SH2D2A

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 an adaptor protein thought to function in T-cell signal transduction. A related protein in mouse is responsible for the activation of lymphocyte-specific protein-tyrosine kinase and functions in downstream signaling. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1negative T cell selection (GO:0043383)8.12113703
2negative thymic T cell selection (GO:0045060)7.94203001
3positive regulation of gamma-delta T cell activation (GO:0046645)7.53623832
4positive thymic T cell selection (GO:0045059)7.26907234
5regulation of isotype switching to IgG isotypes (GO:0048302)7.24973115
6regulation of gamma-delta T cell differentiation (GO:0045586)7.11304706
7positive T cell selection (GO:0043368)6.75135347
8thymic T cell selection (GO:0045061)6.74557834
9cytidine metabolic process (GO:0046087)6.71440587
10cytidine catabolic process (GO:0006216)6.71440587
11cytidine deamination (GO:0009972)6.71440587
12response to interleukin-15 (GO:0070672)6.63224463
13cellular response to interleukin-15 (GO:0071350)6.59264179
14positive regulation of interleukin-2 biosynthetic process (GO:0045086)6.55664214
15regulation of gamma-delta T cell activation (GO:0046643)6.42986844
16interferon-gamma production (GO:0032609)6.40614691
17T cell selection (GO:0045058)6.18290090
18pyrimidine ribonucleoside catabolic process (GO:0046133)6.09769055
19positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)5.92523111
20regulation of T cell tolerance induction (GO:0002664)5.85234534
21negative regulation of cell killing (GO:0031342)5.73720985
22negative regulation of leukocyte mediated cytotoxicity (GO:0001911)5.73720985
23leukocyte aggregation (GO:0070486)5.67248969
24antigen processing and presentation of endogenous peptide antigen (GO:0002483)5.58382509
25antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)5.58382509
26T cell receptor signaling pathway (GO:0050852)5.50631641
27T cell migration (GO:0072678)5.49959114
28T cell costimulation (GO:0031295)5.28078999
29lymphocyte costimulation (GO:0031294)5.22745233
30DNA deamination (GO:0045006)5.19020408
31regulation of interleukin-2 biosynthetic process (GO:0045076)5.03303798
32regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)5.02770130
33regulation of B cell receptor signaling pathway (GO:0050855)4.96341375
34tolerance induction (GO:0002507)4.93815485
35regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450914.87429825
36positive regulation of isotype switching (GO:0045830)4.86301591
37positive regulation of tolerance induction (GO:0002645)4.78716881
38activated T cell proliferation (GO:0050798)4.76090385
39regulation of interleukin-12 biosynthetic process (GO:0045075)4.75431959
40antigen processing and presentation of endogenous antigen (GO:0019883)4.74991635
41regulation of alpha-beta T cell proliferation (GO:0046640)4.64802907
42antigen receptor-mediated signaling pathway (GO:0050851)4.60511967
43positive regulation of alpha-beta T cell proliferation (GO:0046641)4.54857618
44regulation of regulatory T cell differentiation (GO:0045589)4.47596302
45regulation of isotype switching (GO:0045191)4.40447652
46positive regulation of interleukin-2 production (GO:0032743)4.38529023
47regulation of T cell receptor signaling pathway (GO:0050856)4.37212179
48positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)4.31393427
49positive regulation of natural killer cell mediated immunity (GO:0002717)4.31393427
50regulation of natural killer cell mediated cytotoxicity (GO:0042269)4.31000117
51regulation of natural killer cell mediated immunity (GO:0002715)4.31000117
52regulation of antigen receptor-mediated signaling pathway (GO:0050854)4.24757518
53positive regulation of DNA recombination (GO:0045911)4.21246164
54regulation of lymphocyte chemotaxis (GO:1901623)4.21029370
55regulation of tolerance induction (GO:0002643)4.20894998
56positive regulation of B cell mediated immunity (GO:0002714)4.18027059
57positive regulation of immunoglobulin mediated immune response (GO:0002891)4.18027059
58regulation of immunoglobulin mediated immune response (GO:0002889)4.05796084
59negative regulation by host of viral transcription (GO:0043922)4.03904634
60regulation of B cell mediated immunity (GO:0002712)3.92359105
61positive regulation of T cell mediated cytotoxicity (GO:0001916)3.92276169
62regulation of interferon-gamma-mediated signaling pathway (GO:0060334)3.85391640
63regulation of response to interferon-gamma (GO:0060330)3.83835524
64regulation of immunoglobulin production (GO:0002637)3.81503844
65positive regulation of immunoglobulin production (GO:0002639)3.80523017
66positive regulation of humoral immune response (GO:0002922)3.75141766
67regulation of T cell mediated cytotoxicity (GO:0001914)3.74961757
68T cell differentiation (GO:0030217)3.71295583
69mast cell activation (GO:0045576)3.64850781
70positive regulation of lymphocyte migration (GO:2000403)3.64452350
71alpha-beta T cell differentiation (GO:0046632)3.60331217
72positive regulation of leukocyte mediated cytotoxicity (GO:0001912)3.60287145
73CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)3.60065388
74regulation of activation of Janus kinase activity (GO:0010533)3.59389214
75cellular defense response (GO:0006968)3.54281838
76positive regulation of calcium-mediated signaling (GO:0050850)3.53710108
77alpha-beta T cell activation (GO:0046631)3.53248476
78negative regulation of antigen receptor-mediated signaling pathway (GO:0050858)3.52210106
79negative regulation of T cell receptor signaling pathway (GO:0050860)3.52128230
80regulation of leukocyte mediated cytotoxicity (GO:0001910)3.51905086
81negative regulation of viral genome replication (GO:0045071)3.51140483
82NIK/NF-kappaB signaling (GO:0038061)3.48213846
83T cell activation (GO:0042110)3.46056053
84regulation of interleukin-2 production (GO:0032663)3.45230226
85negative regulation of T cell mediated immunity (GO:0002710)3.43959638
86negative regulation of T cell apoptotic process (GO:0070233)3.42960233
87JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)3.40765169
88positive regulation of cell killing (GO:0031343)3.40256688
89natural killer cell activation (GO:0030101)3.40204113
90sequestering of actin monomers (GO:0042989)3.38620826
91T cell homeostasis (GO:0043029)3.37433189
92granulocyte activation (GO:0036230)3.37118343
93positive regulation of granulocyte differentiation (GO:0030854)3.36461793
94positive regulation of T cell chemotaxis (GO:0010820)3.34546822
95regulation of T cell chemotaxis (GO:0010819)3.34546822
96leukocyte cell-cell adhesion (GO:0007159)3.34275270
97regulation of cell killing (GO:0031341)3.33275670
98myeloid dendritic cell differentiation (GO:0043011)3.32495281
99regulation of B cell differentiation (GO:0045577)3.31559425
100positive regulation of B cell differentiation (GO:0045579)3.30512939
101regulation of type I interferon-mediated signaling pathway (GO:0060338)3.28350256
102lymphocyte migration (GO:0072676)3.28253986
103mucosal-associated lymphoid tissue development (GO:0048537)3.27217337
104Peyers patch development (GO:0048541)3.27217337
105negative regulation of lymphocyte mediated immunity (GO:0002707)3.26680314
106positive regulation of interleukin-4 production (GO:0032753)3.26079335
107positive regulation of lymphocyte mediated immunity (GO:0002708)3.23944199
108eosinophil chemotaxis (GO:0048245)3.21840196
109positive regulation of T cell activation (GO:0050870)3.21830389
110type I interferon signaling pathway (GO:0060337)3.20021473
111cellular response to type I interferon (GO:0071357)3.20021473
112immune response-activating cell surface receptor signaling pathway (GO:0002429)3.19917582
113positive regulation of defense response to virus by host (GO:0002230)3.18980450
114regulation of lymphocyte mediated immunity (GO:0002706)3.18402484
115response to type I interferon (GO:0034340)3.16078914
116T cell differentiation involved in immune response (GO:0002292)3.15374584
117alpha-beta T cell differentiation involved in immune response (GO:0002293)3.15374584
118alpha-beta T cell activation involved in immune response (GO:0002287)3.15374584
119T-helper cell differentiation (GO:0042093)3.14798872
120CD4-positive, alpha-beta T cell differentiation involved in immune response (GO:0002294)3.14798872
121antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.14494221
122myeloid dendritic cell activation (GO:0001773)3.13145137
123regulation of lymphocyte migration (GO:2000401)3.10414761
124regulation of defense response to virus by virus (GO:0050690)3.09412394
125regulation of chronic inflammatory response (GO:0002676)3.09037010
126regulation of interleukin-4 production (GO:0032673)3.08061664
127defense response to protozoan (GO:0042832)3.07769117
128negative regulation of leukocyte mediated immunity (GO:0002704)3.06540457
129negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)3.04282686
130positive regulation of type I interferon-mediated signaling pathway (GO:0060340)3.04259246
131positive regulation of T cell mediated immunity (GO:0002711)3.03686104
132positive regulation of T cell differentiation (GO:0045582)3.02592096
133T cell proliferation (GO:0042098)3.02327865
134regulation of alpha-beta T cell activation (GO:0046634)3.02250502
135positive regulation of inflammatory response to antigenic stimulus (GO:0002863)3.01563732

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXP3_17237761_ChIP-ChIP_TREG_Mouse7.84104104
2STAT6_20620947_ChIP-Seq_CD4_POS_T_Human6.28086408
3STAT3_20064451_ChIP-Seq_CD4+T_Mouse3.90324190
4MYC_22102868_ChIP-Seq_BL_Human3.82528857
5STAT4_19710469_ChIP-ChIP_TH1__Mouse3.73854716
6IRF8_22096565_ChIP-ChIP_GC-B_Mouse3.73048163
7RUNX_20019798_ChIP-Seq_JUKART_Human3.65792406
8E2F7_22180533_ChIP-Seq_HELA_Human3.55513244
9IRF8_22096565_ChIP-ChIP_GC-B_Human3.54711483
10FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse3.52378474
11MYB_26560356_Chip-Seq_TH2_Human3.36859120
12IRF1_21803131_ChIP-Seq_MONOCYTES_Human3.35974963
13MAF_26560356_Chip-Seq_TH1_Human3.01356739
14NOTCH1_21737748_ChIP-Seq_TLL_Human3.00390185
15MYB_26560356_Chip-Seq_TH1_Human2.85515385
16MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.85320950
17UTX_26944678_Chip-Seq_JUKART_Human2.77202088
18SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.69359202
19NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.48327298
20BP1_19119308_ChIP-ChIP_Hs578T_Human2.43912752
21EGR1_19374776_ChIP-ChIP_THP-1_Human2.29224427
22VDR_21846776_ChIP-Seq_THP-1_Human2.23052951
23MAF_26560356_Chip-Seq_TH2_Human2.21514852
24RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.19652334
25SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.17481690
26SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.16900829
27IRF8_21731497_ChIP-ChIP_J774_Mouse2.16249869
28KDM2B_26808549_Chip-Seq_HPB-ALL_Human2.09011603
29GATA3_27048872_Chip-Seq_THYMUS_Human1.98592075
30RUNX1_22412390_ChIP-Seq_EML_Mouse1.97768598
31TCF7_22412390_ChIP-Seq_EML_Mouse1.89467164
32ELF1_17652178_ChIP-ChIP_JURKAT_Human1.85394303
33E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.84572516
34SPI1_23547873_ChIP-Seq_NB4_Human1.79791907
35NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.77317304
36CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.77224034
37SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.75322696
38KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.72863120
39ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.68549916
40VDR_24763502_ChIP-Seq_THP-1_Human1.68279310
41FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.67809294
42EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.65798368
43MYB_21317192_ChIP-Seq_ERMYB_Mouse1.63280739
44KDM2B_26808549_Chip-Seq_DND41_Human1.61438489
45E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.61392489
46IRF8_27001747_Chip-Seq_BMDM_Mouse1.56639706
47RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.54830115
48GATA1_22025678_ChIP-Seq_K562_Human1.54449265
49TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.51067046
50MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.46530724
51RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.45410713
52VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.43918152
53CIITA_25753668_ChIP-Seq_RAJI_Human1.43577702
54KDM2B_26808549_Chip-Seq_SUP-B15_Human1.35794466
55BRD4_27068464_Chip-Seq_AML-cells_Mouse1.34295347
56* VDR_23849224_ChIP-Seq_CD4+_Human1.33923095
57SCL_19346495_ChIP-Seq_HPC-7_Human1.33662149
58SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.33140521
59FOXP3_21729870_ChIP-Seq_TREG_Human1.31307278
60SMAD_19615063_ChIP-ChIP_OVARY_Human1.25835357
61SPI1_23127762_ChIP-Seq_K562_Human1.24080386
62GATA3_26560356_Chip-Seq_TH2_Human1.18380151
63GATA2_22383799_ChIP-Seq_G1ME_Mouse1.16604543
64GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.13997373
65NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.12684481
66E2F4_17652178_ChIP-ChIP_JURKAT_Human1.11618882
67ELK3_25401928_ChIP-Seq_HUVEC_Human1.11138167
68BCL6_27268052_Chip-Seq_Bcells_Human1.10744694
69JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.09138151
70KDM2B_26808549_Chip-Seq_JURKAT_Human1.08919349
71PU_27001747_Chip-Seq_BMDM_Mouse1.06916658
72FOXM1_23109430_ChIP-Seq_U2OS_Human1.05387986
73* CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.04039251
74NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.03517714
75ERG_20887958_ChIP-Seq_HPC-7_Mouse0.98438898
76PU.1_20513432_ChIP-Seq_Bcells_Mouse0.98437278
77ELF1_20517297_ChIP-Seq_JURKAT_Human0.96772747
78PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.95828950
79* CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.94362459
80TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse0.92774640
81* CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse0.92596044
82BCOR_27268052_Chip-Seq_Bcells_Human0.92164928
83HOXB4_20404135_ChIP-ChIP_EML_Mouse0.92081891
84* PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.91459442
85LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.90252211
86DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.87923588
87FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.87606184
88RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.87567805
89ELK1_19687146_ChIP-ChIP_HELA_Human0.86506221
90GABP_17652178_ChIP-ChIP_JURKAT_Human0.86272844
91P300_27268052_Chip-Seq_Bcells_Human0.86132534
92GATA3_26560356_Chip-Seq_TH1_Human0.85547844
93GATA1_19941827_ChIP-Seq_MEL_Mouse0.85274478
94HCFC1_20581084_ChIP-Seq_MESCs_Mouse0.83547824
95SA1_27219007_Chip-Seq_Bcells_Human0.82933304
96TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.82803617
97MYC_18555785_ChIP-Seq_MESCs_Mouse0.82406517
98SRY_22984422_ChIP-ChIP_TESTIS_Rat0.81352151
99CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.80885345
100SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.80347386
101EST1_17652178_ChIP-ChIP_JURKAT_Human0.80132265
102XRN2_22483619_ChIP-Seq_HELA_Human0.78621848
103STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.77903612
104GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.77633608
105NCOR1_26117541_ChIP-Seq_K562_Human0.77630484
106VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human0.77587532
107EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.76680598
108LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.76133013
109SOX11_23321250_ChIP-ChIP_Z138-A519-JVM2_Human0.75721237
110* PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.74878081
111GATA1_22383799_ChIP-Seq_G1ME_Mouse0.73962200
112* CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse0.73090772
113FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse0.70810300
114KDM5A_27292631_Chip-Seq_BREAST_Human0.69850483
115RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human0.69610297
116THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.67666173
117MYC_19079543_ChIP-ChIP_MESCs_Mouse0.66426506
118BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.64983039

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003763_abnormal_thymus_physiology5.94878252
2MP0005671_abnormal_response_to5.06856303
3MP0000685_abnormal_immune_system3.67944722
4MP0001835_abnormal_antigen_presentation3.39075126
5MP0001800_abnormal_humoral_immune3.35336668
6MP0001790_abnormal_immune_system3.14356766
7MP0005387_immune_system_phenotype3.14356766
8MP0005000_abnormal_immune_tolerance3.09231590
9MP0002166_altered_tumor_susceptibility2.96743854
10MP0009333_abnormal_splenocyte_physiolog2.94799227
11MP0006082_CNS_inflammation2.87123818
12* MP0002420_abnormal_adaptive_immunity2.85223512
13* MP0002398_abnormal_bone_marrow2.84990453
14MP0009785_altered_susceptibility_to2.84770215
15* MP0002723_abnormal_immune_serum2.83912315
16MP0002405_respiratory_system_inflammati2.81935829
17* MP0001819_abnormal_immune_cell2.80652375
18MP0000703_abnormal_thymus_morphology2.78832907
19MP0003436_decreased_susceptibility_to2.73978553
20MP0001873_stomach_inflammation2.65762922
21MP0002452_abnormal_antigen_presenting2.62054131
22MP0005025_abnormal_response_to2.47414263
23* MP0000716_abnormal_immune_system2.46052675
24MP0002006_tumorigenesis2.45998506
25MP0003724_increased_susceptibility_to2.41878592
26MP0002722_abnormal_immune_system2.36170803
27MP0002933_joint_inflammation2.33425721
28MP0003866_abnormal_defecation2.33208860
29MP0003300_gastrointestinal_ulcer2.29053632
30MP0002396_abnormal_hematopoietic_system2.25625380
31MP0000689_abnormal_spleen_morphology2.25053541
32MP0010155_abnormal_intestine_physiology2.24112041
33MP0004510_myositis2.15460222
34MP0004947_skin_inflammation2.14118696
35* MP0002429_abnormal_blood_cell1.99279350
36MP0002148_abnormal_hypersensitivity_rea1.89332630
37MP0003303_peritoneal_inflammation1.81096562
38MP0001853_heart_inflammation1.75233989
39MP0002419_abnormal_innate_immunity1.71860871
40MP0001845_abnormal_inflammatory_respons1.71828831
41MP0005310_abnormal_salivary_gland1.58633930
42MP0002277_abnormal_respiratory_mucosa1.51210217
43MP0004808_abnormal_hematopoietic_stem1.47504402
44MP0005464_abnormal_platelet_physiology1.45400670
45MP0000858_altered_metastatic_potential1.45397847
46MP0004381_abnormal_hair_follicle1.37841858
47MP0002132_abnormal_respiratory_system1.26771018
48MP0001533_abnormal_skeleton_physiology1.23154398
49MP0003448_altered_tumor_morphology1.19101583
50MP0002877_abnormal_melanocyte_morpholog1.17878880
51MP0000490_abnormal_crypts_of1.15267783
52MP0000465_gastrointestinal_hemorrhage1.13735253
53MP0001851_eye_inflammation1.12793789
54MP0005451_abnormal_body_composition1.09400764
55MP0008057_abnormal_DNA_replication1.08975482
56MP0002019_abnormal_tumor_incidence1.08123543
57MP0002163_abnormal_gland_morphology1.05504593
58MP0008469_abnormal_protein_level1.04679953
59MP0003786_premature_aging0.97546064
60MP0005075_abnormal_melanosome_morpholog0.97169202
61MP0002138_abnormal_hepatobiliary_system0.96268011
62MP0002998_abnormal_bone_remodeling0.94116583
63MP0008961_abnormal_basal_metabolism0.91023572
64MP0002009_preneoplasia0.87961277
65MP0003077_abnormal_cell_cycle0.75479922
66MP0010352_gastrointestinal_tract_polyps0.74128898
67MP0005397_hematopoietic_system_phenotyp0.73906572
68MP0001545_abnormal_hematopoietic_system0.73906572
69MP0001919_abnormal_reproductive_system0.73216408
70MP0005023_abnormal_wound_healing0.67164593
71MP0000372_irregular_coat_pigmentation0.66997803
72MP0009763_increased_sensitivity_to0.66867107
73MP0003045_fibrosis0.66361185
74MP0008873_increased_physiological_sensi0.65201759
75MP0003693_abnormal_embryo_hatching0.65025056
76MP0001727_abnormal_embryo_implantation0.63724859
77MP0005076_abnormal_cell_differentiation0.63444648
78MP0009765_abnormal_xenobiotic_induced0.60552138
79MP0004957_abnormal_blastocyst_morpholog0.59680012
80MP0001243_abnormal_dermal_layer0.58797107
81MP0003795_abnormal_bone_structure0.57987878
82MP0000604_amyloidosis0.57933859
83MP0010094_abnormal_chromosome_stability0.57901276
84MP0001663_abnormal_digestive_system0.57019002
85MP0000477_abnormal_intestine_morphology0.55762398
86MP0000609_abnormal_liver_physiology0.55246315
87MP0010307_abnormal_tumor_latency0.53549767
88MP0008007_abnormal_cellular_replicative0.53055106
89MP0001348_abnormal_lacrimal_gland0.52984116
90MP0002136_abnormal_kidney_physiology0.49834583
91MP0001881_abnormal_mammary_gland0.49458468
92MP0009764_decreased_sensitivity_to0.49367564
93MP0005390_skeleton_phenotype0.48359270
94MP0005166_decreased_susceptibility_to0.47837053
95MP0003806_abnormal_nucleotide_metabolis0.46492167
96MP0002822_catalepsy0.46474871
97MP0000313_abnormal_cell_death0.45544421
98MP0004782_abnormal_surfactant_physiolog0.44563629
99MP0002693_abnormal_pancreas_physiology0.44222051
100MP0000015_abnormal_ear_pigmentation0.43601673
101MP0001191_abnormal_skin_condition0.43024933
102MP0008058_abnormal_DNA_repair0.42000806
103MP0009278_abnormal_bone_marrow0.41645217
104MP0003453_abnormal_keratinocyte_physiol0.40882372
105MP0003959_abnormal_lean_body0.40081918
106MP0001216_abnormal_epidermal_layer0.39818735
107MP0003172_abnormal_lysosome_physiology0.38710325
108MP0005174_abnormal_tail_pigmentation0.38623493
109MP0000249_abnormal_blood_vessel0.38312827
110MP0000367_abnormal_coat/_hair0.37427148
111MP0002095_abnormal_skin_pigmentation0.37330776
112MP0003111_abnormal_nucleus_morphology0.37160065
113MP0001765_abnormal_ion_homeostasis0.36589764
114MP0000920_abnormal_myelination0.36472347
115MP0005381_digestive/alimentary_phenotyp0.35610750
116MP0002083_premature_death0.35448739
117MP0002254_reproductive_system_inflammat0.34178231
118MP0005584_abnormal_enzyme/coenzyme_acti0.34017167
119MP0006035_abnormal_mitochondrial_morpho0.32216095
120MP0005379_endocrine/exocrine_gland_phen0.32196461
121MP0003183_abnormal_peptide_metabolism0.31185963
122MP0001502_abnormal_circadian_rhythm0.30947192
123MP0001661_extended_life_span0.30764662
124MP0005319_abnormal_enzyme/_coenzyme0.29876173

Predicted human phenotypes

RankGene SetZ-score
1T lymphocytopenia (HP:0005403)7.68534112
2Abnormality of T cell number (HP:0011839)7.38299495
3Severe combined immunodeficiency (HP:0004430)6.69385460
4Combined immunodeficiency (HP:0005387)6.12983226
5Stomatitis (HP:0010280)6.09922748
6Abnormality of T cells (HP:0002843)5.66269574
7Elevated erythrocyte sedimentation rate (HP:0003565)5.46868479
8Panhypogammaglobulinemia (HP:0003139)5.19920868
9Recurrent bronchitis (HP:0002837)5.18830465
10IgG deficiency (HP:0004315)4.87344502
11Recurrent fungal infections (HP:0002841)4.78720555
12IgM deficiency (HP:0002850)4.71319020
13Eczematoid dermatitis (HP:0000976)4.69051385
14Nasal polyposis (HP:0100582)4.61034398
15B lymphocytopenia (HP:0010976)4.39730971
16Abnormality of B cell number (HP:0010975)4.39730971
17Chronic diarrhea (HP:0002028)4.30531735
18Increased IgM level (HP:0003496)4.25152381
19Recurrent viral infections (HP:0004429)4.14673029
20Chronic mucocutaneous candidiasis (HP:0002728)4.11478969
21Recurrent cutaneous fungal infections (HP:0011370)4.11478969
22Myositis (HP:0100614)3.90964363
23Chronic otitis media (HP:0000389)3.90060105
24Abnormality of eosinophils (HP:0001879)3.86662349
25Abnormality of T cell physiology (HP:0011840)3.85766502
26Thyroiditis (HP:0100646)3.80840661
27Autoimmune hemolytic anemia (HP:0001890)3.78235459
28Abnormality of the nasal mucosa (HP:0000433)3.75321806
29Recurrent bacterial skin infections (HP:0005406)3.73053053
30Lymphopenia (HP:0001888)3.71541187
31Abnormal delayed hypersensitivity skin test (HP:0002963)3.65896139
32Abnormality of macrophages (HP:0004311)3.64764267
33Joint swelling (HP:0001386)3.61049250
34Abnormality of cells of the lymphoid lineage (HP:0012140)3.60509544
35Pustule (HP:0200039)3.58873425
36Gastrointestinal infarctions (HP:0005244)3.51427974
37Eosinophilia (HP:0001880)3.49009557
38Leukocytosis (HP:0001974)3.42215267
39Abnormality of the fingertips (HP:0001211)3.41978665
40IgA deficiency (HP:0002720)3.26750188
41Hypoplasia of the thymus (HP:0000778)3.23207418
42Recurrent sinusitis (HP:0011108)3.13457419
43Optic neuritis (HP:0100653)3.09518624
44Retrobulbar optic neuritis (HP:0100654)3.09518624
45Meningitis (HP:0001287)3.06097207
46Vasculitis (HP:0002633)3.02581428
47Granulocytopenia (HP:0001913)2.99158760
48Pulmonary infiltrates (HP:0002113)2.96649296
49Lymphoma (HP:0002665)2.93608788
50Hemoptysis (HP:0002105)2.93087439
51Mediastinal lymphadenopathy (HP:0100721)2.91915888
52Bronchitis (HP:0012387)2.91553542
53Hypoproteinemia (HP:0003075)2.80883746
54Orchitis (HP:0100796)2.76568457
55Chronic obstructive pulmonary disease (HP:0006510)2.70710021
56Obstructive lung disease (HP:0006536)2.70710021
57Hypergammaglobulinemia (HP:0010702)2.65728358
58Encephalitis (HP:0002383)2.58421563
59Inflammation of the large intestine (HP:0002037)2.52919993
60Recurrent abscess formation (HP:0002722)2.52314670
61Aplastic anemia (HP:0001915)2.51423625
62Arterial thrombosis (HP:0004420)2.51355563
63Hypochromic anemia (HP:0001931)2.50322181
64Agammaglobulinemia (HP:0004432)2.48999651
65Autoimmune thrombocytopenia (HP:0001973)2.48691981
66Recurrent skin infections (HP:0001581)2.48423627
67Gastrointestinal inflammation (HP:0004386)2.45109607
68Chest pain (HP:0100749)2.43560281
69Increased IgE level (HP:0003212)2.40506647
70Basal cell carcinoma (HP:0002671)2.39351301
71Abnormality of the prostate (HP:0008775)2.38892761
72Increased density of long bones (HP:0006392)2.38840944
73Ureteral stenosis (HP:0000071)2.34201896
74Recurrent otitis media (HP:0000403)2.32683486
75Thrombocytosis (HP:0001894)2.27199964
76Keratitis (HP:0000491)2.27071556
77Spontaneous hematomas (HP:0007420)2.26412048
78Acute hepatic failure (HP:0006554)2.25331881
79Amaurosis fugax (HP:0100576)2.21789867
80Urticaria (HP:0001025)2.16979209
81Cheilitis (HP:0100825)2.16779621
82Keratoconjunctivitis sicca (HP:0001097)2.16080569
83Hemiplegia (HP:0002301)2.13785200
84Ureteral obstruction (HP:0006000)2.12123745
85Pulmonary embolism (HP:0002204)2.10234864
86Chronic sinusitis (HP:0011109)2.09944387
87Gastrointestinal stroma tumor (HP:0100723)2.07360311
88Epistaxis (HP:0000421)2.06030647
89Papilloma (HP:0012740)2.05655682
90Verrucae (HP:0200043)2.05655682
91Glomerulopathy (HP:0100820)2.02730371
92Aplasia/Hypoplasia of the thymus (HP:0010515)2.00798460
93Skin rash (HP:0000988)2.00749822
94Bronchiectasis (HP:0002110)2.00511685
95Gangrene (HP:0100758)1.96977533
96Colitis (HP:0002583)1.96807001
97Increased serum ferritin (HP:0003281)1.95141912
98Emphysema (HP:0002097)1.93310699
99Recurrent gram-negative bacterial infections (HP:0005420)1.93147597
100Keratoconjunctivitis (HP:0001096)1.93026810
101Hepatitis (HP:0012115)1.91861469
102Gingivitis (HP:0000230)1.91333402
103Premature loss of primary teeth (HP:0006323)1.91125952
104Episodic fever (HP:0001954)1.90810263
105Anorexia (HP:0002039)1.88812337
106Abnormality of the pericardium (HP:0001697)1.82714922
107Diplopia (HP:0000651)1.82699089
108Abnormality of binocular vision (HP:0011514)1.82699089
109Polyneuropathy (HP:0001271)1.81856087
110Hepatosplenomegaly (HP:0001433)1.81496086
111Arthralgia (HP:0002829)1.81164915
112Gingival bleeding (HP:0000225)1.79069834
113Pulmonary fibrosis (HP:0002206)1.77993407
114Prolonged bleeding time (HP:0003010)1.77962469
115Amyotrophic lateral sclerosis (HP:0007354)1.77068943
116Persistence of primary teeth (HP:0006335)1.74943513
117Seborrheic dermatitis (HP:0001051)1.74628133
118Skin ulcer (HP:0200042)1.74314243
119Abnormal platelet volume (HP:0011876)1.71145364
120Abnormality of the pleura (HP:0002103)1.69980829

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TXK6.85800395
2MAP4K16.39100037
3ZAP703.83778004
4ITK3.29849397
5JAK33.25223171
6RIPK42.87140563
7FGFR42.56518366
8IKBKE2.34458634
9STK102.26216151
10MAP3K142.21140946
11KDR2.20192896
12TYK22.15954261
13TESK22.07702624
14GRK61.99724789
15JAK11.95823580
16* LCK1.89593634
17NLK1.80105883
18FGFR31.62785871
19CSK1.61911601
20EEF2K1.61814442
21TEC1.60704547
22PRPF4B1.53567943
23SYK1.52812856
24TAOK31.48252120
25TBK11.47199792
26MST41.46431028
27MAP3K101.40775095
28HCK1.33817338
29IKBKB1.31470040
30BTK1.29931364
31BLK1.24043805
32CHUK1.19650765
33PRKCQ1.17060586
34PRKCH1.14556555
35SIK31.12689533
36TLK11.06606514
37NME21.06309036
38CDK121.04435245
39RPS6KA41.01951225
40MATK1.00552241
41GRK70.98086845
42SIK20.95914939
43PIM10.95443420
44MAP3K120.89755458
45CAMKK20.89388199
46MARK30.88804837
47CLK10.87892592
48TSSK60.86174970
49LYN0.84008655
50MAP3K70.81541428
51MAP3K10.79629380
52EPHA30.79250019
53IRAK40.78982568
54TNK20.77859118
55NME10.76823387
56TAOK10.75447476
57LRRK20.75352911
58MAP3K130.74780952
59JAK20.73144561
60MAP3K110.73113803
61EPHB10.71425140
62SMG10.71094634
63TRIB30.70662530
64MAPK120.69134077
65KIT0.67808646
66TGFBR20.66625352
67FES0.65574061
68BMPR20.65566301
69BUB10.61145416
70PDGFRB0.59789497
71TESK10.59742175
72BCKDK0.59261705
73MAPKAPK30.55440256
74CAMKK10.54399172
75SRPK10.52795881
76BRD40.52639228
77CDK40.52436964
78INSR0.52171733
79PIM20.52007783
80TYRO30.51235708
81MAP2K30.50936355
82SCYL20.49884509
83ALK0.49538349
84MAP3K30.48930082
85SIK10.48515217
86MARK20.46965882
87CSF1R0.46771078
88PKN20.46593721
89RPS6KA50.45545906
90DAPK20.45522868
91FYN0.45135219
92PASK0.44355712
93ADRBK20.40590943
94IRAK10.39189386
95MELK0.38044010
96IGF1R0.36792544
97PDK10.36686019
98HIPK20.35862019
99CDK90.33051997
100CDC70.32709424
101MAP2K60.31401816
102EIF2AK10.30144117
103MAP3K80.28639459
104RAF10.28552494
105PRKD20.27744250
106MAPK70.27400481
107DMPK0.26602865
108TAOK20.26045124
109RPS6KA10.24905018
110PRKCD0.24672450
111EIF2AK30.24084206
112MAPK30.23952408
113WNK40.23886595
114STK240.23077898
115MAPKAPK20.22635180
116ERN10.22597172
117MAPK110.22550273
118PIK3CG0.21355226
119ABL10.21270698
120IRAK30.20005800
121ROCK20.19287366
122ATR0.18713320
123PIK3CA0.17493762
124STK40.17441244
125TGFBR10.17403058
126NEK20.16378035
127EGFR0.14778264

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary immunodeficiency_Homo sapiens_hsa053405.75224478
2T cell receptor signaling pathway_Homo sapiens_hsa046604.06202956
3Graft-versus-host disease_Homo sapiens_hsa053323.56927637
4Allograft rejection_Homo sapiens_hsa053303.47182574
5Inflammatory bowel disease (IBD)_Homo sapiens_hsa053213.44507788
6Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046503.16700526
7Intestinal immune network for IgA production_Homo sapiens_hsa046722.94288350
8Measles_Homo sapiens_hsa051622.82203404
9NF-kappa B signaling pathway_Homo sapiens_hsa040642.70808378
10Autoimmune thyroid disease_Homo sapiens_hsa053202.56942512
11Antigen processing and presentation_Homo sapiens_hsa046122.50935846
12Hematopoietic cell lineage_Homo sapiens_hsa046402.18187283
13Viral myocarditis_Homo sapiens_hsa054161.93803355
14Leishmaniasis_Homo sapiens_hsa051401.91206986
15Jak-STAT signaling pathway_Homo sapiens_hsa046301.84272809
16Osteoclast differentiation_Homo sapiens_hsa043801.79699820
17Type I diabetes mellitus_Homo sapiens_hsa049401.74089009
18Asthma_Homo sapiens_hsa053101.67591477
19B cell receptor signaling pathway_Homo sapiens_hsa046621.60853126
20RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.50577322
21Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.47134110
22Herpes simplex infection_Homo sapiens_hsa051681.46753880
23Toxoplasmosis_Homo sapiens_hsa051451.30032400
24Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.29365980
25Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.27824362
26Chemokine signaling pathway_Homo sapiens_hsa040621.22578166
27Acute myeloid leukemia_Homo sapiens_hsa052211.22439200
28Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.21592430
29HTLV-I infection_Homo sapiens_hsa051661.19387195
30Hepatitis B_Homo sapiens_hsa051611.16567764
31NOD-like receptor signaling pathway_Homo sapiens_hsa046211.15411613
32Shigellosis_Homo sapiens_hsa051311.15056293
33Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.10380021
34Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.10081987
35Leukocyte transendothelial migration_Homo sapiens_hsa046701.06325137
36TNF signaling pathway_Homo sapiens_hsa046681.05527065
37Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.02934437
38Apoptosis_Homo sapiens_hsa042101.01689090
39Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.00649600
40Influenza A_Homo sapiens_hsa051640.99859685
41Legionellosis_Homo sapiens_hsa051340.94570049
42Epstein-Barr virus infection_Homo sapiens_hsa051690.94268148
43Spliceosome_Homo sapiens_hsa030400.92698293
44Toll-like receptor signaling pathway_Homo sapiens_hsa046200.90894253
45Prolactin signaling pathway_Homo sapiens_hsa049170.85261584
46Pancreatic cancer_Homo sapiens_hsa052120.84835913
47Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.84778761
48Malaria_Homo sapiens_hsa051440.83274725
49Chronic myeloid leukemia_Homo sapiens_hsa052200.82398143
50Viral carcinogenesis_Homo sapiens_hsa052030.80245778
51Colorectal cancer_Homo sapiens_hsa052100.79110643
52Ribosome_Homo sapiens_hsa030100.77313232
53SNARE interactions in vesicular transport_Homo sapiens_hsa041300.76838290
54African trypanosomiasis_Homo sapiens_hsa051430.74646055
55Non-homologous end-joining_Homo sapiens_hsa034500.69321419
56Staphylococcus aureus infection_Homo sapiens_hsa051500.68466575
57AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.68171342
58Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.66853971
59alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.66784052
60Salmonella infection_Homo sapiens_hsa051320.65547386
61Hepatitis C_Homo sapiens_hsa051600.65140244
62Transcriptional misregulation in cancer_Homo sapiens_hsa052020.64601487
63RNA degradation_Homo sapiens_hsa030180.63977278
64Tuberculosis_Homo sapiens_hsa051520.62040103
65Linoleic acid metabolism_Homo sapiens_hsa005910.61782207
66DNA replication_Homo sapiens_hsa030300.60176061
67Platelet activation_Homo sapiens_hsa046110.58163421
68Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.55706393
69p53 signaling pathway_Homo sapiens_hsa041150.54412705
70Base excision repair_Homo sapiens_hsa034100.51804176
71Pertussis_Homo sapiens_hsa051330.51204481
72Neurotrophin signaling pathway_Homo sapiens_hsa047220.47198606
73Prion diseases_Homo sapiens_hsa050200.45004112
74Small cell lung cancer_Homo sapiens_hsa052220.44306851
75Rheumatoid arthritis_Homo sapiens_hsa053230.43889170
76mRNA surveillance pathway_Homo sapiens_hsa030150.43543003
77Systemic lupus erythematosus_Homo sapiens_hsa053220.42029999
78RNA transport_Homo sapiens_hsa030130.40855028
79MAPK signaling pathway_Homo sapiens_hsa040100.40318498
80Mismatch repair_Homo sapiens_hsa034300.39774719
81Regulation of actin cytoskeleton_Homo sapiens_hsa048100.39443686
82Endocytosis_Homo sapiens_hsa041440.39433720
83Notch signaling pathway_Homo sapiens_hsa043300.39320093
84Proteasome_Homo sapiens_hsa030500.38980855
85Thyroid cancer_Homo sapiens_hsa052160.35951954
86Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.32132111
87Caffeine metabolism_Homo sapiens_hsa002320.30220880
88Phosphatidylinositol signaling system_Homo sapiens_hsa040700.29937737
89Non-small cell lung cancer_Homo sapiens_hsa052230.29111956
90FoxO signaling pathway_Homo sapiens_hsa040680.28652714
91Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.28226170
92Adipocytokine signaling pathway_Homo sapiens_hsa049200.27248313
93Sphingolipid signaling pathway_Homo sapiens_hsa040710.26689015
94Rap1 signaling pathway_Homo sapiens_hsa040150.26022547
95Regulation of autophagy_Homo sapiens_hsa041400.24997510
96Nucleotide excision repair_Homo sapiens_hsa034200.24885368
97* VEGF signaling pathway_Homo sapiens_hsa043700.24373204
98Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.23843858
99Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.23701122
100Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.23550716
101Pyrimidine metabolism_Homo sapiens_hsa002400.23050440
102Ether lipid metabolism_Homo sapiens_hsa005650.22847636
103Prostate cancer_Homo sapiens_hsa052150.22083357
104Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.21810933
105Insulin resistance_Homo sapiens_hsa049310.21405741
106HIF-1 signaling pathway_Homo sapiens_hsa040660.21333507
107Endometrial cancer_Homo sapiens_hsa052130.21264905
108mTOR signaling pathway_Homo sapiens_hsa041500.20938644
109Homologous recombination_Homo sapiens_hsa034400.20506585
110Adherens junction_Homo sapiens_hsa045200.19613490
111Thyroid hormone signaling pathway_Homo sapiens_hsa049190.18453282
112One carbon pool by folate_Homo sapiens_hsa006700.17472720
113Renal cell carcinoma_Homo sapiens_hsa052110.17306787
114Inositol phosphate metabolism_Homo sapiens_hsa005620.17248527
115RNA polymerase_Homo sapiens_hsa030200.16661401
116MicroRNAs in cancer_Homo sapiens_hsa052060.15809105
117Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.14052301
118Glycerophospholipid metabolism_Homo sapiens_hsa005640.11206004
119Phagosome_Homo sapiens_hsa041450.09819964
120Ras signaling pathway_Homo sapiens_hsa040140.07149519

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