SAMD9L

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 cytoplasmic protein that acts as a tumor suppressor but also plays a key role in cell proliferation and the innate immune response to viral infection. The encoded protein contains an N-terminal sterile alpha motif domain. Naturally occurring mutations in this gene are associated with myeloid disorders such as juvenile myelomonocytic leukemia, acute myeloid leukemia, and myelodysplastic syndrome. Naturally occurring mutations are also associated with hepatitis-B related hepatocellular carcinoma, normophosphatemic familial tumoral calcinosis, and ataxia-pancytopenia syndrome. 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 (G6.18934427
2antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)5.79631731
3antigen processing and presentation of endogenous peptide antigen (GO:0002483)5.79631731
4positive regulation of gamma-delta T cell activation (GO:0046645)5.68538789
5antigen processing and presentation of endogenous antigen (GO:0019883)5.66011899
6positive regulation of interferon-alpha production (GO:0032727)5.15037936
7regulation of interferon-alpha production (GO:0032647)4.87787430
8positive regulation by organism of defense response of other organism involved in symbiotic interact4.74665293
9modulation by symbiont of host immune response (GO:0052553)4.74665293
10positive regulation by symbiont of host defense response (GO:0052509)4.74665293
11modulation by symbiont of host defense response (GO:0052031)4.74665293
12modulation by organism of immune response of other organism involved in symbiotic interaction (GO:004.74665293
13modulation by organism of defense response of other organism involved in symbiotic interaction (GO:04.74665293
14regulation of interferon-beta biosynthetic process (GO:0045357)4.63946362
15response to type I interferon (GO:0034340)4.62424074
16type I interferon signaling pathway (GO:0060337)4.56154010
17cellular response to type I interferon (GO:0071357)4.56154010
18regulation of B cell receptor signaling pathway (GO:0050855)4.15986141
19negative regulation of interleukin-12 production (GO:0032695)4.11211569
20regulation of gamma-delta T cell differentiation (GO:0045586)4.10046145
21negative regulation of T cell mediated immunity (GO:0002710)4.07058951
22regulation of gamma-delta T cell activation (GO:0046643)4.04979606
23neutrophil activation involved in immune response (GO:0002283)4.02156696
24negative regulation of cell killing (GO:0031342)3.96261899
25negative regulation of leukocyte mediated cytotoxicity (GO:0001911)3.96261899
26immunoglobulin mediated immune response (GO:0016064)3.92973095
27detection of molecule of bacterial origin (GO:0032490)3.88170657
28detection of other organism (GO:0098543)3.84280989
29regulation of interleukin-12 biosynthetic process (GO:0045075)3.82863647
30positive regulation of interferon-beta production (GO:0032728)3.78987948
31T cell migration (GO:0072678)3.75560268
32B cell receptor signaling pathway (GO:0050853)3.75313458
33response to interferon-alpha (GO:0035455)3.73614476
34positive regulation of type I interferon-mediated signaling pathway (GO:0060340)3.73152014
35T-helper 1 type immune response (GO:0042088)3.73040909
36interferon-gamma-mediated signaling pathway (GO:0060333)3.71277561
37response to peptidoglycan (GO:0032494)3.69463882
38positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.65178979
39macrophage activation involved in immune response (GO:0002281)3.65109838
40cellular response to interferon-beta (GO:0035458)3.58685733
41detection of bacterium (GO:0016045)3.53105090
42response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.52956039
43response to host immune response (GO:0052572)3.52956039
44detection of external biotic stimulus (GO:0098581)3.52046880
45regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)3.51333918
46microglial cell activation (GO:0001774)3.50657731
47regulation of B cell differentiation (GO:0045577)3.49496812
48positive thymic T cell selection (GO:0045059)3.48171766
49negative regulation of lymphocyte mediated immunity (GO:0002707)3.44439422
50positive regulation of type 2 immune response (GO:0002830)3.42553794
51cellular response to exogenous dsRNA (GO:0071360)3.39157523
52positive regulation of B cell differentiation (GO:0045579)3.38548211
53respiratory burst (GO:0045730)3.35674231
54production of molecular mediator involved in inflammatory response (GO:0002532)3.34056340
55regulation of dendritic cell antigen processing and presentation (GO:0002604)3.32422124
56positive regulation of interleukin-17 production (GO:0032740)3.31777158
57regulation of MHC class I biosynthetic process (GO:0045343)3.31259113
58positive regulation of defense response to virus by host (GO:0002230)3.30593808
59leukocyte aggregation (GO:0070486)3.30134236
60neutrophil activation (GO:0042119)3.29926363
61response to interferon-beta (GO:0035456)3.29360605
62necroptotic process (GO:0070266)3.28165418
63response to defenses of other organism involved in symbiotic interaction (GO:0052173)3.26573888
64response to host (GO:0075136)3.26573888
65response to host defenses (GO:0052200)3.26573888
66defense response to protozoan (GO:0042832)3.25524574
67cellular response to zinc ion (GO:0071294)3.24981849
68granulocyte activation (GO:0036230)3.24640944
69regulation of tolerance induction (GO:0002643)3.22624601
70negative regulation of viral genome replication (GO:0045071)3.19941946
71JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)3.19613395
72regulation of type I interferon-mediated signaling pathway (GO:0060338)3.19165666
73lipopolysaccharide-mediated signaling pathway (GO:0031663)3.17452402
74regulation of alpha-beta T cell proliferation (GO:0046640)3.17313899
75negative thymic T cell selection (GO:0045060)3.17174004
76regulation of regulatory T cell differentiation (GO:0045589)3.14449095
77lymphocyte chemotaxis (GO:0048247)3.13191405
78negative T cell selection (GO:0043383)3.12341184
79regulation of RIG-I signaling pathway (GO:0039535)3.10325383
80antigen processing and presentation via MHC class Ib (GO:0002475)3.09651709
81response to protozoan (GO:0001562)3.09189273
82negative regulation of leukocyte mediated immunity (GO:0002704)3.08511281
83regulation of viral genome replication (GO:0045069)3.05366941
84detection of biotic stimulus (GO:0009595)3.04802283
85cellular extravasation (GO:0045123)3.03736148
86cellular response to virus (GO:0098586)3.03124494
87myeloid cell activation involved in immune response (GO:0002275)3.02557843
88natural killer cell activation involved in immune response (GO:0002323)3.02424695
89regulation of type 2 immune response (GO:0002828)3.01818811
90positive regulation of natural killer cell differentiation (GO:0032825)2.99732290
91macrophage activation (GO:0042116)2.98496526
92B cell mediated immunity (GO:0019724)2.98367626
93programmed necrotic cell death (GO:0097300)2.98239588
94positive regulation of interleukin-2 biosynthetic process (GO:0045086)2.98226955
95positive regulation of tolerance induction (GO:0002645)2.97681119
96regulation of T-helper 1 cell differentiation (GO:0045625)2.96415788
97negative regulation of cytokine production involved in immune response (GO:0002719)2.95429038
98leukocyte cell-cell adhesion (GO:0007159)2.94806536
99regulation of T cell tolerance induction (GO:0002664)2.94740993
100positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)2.93799117
101germinal center formation (GO:0002467)2.92333381
102response to interferon-gamma (GO:0034341)2.92094198
103positive regulation of antigen processing and presentation (GO:0002579)2.91749139
104positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)2.91124721
105interferon-gamma production (GO:0032609)2.90817885
106regulation of antigen processing and presentation (GO:0002577)2.90519863
107cellular response to interleukin-15 (GO:0071350)2.90265910
108positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)2.90124679
109regulation of interferon-beta production (GO:0032648)2.89217330
110regulation of antigen receptor-mediated signaling pathway (GO:0050854)2.88896025
111I-kappaB phosphorylation (GO:0007252)2.88714958
112positive regulation of interleukin-8 biosynthetic process (GO:0045416)2.87306748
113natural killer cell mediated cytotoxicity (GO:0042267)2.86015252
114natural killer cell mediated immunity (GO:0002228)2.86015252
115response to interleukin-15 (GO:0070672)2.84975816
116cellular response to interferon-alpha (GO:0035457)2.81380378
117response to muramyl dipeptide (GO:0032495)2.80817809
118regulation of response to interferon-gamma (GO:0060330)2.80792421
119mature B cell differentiation (GO:0002335)2.80031760
120positive regulation of humoral immune response (GO:0002922)2.79396294
121myeloid dendritic cell activation (GO:0001773)2.78128473
122NIK/NF-kappaB signaling (GO:0038061)2.77490248
123cellular response to interferon-gamma (GO:0071346)2.76615129
124B cell proliferation (GO:0042100)2.76151580
125positive regulation of interferon-gamma biosynthetic process (GO:0045078)2.72932038
126defense response to virus (GO:0051607)2.70166549
127positive regulation of cytokine biosynthetic process (GO:0042108)2.68690490
128positive regulation of alpha-beta T cell proliferation (GO:0046641)2.67568095
129myeloid dendritic cell differentiation (GO:0043011)2.65807618
130positive T cell selection (GO:0043368)2.65706013
131positive regulation of interleukin-12 production (GO:0032735)2.65399748
132T cell selection (GO:0045058)2.64610793
133thymic T cell selection (GO:0045061)2.63137409
134regulation of syncytium formation by plasma membrane fusion (GO:0060142)2.62748908
135regulation of antigen processing and presentation of peptide antigen (GO:0002583)2.62351286

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_22096565_ChIP-ChIP_GC-B_Human7.30255202
2FOXP3_17237761_ChIP-ChIP_TREG_Mouse5.35431423
3IRF8_21731497_ChIP-ChIP_J774_Mouse5.24654365
4IRF1_21803131_ChIP-Seq_MONOCYTES_Human4.69661235
5IRF8_22096565_ChIP-ChIP_GC-B_Mouse4.59144945
6STAT6_20620947_ChIP-Seq_CD4_POS_T_Human4.03913053
7* IRF8_27001747_Chip-Seq_BMDM_Mouse3.63218941
8BP1_19119308_ChIP-ChIP_Hs578T_Human3.61458243
9SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse3.37871674
10MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.37256130
11NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse3.14890825
12STAT3_20064451_ChIP-Seq_CD4+T_Mouse3.07580260
13SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.90033465
14STAT4_19710469_ChIP-ChIP_TH1__Mouse2.74551130
15* MYB_21317192_ChIP-Seq_ERMYB_Mouse2.61728078
16RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.50920110
17RUNX_20019798_ChIP-Seq_JUKART_Human2.45247836
18GATA1_22025678_ChIP-Seq_K562_Human2.43848782
19NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.42290094
20FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse2.36965067
21MYB_26560356_Chip-Seq_TH2_Human2.33580099
22* Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.32963828
23EGR1_19374776_ChIP-ChIP_THP-1_Human2.29345750
24MAF_26560356_Chip-Seq_TH1_Human2.15756311
25MYB_26560356_Chip-Seq_TH1_Human2.10858341
26SCL_19346495_ChIP-Seq_HPC-7_Human2.09314449
27SPI1_23547873_ChIP-Seq_NB4_Human2.02970863
28BRD4_27068464_Chip-Seq_AML-cells_Mouse2.02339763
29RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.90252577
30STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.86570559
31VDR_21846776_ChIP-Seq_THP-1_Human1.78685402
32RUNX1_22412390_ChIP-Seq_EML_Mouse1.76572676
33ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.73889961
34VDR_24763502_ChIP-Seq_THP-1_Human1.73613834
35NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.72854784
36MYC_22102868_ChIP-Seq_BL_Human1.70468615
37UTX_26944678_Chip-Seq_JUKART_Human1.67549306
38PU_27001747_Chip-Seq_BMDM_Mouse1.65481883
39SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.62540366
40SPI1_23127762_ChIP-Seq_K562_Human1.60005581
41E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.58770379
42GATA3_27048872_Chip-Seq_THYMUS_Human1.57988558
43PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.41809309
44CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.41393274
45GATA2_22383799_ChIP-Seq_G1ME_Mouse1.39233927
46FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.39102294
47MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.38464435
48GATA2_21666600_ChIP-Seq_HMVEC_Human1.38166729
49TCF7_22412390_ChIP-Seq_EML_Mouse1.37271829
50CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.34546468
51CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.33525655
52GATA3_26560356_Chip-Seq_TH2_Human1.27948459
53LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.23921431
54MAF_26560356_Chip-Seq_TH2_Human1.19707076
55VDR_24787735_ChIP-Seq_THP-1_Human1.19284411
56PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.15174824
57ELK3_25401928_ChIP-Seq_HUVEC_Human1.11546855
58VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.11149973
59KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.10964354
60STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.10005288
61SMAD_19615063_ChIP-ChIP_OVARY_Human1.08044769
62CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.04309537
63ELF1_17652178_ChIP-ChIP_JURKAT_Human1.03465910
64* EGR1_23403033_ChIP-Seq_LIVER_Mouse1.01816487
65TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.01149230
66NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.99794353
67GATA1_22383799_ChIP-Seq_G1ME_Mouse0.99702484
68LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.99469093
69* CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.98309612
70* CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse0.97792200
71GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.97252530
72BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.96655712
73PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.96187883
74CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.95613950
75KDM2B_26808549_Chip-Seq_SUP-B15_Human0.95243260
76THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.95134210
77KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.93395074
78SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.93311936
79GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.93222390
80FOXO3_23340844_ChIP-Seq_DLD1_Human0.92741438
81SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.91619519
82SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.91479615
83KDM2B_26808549_Chip-Seq_DND41_Human0.90064792
84GATA1_19941827_ChIP-Seq_MEL_Mouse0.89810921
85* PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.89805919
86NOTCH1_21737748_ChIP-Seq_TLL_Human0.88539654
87TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.86710163
88GATA2_19941826_ChIP-Seq_K562_Human0.86442068
89RUNX1_17652178_ChIP-ChIP_JURKAT_Human0.86216293
90TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.85106842
91FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.84147287
92PPARA_22158963_ChIP-Seq_LIVER_Mouse0.83654072
93GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.82666063
94BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.81990247
95VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human0.80505493
96PU.1_20513432_ChIP-Seq_Bcells_Mouse0.79059658
97TP63_17297297_ChIP-ChIP_HaCaT_Human0.79031215
98SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.77908781
99SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.77908781
100GATA1_19941826_ChIP-Seq_K562_Human0.77070257
101SMRT_27268052_Chip-Seq_Bcells_Human0.76188395
102GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.75830865
103TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.75806092
104ERG_20887958_ChIP-Seq_HPC-7_Mouse0.74254081
105CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.73816342
106ESR1_17901129_ChIP-ChIP_LIVER_Mouse0.72984386
107GATA1_19941827_ChIP-Seq_MEL86_Mouse0.72476111
108SOX2_20726797_ChIP-Seq_SW620_Human0.72458130
109EGR1_19032775_ChIP-ChIP_M12_Human0.72305594
110KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.72170520
111FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.70641782
112KDM2B_26808549_Chip-Seq_JURKAT_Human0.67871109
113GATA3_26560356_Chip-Seq_TH1_Human0.62005900
114TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human0.61398992
115* JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.55610792
116CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse0.54548087
117GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human0.53403765

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001835_abnormal_antigen_presentation4.44255473
2MP0009785_altered_susceptibility_to3.40373860
3MP0005387_immune_system_phenotype3.19950099
4MP0001790_abnormal_immune_system3.19950099
5MP0000685_abnormal_immune_system3.06626091
6MP0003436_decreased_susceptibility_to3.04984330
7MP0001800_abnormal_humoral_immune3.02867944
8MP0005000_abnormal_immune_tolerance3.01991838
9MP0003724_increased_susceptibility_to2.96743689
10MP0005671_abnormal_response_to2.94477420
11MP0002452_abnormal_antigen_presenting2.77858607
12MP0005025_abnormal_response_to2.73449601
13MP0002148_abnormal_hypersensitivity_rea2.66187536
14MP0002419_abnormal_innate_immunity2.64435146
15MP0002723_abnormal_immune_serum2.62390876
16MP0003303_peritoneal_inflammation2.61129216
17MP0002420_abnormal_adaptive_immunity2.44506466
18MP0001819_abnormal_immune_cell2.44271241
19MP0006082_CNS_inflammation2.43035764
20MP0002166_altered_tumor_susceptibility2.21420850
21MP0003300_gastrointestinal_ulcer2.18792318
22MP0003763_abnormal_thymus_physiology2.04362951
23MP0005464_abnormal_platelet_physiology2.02579602
24MP0004947_skin_inflammation2.02379371
25MP0005058_abnormal_lysosome_morphology2.01923629
26MP0002006_tumorigenesis1.99285503
27MP0002398_abnormal_bone_marrow1.98453547
28MP0010155_abnormal_intestine_physiology1.96436675
29MP0000716_abnormal_immune_system1.92753121
30MP0002405_respiratory_system_inflammati1.88185735
31MP0001845_abnormal_inflammatory_respons1.87260907
32MP0001873_stomach_inflammation1.85496600
33MP0000689_abnormal_spleen_morphology1.70709712
34MP0001853_heart_inflammation1.69647125
35MP0004510_myositis1.67381307
36MP0001533_abnormal_skeleton_physiology1.66490831
37MP0008260_abnormal_autophagy1.62444638
38MP0009764_decreased_sensitivity_to1.61464467
39MP0008469_abnormal_protein_level1.61162173
40MP0002429_abnormal_blood_cell1.58400806
41MP0002722_abnormal_immune_system1.55922076
42MP0005451_abnormal_body_composition1.55719395
43MP0009278_abnormal_bone_marrow1.53047256
44MP0009333_abnormal_splenocyte_physiolog1.47604338
45MP0003191_abnormal_cellular_cholesterol1.45197203
46MP0000569_abnormal_digit_pigmentation1.44831852
47MP0004808_abnormal_hematopoietic_stem1.39532706
48MP0003448_altered_tumor_morphology1.38627757
49MP0002396_abnormal_hematopoietic_system1.38458778
50MP0001545_abnormal_hematopoietic_system1.33790749
51MP0005397_hematopoietic_system_phenotyp1.33790749
52MP0004883_abnormal_blood_vessel1.33680038
53MP0000465_gastrointestinal_hemorrhage1.30495455
54MP0002138_abnormal_hepatobiliary_system1.26472863
55MP0002998_abnormal_bone_remodeling1.22330692
56MP0003690_abnormal_glial_cell1.22316848
57MP0005310_abnormal_salivary_gland1.21667510
58MP0000858_altered_metastatic_potential1.21518686
59MP0000343_altered_response_to1.20645738
60MP0003866_abnormal_defecation1.19867230
61MP0006054_spinal_hemorrhage1.13668223
62MP0002933_joint_inflammation1.13256610
63MP0001958_emphysema1.11193641
64MP0000703_abnormal_thymus_morphology1.08164790
65MP0003172_abnormal_lysosome_physiology1.07151462
66MP0002136_abnormal_kidney_physiology1.05859259
67MP0003566_abnormal_cell_adhesion1.00615510
68MP0005166_decreased_susceptibility_to0.99878966
69MP0002332_abnormal_exercise_endurance0.99564453
70MP0005174_abnormal_tail_pigmentation0.99519869
71MP0003656_abnormal_erythrocyte_physiolo0.97675051
72MP0009763_increased_sensitivity_to0.93258070
73MP0003183_abnormal_peptide_metabolism0.92409200
74MP0003221_abnormal_cardiomyocyte_apopto0.92070424
75MP0003828_pulmonary_edema0.91796085
76MP0010352_gastrointestinal_tract_polyps0.91474856
77MP0003091_abnormal_cell_migration0.89460278
78MP0003045_fibrosis0.88906834
79MP0005167_abnormal_blood-brain_barrier0.87868632
80MP0003075_altered_response_to0.87427889
81MP0008004_abnormal_stomach_pH0.87100781
82MP0001851_eye_inflammation0.86040501
83MP0004381_abnormal_hair_follicle0.86014539
84MP0000490_abnormal_crypts_of0.85566780
85MP0004130_abnormal_muscle_cell0.85133712
86MP0005023_abnormal_wound_healing0.84295556
87MP0010307_abnormal_tumor_latency0.83166409
88MP0002132_abnormal_respiratory_system0.82184015
89MP0000371_diluted_coat_color0.80900562
90MP0009643_abnormal_urine_homeostasis0.80403223
91MP0000249_abnormal_blood_vessel0.80141424
92MP0005164_abnormal_response_to0.78848869
93MP0005360_urolithiasis0.78630339
94MP0010234_abnormal_vibrissa_follicle0.76888450
95MP0008874_decreased_physiological_sensi0.75581123
96MP0009765_abnormal_xenobiotic_induced0.75050800
97MP0003453_abnormal_keratinocyte_physiol0.74208331
98MP0005390_skeleton_phenotype0.71307125
99MP0009840_abnormal_foam_cell0.71039205
100MP0001879_abnormal_lymphatic_vessel0.70987722
101MP0001663_abnormal_digestive_system0.67900665
102MP0003279_aneurysm0.67686695
103MP0003795_abnormal_bone_structure0.67651240
104MP0003186_abnormal_redox_activity0.65796880
105MP0000609_abnormal_liver_physiology0.65414085
106MP0004782_abnormal_surfactant_physiolog0.64865564
107MP0002019_abnormal_tumor_incidence0.64574702
108MP0008438_abnormal_cutaneous_collagen0.64398223
109MP0005076_abnormal_cell_differentiation0.64102104
110MP0002928_abnormal_bile_duct0.62640414
111MP0002277_abnormal_respiratory_mucosa0.60243215
112MP0000604_amyloidosis0.58869305
113MP0002168_other_aberrant_phenotype0.58186687
114MP0001348_abnormal_lacrimal_gland0.56820710
115MP0003787_abnormal_imprinting0.54540703
116MP0000920_abnormal_myelination0.54499449
117MP0005381_digestive/alimentary_phenotyp0.54439417
118MP0000015_abnormal_ear_pigmentation0.52756870
119MP0009115_abnormal_fat_cell0.50912441
120MP0002693_abnormal_pancreas_physiology0.50451631
121MP0002877_abnormal_melanocyte_morpholog0.47262506
122MP0005075_abnormal_melanosome_morpholog0.45321836

Predicted human phenotypes

RankGene SetZ-score
1Recurrent abscess formation (HP:0002722)5.57198008
2Eczematoid dermatitis (HP:0000976)5.52146088
3Recurrent bacterial skin infections (HP:0005406)5.13534332
4Recurrent viral infections (HP:0004429)4.19502067
5Autoimmune thrombocytopenia (HP:0001973)4.18776819
6Recurrent gram-negative bacterial infections (HP:0005420)4.16782897
7Recurrent fungal infections (HP:0002841)4.15106495
8Elevated erythrocyte sedimentation rate (HP:0003565)4.02690485
9Chronic otitis media (HP:0000389)3.94155795
10Recurrent bronchitis (HP:0002837)3.88304722
11Myositis (HP:0100614)3.85559359
12Mediastinal lymphadenopathy (HP:0100721)3.83371904
13Abnormality of macrophages (HP:0004311)3.77806639
14Recurrent skin infections (HP:0001581)3.70639932
15Vasculitis (HP:0002633)3.69643432
16Agammaglobulinemia (HP:0004432)3.54622391
17Granulocytopenia (HP:0001913)3.49224575
18Chronic mucocutaneous candidiasis (HP:0002728)3.47450508
19Recurrent cutaneous fungal infections (HP:0011370)3.47450508
20Pustule (HP:0200039)3.46428038
21Cellulitis (HP:0100658)3.45676420
22Keratoconjunctivitis (HP:0001096)3.42594892
23Colitis (HP:0002583)3.39650063
24Vacuolated lymphocytes (HP:0001922)3.27327860
25Abnormality of T cell number (HP:0011839)3.26876705
26Abnormal delayed hypersensitivity skin test (HP:0002963)3.24260628
27Inflammation of the large intestine (HP:0002037)3.23648819
28Gastrointestinal stroma tumor (HP:0100723)3.23629674
29T lymphocytopenia (HP:0005403)3.22458839
30IgM deficiency (HP:0002850)3.18454063
31Hypochromic anemia (HP:0001931)3.18187694
32Orchitis (HP:0100796)3.16584952
33Meningitis (HP:0001287)3.10880312
34Nasal polyposis (HP:0100582)3.08527751
35Gastrointestinal inflammation (HP:0004386)3.08175092
36Retrobulbar optic neuritis (HP:0100654)3.04415055
37Optic neuritis (HP:0100653)3.04415055
38Interstitial pulmonary disease (HP:0006530)3.03484225
39Abnormality of eosinophils (HP:0001879)3.02404339
40Abnormality of the nasal mucosa (HP:0000433)3.01244288
41Gingivitis (HP:0000230)3.00971998
42Periodontitis (HP:0000704)2.99420843
43Lymphopenia (HP:0001888)2.95770054
44Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.95587739
45Abnormality of T cells (HP:0002843)2.88333141
46Stomatitis (HP:0010280)2.86897206
47Abnormality of cells of the lymphoid lineage (HP:0012140)2.84784877
48Hematochezia (HP:0002573)2.79458140
49Obstructive lung disease (HP:0006536)2.78818885
50Chronic obstructive pulmonary disease (HP:0006510)2.78818885
51Osteomyelitis (HP:0002754)2.74066583
52Spontaneous hematomas (HP:0007420)2.73456677
53Peritonitis (HP:0002586)2.72940459
54Chronic diarrhea (HP:0002028)2.69412208
55Pulmonary infiltrates (HP:0002113)2.66246214
56Emphysema (HP:0002097)2.65925136
57Panhypogammaglobulinemia (HP:0003139)2.62119987
58Gingival bleeding (HP:0000225)2.61015590
59Autoimmune hemolytic anemia (HP:0001890)2.58072780
60Arterial thrombosis (HP:0004420)2.57794967
61Abnormality of T cell physiology (HP:0011840)2.56666669
62Chronic sinusitis (HP:0011109)2.52258397
63Prostate neoplasm (HP:0100787)2.50374030
64Petechiae (HP:0000967)2.48353429
65Prolonged bleeding time (HP:0003010)2.48083563
66Systemic lupus erythematosus (HP:0002725)2.47412543
67Myocardial infarction (HP:0001658)2.45573204
68Pulmonary embolism (HP:0002204)2.44959986
69Gangrene (HP:0100758)2.43928618
70Thrombocytosis (HP:0001894)2.43623722
71Neonatal hypoglycemia (HP:0001998)2.43442766
72IgA deficiency (HP:0002720)2.43327784
73Basal ganglia calcification (HP:0002135)2.42213993
74Hemoptysis (HP:0002105)2.40056357
75Anorexia (HP:0002039)2.39516393
76Recurrent sinusitis (HP:0011108)2.38599267
77Osteolytic defects of the hand bones (HP:0009699)2.36500934
78Osteolytic defects of the phalanges of the hand (HP:0009771)2.36500934
79Abnormality of the fingertips (HP:0001211)2.34802559
80Thyroiditis (HP:0100646)2.32392378
81Leukocytosis (HP:0001974)2.30934907
82Recurrent pneumonia (HP:0006532)2.29721849
83Increased IgE level (HP:0003212)2.27805614
84Epistaxis (HP:0000421)2.26585063
85Recurrent lower respiratory tract infections (HP:0002783)2.26525656
86Hypergammaglobulinemia (HP:0010702)2.26094109
87Abnormality of the pleura (HP:0002103)2.25463153
88Increased cerebral lipofuscin (HP:0011813)2.24356902
89Encephalitis (HP:0002383)2.22808704
90Skin ulcer (HP:0200042)2.18883920
91Abnormality of the prostate (HP:0008775)2.18116761
92Bronchitis (HP:0012387)2.18048320
93Abnormal platelet volume (HP:0011876)2.16443893
94Abnormality of the endocardium (HP:0004306)2.15849328
95Papilloma (HP:0012740)2.15476683
96Verrucae (HP:0200043)2.15476683
97Increased IgM level (HP:0003496)2.12521747
98IgG deficiency (HP:0004315)2.12395208
99Abnormality of the peritoneum (HP:0002585)2.11056989
100Restrictive lung disease (HP:0002091)2.11052431
101Eosinophilia (HP:0001880)2.09442357
102Joint swelling (HP:0001386)2.08611282
103Increased neuronal autofluorescent lipopigment (HP:0002074)2.07315600
104Glomerulopathy (HP:0100820)2.06042703
105Cheilitis (HP:0100825)2.04152410
106Urticaria (HP:0001025)2.03064712
107Keratoconjunctivitis sicca (HP:0001097)2.02744375
108Dysostosis multiplex (HP:0000943)2.02667496
109Glucose intolerance (HP:0000833)2.02127868
110Gastrointestinal infarctions (HP:0005244)2.01169155
111Sepsis (HP:0100806)1.99716374
112Skin rash (HP:0000988)1.99457920
113Neoplasm of the tracheobronchial system (HP:0100552)1.96464627
114Enlarged epiphyses (HP:0010580)1.95466585
115Mitral stenosis (HP:0001718)1.94024620
116Keratitis (HP:0000491)1.94009344
117Alveolar cell carcinoma (HP:0006519)1.93429284
118Episodic fever (HP:0001954)1.92992865
119Purpura (HP:0000979)1.91388121
120Chest pain (HP:0100749)1.91216805
121Arthralgia (HP:0002829)1.91084162
122Polyneuropathy (HP:0001271)1.88477452
123Slow saccadic eye movements (HP:0000514)1.87964277
124Abnormality of the pericardium (HP:0001697)1.87308241
125Vertigo (HP:0002321)1.87287567
126Abnormality of B cell number (HP:0010975)1.85338971
127Abnormality of liposaccharide metabolism (HP:0010968)1.85199148
128Abnormality of glycosphingolipid metabolism (HP:0004343)1.85199148
129Abnormality of glycolipid metabolism (HP:0010969)1.85199148

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP4K14.31517352
2TYK23.52649491
3MAP3K143.41209884
4JAK32.89932710
5IKBKE2.88493398
6TBK12.84572097
7JAK12.69661103
8TLK12.62267546
9TXK2.57712250
10BLK2.56618410
11KIT2.53919824
12IRAK42.44377730
13FGFR42.26180844
14RIPK42.25439918
15MAP3K132.01178577
16GRK71.98212663
17BMPR21.94923062
18ERN11.90230567
19CSK1.88787218
20PRPF4B1.86404478
21FGFR31.86298818
22ZAP701.85335783
23STK101.82957723
24BTK1.81004892
25IRAK31.76988075
26IKBKB1.74698065
27GRK61.74356820
28TGFBR21.67213301
29SYK1.64084898
30TEC1.62194225
31ITK1.58795928
32LRRK21.52088923
33CSF1R1.49346960
34MAP3K61.47853738
35MST41.45486861
36HCK1.45010229
37MAP3K101.42780388
38LCK1.37845341
39CAMKK21.27430963
40MST1R1.20836313
41MAP2K31.18680919
42MARK31.16377060
43LYN1.14934386
44TTN1.14131012
45PIM11.13028878
46TAOK31.10375604
47EPHB11.10252791
48CHUK1.08878919
49JAK21.03653917
50TRPM70.98539501
51CDK190.98210015
52NEK90.96418073
53RPS6KA40.95127725
54RET0.94612013
55PIK3CG0.91988783
56RIPK10.90034379
57MOS0.87295809
58MAP3K110.80496052
59MATK0.80104336
60CDC42BPA0.78716526
61FES0.78625816
62KDR0.78553477
63MAPK120.75761460
64STK40.74653587
65NME20.74150237
66MAP2K60.74086878
67MAP3K10.73541022
68TGFBR10.72598804
69FLT30.71266094
70PRKCQ0.70939354
71PKN20.69664674
72FRK0.69218122
73NLK0.68535003
74MAP3K30.67999796
75PTK60.67549665
76SIK20.66927053
77EPHA30.66671480
78PBK0.62756476
79PRKCH0.61790618
80PIM20.59459782
81TRIB30.58006143
82TAOK10.56990719
83ABL10.56856895
84IRAK20.56206563
85TAOK20.55391648
86NUAK10.55333576
87TIE10.55075782
88CAMK1D0.54822773
89EGFR0.51721418
90FGR0.50058919
91EEF2K0.49908146
92MAPK70.48995106
93CDK120.48407699
94CLK10.46831174
95GRK50.46733307
96ADRBK20.44930526
97MARK20.44685513
98CDK60.44682602
99PDK10.44421408
100PRKG20.44308885
101CDK90.44037153
102IRAK10.43656121
103PDGFRB0.42805216
104CAMKK10.42338441
105SGK30.42092568
106KSR20.41547648
107PRKCD0.40906689
108MAPK110.40720319
109MAP3K20.40599400
110SIK10.40182434
111PDPK10.37620328
112SIK30.36486738
113BMX0.35694766
114IGF1R0.35665475
115PTK2B0.34449089
116FYN0.33858551
117TNK20.33714614
118STK110.33683081
119HIPK20.33535214
120INSR0.33179732
121GRK10.32627019
122DYRK1B0.32507798
123STK30.31899213
124OXSR10.30060122
125PIK3CA0.29855880
126DDR20.27869482
127YES10.27714724
128EIF2AK20.26936978
129MAPKAPK20.25808036
130PRKD10.24034585
131MAP3K50.23006699
132CDK40.22565284
133MAP2K40.21726353

Predicted pathways (KEGG)

RankGene SetZ-score
1Leishmaniasis_Homo sapiens_hsa051403.09560328
2Primary immunodeficiency_Homo sapiens_hsa053403.04155207
3NF-kappa B signaling pathway_Homo sapiens_hsa040642.83865735
4B cell receptor signaling pathway_Homo sapiens_hsa046622.56837442
5Measles_Homo sapiens_hsa051622.56006064
6Toll-like receptor signaling pathway_Homo sapiens_hsa046202.55188547
7RIG-I-like receptor signaling pathway_Homo sapiens_hsa046222.52098375
8Osteoclast differentiation_Homo sapiens_hsa043802.37144615
9Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.35366384
10Graft-versus-host disease_Homo sapiens_hsa053322.30391819
11Intestinal immune network for IgA production_Homo sapiens_hsa046722.28155744
12Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.24332271
13Staphylococcus aureus infection_Homo sapiens_hsa051502.23524917
14Hematopoietic cell lineage_Homo sapiens_hsa046402.18508903
15NOD-like receptor signaling pathway_Homo sapiens_hsa046212.04342476
16Allograft rejection_Homo sapiens_hsa053302.02669954
17Influenza A_Homo sapiens_hsa051641.99461242
18Malaria_Homo sapiens_hsa051441.96716600
19Antigen processing and presentation_Homo sapiens_hsa046121.95513574
20Herpes simplex infection_Homo sapiens_hsa051681.83990341
21Tuberculosis_Homo sapiens_hsa051521.82894761
22Legionellosis_Homo sapiens_hsa051341.82133812
23Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.80056053
24Pertussis_Homo sapiens_hsa051331.75151933
25Toxoplasmosis_Homo sapiens_hsa051451.72099222
26TNF signaling pathway_Homo sapiens_hsa046681.67537639
27Caffeine metabolism_Homo sapiens_hsa002321.63518721
28T cell receptor signaling pathway_Homo sapiens_hsa046601.58091526
29Jak-STAT signaling pathway_Homo sapiens_hsa046301.56291301
30Leukocyte transendothelial migration_Homo sapiens_hsa046701.43463238
31Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.42499486
32Chemokine signaling pathway_Homo sapiens_hsa040621.41371214
33Hepatitis C_Homo sapiens_hsa051601.41310824
34Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.36568946
35Salmonella infection_Homo sapiens_hsa051321.35273489
36Rheumatoid arthritis_Homo sapiens_hsa053231.32883349
37Hepatitis B_Homo sapiens_hsa051611.32846659
38Apoptosis_Homo sapiens_hsa042101.31435835
39Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.24662266
40Shigellosis_Homo sapiens_hsa051311.24408543
41African trypanosomiasis_Homo sapiens_hsa051431.22767275
42Asthma_Homo sapiens_hsa053101.18816962
43Viral myocarditis_Homo sapiens_hsa054161.14497391
44Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.13501911
45Lysosome_Homo sapiens_hsa041421.11481226
46AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.10483375
47Platelet activation_Homo sapiens_hsa046111.06332512
48Other glycan degradation_Homo sapiens_hsa005111.04094569
49Autoimmune thyroid disease_Homo sapiens_hsa053200.95979677
50Type I diabetes mellitus_Homo sapiens_hsa049400.92812318
51Acute myeloid leukemia_Homo sapiens_hsa052210.89815790
52Phagosome_Homo sapiens_hsa041450.86215708
53Pancreatic cancer_Homo sapiens_hsa052120.82107511
54Glycosaminoglycan degradation_Homo sapiens_hsa005310.80232258
55Chronic myeloid leukemia_Homo sapiens_hsa052200.80119058
56Small cell lung cancer_Homo sapiens_hsa052220.77093555
57Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.76594333
58Transcriptional misregulation in cancer_Homo sapiens_hsa052020.71987070
59Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.69818963
60Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.67850601
61Prolactin signaling pathway_Homo sapiens_hsa049170.67776966
62Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.65336193
63Complement and coagulation cascades_Homo sapiens_hsa046100.65319635
64Amoebiasis_Homo sapiens_hsa051460.64621074
65Renal cell carcinoma_Homo sapiens_hsa052110.63481010
66Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.61066440
67Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.58566305
68Epstein-Barr virus infection_Homo sapiens_hsa051690.58060040
69Adipocytokine signaling pathway_Homo sapiens_hsa049200.57391421
70Viral carcinogenesis_Homo sapiens_hsa052030.56593468
71Insulin resistance_Homo sapiens_hsa049310.53646634
72Pentose and glucuronate interconversions_Homo sapiens_hsa000400.52772253
73Neurotrophin signaling pathway_Homo sapiens_hsa047220.51126723
74ABC transporters_Homo sapiens_hsa020100.48296678
75Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.46929549
76HIF-1 signaling pathway_Homo sapiens_hsa040660.45237574
77Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.44550835
78Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.44535621
79mTOR signaling pathway_Homo sapiens_hsa041500.43823564
80HTLV-I infection_Homo sapiens_hsa051660.42411202
81Proteoglycans in cancer_Homo sapiens_hsa052050.42222135
82Phosphatidylinositol signaling system_Homo sapiens_hsa040700.41412564
83Regulation of actin cytoskeleton_Homo sapiens_hsa048100.40602805
84Renin-angiotensin system_Homo sapiens_hsa046140.40387063
85VEGF signaling pathway_Homo sapiens_hsa043700.39670640
86Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.39384039
87Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.37845499
88Endometrial cancer_Homo sapiens_hsa052130.37375616
89Mineral absorption_Homo sapiens_hsa049780.37019766
90Focal adhesion_Homo sapiens_hsa045100.36829258
91Carbohydrate digestion and absorption_Homo sapiens_hsa049730.36185637
92FoxO signaling pathway_Homo sapiens_hsa040680.35811680
93Non-small cell lung cancer_Homo sapiens_hsa052230.35550549
94Phospholipase D signaling pathway_Homo sapiens_hsa040720.34728529
95Notch signaling pathway_Homo sapiens_hsa043300.34073061
96Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.32650498
97Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.31684557
98Sphingolipid signaling pathway_Homo sapiens_hsa040710.30778501
99MAPK signaling pathway_Homo sapiens_hsa040100.29037843
100Endocytosis_Homo sapiens_hsa041440.28014542
101Choline metabolism in cancer_Homo sapiens_hsa052310.27756267
102SNARE interactions in vesicular transport_Homo sapiens_hsa041300.27475886
103Systemic lupus erythematosus_Homo sapiens_hsa053220.25876833
104Glioma_Homo sapiens_hsa052140.25280833
105Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.24902279
106ErbB signaling pathway_Homo sapiens_hsa040120.23813585
107GnRH signaling pathway_Homo sapiens_hsa049120.23180816
108MicroRNAs in cancer_Homo sapiens_hsa052060.22857244
109Adherens junction_Homo sapiens_hsa045200.22853563
110Colorectal cancer_Homo sapiens_hsa052100.21695723
111p53 signaling pathway_Homo sapiens_hsa041150.21060676
112Prostate cancer_Homo sapiens_hsa052150.20138768
113Type II diabetes mellitus_Homo sapiens_hsa049300.20086286
114Inositol phosphate metabolism_Homo sapiens_hsa005620.19606492
115Lysine degradation_Homo sapiens_hsa003100.16988693
116Dorso-ventral axis formation_Homo sapiens_hsa043200.16620384

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