RP2

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





Description: The RP2 locus has been implicated as one cause of X-linked retinitis pigmentosa. The predicted gene product shows homology with human cofactor C, a protein involved in the ultimate step of beta-tubulin folding. Progressive retinal degeneration may therefore be due to the accumulation of incorrectly-folded photoreceptor or neuron-specific tubulin isoforms followed by progressive cell death NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G6.70868712
2positive regulation by symbiont of host defense response (GO:0052509)5.51774459
3modulation by symbiont of host defense response (GO:0052031)5.51774459
4modulation by organism of immune response of other organism involved in symbiotic interaction (GO:005.51774459
5modulation by organism of defense response of other organism involved in symbiotic interaction (GO:05.51774459
6positive regulation by organism of defense response of other organism involved in symbiotic interact5.51774459
7modulation by symbiont of host immune response (GO:0052553)5.51774459
8neutrophil activation involved in immune response (GO:0002283)5.21088952
9negative regulation of interleukin-12 production (GO:0032695)5.00849765
10macrophage activation involved in immune response (GO:0002281)4.93621692
11regulation of interferon-beta biosynthetic process (GO:0045357)4.76850654
12detection of molecule of bacterial origin (GO:0032490)4.66082807
13response to peptidoglycan (GO:0032494)4.51777068
14microglial cell activation (GO:0001774)4.42624216
15respiratory burst (GO:0045730)4.24566936
16positive regulation of interferon-alpha production (GO:0032727)4.23728237
17negative regulation of leukocyte mediated cytotoxicity (GO:0001911)4.18846649
18negative regulation of cell killing (GO:0031342)4.18846649
19regulation of B cell receptor signaling pathway (GO:0050855)4.17588581
20immunoglobulin mediated immune response (GO:0016064)4.15090380
21detection of other organism (GO:0098543)4.14765028
22antigen processing and presentation of endogenous antigen (GO:0019883)4.07118955
23neutrophil activation (GO:0042119)4.02839424
24regulation of interferon-alpha production (GO:0032647)3.98900440
25granulocyte activation (GO:0036230)3.88210145
26detection of external biotic stimulus (GO:0098581)3.87960125
27response to host immune response (GO:0052572)3.86231101
28response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.86231101
29production of molecular mediator involved in inflammatory response (GO:0002532)3.73883085
30positive regulation of B cell differentiation (GO:0045579)3.72868838
31macrophage activation (GO:0042116)3.65759205
32myeloid cell activation involved in immune response (GO:0002275)3.65557072
33positive regulation of gamma-delta T cell activation (GO:0046645)3.60360711
34positive regulation of antigen processing and presentation (GO:0002579)3.59325992
35response to host (GO:0075136)3.58514500
36response to host defenses (GO:0052200)3.58514500
37response to defenses of other organism involved in symbiotic interaction (GO:0052173)3.58514500
38antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)3.57415496
39antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.57415496
40response to muramyl dipeptide (GO:0032495)3.57113401
41positive regulation of toll-like receptor signaling pathway (GO:0034123)3.54194815
42G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)3.53633677
43detection of bacterium (GO:0016045)3.53054418
44detection of biotic stimulus (GO:0009595)3.52251998
45regulation of B cell differentiation (GO:0045577)3.51716334
46B cell receptor signaling pathway (GO:0050853)3.44713452
47positive regulation of interleukin-8 biosynthetic process (GO:0045416)3.42629820
48positive regulation of interferon-beta production (GO:0032728)3.38996909
49cellular extravasation (GO:0045123)3.36216525
50lipopolysaccharide-mediated signaling pathway (GO:0031663)3.35301930
51negative regulation of B cell proliferation (GO:0030889)3.35226133
52regulation of nitric-oxide synthase biosynthetic process (GO:0051769)3.33409743
53cellular response to zinc ion (GO:0071294)3.30846301
54regulation of gamma-delta T cell activation (GO:0046643)3.30260250
55regulation of tumor necrosis factor biosynthetic process (GO:0042534)3.28667390
56negative regulation of interleukin-17 production (GO:0032700)3.27148704
57regulation of T-helper 1 cell differentiation (GO:0045625)3.26513013
58positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)3.23437069
59positive regulation of interleukin-1 beta secretion (GO:0050718)3.23042774
60regulation of interleukin-8 biosynthetic process (GO:0045414)3.22847691
61neutrophil mediated immunity (GO:0002446)3.19321470
62natural killer cell mediated immunity (GO:0002228)3.16809531
63natural killer cell mediated cytotoxicity (GO:0042267)3.16809531
64regulation of mast cell degranulation (GO:0043304)3.14845062
65myeloid leukocyte mediated immunity (GO:0002444)3.13438933
66response to protozoan (GO:0001562)3.13346903
67B cell mediated immunity (GO:0019724)3.12960019
68leukocyte aggregation (GO:0070486)3.12545440
69leukocyte mediated cytotoxicity (GO:0001909)3.11005406
70regulation of dendritic cell antigen processing and presentation (GO:0002604)3.10921005
71negative regulation of interleukin-1 production (GO:0032692)3.09783493
72regulation of antigen processing and presentation (GO:0002577)3.08515918
73negative regulation of T cell mediated immunity (GO:0002710)3.07250241
74regulation of interleukin-6 biosynthetic process (GO:0045408)3.07206404
75positive regulation of NF-kappaB import into nucleus (GO:0042346)3.06362838
76regulation of antigen processing and presentation of peptide antigen (GO:0002583)3.05148796
77negative regulation of phagocytosis (GO:0050765)3.04300817
78negative regulation of interleukin-1 beta production (GO:0032691)3.03772909
79germinal center formation (GO:0002467)3.02716921
80myeloid leukocyte activation (GO:0002274)3.01338308
81positive regulation of interleukin-1 secretion (GO:0050716)2.98325426
82interferon-gamma-mediated signaling pathway (GO:0060333)2.98302763
83negative regulation of interleukin-6 production (GO:0032715)2.97971012
84regulation of interleukin-1 beta secretion (GO:0050706)2.97426031
85regulation of mast cell activation (GO:0033003)2.96821974
86positive regulation of type 2 immune response (GO:0002830)2.95600649
87regulation of vitamin D biosynthetic process (GO:0060556)2.93953472
88interferon-gamma production (GO:0032609)2.93452854
89regulation of mast cell activation involved in immune response (GO:0033006)2.92683105
90positive regulation of interleukin-6 production (GO:0032755)2.92329970
91Arp2/3 complex-mediated actin nucleation (GO:0034314)2.91979881
92regulation of interleukin-12 production (GO:0032655)2.91692787
93hepatocyte apoptotic process (GO:0097284)2.89273084
94positive regulation of mast cell activation (GO:0033005)2.88970629
95negative regulation of lymphocyte mediated immunity (GO:0002707)2.88092520
96positive regulation of mast cell degranulation (GO:0043306)2.87219307
97positive regulation of mast cell activation involved in immune response (GO:0033008)2.87219307
98T-helper 1 type immune response (GO:0042088)2.87212225
99positive regulation of chemokine biosynthetic process (GO:0045080)2.87158971
100regulation of interleukin-17 production (GO:0032660)2.86964849
101positive regulation of chemokine production (GO:0032722)2.85532024
102dendritic cell migration (GO:0036336)2.85358058
103pinocytosis (GO:0006907)2.83398433
104regulation of syncytium formation by plasma membrane fusion (GO:0060142)2.82009138
105leukocyte degranulation (GO:0043299)2.81307591
106positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)2.80928999
107neutrophil chemotaxis (GO:0030593)2.80316300
108positive regulation of leukocyte degranulation (GO:0043302)2.79774253
109regulation of interleukin-6 production (GO:0032675)2.78659399
110positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)2.78053219
111regulation of interferon-beta production (GO:0032648)2.77610761
112regulation of RIG-I signaling pathway (GO:0039535)2.76836373
113tolerance induction (GO:0002507)2.74720357
114JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)2.74270353
115negative regulation of cytokine production involved in immune response (GO:0002719)2.73714700
116response to interleukin-15 (GO:0070672)2.73319065
117neutrophil migration (GO:1990266)2.72728524
118myeloid dendritic cell activation (GO:0001773)2.72303301
119B cell homeostasis (GO:0001782)2.71264151
120response to type I interferon (GO:0034340)2.70962037
121positive regulation of cellular amide metabolic process (GO:0034250)2.69838928
122defense response to protozoan (GO:0042832)2.68646536
123negative regulation of granulocyte differentiation (GO:0030853)2.68555511
124mast cell activation (GO:0045576)2.67037184
125type I interferon signaling pathway (GO:0060337)2.66570128
126cellular response to type I interferon (GO:0071357)2.66570128
127sequestering of metal ion (GO:0051238)2.65730199
128cellular response to interferon-beta (GO:0035458)2.65566740
129positive regulation of tumor necrosis factor superfamily cytokine production (GO:1903557)2.63667829
130superoxide anion generation (GO:0042554)2.63010955
131positive regulation of macrophage differentiation (GO:0045651)2.62685534
132purinergic nucleotide receptor signaling pathway (GO:0035590)2.62651119
133cytokine secretion (GO:0050663)2.62048303
134necroptotic process (GO:0070266)2.58671480
135positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)2.57399838
136NIK/NF-kappaB signaling (GO:0038061)2.56377000
137lymphocyte mediated immunity (GO:0002449)2.55286356
138regulation of leukocyte degranulation (GO:0043300)2.54983722
139positive regulation of interferon-gamma biosynthetic process (GO:0045078)2.53818571
140oligosaccharide catabolic process (GO:0009313)2.53682610
141regulation of interleukin-12 biosynthetic process (GO:0045075)2.53335192
142regulation of necroptotic process (GO:0060544)2.53125144
143positive regulation of tumor necrosis factor production (GO:0032760)2.52410354

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_22096565_ChIP-ChIP_GC-B_Human5.76844876
2IRF8_21731497_ChIP-ChIP_J774_Mouse5.46448452
3IRF8_27001747_Chip-Seq_BMDM_Mouse4.25731886
4BP1_19119308_ChIP-ChIP_Hs578T_Human4.12941653
5FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.99139325
6IRF8_22096565_ChIP-ChIP_GC-B_Mouse3.96943282
7SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse3.83878220
8MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.66858628
9EGR1_19374776_ChIP-ChIP_THP-1_Human3.43548410
10NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse3.41547270
11STAT3_20064451_ChIP-Seq_CD4+T_Mouse3.08320692
12SPI1_22096565_ChIP-ChIP_GC-B_Mouse3.03201757
13STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.02278923
14E2F7_22180533_ChIP-Seq_HELA_Human2.97948447
15MYB_21317192_ChIP-Seq_ERMYB_Mouse2.96823448
16SMAD_19615063_ChIP-ChIP_OVARY_Human2.89098471
17IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.77298131
18SCL_19346495_ChIP-Seq_HPC-7_Human2.65842501
19Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.62463780
20GATA1_22025678_ChIP-Seq_K562_Human2.53282074
21* SPI1_23547873_ChIP-Seq_NB4_Human2.52003009
22NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.40509249
23BRD4_27068464_Chip-Seq_AML-cells_Mouse2.37218946
24STAT4_19710469_ChIP-ChIP_TH1__Mouse2.19605981
25FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.15969329
26MYB_26560356_Chip-Seq_TH2_Human2.11191123
27NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.09087904
28ASXL1_24218140_ChIP-Seq_BMDM_Mouse2.08432728
29RUNX_20019798_ChIP-Seq_JUKART_Human2.03250254
30SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.99855989
31VDR_24763502_ChIP-Seq_THP-1_Human1.92775317
32PU_27001747_Chip-Seq_BMDM_Mouse1.90361491
33RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.88440613
34STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.88433121
35FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.87883873
36RUNX1_22412390_ChIP-Seq_EML_Mouse1.84350044
37FOXM1_23109430_ChIP-Seq_U2OS_Human1.77783370
38RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.67458570
39STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.67373140
40* SPI1_23127762_ChIP-Seq_K562_Human1.65382980
41MYB_26560356_Chip-Seq_TH1_Human1.60186892
42GATA3_27048872_Chip-Seq_THYMUS_Human1.56291303
43FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.52884643
44MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.52413281
45PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.50172152
46VDR_21846776_ChIP-Seq_THP-1_Human1.49897740
47PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.49838406
48MAF_26560356_Chip-Seq_TH1_Human1.48482097
49VDR_24787735_ChIP-Seq_THP-1_Human1.47882788
50SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.43754451
51LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.35621886
52HOXB4_20404135_ChIP-ChIP_EML_Mouse1.33626243
53GATA2_22383799_ChIP-Seq_G1ME_Mouse1.33481216
54CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.30708934
55MYC_22102868_ChIP-Seq_BL_Human1.26367310
56ERG_20887958_ChIP-Seq_HPC-7_Mouse1.26291367
57CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.23907554
58GATA3_26560356_Chip-Seq_TH2_Human1.23749446
59E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.21547515
60IGF1R_20145208_ChIP-Seq_DFB_Human1.21517411
61LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.19758140
62VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.18744754
63TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.18084443
64CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.17577804
65GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.14421257
66UTX_26944678_Chip-Seq_JUKART_Human1.11654210
67RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.07428590
68ELF1_17652178_ChIP-ChIP_JURKAT_Human1.06122539
69E2F4_17652178_ChIP-ChIP_JURKAT_Human1.04658815
70NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.04323164
71NOTCH1_21737748_ChIP-Seq_TLL_Human1.04126748
72GATA1_22383799_ChIP-Seq_G1ME_Mouse1.03336493
73CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.03085197
74TFEB_21752829_ChIP-Seq_HELA_Human1.02965211
75CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.01123094
76TCF7_22412390_ChIP-Seq_EML_Mouse1.00799770
77TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.00649672
78FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.97141262
79GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.94650297
80SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.91709093
81BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.91450203
82PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.90200107
83JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.89030752
84ELK1_19687146_ChIP-ChIP_HELA_Human0.88795269
85GATA1_19941827_ChIP-Seq_MEL_Mouse0.87998146
86JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.87919600
87SALL4_18804426_ChIP-ChIP_XEN_Mouse0.87493396
88E2F1_21310950_ChIP-Seq_MCF-7_Human0.87232750
89CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.86337690
90NRF2_20460467_ChIP-Seq_MEFs_Mouse0.85345691
91NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.85345691
92SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.83991040
93WT1_19549856_ChIP-ChIP_CCG9911_Human0.83367370
94CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.82874332
95PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.82652432
96SMAD4_19686287_ChIP-ChIP_HaCaT_Human0.80430842
97FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.79111576
98CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse0.79053569
99GATA2_19941826_ChIP-Seq_K562_Human0.78254565
100CDX2_20551321_ChIP-Seq_CACO-2_Human0.76181840
101FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human0.75931295
102ETS1_22383799_ChIP-Seq_G1ME_Mouse0.75443419
103TP53_16413492_ChIP-PET_HCT116_Human0.74902039
104CDX2_19796622_ChIP-Seq_MESCs_Mouse0.74896390
105FLI1_27457419_Chip-Seq_LIVER_Mouse0.74729964
106CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.73069922
107SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.72931018
108SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.72931018
109SOX2_20726797_ChIP-Seq_SW620_Human0.71202189
110POU3F2_20337985_ChIP-ChIP_501MEL_Human0.70797418
111* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.70751936
112EZH2_27294783_Chip-Seq_NPCs_Mouse0.70578262
113SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.70356136
114GATA1_19941826_ChIP-Seq_K562_Human0.69724294
115GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.69630811
116EGR1_23403033_ChIP-Seq_LIVER_Mouse0.69319641
117SUZ12_27294783_Chip-Seq_NPCs_Mouse0.69262226
118GATA2_21666600_ChIP-Seq_HMVEC_Human0.68234639
119SALL4_22934838_ChIP-ChIP_CD34+_Human0.67805582
120SOX2_27498859_Chip-Seq_STOMACH_Mouse0.67571532
121BRD4_25478319_ChIP-Seq_HGPS_Human0.66820995
122SMRT_27268052_Chip-Seq_Bcells_Human0.66312869
123VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human0.66181316
124* TP63_23658742_ChIP-Seq_EP156T_Human0.64465493

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001835_abnormal_antigen_presentation4.57465046
2MP0005058_abnormal_lysosome_morphology3.17538638
3MP0003436_decreased_susceptibility_to3.12686487
4MP0002419_abnormal_innate_immunity2.99808601
5MP0003303_peritoneal_inflammation2.93747389
6MP0002148_abnormal_hypersensitivity_rea2.83280638
7MP0005000_abnormal_immune_tolerance2.79149825
8MP0009785_altered_susceptibility_to2.71972240
9MP0002452_abnormal_antigen_presenting2.69721888
10MP0001800_abnormal_humoral_immune2.59485315
11MP0005387_immune_system_phenotype2.57132047
12MP0001790_abnormal_immune_system2.57132047
13MP0003183_abnormal_peptide_metabolism2.53232976
14MP0005025_abnormal_response_to2.52506594
15MP0005671_abnormal_response_to2.51688290
16MP0006082_CNS_inflammation2.41673231
17MP0002723_abnormal_immune_serum2.39544919
18MP0000685_abnormal_immune_system2.29956612
19MP0003300_gastrointestinal_ulcer2.28268141
20MP0002166_altered_tumor_susceptibility2.28027449
21MP0001819_abnormal_immune_cell2.26535602
22MP0002420_abnormal_adaptive_immunity2.26334187
23MP0005464_abnormal_platelet_physiology2.06642248
24MP0002006_tumorigenesis2.02452562
25MP0003724_increased_susceptibility_to1.94933158
26MP0010155_abnormal_intestine_physiology1.89648997
27MP0003172_abnormal_lysosome_physiology1.88669083
28MP0003191_abnormal_cellular_cholesterol1.87809272
29MP0002405_respiratory_system_inflammati1.85644435
30MP0001845_abnormal_inflammatory_respons1.82827290
31MP0000569_abnormal_digit_pigmentation1.75588707
32MP0000716_abnormal_immune_system1.70937853
33MP0001533_abnormal_skeleton_physiology1.69398035
34MP0002396_abnormal_hematopoietic_system1.68394707
35MP0001853_heart_inflammation1.67248847
36MP0002398_abnormal_bone_marrow1.65677546
37MP0005174_abnormal_tail_pigmentation1.58833105
38MP0008004_abnormal_stomach_pH1.52817584
39MP0003656_abnormal_erythrocyte_physiolo1.51037961
40MP0009764_decreased_sensitivity_to1.49860393
41MP0006054_spinal_hemorrhage1.49018159
42MP0000343_altered_response_to1.47527929
43MP0000689_abnormal_spleen_morphology1.46890226
44MP0004883_abnormal_blood_vessel1.46781992
45MP0009333_abnormal_splenocyte_physiolog1.45282150
46MP0008469_abnormal_protein_level1.43289861
47MP0004782_abnormal_surfactant_physiolog1.42599848
48MP0004947_skin_inflammation1.42041009
49MP0005451_abnormal_body_composition1.41883874
50MP0005310_abnormal_salivary_gland1.41536360
51MP0002429_abnormal_blood_cell1.40729127
52MP0001873_stomach_inflammation1.40124501
53MP0000465_gastrointestinal_hemorrhage1.37147022
54MP0002877_abnormal_melanocyte_morpholog1.35816213
55MP0000858_altered_metastatic_potential1.34870057
56MP0002722_abnormal_immune_system1.34129184
57MP0008260_abnormal_autophagy1.33809034
58MP0002138_abnormal_hepatobiliary_system1.33260718
59MP0002277_abnormal_respiratory_mucosa1.31237006
60MP0000490_abnormal_crypts_of1.29898248
61MP0010352_gastrointestinal_tract_polyps1.27837032
62MP0003763_abnormal_thymus_physiology1.27353223
63MP0003075_altered_response_to1.22131998
64MP0004808_abnormal_hematopoietic_stem1.22129936
65MP0001851_eye_inflammation1.20154668
66MP0003448_altered_tumor_morphology1.17494354
67MP0005167_abnormal_blood-brain_barrier1.15375099
68MP0003866_abnormal_defecation1.14260889
69MP0005166_decreased_susceptibility_to1.12433219
70MP0002998_abnormal_bone_remodeling1.10389022
71MP0002332_abnormal_exercise_endurance1.10317070
72MP0009278_abnormal_bone_marrow1.06973623
73MP0005397_hematopoietic_system_phenotyp1.05544878
74MP0001545_abnormal_hematopoietic_system1.05544878
75MP0000604_amyloidosis1.04829338
76MP0000015_abnormal_ear_pigmentation1.01627158
77MP0010307_abnormal_tumor_latency0.98047242
78MP0004264_abnormal_extraembryonic_tissu0.96586281
79MP0003195_calcinosis0.95894381
80MP0002933_joint_inflammation0.95576153
81MP0002009_preneoplasia0.94133117
82MP0002693_abnormal_pancreas_physiology0.91808419
83MP0009765_abnormal_xenobiotic_induced0.90658159
84MP0005257_abnormal_intraocular_pressure0.90596861
85MP0003828_pulmonary_edema0.90274423
86MP0003091_abnormal_cell_migration0.90272131
87MP0002928_abnormal_bile_duct0.89025784
88MP0003795_abnormal_bone_structure0.86592696
89MP0003693_abnormal_embryo_hatching0.86139107
90MP0003221_abnormal_cardiomyocyte_apopto0.85238736
91MP0000703_abnormal_thymus_morphology0.83867314
92MP0005390_skeleton_phenotype0.83565263
93MP0005076_abnormal_cell_differentiation0.79889877
94MP0000249_abnormal_blood_vessel0.78075925
95MP0005645_abnormal_hypothalamus_physiol0.77842186
96MP0008007_abnormal_cellular_replicative0.77212821
97MP0000371_diluted_coat_color0.77137880
98MP0009763_increased_sensitivity_to0.77131651
99MP0003045_fibrosis0.77003076
100MP0004510_myositis0.76780907
101MP0001915_intracranial_hemorrhage0.71839507
102MP0002095_abnormal_skin_pigmentation0.71178474
103MP0003566_abnormal_cell_adhesion0.70324238
104MP0005075_abnormal_melanosome_morpholog0.67774970
105MP0001663_abnormal_digestive_system0.67575065
106MP0002019_abnormal_tumor_incidence0.65447794
107MP0003690_abnormal_glial_cell0.65214044
108MP0002136_abnormal_kidney_physiology0.65137702
109MP0005319_abnormal_enzyme/_coenzyme0.64388884
110MP0000767_abnormal_smooth_muscle0.64015298
111MP0001542_abnormal_bone_strength0.63220242
112MP0009840_abnormal_foam_cell0.63022601
113MP0005084_abnormal_gallbladder_morpholo0.62673173
114MP0005164_abnormal_response_to0.60811571
115MP0003453_abnormal_keratinocyte_physiol0.60215645
116MP0003806_abnormal_nucleotide_metabolis0.58439595
117MP0002132_abnormal_respiratory_system0.57282074
118MP0005376_homeostasis/metabolism_phenot0.54281048
119MP0004484_altered_response_of0.52290872
120MP0005165_increased_susceptibility_to0.51875583
121MP0001958_emphysema0.51703540

Predicted human phenotypes

RankGene SetZ-score
1Recurrent abscess formation (HP:0002722)6.42181801
2Recurrent bacterial skin infections (HP:0005406)5.87891511
3Eczematoid dermatitis (HP:0000976)5.65968448
4Vacuolated lymphocytes (HP:0001922)4.78671089
5Recurrent gram-negative bacterial infections (HP:0005420)4.62220172
6Recurrent viral infections (HP:0004429)4.08050236
7Keratoconjunctivitis sicca (HP:0001097)4.06435764
8Keratoconjunctivitis (HP:0001096)3.89076098
9Abnormality of macrophages (HP:0004311)3.81580538
10Recurrent fungal infections (HP:0002841)3.77270090
11Recurrent skin infections (HP:0001581)3.72765809
12Mediastinal lymphadenopathy (HP:0100721)3.69786375
13Gingivitis (HP:0000230)3.56567888
14Systemic lupus erythematosus (HP:0002725)3.52385344
15Encephalitis (HP:0002383)3.42826417
16Dysostosis multiplex (HP:0000943)3.41975709
17Cellulitis (HP:0100658)3.34403956
18IgM deficiency (HP:0002850)3.32131674
19Increased cerebral lipofuscin (HP:0011813)3.28450498
20Chronic obstructive pulmonary disease (HP:0006510)3.25343189
21Obstructive lung disease (HP:0006536)3.25343189
22Hemoptysis (HP:0002105)3.22776815
23Increased neuronal autofluorescent lipopigment (HP:0002074)3.18982990
24Myositis (HP:0100614)3.18400773
25Periodontitis (HP:0000704)3.12846020
26Abnormality of glycolipid metabolism (HP:0010969)3.10112606
27Abnormality of liposaccharide metabolism (HP:0010968)3.10112606
28Abnormality of glycosphingolipid metabolism (HP:0004343)3.10112606
29Elevated erythrocyte sedimentation rate (HP:0003565)3.09490312
30Spontaneous hematomas (HP:0007420)3.05129358
31Gastrointestinal infarctions (HP:0005244)3.00899287
32Meningitis (HP:0001287)3.00096841
33Glomerulonephritis (HP:0000099)2.99198478
34Hematochezia (HP:0002573)2.98316035
35Disinhibition (HP:0000734)2.96919870
36Recurrent cutaneous fungal infections (HP:0011370)2.92845812
37Chronic mucocutaneous candidiasis (HP:0002728)2.92845812
38Vasculitis (HP:0002633)2.87504332
39Inflammation of the large intestine (HP:0002037)2.82358048
40Colitis (HP:0002583)2.80882204
41Autoimmune thrombocytopenia (HP:0001973)2.80492060
42Amyloidosis (HP:0011034)2.80066929
43Gangrene (HP:0100758)2.78648892
44Osteomyelitis (HP:0002754)2.77728609
45Recurrent pneumonia (HP:0006532)2.77203235
46Basal ganglia calcification (HP:0002135)2.75534596
47Episodic fever (HP:0001954)2.74233509
48Mucopolysacchariduria (HP:0008155)2.69369731
49Urinary glycosaminoglycan excretion (HP:0003541)2.69369731
50Gastrointestinal inflammation (HP:0004386)2.68609044
51Loss of speech (HP:0002371)2.68032610
52Thrombocytosis (HP:0001894)2.67888320
53Abnormality of T cell physiology (HP:0011840)2.66574588
54Abnormal delayed hypersensitivity skin test (HP:0002963)2.64133302
55Agnosia (HP:0010524)2.63654389
56Interstitial pulmonary disease (HP:0006530)2.60154285
57Chronic otitis media (HP:0000389)2.58709470
58Increased IgM level (HP:0003496)2.58502374
59Chest pain (HP:0100749)2.56324766
60Chronic diarrhea (HP:0002028)2.54461355
61Peritonitis (HP:0002586)2.52784708
62Agammaglobulinemia (HP:0004432)2.51563592
63Anorexia (HP:0002039)2.49293154
64Pustule (HP:0200039)2.47276659
65Abnormality of mucopolysaccharide metabolism (HP:0011020)2.45322647
66Abnormality of polysaccharide metabolism (HP:0011012)2.45322647
67Abnormality of glycosaminoglycan metabolism (HP:0004371)2.45322647
68Orchitis (HP:0100796)2.44967022
69Polyneuropathy (HP:0001271)2.42193606
70Osteolytic defects of the phalanges of the hand (HP:0009771)2.38750599
71Osteolytic defects of the hand bones (HP:0009699)2.38750599
72Recurrent lower respiratory tract infections (HP:0002783)2.38635946
73Recurrent bronchitis (HP:0002837)2.37299630
74Abnormality of the pleura (HP:0002103)2.36642494
75Pulmonary embolism (HP:0002204)2.35584010
76Spondylolisthesis (HP:0003302)2.33675366
77Prostate neoplasm (HP:0100787)2.31639223
78Recurrent sinusitis (HP:0011108)2.31447194
79Keratitis (HP:0000491)2.29254266
80Hepatosplenomegaly (HP:0001433)2.28990374
81Poor head control (HP:0002421)2.27803600
82Pulmonary infiltrates (HP:0002113)2.24050739
83Gastrointestinal stroma tumor (HP:0100723)2.23001695
84Leukocytosis (HP:0001974)2.21439770
85Urticaria (HP:0001025)2.18201720
86Eosinophilia (HP:0001880)2.17918581
87Optic neuritis (HP:0100653)2.17848496
88Retrobulbar optic neuritis (HP:0100654)2.17848496
89Vertigo (HP:0002321)2.17577556
90Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.15579672
91Glomerulopathy (HP:0100820)2.14264627
92Abnormality of the endocardium (HP:0004306)2.12251219
93Abnormality of T cells (HP:0002843)2.10624988
94Amaurosis fugax (HP:0100576)2.08783931
95Thyroiditis (HP:0100646)2.08058437
96Hypergammaglobulinemia (HP:0010702)2.07773239
97Autoimmune hemolytic anemia (HP:0001890)2.07503156
98Cheilitis (HP:0100825)2.06013042
99Panhypogammaglobulinemia (HP:0003139)2.05716652
100Axonal loss (HP:0003447)2.04612774
101Abnormality of B cell number (HP:0010975)2.03786734
102Stomatitis (HP:0010280)2.03516739
103Petechiae (HP:0000967)2.03233982
104Stomach cancer (HP:0012126)2.01463810
105Abnormality of the vasculature of the conjunctiva (HP:0008054)2.00768353
106Abnormality of the pericardium (HP:0001697)1.99283823
107Sepsis (HP:0100806)1.99170387
108Abnormality of the prostate (HP:0008775)1.98045493
109Increased CSF protein (HP:0002922)1.97994326
110Joint swelling (HP:0001386)1.96475315
111Lymphopenia (HP:0001888)1.96038772
112Granulocytopenia (HP:0001913)1.95588612
113Prolonged bleeding time (HP:0003010)1.95450097
114Arterial thrombosis (HP:0004420)1.93339379
115Nephritis (HP:0000123)1.93110822
116Abnormality of cells of the lymphoid lineage (HP:0012140)1.91118722
117Skin ulcer (HP:0200042)1.90519146
118Subacute progressive viral hepatitis (HP:0006572)1.89803259
119Increased density of long bones (HP:0006392)1.88963596
120Nasal polyposis (HP:0100582)1.87443866
121IgA deficiency (HP:0002720)1.87272063
122T lymphocytopenia (HP:0005403)1.86981509
123Abnormality of T cell number (HP:0011839)1.86494444
124Abnormality of eosinophils (HP:0001879)1.86179319
125Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)1.85650747
126Myocardial infarction (HP:0001658)1.85216625
127Abnormal platelet volume (HP:0011876)1.83691861
128Gingival bleeding (HP:0000225)1.83497916
129Premature loss of primary teeth (HP:0006323)1.83310361
130Thrombophlebitis (HP:0004418)1.82483946
131Epistaxis (HP:0000421)1.81091614
132Viral hepatitis (HP:0006562)1.81046227
133Urethral obstruction (HP:0000796)1.80411027
134B lymphocytopenia (HP:0010976)1.79731500

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BLK3.61755735
2MAP3K143.06013475
3IRAK42.94741956
4MAP4K12.80920009
5RIPK42.76903904
6TGFBR22.52006920
7TYK22.50137437
8KIT2.38867903
9BMPR22.35277158
10TBK12.24260747
11IRAK32.21355799
12MAPK152.16876287
13CSF1R2.05869032
14STK101.95707986
15JAK31.94538180
16BTK1.78843823
17CSK1.78349575
18TXK1.75907250
19SCYL21.74192725
20IKBKB1.73580076
21MAP3K101.70034195
22CAMK1D1.67525040
23ZAP701.66735642
24FRK1.63055061
25NEK91.62104133
26JAK11.58500940
27TEC1.58465800
28TAOK31.52898063
29ERN11.51722407
30FLT31.51283953
31MAP3K31.49465753
32RPS6KA41.44834502
33MATK1.43740339
34IRAK21.42974571
35SYK1.41665006
36GRK71.33985445
37LYN1.31299595
38YES11.30346104
39IKBKE1.29213460
40BMPR1B1.29065842
41MST41.27934167
42CLK11.23251828
43TRPM71.19568614
44EEF2K1.18051603
45CHUK1.17788483
46MOS1.17502049
47MAP2K31.13759997
48ITK1.12893734
49LCK1.10155544
50PRPF4B1.07482429
51NUAK11.01719483
52HCK1.00884280
53FGFR30.96235853
54PIM10.94104360
55VRK10.92353339
56ACVR1B0.91229817
57HIPK20.86603604
58PRKAA20.81655144
59JAK20.80955953
60MARK30.80936582
61PTK60.79163260
62LRRK20.78456365
63TAOK20.78367242
64MAP3K10.77754371
65INSRR0.76612507
66MAP3K50.76497737
67SIK30.75844561
68CDK60.75692251
69EIF2AK30.75636044
70GRK60.74795091
71MAP3K130.74607324
72EPHA30.73786210
73RIPK10.73755550
74ZAK0.73379753
75PIK3CG0.73256442
76CAMKK20.73242774
77PDK20.72736696
78PTK2B0.72363364
79TAOK10.71939906
80MAP3K110.71224366
81CAMK1G0.71205983
82MAPKAPK20.69359057
83NLK0.68086761
84STK40.65962008
85PIM20.65833645
86MAP3K60.65831301
87STK30.62658483
88TESK20.60862042
89BRSK20.58963350
90FES0.58725739
91TESK10.58699604
92STK240.57924789
93ADRBK20.57549978
94EIF2AK20.55168943
95EGFR0.54444645
96MAP3K20.53804019
97EPHB10.53243259
98MAPK70.53126554
99TNK20.52777508
100KSR20.52605984
101ABL10.49203248
102PRKCD0.47925921
103DYRK30.46926045
104FGR0.46018913
105PASK0.45277051
106PRKCQ0.45047166
107RPS6KA50.44947448
108RPS6KA20.44763999
109IRAK10.44419624
110PDK10.44287759
111RPS6KA60.43999369
112KSR10.43773116
113ERBB30.43175559
114CDK80.42707140
115MAPKAPK30.41985263
116MAP2K20.39215927
117RPS6KL10.38346834
118RPS6KC10.38346834
119PDGFRB0.37103033
120PAK40.36523609
121FYN0.31123435
122TGFBR10.30919764
123IGF1R0.30907106
124MAP2K40.29830543
125CDK90.29689998
126MAP4K20.29524453
127INSR0.27956563
128FER0.26118584

Predicted pathways (KEGG)

RankGene SetZ-score
1Leishmaniasis_Homo sapiens_hsa051403.19547646
2Other glycan degradation_Homo sapiens_hsa005112.80094504
3NF-kappa B signaling pathway_Homo sapiens_hsa040642.49808275
4Osteoclast differentiation_Homo sapiens_hsa043802.44226366
5Staphylococcus aureus infection_Homo sapiens_hsa051502.39372934
6Toll-like receptor signaling pathway_Homo sapiens_hsa046202.33262543
7Glycosaminoglycan degradation_Homo sapiens_hsa005312.31407447
8Legionellosis_Homo sapiens_hsa051342.29387950
9Pertussis_Homo sapiens_hsa051332.15051859
10B cell receptor signaling pathway_Homo sapiens_hsa046622.14962317
11Antigen processing and presentation_Homo sapiens_hsa046122.11110665
12NOD-like receptor signaling pathway_Homo sapiens_hsa046212.07261924
13Lysosome_Homo sapiens_hsa041422.00469755
14Tuberculosis_Homo sapiens_hsa051521.95500370
15Hematopoietic cell lineage_Homo sapiens_hsa046401.84857320
16Measles_Homo sapiens_hsa051621.81478626
17RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.80021545
18Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.74782699
19Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.73476394
20Intestinal immune network for IgA production_Homo sapiens_hsa046721.70485766
21Graft-versus-host disease_Homo sapiens_hsa053321.61150402
22Toxoplasmosis_Homo sapiens_hsa051451.60474438
23Primary immunodeficiency_Homo sapiens_hsa053401.56328369
24Influenza A_Homo sapiens_hsa051641.55987094
25Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.49129458
26Herpes simplex infection_Homo sapiens_hsa051681.48678332
27TNF signaling pathway_Homo sapiens_hsa046681.46300599
28Malaria_Homo sapiens_hsa051441.45874015
29Salmonella infection_Homo sapiens_hsa051321.45020881
30Phagosome_Homo sapiens_hsa041451.44254016
31Apoptosis_Homo sapiens_hsa042101.34419946
32Shigellosis_Homo sapiens_hsa051311.33021039
33Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.31710332
34Hepatitis B_Homo sapiens_hsa051611.28013322
35Chemokine signaling pathway_Homo sapiens_hsa040621.24201703
36Leukocyte transendothelial migration_Homo sapiens_hsa046701.18888062
37Rheumatoid arthritis_Homo sapiens_hsa053231.18468221
38Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.14943596
39Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.11078355
40Jak-STAT signaling pathway_Homo sapiens_hsa046301.10927424
41Transcriptional misregulation in cancer_Homo sapiens_hsa052021.09325100
42Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.08667386
43Allograft rejection_Homo sapiens_hsa053301.07948830
44Protein export_Homo sapiens_hsa030601.07263710
45Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.05871702
46Dorso-ventral axis formation_Homo sapiens_hsa043201.01963076
47Pancreatic cancer_Homo sapiens_hsa052120.99928282
48Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.99060399
49Type I diabetes mellitus_Homo sapiens_hsa049400.98751752
50Non-homologous end-joining_Homo sapiens_hsa034500.97511627
51Chronic myeloid leukemia_Homo sapiens_hsa052200.96726411
52Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.96593018
53Maturity onset diabetes of the young_Homo sapiens_hsa049500.94464006
54Viral carcinogenesis_Homo sapiens_hsa052030.92571519
55Asthma_Homo sapiens_hsa053100.90680654
56Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.90525753
57N-Glycan biosynthesis_Homo sapiens_hsa005100.88031113
58Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.87545361
59Hepatitis C_Homo sapiens_hsa051600.87353824
60Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.85971798
61Renin-angiotensin system_Homo sapiens_hsa046140.85839884
62AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.85076711
63Systemic lupus erythematosus_Homo sapiens_hsa053220.84537436
64Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.83027970
65Platelet activation_Homo sapiens_hsa046110.82964769
66T cell receptor signaling pathway_Homo sapiens_hsa046600.82319734
67Small cell lung cancer_Homo sapiens_hsa052220.81992053
68Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.78355945
69Acute myeloid leukemia_Homo sapiens_hsa052210.78156339
70Sphingolipid metabolism_Homo sapiens_hsa006000.76300525
71African trypanosomiasis_Homo sapiens_hsa051430.69083142
72Epstein-Barr virus infection_Homo sapiens_hsa051690.65046593
73Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.61296119
74Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.60957675
75Viral myocarditis_Homo sapiens_hsa054160.57754950
76Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.57568123
77Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.57535187
78Carbohydrate digestion and absorption_Homo sapiens_hsa049730.56269976
79Pentose and glucuronate interconversions_Homo sapiens_hsa000400.55889225
80Amoebiasis_Homo sapiens_hsa051460.54852898
81HTLV-I infection_Homo sapiens_hsa051660.52229886
82Renal cell carcinoma_Homo sapiens_hsa052110.51426762
83SNARE interactions in vesicular transport_Homo sapiens_hsa041300.51079914
84ABC transporters_Homo sapiens_hsa020100.50722834
85Bladder cancer_Homo sapiens_hsa052190.50117891
86Collecting duct acid secretion_Homo sapiens_hsa049660.49149364
87Non-small cell lung cancer_Homo sapiens_hsa052230.48467092
88Neurotrophin signaling pathway_Homo sapiens_hsa047220.45647144
89Mineral absorption_Homo sapiens_hsa049780.43784164
90Prostate cancer_Homo sapiens_hsa052150.43542304
91Prolactin signaling pathway_Homo sapiens_hsa049170.43197431
92Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.41412958
93p53 signaling pathway_Homo sapiens_hsa041150.40936471
94VEGF signaling pathway_Homo sapiens_hsa043700.40337242
95Adipocytokine signaling pathway_Homo sapiens_hsa049200.40060429
96HIF-1 signaling pathway_Homo sapiens_hsa040660.39720738
97FoxO signaling pathway_Homo sapiens_hsa040680.38781886
98Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.37015448
99Colorectal cancer_Homo sapiens_hsa052100.36314840
100Sphingolipid signaling pathway_Homo sapiens_hsa040710.36227403
101Homologous recombination_Homo sapiens_hsa034400.35848972
102Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.35500621
103Endocytosis_Homo sapiens_hsa041440.35315971
104MicroRNAs in cancer_Homo sapiens_hsa052060.34151523
105Ether lipid metabolism_Homo sapiens_hsa005650.33936554
106Adherens junction_Homo sapiens_hsa045200.33239536
107Notch signaling pathway_Homo sapiens_hsa043300.33042255
108Insulin resistance_Homo sapiens_hsa049310.32395274
109Autoimmune thyroid disease_Homo sapiens_hsa053200.31696086
110Sulfur metabolism_Homo sapiens_hsa009200.31417013
111Regulation of autophagy_Homo sapiens_hsa041400.31289788
112Complement and coagulation cascades_Homo sapiens_hsa046100.30805676
113Type II diabetes mellitus_Homo sapiens_hsa049300.30296311
114MAPK signaling pathway_Homo sapiens_hsa040100.24333487
115Phospholipase D signaling pathway_Homo sapiens_hsa040720.19371172
116Regulation of actin cytoskeleton_Homo sapiens_hsa048100.18470548
117Endometrial cancer_Homo sapiens_hsa052130.12807276
118Rap1 signaling pathway_Homo sapiens_hsa040150.11246667

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