SLAMF6

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 type I transmembrane protein, belonging to the CD2 subfamily of the immunoglobulin superfamily. This encoded protein is expressed on Natural killer (NK), T, and B lymphocytes. It undergoes tyrosine phosphorylation and associates with the Src homology 2 domain-containing protein (SH2D1A) as well as with SH2 domain-containing phosphatases (SHPs). It functions as a coreceptor in the process of NK cell activation. It can also mediate inhibitory signals in NK cells from X-linked lymphoproliferative patients. Alternative splicing results in multiple transcript variants encoding distinct isoforms. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1positive regulation of gamma-delta T cell activation (GO:0046645)8.37780424
2negative T cell selection (GO:0043383)7.50848789
3negative thymic T cell selection (GO:0045060)7.33073854
4positive thymic T cell selection (GO:0045059)6.80221959
5positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)6.61930768
6regulation of gamma-delta T cell differentiation (GO:0045586)6.55726945
7positive T cell selection (GO:0043368)6.26796452
8regulation of gamma-delta T cell activation (GO:0046643)6.02023542
9thymic T cell selection (GO:0045061)5.99704257
10regulation of isotype switching to IgG isotypes (GO:0048302)5.96259433
11T cell selection (GO:0045058)5.88693469
12antigen processing and presentation of endogenous peptide antigen (GO:0002483)5.79385306
13antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)5.79385306
14antigen processing and presentation of endogenous antigen (GO:0019883)5.59274060
15negative regulation of leukocyte mediated cytotoxicity (GO:0001911)5.58139490
16negative regulation of cell killing (GO:0031342)5.58139490
17leukocyte aggregation (GO:0070486)5.50454156
18response to interleukin-15 (GO:0070672)5.28041131
19cellular response to interleukin-15 (GO:0071350)5.26904468
20T cell migration (GO:0072678)5.26253841
21positive regulation of interleukin-2 biosynthetic process (GO:0045086)5.21241953
22T cell receptor signaling pathway (GO:0050852)5.02968548
23T cell costimulation (GO:0031295)5.02379555
24regulation of B cell receptor signaling pathway (GO:0050855)4.99017396
25lymphocyte costimulation (GO:0031294)4.96432985
26B cell receptor signaling pathway (GO:0050853)4.90378455
27antigen receptor-mediated signaling pathway (GO:0050851)4.85158656
28regulation of T cell tolerance induction (GO:0002664)4.85150357
29regulation of alpha-beta T cell proliferation (GO:0046640)4.62425418
30tolerance induction (GO:0002507)4.37054856
31regulation of antigen receptor-mediated signaling pathway (GO:0050854)4.36806338
32interferon-gamma production (GO:0032609)4.35954440
33positive regulation of alpha-beta T cell proliferation (GO:0046641)4.26973811
34V(D)J recombination (GO:0033151)4.22197340
35regulation of T cell receptor signaling pathway (GO:0050856)4.20362625
36antigen processing and presentation via MHC class Ib (GO:0002475)4.17980256
37immunoglobulin mediated immune response (GO:0016064)4.10825467
38regulation of natural killer cell mediated cytotoxicity (GO:0042269)4.10457607
39regulation of natural killer cell mediated immunity (GO:0002715)4.10457607
40regulation of B cell differentiation (GO:0045577)4.09465531
41regulation of T cell mediated cytotoxicity (GO:0001914)4.04456689
42activated T cell proliferation (GO:0050798)4.01461063
43regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)3.95744053
44regulation of antigen processing and presentation of peptide antigen (GO:0002583)3.95358213
45regulation of regulatory T cell differentiation (GO:0045589)3.92082212
46antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.91958984
47regulation of interleukin-2 biosynthetic process (GO:0045076)3.91059997
48positive regulation of T cell mediated cytotoxicity (GO:0001916)3.90928780
49positive regulation of interleukin-2 production (GO:0032743)3.90498960
50positive regulation of tolerance induction (GO:0002645)3.87730755
51type I interferon signaling pathway (GO:0060337)3.84187183
52cellular response to type I interferon (GO:0071357)3.84187183
53positive regulation of B cell differentiation (GO:0045579)3.83063283
54positive regulation by symbiont of host defense response (GO:0052509)3.81529837
55modulation by symbiont of host defense response (GO:0052031)3.81529837
56modulation by organism of immune response of other organism involved in symbiotic interaction (GO:003.81529837
57modulation by organism of defense response of other organism involved in symbiotic interaction (GO:03.81529837
58positive regulation by organism of defense response of other organism involved in symbiotic interact3.81529837
59modulation by symbiont of host immune response (GO:0052553)3.81529837
60regulation of isotype switching (GO:0045191)3.78926002
61mast cell activation (GO:0045576)3.78913635
62negative regulation of leukocyte mediated immunity (GO:0002704)3.78579274
63T cell homeostasis (GO:0043029)3.78372777
64regulation of leukocyte mediated cytotoxicity (GO:0001910)3.69193668
65NIK/NF-kappaB signaling (GO:0038061)3.67660429
66B cell proliferation (GO:0042100)3.66251953
67positive regulation of isotype switching (GO:0045830)3.61281398
68immune response-activating cell surface receptor signaling pathway (GO:0002429)3.61129072
69positive regulation of type I interferon-mediated signaling pathway (GO:0060340)3.55321232
70regulation of tolerance induction (GO:0002643)3.55099667
71positive regulation of leukocyte mediated cytotoxicity (GO:0001912)3.54050398
72regulation of cell killing (GO:0031341)3.53568092
73T cell differentiation (GO:0030217)3.51995133
74detection of bacterium (GO:0016045)3.46967302
75B cell mediated immunity (GO:0019724)3.46588616
76positive regulation of cell killing (GO:0031343)3.41994677
77detection of other organism (GO:0098543)3.39083961
78natural killer cell activation (GO:0030101)3.36594578
79cytidine deamination (GO:0009972)3.36185241
80cytidine metabolic process (GO:0046087)3.36185241
81cytidine catabolic process (GO:0006216)3.36185241
82positive regulation of granulocyte differentiation (GO:0030854)3.36096032
83lymphocyte homeostasis (GO:0002260)3.34678732
84interferon-gamma-mediated signaling pathway (GO:0060333)3.33066791
85negative regulation of antigen receptor-mediated signaling pathway (GO:0050858)3.32026506
86negative regulation of B cell mediated immunity (GO:0002713)3.31281714
87negative regulation of immunoglobulin mediated immune response (GO:0002890)3.31281714
88regulation of immunoglobulin production (GO:0002637)3.30026019
89leukocyte cell-cell adhesion (GO:0007159)3.29398923
90negative regulation of lymphocyte mediated immunity (GO:0002707)3.28749003
91alpha-beta T cell activation (GO:0046631)3.27119387
92positive regulation of DNA recombination (GO:0045911)3.26824249
93regulation of immunoglobulin mediated immune response (GO:0002889)3.25782670
94regulation of B cell mediated immunity (GO:0002712)3.24402610
95negative regulation of T cell mediated immunity (GO:0002710)3.24242191
96negative regulation of interleukin-12 production (GO:0032695)3.23737285
97pyrimidine ribonucleoside catabolic process (GO:0046133)3.23522755
98regulation of antigen processing and presentation (GO:0002577)3.23431309
99regulation of interferon-beta biosynthetic process (GO:0045357)3.21561645
100sequestering of actin monomers (GO:0042989)3.18254328
101T cell activation (GO:0042110)3.17904179
102defense response to protozoan (GO:0042832)3.17601953
103alpha-beta T cell differentiation (GO:0046632)3.16236826
104macrophage activation involved in immune response (GO:0002281)3.15334874
105positive regulation of immunoglobulin production (GO:0002639)3.14909714
106neutrophil activation involved in immune response (GO:0002283)3.14725128
107negative regulation of B cell proliferation (GO:0030889)3.14580418
108regulation of defense response to virus by virus (GO:0050690)3.13765242
109regulation of T cell mediated immunity (GO:0002709)3.12731033
110negative regulation of adaptive immune response based on somatic recombination of immune receptors b3.12497482
111negative regulation of alpha-beta T cell activation (GO:0046636)3.12358816
112respiratory burst (GO:0045730)3.09632016
113Arp2/3 complex-mediated actin nucleation (GO:0034314)3.09068188
114positive regulation of T cell mediated immunity (GO:0002711)3.08669785
115lymphocyte migration (GO:0072676)3.08013153
116regulation of interleukin-12 biosynthetic process (GO:0045075)3.07348860
117regulation of alpha-beta T cell activation (GO:0046634)3.05726039
118positive regulation of antigen processing and presentation (GO:0002579)3.05110694
119regulation of response to interferon-gamma (GO:0060330)3.04027981
120T cell proliferation (GO:0042098)3.03229384
121positive regulation of humoral immune response (GO:0002922)3.02338505
122negative regulation of T cell receptor signaling pathway (GO:0050860)3.01650361
123cellular response to zinc ion (GO:0071294)3.00213064
124cellular extravasation (GO:0045123)3.00111261
125regulation of type I interferon-mediated signaling pathway (GO:0060338)2.99826911
126regulation of interferon-gamma-mediated signaling pathway (GO:0060334)2.98922125
127positive regulation of immunoglobulin mediated immune response (GO:0002891)2.98226852
128positive regulation of B cell mediated immunity (GO:0002714)2.98226852
129B cell homeostasis (GO:0001782)2.97915581
130negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)2.96692984
131positive regulation of T cell activation (GO:0050870)2.93678815
132lymphocyte proliferation (GO:0046651)2.93655979
133negative regulation of phagocytosis (GO:0050765)2.93317343
134positive regulation of B cell activation (GO:0050871)2.92178978
135positive regulation of B cell proliferation (GO:0030890)2.91381645
136regulation of B cell proliferation (GO:0030888)2.90915420
137natural killer cell differentiation (GO:0001779)2.90727011
138regulation of interleukin-2 production (GO:0032663)2.90019718
139negative regulation of type 2 immune response (GO:0002829)2.89917109
140mononuclear cell proliferation (GO:0032943)2.89445740
141response to type I interferon (GO:0034340)2.88743653
142heterotypic cell-cell adhesion (GO:0034113)2.87588002
143regulation of interleukin-4 production (GO:0032673)2.84996782
144regulation of B cell activation (GO:0050864)2.84265446
145positive regulation of natural killer cell mediated immunity (GO:0002717)2.83540651
146positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)2.83540651

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXP3_17237761_ChIP-ChIP_TREG_Mouse7.64651493
2STAT6_20620947_ChIP-Seq_CD4_POS_T_Human5.38557489
3IRF8_22096565_ChIP-ChIP_GC-B_Human5.00486163
4E2F7_22180533_ChIP-Seq_HELA_Human4.93909748
5IRF8_22096565_ChIP-ChIP_GC-B_Mouse4.45686059
6MYC_22102868_ChIP-Seq_BL_Human3.79635531
7* RUNX_20019798_ChIP-Seq_JUKART_Human3.70452373
8* SPI1_22096565_ChIP-ChIP_GC-B_Mouse3.40156035
9* FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse3.36523652
10STAT3_20064451_ChIP-Seq_CD4+T_Mouse3.28625867
11IRF1_21803131_ChIP-Seq_MONOCYTES_Human3.25557501
12* MYB_26560356_Chip-Seq_TH2_Human3.24335501
13MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.13715149
14IRF8_21731497_ChIP-ChIP_J774_Mouse3.06160083
15STAT4_19710469_ChIP-ChIP_TH1__Mouse3.04771241
16* MAF_26560356_Chip-Seq_TH1_Human2.80637607
17UTX_26944678_Chip-Seq_JUKART_Human2.73306464
18* MYB_26560356_Chip-Seq_TH1_Human2.67278779
19VDR_21846776_ChIP-Seq_THP-1_Human2.49244425
20* SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.38519148
21FOXM1_23109430_ChIP-Seq_U2OS_Human2.19156808
22* E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human2.17174688
23* IRF8_27001747_Chip-Seq_BMDM_Mouse2.07540174
24RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.02526068
25EGR1_19374776_ChIP-ChIP_THP-1_Human2.01578581
26* SPI1_23547873_ChIP-Seq_NB4_Human1.99346071
27* SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.97675731
28GATA3_27048872_Chip-Seq_THYMUS_Human1.92887522
29NOTCH1_21737748_ChIP-Seq_TLL_Human1.92180617
30* NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.91283201
31* KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.89808001
32* MAF_26560356_Chip-Seq_TH2_Human1.89619611
33FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.87989539
34ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.82429589
35ELF1_17652178_ChIP-ChIP_JURKAT_Human1.81284039
36RUNX1_22412390_ChIP-Seq_EML_Mouse1.80449714
37SCL_19346495_ChIP-Seq_HPC-7_Human1.80214062
38E2F4_17652178_ChIP-ChIP_JURKAT_Human1.78897658
39CIITA_25753668_ChIP-Seq_RAJI_Human1.75732264
40VDR_24763502_ChIP-Seq_THP-1_Human1.71034643
41TCF7_22412390_ChIP-Seq_EML_Mouse1.68669900
42NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.65861409
43VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.64118822
44RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.59986571
45MYB_21317192_ChIP-Seq_ERMYB_Mouse1.56707243
46MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.56285654
47CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.52563456
48TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.48614918
49SPI1_23127762_ChIP-Seq_K562_Human1.47520814
50BRD4_27068464_Chip-Seq_AML-cells_Mouse1.45725059
51SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.41928391
52VDR_23849224_ChIP-Seq_CD4+_Human1.40190069
53FOXP3_21729870_ChIP-Seq_TREG_Human1.36139270
54KDM2B_26808549_Chip-Seq_DND41_Human1.35196708
55* GATA2_22383799_ChIP-Seq_G1ME_Mouse1.33975562
56KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.29343622
57BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.27655989
58* PU_27001747_Chip-Seq_BMDM_Mouse1.22369397
59EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.20854156
60VDR_24787735_ChIP-Seq_THP-1_Human1.20109594
61GATA3_26560356_Chip-Seq_TH2_Human1.19748143
62HOXB4_20404135_ChIP-ChIP_EML_Mouse1.19392763
63VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.15675546
64LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.13462288
65GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.13409792
66FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.13258690
67FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.13069096
68RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.12124992
69KDM2B_26808549_Chip-Seq_SUP-B15_Human1.11438120
70BP1_19119308_ChIP-ChIP_Hs578T_Human1.11174034
71ERG_20887958_ChIP-Seq_HPC-7_Mouse1.09544847
72BCL6_27268052_Chip-Seq_Bcells_Human1.09127352
73CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.07580560
74PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.05524839
75SMAD_19615063_ChIP-ChIP_OVARY_Human1.05188115
76PU.1_20513432_ChIP-Seq_Bcells_Mouse1.02499619
77CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.01401135
78TP63_19390658_ChIP-ChIP_HaCaT_Human1.01254838
79TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse0.97157773
80SMRT_27268052_Chip-Seq_Bcells_Human0.95897173
81GATA3_26560356_Chip-Seq_TH1_Human0.95699780
82NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.94028084
83GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.93521568
84GATA1_22383799_ChIP-Seq_G1ME_Mouse0.92057017
85BCOR_27268052_Chip-Seq_Bcells_Human0.89803871
86Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.88191309
87P300_27268052_Chip-Seq_Bcells_Human0.87696544
88NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.87406685
89LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.87261071
90RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human0.87197261
91ELK3_25401928_ChIP-Seq_HUVEC_Human0.86040586
92PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.85727563
93PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.85348983
94SOX11_23321250_ChIP-ChIP_Z138-A519-JVM2_Human0.85084225
95FLI1_27457419_Chip-Seq_LIVER_Mouse0.85021846
96ELK1_19687146_ChIP-ChIP_HELA_Human0.85011106
97CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.84956555
98KDM2B_26808549_Chip-Seq_JURKAT_Human0.82243994
99TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.80931707
100E2F1_21310950_ChIP-Seq_MCF-7_Human0.80422425
101FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.80311156
102TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human0.80256702
103EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.80176810
104FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse0.79945421
105GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.79735605
106CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse0.79151227
107DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.78959132
108SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.78544668
109GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.78076476
110KDM5A_27292631_Chip-Seq_BREAST_Human0.77498839
111SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.76121435
112ELF1_20517297_ChIP-Seq_JURKAT_Human0.75244048
113SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.73287887
114RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.73255016
115RBPJ_21746931_ChIP-Seq_IB4-LCL_Human0.70921642
116GATA1_19941827_ChIP-Seq_MEL_Mouse0.69451967
117IKZF1_21737484_ChIP-ChIP_HCT116_Human0.64943097
118PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.64858620
119EST1_17652178_ChIP-ChIP_JURKAT_Human0.62949914
120GATA1_22025678_ChIP-Seq_K562_Human0.61656969

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003763_abnormal_thymus_physiology5.27548373
2MP0005671_abnormal_response_to4.92833827
3MP0001835_abnormal_antigen_presentation4.17126870
4MP0001800_abnormal_humoral_immune3.87477868
5MP0000685_abnormal_immune_system3.71234186
6MP0005387_immune_system_phenotype3.51516033
7MP0001790_abnormal_immune_system3.51516033
8MP0002166_altered_tumor_susceptibility3.25551540
9MP0002398_abnormal_bone_marrow3.13997006
10MP0005000_abnormal_immune_tolerance3.11442405
11MP0002452_abnormal_antigen_presenting3.10801671
12* MP0002420_abnormal_adaptive_immunity3.09972780
13* MP0001819_abnormal_immune_cell3.03615186
14* MP0002723_abnormal_immune_serum3.02191104
15MP0000716_abnormal_immune_system2.76162297
16MP0000703_abnormal_thymus_morphology2.62839901
17MP0002006_tumorigenesis2.57492919
18MP0000689_abnormal_spleen_morphology2.57040108
19MP0009785_altered_susceptibility_to2.50211908
20MP0002722_abnormal_immune_system2.49689789
21MP0002405_respiratory_system_inflammati2.39346329
22MP0009333_abnormal_splenocyte_physiolog2.38745213
23* MP0005025_abnormal_response_to2.37430952
24MP0001873_stomach_inflammation2.34179199
25MP0003436_decreased_susceptibility_to2.30842527
26MP0002429_abnormal_blood_cell2.23669475
27MP0002396_abnormal_hematopoietic_system2.22233238
28MP0002933_joint_inflammation2.16398090
29MP0006082_CNS_inflammation2.07895157
30MP0003300_gastrointestinal_ulcer2.04924220
31MP0002148_abnormal_hypersensitivity_rea2.04166319
32MP0010155_abnormal_intestine_physiology2.00772652
33MP0004947_skin_inflammation1.98530226
34MP0003866_abnormal_defecation1.87962234
35* MP0002419_abnormal_innate_immunity1.85125993
36MP0003303_peritoneal_inflammation1.79198397
37MP0003724_increased_susceptibility_to1.78437290
38MP0001845_abnormal_inflammatory_respons1.68489487
39MP0003183_abnormal_peptide_metabolism1.52734354
40MP0004381_abnormal_hair_follicle1.50841065
41MP0004808_abnormal_hematopoietic_stem1.47594051
42MP0001853_heart_inflammation1.45619183
43MP0001986_abnormal_taste_sensitivity1.42135376
44MP0005464_abnormal_platelet_physiology1.39742704
45MP0002132_abnormal_respiratory_system1.32423702
46MP0004510_myositis1.30615874
47MP0005075_abnormal_melanosome_morpholog1.25983013
48MP0008057_abnormal_DNA_replication1.25379796
49MP0010094_abnormal_chromosome_stability1.23715063
50MP0002019_abnormal_tumor_incidence1.19836203
51MP0000490_abnormal_crypts_of1.16592926
52MP0005310_abnormal_salivary_gland1.14242238
53MP0002277_abnormal_respiratory_mucosa1.13434269
54MP0000465_gastrointestinal_hemorrhage1.12050903
55MP0003172_abnormal_lysosome_physiology1.09870608
56* MP0008469_abnormal_protein_level1.07530485
57MP0002009_preneoplasia1.04337026
58MP0000858_altered_metastatic_potential1.03568807
59MP0002163_abnormal_gland_morphology1.01448322
60MP0003787_abnormal_imprinting0.97986714
61MP0003077_abnormal_cell_cycle0.97412221
62MP0003448_altered_tumor_morphology0.93432136
63MP0001533_abnormal_skeleton_physiology0.91849652
64MP0008961_abnormal_basal_metabolism0.89404621
65MP0005397_hematopoietic_system_phenotyp0.83553142
66MP0001545_abnormal_hematopoietic_system0.83553142
67MP0003693_abnormal_embryo_hatching0.82774073
68MP0005645_abnormal_hypothalamus_physiol0.81719741
69MP0009764_decreased_sensitivity_to0.81063650
70MP0008260_abnormal_autophagy0.80246957
71MP0003646_muscle_fatigue0.79513243
72MP0010352_gastrointestinal_tract_polyps0.79374917
73MP0009278_abnormal_bone_marrow0.77167426
74MP0004883_abnormal_blood_vessel0.74906589
75MP0003252_abnormal_bile_duct0.74666790
76MP0008058_abnormal_DNA_repair0.70715482
77MP0008007_abnormal_cellular_replicative0.70213076
78MP0008877_abnormal_DNA_methylation0.70078691
79MP0001243_abnormal_dermal_layer0.67255231
80MP0003045_fibrosis0.66365004
81MP0003111_abnormal_nucleus_morphology0.65957208
82MP0001348_abnormal_lacrimal_gland0.65619197
83MP0003191_abnormal_cellular_cholesterol0.64555252
84MP0000015_abnormal_ear_pigmentation0.64136710
85MP0005174_abnormal_tail_pigmentation0.61086280
86MP0002998_abnormal_bone_remodeling0.60354947
87MP0009763_increased_sensitivity_to0.59373018
88MP0002136_abnormal_kidney_physiology0.57203692
89MP0005023_abnormal_wound_healing0.57202490
90MP0000477_abnormal_intestine_morphology0.56569308
91MP0000313_abnormal_cell_death0.55801779
92MP0009765_abnormal_xenobiotic_induced0.55600863
93MP0005377_hearing/vestibular/ear_phenot0.55459262
94MP0003878_abnormal_ear_physiology0.55459262
95MP0001851_eye_inflammation0.54151721
96MP0002095_abnormal_skin_pigmentation0.53244748
97MP0004957_abnormal_blastocyst_morpholog0.52600687
98MP0000249_abnormal_blood_vessel0.52016803
99MP0003828_pulmonary_edema0.51839811
100MP0002138_abnormal_hepatobiliary_system0.51524450
101MP0001663_abnormal_digestive_system0.50503766
102MP0000372_irregular_coat_pigmentation0.50495417
103MP0005379_endocrine/exocrine_gland_phen0.50395511
104MP0003075_altered_response_to0.49398209
105MP0004130_abnormal_muscle_cell0.48984708
106MP0002693_abnormal_pancreas_physiology0.48652540
107MP0003656_abnormal_erythrocyte_physiolo0.48465252
108MP0000350_abnormal_cell_proliferation0.47970056
109MP0003690_abnormal_glial_cell0.47051735
110MP0003795_abnormal_bone_structure0.45792942
111MP0000604_amyloidosis0.45700510
112MP0002083_premature_death0.45566838
113MP0008874_decreased_physiological_sensi0.43530970
114MP0005390_skeleton_phenotype0.43445894
115MP0001919_abnormal_reproductive_system0.42907267
116MP0006054_spinal_hemorrhage0.42323104
117MP0003453_abnormal_keratinocyte_physiol0.41660965
118MP0001191_abnormal_skin_condition0.41037342
119MP0003091_abnormal_cell_migration0.38969967
120MP0000569_abnormal_digit_pigmentation0.38712691
121MP0005451_abnormal_body_composition0.37668901
122MP0002928_abnormal_bile_duct0.37055841
123MP0000609_abnormal_liver_physiology0.36929671
124MP0005166_decreased_susceptibility_to0.33588319
125MP0008873_increased_physiological_sensi0.32375043
126MP0002970_abnormal_white_adipose0.31911519

Predicted human phenotypes

RankGene SetZ-score
1T lymphocytopenia (HP:0005403)6.72736367
2Abnormality of T cell number (HP:0011839)6.51375494
3Recurrent bronchitis (HP:0002837)6.16010800
4Severe combined immunodeficiency (HP:0004430)6.09366690
5Agammaglobulinemia (HP:0004432)5.86189414
6Abnormality of B cell number (HP:0010975)5.73083857
7B lymphocytopenia (HP:0010976)5.73083857
8Combined immunodeficiency (HP:0005387)5.66687063
9Panhypogammaglobulinemia (HP:0003139)5.65378164
10Elevated erythrocyte sedimentation rate (HP:0003565)5.11519090
11IgM deficiency (HP:0002850)4.99015236
12Abnormality of T cells (HP:0002843)4.95336061
13Thyroiditis (HP:0100646)4.90851228
14IgG deficiency (HP:0004315)4.86839440
15Recurrent viral infections (HP:0004429)4.77569276
16Recurrent fungal infections (HP:0002841)4.68008217
17Abnormality of the fingertips (HP:0001211)4.29744689
18Hypoplasia of the thymus (HP:0000778)4.22000222
19Chronic otitis media (HP:0000389)4.20200525
20Recurrent cutaneous fungal infections (HP:0011370)4.20186937
21Chronic mucocutaneous candidiasis (HP:0002728)4.20186937
22Recurrent sinusitis (HP:0011108)4.19863326
23Orchitis (HP:0100796)4.15594894
24Abnormality of macrophages (HP:0004311)4.14448543
25Lymphopenia (HP:0001888)4.08625860
26Meningitis (HP:0001287)3.96448176
27Abnormality of cells of the lymphoid lineage (HP:0012140)3.95321531
28Verrucae (HP:0200043)3.95188839
29Papilloma (HP:0012740)3.95188839
30Eczematoid dermatitis (HP:0000976)3.89344466
31Eosinophilia (HP:0001880)3.82363860
32Abnormality of eosinophils (HP:0001879)3.81029164
33Gastrointestinal stroma tumor (HP:0100723)3.69999449
34Abnormal delayed hypersensitivity skin test (HP:0002963)3.66783970
35Stomatitis (HP:0010280)3.53840015
36Bronchitis (HP:0012387)3.47834697
37Granulocytopenia (HP:0001913)3.40511110
38Chronic sinusitis (HP:0011109)3.40410293
39Cellulitis (HP:0100658)3.37759337
40Chronic diarrhea (HP:0002028)3.31965715
41Abnormality of T cell physiology (HP:0011840)3.29313623
42Pustule (HP:0200039)3.27531722
43Recurrent gram-negative bacterial infections (HP:0005420)3.27377765
44Inflammation of the large intestine (HP:0002037)3.18185444
45IgA deficiency (HP:0002720)3.16202791
46Keratoconjunctivitis sicca (HP:0001097)3.16088658
47Leukocytosis (HP:0001974)3.16035382
48Vasculitis (HP:0002633)3.13704872
49Nasal polyposis (HP:0100582)3.09384693
50Autoimmune hemolytic anemia (HP:0001890)3.09111984
51Lymphoma (HP:0002665)3.07784437
52Keratoconjunctivitis (HP:0001096)3.06494126
53Increased IgM level (HP:0003496)3.06105422
54Gastrointestinal inflammation (HP:0004386)3.04122170
55Recurrent abscess formation (HP:0002722)3.02957307
56Autoimmune thrombocytopenia (HP:0001973)3.01452324
57Recurrent otitis media (HP:0000403)2.99408853
58Colitis (HP:0002583)2.96006188
59Emphysema (HP:0002097)2.71810331
60Urticaria (HP:0001025)2.71520522
61Mediastinal lymphadenopathy (HP:0100721)2.68475508
62Hypochromic anemia (HP:0001931)2.67054567
63Recurrent skin infections (HP:0001581)2.65488482
64Abnormality of the prostate (HP:0008775)2.59107307
65Pulmonary embolism (HP:0002204)2.59048876
66Myositis (HP:0100614)2.55401682
67Hypergammaglobulinemia (HP:0010702)2.51369093
68Abnormality of the nasal mucosa (HP:0000433)2.49718262
69Sepsis (HP:0100806)2.46291989
70Recurrent pneumonia (HP:0006532)2.44526771
71Basal cell carcinoma (HP:0002671)2.43761987
72Chronic obstructive pulmonary disease (HP:0006510)2.42193319
73Obstructive lung disease (HP:0006536)2.42193319
74Joint swelling (HP:0001386)2.36457772
75Anorexia (HP:0002039)2.34917025
76Prolonged bleeding time (HP:0003010)2.34728190
77Abnormality of the pleura (HP:0002103)2.33400326
78Gangrene (HP:0100758)2.33297901
79Arterial thrombosis (HP:0004420)2.31445697
80Encephalitis (HP:0002383)2.30168171
81Recurrent bacterial skin infections (HP:0005406)2.28771340
82Skin rash (HP:0000988)2.27071342
83Recurrent lower respiratory tract infections (HP:0002783)2.25276368
84Spontaneous hematomas (HP:0007420)2.21596941
85Acute hepatic failure (HP:0006554)2.21322079
86Osteomyelitis (HP:0002754)2.20293784
87Hypochromic microcytic anemia (HP:0004840)2.20292484
88Restrictive lung disease (HP:0002091)2.14686066
89Epistaxis (HP:0000421)2.13749916
90Stomach cancer (HP:0012126)2.13047951
91Aplasia/Hypoplasia of the thymus (HP:0010515)2.08324163
92Gingival bleeding (HP:0000225)2.07298963
93Vertebral arch anomaly (HP:0008438)2.06362611
94Pulmonary infiltrates (HP:0002113)2.06223317
95Increased IgE level (HP:0003212)2.04226814
96Hypoproteinemia (HP:0003075)2.03930447
97Large eyes (HP:0001090)2.01474846
98Hemoptysis (HP:0002105)2.01165174
99Neutropenia (HP:0001875)1.98433275
100Poikiloderma (HP:0001029)1.96599286
101Viral hepatitis (HP:0006562)1.96571879
102Mitral stenosis (HP:0001718)1.91368015
103Microcytic anemia (HP:0001935)1.90902723
104Skin ulcer (HP:0200042)1.90037209
105Reduced subcutaneous adipose tissue (HP:0003758)1.83606000
106Thrombocytosis (HP:0001894)1.83320815
107Cheilitis (HP:0100825)1.80999331
108Arthralgia (HP:0002829)1.79931732
109Leukopenia (HP:0001882)1.78784826
110Bronchiectasis (HP:0002110)1.78593246
111Small epiphyses (HP:0010585)1.77833356
112Entropion (HP:0000621)1.77384231
113Gingivitis (HP:0000230)1.74731065
114Retrobulbar optic neuritis (HP:0100654)1.72928134
115Optic neuritis (HP:0100653)1.72928134
116Periodontitis (HP:0000704)1.70191421
117Chest pain (HP:0100749)1.64448385
118Gastrointestinal infarctions (HP:0005244)1.63365728
119Prominent nose (HP:0000448)1.63119549
120Abnormality of the thymus (HP:0000777)1.63058107

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP4K16.40332264
2TXK4.59766150
3ZAP702.83735678
4ITK2.81539471
5JAK32.78845208
6NLK2.75882884
7IKBKE2.73221282
8MAP3K102.65753706
9GRK62.61540992
10STK102.47691335
11TAOK32.43493061
12TYK22.43074923
13FGFR42.37929766
14KDR2.36496391
15IRAK42.18429423
16BLK1.99639492
17SYK1.98540673
18PRPF4B1.93547337
19TBK11.93279121
20LCK1.90796702
21MAP3K141.84822055
22JAK11.82115482
23TESK21.81097850
24CSK1.73247691
25BTK1.71360130
26MST41.68895332
27TNK21.62945864
28FGFR31.55157783
29TEC1.45156471
30BMPR21.40779047
31HCK1.37579712
32SIK21.36379126
33PASK1.35069860
34CSF1R1.34635979
35PRKCQ1.30537574
36PRKCH1.22318339
37MAP3K131.21815911
38MARK31.19774121
39LYN1.18834779
40TLK11.12971871
41LRRK21.08176217
42CLK11.05528219
43TRIB31.04870048
44STK41.01317879
45CAMKK21.00697398
46MAP2K30.98741026
47IRAK10.98640302
48PIM10.93184983
49EEF2K0.92662755
50FES0.90392195
51FGR0.90063488
52IKBKB0.89724115
53IRAK20.87138682
54CAMKK10.84824056
55KIT0.84345998
56SIK30.83927801
57GRK70.83048904
58MAPK110.82553644
59RIPK40.81166182
60RPS6KA40.73167237
61CDK120.73122383
62EPHB10.70572777
63CDK40.70513245
64JAK20.68857414
65ERN10.67621321
66GRK10.64235745
67MAPK120.64011028
68NEK20.62998583
69CDC42BPA0.62386745
70PIK3CG0.61412506
71BRD40.61285013
72MAP3K70.60630422
73HIPK20.60538526
74TAOK10.58013619
75NME20.57249044
76FRK0.57042263
77ADRBK20.54258638
78PRKD20.54195677
79PDGFRB0.50961228
80MAPK70.50367088
81INSR0.49749534
82CHUK0.49729794
83TGFBR20.48752397
84MAP3K30.47702571
85FYN0.47549748
86PDK10.47414392
87MELK0.47285963
88NUAK10.46505317
89SRPK10.45339636
90NTRK20.44696015
91MAP3K110.42866030
92YES10.42688183
93FGFR20.42228258
94PKN20.42055036
95CDK60.41386652
96ZAK0.41306218
97MAP2K60.41208670
98MATK0.41173706
99CDK90.38966696
100EPHA30.37650927
101MAP3K10.37335238
102MAPK40.36700851
103CDC70.35730800
104MARK20.33852317
105MAP2K20.32665402
106PTK2B0.32511540
107BUB10.31770940
108TYRO30.29716635
109MAPK30.28372921
110ABL10.27873113
111DYRK1B0.27100672
112STK110.26475647
113TAOK20.26268924
114IRAK30.25370864
115ALK0.24737311
116CDK190.24568808
117IGF1R0.22804243
118PTK60.22319820
119MAP3K50.21965439
120TESK10.21881517
121EGFR0.21072695
122ATR0.20805753
123PDPK10.19736281
124PRKCD0.18810080
125NEK90.17638428
126ACVR1B0.17412073
127CHEK10.17277241
128RPS6KA50.15824472
129SRC0.15674998
130MAPKAPK20.15021681
131AURKB0.14518432

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary immunodeficiency_Homo sapiens_hsa053407.07180447
2T cell receptor signaling pathway_Homo sapiens_hsa046603.44375179
3Intestinal immune network for IgA production_Homo sapiens_hsa046723.20494102
4B cell receptor signaling pathway_Homo sapiens_hsa046622.75951899
5Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046502.73322625
6NF-kappa B signaling pathway_Homo sapiens_hsa040642.67549960
7Measles_Homo sapiens_hsa051622.55186006
8Hematopoietic cell lineage_Homo sapiens_hsa046402.41989290
9Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.22761055
10Allograft rejection_Homo sapiens_hsa053302.16632631
11Graft-versus-host disease_Homo sapiens_hsa053322.14783336
12Antigen processing and presentation_Homo sapiens_hsa046122.10660425
13Non-homologous end-joining_Homo sapiens_hsa034502.08074625
14Osteoclast differentiation_Homo sapiens_hsa043801.81478510
15Viral myocarditis_Homo sapiens_hsa054161.74867447
16Leishmaniasis_Homo sapiens_hsa051401.68884552
17Autoimmune thyroid disease_Homo sapiens_hsa053201.64908149
18Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.59687690
19Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.56634508
20RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.53982898
21Herpes simplex infection_Homo sapiens_hsa051681.51824098
22Mismatch repair_Homo sapiens_hsa034301.47079916
23Jak-STAT signaling pathway_Homo sapiens_hsa046301.37200410
24Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.35407350
25Base excision repair_Homo sapiens_hsa034101.33411683
26Chemokine signaling pathway_Homo sapiens_hsa040621.28321091
27Hepatitis B_Homo sapiens_hsa051611.26297452
28DNA replication_Homo sapiens_hsa030301.26238951
29Leukocyte transendothelial migration_Homo sapiens_hsa046701.24461710
30Spliceosome_Homo sapiens_hsa030401.18658916
31Acute myeloid leukemia_Homo sapiens_hsa052211.09600821
32Shigellosis_Homo sapiens_hsa051311.09183361
33Toll-like receptor signaling pathway_Homo sapiens_hsa046201.08142507
34HTLV-I infection_Homo sapiens_hsa051661.04868864
35Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.03514134
36Influenza A_Homo sapiens_hsa051641.02399829
37Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.99420442
38Epstein-Barr virus infection_Homo sapiens_hsa051690.97374663
39Toxoplasmosis_Homo sapiens_hsa051450.96701853
40NOD-like receptor signaling pathway_Homo sapiens_hsa046210.96033131
41Apoptosis_Homo sapiens_hsa042100.90996459
42Viral carcinogenesis_Homo sapiens_hsa052030.89767349
43Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.89238393
44Pancreatic cancer_Homo sapiens_hsa052120.86562708
45Colorectal cancer_Homo sapiens_hsa052100.86448559
46Tuberculosis_Homo sapiens_hsa051520.86094683
47Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.85940781
48p53 signaling pathway_Homo sapiens_hsa041150.83804969
49Type I diabetes mellitus_Homo sapiens_hsa049400.82116298
50TNF signaling pathway_Homo sapiens_hsa046680.81968414
51Transcriptional misregulation in cancer_Homo sapiens_hsa052020.81315705
52Platelet activation_Homo sapiens_hsa046110.80633761
53African trypanosomiasis_Homo sapiens_hsa051430.79433982
54Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.77006244
55Nucleotide excision repair_Homo sapiens_hsa034200.76838769
56Chronic myeloid leukemia_Homo sapiens_hsa052200.76264625
57Phagosome_Homo sapiens_hsa041450.74871455
58Homologous recombination_Homo sapiens_hsa034400.74649442
59Asthma_Homo sapiens_hsa053100.74178834
60Proteasome_Homo sapiens_hsa030500.70781808
61Systemic lupus erythematosus_Homo sapiens_hsa053220.69328462
62Hepatitis C_Homo sapiens_hsa051600.67909707
63Non-small cell lung cancer_Homo sapiens_hsa052230.66081896
64Phosphatidylinositol signaling system_Homo sapiens_hsa040700.65684675
65Salmonella infection_Homo sapiens_hsa051320.64829104
66Staphylococcus aureus infection_Homo sapiens_hsa051500.64784547
67Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.64117221
68Ribosome_Homo sapiens_hsa030100.63264947
69AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.60454530
70Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.58840050
71mRNA surveillance pathway_Homo sapiens_hsa030150.57802478
72VEGF signaling pathway_Homo sapiens_hsa043700.57598040
73Malaria_Homo sapiens_hsa051440.56952368
74Pertussis_Homo sapiens_hsa051330.56538220
75Legionellosis_Homo sapiens_hsa051340.54910199
76RNA degradation_Homo sapiens_hsa030180.53089096
77Regulation of autophagy_Homo sapiens_hsa041400.51800469
78Small cell lung cancer_Homo sapiens_hsa052220.47083773
79SNARE interactions in vesicular transport_Homo sapiens_hsa041300.45784858
80Neurotrophin signaling pathway_Homo sapiens_hsa047220.45691427
81Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.44669134
82Cell cycle_Homo sapiens_hsa041100.44666410
83Fanconi anemia pathway_Homo sapiens_hsa034600.44582212
84Carbohydrate digestion and absorption_Homo sapiens_hsa049730.44486075
85Prolactin signaling pathway_Homo sapiens_hsa049170.41312855
86alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.39583251
87FoxO signaling pathway_Homo sapiens_hsa040680.39147838
88Prostate cancer_Homo sapiens_hsa052150.39021736
89Endometrial cancer_Homo sapiens_hsa052130.37984244
90Other glycan degradation_Homo sapiens_hsa005110.37893761
91Endocytosis_Homo sapiens_hsa041440.36902518
92Notch signaling pathway_Homo sapiens_hsa043300.35881663
93Regulation of actin cytoskeleton_Homo sapiens_hsa048100.35690487
94Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.34997286
95Thyroid cancer_Homo sapiens_hsa052160.33354221
96Sphingolipid signaling pathway_Homo sapiens_hsa040710.33052178
97ABC transporters_Homo sapiens_hsa020100.32951765
98RNA transport_Homo sapiens_hsa030130.32838169
99Inositol phosphate metabolism_Homo sapiens_hsa005620.32440506
100Choline metabolism in cancer_Homo sapiens_hsa052310.31982875
101Thyroid hormone signaling pathway_Homo sapiens_hsa049190.31927891
102Rheumatoid arthritis_Homo sapiens_hsa053230.31424472
103MAPK signaling pathway_Homo sapiens_hsa040100.29336776
104Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.27935984
105Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.27711695
106Dorso-ventral axis formation_Homo sapiens_hsa043200.23646548
107Phospholipase D signaling pathway_Homo sapiens_hsa040720.22858508
108Adipocytokine signaling pathway_Homo sapiens_hsa049200.22539287
109Linoleic acid metabolism_Homo sapiens_hsa005910.21852627
110Insulin resistance_Homo sapiens_hsa049310.21741984
111Rap1 signaling pathway_Homo sapiens_hsa040150.21412096
112Glycerophospholipid metabolism_Homo sapiens_hsa005640.20484772
113Phototransduction_Homo sapiens_hsa047440.20270682
114Pentose phosphate pathway_Homo sapiens_hsa000300.19575345
115Pyrimidine metabolism_Homo sapiens_hsa002400.19553846
116Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.19385847
117Renal cell carcinoma_Homo sapiens_hsa052110.18960612
118Ras signaling pathway_Homo sapiens_hsa040140.18757948
119mTOR signaling pathway_Homo sapiens_hsa041500.16956144
120Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.16349646
121Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.15464188
122Type II diabetes mellitus_Homo sapiens_hsa049300.14516365
123Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.13888079
124Lysosome_Homo sapiens_hsa041420.09077495
125Glycerolipid metabolism_Homo sapiens_hsa005610.07798094
126HIF-1 signaling pathway_Homo sapiens_hsa040660.06506284

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