NCKAP1L

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 member of the HEM family of tissue-specific transmembrane proteins which are highly conserved from invertebrates through mammals. This gene is only expressed in hematopoietic cells. The encoded protein is a part of the Scar/WAVE complex which plays an important role in regulating cell shape in both metazoans and plants. Alternatively spliced transcript variants encoding different isoforms have been found. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1positive regulation by symbiont of host defense response (GO:0052509)6.00642212
2modulation by symbiont of host defense response (GO:0052031)6.00642212
3modulation by organism of immune response of other organism involved in symbiotic interaction (GO:006.00642212
4modulation by organism of defense response of other organism involved in symbiotic interaction (GO:06.00642212
5positive regulation by organism of defense response of other organism involved in symbiotic interact6.00642212
6modulation by symbiont of host immune response (GO:0052553)6.00642212
7antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G5.75036440
8regulation of interferon-beta biosynthetic process (GO:0045357)5.38840046
9regulation of B cell receptor signaling pathway (GO:0050855)4.99013109
10neutrophil activation involved in immune response (GO:0002283)4.71973023
11macrophage activation involved in immune response (GO:0002281)4.67238848
12antigen processing and presentation of endogenous peptide antigen (GO:0002483)4.61562275
13antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)4.61562275
14antigen processing and presentation of endogenous antigen (GO:0019883)4.56236572
15negative regulation of leukocyte mediated cytotoxicity (GO:0001911)4.45753680
16negative regulation of cell killing (GO:0031342)4.45753680
17positive regulation of interferon-alpha production (GO:0032727)4.44922545
18* positive regulation of gamma-delta T cell activation (GO:0046645)4.34877827
19immunoglobulin mediated immune response (GO:0016064)4.27252281
20regulation of interferon-alpha production (GO:0032647)4.24689136
21detection of other organism (GO:0098543)4.23917884
22response to peptidoglycan (GO:0032494)4.11510442
23detection of bacterium (GO:0016045)4.04515045
24response to host immune response (GO:0052572)3.96738943
25response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.96738943
26respiratory burst (GO:0045730)3.92743313
27positive regulation of antigen processing and presentation (GO:0002579)3.87490483
28regulation of antigen processing and presentation of peptide antigen (GO:0002583)3.87473651
29response to muramyl dipeptide (GO:0032495)3.85550272
30microglial cell activation (GO:0001774)3.78769073
31myeloid cell activation involved in immune response (GO:0002275)3.78314567
32negative regulation of erythrocyte differentiation (GO:0045647)3.77672123
33positive regulation of interleukin-8 biosynthetic process (GO:0045416)3.76961638
34neutrophil activation (GO:0042119)3.71885352
35regulation of interleukin-12 biosynthetic process (GO:0045075)3.71053517
36negative regulation of T cell mediated immunity (GO:0002710)3.71035587
37* B cell receptor signaling pathway (GO:0050853)3.71033690
38positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.70740810
39response to host (GO:0075136)3.69958209
40response to host defenses (GO:0052200)3.69958209
41response to defenses of other organism involved in symbiotic interaction (GO:0052173)3.69958209
42positive T cell selection (GO:0043368)3.62958326
43detection of external biotic stimulus (GO:0098581)3.61925633
44leukocyte aggregation (GO:0070486)3.61873305
45granulocyte activation (GO:0036230)3.60082934
46T cell selection (GO:0045058)3.52365284
47negative regulation of lymphocyte mediated immunity (GO:0002707)3.49959882
48* positive regulation of B cell differentiation (GO:0045579)3.47804948
49detection of molecule of bacterial origin (GO:0032490)3.45092995
50cellular extravasation (GO:0045123)3.43376371
51* regulation of B cell differentiation (GO:0045577)3.35250968
52positive regulation of granulocyte differentiation (GO:0030854)3.34518350
53response to interleukin-15 (GO:0070672)3.30651645
54pinocytosis (GO:0006907)3.28796964
55positive thymic T cell selection (GO:0045059)3.28414909
56positive regulation of interferon-beta production (GO:0032728)3.27958152
57regulation of myeloid leukocyte mediated immunity (GO:0002886)3.27304098
58thymic T cell selection (GO:0045061)3.27086538
59natural killer cell mediated cytotoxicity (GO:0042267)3.26966052
60natural killer cell mediated immunity (GO:0002228)3.26966052
61negative regulation of leukocyte mediated immunity (GO:0002704)3.26782787
62regulation of antigen processing and presentation (GO:0002577)3.24758596
63defense response to protozoan (GO:0042832)3.23886202
64NIK/NF-kappaB signaling (GO:0038061)3.23785715
65B cell mediated immunity (GO:0019724)3.22563649
66neutrophil mediated immunity (GO:0002446)3.21787535
67myeloid dendritic cell activation (GO:0001773)3.21462575
68macrophage activation (GO:0042116)3.21182192
69detection of biotic stimulus (GO:0009595)3.21162942
70positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)3.19782069
71regulation of leukocyte degranulation (GO:0043300)3.18934697
72negative regulation of interleukin-12 production (GO:0032695)3.18525049
73tolerance induction (GO:0002507)3.18523043
74germinal center formation (GO:0002467)3.18436702
75negative regulation of granulocyte differentiation (GO:0030853)3.15962199
76positive regulation of mast cell activation involved in immune response (GO:0033008)3.15324196
77positive regulation of mast cell degranulation (GO:0043306)3.15324196
78interferon-gamma-mediated signaling pathway (GO:0060333)3.12924854
79regulation of tolerance induction (GO:0002643)3.10513618
80T cell migration (GO:0072678)3.10033522
81regulation of alpha-beta T cell proliferation (GO:0046640)3.09116387
82mature B cell differentiation (GO:0002335)3.08062276
83response to type I interferon (GO:0034340)3.07896974
84regulation of antigen receptor-mediated signaling pathway (GO:0050854)3.07521252
85regulation of T cell tolerance induction (GO:0002664)3.06820259
86Arp2/3 complex-mediated actin nucleation (GO:0034314)3.05892467
87type I interferon signaling pathway (GO:0060337)3.05316022
88cellular response to type I interferon (GO:0071357)3.05316022
89activated T cell proliferation (GO:0050798)3.03738958
90regulation of mast cell degranulation (GO:0043304)3.03212230
91regulation of tumor necrosis factor biosynthetic process (GO:0042534)3.02147781
92negative thymic T cell selection (GO:0045060)3.01662187
93I-kappaB phosphorylation (GO:0007252)3.01591499
94negative regulation of phagocytosis (GO:0050765)3.00365472
95response to protozoan (GO:0001562)2.98957606
96myeloid dendritic cell differentiation (GO:0043011)2.98079907
97myeloid leukocyte activation (GO:0002274)2.96578640
98cellular response to interleukin-15 (GO:0071350)2.96506395
99negative T cell selection (GO:0043383)2.94005256
100mast cell activation (GO:0045576)2.93533632
101lipopolysaccharide-mediated signaling pathway (GO:0031663)2.92728937
102positive regulation of interferon-gamma biosynthetic process (GO:0045078)2.92548766
103positive regulation of mast cell activation (GO:0033005)2.92400538
104regulation of mast cell activation (GO:0033003)2.91695817
105regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)2.90278881
106leukocyte cell-cell adhesion (GO:0007159)2.89542504
107regulation of interleukin-2 biosynthetic process (GO:0045076)2.88379033
108regulation of granulocyte differentiation (GO:0030852)2.85459472
109negative regulation of B cell proliferation (GO:0030889)2.83363144
110regulation of mast cell activation involved in immune response (GO:0033006)2.82665819
111antigen processing and presentation via MHC class Ib (GO:0002475)2.81773449
112negative regulation of antigen receptor-mediated signaling pathway (GO:0050858)2.81060670
113* regulation of gamma-delta T cell activation (GO:0046643)2.80517803
114regulation of dendritic cell antigen processing and presentation (GO:0002604)2.79962128
115cellular response to zinc ion (GO:0071294)2.79820587
116JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)2.76986550
117regulation of interleukin-8 biosynthetic process (GO:0045414)2.74023517
118leukocyte mediated cytotoxicity (GO:0001909)2.72302559
119adaptive immune response based on somatic recombination of immune receptors built from immunoglobuli2.69076452
120leukocyte degranulation (GO:0043299)2.68178445
121positive regulation of interleukin-2 biosynthetic process (GO:0045086)2.67110935
122* regulation of gamma-delta T cell differentiation (GO:0045586)2.67033363
123dendritic cell differentiation (GO:0097028)2.67018295
124interferon-gamma production (GO:0032609)2.65780954
125positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)2.63059001
126B cell proliferation (GO:0042100)2.62429582
127cellular response to interferon-beta (GO:0035458)2.62199745

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_22096565_ChIP-ChIP_GC-B_Human5.63039445
2IRF8_21731497_ChIP-ChIP_J774_Mouse5.42205181
3BP1_19119308_ChIP-ChIP_Hs578T_Human4.22450611
4FOXP3_17237761_ChIP-ChIP_TREG_Mouse4.05860837
5* IRF8_27001747_Chip-Seq_BMDM_Mouse3.92030132
6* SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse3.77437488
7* MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.75336657
8STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.74177561
9IRF8_22096565_ChIP-ChIP_GC-B_Mouse3.71091678
10E2F7_22180533_ChIP-Seq_HELA_Human3.60593468
11* NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse3.35984078
12EGR1_19374776_ChIP-ChIP_THP-1_Human3.34143565
13MYB_21317192_ChIP-Seq_ERMYB_Mouse3.06603123
14* SPI1_22096565_ChIP-ChIP_GC-B_Mouse3.04729663
15IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.88429249
16STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.81585680
17SCL_19346495_ChIP-Seq_HPC-7_Human2.81253753
18VDR_21846776_ChIP-Seq_THP-1_Human2.65196159
19Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.57216151
20NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.53582847
21* SPI1_23547873_ChIP-Seq_NB4_Human2.49975848
22MYC_22102868_ChIP-Seq_BL_Human2.48457398
23STAT4_19710469_ChIP-ChIP_TH1__Mouse2.42766995
24BRD4_27068464_Chip-Seq_AML-cells_Mouse2.38736304
25MYB_26560356_Chip-Seq_TH2_Human2.30994220
26NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.28823868
27RUNX_20019798_ChIP-Seq_JUKART_Human2.27923217
28FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse2.27383142
29VDR_24763502_ChIP-Seq_THP-1_Human2.22425842
30MAF_26560356_Chip-Seq_TH1_Human2.20180378
31RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.16515361
32ASXL1_24218140_ChIP-Seq_BMDM_Mouse2.16203762
33* SPI1_23127762_ChIP-Seq_K562_Human2.13237228
34RUNX1_22412390_ChIP-Seq_EML_Mouse2.12073189
35* SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.11026131
36MYB_26560356_Chip-Seq_TH1_Human2.03946690
37RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.85917834
38E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.85623647
39CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.84708958
40UTX_26944678_Chip-Seq_JUKART_Human1.83910374
41TCF7_22412390_ChIP-Seq_EML_Mouse1.81241689
42FOXM1_23109430_ChIP-Seq_U2OS_Human1.80300763
43PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.79814069
44* PU_27001747_Chip-Seq_BMDM_Mouse1.73456000
45MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.71252312
46VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.69010320
47* FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.66563857
48STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.49530153
49* CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.48848099
50GATA3_27048872_Chip-Seq_THYMUS_Human1.48393173
51GATA2_22383799_ChIP-Seq_G1ME_Mouse1.47314368
52* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.45361564
53GATA1_22025678_ChIP-Seq_K562_Human1.40628400
54CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.38485309
55* LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.36810706
56NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.35293260
57KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.34869439
58VDR_24787735_ChIP-Seq_THP-1_Human1.34585312
59* MAF_26560356_Chip-Seq_TH2_Human1.29436976
60TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.28383204
61PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.26790029
62* GATA1_22383799_ChIP-Seq_G1ME_Mouse1.23401888
63KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.23150647
64KDM2B_26808549_Chip-Seq_DND41_Human1.23048112
65SMAD_19615063_ChIP-ChIP_OVARY_Human1.22741584
66TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.22492517
67GATA3_26560356_Chip-Seq_TH2_Human1.19937471
68ELK3_25401928_ChIP-Seq_HUVEC_Human1.17614688
69KDM2B_26808549_Chip-Seq_SUP-B15_Human1.16719140
70* CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.13759405
71GATA1_19941827_ChIP-Seq_MEL_Mouse1.13425978
72TFEB_21752829_ChIP-Seq_HELA_Human1.10861409
73LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.10318355
74* CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.10177990
75* SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.08536374
76GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.06296870
77* PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.04685210
78GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.03185652
79STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.00376457
80NOTCH1_21737748_ChIP-Seq_TLL_Human0.99469482
81VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human0.99274641
82* PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.98171075
83ERG_20887958_ChIP-Seq_HPC-7_Mouse0.98015028
84GATA2_21666600_ChIP-Seq_HMVEC_Human0.96391782
85IKZF1_21737484_ChIP-ChIP_HCT116_Human0.94268702
86THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.93844521
87* HOXB4_20404135_ChIP-ChIP_EML_Mouse0.93450526
88KDM2B_26808549_Chip-Seq_JURKAT_Human0.92434592
89BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.87567938
90PU.1_20513432_ChIP-Seq_Bcells_Mouse0.86512568
91E2F4_17652178_ChIP-ChIP_JURKAT_Human0.85164720
92* BCL6_27268052_Chip-Seq_Bcells_Human0.83442431
93LXR_22292898_ChIP-Seq_THP-1_Human0.82598942
94CIITA_25753668_ChIP-Seq_RAJI_Human0.82438440
95SMRT_27268052_Chip-Seq_Bcells_Human0.80711744
96ELF1_17652178_ChIP-ChIP_JURKAT_Human0.80004373
97GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.79568030
98SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.79548030
99GATA2_19941826_ChIP-Seq_K562_Human0.78738381
100BCOR_27268052_Chip-Seq_Bcells_Human0.77829275
101GATA1_19941826_ChIP-Seq_K562_Human0.76485670
102NCOR1_26117541_ChIP-Seq_K562_Human0.75227522
103SPI1_20517297_ChIP-Seq_HL60_Human0.73395143
104RUNX1_17652178_ChIP-ChIP_JURKAT_Human0.67902491
105TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.67551834
106RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.67322071
107GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.65514579
108* ETS1_22383799_ChIP-Seq_G1ME_Mouse0.64944489
109* FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.62480257
110CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.62193352

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001835_abnormal_antigen_presentation4.39515924
2MP0003303_peritoneal_inflammation3.43525719
3MP0003436_decreased_susceptibility_to3.30767989
4MP0001800_abnormal_humoral_immune3.03459881
5MP0005058_abnormal_lysosome_morphology3.01924303
6MP0001790_abnormal_immune_system2.97880597
7MP0005387_immune_system_phenotype2.97880597
8MP0005000_abnormal_immune_tolerance2.97019609
9MP0000685_abnormal_immune_system2.96899128
10MP0005671_abnormal_response_to2.92601853
11* MP0002419_abnormal_innate_immunity2.89300610
12MP0000569_abnormal_digit_pigmentation2.86667083
13* MP0002452_abnormal_antigen_presenting2.84797106
14MP0009785_altered_susceptibility_to2.77773356
15MP0006082_CNS_inflammation2.69390427
16MP0005025_abnormal_response_to2.65999637
17* MP0002723_abnormal_immune_serum2.64352575
18MP0003172_abnormal_lysosome_physiology2.57282944
19MP0002148_abnormal_hypersensitivity_rea2.55103193
20* MP0002420_abnormal_adaptive_immunity2.51464149
21* MP0001819_abnormal_immune_cell2.51056396
22MP0005464_abnormal_platelet_physiology2.43453520
23MP0002396_abnormal_hematopoietic_system2.14231792
24* MP0002398_abnormal_bone_marrow2.13927481
25MP0003300_gastrointestinal_ulcer2.12862263
26MP0004510_myositis2.04411712
27* MP0000716_abnormal_immune_system2.03244491
28MP0002166_altered_tumor_susceptibility2.01988084
29* MP0002405_respiratory_system_inflammati1.95615372
30MP0009278_abnormal_bone_marrow1.94928278
31* MP0000689_abnormal_spleen_morphology1.92167721
32MP0005174_abnormal_tail_pigmentation1.90389584
33MP0003763_abnormal_thymus_physiology1.84386861
34MP0003191_abnormal_cellular_cholesterol1.83934922
35MP0004947_skin_inflammation1.82208510
36MP0003724_increased_susceptibility_to1.80124911
37* MP0001845_abnormal_inflammatory_respons1.75113042
38* MP0002722_abnormal_immune_system1.74984900
39MP0002006_tumorigenesis1.69904697
40* MP0002429_abnormal_blood_cell1.69675509
41MP0001533_abnormal_skeleton_physiology1.69418575
42MP0010155_abnormal_intestine_physiology1.69199937
43MP0009333_abnormal_splenocyte_physiolog1.64690594
44MP0005397_hematopoietic_system_phenotyp1.64371196
45MP0001545_abnormal_hematopoietic_system1.64371196
46MP0003183_abnormal_peptide_metabolism1.61940784
47MP0004808_abnormal_hematopoietic_stem1.58057149
48MP0001873_stomach_inflammation1.54986611
49MP0000465_gastrointestinal_hemorrhage1.48974706
50MP0005310_abnormal_salivary_gland1.46871100
51MP0009840_abnormal_foam_cell1.44257366
52* MP0008469_abnormal_protein_level1.43163411
53MP0003448_altered_tumor_morphology1.42298889
54MP0005451_abnormal_body_composition1.39608818
55MP0010307_abnormal_tumor_latency1.39608179
56MP0008260_abnormal_autophagy1.38310830
57MP0000015_abnormal_ear_pigmentation1.34643694
58* MP0000703_abnormal_thymus_morphology1.30719145
59MP0000858_altered_metastatic_potential1.23038512
60MP0000343_altered_response_to1.21366515
61MP0004381_abnormal_hair_follicle1.18967786
62MP0002933_joint_inflammation1.18587813
63* MP0001853_heart_inflammation1.16442673
64MP0004883_abnormal_blood_vessel1.15163504
65MP0000490_abnormal_crypts_of1.13475387
66MP0002998_abnormal_bone_remodeling1.09576730
67MP0001851_eye_inflammation1.09116802
68MP0003866_abnormal_defecation1.08521246
69MP0002009_preneoplasia1.07374053
70MP0009764_decreased_sensitivity_to1.05861952
71MP0003075_altered_response_to1.03916018
72MP0002132_abnormal_respiratory_system1.02262739
73MP0003566_abnormal_cell_adhesion1.00542262
74MP0000371_diluted_coat_color0.94750327
75MP0005076_abnormal_cell_differentiation0.90335657
76MP0005166_decreased_susceptibility_to0.89977559
77MP0003690_abnormal_glial_cell0.89220091
78MP0009763_increased_sensitivity_to0.85890802
79MP0003828_pulmonary_edema0.85405029
80MP0010352_gastrointestinal_tract_polyps0.81271451
81MP0005075_abnormal_melanosome_morpholog0.79806605
82MP0005164_abnormal_response_to0.78930684
83MP0002019_abnormal_tumor_incidence0.78094194
84MP0008004_abnormal_stomach_pH0.75330944
85MP0000249_abnormal_blood_vessel0.71946982
86MP0002095_abnormal_skin_pigmentation0.71723640
87MP0009765_abnormal_xenobiotic_induced0.70737218
88MP0003091_abnormal_cell_migration0.69463757
89MP0005390_skeleton_phenotype0.69217560
90MP0001986_abnormal_taste_sensitivity0.67604625
91MP0002138_abnormal_hepatobiliary_system0.67457197
92MP0009115_abnormal_fat_cell0.66307243
93MP0005023_abnormal_wound_healing0.64812609
94MP0008057_abnormal_DNA_replication0.61554079
95MP0002136_abnormal_kidney_physiology0.61436396
96MP0003795_abnormal_bone_structure0.60352059
97MP0003806_abnormal_nucleotide_metabolis0.58586664
98MP0001663_abnormal_digestive_system0.58560612
99MP0002277_abnormal_respiratory_mucosa0.58027575
100MP0003453_abnormal_keratinocyte_physiol0.56093848
101* MP0000604_amyloidosis0.55892037
102MP0001915_intracranial_hemorrhage0.55539420
103MP0008873_increased_physiological_sensi0.55097228
104MP0002254_reproductive_system_inflammat0.54440417
105MP0008874_decreased_physiological_sensi0.54433153
106MP0000767_abnormal_smooth_muscle0.53189275
107MP0002928_abnormal_bile_duct0.53108770
108MP0004130_abnormal_muscle_cell0.52150730
109MP0008007_abnormal_cellular_replicative0.52066054
110MP0003077_abnormal_cell_cycle0.52049788
111MP0000313_abnormal_cell_death0.52005502
112MP0003221_abnormal_cardiomyocyte_apopto0.51405053
113* MP0003656_abnormal_erythrocyte_physiolo0.51002921
114MP0003045_fibrosis0.50459786
115MP0005257_abnormal_intraocular_pressure0.50413797
116MP0005621_abnormal_cell_physiology0.50158669
117* MP0000609_abnormal_liver_physiology0.48775591
118MP0000920_abnormal_myelination0.48079490

Predicted human phenotypes

RankGene SetZ-score
1Recurrent abscess formation (HP:0002722)6.49978507
2Recurrent bacterial skin infections (HP:0005406)5.94118434
3Eczematoid dermatitis (HP:0000976)5.50612376
4Recurrent gram-negative bacterial infections (HP:0005420)4.34886352
5Increased cerebral lipofuscin (HP:0011813)4.23324739
6Recurrent fungal infections (HP:0002841)4.20790057
7Recurrent viral infections (HP:0004429)4.17017921
8Abnormality of macrophages (HP:0004311)4.11004148
9Myositis (HP:0100614)3.95151745
10Vacuolated lymphocytes (HP:0001922)3.93220066
11Recurrent skin infections (HP:0001581)3.92007633
12Elevated erythrocyte sedimentation rate (HP:0003565)3.87528734
13Mediastinal lymphadenopathy (HP:0100721)3.86278769
14Systemic lupus erythematosus (HP:0002725)3.76522418
15Increased neuronal autofluorescent lipopigment (HP:0002074)3.74861901
16Cellulitis (HP:0100658)3.69441534
17Obstructive lung disease (HP:0006536)3.49572572
18Chronic obstructive pulmonary disease (HP:0006510)3.49572572
19Autoimmune thrombocytopenia (HP:0001973)3.40605422
20Chronic otitis media (HP:0000389)3.32423036
21Colitis (HP:0002583)3.31118613
22Abnormality of liposaccharide metabolism (HP:0010968)3.30745287
23Abnormality of glycosphingolipid metabolism (HP:0004343)3.30745287
24Abnormality of glycolipid metabolism (HP:0010969)3.30745287
25Stomatitis (HP:0010280)3.29523035
26Meningitis (HP:0001287)3.29191906
27Gingivitis (HP:0000230)3.26555233
28Inflammation of the large intestine (HP:0002037)3.22047339
29Orchitis (HP:0100796)3.21119001
30Recurrent cutaneous fungal infections (HP:0011370)3.18276078
31Chronic mucocutaneous candidiasis (HP:0002728)3.18276078
32Vasculitis (HP:0002633)3.17298458
33IgM deficiency (HP:0002850)3.13903355
34Dysostosis multiplex (HP:0000943)3.08931451
35Optic neuritis (HP:0100653)3.08742385
36Retrobulbar optic neuritis (HP:0100654)3.08742385
37Gastrointestinal inflammation (HP:0004386)3.08073453
38Agammaglobulinemia (HP:0004432)3.05181943
39Gastrointestinal infarctions (HP:0005244)3.04505732
40Periodontitis (HP:0000704)3.01174423
41Disinhibition (HP:0000734)2.96485000
42Abnormal delayed hypersensitivity skin test (HP:0002963)2.90611090
43Panhypogammaglobulinemia (HP:0003139)2.88924130
44Pustule (HP:0200039)2.86811863
45Osteomyelitis (HP:0002754)2.86424445
46Recurrent bronchitis (HP:0002837)2.78662047
47Chest pain (HP:0100749)2.78422988
48Hematochezia (HP:0002573)2.74955945
49Glomerulonephritis (HP:0000099)2.73071982
50Spontaneous hematomas (HP:0007420)2.71497339
51Keratoconjunctivitis sicca (HP:0001097)2.69712491
52Leukocytosis (HP:0001974)2.69707168
53T lymphocytopenia (HP:0005403)2.59768733
54Eosinophilia (HP:0001880)2.57925983
55Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.57410021
56Agnosia (HP:0010524)2.57104733
57Abnormality of T cell number (HP:0011839)2.56998238
58Pulmonary infiltrates (HP:0002113)2.52961340
59Thyroiditis (HP:0100646)2.52833478
60Urinary glycosaminoglycan excretion (HP:0003541)2.49516686
61Mucopolysacchariduria (HP:0008155)2.49516686
62Interstitial pulmonary disease (HP:0006530)2.49360436
63Thrombocytosis (HP:0001894)2.48853200
64Keratoconjunctivitis (HP:0001096)2.48668995
65Arterial thrombosis (HP:0004420)2.48605231
66Autoimmune hemolytic anemia (HP:0001890)2.44309912
67Abnormality of polysaccharide metabolism (HP:0011012)2.43894472
68Abnormality of glycosaminoglycan metabolism (HP:0004371)2.43894472
69Abnormality of mucopolysaccharide metabolism (HP:0011020)2.43894472
70Prolonged bleeding time (HP:0003010)2.42991624
71Recurrent pneumonia (HP:0006532)2.42389274
72Nasal polyposis (HP:0100582)2.40393993
73Abnormality of T cells (HP:0002843)2.38795239
74Axonal loss (HP:0003447)2.38583960
75Loss of speech (HP:0002371)2.38081500
76Gingival bleeding (HP:0000225)2.37579133
77Gastrointestinal stroma tumor (HP:0100723)2.35950587
78Prostate neoplasm (HP:0100787)2.32612590
79Viral hepatitis (HP:0006562)2.32504484
80Petechiae (HP:0000967)2.32441204
81Basal ganglia calcification (HP:0002135)2.30567127
82Increased IgM level (HP:0003496)2.29963650
83Pulmonary embolism (HP:0002204)2.27488660
84Granulocytopenia (HP:0001913)2.26624632
85Lymphopenia (HP:0001888)2.26434965
86Abnormality of the fingertips (HP:0001211)2.26144487
87Epistaxis (HP:0000421)2.25939129
88Urticaria (HP:0001025)2.25324139
89Myocardial infarction (HP:0001658)2.22097993
90Abnormality of cells of the lymphoid lineage (HP:0012140)2.20819777
91Recurrent sinusitis (HP:0011108)2.17402786
92Abnormality of T cell physiology (HP:0011840)2.17277474
93Chronic diarrhea (HP:0002028)2.17127680
94Recurrent lower respiratory tract infections (HP:0002783)2.16718553
95Abnormal platelet function (HP:0011869)2.16205727
96Impaired platelet aggregation (HP:0003540)2.16205727
97Abnormality of the prostate (HP:0008775)2.16094835
98Abnormality of the nasal mucosa (HP:0000433)2.15885111
99Increased IgE level (HP:0003212)2.15220978
100Restrictive lung disease (HP:0002091)2.14982346
101Abnormality of eosinophils (HP:0001879)2.14305450
102Thoracic kyphosis (HP:0002942)2.12929950
103Hypergammaglobulinemia (HP:0010702)2.12604470
104Sepsis (HP:0100806)2.12473877
105Purpura (HP:0000979)2.12431910
106Hemoptysis (HP:0002105)2.11873114
107B lymphocytopenia (HP:0010976)2.11325632
108Abnormality of B cell number (HP:0010975)2.11325632
109Amaurosis fugax (HP:0100576)2.09020240
110Encephalitis (HP:0002383)2.07206058
111Hepatosplenomegaly (HP:0001433)2.06999640
112Verrucae (HP:0200043)2.06590489
113Papilloma (HP:0012740)2.06590489
114Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.05725990
115Abnormality of the pleura (HP:0002103)2.05717421
116Parkinsonism with favorable response to dopaminergic medication (HP:0002548)1.99115130
117Combined immunodeficiency (HP:0005387)1.98570436
118Increased serum ferritin (HP:0003281)1.97329334
119IgG deficiency (HP:0004315)1.97116297
120Skin ulcer (HP:0200042)1.95752168
121Severe combined immunodeficiency (HP:0004430)1.93655444

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP4K14.33566477
2TYK23.20432197
3BLK3.00059297
4PRPF4B2.89995959
5KIT2.85423794
6RIPK42.84794440
7MAP3K142.78026902
8IRAK42.72690139
9TBK12.63357631
10CSF1R2.44667037
11TXK2.35863487
12TGFBR22.35465605
13JAK32.31030504
14IRAK32.16291175
15IKBKE2.11546291
16ZAP702.10486815
17JAK11.95527113
18ERN11.91664270
19SYK1.90841375
20MAP3K131.89882230
21BTK1.89792089
22IKBKB1.88756997
23STK101.88186579
24FES1.74771244
25HCK1.70469621
26TAOK31.61829757
27MAP2K31.53914452
28MAP3K101.53142127
29CSK1.53079765
30ITK1.51486349
31LCK1.46118578
32TEC1.44963714
33EEF2K1.43932588
34GRK61.43492667
35BMPR21.36958202
36SIK21.31011716
37LYN1.30228737
38EPHB11.20342293
39CLK11.19028320
40PIK3CG1.18465378
41CAMK1D1.16088314
42RPS6KA41.13861162
43CHUK1.13516481
44PKN21.12253377
45PIM11.11265154
46CDK121.09807899
47JAK21.03141043
48TRIB31.01412386
49LRRK20.98603438
50FGFR30.98553666
51NEK90.91529835
52STK40.91278524
53MAP3K10.90864311
54MARK30.90565762
55MATK0.88445123
56FGFR40.85923841
57CAMK1G0.84916383
58FGR0.84422445
59TTN0.84390315
60SCYL20.81910725
61CDC42BPA0.79267260
62FLT30.78417045
63PTK60.77602085
64IRAK10.76780245
65NME20.76015664
66TRPM70.75232932
67CDK60.74133873
68TAOK10.74048084
69MARK20.68877351
70CAMKK10.68672506
71PDPK10.63927352
72TAOK20.63082371
73KSR20.60753471
74NEK20.60614668
75PAK40.60208150
76CDK40.59615378
77PIM20.58391979
78EGFR0.58351938
79IRAK20.57669694
80MAP3K60.56313361
81GRK70.55829008
82PRKCQ0.51251815
83ABL10.51007883
84MAP3K30.50787738
85PDK10.48588416
86SMG10.46622681
87MAP3K70.45226163
88MAPKAPK20.43964507
89PRKCD0.42023191
90MAP3K80.41836736
91RPS6KA60.41241235
92RET0.39007075
93SGK20.38550996
94TNK20.38138238
95YES10.37134253
96RIPK10.34999275
97FYN0.34699712
98MAP2K60.34488813
99CDK90.34073212
100CAMKK20.33839918
101HIPK20.33316390
102TESK20.33185761
103MAPK40.32452140
104NLK0.32041137
105ALK0.31727892
106MAPK120.31572479
107PRKCH0.31369729
108MOS0.30619372
109ATR0.29899638
110BRD40.29895742
111ACVR1B0.29496859
112RPS6KC10.28792678
113RPS6KL10.28792678
114MAPK110.28765487
115CAMK40.26936132
116EPHA30.26220749
117PRKD20.25795053
118MAP3K110.25458390
119IGF1R0.24486561
120MAP3K50.24411464
121SGK30.24171795
122PDGFRB0.23173577
123MAPK70.21842260
124SIK30.21529480

Predicted pathways (KEGG)

RankGene SetZ-score
1Leishmaniasis_Homo sapiens_hsa051403.07240233
2B cell receptor signaling pathway_Homo sapiens_hsa046622.80704177
3Osteoclast differentiation_Homo sapiens_hsa043802.73372316
4Staphylococcus aureus infection_Homo sapiens_hsa051502.61681498
5NF-kappa B signaling pathway_Homo sapiens_hsa040642.54305377
6Primary immunodeficiency_Homo sapiens_hsa053402.53400310
7Toll-like receptor signaling pathway_Homo sapiens_hsa046202.33008806
8Measles_Homo sapiens_hsa051622.21984165
9Glycosaminoglycan degradation_Homo sapiens_hsa005312.20519774
10Other glycan degradation_Homo sapiens_hsa005112.06417960
11Antigen processing and presentation_Homo sapiens_hsa046122.04675641
12Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.00152553
13Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.98854521
14Tuberculosis_Homo sapiens_hsa051521.96853370
15Pertussis_Homo sapiens_hsa051331.93711190
16Lysosome_Homo sapiens_hsa041421.93679790
17Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.92047964
18Intestinal immune network for IgA production_Homo sapiens_hsa046721.89688605
19NOD-like receptor signaling pathway_Homo sapiens_hsa046211.85456245
20Hematopoietic cell lineage_Homo sapiens_hsa046401.84870874
21RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.81672662
22Legionellosis_Homo sapiens_hsa051341.76258196
23Influenza A_Homo sapiens_hsa051641.66465253
24Toxoplasmosis_Homo sapiens_hsa051451.62416488
25Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.61394498
26Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.61267904
27Allograft rejection_Homo sapiens_hsa053301.60110376
28Graft-versus-host disease_Homo sapiens_hsa053321.58586293
29T cell receptor signaling pathway_Homo sapiens_hsa046601.57106992
30Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.56863397
31Malaria_Homo sapiens_hsa051441.55615665
32Herpes simplex infection_Homo sapiens_hsa051681.52570698
33Apoptosis_Homo sapiens_hsa042101.45907492
34Chemokine signaling pathway_Homo sapiens_hsa040621.45366441
35Jak-STAT signaling pathway_Homo sapiens_hsa046301.43830633
36Shigellosis_Homo sapiens_hsa051311.40747073
37TNF signaling pathway_Homo sapiens_hsa046681.40295082
38Hepatitis B_Homo sapiens_hsa051611.30636452
39Chronic myeloid leukemia_Homo sapiens_hsa052201.22062932
40Acute myeloid leukemia_Homo sapiens_hsa052211.22004316
41Salmonella infection_Homo sapiens_hsa051321.21356170
42Asthma_Homo sapiens_hsa053101.20330783
43Leukocyte transendothelial migration_Homo sapiens_hsa046701.18731497
44Rheumatoid arthritis_Homo sapiens_hsa053231.18163480
45Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.17642247
46Phagosome_Homo sapiens_hsa041451.15988256
47Viral myocarditis_Homo sapiens_hsa054161.07534224
48Pancreatic cancer_Homo sapiens_hsa052121.05723659
49Platelet activation_Homo sapiens_hsa046111.02574104
50Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.01293691
51Hepatitis C_Homo sapiens_hsa051600.96090848
52AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.92392768
53Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.91942294
54Epstein-Barr virus infection_Homo sapiens_hsa051690.89733161
55Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.89134775
56Caffeine metabolism_Homo sapiens_hsa002320.88385974
57Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.88283338
58Neurotrophin signaling pathway_Homo sapiens_hsa047220.87496262
59Transcriptional misregulation in cancer_Homo sapiens_hsa052020.82269236
60Viral carcinogenesis_Homo sapiens_hsa052030.74388808
61African trypanosomiasis_Homo sapiens_hsa051430.73878755
62Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.72984425
63Autoimmune thyroid disease_Homo sapiens_hsa053200.68877424
64Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.67538333
65Prolactin signaling pathway_Homo sapiens_hsa049170.67285123
66Non-small cell lung cancer_Homo sapiens_hsa052230.65236663
67Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.63925703
68Type I diabetes mellitus_Homo sapiens_hsa049400.63855022
69Small cell lung cancer_Homo sapiens_hsa052220.62809237
70Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.61698293
71HTLV-I infection_Homo sapiens_hsa051660.60981092
72Non-homologous end-joining_Homo sapiens_hsa034500.59395873
73VEGF signaling pathway_Homo sapiens_hsa043700.59382318
74Endocytosis_Homo sapiens_hsa041440.58243922
75Sphingolipid signaling pathway_Homo sapiens_hsa040710.55238730
76Dorso-ventral axis formation_Homo sapiens_hsa043200.54666113
77Base excision repair_Homo sapiens_hsa034100.52005269
78Notch signaling pathway_Homo sapiens_hsa043300.51501451
79DNA replication_Homo sapiens_hsa030300.50518395
80Colorectal cancer_Homo sapiens_hsa052100.50326687
81HIF-1 signaling pathway_Homo sapiens_hsa040660.49935526
82Amoebiasis_Homo sapiens_hsa051460.47960411
83Carbohydrate digestion and absorption_Homo sapiens_hsa049730.47946336
84Inositol phosphate metabolism_Homo sapiens_hsa005620.46215773
85Phosphatidylinositol signaling system_Homo sapiens_hsa040700.44592952
86GnRH signaling pathway_Homo sapiens_hsa049120.43927570
87SNARE interactions in vesicular transport_Homo sapiens_hsa041300.43711797
88Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.43520828
89* Regulation of actin cytoskeleton_Homo sapiens_hsa048100.43450178
90Complement and coagulation cascades_Homo sapiens_hsa046100.41717887
91Adipocytokine signaling pathway_Homo sapiens_hsa049200.39946043
92mTOR signaling pathway_Homo sapiens_hsa041500.39552215
93Insulin resistance_Homo sapiens_hsa049310.39150330
94Choline metabolism in cancer_Homo sapiens_hsa052310.38865162
95Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.38592079
96MicroRNAs in cancer_Homo sapiens_hsa052060.38226087
97Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.37682002
98Type II diabetes mellitus_Homo sapiens_hsa049300.35752737
99p53 signaling pathway_Homo sapiens_hsa041150.35032804
100FoxO signaling pathway_Homo sapiens_hsa040680.34539838
101Endometrial cancer_Homo sapiens_hsa052130.34340949
102Systemic lupus erythematosus_Homo sapiens_hsa053220.29606376
103ABC transporters_Homo sapiens_hsa020100.29515799
104Proteoglycans in cancer_Homo sapiens_hsa052050.29440749
105Renal cell carcinoma_Homo sapiens_hsa052110.28292672
106Renin-angiotensin system_Homo sapiens_hsa046140.27018548
107Phospholipase D signaling pathway_Homo sapiens_hsa040720.26941810
108MAPK signaling pathway_Homo sapiens_hsa040100.26785624
109Glycerophospholipid metabolism_Homo sapiens_hsa005640.25522612
110Prostate cancer_Homo sapiens_hsa052150.24171631
111Glioma_Homo sapiens_hsa052140.20978845
112ErbB signaling pathway_Homo sapiens_hsa040120.19993852
113Estrogen signaling pathway_Homo sapiens_hsa049150.18652253
114Collecting duct acid secretion_Homo sapiens_hsa049660.18609128

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