RNF213

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 protein containing a C3HC4-type RING finger domain, which is a specialized type of Zn-finger that binds two atoms of zinc and is thought to be involved in mediating protein-protein interactions. The protein also contains an AAA domain, which is associated with ATPase activity. This gene is a susceptibility gene for Moyamoya disease, a vascular disorder of intracranial arteries. This gene is also a translocation partner in anaplastic large cell lymphoma and inflammatory myofibroblastic tumor cases, where a t(2;17)(p23;q25) translocation has been identified with the anaplastic lymphoma kinase (ALK) gene on chromosome 2, and a t(8;17)(q24;q25) translocation has been identified with the MYC gene on chromosome 8. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)6.65211009
2antigen processing and presentation of endogenous peptide antigen (GO:0002483)6.65211009
3antigen processing and presentation of endogenous antigen (GO:0019883)6.11179874
4modulation by organism of immune response of other organism involved in symbiotic interaction (GO:006.03998604
5modulation by organism of defense response of other organism involved in symbiotic interaction (GO:06.03998604
6positive regulation by organism of defense response of other organism involved in symbiotic interact6.03998604
7modulation by symbiont of host immune response (GO:0052553)6.03998604
8positive regulation by symbiont of host defense response (GO:0052509)6.03998604
9modulation by symbiont of host defense response (GO:0052031)6.03998604
10positive regulation of gamma-delta T cell activation (GO:0046645)5.91753376
11positive regulation of interferon-alpha production (GO:0032727)5.89936694
12response to type I interferon (GO:0034340)5.65617138
13type I interferon signaling pathway (GO:0060337)5.61592072
14cellular response to type I interferon (GO:0071357)5.61592072
15regulation of interferon-alpha production (GO:0032647)5.56313480
16response to interferon-alpha (GO:0035455)5.39158608
17antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G5.19913975
18NIK/NF-kappaB signaling (GO:0038061)4.67186713
19regulation of interferon-beta biosynthetic process (GO:0045357)4.66658799
20positive regulation of type I interferon-mediated signaling pathway (GO:0060340)4.54740809
21response to immune response of other organism involved in symbiotic interaction (GO:0052564)4.49458064
22response to host immune response (GO:0052572)4.49458064
23negative T cell selection (GO:0043383)4.41068412
24positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)4.33817626
25positive regulation of interferon-beta production (GO:0032728)4.28841641
26cellular response to virus (GO:0098586)4.24831873
27regulation of gamma-delta T cell activation (GO:0046643)4.22335519
28macrophage activation involved in immune response (GO:0002281)4.21260721
29response to defenses of other organism involved in symbiotic interaction (GO:0052173)4.13703025
30response to host (GO:0075136)4.13703025
31response to host defenses (GO:0052200)4.13703025
32I-kappaB phosphorylation (GO:0007252)4.11604254
33response to peptidoglycan (GO:0032494)4.01624016
34interferon-gamma-mediated signaling pathway (GO:0060333)3.97847126
35regulation of interleukin-12 biosynthetic process (GO:0045075)3.97715502
36response to muramyl dipeptide (GO:0032495)3.96754188
37negative regulation of T cell mediated immunity (GO:0002710)3.95496475
38cellular response to interferon-alpha (GO:0035457)3.94028632
39regulation of dendritic cell antigen processing and presentation (GO:0002604)3.87471765
40negative regulation of viral genome replication (GO:0045071)3.84943267
41regulation of type I interferon-mediated signaling pathway (GO:0060338)3.84679876
42regulation of RIG-I signaling pathway (GO:0039535)3.83615421
43positive regulation of antigen processing and presentation (GO:0002579)3.82628843
44positive T cell selection (GO:0043368)3.81842105
45response to interleukin-15 (GO:0070672)3.81193282
46immunoglobulin mediated immune response (GO:0016064)3.68581430
47detection of other organism (GO:0098543)3.67415433
48positive regulation of natural killer cell differentiation (GO:0032825)3.64389240
49negative regulation of lymphocyte mediated immunity (GO:0002707)3.62425706
50leukocyte aggregation (GO:0070486)3.60150267
51natural killer cell mediated cytotoxicity (GO:0042267)3.59438603
52natural killer cell mediated immunity (GO:0002228)3.59438603
53regulation of gamma-delta T cell differentiation (GO:0045586)3.59323720
54positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)3.56607578
55cellular extravasation (GO:0045123)3.55516088
56T cell selection (GO:0045058)3.53506803
57B cell receptor signaling pathway (GO:0050853)3.47818302
58thymic T cell selection (GO:0045061)3.43707211
59detection of bacterium (GO:0016045)3.41672491
60activated T cell proliferation (GO:0050798)3.41274060
61detection of external biotic stimulus (GO:0098581)3.40384691
62positive regulation of cellular amide metabolic process (GO:0034250)3.39597684
63positive regulation of humoral immune response (GO:0002922)3.36308444
64cellular response to interleukin-15 (GO:0071350)3.36302729
65JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)3.29672394
66neutrophil activation involved in immune response (GO:0002283)3.28596164
67defense response to virus (GO:0051607)3.28561971
68cellular response to interferon-beta (GO:0035458)3.27507402
69positive regulation of interleukin-2 biosynthetic process (GO:0045086)3.25143481
70regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)3.24592033
71regulation of interferon-beta production (GO:0032648)3.23877515
72negative regulation of leukocyte mediated immunity (GO:0002704)3.21559533
73regulation of antigen processing and presentation (GO:0002577)3.20703258
74histone H3-K36 demethylation (GO:0070544)3.20286487
75T cell migration (GO:0072678)3.19554010
76microglial cell activation (GO:0001774)3.16906912
77positive regulation of B cell differentiation (GO:0045579)3.16237352
78cellular response to ethanol (GO:0071361)3.15257416
79positive regulation of T cell cytokine production (GO:0002726)3.14557148
80regulation of T cell tolerance induction (GO:0002664)3.13369047
81positive regulation of granulocyte differentiation (GO:0030854)3.12454091
82regulation of necroptotic process (GO:0060544)3.11354355
83positive regulation of toll-like receptor signaling pathway (GO:0034123)3.09573588
84cellular response to interferon-gamma (GO:0071346)3.09558879
85negative regulation of cell killing (GO:0031342)3.06613610
86negative regulation of leukocyte mediated cytotoxicity (GO:0001911)3.06613610
87regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039531)3.06471877
88tolerance induction (GO:0002507)3.06333771
89positive regulation of interleukin-8 biosynthetic process (GO:0045416)3.05804720
90regulation of tolerance induction (GO:0002643)3.04949155
91regulation of MHC class I biosynthetic process (GO:0045343)3.04531055
92regulation of B cell differentiation (GO:0045577)3.03448362
93negative regulation of interleukin-12 production (GO:0032695)3.02501611
94positive regulation of interleukin-12 production (GO:0032735)3.02219936
95interferon-gamma production (GO:0032609)3.02102706
96positive regulation of response to biotic stimulus (GO:0002833)3.01320269
97lipopolysaccharide-mediated signaling pathway (GO:0031663)2.97647757
98modulation by symbiont of host cellular process (GO:0044068)2.97259072
99mature B cell differentiation (GO:0002335)2.95249960
100detection of biotic stimulus (GO:0009595)2.94851170
101positive regulation of tolerance induction (GO:0002645)2.93678525
102regulation of T-helper 1 cell differentiation (GO:0045625)2.93536064
103regulation of regulatory T cell differentiation (GO:0045589)2.93233528
104negative regulation of type I interferon production (GO:0032480)2.91572259
105interferon-gamma secretion (GO:0072643)2.91442018
106antigen processing and presentation via MHC class Ib (GO:0002475)2.91047284
107negative regulation of erythrocyte differentiation (GO:0045647)2.89433729
108positive regulation of type 2 immune response (GO:0002830)2.88914544
109germinal center formation (GO:0002467)2.87509923
110response to interferon-beta (GO:0035456)2.85533101
111positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)2.84912769
112positive regulation of interferon-gamma biosynthetic process (GO:0045078)2.84756502
113negative regulation of adaptive immune response based on somatic recombination of immune receptors b2.84623537
114defense response to protozoan (GO:0042832)2.84311754
115myeloid cell activation involved in immune response (GO:0002275)2.81576054
116phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)2.79413259
117detection of molecule of bacterial origin (GO:0032490)2.76563294
118B cell mediated immunity (GO:0019724)2.75465334
119regulation of toll-like receptor signaling pathway (GO:0034121)2.74811066
120regulation of response to interferon-gamma (GO:0060330)2.74291866
121negative regulation of innate immune response (GO:0045824)2.74288715
122regulation of B cell receptor signaling pathway (GO:0050855)2.71800534
123regulation of interleukin-12 production (GO:0032655)2.71025170
124regulation of alpha-beta T cell proliferation (GO:0046640)2.71008284
125cellular response to exogenous dsRNA (GO:0071360)2.69713051
126positive thymic T cell selection (GO:0045059)2.69683795
127hepatocyte apoptotic process (GO:0097284)2.69136191
128production of molecular mediator involved in inflammatory response (GO:0002532)2.67039083
129negative regulation of amyloid precursor protein catabolic process (GO:1902992)2.66901116
130negative regulation of adaptive immune response (GO:0002820)2.66273154
131regulation of syncytium formation by plasma membrane fusion (GO:0060142)2.66206672
132cell adhesion mediated by integrin (GO:0033627)2.65386838
133macrophage activation (GO:0042116)2.65373086
134response to protozoan (GO:0001562)2.64533377
135granulocyte activation (GO:0036230)2.63231701
136cytoplasmic pattern recognition receptor signaling pathway (GO:0002753)2.62402290
137regulation of antigen receptor-mediated signaling pathway (GO:0050854)2.62142769
138response to interferon-gamma (GO:0034341)2.61603107
139negative thymic T cell selection (GO:0045060)2.60507045
140negative regulation of viral process (GO:0048525)2.60305179
141negative regulation of myeloid cell apoptotic process (GO:0033033)2.59795112
142neutrophil activation (GO:0042119)2.59355785
143regulation of T cell mediated cytotoxicity (GO:0001914)2.59139631
144cytokine secretion (GO:0050663)2.58290990
145JAK-STAT cascade (GO:0007259)2.56401335

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_22096565_ChIP-ChIP_GC-B_Human7.57788722
2IRF1_21803131_ChIP-Seq_MONOCYTES_Human5.92164562
3IRF8_21731497_ChIP-ChIP_J774_Mouse5.54557147
4FOXP3_17237761_ChIP-ChIP_TREG_Mouse4.41074706
5IRF8_22096565_ChIP-ChIP_GC-B_Mouse4.38653217
6IRF8_27001747_Chip-Seq_BMDM_Mouse3.68269434
7STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.47785893
8SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse3.30807596
9NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse3.25004850
10NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse3.16582263
11EGR1_19374776_ChIP-ChIP_THP-1_Human3.10143547
12MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.76995827
13STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.76007633
14GATA1_22025678_ChIP-Seq_K562_Human2.69966834
15RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.64986231
16MYB_21317192_ChIP-Seq_ERMYB_Mouse2.58652860
17Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.54016999
18STAT4_19710469_ChIP-ChIP_TH1__Mouse2.41706573
19STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse2.40236842
20SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.15396596
21E2F7_22180533_ChIP-Seq_HELA_Human1.98592119
22* MAF_26560356_Chip-Seq_TH1_Human1.96915919
23BP1_19119308_ChIP-ChIP_Hs578T_Human1.93067657
24BRD4_27068464_Chip-Seq_AML-cells_Mouse1.90312684
25FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.84646297
26SCL_19346495_ChIP-Seq_HPC-7_Human1.83070668
27STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.81087468
28* MYB_26560356_Chip-Seq_TH1_Human1.79212275
29* MYB_26560356_Chip-Seq_TH2_Human1.77684995
30VDR_21846776_ChIP-Seq_THP-1_Human1.71414030
31SPI1_23127762_ChIP-Seq_K562_Human1.68976361
32ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.66925013
33RUNX_20019798_ChIP-Seq_JUKART_Human1.66463404
34SPI1_23547873_ChIP-Seq_NB4_Human1.61870518
35PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.60075814
36VDR_24763502_ChIP-Seq_THP-1_Human1.55229369
37PU_27001747_Chip-Seq_BMDM_Mouse1.53515032
38GATA2_21666600_ChIP-Seq_HMVEC_Human1.47591484
39MYC_22102868_ChIP-Seq_BL_Human1.45213702
40TCF7_22412390_ChIP-Seq_EML_Mouse1.44901696
41VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.43986035
42RUNX1_22412390_ChIP-Seq_EML_Mouse1.43736912
43NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.42879683
44TP63_17297297_ChIP-ChIP_HaCaT_Human1.38778944
45* UTX_26944678_Chip-Seq_JUKART_Human1.34120082
46E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.30744883
47KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.29884636
48ELK3_25401928_ChIP-Seq_HUVEC_Human1.23931021
49BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.23464660
50* GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.18733351
51* GATA3_27048872_Chip-Seq_THYMUS_Human1.17682951
52KDM2B_26808549_Chip-Seq_JURKAT_Human1.17390906
53VDR_24787735_ChIP-Seq_THP-1_Human1.15536599
54CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.14663226
55CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.14411919
56* KDM2B_26808549_Chip-Seq_SUP-B15_Human1.14328290
57KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.14311965
58CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.14076945
59TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.12836454
60FOXO3_23340844_ChIP-Seq_DLD1_Human1.12809625
61GATA2_22383799_ChIP-Seq_G1ME_Mouse1.12022573
62SMAD_19615063_ChIP-ChIP_OVARY_Human1.11719112
63KDM2B_26808549_Chip-Seq_DND41_Human1.11509851
64RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.11231699
65PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.10779084
66CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.09173749
67THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.08475329
68* NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.07104395
69FOXM1_23109430_ChIP-Seq_U2OS_Human1.06302194
70FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human1.05375393
71KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.04964724
72* MAF_26560356_Chip-Seq_TH2_Human1.03472168
73LXR_22158963_ChIP-Seq_LIVER_Mouse1.02210308
74* GATA3_26560356_Chip-Seq_TH2_Human1.01940035
75PPARA_22158963_ChIP-Seq_LIVER_Mouse1.00766151
76ESR1_17901129_ChIP-ChIP_LIVER_Mouse0.99709635
77SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.99453483
78EGR1_23403033_ChIP-Seq_LIVER_Mouse0.97849407
79RXR_22158963_ChIP-Seq_LIVER_Mouse0.97616228
80GATA1_19941827_ChIP-Seq_MEL_Mouse0.96627162
81RUNX1_17652178_ChIP-ChIP_JURKAT_Human0.95967543
82TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse0.95139080
83SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.94766478
84SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.94766478
85LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.93322632
86ESR1_20079471_ChIP-ChIP_T-47D_Human0.89083953
87GATA1_19941827_ChIP-Seq_MEL86_Mouse0.88028602
88MEIS1_20887958_ChIP-Seq_HPC-7_Mouse0.86486635
89TFEB_21752829_ChIP-Seq_HELA_Human0.84743560
90RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.84306696
91VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human0.84152515
92STAT6_21828071_ChIP-Seq_BEAS2B_Human0.84060337
93GATA1_22383799_ChIP-Seq_G1ME_Mouse0.83615227
94SALL1_21062744_ChIP-ChIP_HESCs_Human0.82828612
95GATA6_25053715_ChIP-Seq_YYC3_Human0.82571094
96ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.81748545
97CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.80923142
98GATA2_19941826_ChIP-Seq_K562_Human0.78712225
99LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.78213051
100CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse0.77844894
101BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.77069381
102PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.76054772
103TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.75062251
104GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.74098631
105GATA1_19941826_ChIP-Seq_K562_Human0.73850215
106* GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.73785459
107SMRT_27268052_Chip-Seq_Bcells_Human0.73307176
108CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.72998236
109FOXA2_19822575_ChIP-Seq_HepG2_Human0.72673354
110SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.71535115
111ESR2_21235772_ChIP-Seq_MCF-7_Human0.71517300
112TP53_16413492_ChIP-PET_HCT116_Human0.71426127
113* NCOR1_26117541_ChIP-Seq_K562_Human0.71003873
114* PPAR_26484153_Chip-Seq_NCI-H1993_Human0.69918222
115KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.69152128
116PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.69004563
117SMAD4_19686287_ChIP-ChIP_HaCaT_Human0.68939418
118NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.68683776
119KDM2B_26808549_Chip-Seq_K562_Human0.68142022

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001835_abnormal_antigen_presentation3.91893971
2MP0000569_abnormal_digit_pigmentation3.49444697
3MP0000685_abnormal_immune_system3.12486690
4MP0009785_altered_susceptibility_to3.02398441
5MP0003303_peritoneal_inflammation2.95484834
6MP0001790_abnormal_immune_system2.88107178
7MP0005387_immune_system_phenotype2.88107178
8MP0003436_decreased_susceptibility_to2.76196810
9MP0001800_abnormal_humoral_immune2.57165990
10MP0005025_abnormal_response_to2.55139677
11MP0005000_abnormal_immune_tolerance2.47275523
12MP0004510_myositis2.42735011
13MP0002419_abnormal_innate_immunity2.42186792
14MP0002166_altered_tumor_susceptibility2.40624394
15MP0002452_abnormal_antigen_presenting2.40368036
16MP0005058_abnormal_lysosome_morphology2.36836847
17MP0002723_abnormal_immune_serum2.30621798
18MP0003300_gastrointestinal_ulcer2.30263096
19MP0004947_skin_inflammation2.19455600
20MP0005451_abnormal_body_composition2.12889072
21MP0005671_abnormal_response_to2.10535782
22MP0009278_abnormal_bone_marrow2.10346624
23MP0003172_abnormal_lysosome_physiology2.09034038
24MP0003724_increased_susceptibility_to2.05526963
25MP0001819_abnormal_immune_cell2.04545313
26MP0002148_abnormal_hypersensitivity_rea2.03860543
27MP0006082_CNS_inflammation2.03439865
28MP0002006_tumorigenesis2.02045924
29MP0002420_abnormal_adaptive_immunity2.00620322
30MP0005464_abnormal_platelet_physiology1.84880903
31MP0010155_abnormal_intestine_physiology1.75113391
32MP0010307_abnormal_tumor_latency1.72513891
33MP0002398_abnormal_bone_marrow1.69979041
34MP0004381_abnormal_hair_follicle1.68693395
35MP0005397_hematopoietic_system_phenotyp1.64262542
36MP0001545_abnormal_hematopoietic_system1.64262542
37MP0000716_abnormal_immune_system1.62509916
38MP0001845_abnormal_inflammatory_respons1.59006346
39MP0010352_gastrointestinal_tract_polyps1.57449483
40MP0002405_respiratory_system_inflammati1.56684013
41MP0001533_abnormal_skeleton_physiology1.56289382
42MP0003091_abnormal_cell_migration1.55594647
43MP0009840_abnormal_foam_cell1.54472677
44MP0008469_abnormal_protein_level1.52701421
45MP0003448_altered_tumor_morphology1.51904034
46MP0001853_heart_inflammation1.47297564
47MP0004808_abnormal_hematopoietic_stem1.46832712
48MP0003705_abnormal_hypodermis_morpholog1.46815797
49MP0004883_abnormal_blood_vessel1.46578641
50MP0005076_abnormal_cell_differentiation1.45449894
51MP0003566_abnormal_cell_adhesion1.43979447
52MP0003656_abnormal_erythrocyte_physiolo1.42789680
53MP0000689_abnormal_spleen_morphology1.41458972
54MP0003763_abnormal_thymus_physiology1.39409909
55MP0002396_abnormal_hematopoietic_system1.39061747
56MP0001873_stomach_inflammation1.36733028
57MP0003183_abnormal_peptide_metabolism1.36656988
58MP0002254_reproductive_system_inflammat1.35687855
59MP0002429_abnormal_blood_cell1.33247917
60MP0003690_abnormal_glial_cell1.32595441
61MP0002722_abnormal_immune_system1.30205593
62MP0005174_abnormal_tail_pigmentation1.28659428
63MP0000604_amyloidosis1.28649281
64MP0009764_decreased_sensitivity_to1.26995719
65MP0003191_abnormal_cellular_cholesterol1.23340440
66MP0001958_emphysema1.21987888
67MP0008057_abnormal_DNA_replication1.21046808
68MP0008260_abnormal_autophagy1.18720117
69MP0000371_diluted_coat_color1.17245248
70MP0005310_abnormal_salivary_gland1.16773088
71MP0002998_abnormal_bone_remodeling1.16084271
72MP0003045_fibrosis1.13553296
73MP0005023_abnormal_wound_healing1.13388138
74MP0008438_abnormal_cutaneous_collagen1.12852618
75MP0005164_abnormal_response_to1.12755007
76MP0009763_increased_sensitivity_to1.09392572
77MP0002138_abnormal_hepatobiliary_system1.08548192
78MP0009333_abnormal_splenocyte_physiolog1.07534242
79MP0003453_abnormal_keratinocyte_physiol1.06232918
80MP0002332_abnormal_exercise_endurance1.05802216
81MP0002009_preneoplasia1.04274819
82MP0000858_altered_metastatic_potential1.02775429
83MP0005083_abnormal_biliary_tract1.00460391
84MP0000343_altered_response_to0.95697616
85MP0000703_abnormal_thymus_morphology0.95281350
86MP0000767_abnormal_smooth_muscle0.92815315
87MP0003221_abnormal_cardiomyocyte_apopto0.86040509
88MP0000015_abnormal_ear_pigmentation0.84994632
89MP0008004_abnormal_stomach_pH0.84991893
90MP0003075_altered_response_to0.83476983
91MP0000609_abnormal_liver_physiology0.82571040
92MP0001915_intracranial_hemorrhage0.82431294
93MP0005621_abnormal_cell_physiology0.80891202
94MP0000465_gastrointestinal_hemorrhage0.78141280
95MP0002933_joint_inflammation0.77675960
96MP0004130_abnormal_muscle_cell0.77416548
97MP0005075_abnormal_melanosome_morpholog0.76053521
98MP0005360_urolithiasis0.75828722
99MP0001663_abnormal_digestive_system0.74931514
100MP0003866_abnormal_defecation0.73340505
101MP0000733_abnormal_muscle_development0.72760628
102MP0006054_spinal_hemorrhage0.72276339
103MP0000249_abnormal_blood_vessel0.72109947
104MP0005167_abnormal_blood-brain_barrier0.70491411
105MP0002132_abnormal_respiratory_system0.69981856
106MP0005390_skeleton_phenotype0.68501685
107MP0002877_abnormal_melanocyte_morpholog0.68292184
108MP0003828_pulmonary_edema0.68144839
109MP0009765_abnormal_xenobiotic_induced0.67392924
110MP0002136_abnormal_kidney_physiology0.67218742
111MP0002168_other_aberrant_phenotype0.66140254
112MP0005166_decreased_susceptibility_to0.64937692
113MP0004264_abnormal_extraembryonic_tissu0.64679016
114MP0005257_abnormal_intraocular_pressure0.64150523
115MP0010234_abnormal_vibrissa_follicle0.63492428
116MP0001851_eye_inflammation0.63074003
117MP0001881_abnormal_mammary_gland0.62736602
118MP0000598_abnormal_liver_morphology0.62438974
119MP0009115_abnormal_fat_cell0.60458615
120MP0003795_abnormal_bone_structure0.59944312

Predicted human phenotypes

RankGene SetZ-score
1Recurrent abscess formation (HP:0002722)4.58312781
2Chronic otitis media (HP:0000389)4.53430713
3Recurrent bacterial skin infections (HP:0005406)4.47194024
4Eczematoid dermatitis (HP:0000976)4.41558712
5Autoimmune thrombocytopenia (HP:0001973)4.29821532
6Parkinsonism with favorable response to dopaminergic medication (HP:0002548)4.14161893
7Recurrent viral infections (HP:0004429)4.00520506
8Myositis (HP:0100614)3.96687102
9Orchitis (HP:0100796)3.82332795
10Optic neuritis (HP:0100653)3.70938132
11Retrobulbar optic neuritis (HP:0100654)3.70938132
12Elevated erythrocyte sedimentation rate (HP:0003565)3.67759818
13Recurrent fungal infections (HP:0002841)3.62982488
14Mediastinal lymphadenopathy (HP:0100721)3.50894189
15Abnormality of macrophages (HP:0004311)3.44944815
16Nasal polyposis (HP:0100582)3.37420267
17Vasculitis (HP:0002633)3.29875324
18Recurrent gram-negative bacterial infections (HP:0005420)3.25007444
19Periodontitis (HP:0000704)3.24228341
20Hematochezia (HP:0002573)3.20080971
21Recurrent skin infections (HP:0001581)3.16474074
22Abnormality of the nasal mucosa (HP:0000433)3.10353905
23Recurrent bronchitis (HP:0002837)3.07047710
24Osteolytic defects of the hand bones (HP:0009699)3.02446791
25Osteolytic defects of the phalanges of the hand (HP:0009771)3.02446791
26Arterial thrombosis (HP:0004420)2.98273321
27Myocardial infarction (HP:0001658)2.96067041
28Recurrent cutaneous fungal infections (HP:0011370)2.90812378
29Chronic mucocutaneous candidiasis (HP:0002728)2.90812378
30Gingival bleeding (HP:0000225)2.90259644
31Gingivitis (HP:0000230)2.86921974
32Encephalitis (HP:0002383)2.86134820
33Colitis (HP:0002583)2.84976481
34Abnormality of the fingertips (HP:0001211)2.83050994
35Pulmonary infiltrates (HP:0002113)2.80686269
36Autoimmune hemolytic anemia (HP:0001890)2.79313300
37Prostate neoplasm (HP:0100787)2.79136142
38Basal ganglia calcification (HP:0002135)2.78781917
39Pustule (HP:0200039)2.78159388
40Porencephaly (HP:0002132)2.73208153
41Increased cerebral lipofuscin (HP:0011813)2.68496396
42Panhypogammaglobulinemia (HP:0003139)2.63379893
43Prolonged bleeding time (HP:0003010)2.59030218
44Absent frontal sinuses (HP:0002688)2.57791034
45Premature loss of primary teeth (HP:0006323)2.55739774
46Increased IgE level (HP:0003212)2.54581512
47Slow saccadic eye movements (HP:0000514)2.52215942
48Thick nail (HP:0001805)2.51925358
49Interstitial pulmonary disease (HP:0006530)2.48206403
50Emphysema (HP:0002097)2.47884893
51Stomatitis (HP:0010280)2.47539896
52Vacuolated lymphocytes (HP:0001922)2.42105958
53Frequent falls (HP:0002359)2.40378398
54Hypergammaglobulinemia (HP:0010702)2.39696191
55Subacute progressive viral hepatitis (HP:0006572)2.36407739
56Keratoconjunctivitis sicca (HP:0001097)2.35743561
57Cellulitis (HP:0100658)2.35708286
58Inflammation of the large intestine (HP:0002037)2.34792282
59Osteomyelitis (HP:0002754)2.34611810
60Viral hepatitis (HP:0006562)2.34606220
61Plagiocephaly (HP:0001357)2.32801669
62Increased neuronal autofluorescent lipopigment (HP:0002074)2.30988146
63Tetraparesis (HP:0002273)2.29889036
64Hemoptysis (HP:0002105)2.26890225
65Gastrointestinal inflammation (HP:0004386)2.24038977
66Leukocytosis (HP:0001974)2.22115022
67Abnormality of T cell number (HP:0011839)2.22107765
68Pulmonary embolism (HP:0002204)2.21997282
69Systemic lupus erythematosus (HP:0002725)2.19927011
70Chronic sinusitis (HP:0011109)2.19913770
71Eosinophilia (HP:0001880)2.17520010
72Keratoconjunctivitis (HP:0001096)2.16458112
73Abnormal delayed hypersensitivity skin test (HP:0002963)2.16321631
74Urticaria (HP:0001025)2.15851826
75T lymphocytopenia (HP:0005403)2.14378460
76Loss of speech (HP:0002371)2.13161494
77Abnormality of eosinophils (HP:0001879)2.12903482
78Abnormality of T cell physiology (HP:0011840)2.12524841
79Peritonitis (HP:0002586)2.08692753
80Lymphopenia (HP:0001888)2.08230727
81Esophageal varix (HP:0002040)2.07357636
82IgM deficiency (HP:0002850)2.07126504
83IgA deficiency (HP:0002720)2.06129542
84Chronic diarrhea (HP:0002028)2.05418946
85Abnormality of cells of the lymphoid lineage (HP:0012140)2.04629033
86Increased IgM level (HP:0003496)2.04168818
87Cerebral aneurysm (HP:0004944)2.04034627
88Abnormality of the peritoneum (HP:0002585)2.03139904
89Agammaglobulinemia (HP:0004432)2.02681610
90Spinal cord lesions (HP:0100561)2.02024250
91Syringomyelia (HP:0003396)2.02024250
92Mitral stenosis (HP:0001718)2.01498967
93Spontaneous hematomas (HP:0007420)2.00024517
94Gastrointestinal infarctions (HP:0005244)1.98433570
95Nephritis (HP:0000123)1.96803479
96Epistaxis (HP:0000421)1.95943461
97Bone pain (HP:0002653)1.94902036
98Meningitis (HP:0001287)1.93685591
99Abnormality of the endocardium (HP:0004306)1.91820851
100Abnormal platelet volume (HP:0011876)1.91258195
101Gangrene (HP:0100758)1.89025673
102Vertebral compression fractures (HP:0002953)1.87142424
103Chest pain (HP:0100749)1.86381790
104Skin ulcer (HP:0200042)1.85917890
105Pathologic fracture (HP:0002756)1.84786433
106Gastrointestinal stroma tumor (HP:0100723)1.84228004
107Restrictive lung disease (HP:0002091)1.83437158
108Abnormality of the vasculature of the conjunctiva (HP:0008054)1.83429477
109Acute hepatic failure (HP:0006554)1.83309054
110Verrucae (HP:0200043)1.83185194
111Papilloma (HP:0012740)1.83185194
112Joint swelling (HP:0001386)1.83085222
113Hypoplasia of the thymus (HP:0000778)1.82144124
114Conjunctival telangiectasia (HP:0000524)1.81972095
115Increased mean platelet volume (HP:0011877)1.81378220
116Abnormality of the pleura (HP:0002103)1.81368585
117Cheilitis (HP:0100825)1.80434292
118Broad face (HP:0000283)1.80304366
119Dislocated radial head (HP:0003083)1.77331570
120Malnutrition (HP:0004395)1.75761145
121Chronic obstructive pulmonary disease (HP:0006510)1.74494147
122Obstructive lung disease (HP:0006536)1.74494147
123Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.73861613
124Granulocytopenia (HP:0001913)1.73544232
125Persistence of primary teeth (HP:0006335)1.73103671
126Abnormality of T cells (HP:0002843)1.72369298
127Fatigue (HP:0012378)1.71954986
128Glomerulopathy (HP:0100820)1.71873566
129Large earlobe (HP:0009748)1.71768165
130Distal lower limb amyotrophy (HP:0008944)1.71523136
131Anorexia (HP:0002039)1.71519906
132IgG deficiency (HP:0004315)1.71033495
133Thrombocytosis (HP:0001894)1.70918559
134Ulnar bowing (HP:0003031)1.70382173
135Papilledema (HP:0001085)1.64778524

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TYK24.77437209
2MAP3K143.77355865
3IKBKE3.76111551
4JAK33.38706453
5JAK13.34064094
6TBK13.16189581
7FGFR42.89680775
8MAP3K132.77115934
9MAP4K12.71160641
10KIT2.67971447
11PRPF4B2.41898590
12IRAK32.20516682
13TTN2.17615317
14RIPK42.14704758
15CDK122.10400526
16IRAK42.10107424
17ERN12.01739840
18FGFR31.96122806
19IKBKB1.90540141
20BLK1.78849548
21EPHB11.71170855
22MAP3K101.57150764
23TAOK31.52637231
24CHUK1.48368708
25CSK1.44343302
26CAMK1D1.41306860
27CDC42BPA1.33147136
28PTK61.32618208
29HCK1.28578881
30STK101.27343049
31ZAP701.25124032
32MARK21.24052551
33TXK1.22836229
34EPHA31.22632976
35RIPK11.22453606
36JAK21.20025281
37TNK21.17116200
38CSF1R1.17077323
39LCK1.11570960
40SIK21.11353857
41TRIB31.06432581
42PKN21.05243292
43BMPR21.03430703
44MARK31.03139047
45SIK11.02572124
46SYK1.02152296
47PIK3CG0.97452451
48MAP3K10.96746061
49CAMK1G0.95928930
50WNK10.91168664
51SGK20.90279604
52BTK0.88639731
53TGFBR20.87743062
54TAOK10.86851752
55RPS6KA40.86772661
56TRPM70.85917431
57PIM10.84541815
58STK30.81703405
59FGR0.80281966
60FES0.78814478
61CAMKK20.78233929
62LRRK20.73668631
63MAP3K20.73371447
64NEK90.72491801
65STK40.72476974
66ITK0.72144372
67PTK2B0.71500512
68BMX0.70592760
69MAPK70.69756371
70EGFR0.69349343
71YES10.68619971
72MAP3K60.68451447
73EIF2AK20.68283798
74RET0.65807770
75CDK60.65088144
76GRK70.61836834
77STK380.60916681
78LYN0.60100076
79KSR20.59924448
80PDGFRB0.59772139
81BRD40.59578237
82MTOR0.59457316
83GRK60.58872663
84EEF2K0.58799246
85SMG10.57528582
86TEC0.55870543
87CAMKK10.55558334
88MAP2K30.53112006
89IRAK10.53067754
90MATK0.51958299
91MAPK120.51321658
92MAP3K50.50590341
93MAPK110.50204962
94PRKD20.49414029
95ICK0.49208706
96DAPK20.48853354
97ABL10.48322875
98FLT30.48104074
99SGK30.47600135
100FRK0.47223935
101ERBB20.45540479
102PRKCQ0.43838961
103TYRO30.43055270
104IRAK20.42030134
105CDK40.41821314
106SGK2230.41795588
107NLK0.41425826
108NUAK10.39408552
109ALK0.37220015
110PIM20.34967611
111ATR0.32829739
112PDGFRA0.32604691
113PDK10.32114523
114PRKAA20.31610986
115MAP3K30.31532661
116NEK20.30531817
117PKN10.30247479
118HIPK20.29495645
119MST1R0.29306696
120MAP3K70.28510360
121LATS10.28137212
122MELK0.27671830
123PDPK10.27037396
124MST40.25571147
125SCYL20.25537403
126RPS6KA50.25127946
127INSR0.24350406
128SGK10.24324931
129MAP3K80.24059683
130FYN0.21874586

Predicted pathways (KEGG)

RankGene SetZ-score
1Measles_Homo sapiens_hsa051622.90330969
2RIG-I-like receptor signaling pathway_Homo sapiens_hsa046222.89797640
3NF-kappa B signaling pathway_Homo sapiens_hsa040642.85407678
4Leishmaniasis_Homo sapiens_hsa051402.72072175
5Toll-like receptor signaling pathway_Homo sapiens_hsa046202.69646876
6Influenza A_Homo sapiens_hsa051642.57370196
7Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.36506033
8Osteoclast differentiation_Homo sapiens_hsa043802.30370370
9Herpes simplex infection_Homo sapiens_hsa051682.17625033
10NOD-like receptor signaling pathway_Homo sapiens_hsa046212.15426711
11Caffeine metabolism_Homo sapiens_hsa002322.11906724
12Staphylococcus aureus infection_Homo sapiens_hsa051502.09423720
13B cell receptor signaling pathway_Homo sapiens_hsa046622.03841062
14TNF signaling pathway_Homo sapiens_hsa046681.95401192
15Intestinal immune network for IgA production_Homo sapiens_hsa046721.90619203
16Hepatitis C_Homo sapiens_hsa051601.86925908
17Toxoplasmosis_Homo sapiens_hsa051451.85733147
18Allograft rejection_Homo sapiens_hsa053301.81639290
19Malaria_Homo sapiens_hsa051441.78684321
20Tuberculosis_Homo sapiens_hsa051521.73211070
21Primary immunodeficiency_Homo sapiens_hsa053401.69880801
22Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.62694004
23Legionellosis_Homo sapiens_hsa051341.61997591
24Antigen processing and presentation_Homo sapiens_hsa046121.61170936
25Pertussis_Homo sapiens_hsa051331.58732703
26Hepatitis B_Homo sapiens_hsa051611.56606785
27Graft-versus-host disease_Homo sapiens_hsa053321.55565258
28Apoptosis_Homo sapiens_hsa042101.50993839
29Jak-STAT signaling pathway_Homo sapiens_hsa046301.47766546
30Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.39381544
31Small cell lung cancer_Homo sapiens_hsa052221.30028854
32Viral myocarditis_Homo sapiens_hsa054161.28798048
33Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.23516027
34Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.23016348
35Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.21363285
36Chemokine signaling pathway_Homo sapiens_hsa040621.20261381
37Shigellosis_Homo sapiens_hsa051311.19800914
38Chronic myeloid leukemia_Homo sapiens_hsa052201.18990407
39T cell receptor signaling pathway_Homo sapiens_hsa046601.18878643
40Hematopoietic cell lineage_Homo sapiens_hsa046401.17774753
41Acute myeloid leukemia_Homo sapiens_hsa052211.16136291
42African trypanosomiasis_Homo sapiens_hsa051431.15426221
43AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.14965183
44Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.10419498
45Prolactin signaling pathway_Homo sapiens_hsa049171.04247654
46Leukocyte transendothelial migration_Homo sapiens_hsa046701.02367655
47Salmonella infection_Homo sapiens_hsa051321.01545729
48Renal cell carcinoma_Homo sapiens_hsa052110.99777104
49Pancreatic cancer_Homo sapiens_hsa052120.98703560
50Rheumatoid arthritis_Homo sapiens_hsa053230.96321477
51Lysosome_Homo sapiens_hsa041420.94440993
52Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.93554083
53Adipocytokine signaling pathway_Homo sapiens_hsa049200.92825251
54Lysine degradation_Homo sapiens_hsa003100.89026393
55Asthma_Homo sapiens_hsa053100.87779552
56Endometrial cancer_Homo sapiens_hsa052130.85971727
57Amoebiasis_Homo sapiens_hsa051460.85462324
58Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.83202613
59ABC transporters_Homo sapiens_hsa020100.82859507
60Viral carcinogenesis_Homo sapiens_hsa052030.82100279
61Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.79933946
62Insulin resistance_Homo sapiens_hsa049310.79866639
63Type II diabetes mellitus_Homo sapiens_hsa049300.78043105
64Phagosome_Homo sapiens_hsa041450.76918380
65Choline metabolism in cancer_Homo sapiens_hsa052310.75054300
66Glycosaminoglycan degradation_Homo sapiens_hsa005310.73992123
67Phospholipase D signaling pathway_Homo sapiens_hsa040720.73257304
68Notch signaling pathway_Homo sapiens_hsa043300.72847886
69Epstein-Barr virus infection_Homo sapiens_hsa051690.72331954
70Complement and coagulation cascades_Homo sapiens_hsa046100.71568685
71Autoimmune thyroid disease_Homo sapiens_hsa053200.71130476
72MicroRNAs in cancer_Homo sapiens_hsa052060.69284876
73Platelet activation_Homo sapiens_hsa046110.68909555
74Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.66088672
75Neurotrophin signaling pathway_Homo sapiens_hsa047220.65900638
76GnRH signaling pathway_Homo sapiens_hsa049120.65683913
77Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.65587655
78ErbB signaling pathway_Homo sapiens_hsa040120.63375953
79Transcriptional misregulation in cancer_Homo sapiens_hsa052020.61517878
80Glioma_Homo sapiens_hsa052140.61494354
81Type I diabetes mellitus_Homo sapiens_hsa049400.61195394
82HIF-1 signaling pathway_Homo sapiens_hsa040660.58142240
83Proteoglycans in cancer_Homo sapiens_hsa052050.58088128
84Colorectal cancer_Homo sapiens_hsa052100.57531688
85Carbohydrate digestion and absorption_Homo sapiens_hsa049730.56799716
86Dorso-ventral axis formation_Homo sapiens_hsa043200.55597833
87Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.55391023
88mTOR signaling pathway_Homo sapiens_hsa041500.55108897
89HTLV-I infection_Homo sapiens_hsa051660.53869949
90One carbon pool by folate_Homo sapiens_hsa006700.52479781
91Focal adhesion_Homo sapiens_hsa045100.48343929
92Longevity regulating pathway - mammal_Homo sapiens_hsa042110.48276784
93MAPK signaling pathway_Homo sapiens_hsa040100.47595835
94Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.47388264
95Regulation of actin cytoskeleton_Homo sapiens_hsa048100.46862065
96Endocytosis_Homo sapiens_hsa041440.46472153
97Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.44189409
98Other glycan degradation_Homo sapiens_hsa005110.43421639
99Renin-angiotensin system_Homo sapiens_hsa046140.39928664
100Phosphatidylinositol signaling system_Homo sapiens_hsa040700.39908692
101Prostate cancer_Homo sapiens_hsa052150.39483878
102Non-small cell lung cancer_Homo sapiens_hsa052230.38496045
103VEGF signaling pathway_Homo sapiens_hsa043700.37841129
104Inositol phosphate metabolism_Homo sapiens_hsa005620.37663558
105Sphingolipid signaling pathway_Homo sapiens_hsa040710.36323705
106FoxO signaling pathway_Homo sapiens_hsa040680.35150552
107Arginine biosynthesis_Homo sapiens_hsa002200.34681377
108Adherens junction_Homo sapiens_hsa045200.34428755
109Thyroid hormone signaling pathway_Homo sapiens_hsa049190.34110841
110p53 signaling pathway_Homo sapiens_hsa041150.31704928
111Systemic lupus erythematosus_Homo sapiens_hsa053220.29379669
112ECM-receptor interaction_Homo sapiens_hsa045120.29273943
113Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.25162226
114Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.24912574

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