RAB8A

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 protein encoded by this gene is a member of the RAS superfamily which are small GTP/GDP-binding proteins with an average size of 200 amino acids. The RAS-related proteins of the RAB/YPT family may play a role in the transport of proteins from the endoplasmic reticulum to the Golgi and the plasma membrane. This protein shares 97%, 96%, and 51% similarity with the dog RAB8, mouse MEL, and mouse YPT1 proteins, respectively and contains the 4 GTP/GDP-binding sites that are present in all the RAS proteins. The putative effector-binding site of this protein is similar to that of the RAB/YPT proteins. However, this protein contains a C-terminal CAAX motif that is characteristic of many RAS superfamily members but which is not found in YPT1 and the majority of RAB proteins. Although this gene was isolated as a transforming gene from a melanoma cell line, no linkage between MEL and malignant melanoma has been demonstrable. This oncogene is located 800 kb distal to MY09B on chromosome 19p13.1. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1antigen processing and presentation of endogenous peptide antigen (GO:0002483)4.62295006
2antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)4.62295006
3antigen processing and presentation of endogenous antigen (GO:0019883)4.39824616
4positive regulation of gamma-delta T cell activation (GO:0046645)3.76160750
5Arp2/3 complex-mediated actin nucleation (GO:0034314)3.67554598
6leukocyte aggregation (GO:0070486)3.38561951
7negative T cell selection (GO:0043383)3.36131540
8ribosomal small subunit assembly (GO:0000028)3.33311190
9negative thymic T cell selection (GO:0045060)3.33291038
10cytidine deamination (GO:0009972)3.21537304
11cytidine metabolic process (GO:0046087)3.21537304
12cytidine catabolic process (GO:0006216)3.21537304
13positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.19045543
14negative regulation of cell killing (GO:0031342)3.15695293
15negative regulation of leukocyte mediated cytotoxicity (GO:0001911)3.15695293
16regulation of B cell receptor signaling pathway (GO:0050855)3.07729589
17antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.05164610
18granulocyte activation (GO:0036230)2.98132529
19regulation of antigen processing and presentation of peptide antigen (GO:0002583)2.95904734
20negative regulation of interleukin-12 production (GO:0032695)2.93446261
21leukocyte degranulation (GO:0043299)2.92693456
22myeloid cell activation involved in immune response (GO:0002275)2.92690992
23regulation of gamma-delta T cell differentiation (GO:0045586)2.90409698
24viral transcription (GO:0019083)2.89233118
25interferon-gamma production (GO:0032609)2.87445743
26thrombin receptor signaling pathway (GO:0070493)2.87284666
27mast cell activation (GO:0045576)2.87023243
28modulation by symbiont of host defense response (GO:0052031)2.86679926
29modulation by organism of immune response of other organism involved in symbiotic interaction (GO:002.86679926
30modulation by organism of defense response of other organism involved in symbiotic interaction (GO:02.86679926
31positive regulation by organism of defense response of other organism involved in symbiotic interact2.86679926
32modulation by symbiont of host immune response (GO:0052553)2.86679926
33positive regulation by symbiont of host defense response (GO:0052509)2.86679926
34positive regulation of interleukin-2 biosynthetic process (GO:0045086)2.86118616
35regulation of regulatory T cell differentiation (GO:0045589)2.85181660
36translational termination (GO:0006415)2.80446255
37immunoglobulin mediated immune response (GO:0016064)2.79173818
38negative regulation of phagocytosis (GO:0050765)2.78189938
39neutrophil activation involved in immune response (GO:0002283)2.77236547
40interferon-gamma-mediated signaling pathway (GO:0060333)2.75649658
41hepatocyte apoptotic process (GO:0097284)2.72858562
42positive regulation of type I interferon-mediated signaling pathway (GO:0060340)2.72127599
43positive regulation of T cell mediated cytotoxicity (GO:0001916)2.72089949
44regulation of gamma-delta T cell activation (GO:0046643)2.71994249
45antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)2.70921464
46SRP-dependent cotranslational protein targeting to membrane (GO:0006614)2.70227180
47pyrimidine ribonucleoside catabolic process (GO:0046133)2.69710298
48positive regulation of interferon-alpha production (GO:0032727)2.68816347
49ribosomal small subunit biogenesis (GO:0042274)2.67857636
50positive T cell selection (GO:0043368)2.67546291
51detection of bacterium (GO:0016045)2.67441651
52antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:2.66659771
53mature B cell differentiation involved in immune response (GO:0002313)2.66383304
54negative regulation of B cell apoptotic process (GO:0002903)2.65555972
55T cell migration (GO:0072678)2.65106821
56cellular response to interferon-beta (GO:0035458)2.64567994
57regulation of B cell apoptotic process (GO:0002902)2.64235264
58B cell mediated immunity (GO:0019724)2.64190864
59protein targeting to ER (GO:0045047)2.63874442
60cotranslational protein targeting to membrane (GO:0006613)2.63186772
61positive thymic T cell selection (GO:0045059)2.62835780
62detection of other organism (GO:0098543)2.62692910
63regulation of mast cell degranulation (GO:0043304)2.62541082
64deoxyribonucleoside monophosphate metabolic process (GO:0009162)2.62083417
65positive regulation of alpha-beta T cell proliferation (GO:0046641)2.59506347
66regulation of T cell mediated cytotoxicity (GO:0001914)2.59019826
67actin nucleation (GO:0045010)2.58648222
68regulation of alpha-beta T cell proliferation (GO:0046640)2.57977621
69regulation of interferon-alpha production (GO:0032647)2.57548001
70regulation of B cell differentiation (GO:0045577)2.55484480
71positive regulation of B cell differentiation (GO:0045579)2.55066006
72NIK/NF-kappaB signaling (GO:0038061)2.54722538
73sequestering of actin monomers (GO:0042989)2.51757554
74protein localization to endoplasmic reticulum (GO:0070972)2.49690983
75defense response to protozoan (GO:0042832)2.49328477
76thymic T cell selection (GO:0045061)2.48414690
77establishment of protein localization to endoplasmic reticulum (GO:0072599)2.47971509
78positive regulation of granulocyte differentiation (GO:0030854)2.45343126
79translational elongation (GO:0006414)2.44568496
80negative regulation of T cell apoptotic process (GO:0070233)2.44507182
81positive regulation of mast cell activation (GO:0033005)2.44132255
82antigen processing and presentation via MHC class Ib (GO:0002475)2.44129537
83positive regulation of macrophage differentiation (GO:0045651)2.43970374
84negative regulation of leukocyte apoptotic process (GO:2000107)2.43719881
85regulation of dendritic cell antigen processing and presentation (GO:0002604)2.43536612
86response to interferon-beta (GO:0035456)2.43479369
87regulation of mast cell activation (GO:0033003)2.43374125
88regulation of type I interferon-mediated signaling pathway (GO:0060338)2.43330154
89regulation of response to interferon-gamma (GO:0060330)2.41262704
90positive regulation of isotype switching (GO:0045830)2.41166866
91negative regulation of lymphocyte apoptotic process (GO:0070229)2.41125818
92negative regulation of thymocyte apoptotic process (GO:0070244)2.40674478
93response to type I interferon (GO:0034340)2.40231606
94positive regulation of defense response to virus by host (GO:0002230)2.39063421
95type I interferon signaling pathway (GO:0060337)2.39057189
96cellular response to type I interferon (GO:0071357)2.39057189
97regulation of T-helper 1 cell differentiation (GO:0045625)2.38607310
98response to peptidoglycan (GO:0032494)2.38041664
99respiratory burst (GO:0045730)2.37406393
100positive regulation of interleukin-8 secretion (GO:2000484)2.36572307
101regulation of antigen receptor-mediated signaling pathway (GO:0050854)2.35227028
102regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450912.34645639
103antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)2.33559693
104negative regulation of viral genome replication (GO:0045071)2.33495983
105regulation of interferon-gamma-mediated signaling pathway (GO:0060334)2.33088648
106viral life cycle (GO:0019058)2.32943014
107regulation of T cell tolerance induction (GO:0002664)2.32940702
108positive regulation of antigen processing and presentation (GO:0002579)2.30400072
109regulation of interferon-beta biosynthetic process (GO:0045357)2.29326009
110telomere maintenance via semi-conservative replication (GO:0032201)2.28109538
111DNA strand elongation involved in DNA replication (GO:0006271)2.26508239
112regulation of antigen processing and presentation (GO:0002577)2.25961038
113regulation of T cell receptor signaling pathway (GO:0050856)2.25499641
114T cell selection (GO:0045058)2.22730533
115positive regulation of interleukin-2 production (GO:0032743)2.22178204
116neutrophil activation (GO:0042119)2.21926557
117myeloid dendritic cell activation (GO:0001773)2.21844103
118response to interleukin-15 (GO:0070672)2.21533926
119tolerance induction (GO:0002507)2.21517830
120pinocytosis (GO:0006907)2.19138686
121ribosomal large subunit biogenesis (GO:0042273)2.19065350
122translational initiation (GO:0006413)2.18463157
123DNA strand elongation (GO:0022616)2.18170317
124nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)2.17557013
125negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)2.17415768
126regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)2.16940580
127cellular response to interleukin-15 (GO:0071350)2.16724029
128signal peptide processing (GO:0006465)2.16288071
129DNA deamination (GO:0045006)2.15648890
130maturation of SSU-rRNA (GO:0030490)2.15348814
131leukocyte cell-cell adhesion (GO:0007159)2.14407232
132B cell receptor signaling pathway (GO:0050853)2.14102814
133T cell apoptotic process (GO:0070231)2.13011679
134positive regulation of immunoglobulin mediated immune response (GO:0002891)2.12413277
135positive regulation of B cell mediated immunity (GO:0002714)2.12413277
136telomere maintenance via recombination (GO:0000722)2.11837088
137T cell costimulation (GO:0031295)2.11273151
138cellular protein complex disassembly (GO:0043624)2.10895460
139natural killer cell mediated cytotoxicity (GO:0042267)2.10541383
140natural killer cell mediated immunity (GO:0002228)2.10541383
141regulation of interleukin-12 biosynthetic process (GO:0045075)2.09578592
142regulation of interleukin-2 biosynthetic process (GO:0045076)2.09093942
143lymphocyte costimulation (GO:0031294)2.09051217
144cellular response to exogenous dsRNA (GO:0071360)2.08631162
145DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:002.08425659
146response to protozoan (GO:0001562)2.07989296

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human5.04437602
2IRF8_22096565_ChIP-ChIP_GC-B_Human3.60653689
3IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.94030812
4IRF8_21731497_ChIP-ChIP_J774_Mouse2.92262636
5FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.91798453
6EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.83642183
7ELF1_17652178_ChIP-ChIP_JURKAT_Human2.82779979
8SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.55800837
9SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.37109277
10GABP_17652178_ChIP-ChIP_JURKAT_Human2.31622295
11NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.25031522
12EST1_17652178_ChIP-ChIP_JURKAT_Human2.23305778
13MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.22332168
14MYC_18555785_ChIP-Seq_MESCs_Mouse2.14276286
15EGR1_19374776_ChIP-ChIP_THP-1_Human2.10153651
16STAT4_19710469_ChIP-ChIP_TH1__Mouse2.09884342
17KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.09214017
18IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.03145337
19STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.03092035
20SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.96894106
21FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.95465191
22E2F4_17652178_ChIP-ChIP_JURKAT_Human1.93345102
23* SPI1_23547873_ChIP-Seq_NB4_Human1.88538417
24JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.86094976
25CREB1_15753290_ChIP-ChIP_HEK293T_Human1.80824201
26* FOXM1_23109430_ChIP-Seq_U2OS_Human1.80707914
27* FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.80404464
28* VDR_23849224_ChIP-Seq_CD4+_Human1.78708363
29* MYC_22102868_ChIP-Seq_BL_Human1.75135998
30ETS1_20019798_ChIP-Seq_JURKAT_Human1.74856097
31MYB_26560356_Chip-Seq_TH2_Human1.74679417
32IRF8_27001747_Chip-Seq_BMDM_Mouse1.73942758
33* MYB_21317192_ChIP-Seq_ERMYB_Mouse1.70346542
34NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.68105578
35* RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.67622735
36TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.67609582
37STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.66213911
38SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.65178109
39ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.64835313
40* MYC_18358816_ChIP-ChIP_MESCs_Mouse1.63475233
41MAF_26560356_Chip-Seq_TH1_Human1.62454188
42CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.61740779
43LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.59186388
44MYB_26560356_Chip-Seq_TH1_Human1.58586005
45* HOXB4_20404135_ChIP-ChIP_EML_Mouse1.58364687
46NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.57089825
47FOXP3_21729870_ChIP-Seq_TREG_Human1.56381513
48BP1_19119308_ChIP-ChIP_Hs578T_Human1.56320894
49* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.54020503
50ELK1_19687146_ChIP-ChIP_HELA_Human1.53899230
51* VDR_21846776_ChIP-Seq_THP-1_Human1.51106596
52* MYC_19030024_ChIP-ChIP_MESCs_Mouse1.50780139
53SPI1_23127762_ChIP-Seq_K562_Human1.48984034
54XRN2_22483619_ChIP-Seq_HELA_Human1.47609515
55* NELFA_20434984_ChIP-Seq_ESCs_Mouse1.45902026
56* MYC_19079543_ChIP-ChIP_MESCs_Mouse1.44590337
57ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.44456132
58* ERG_20887958_ChIP-Seq_HPC-7_Mouse1.44244943
59CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.43538457
60UTX_26944678_Chip-Seq_JUKART_Human1.41625656
61CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.41207834
62RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.39614701
63* E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.38207026
64EGR1_23403033_ChIP-Seq_LIVER_Mouse1.37582870
65BRD4_27068464_Chip-Seq_AML-cells_Mouse1.35967355
66DCP1A_22483619_ChIP-Seq_HELA_Human1.35775657
67E2F1_18555785_ChIP-Seq_MESCs_Mouse1.33958203
68* RUNX1_22412390_ChIP-Seq_EML_Mouse1.32021186
69* FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.27430172
70TP63_17297297_ChIP-ChIP_HaCaT_Human1.26073627
71STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.25902813
72SRF_21415370_ChIP-Seq_HL-1_Mouse1.24985175
73FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.23836539
74CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.23592742
75E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.23020139
76* GABP_19822575_ChIP-Seq_HepG2_Human1.22583634
77GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.20407233
78GATA3_26560356_Chip-Seq_TH2_Human1.20003854
79GATA2_22383799_ChIP-Seq_G1ME_Mouse1.19420745
80MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.19045205
81PPARA_22158963_ChIP-Seq_LIVER_Mouse1.16669334
82HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.14695234
83TFEB_21752829_ChIP-Seq_HELA_Human1.14641800
84MAF_26560356_Chip-Seq_TH2_Human1.14229050
85SCL_19346495_ChIP-Seq_HPC-7_Human1.11920346
86TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.11901004
87RUNX_20019798_ChIP-Seq_JUKART_Human1.10068913
88* VDR_24763502_ChIP-Seq_THP-1_Human1.09088053
89SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.08423792
90NOTCH1_21737748_ChIP-Seq_TLL_Human1.06084262
91CIITA_25753668_ChIP-Seq_RAJI_Human1.05378837
92GATA1_22383799_ChIP-Seq_G1ME_Mouse1.05278908
93TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.05023403
94HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.04212973
95PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.03997677
96* E2F1_21310950_ChIP-Seq_MCF-7_Human1.03205812
97PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.02949080
98* BCL6_27268052_Chip-Seq_Bcells_Human1.02696293
99* GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.02596207
100GATA1_22025678_ChIP-Seq_K562_Human1.02214935
101KDM5A_27292631_Chip-Seq_BREAST_Human1.02144683
102NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.02127054
103HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.02083493
104PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.02055950
105PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.01212836
106PU.1_20513432_ChIP-Seq_Bcells_Mouse1.01191944
107* FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.00903254
108CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.00521210
109* MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.00402682
110CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.99446603
111PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.99052245
112GATA1_19941827_ChIP-Seq_MEL_Mouse0.97992133
113ELF1_20517297_ChIP-Seq_JURKAT_Human0.97867308
114HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.97112621
115TTF2_22483619_ChIP-Seq_HELA_Human0.96907907
116* CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse0.95890095
117LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.95791466
118ELK1_22589737_ChIP-Seq_MCF10A_Human0.94471495
119GATA3_27048872_Chip-Seq_THYMUS_Human0.94202066

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001835_abnormal_antigen_presentation3.46719376
2MP0005671_abnormal_response_to2.83390393
3MP0009785_altered_susceptibility_to2.70106175
4MP0000685_abnormal_immune_system2.58602330
5MP0003436_decreased_susceptibility_to2.56743571
6MP0001800_abnormal_humoral_immune2.44248247
7MP0003763_abnormal_thymus_physiology2.42607231
8MP0001790_abnormal_immune_system2.32493926
9MP0005387_immune_system_phenotype2.32493926
10MP0005000_abnormal_immune_tolerance2.30973624
11MP0002452_abnormal_antigen_presenting2.26341004
12MP0002148_abnormal_hypersensitivity_rea2.24291530
13MP0005025_abnormal_response_to2.23743267
14MP0009333_abnormal_splenocyte_physiolog2.16547641
15MP0002723_abnormal_immune_serum2.16010678
16MP0003724_increased_susceptibility_to2.14333065
17MP0002420_abnormal_adaptive_immunity2.11920601
18MP0001819_abnormal_immune_cell2.11369857
19MP0006082_CNS_inflammation2.09176765
20MP0002419_abnormal_innate_immunity2.07121918
21MP0003693_abnormal_embryo_hatching1.94805538
22MP0002398_abnormal_bone_marrow1.91302629
23MP0009840_abnormal_foam_cell1.89954983
24MP0002405_respiratory_system_inflammati1.89138071
25MP0002166_altered_tumor_susceptibility1.85859517
26MP0010155_abnormal_intestine_physiology1.81535011
27MP0000716_abnormal_immune_system1.77740109
28MP0000689_abnormal_spleen_morphology1.70382963
29MP0002396_abnormal_hematopoietic_system1.69362583
30MP0001873_stomach_inflammation1.69019781
31MP0002722_abnormal_immune_system1.66760541
32MP0005360_urolithiasis1.64699426
33MP0004947_skin_inflammation1.63797822
34MP0001845_abnormal_inflammatory_respons1.62370750
35MP0002006_tumorigenesis1.60142107
36MP0005464_abnormal_platelet_physiology1.59272324
37MP0005451_abnormal_body_composition1.58012600
38MP0002429_abnormal_blood_cell1.57918059
39MP0001853_heart_inflammation1.56738375
40MP0003303_peritoneal_inflammation1.53708258
41MP0000858_altered_metastatic_potential1.47358799
42MP0000490_abnormal_crypts_of1.46484507
43MP0002138_abnormal_hepatobiliary_system1.44102643
44MP0003806_abnormal_nucleotide_metabolis1.43874569
45MP0008469_abnormal_protein_level1.43633789
46MP0010352_gastrointestinal_tract_polyps1.41923970
47MP0004957_abnormal_blastocyst_morpholog1.35932521
48MP0001533_abnormal_skeleton_physiology1.34089129
49MP0000703_abnormal_thymus_morphology1.32147995
50MP0002933_joint_inflammation1.31824879
51MP0008007_abnormal_cellular_replicative1.31702841
52MP0003077_abnormal_cell_cycle1.30664034
53MP0002139_abnormal_hepatobiliary_system1.29720549
54MP0003300_gastrointestinal_ulcer1.28183951
55MP0006054_spinal_hemorrhage1.25094461
56MP0002132_abnormal_respiratory_system1.25047054
57MP0008260_abnormal_autophagy1.21901877
58MP0003186_abnormal_redox_activity1.21067521
59MP0003448_altered_tumor_morphology1.18823939
60MP0001545_abnormal_hematopoietic_system1.18566995
61MP0005397_hematopoietic_system_phenotyp1.18566995
62MP0008057_abnormal_DNA_replication1.14924925
63MP0000465_gastrointestinal_hemorrhage1.14672461
64MP0003191_abnormal_cellular_cholesterol1.13703307
65* MP0003866_abnormal_defecation1.13695123
66MP0009764_decreased_sensitivity_to1.12826006
67* MP0005058_abnormal_lysosome_morphology1.12564494
68MP0003075_altered_response_to1.12095433
69MP0002019_abnormal_tumor_incidence1.08832604
70MP0010094_abnormal_chromosome_stability1.08737752
71MP0003111_abnormal_nucleus_morphology1.05462749
72MP0005166_decreased_susceptibility_to1.05402313
73MP0005310_abnormal_salivary_gland1.04453893
74MP0001851_eye_inflammation1.00731522
75MP0005023_abnormal_wound_healing0.98107802
76MP0008004_abnormal_stomach_pH0.97019372
77MP0004808_abnormal_hematopoietic_stem0.96236104
78MP0005365_abnormal_bile_salt0.95143033
79MP0003183_abnormal_peptide_metabolism0.92947218
80MP0003172_abnormal_lysosome_physiology0.91878316
81MP0001663_abnormal_digestive_system0.91071071
82MP0000609_abnormal_liver_physiology0.90271517
83MP0003786_premature_aging0.88898961
84MP0002877_abnormal_melanocyte_morpholog0.87661011
85MP0004782_abnormal_surfactant_physiolog0.87278853
86MP0008058_abnormal_DNA_repair0.86821470
87MP0009643_abnormal_urine_homeostasis0.85860995
88MP0009763_increased_sensitivity_to0.84682630
89MP0005084_abnormal_gallbladder_morpholo0.84082430
90MP0000015_abnormal_ear_pigmentation0.83211603
91MP0006036_abnormal_mitochondrial_physio0.82419662
92MP0002136_abnormal_kidney_physiology0.82409918
93MP0003566_abnormal_cell_adhesion0.81835037
94MP0009278_abnormal_bone_marrow0.81399771
95MP0005075_abnormal_melanosome_morpholog0.81394156
96MP0003656_abnormal_erythrocyte_physiolo0.81274985
97MP0001243_abnormal_dermal_layer0.81122778
98MP0003453_abnormal_keratinocyte_physiol0.80869723
99MP0000598_abnormal_liver_morphology0.80092704
100MP0005408_hypopigmentation0.79409829
101MP0000343_altered_response_to0.79212598
102MP0002998_abnormal_bone_remodeling0.78101546
103MP0005085_abnormal_gallbladder_physiolo0.78006343
104MP0004019_abnormal_vitamin_homeostasis0.77372679
105MP0001764_abnormal_homeostasis0.76688654
106MP0010307_abnormal_tumor_latency0.74900730
107* MP0000477_abnormal_intestine_morphology0.72488799
108MP0008875_abnormal_xenobiotic_pharmacok0.72307492
109MP0009697_abnormal_copulation0.71668145
110MP0005165_increased_susceptibility_to0.71431498
111MP0005319_abnormal_enzyme/_coenzyme0.70774150
112* MP0001666_abnormal_nutrient_absorption0.70314970
113MP0005076_abnormal_cell_differentiation0.69868167
114MP0000249_abnormal_blood_vessel0.68907384
115MP0004883_abnormal_blood_vessel0.68573919
116MP0008932_abnormal_embryonic_tissue0.68243899
117MP0009765_abnormal_xenobiotic_induced0.67135822
118MP0003828_pulmonary_edema0.67043153
119MP0008873_increased_physiological_sensi0.66860547
120MP0000313_abnormal_cell_death0.66752567
121MP0005083_abnormal_biliary_tract0.66133641
122MP0005164_abnormal_response_to0.64738133

Predicted human phenotypes

RankGene SetZ-score
1Prolonged bleeding time (HP:0003010)4.49970784
2Eczematoid dermatitis (HP:0000976)4.05376419
3Recurrent abscess formation (HP:0002722)3.95415833
4Elevated erythrocyte sedimentation rate (HP:0003565)3.77297049
5IgM deficiency (HP:0002850)3.61282671
6Abnormality of T cell number (HP:0011839)3.53986702
7T lymphocytopenia (HP:0005403)3.46728293
8Recurrent bacterial skin infections (HP:0005406)3.39992416
9Chronic otitis media (HP:0000389)3.34527548
10Recurrent viral infections (HP:0004429)3.32852458
11Increased mean platelet volume (HP:0011877)3.30292925
12Recurrent fungal infections (HP:0002841)3.22972163
13Abnormality of T cells (HP:0002843)3.22857293
14Combined immunodeficiency (HP:0005387)3.16163637
15Myositis (HP:0100614)3.11576419
16Severe combined immunodeficiency (HP:0004430)3.08072549
17Autoimmune thrombocytopenia (HP:0001973)3.07813028
18Menorrhagia (HP:0000132)3.07697096
19Petechiae (HP:0000967)3.03362712
20Vacuolated lymphocytes (HP:0001922)3.01969560
21Abnormality of T cell physiology (HP:0011840)3.00261392
22Recurrent bronchitis (HP:0002837)2.98936577
23Pustule (HP:0200039)2.93427151
24Granulocytopenia (HP:0001913)2.89077470
25Recurrent gram-negative bacterial infections (HP:0005420)2.88951699
26Abnormality of macrophages (HP:0004311)2.85617188
27Eosinophilia (HP:0001880)2.84540006
28Thrombocytosis (HP:0001894)2.82431532
29IgG deficiency (HP:0004315)2.78431943
30Abnormal platelet function (HP:0011869)2.76321466
31Impaired platelet aggregation (HP:0003540)2.76321466
32Abnormal delayed hypersensitivity skin test (HP:0002963)2.75802342
33Abnormality of eosinophils (HP:0001879)2.68562103
34Recurrent skin infections (HP:0001581)2.66271460
35Chest pain (HP:0100749)2.60716732
36Panhypogammaglobulinemia (HP:0003139)2.60539095
37Aplastic anemia (HP:0001915)2.56012338
38Meningitis (HP:0001287)2.54744200
39Abnormality of cells of the lymphoid lineage (HP:0012140)2.53541347
40Increased IgM level (HP:0003496)2.52783473
41Leukocytosis (HP:0001974)2.50808093
42Increased IgE level (HP:0003212)2.50416504
43Chronic mucocutaneous candidiasis (HP:0002728)2.50041654
44Recurrent cutaneous fungal infections (HP:0011370)2.50041654
45Lymphopenia (HP:0001888)2.49150575
46Increased serum ferritin (HP:0003281)2.47394116
47Stomatitis (HP:0010280)2.46689158
48Mediastinal lymphadenopathy (HP:0100721)2.42704433
49Vasculitis (HP:0002633)2.42345388
50Chronic obstructive pulmonary disease (HP:0006510)2.41495355
51Obstructive lung disease (HP:0006536)2.41495355
52Encephalitis (HP:0002383)2.40833647
53Nasal polyposis (HP:0100582)2.40125793
54Orchitis (HP:0100796)2.36002792
55Spontaneous hematomas (HP:0007420)2.35409019
56Thyroiditis (HP:0100646)2.34779334
57Hypertensive crisis (HP:0100735)2.33987589
58Acute hepatic failure (HP:0006554)2.33788957
59Reticulocytopenia (HP:0001896)2.33663386
60Chronic diarrhea (HP:0002028)2.30060913
61Abnormality of liposaccharide metabolism (HP:0010968)2.29678702
62Abnormality of glycosphingolipid metabolism (HP:0004343)2.29678702
63Abnormality of glycolipid metabolism (HP:0010969)2.29678702
64Abnormality of iron homeostasis (HP:0011031)2.27708478
65Agammaglobulinemia (HP:0004432)2.26696771
66Retrobulbar optic neuritis (HP:0100654)2.23095919
67Optic neuritis (HP:0100653)2.23095919
68B lymphocytopenia (HP:0010976)2.21505696
69Abnormality of B cell number (HP:0010975)2.21505696
70Interstitial pulmonary disease (HP:0006530)2.21428232
71Periodontitis (HP:0000704)2.17092174
72Joint swelling (HP:0001386)2.15522220
73Cellulitis (HP:0100658)2.14948273
74IgA deficiency (HP:0002720)2.14820582
75Hemoptysis (HP:0002105)2.09372861
76Abnormality of the nasal mucosa (HP:0000433)2.08316031
77Recurrent sinusitis (HP:0011108)2.07206987
78Gingival bleeding (HP:0000225)2.06094972
79Hypergammaglobulinemia (HP:0010702)2.05983552
80Purpura (HP:0000979)2.04734818
81Inflammation of the large intestine (HP:0002037)2.03582479
82Keratoconjunctivitis sicca (HP:0001097)2.03552643
83Lymphoma (HP:0002665)2.03310657
84Gastrointestinal inflammation (HP:0004386)2.02906675
85Gangrene (HP:0100758)2.02619005
86Autoimmune hemolytic anemia (HP:0001890)2.02603121
87Urticaria (HP:0001025)2.02115606
88Nonimmune hydrops fetalis (HP:0001790)2.00057487
89Abnormality of the heme biosynthetic pathway (HP:0010472)1.99932194
90Hypobetalipoproteinemia (HP:0003563)1.99107518
91Systemic lupus erythematosus (HP:0002725)1.96838927
92Gingivitis (HP:0000230)1.95971393
93Hypoplasia of the thymus (HP:0000778)1.93937921
94Poor head control (HP:0002421)1.93463563
95Abnormality of the pleura (HP:0002103)1.93245896
96Prostate neoplasm (HP:0100787)1.93109903
97Epistaxis (HP:0000421)1.92900414
98Pancytopenia (HP:0001876)1.92884812
99Abnormality of transition element cation homeostasis (HP:0011030)1.91401537
100Abnormal platelet volume (HP:0011876)1.91293462
101Hepatosplenomegaly (HP:0001433)1.91023945
102Pulmonary infiltrates (HP:0002113)1.89936484
103Abnormality of cells of the erythroid lineage (HP:0012130)1.89500767
104Macrocytic anemia (HP:0001972)1.89278319
105Anorexia (HP:0002039)1.89048668
106Skin ulcer (HP:0200042)1.88710094
107Birth length less than 3rd percentile (HP:0003561)1.88684938
108Arterial thrombosis (HP:0004420)1.88463014
109Fatigue (HP:0012378)1.86982816
110Glomerulopathy (HP:0100820)1.86034393
111Thrombophlebitis (HP:0004418)1.85734018
112Abnormality of the prostate (HP:0008775)1.85088047
113Basal ganglia calcification (HP:0002135)1.82031017
114Gastrointestinal infarctions (HP:0005244)1.81785322
115Osteomyelitis (HP:0002754)1.80225883
116Abnormal number of erythroid precursors (HP:0012131)1.79973905
117Amaurosis fugax (HP:0100576)1.79396372
118Neutropenia (HP:0001875)1.79106154
119Recurrent pneumonia (HP:0006532)1.77914450
120Skin rash (HP:0000988)1.76244656
121Colitis (HP:0002583)1.74752464
122Joint hemorrhage (HP:0005261)1.72872005
123Aplasia/Hypoplasia of the thymus (HP:0010515)1.71675313
124Abnormality of monocarboxylic acid metabolism (HP:0010996)1.71526983
125Abnormality of aromatic amino acid family metabolism (HP:0004338)1.71252671
126Reduced antithrombin III activity (HP:0001976)1.71086802

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP4K13.69795304
2VRK23.61173712
3RIPK43.04038362
4TXK2.73853010
5BUB12.63655283
6BLK2.59967739
7TYK22.41471096
8TESK22.35409001
9IRAK42.25615858
10EIF2AK12.20694697
11STK102.13153731
12TBK12.12294378
13MAP3K142.07065306
14NME22.02439399
15IRAK32.02008749
16JAK32.00581857
17MST41.96963764
18ZAP701.94835887
19IKBKE1.84909323
20FES1.83499621
21KDR1.76420149
22SCYL21.74490220
23TEC1.71489691
24PIM21.64224447
25IKBKB1.63156892
26ITK1.62033627
27SMG11.57172611
28BTK1.56801672
29GRK61.55939482
30TAOK31.55167730
31TLK11.53600391
32KIT1.53130477
33FGFR41.49883836
34RPS6KA41.47196730
35EIF2AK31.39036536
36ERN11.35673010
37PIM11.30894637
38LRRK21.30458354
39CSF1R1.27211197
40TESK11.26862830
41CSK1.24811802
42BMPR21.16882511
43JAK11.14873919
44SYK1.14495102
45PBK1.11564861
46PASK1.10981170
47LCK1.10335072
48TAOK21.08148951
49NEK91.07962715
50CLK11.07832386
51WEE11.06559221
52MAP3K101.05565531
53TSSK61.05491896
54NLK1.00680639
55STK41.00481309
56CHUK0.99229544
57LYN0.97783110
58PLK40.96802274
59MATK0.96668202
60STK160.95644753
61DAPK10.95495566
62VRK10.93660415
63SRPK10.93358661
64FLT30.92797051
65PRPF4B0.92040469
66NEK20.89858936
67TGFBR10.88040926
68ACVR1B0.86634009
69EPHB10.85943953
70RPS6KB20.84873655
71SIK30.83623542
72FGR0.79984319
73TNK20.77283463
74PAK40.76584681
75MAP3K80.76017968
76BRSK20.74970136
77EIF2AK20.74724780
78PIK3CG0.72451819
79MAP2K30.66386775
80MAP3K120.66348359
81MAP3K110.65691440
82HCK0.65528964
83TGFBR20.64924548
84EEF2K0.64774886
85MAPKAPK30.64229940
86FGFR30.64229736
87FRK0.62794283
88MAP3K30.62197966
89TAF10.62069367
90EPHA20.60693087
91TIE10.60210156
92EPHA30.58228804
93AURKB0.57407126
94RPS6KA50.56113728
95NUAK10.53901510
96MAP3K10.52809316
97ATR0.51742836
98CDK40.51245792
99TRIB30.50903703
100ZAK0.50247698
101MARK30.49854390
102IRAK10.48949724
103PAK10.48705601
104BCKDK0.48560219
105ABL20.48494270
106ARAF0.48178470
107TRPM70.47717589
108MAPKAPK20.46793506
109DYRK30.46664369
110PTK60.46210108
111HIPK20.45933208
112CDK70.45758174
113CDC70.45599436
114MAP2K20.45371260
115PRKCQ0.45137032
116RAF10.45112849
117JAK20.44084758
118PRKCD0.42642582
119PLK10.41565489
120CDK80.39441316
121PDK10.38478229
122BMX0.37891460
123ILK0.37354356
124GRK70.37178987
125MAPK110.36156795
126PTK2B0.35978178
127PRKG20.35589479
128NEK10.35577971
129GRK50.33564830
130MYLK0.33140420
131PDK20.31886024
132CSNK2A10.31848886

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary immunodeficiency_Homo sapiens_hsa053402.73747419
2Proteasome_Homo sapiens_hsa030502.60574624
3Ribosome_Homo sapiens_hsa030102.45765901
4DNA replication_Homo sapiens_hsa030302.29880790
5Antigen processing and presentation_Homo sapiens_hsa046122.09344253
6Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.07090093
7Intestinal immune network for IgA production_Homo sapiens_hsa046721.99646183
8Graft-versus-host disease_Homo sapiens_hsa053321.95274658
9NF-kappa B signaling pathway_Homo sapiens_hsa040641.89775531
10Allograft rejection_Homo sapiens_hsa053301.81295285
11Leishmaniasis_Homo sapiens_hsa051401.79527257
12Measles_Homo sapiens_hsa051621.76088005
13Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.73490671
14Mismatch repair_Homo sapiens_hsa034301.67499578
15Base excision repair_Homo sapiens_hsa034101.65538103
16Legionellosis_Homo sapiens_hsa051341.55497525
17One carbon pool by folate_Homo sapiens_hsa006701.53415141
18Folate biosynthesis_Homo sapiens_hsa007901.51525401
19Staphylococcus aureus infection_Homo sapiens_hsa051501.47228534
20Spliceosome_Homo sapiens_hsa030401.45178655
21Protein export_Homo sapiens_hsa030601.37826713
22Herpes simplex infection_Homo sapiens_hsa051681.37037375
23Hematopoietic cell lineage_Homo sapiens_hsa046401.33994732
24Homologous recombination_Homo sapiens_hsa034401.32760775
25Platelet activation_Homo sapiens_hsa046111.28992200
26RNA polymerase_Homo sapiens_hsa030201.27886676
27RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.24560779
28Pyrimidine metabolism_Homo sapiens_hsa002401.22593828
29Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.21855703
30Pentose phosphate pathway_Homo sapiens_hsa000301.19435206
31Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.18369863
32Nucleotide excision repair_Homo sapiens_hsa034201.17362652
33Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.16949361
34Other glycan degradation_Homo sapiens_hsa005111.12473092
35NOD-like receptor signaling pathway_Homo sapiens_hsa046211.09019785
36SNARE interactions in vesicular transport_Homo sapiens_hsa041301.08702962
37Toll-like receptor signaling pathway_Homo sapiens_hsa046201.08254103
38Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.07069695
39Non-homologous end-joining_Homo sapiens_hsa034501.06577576
40B cell receptor signaling pathway_Homo sapiens_hsa046621.06082339
41Autoimmune thyroid disease_Homo sapiens_hsa053201.04753218
42T cell receptor signaling pathway_Homo sapiens_hsa046601.04542647
43Shigellosis_Homo sapiens_hsa051311.04365336
44Epstein-Barr virus infection_Homo sapiens_hsa051691.03657167
45Sulfur relay system_Homo sapiens_hsa041221.03253615
46p53 signaling pathway_Homo sapiens_hsa041151.02577397
47Osteoclast differentiation_Homo sapiens_hsa043801.02479350
48Apoptosis_Homo sapiens_hsa042100.99878498
49Drug metabolism - other enzymes_Homo sapiens_hsa009830.99690392
50Jak-STAT signaling pathway_Homo sapiens_hsa046300.95925479
51Malaria_Homo sapiens_hsa051440.95412435
52Influenza A_Homo sapiens_hsa051640.94784131
53Pertussis_Homo sapiens_hsa051330.93909065
54Pentose and glucuronate interconversions_Homo sapiens_hsa000400.93164098
55Phagosome_Homo sapiens_hsa041450.90715667
56Cell cycle_Homo sapiens_hsa041100.89964511
57RNA transport_Homo sapiens_hsa030130.89620903
58Caffeine metabolism_Homo sapiens_hsa002320.89604332
59Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.87465621
60Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.85668091
61Systemic lupus erythematosus_Homo sapiens_hsa053220.85344529
62Selenocompound metabolism_Homo sapiens_hsa004500.85154051
63Viral myocarditis_Homo sapiens_hsa054160.83628649
64Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.82507905
65Toxoplasmosis_Homo sapiens_hsa051450.80563828
66Leukocyte transendothelial migration_Homo sapiens_hsa046700.80202767
67Viral carcinogenesis_Homo sapiens_hsa052030.76661099
68Hepatitis B_Homo sapiens_hsa051610.75888481
69Asthma_Homo sapiens_hsa053100.75283976
70Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.73217580
71Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.73047091
72Tuberculosis_Homo sapiens_hsa051520.72009081
73Lysosome_Homo sapiens_hsa041420.71596612
74Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.71332709
75TNF signaling pathway_Homo sapiens_hsa046680.65616722
76RNA degradation_Homo sapiens_hsa030180.64941058
77Glutathione metabolism_Homo sapiens_hsa004800.64803493
78African trypanosomiasis_Homo sapiens_hsa051430.64752456
79Hepatitis C_Homo sapiens_hsa051600.63742266
80Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.61881728
81Histidine metabolism_Homo sapiens_hsa003400.61446995
82Tryptophan metabolism_Homo sapiens_hsa003800.60294667
83Rheumatoid arthritis_Homo sapiens_hsa053230.60058620
84Complement and coagulation cascades_Homo sapiens_hsa046100.59775929
85Fatty acid elongation_Homo sapiens_hsa000620.59345589
86Acute myeloid leukemia_Homo sapiens_hsa052210.58343410
87Type I diabetes mellitus_Homo sapiens_hsa049400.56551308
88HTLV-I infection_Homo sapiens_hsa051660.55731408
89Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.55718583
90Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.55713166
91Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.55623638
92Arachidonic acid metabolism_Homo sapiens_hsa005900.55522822
93Cyanoamino acid metabolism_Homo sapiens_hsa004600.55154319
94Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.54158836
95Primary bile acid biosynthesis_Homo sapiens_hsa001200.53852847
96Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.53324826
97Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.52926905
98Fanconi anemia pathway_Homo sapiens_hsa034600.52541663
99Glycosaminoglycan degradation_Homo sapiens_hsa005310.51240868
100Vitamin digestion and absorption_Homo sapiens_hsa049770.51037507
101Salmonella infection_Homo sapiens_hsa051320.51011772
102Peroxisome_Homo sapiens_hsa041460.49115434
103Maturity onset diabetes of the young_Homo sapiens_hsa049500.48966591
104Pancreatic cancer_Homo sapiens_hsa052120.48843465
105Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.48193242
106Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.47417158
107Sulfur metabolism_Homo sapiens_hsa009200.47013340
108Chemokine signaling pathway_Homo sapiens_hsa040620.46799703
109Galactose metabolism_Homo sapiens_hsa000520.46393338
110Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.45743267
111Purine metabolism_Homo sapiens_hsa002300.42549900
112Transcriptional misregulation in cancer_Homo sapiens_hsa052020.42025647
113Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.41349018
114Parkinsons disease_Homo sapiens_hsa050120.37674961
115Non-small cell lung cancer_Homo sapiens_hsa052230.37181648
116Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.34476263
117Renin-angiotensin system_Homo sapiens_hsa046140.33645914
118Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.31872995
119* Endocytosis_Homo sapiens_hsa041440.30246956
120Oxidative phosphorylation_Homo sapiens_hsa001900.29704439
121Fructose and mannose metabolism_Homo sapiens_hsa000510.25853894
122Bladder cancer_Homo sapiens_hsa052190.22432958

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