100.31687479
112Bladder cancer_Homo sapiens_hsa052190.31016512
113ABC transporters_Homo sapiens_hsa020100.30779916
114Estrogen signaling pathway_Homo sapiens_hsa049150.30678431
115mRNA surveillance pathway_Homo sapiens_hsa030150.30150328
116Phospholipase D signaling pathway_Homo sapiens_hsa040720.29950356
117Rap1 signaling pathway_Homo sapiens_hsa040150.28359484
118Prostate cancer_Homo sapiens_hsa052150.27970963
119Glioma_Homo sapiens_hsa052140.27954984
120Rheumatoid arthritis_Homo sapiens_hsa053230.27525004
121Pathways in cancer_Homo sapiens_hsa052000.26935994
122Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.26047876

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