C21ORF2

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: Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. All isoforms contain leucine-rich repeats. Three of these isoforms are mitochondrial proteins and one of them lacks the target peptide, so is not located in mitochondrion. This gene is down-regulated in Down syndrome (DS) brain, which may represent mitochondrial dysfunction in DS patients. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1modulation by virus of host process (GO:0019054)6.25387616
2modulation by symbiont of host cellular process (GO:0044068)5.47533772
3adenosine receptor signaling pathway (GO:0001973)5.34147426
4cellular response to ATP (GO:0071318)4.80037314
5GDP-mannose metabolic process (GO:0019673)4.79796557
6poly(A)+ mRNA export from nucleus (GO:0016973)4.63775427
7mannose metabolic process (GO:0006013)4.57117436
8positive regulation of type I interferon-mediated signaling pathway (GO:0060340)4.40451088
9negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)4.32972897
10G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)4.19055822
11antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.99549384
12negative regulation of erythrocyte differentiation (GO:0045647)3.98539417
13neutrophil activation involved in immune response (GO:0002283)3.97645397
14tolerance induction (GO:0002507)3.82577478
15macrophage activation involved in immune response (GO:0002281)3.82118626
16positive regulation of protein kinase C signaling (GO:0090037)3.73718762
17peptidyl-glutamic acid carboxylation (GO:0017187)3.72760695
18protein carboxylation (GO:0018214)3.72760695
19CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)3.71739166
20regulation of synapse structural plasticity (GO:0051823)3.62705624
21negative regulation of cell killing (GO:0031342)3.60829369
22negative regulation of leukocyte mediated cytotoxicity (GO:0001911)3.60829369
23positive regulation of gamma-delta T cell activation (GO:0046645)3.60270685
24purinergic nucleotide receptor signaling pathway (GO:0035590)3.59319428
25negative regulation of viral release from host cell (GO:1902187)3.56859598
26G-protein coupled purinergic receptor signaling pathway (GO:0035588)3.44194309
27positive thymic T cell selection (GO:0045059)3.43713928
28regulation of type I interferon-mediated signaling pathway (GO:0060338)3.37406816
29mature B cell differentiation involved in immune response (GO:0002313)3.36980558
30positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.36712854
31antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.28439824
32UV protection (GO:0009650)3.26021877
33modulation by virus of host morphology or physiology (GO:0019048)3.24886526
34purinergic receptor signaling pathway (GO:0035587)3.24345852
35regulation of hydrogen peroxide metabolic process (GO:0010310)3.22088075
36regulation of cytokine production involved in inflammatory response (GO:1900015)3.16993451
37negative regulation of toll-like receptor signaling pathway (GO:0034122)3.15620433
38amyloid precursor protein catabolic process (GO:0042987)3.13934318
39regulation of skeletal muscle contraction (GO:0014819)3.10580043
40thymic T cell selection (GO:0045061)3.08488584
41antigen processing and presentation of endogenous antigen (GO:0019883)3.05732726
42negative regulation of granulocyte differentiation (GO:0030853)3.04518718
43positive regulation of Rap GTPase activity (GO:0032854)3.03694925
44antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)2.99245704
45response to ATP (GO:0033198)2.95601479
46positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.95330903
47regulation of gamma-delta T cell activation (GO:0046643)2.94182989
48regulation of gamma-delta T cell differentiation (GO:0045586)2.93318150
49semaphorin-plexin signaling pathway (GO:0071526)2.90435366
50regulation of ARF GTPase activity (GO:0032312)2.89224967
51regulation of translational fidelity (GO:0006450)2.87846382
52NIK/NF-kappaB signaling (GO:0038061)2.86994188
53response to muramyl dipeptide (GO:0032495)2.86010124
54negative regulation of viral entry into host cell (GO:0046597)2.84192456
55adenine nucleotide transport (GO:0051503)2.82446373
56sensory perception of taste (GO:0050909)2.79550936
57negative regulation of tumor necrosis factor production (GO:0032720)2.76889712
58regulation of viral release from host cell (GO:1902186)2.75617839
59response to peptidoglycan (GO:0032494)2.75469389
60negative regulation of cell aging (GO:0090344)2.71763630
61Arp2/3 complex-mediated actin nucleation (GO:0034314)2.71258099
62phosphatidylglycerol biosynthetic process (GO:0006655)2.70120968
63response to type I interferon (GO:0034340)2.68670316
64negative regulation of tumor necrosis factor superfamily cytokine production (GO:1903556)2.68325019
65leukocyte aggregation (GO:0070486)2.67781738
66peptidyl-tyrosine autophosphorylation (GO:0038083)2.65891982
67DNA strand renaturation (GO:0000733)2.64917351
68negative regulation of innate immune response (GO:0045824)2.63469238
69germinal center formation (GO:0002467)2.62864982
70type I interferon signaling pathway (GO:0060337)2.59902293
71cellular response to type I interferon (GO:0071357)2.59902293
72interferon-gamma production (GO:0032609)2.58596883
73positive T cell selection (GO:0043368)2.58509688
74cilium or flagellum-dependent cell motility (GO:0001539)2.57316573
75lens fiber cell differentiation (GO:0070306)2.55961502
76cellular response to virus (GO:0098586)2.52714357
77T cell selection (GO:0045058)2.51681971
78regulation of regulatory T cell differentiation (GO:0045589)2.49928757
79myeloid cell activation involved in immune response (GO:0002275)2.49867564
80defense response to protozoan (GO:0042832)2.49550203
81tumor necrosis factor-mediated signaling pathway (GO:0033209)2.49375488
82purine ribonucleotide transport (GO:0015868)2.49318104
83response to protozoan (GO:0001562)2.44342043
84retrograde transport, endosome to Golgi (GO:0042147)2.42980701
85mature B cell differentiation (GO:0002335)2.41364974
86regulation of interferon-beta biosynthetic process (GO:0045357)2.39164208
87activation of JUN kinase activity (GO:0007257)2.38848005
88negative regulation of interleukin-8 production (GO:0032717)2.38193376
89regulation of T-helper 2 cell differentiation (GO:0045628)2.37035984
90positive regulation of receptor recycling (GO:0001921)2.35915626
91B cell receptor signaling pathway (GO:0050853)2.32742228
92regulation of Rap GTPase activity (GO:0032317)2.32268942
93positive regulation of calcium-mediated signaling (GO:0050850)2.31593135
94protein insertion into membrane (GO:0051205)2.31585250
95regulation of ARF protein signal transduction (GO:0032012)2.31069783
96melanin biosynthetic process (GO:0042438)2.28557028
97melanin metabolic process (GO:0006582)2.28383473
98urinary tract smooth muscle contraction (GO:0014848)2.27669770
99activation of MAPKKK activity (GO:0000185)2.26963842
100regulation of toll-like receptor signaling pathway (GO:0034121)2.25680348

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* VDR_21846776_ChIP-Seq_THP-1_Human3.88684912
2LXR_22292898_ChIP-Seq_THP-1_Human3.33893982
3STAT6_21828071_ChIP-Seq_BEAS2B_Human2.80036054
4TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse2.68941575
5KDM2B_26808549_Chip-Seq_SUP-B15_Human2.59155293
6* P68_20966046_ChIP-Seq_HELA_Human2.51064067
7CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human2.42530034
8EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.37177079
9* KDM2B_26808549_Chip-Seq_DND41_Human2.33694205
10MYC_22102868_ChIP-Seq_BL_Human2.33458795
11KDM2B_26808549_Chip-Seq_SIL-ALL_Human2.30822385
12* VDR_24763502_ChIP-Seq_THP-1_Human2.28642841
13RARG_19884340_ChIP-ChIP_MEFs_Mouse2.28099741
14MAF_26560356_Chip-Seq_TH2_Human2.26196361
15ELK3_25401928_ChIP-Seq_HUVEC_Human2.17695197
16RACK7_27058665_Chip-Seq_MCF-7_Human2.16546843
17THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.13434242
18MAF_26560356_Chip-Seq_TH1_Human2.10172635
19BCL6_27268052_Chip-Seq_Bcells_Human2.04187620
20* E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human2.02875137
21TET1_21451524_ChIP-Seq_MESCs_Mouse2.00515957
22BCOR_27268052_Chip-Seq_Bcells_Human1.98899728
23TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.97160985
24TCF7_22412390_ChIP-Seq_EML_Mouse1.94253943
25ELF1_20517297_ChIP-Seq_JURKAT_Human1.88403483
26* SA1_27219007_Chip-Seq_ERYTHROID_Human1.88120880
27ERG_21242973_ChIP-ChIP_JURKAT_Human1.87768068
28SMC4_20622854_ChIP-Seq_HELA_Human1.85194528
29UTX_26944678_Chip-Seq_JUKART_Human1.84251402
30CTCF_27219007_Chip-Seq_ERYTHROID_Human1.81390743
31CTCF_27219007_Chip-Seq_Bcells_Human1.80854953
32MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.77393272
33SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.72681525
34SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.71562079
35* MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.68998442
36EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.68762076
37E2F1_20622854_ChIP-Seq_HELA_Human1.68340982
38IKZF1_21737484_ChIP-ChIP_HCT116_Human1.68203067
39SRY_22984422_ChIP-ChIP_TESTIS_Rat1.64894638
40ESR2_21235772_ChIP-Seq_MCF-7_Human1.61166795
41SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.60309876
42IRF8_22096565_ChIP-ChIP_GC-B_Human1.59538751
43KDM2B_26808549_Chip-Seq_K562_Human1.58792294
44DNAJC2_21179169_ChIP-ChIP_NT2_Human1.58740237
45* PHF8_20622854_ChIP-Seq_HELA_Human1.57977048
46NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.56327332
47PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.49645056
48RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.48961291
49KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.48439533
50RARB_24833708_ChIP-Seq_LIVER_Mouse1.47218697
51RUNX1_22412390_ChIP-Seq_EML_Mouse1.46520263
52PU.1_20513432_ChIP-Seq_Bcells_Mouse1.46436733
53CREB1_26743006_Chip-Seq_LNCaP_Human1.44746310
54KDM2B_26808549_Chip-Seq_JURKAT_Human1.42842142
55CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.42693034
56CTCF_21964334_ChIP-Seq_BJAB-B_Human1.41790430
57SA1_27219007_Chip-Seq_Bcells_Human1.40301541
58DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.39437538
59CTCF_21964334_Chip-Seq_Bcells_Human1.38197599
60TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.37432478
61ETS1_21867929_ChIP-Seq_TH2_Mouse1.33621469
62CTCF_26484167_Chip-Seq_Bcells_Mouse1.33173511
63UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.30459471
64CTCF_20526341_ChIP-Seq_ESCs_Human1.28651287
65RARA_24833708_ChIP-Seq_LIVER_Mouse1.27345167
66SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.26803182
67TP53_22127205_ChIP-Seq_IMR90_Human1.26646466
68TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.25856296
69PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.25651760
70PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.23499220
71FOXP1_21924763_ChIP-Seq_HESCs_Human1.22569792
72CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.22409962
73NCOR1_26117541_ChIP-Seq_K562_Human1.21962601
74TP63_22573176_ChIP-Seq_HFKS_Human1.21556510
75RUNX1_27514584_Chip-Seq_MCF-7_Human1.19915451
76ZFP281_18757296_ChIP-ChIP_E14_Mouse1.19658120
77YY1_22570637_ChIP-Seq_MALME-3M_Human1.19112209
78MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.16940415
79CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.15398367
80EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.15320126
81SREBP2_21459322_ChIP-Seq_LIVER_Mouse1.13777492
82MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.13218192
83DROSHA_22980978_ChIP-Seq_HELA_Human1.12670133
84JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse1.12378486
85STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.11389525
86BRD4_27068464_Chip-Seq_AML-cells_Mouse1.10820056
87PPARA_22158963_ChIP-Seq_LIVER_Mouse1.10520629
88VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.09576459
89TFAP2A_17053090_ChIP-ChIP_MCF-7_Human1.09508488
90RXRA_24833708_ChIP-Seq_LIVER_Mouse1.09373267
91GATA1_22383799_ChIP-Seq_G1ME_Mouse1.08752270
92RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.08708667
93PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.08333558
94SMC3_22415368_ChIP-Seq_MEFs_Mouse1.07865271
95TP63_17297297_ChIP-ChIP_HaCaT_Human1.07227178
96GATA1_19941827_ChIP-Seq_MEL_Mouse1.05748780
97OCT4_19829295_ChIP-Seq_ESCs_Human1.05104673
98FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.04915410
99CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.03617226
100SETDB1_19884255_ChIP-Seq_MESCs_Mouse1.03053697

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005171_absent_coat_pigmentation4.54169136
2MP0001986_abnormal_taste_sensitivity3.86484978
3MP0005174_abnormal_tail_pigmentation3.57452591
4MP0005058_abnormal_lysosome_morphology3.55562680
5MP0005423_abnormal_somatic_nervous3.22431057
6MP0003436_decreased_susceptibility_to3.03948424
7MP0005409_darkened_coat_color2.68593605
8MP0003136_yellow_coat_color2.66769761
9MP0004381_abnormal_hair_follicle2.58173318
10MP0003303_peritoneal_inflammation2.57504521
11MP0003172_abnormal_lysosome_physiology2.44922503
12MP0009840_abnormal_foam_cell1.99361112
13MP0003705_abnormal_hypodermis_morpholog1.96290311
14MP0003329_amyloid_beta_deposits1.94040204
15MP0009278_abnormal_bone_marrow1.86058336
16MP0003763_abnormal_thymus_physiology1.80953663
17MP0005025_abnormal_response_to1.78277373
18MP0001835_abnormal_antigen_presentation1.76882035
19MP0001790_abnormal_immune_system1.70638005
20MP0005387_immune_system_phenotype1.70638005
21MP0000015_abnormal_ear_pigmentation1.67750189
22MP0000604_amyloidosis1.67563361
23MP0005000_abnormal_immune_tolerance1.65274379
24MP0001502_abnormal_circadian_rhythm1.64912455
25MP0003453_abnormal_keratinocyte_physiol1.64724576
26MP0002419_abnormal_innate_immunity1.57367302
27MP0002723_abnormal_immune_serum1.55502684
28MP0001800_abnormal_humoral_immune1.54538692
29MP0000751_myopathy1.53868364
30MP0002254_reproductive_system_inflammat1.51900180
31MP0004858_abnormal_nervous_system1.51317693
32MP0002653_abnormal_ependyma_morphology1.50880470
33MP0002452_abnormal_antigen_presenting1.48417293
34MP0002148_abnormal_hypersensitivity_rea1.46827934
35MP0002420_abnormal_adaptive_immunity1.43201735
36MP0001819_abnormal_immune_cell1.42331771
37MP0004947_skin_inflammation1.42325417
38MP0001873_stomach_inflammation1.41923416
39MP0000685_abnormal_immune_system1.38812215
40MP0001958_emphysema1.38567406
41MP0006054_spinal_hemorrhage1.37564974
42MP0001188_hyperpigmentation1.35046571
43MP0005083_abnormal_biliary_tract1.31865285
44MP0003300_gastrointestinal_ulcer1.31507066
45MP0000750_abnormal_muscle_regeneration1.31498854
46MP0005671_abnormal_response_to1.31484476
47MP0001968_abnormal_touch/_nociception1.29186239
48MP0001756_abnormal_urination1.22093664
49MP0002933_joint_inflammation1.21205689
50MP0004130_abnormal_muscle_cell1.18816178
51MP0000858_altered_metastatic_potential1.18140629
52MP0002398_abnormal_bone_marrow1.17450215
53MP0006082_CNS_inflammation1.17258609
54MP0010155_abnormal_intestine_physiology1.16291039
55MP0005076_abnormal_cell_differentiation1.16244197
56MP0009333_abnormal_splenocyte_physiolog1.16083424
57MP0001348_abnormal_lacrimal_gland1.15806711
58MP0000716_abnormal_immune_system1.15089679
59MP0001533_abnormal_skeleton_physiology1.10330345
60MP0003279_aneurysm1.10253453
61MP0002089_abnormal_postnatal_growth/wei1.09049174
62MP0003724_increased_susceptibility_to1.08404343
63MP0000538_abnormal_urinary_bladder1.07923658
64MP0001849_ear_inflammation1.07756881
65MP0008875_abnormal_xenobiotic_pharmacok1.07542065
66MP0002998_abnormal_bone_remodeling1.04628206
67MP0003091_abnormal_cell_migration1.03956378
68MP0009785_altered_susceptibility_to1.01569033
69MP0001845_abnormal_inflammatory_respons1.00954537
70MP0008260_abnormal_autophagy0.99093011
71MP0002405_respiratory_system_inflammati0.98303855
72MP0002429_abnormal_blood_cell0.96177105
73MP0000003_abnormal_adipose_tissue0.96118108
74MP0000747_muscle_weakness0.95989678
75MP0001765_abnormal_ion_homeostasis0.93619927
76MP0002138_abnormal_hepatobiliary_system0.91690921
77MP0004510_myositis0.90785872
78MP0005330_cardiomyopathy0.90625322
79MP0002722_abnormal_immune_system0.88573903
80MP0008874_decreased_physiological_sensi0.87895496
81MP0000703_abnormal_thymus_morphology0.87748823
82MP0008469_abnormal_protein_level0.83081634
83MP0000689_abnormal_spleen_morphology0.82917653
84MP0003879_abnormal_hair_cell0.82530598
85MP0003448_altered_tumor_morphology0.82339023
86MP0002249_abnormal_larynx_morphology0.79304716
87MP0005464_abnormal_platelet_physiology0.76657347
88MP0000678_abnormal_parathyroid_gland0.76034085
89MP0003191_abnormal_cellular_cholesterol0.75407277
90MP0003866_abnormal_defecation0.74401550
91MP0005166_decreased_susceptibility_to0.74096671
92MP0004859_abnormal_synaptic_plasticity0.73913585
93MP0003075_altered_response_to0.73430126
94MP0001664_abnormal_digestion0.73006257
95MP0005451_abnormal_body_composition0.72049873
96MP0000367_abnormal_coat/_hair0.71262333
97MP0005375_adipose_tissue_phenotype0.71180421
98MP0003806_abnormal_nucleotide_metabolis0.70179322
99MP0005584_abnormal_enzyme/coenzyme_acti0.69458159
100MP0000013_abnormal_adipose_tissue0.69305190

Predicted human phenotypes

RankGene SetZ-score
1Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)5.11348951
2Thin bony cortex (HP:0002753)5.06700263
3Annular pancreas (HP:0001734)5.02908106
4Rib fusion (HP:0000902)4.41506169
5Testicular atrophy (HP:0000029)4.37774467
6Axonal loss (HP:0003447)3.92907172
7Ulnar bowing (HP:0003031)3.84418089
8Hemorrhage of the eye (HP:0011885)3.84414815
9Turricephaly (HP:0000262)3.73627511
10Mesangial abnormality (HP:0001966)3.57075534
11Progressive external ophthalmoplegia (HP:0000590)3.12182838
12Agnosia (HP:0010524)3.11577353
13Joint stiffness (HP:0001387)3.07056102
14Intestinal fistula (HP:0100819)3.05160779
15Vaginal fistula (HP:0004320)3.04036741
16Rectovaginal fistula (HP:0000143)2.97636513
17Rectal fistula (HP:0100590)2.97636513
18Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.86667087
19Dysostosis multiplex (HP:0000943)2.86412517
20Eczematoid dermatitis (HP:0000976)2.84855465
21Poikiloderma (HP:0001029)2.80402948
22Abnormality of polysaccharide metabolism (HP:0011012)2.73994206
23Abnormality of glycosaminoglycan metabolism (HP:0004371)2.73994206
24Abnormality of mucopolysaccharide metabolism (HP:0011020)2.73994206
25Akinesia (HP:0002304)2.73002580
26Nasal polyposis (HP:0100582)2.71494052
27Mask-like facies (HP:0000298)2.70239105
28Neurofibrillary tangles (HP:0002185)2.69409986
29Delayed epiphyseal ossification (HP:0002663)2.68511322
30Disinhibition (HP:0000734)2.68475254
31Facial hemangioma (HP:0000329)2.68178475
32Recurrent bacterial skin infections (HP:0005406)2.66509931
33Joint hemorrhage (HP:0005261)2.65953945
34Abnormality of the nasal mucosa (HP:0000433)2.65071563
35Urinary glycosaminoglycan excretion (HP:0003541)2.60012274
36Mucopolysacchariduria (HP:0008155)2.60012274
37Anteriorly placed anus (HP:0001545)2.55730516
38Recurrent abscess formation (HP:0002722)2.55121751
39Abnormality of the costochondral junction (HP:0000919)2.54437656
40Personality changes (HP:0000751)2.52824997
41Gastrointestinal infarctions (HP:0005244)2.52280990
42Upper motor neuron abnormality (HP:0002127)2.46178208
43Elevated erythrocyte sedimentation rate (HP:0003565)2.40406248
44Fetal akinesia sequence (HP:0001989)2.37301126
45Dyschromatopsia (HP:0007641)2.36816448
46Bowing of the arm (HP:0006488)2.35496103
47Bowed forearm bones (HP:0003956)2.35496103
48Facial diplegia (HP:0001349)2.25442455
49Colitis (HP:0002583)2.24438052
50Squamous cell carcinoma (HP:0002860)2.20872452
51Attenuation of retinal blood vessels (HP:0007843)2.20582190
52Emphysema (HP:0002097)2.20274950
53Pustule (HP:0200039)2.18642703
54Coronal craniosynostosis (HP:0004440)2.18581461
55Enlarged epiphyses (HP:0010580)2.17728340
56Increased IgE level (HP:0003212)2.16243080
57Obstructive sleep apnea (HP:0002870)2.14303026
58Myopathic facies (HP:0002058)2.14004647
59Easy fatigability (HP:0003388)2.13910977
60Neuronal loss in central nervous system (HP:0002529)2.13645361
61Popliteal pterygium (HP:0009756)2.12041194
62Aplasia of the musculature (HP:0100854)2.10305457
63Increased cerebral lipofuscin (HP:0011813)2.09560312
64Recurrent fungal infections (HP:0002841)2.04426387
65Widely patent fontanelles and sutures (HP:0004492)2.04172189
66Choanal stenosis (HP:0000452)2.03016163
67External ophthalmoplegia (HP:0000544)2.02272398
68Basal cell carcinoma (HP:0002671)2.02176610
69Basal ganglia calcification (HP:0002135)2.00717363
70Systemic lupus erythematosus (HP:0002725)2.00064627
71Male infertility (HP:0003251)1.98187052
72Broad face (HP:0000283)1.96373497
73Abnormality of macrophages (HP:0004311)1.93420614
74Cerebral inclusion bodies (HP:0100314)1.92797976
75Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)1.91793985
76Abnormality of glycolipid metabolism (HP:0010969)1.91781900
77Abnormality of liposaccharide metabolism (HP:0010968)1.91781900
78Abnormality of glycosphingolipid metabolism (HP:0004343)1.91781900
79Increased neuronal autofluorescent lipopigment (HP:0002074)1.91683960
80Rapidly progressive (HP:0003678)1.90896832
81Mediastinal lymphadenopathy (HP:0100721)1.90364718
82Gastrointestinal inflammation (HP:0004386)1.88938655
83Short chin (HP:0000331)1.88306761
84Gastrointestinal stroma tumor (HP:0100723)1.88027520
85Atrioventricular block (HP:0001678)1.87676742
86Hypertriglyceridemia (HP:0002155)1.86782064
87Abnormality of the intrinsic pathway (HP:0010989)1.86287662
88Myositis (HP:0100614)1.83926412
89Ocular albinism (HP:0001107)1.83585276
90Recurrent skin infections (HP:0001581)1.83329956
91Neonatal onset (HP:0003623)1.82526095
92Cervical subluxation (HP:0003308)1.81517359
93Meningitis (HP:0001287)1.80762203
94Stridor (HP:0010307)1.80499953
95Thin ribs (HP:0000883)1.79384520
96Malnutrition (HP:0004395)1.77320240
97Inflammation of the large intestine (HP:0002037)1.74853572
98Recurrent sinusitis (HP:0011108)1.74030319
99Narrow nasal bridge (HP:0000446)1.72720865
100Purpura (HP:0000979)1.72574252

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAPK154.90071446
2TRIB33.82831404
3MAP4K12.75798459
4ERN12.69582274
5SIK12.35885634
6PRPF4B2.25624398
7BLK2.19718737
8GRK61.96802050
9EEF2K1.93188800
10SIK21.78910705
11MAP3K131.78112033
12TBK11.77450523
13TESK21.74964600
14MAP2K31.58805976
15RIPK41.58026217
16ICK1.57144435
17CSK1.53968004
18SMG11.53783868
19ZAP701.52287494
20ARAF1.50864127
21MAP3K111.47700806
22TNK21.43982889
23MAPK121.38370427
24MARK21.37401665
25MAP3K11.37172004
26PRKD21.36333132
27FGFR41.32904363
28PKN21.24303217
29NME21.23394176
30MUSK1.21363623
31RIPK11.18439625
32PDPK11.16363760
33TYK21.14432846
34CDC42BPA1.13239412
35SYK1.10813247
36BCKDK1.10720546
37MAP2K61.07377202
38IKBKE1.05070956
39MAPK111.05064384
40IRAK31.01780447
41RPS6KA21.01249486
42IRAK41.00577264
43SCYL20.95953450
44EPHB10.95371816
45IRAK20.93540916
46CAMKK10.92264947
47BTK0.91040993
48PRKD30.89359789
49DAPK20.85915898
50HIPK20.80860297
51MAP3K30.80410012
52TLK10.80122675
53FES0.78141881
54RPS6KC10.77395888
55RPS6KL10.77395888
56CDK40.76883831
57WNK40.75237135
58DYRK1B0.74852166
59JAK30.72370353
60MAPK70.72109914
61BMX0.71287691
62HCK0.70517776
63TAOK10.70324647
64RPS6KA60.66769500
65KSR20.66509594
66MARK30.66105129
67PDK10.64658574
68LCK0.64551576
69TAOK20.64502902
70KIT0.63138055
71SIK30.63052260
72MAP3K140.62627285
73TXK0.61144650
74IKBKB0.59663691
75SGK2230.58821190
76SGK4940.58821190
77TYRO30.58349011
78MAPKAPK30.57716678
79PTK60.53728542
80MAP2K20.52924415
81PRKD10.52381307
82PRKCH0.52340822
83PIM20.52041070
84JAK10.51206227
85MAP3K100.50864489
86MTOR0.50527636
87MOS0.50394234
88TTN0.49674486
89LYN0.48083484
90CDK11A0.45692423
91CDK150.43963410
92ITK0.43609705
93SGK30.43102689
94RET0.42937075
95TESK10.42309200
96MAP3K70.41670482
97MAP3K90.41553270
98PRKCQ0.37229797
99MAPK80.34398007
100CDK180.34393283

Predicted pathways (KEGG)

RankGene SetZ-score
1Sulfur relay system_Homo sapiens_hsa041224.13456457
2Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006043.93952608
3Other glycan degradation_Homo sapiens_hsa005113.04481867
4Glycosaminoglycan degradation_Homo sapiens_hsa005312.81914465
5Fructose and mannose metabolism_Homo sapiens_hsa000511.93683745
6Primary immunodeficiency_Homo sapiens_hsa053401.91460521
7Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.78514639
8Osteoclast differentiation_Homo sapiens_hsa043801.75546414
9Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.62969941
10Notch signaling pathway_Homo sapiens_hsa043301.60841218
11B cell receptor signaling pathway_Homo sapiens_hsa046621.57585371
12Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.56557319
13Lysosome_Homo sapiens_hsa041421.54083802
14VEGF signaling pathway_Homo sapiens_hsa043701.50625242
15alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.47736348
16Acute myeloid leukemia_Homo sapiens_hsa052211.47380772
17Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.42754815
18Allograft rejection_Homo sapiens_hsa053301.39193430
19Intestinal immune network for IgA production_Homo sapiens_hsa046721.38866110
20Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.38742731
21T cell receptor signaling pathway_Homo sapiens_hsa046601.35905884
22Graft-versus-host disease_Homo sapiens_hsa053321.33071185
23Autoimmune thyroid disease_Homo sapiens_hsa053201.32392212
24Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.31383908
25Toll-like receptor signaling pathway_Homo sapiens_hsa046201.28871018
26Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.28010445
27Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.25288495
28Neurotrophin signaling pathway_Homo sapiens_hsa047221.22100468
29Glycerophospholipid metabolism_Homo sapiens_hsa005641.16883865
30Hepatitis C_Homo sapiens_hsa051601.15008041
31NF-kappa B signaling pathway_Homo sapiens_hsa040641.11169662
32Leishmaniasis_Homo sapiens_hsa051401.06176074
33Sphingolipid metabolism_Homo sapiens_hsa006001.05373990
34Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.04652798
35Staphylococcus aureus infection_Homo sapiens_hsa051501.04169797
36RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.02070177
37Tuberculosis_Homo sapiens_hsa051521.01622938
38Linoleic acid metabolism_Homo sapiens_hsa005910.98722961
39Carbohydrate digestion and absorption_Homo sapiens_hsa049730.98617550
40TNF signaling pathway_Homo sapiens_hsa046680.98392243
41Leukocyte transendothelial migration_Homo sapiens_hsa046700.97987373
42Influenza A_Homo sapiens_hsa051640.94224078
43Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.93231334
44GnRH signaling pathway_Homo sapiens_hsa049120.87553968
45Non-small cell lung cancer_Homo sapiens_hsa052230.86835931
46Hematopoietic cell lineage_Homo sapiens_hsa046400.86622988
47Endocytosis_Homo sapiens_hsa041440.86586016
48Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.86422076
49Phospholipase D signaling pathway_Homo sapiens_hsa040720.83742531
50Cyanoamino acid metabolism_Homo sapiens_hsa004600.81180521
51mTOR signaling pathway_Homo sapiens_hsa041500.77050276
52Inositol phosphate metabolism_Homo sapiens_hsa005620.76759262
53Type I diabetes mellitus_Homo sapiens_hsa049400.76326397
54Toxoplasmosis_Homo sapiens_hsa051450.75612997
55Bladder cancer_Homo sapiens_hsa052190.74887465
56Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.74528399
57Dorso-ventral axis formation_Homo sapiens_hsa043200.74074331
58Adipocytokine signaling pathway_Homo sapiens_hsa049200.71590498
59Insulin resistance_Homo sapiens_hsa049310.71530553
60Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.70921554
61Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.70668115
62Viral myocarditis_Homo sapiens_hsa054160.66166223
63Chemokine signaling pathway_Homo sapiens_hsa040620.65842047
64Pertussis_Homo sapiens_hsa051330.65576163
65Phosphatidylinositol signaling system_Homo sapiens_hsa040700.63399726
66Hepatitis B_Homo sapiens_hsa051610.63323581
67Choline metabolism in cancer_Homo sapiens_hsa052310.62811889
68Apoptosis_Homo sapiens_hsa042100.62739730
69MAPK signaling pathway_Homo sapiens_hsa040100.61087907
70Herpes simplex infection_Homo sapiens_hsa051680.61034343
71AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.60071258
72Malaria_Homo sapiens_hsa051440.58876146
73Chronic myeloid leukemia_Homo sapiens_hsa052200.58170341
74Antigen processing and presentation_Homo sapiens_hsa046120.54910778
75Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.54019974
76Jak-STAT signaling pathway_Homo sapiens_hsa046300.53437326
77Cocaine addiction_Homo sapiens_hsa050300.53069156
78Measles_Homo sapiens_hsa051620.52822923
79Longevity regulating pathway - mammal_Homo sapiens_hsa042110.52499751
80Circadian rhythm_Homo sapiens_hsa047100.50444717
81Sphingolipid signaling pathway_Homo sapiens_hsa040710.49531763
82HTLV-I infection_Homo sapiens_hsa051660.49070150
83Endometrial cancer_Homo sapiens_hsa052130.49044740
84Arachidonic acid metabolism_Homo sapiens_hsa005900.46548416
85Prion diseases_Homo sapiens_hsa050200.46326523
86Ether lipid metabolism_Homo sapiens_hsa005650.45528603
87Aldosterone synthesis and secretion_Homo sapiens_hsa049250.45478545
88Melanogenesis_Homo sapiens_hsa049160.44314353
89Prolactin signaling pathway_Homo sapiens_hsa049170.43417299
90Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.43321984
91Asthma_Homo sapiens_hsa053100.42954505
92Long-term potentiation_Homo sapiens_hsa047200.42928066
93Insulin signaling pathway_Homo sapiens_hsa049100.42620157
94NOD-like receptor signaling pathway_Homo sapiens_hsa046210.41222392
95Calcium signaling pathway_Homo sapiens_hsa040200.39889014
96Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.37964814
97PPAR signaling pathway_Homo sapiens_hsa033200.37257711
98ErbB signaling pathway_Homo sapiens_hsa040120.34160261
99Cholinergic synapse_Homo sapiens_hsa047250.32979353
100Estrogen signaling pathway_Homo sapiens_hsa049150.32766636

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