C9ORF142

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 plays a role in the nonhomologous end joining (NHEJ) pathway of DNA double-strand break repair. The encoded protein may function to stabilize the Ku70/Ku80 heterodimer to facilitate the assembly and maintain the stability of the NHEJ complex. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1deoxyribonucleoside monophosphate metabolic process (GO:0009162)5.73289245
2pyrimidine deoxyribonucleotide catabolic process (GO:0009223)4.48909474
3viral transcription (GO:0019083)4.41993367
4ribosomal small subunit assembly (GO:0000028)4.30047179
5GDP-mannose metabolic process (GO:0019673)4.21947793
6ribosomal small subunit biogenesis (GO:0042274)4.05852080
7purine deoxyribonucleotide catabolic process (GO:0009155)4.00273077
8base-excision repair, AP site formation (GO:0006285)3.99728122
9translational termination (GO:0006415)3.97952273
10deoxyribonucleotide catabolic process (GO:0009264)3.92482451
11pyrimidine nucleotide catabolic process (GO:0006244)3.81666609
12Arp2/3 complex-mediated actin nucleation (GO:0034314)3.81630581
13translational elongation (GO:0006414)3.79938959
14pyrimidine deoxyribonucleotide metabolic process (GO:0009219)3.79759295
15deoxyribose phosphate catabolic process (GO:0046386)3.76267670
16metallo-sulfur cluster assembly (GO:0031163)3.73388581
17iron-sulfur cluster assembly (GO:0016226)3.73388581
18negative regulation of cell killing (GO:0031342)3.69402649
19negative regulation of leukocyte mediated cytotoxicity (GO:0001911)3.69402649
202-deoxyribonucleotide biosynthetic process (GO:0009265)3.63336793
21deoxyribose phosphate biosynthetic process (GO:0046385)3.63336793
22DNA deamination (GO:0045006)3.55605307
232-deoxyribonucleotide metabolic process (GO:0009394)3.50263039
24SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.48085514
25protein targeting to ER (GO:0045047)3.39826340
26antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.38174665
27deoxyribonucleoside triphosphate metabolic process (GO:0009200)3.36473082
28viral life cycle (GO:0019058)3.36426045
29cotranslational protein targeting to membrane (GO:0006613)3.36216754
30guanosine-containing compound biosynthetic process (GO:1901070)3.35055534
31antigen processing and presentation of endogenous antigen (GO:0019883)3.34015801
32energy coupled proton transport, down electrochemical gradient (GO:0015985)3.29635029
33ATP synthesis coupled proton transport (GO:0015986)3.29635029
34protein localization to endoplasmic reticulum (GO:0070972)3.28615387
35antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.27827484
36positive regulation of gamma-delta T cell activation (GO:0046645)3.26870466
37purine deoxyribonucleotide metabolic process (GO:0009151)3.26297331
38deoxyribose phosphate metabolic process (GO:0019692)3.26225174
39cellular protein complex disassembly (GO:0043624)3.25572063
40mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.23159038
41establishment of protein localization to endoplasmic reticulum (GO:0072599)3.18935672
42negative regulation of B cell apoptotic process (GO:0002903)3.16902176
43positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.16082728
44leukocyte aggregation (GO:0070486)3.12648717
45nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.07801017
46purine deoxyribonucleoside triphosphate metabolic process (GO:0009215)3.05033501
47negative T cell selection (GO:0043383)3.00775895
48GTP biosynthetic process (GO:0006183)3.00176658
49negative regulation of myeloid cell apoptotic process (GO:0033033)2.97432671
50protein maturation by protein folding (GO:0022417)2.96912076
51UTP biosynthetic process (GO:0006228)2.96759741
52negative regulation of DNA-templated transcription, elongation (GO:0032785)2.96081451
53actin nucleation (GO:0045010)2.95691788
54protein complex disassembly (GO:0043241)2.92894101
55respiratory electron transport chain (GO:0022904)2.92786736
56thymic T cell selection (GO:0045061)2.90552594
57NIK/NF-kappaB signaling (GO:0038061)2.89802457
58positive thymic T cell selection (GO:0045059)2.89505771
59immunoglobulin mediated immune response (GO:0016064)2.89392375
60negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)2.88660751
61pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)2.86549213
62electron transport chain (GO:0022900)2.85794509
63antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)2.85388655
64pyrimidine nucleoside triphosphate metabolic process (GO:0009147)2.83904853
65negative thymic T cell selection (GO:0045060)2.81615556
66deoxyribonucleotide metabolic process (GO:0009262)2.81190233
67regulation of defense response to virus by virus (GO:0050690)2.75206084
68macromolecular complex disassembly (GO:0032984)2.74687156
69translational initiation (GO:0006413)2.71932723
70mitochondrial electron transport, NADH to ubiquinone (GO:0006120)2.71561182
71oxidative phosphorylation (GO:0006119)2.69886361
72regulation of gamma-delta T cell differentiation (GO:0045586)2.66555607
73telomere maintenance via semi-conservative replication (GO:0032201)2.64716518
74peptidyl-arginine omega-N-methylation (GO:0035247)2.63921742
75maturation of SSU-rRNA (GO:0030490)2.62032188
76negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)2.61583025
77pentose metabolic process (GO:0019321)2.60212089
78regulation of mitochondrial translation (GO:0070129)2.57389449
79nucleotide salvage (GO:0043173)2.57008904
80respiratory burst (GO:0045730)2.56354617
81protein targeting to mitochondrion (GO:0006626)2.55773957
82UTP metabolic process (GO:0046051)2.55753440
83pyrimidine ribonucleoside triphosphate biosynthetic process (GO:0009209)2.54176245
84CTP biosynthetic process (GO:0006241)2.54083275
85CTP metabolic process (GO:0046036)2.54083275
86antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:2.53794419
87pseudouridine synthesis (GO:0001522)2.53225464
88mitochondrial calcium ion transport (GO:0006851)2.52401231
89protein complex biogenesis (GO:0070271)2.52209383
90ncRNA 3-end processing (GO:0043628)2.51540756
91positive regulation of type I interferon-mediated signaling pathway (GO:0060340)2.51286816
92T cell selection (GO:0045058)2.51107367
93translation (GO:0006412)2.51049850
94RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.46399172
95tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.46399172
96chaperone-mediated protein transport (GO:0072321)2.46337973
97antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)2.46221942
98positive regulation of release of cytochrome c from mitochondria (GO:0090200)2.45393469
99regulation of gamma-delta T cell activation (GO:0046643)2.45271262
100pyrimidine nucleoside salvage (GO:0043097)2.44274603

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat3.00033906
2EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.98156063
3HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.83017238
4VDR_21846776_ChIP-Seq_THP-1_Human2.69898666
5JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.67591738
6ELF1_17652178_ChIP-ChIP_JURKAT_Human2.59651336
7MYC_18358816_ChIP-ChIP_MESCs_Mouse2.26516223
8E2F7_22180533_ChIP-Seq_HELA_Human2.23851825
9NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.17916981
10MYC_18555785_ChIP-Seq_MESCs_Mouse2.16430465
11TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse2.13328171
12SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.10661061
13MYC_22102868_ChIP-Seq_BL_Human2.04758695
14LXR_22292898_ChIP-Seq_THP-1_Human2.03412392
15ETS1_20019798_ChIP-Seq_JURKAT_Human2.02947639
16XRN2_22483619_ChIP-Seq_HELA_Human1.97537060
17CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.91292419
18FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.86336680
19SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.86060615
20THAP11_20581084_ChIP-Seq_MESCs_Mouse1.83870848
21TET1_21451524_ChIP-Seq_MESCs_Mouse1.78739314
22SRY_22984422_ChIP-ChIP_TESTIS_Rat1.76450264
23PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.73984910
24SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.73836278
25P68_20966046_ChIP-Seq_HELA_Human1.73665128
26TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.73343883
27KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.71251507
28GABP_19822575_ChIP-Seq_HepG2_Human1.70812760
29ELF1_20517297_ChIP-Seq_JURKAT_Human1.70380433
30BCL6_27268052_Chip-Seq_Bcells_Human1.69888106
31RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.69113069
32MAF_26560356_Chip-Seq_TH2_Human1.68845810
33CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.66916008
34PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.65846565
35CIITA_25753668_ChIP-Seq_RAJI_Human1.64403213
36YY1_21170310_ChIP-Seq_MESCs_Mouse1.63440022
37BP1_19119308_ChIP-ChIP_Hs578T_Human1.61610165
38UTX_26944678_Chip-Seq_JUKART_Human1.61436175
39DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.59174886
40GABP_17652178_ChIP-ChIP_JURKAT_Human1.59068727
41CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.56932740
42MAF_26560356_Chip-Seq_TH1_Human1.56928874
43NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.56560947
44ELK3_25401928_ChIP-Seq_HUVEC_Human1.53712647
45MYC_19030024_ChIP-ChIP_MESCs_Mouse1.53428013
46CREB1_15753290_ChIP-ChIP_HEK293T_Human1.50464056
47KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.48581211
48MYC_19079543_ChIP-ChIP_MESCs_Mouse1.46822288
49SA1_27219007_Chip-Seq_ERYTHROID_Human1.45498235
50BCOR_27268052_Chip-Seq_Bcells_Human1.43066568
51CTCF_26484167_Chip-Seq_Bcells_Mouse1.41731636
52CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.41012920
53DCP1A_22483619_ChIP-Seq_HELA_Human1.38216009
54THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.37317526
55EST1_17652178_ChIP-ChIP_JURKAT_Human1.35822491
56MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.35504727
57FOXP3_21729870_ChIP-Seq_TREG_Human1.34724639
58KDM5A_27292631_Chip-Seq_BREAST_Human1.33694667
59VDR_24763502_ChIP-Seq_THP-1_Human1.32256086
60CTCF_18555785_ChIP-Seq_MESCs_Mouse1.32209798
61E2F1_18555785_ChIP-Seq_MESCs_Mouse1.31190826
62PHF8_20622854_ChIP-Seq_HELA_Human1.30567206
63MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.29971046
64SRF_21415370_ChIP-Seq_HL-1_Mouse1.29726424
65BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.29118976
66SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.28993982
67RACK7_27058665_Chip-Seq_MCF-7_Human1.28358468
68NELFA_20434984_ChIP-Seq_ESCs_Mouse1.27928050
69E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.27565519
70CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.27181991
71SPI1_23547873_ChIP-Seq_NB4_Human1.26748330
72STAT4_19710469_ChIP-ChIP_TH1__Mouse1.26070347
73E2F1_20622854_ChIP-Seq_HELA_Human1.25611508
74SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.25378587
75VDR_23849224_ChIP-Seq_CD4+_Human1.25358685
76ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.25191924
77KDM2B_26808549_Chip-Seq_SUP-B15_Human1.25027493
78SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.24548366
79CTCF_27219007_Chip-Seq_ERYTHROID_Human1.24306477
80FOXP1_21924763_ChIP-Seq_HESCs_Human1.22387163
81KDM2B_26808549_Chip-Seq_DND41_Human1.22358054
82PU.1_20513432_ChIP-Seq_Bcells_Mouse1.22225788
83YY1_22570637_ChIP-Seq_MALME-3M_Human1.20736899
84EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.19189702
85TTF2_22483619_ChIP-Seq_HELA_Human1.18727505
86MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.18590371
87IRF8_22096565_ChIP-ChIP_GC-B_Human1.17434697
88RUNX1_22412390_ChIP-Seq_EML_Mouse1.16609966
89SREBP2_21459322_ChIP-Seq_LIVER_Mouse1.15066750
90KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.14620288
91SA1_27219007_Chip-Seq_Bcells_Human1.13630568
92FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.12421188
93SMC4_20622854_ChIP-Seq_HELA_Human1.10387377
94CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.08738417
95POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.08464452
96PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.08394554
97SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.08107570
98CTCF_20526341_ChIP-Seq_ESCs_Human1.08005511
99ZFX_18555785_ChIP-Seq_MESCs_Mouse1.07852216
100ETS1_21867929_ChIP-Seq_TH2_Mouse1.07431921

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005671_abnormal_response_to3.56313927
2MP0009333_abnormal_splenocyte_physiolog3.20197236
3MP0003763_abnormal_thymus_physiology3.02233522
4MP0003436_decreased_susceptibility_to2.88007464
5MP0001835_abnormal_antigen_presentation2.82442383
6MP0001873_stomach_inflammation2.58711365
7MP0005025_abnormal_response_to2.58319493
8MP0006082_CNS_inflammation2.52381944
9MP0005000_abnormal_immune_tolerance2.46220465
10MP0002420_abnormal_adaptive_immunity2.29140447
11MP0001819_abnormal_immune_cell2.26927432
12MP0008260_abnormal_autophagy2.26831803
13MP0001800_abnormal_humoral_immune2.23820601
14MP0002723_abnormal_immune_serum2.20934160
15MP0009785_altered_susceptibility_to2.20645974
16MP0003866_abnormal_defecation2.11319825
17MP0005058_abnormal_lysosome_morphology2.05763270
18MP0002398_abnormal_bone_marrow2.05758556
19MP0000703_abnormal_thymus_morphology2.05045419
20MP0000685_abnormal_immune_system1.99030888
21MP0005451_abnormal_body_composition1.98646706
22MP0002452_abnormal_antigen_presenting1.95145023
23MP0002419_abnormal_innate_immunity1.94449783
24MP0003786_premature_aging1.93543358
25MP0000716_abnormal_immune_system1.91998862
26MP0003693_abnormal_embryo_hatching1.86547403
27MP0009278_abnormal_bone_marrow1.82522719
28MP0002722_abnormal_immune_system1.79256380
29MP0002148_abnormal_hypersensitivity_rea1.78549954
30MP0006036_abnormal_mitochondrial_physio1.78235970
31MP0003724_increased_susceptibility_to1.74092317
32MP0003806_abnormal_nucleotide_metabolis1.73493950
33MP0002429_abnormal_blood_cell1.69682906
34MP0000858_altered_metastatic_potential1.66706004
35MP0000689_abnormal_spleen_morphology1.63129338
36MP0001790_abnormal_immune_system1.60733996
37MP0005387_immune_system_phenotype1.60733996
38MP0000465_gastrointestinal_hemorrhage1.59373430
39MP0009379_abnormal_foot_pigmentation1.59047175
40MP0008058_abnormal_DNA_repair1.58912118
41MP0000490_abnormal_crypts_of1.53827975
42MP0003111_abnormal_nucleus_morphology1.51209778
43MP0002405_respiratory_system_inflammati1.50680237
44MP0005075_abnormal_melanosome_morpholog1.46635971
45MP0010155_abnormal_intestine_physiology1.40597941
46MP0001845_abnormal_inflammatory_respons1.37945292
47MP0002653_abnormal_ependyma_morphology1.37628729
48MP0002822_catalepsy1.33091441
49MP0010094_abnormal_chromosome_stability1.31380705
50MP0008469_abnormal_protein_level1.30968536
51MP0004947_skin_inflammation1.29401870
52MP0006035_abnormal_mitochondrial_morpho1.28853725
53MP0002019_abnormal_tumor_incidence1.28819901
54MP0002132_abnormal_respiratory_system1.27601271
55MP0005377_hearing/vestibular/ear_phenot1.26897657
56MP0003878_abnormal_ear_physiology1.26897657
57MP0001853_heart_inflammation1.23398663
58MP0005464_abnormal_platelet_physiology1.21807858
59MP0001764_abnormal_homeostasis1.18086385
60MP0000678_abnormal_parathyroid_gland1.15637953
61MP0002163_abnormal_gland_morphology1.13039317
62MP0000681_abnormal_thyroid_gland1.11870167
63MP0001905_abnormal_dopamine_level1.08742609
64MP0001533_abnormal_skeleton_physiology1.07801792
65MP0003077_abnormal_cell_cycle1.07050481
66MP0002277_abnormal_respiratory_mucosa1.06434033
67MP0003172_abnormal_lysosome_physiology1.02487211
68MP0002249_abnormal_larynx_morphology1.01444383
69MP0000313_abnormal_cell_death1.00820500
70MP0001346_abnormal_lacrimal_gland0.99400959
71MP0008995_early_reproductive_senescence0.99019178
72MP0008932_abnormal_embryonic_tissue0.98559239
73MP0003123_paternal_imprinting0.97862903
74MP0003191_abnormal_cellular_cholesterol0.93621079
75MP0001919_abnormal_reproductive_system0.92276005
76MP0005397_hematopoietic_system_phenotyp0.91459570
77MP0001545_abnormal_hematopoietic_system0.91459570
78MP0004185_abnormal_adipocyte_glucose0.90671482
79MP0002234_abnormal_pharynx_morphology0.86982163
80MP0001663_abnormal_digestive_system0.84696336
81MP0004858_abnormal_nervous_system0.84391860
82MP0004381_abnormal_hair_follicle0.82282636
83MP0005501_abnormal_skin_physiology0.82045825
84MP0004510_myositis0.80066223
85MP0003075_altered_response_to0.78277317
86MP0004957_abnormal_blastocyst_morpholog0.77247598
87MP0008873_increased_physiological_sensi0.77234421
88MP0002933_joint_inflammation0.76762760
89MP0003787_abnormal_imprinting0.76390173
90MP0005166_decreased_susceptibility_to0.74407816
91MP0000358_abnormal_cell_content/0.73181612
92MP0008789_abnormal_olfactory_epithelium0.71003696
93MP0000750_abnormal_muscle_regeneration0.69933630
94MP0009764_decreased_sensitivity_to0.67712932
95MP0008007_abnormal_cellular_replicative0.66747242
96MP0009763_increased_sensitivity_to0.65180467
97MP0005394_taste/olfaction_phenotype0.62858477
98MP0005499_abnormal_olfactory_system0.62858477
99MP0003186_abnormal_redox_activity0.62526175
100MP0001348_abnormal_lacrimal_gland0.60985455

Predicted human phenotypes

RankGene SetZ-score
1Hepatocellular necrosis (HP:0001404)3.80394102
2Abnormal mitochondria in muscle tissue (HP:0008316)3.77874631
3Increased IgM level (HP:0003496)3.77074897
4Mitochondrial inheritance (HP:0001427)3.61635151
5Chronic obstructive pulmonary disease (HP:0006510)3.52027004
6Obstructive lung disease (HP:0006536)3.52027004
7Acute necrotizing encephalopathy (HP:0006965)3.41657629
8Eczematoid dermatitis (HP:0000976)3.39180595
9Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.36681763
10Decreased activity of mitochondrial respiratory chain (HP:0008972)3.36681763
11Reticulocytopenia (HP:0001896)3.27886136
12Hepatic necrosis (HP:0002605)3.24987833
13Recurrent abscess formation (HP:0002722)3.24051554
14Elevated erythrocyte sedimentation rate (HP:0003565)3.23671113
15Increased intramyocellular lipid droplets (HP:0012240)3.08261787
16Abnormality of cells of the erythroid lineage (HP:0012130)3.07033834
17Hypertensive crisis (HP:0100735)3.04300756
18Abnormal delayed hypersensitivity skin test (HP:0002963)3.02358542
19Increased muscle lipid content (HP:0009058)3.02138253
20Increased CSF lactate (HP:0002490)3.00610917
21Abnormal number of erythroid precursors (HP:0012131)2.96712388
22Aplasia/Hypoplasia of the sacrum (HP:0008517)2.93138885
23Recurrent bacterial skin infections (HP:0005406)2.85862972
24Acute encephalopathy (HP:0006846)2.84450788
25Panhypogammaglobulinemia (HP:0003139)2.81640031
26Ragged-red muscle fibers (HP:0003200)2.76757258
27Abnormality of macrophages (HP:0004311)2.74717158
28Myositis (HP:0100614)2.69293699
29Granulocytopenia (HP:0001913)2.68625797
30Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.68318724
31Agammaglobulinemia (HP:0004432)2.66084770
32Severe combined immunodeficiency (HP:0004430)2.63854716
33Aplastic anemia (HP:0001915)2.63588023
34Encephalitis (HP:0002383)2.62761979
35Meningitis (HP:0001287)2.58150915
36Gastrointestinal inflammation (HP:0004386)2.55586919
37Microretrognathia (HP:0000308)2.52183803
38Recurrent fungal infections (HP:0002841)2.51288522
39Progressive macrocephaly (HP:0004481)2.50941067
40Pallor (HP:0000980)2.49098151
41Mediastinal lymphadenopathy (HP:0100721)2.45273028
42Lactic acidosis (HP:0003128)2.43737459
43Autoimmune hemolytic anemia (HP:0001890)2.42821203
44Abnormality of T cells (HP:0002843)2.42520476
45Abnormality of T cell physiology (HP:0011840)2.42110032
46Cerebral palsy (HP:0100021)2.41558285
47Progressive microcephaly (HP:0000253)2.37055645
48Increased IgE level (HP:0003212)2.35199181
49Broad distal phalanx of finger (HP:0009836)2.35043220
50Inflammation of the large intestine (HP:0002037)2.32989288
51Petechiae (HP:0000967)2.32523595
52Pancytopenia (HP:0001876)2.28405796
53Increased serum lactate (HP:0002151)2.26471027
54Microvesicular hepatic steatosis (HP:0001414)2.24971896
55Truncus arteriosus (HP:0001660)2.24667043
56Autoimmune thrombocytopenia (HP:0001973)2.24448522
57Seborrheic dermatitis (HP:0001051)2.23313178
58Exercise intolerance (HP:0003546)2.20247063
59Recurrent cutaneous fungal infections (HP:0011370)2.19631967
60Chronic mucocutaneous candidiasis (HP:0002728)2.19631967
61Stomatitis (HP:0010280)2.19605756
62Colitis (HP:0002583)2.18092317
63Recurrent gram-negative bacterial infections (HP:0005420)2.17740394
64Increased serum ferritin (HP:0003281)2.17625418
65Combined immunodeficiency (HP:0005387)2.17325116
66Hypergammaglobulinemia (HP:0010702)2.16969589
67Cerebral edema (HP:0002181)2.16460401
68Muscle fiber atrophy (HP:0100295)2.13639855
69Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.13578094
70Hyperthyroidism (HP:0000836)2.12453313
71Emotional lability (HP:0000712)2.07776063
72Urticaria (HP:0001025)2.07477890
73Increased hepatocellular lipid droplets (HP:0006565)2.06242263
74Hepatosplenomegaly (HP:0001433)2.06137630
753-Methylglutaconic aciduria (HP:0003535)2.04890909
76Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.03511022
77Orchitis (HP:0100796)2.02998067
78Renal Fanconi syndrome (HP:0001994)2.02743911
79IgG deficiency (HP:0004315)2.00259408
80Growth hormone excess (HP:0000845)1.99460421
81Hypochromic anemia (HP:0001931)1.99351168
82Recurrent viral infections (HP:0004429)1.99063629
83Recurrent skin infections (HP:0001581)1.98486636
84Macrocytic anemia (HP:0001972)1.97845253
85Lipid accumulation in hepatocytes (HP:0006561)1.95924139
86Respiratory difficulties (HP:0002880)1.95869305
87Abnormality of reticulocytes (HP:0004312)1.95126261
88Progressive muscle weakness (HP:0003323)1.94556480
89Respiratory failure (HP:0002878)1.93477827
90Neutropenia (HP:0001875)1.93276611
91Abnormality of cells of the lymphoid lineage (HP:0012140)1.93058372
92Aplasia/Hypoplasia of the thymus (HP:0010515)1.92368903
93IgM deficiency (HP:0002850)1.92350034
94Optic neuritis (HP:0100653)1.91735346
95Retrobulbar optic neuritis (HP:0100654)1.91735346
96Abnormality of DNA repair (HP:0003254)1.91537733
97Testicular atrophy (HP:0000029)1.91297328
98Abnormality of T cell number (HP:0011839)1.90729087
99Cholecystitis (HP:0001082)1.90021552
100Abnormal gallbladder physiology (HP:0012438)1.90021552

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TESK24.64859186
2NME23.54850644
3VRK23.20169664
4MAP3K113.18490031
5MAP4K13.16049885
6KDR3.10042289
7TESK12.72354122
8TLK12.43252141
9GRK62.37779612
10BCKDK2.33074063
11TRIB31.99405299
12ARAF1.79611998
13CDK191.70601203
14SMG11.63296088
15PIM21.61408316
16STK161.57526965
17TNK21.52984824
18ERN11.52276852
19IRAK31.38729130
20SCYL21.33653991
21TBK11.30901864
22BUB11.28768182
23TYK21.28216257
24LIMK11.25938928
25SIK11.25781516
26RIPK41.23300392
27TXK1.19956878
28DAPK11.16574638
29IRAK41.12420510
30TAOK21.11811986
31SIK31.11286917
32CAMKK11.08312289
33BTK1.08238573
34MAP2K21.08101947
35MAP4K21.07773737
36MAP2K31.05923910
37SIK21.05531970
38TAOK31.05402766
39ZAP701.04614555
40RPS6KA41.03479342
41LRRK21.01449157
42PRPF4B1.00716429
43FES0.96108138
44VRK10.94408354
45AURKA0.94107378
46ILK0.89831063
47MAP2K60.89757025
48BLK0.87713565
49IKBKB0.84839094
50ABL20.81213925
51TAOK10.80313354
52PASK0.75734938
53SYK0.73520748
54CSNK1G30.72957367
55MUSK0.71381875
56NME10.71325382
57IKBKE0.69034187
58LCK0.68949775
59ITK0.68048780
60CDC70.66459573
61MAPK120.63494174
62MARK30.62957832
63MAP3K120.62598291
64CSK0.61997384
65CSF1R0.60781081
66PAK10.56801697
67CDK40.54665989
68RPS6KA50.54237545
69LYN0.54183910
70DYRK20.52889439
71ZAK0.52809260
72BRAF0.52671889
73HCK0.52162958
74IRAK20.50705766
75CDK70.49828662
76MAP2K70.49535161
77ATR0.49387760
78PIM10.48792483
79MAP3K10.48249487
80CSNK1A1L0.47132375
81DYRK1B0.46409815
82MAPK110.45649381
83JAK30.45255822
84PRKD20.44680342
85STK100.44481711
86DAPK30.43448394
87CDK80.43061142
88BRSK10.43001076
89PRKCI0.41705998
90PRKD30.41292406
91MAPKAPK30.41253794
92AURKB0.40945023
93MAP3K140.39189952
94CCNB10.38763437
95RPS6KB20.38551516
96MAP3K80.38323047
97RPS6KC10.37621972
98RPS6KL10.37621972
99PTK60.36471638
100CAMKK20.36387246

Predicted pathways (KEGG)

RankGene SetZ-score
1Ribosome_Homo sapiens_hsa030104.20186247
2Primary immunodeficiency_Homo sapiens_hsa053403.54897071
3DNA replication_Homo sapiens_hsa030303.38513727
4Base excision repair_Homo sapiens_hsa034103.31521607
5Oxidative phosphorylation_Homo sapiens_hsa001903.20213830
6Sulfur relay system_Homo sapiens_hsa041222.80778793
7Parkinsons disease_Homo sapiens_hsa050122.71589466
8Proteasome_Homo sapiens_hsa030502.69198388
9RNA polymerase_Homo sapiens_hsa030202.21104649
10Pyrimidine metabolism_Homo sapiens_hsa002402.17358056
11Graft-versus-host disease_Homo sapiens_hsa053322.08177407
12Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.98100861
13Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.92363019
14Allograft rejection_Homo sapiens_hsa053301.90979637
15Autoimmune thyroid disease_Homo sapiens_hsa053201.90490568
16Huntingtons disease_Homo sapiens_hsa050161.77574873
17Spliceosome_Homo sapiens_hsa030401.77429008
18Mismatch repair_Homo sapiens_hsa034301.75801571
19Alzheimers disease_Homo sapiens_hsa050101.73066974
20Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.62993897
21Homologous recombination_Homo sapiens_hsa034401.61080524
22Antigen processing and presentation_Homo sapiens_hsa046121.60184399
23Other glycan degradation_Homo sapiens_hsa005111.39335749
24Shigellosis_Homo sapiens_hsa051311.36133174
25Viral myocarditis_Homo sapiens_hsa054161.34933853
26Type I diabetes mellitus_Homo sapiens_hsa049401.34048047
27Pentose phosphate pathway_Homo sapiens_hsa000301.31377913
28Nucleotide excision repair_Homo sapiens_hsa034201.25961370
29Leishmaniasis_Homo sapiens_hsa051401.21656727
30Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.20392392
31RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.19039910
32T cell receptor signaling pathway_Homo sapiens_hsa046601.18403463
33Fructose and mannose metabolism_Homo sapiens_hsa000511.15239920
34Fanconi anemia pathway_Homo sapiens_hsa034601.13034110
35Herpes simplex infection_Homo sapiens_hsa051681.10285261
36Acute myeloid leukemia_Homo sapiens_hsa052211.08425667
37Intestinal immune network for IgA production_Homo sapiens_hsa046721.07314050
382-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.04575393
39Asthma_Homo sapiens_hsa053101.03240599
40Epstein-Barr virus infection_Homo sapiens_hsa051691.01100700
41Vitamin B6 metabolism_Homo sapiens_hsa007500.97166036
42Biosynthesis of amino acids_Homo sapiens_hsa012300.96179531
43Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.96090498
44Salmonella infection_Homo sapiens_hsa051320.93007556
45B cell receptor signaling pathway_Homo sapiens_hsa046620.92098856
46Osteoclast differentiation_Homo sapiens_hsa043800.91110842
47Purine metabolism_Homo sapiens_hsa002300.90434390
48Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.88169967
49Cyanoamino acid metabolism_Homo sapiens_hsa004600.86385173
50Collecting duct acid secretion_Homo sapiens_hsa049660.84242604
51Tuberculosis_Homo sapiens_hsa051520.81114778
52Vibrio cholerae infection_Homo sapiens_hsa051100.78962202
53Hematopoietic cell lineage_Homo sapiens_hsa046400.78940141
54Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.78523316
55Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.77172558
56Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.76216788
57NF-kappa B signaling pathway_Homo sapiens_hsa040640.76031924
58Toll-like receptor signaling pathway_Homo sapiens_hsa046200.76005158
59Galactose metabolism_Homo sapiens_hsa000520.73240665
60Apoptosis_Homo sapiens_hsa042100.72102874
61Rheumatoid arthritis_Homo sapiens_hsa053230.72069123
62Measles_Homo sapiens_hsa051620.68608330
63Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.67787719
64Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.65581015
65Cardiac muscle contraction_Homo sapiens_hsa042600.64011096
66Systemic lupus erythematosus_Homo sapiens_hsa053220.63964917
67Glutathione metabolism_Homo sapiens_hsa004800.63612634
68NOD-like receptor signaling pathway_Homo sapiens_hsa046210.62641641
69Folate biosynthesis_Homo sapiens_hsa007900.61746367
70Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.61454788
71HTLV-I infection_Homo sapiens_hsa051660.60398023
72Carbon metabolism_Homo sapiens_hsa012000.59376580
73SNARE interactions in vesicular transport_Homo sapiens_hsa041300.58749576
74Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.57362865
75Non-small cell lung cancer_Homo sapiens_hsa052230.57156467
76Fatty acid elongation_Homo sapiens_hsa000620.55051440
77Synaptic vesicle cycle_Homo sapiens_hsa047210.53418282
78Legionellosis_Homo sapiens_hsa051340.53367994
79Staphylococcus aureus infection_Homo sapiens_hsa051500.53120263
80Pertussis_Homo sapiens_hsa051330.50032913
81Phagosome_Homo sapiens_hsa041450.49978246
82RNA transport_Homo sapiens_hsa030130.47511276
83Viral carcinogenesis_Homo sapiens_hsa052030.47243941
84Lysosome_Homo sapiens_hsa041420.44309336
85Drug metabolism - other enzymes_Homo sapiens_hsa009830.44066704
86Hepatitis B_Homo sapiens_hsa051610.41529474
87Metabolic pathways_Homo sapiens_hsa011000.40972957
88Endocytosis_Homo sapiens_hsa041440.40947496
89VEGF signaling pathway_Homo sapiens_hsa043700.39964292
90Regulation of autophagy_Homo sapiens_hsa041400.39256961
91Chemokine signaling pathway_Homo sapiens_hsa040620.38556834
92Influenza A_Homo sapiens_hsa051640.37467871
93Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.37125160
94N-Glycan biosynthesis_Homo sapiens_hsa005100.36792841
95Notch signaling pathway_Homo sapiens_hsa043300.36735725
96Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.35526469
97Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.35178796
98Pancreatic cancer_Homo sapiens_hsa052120.33707713
99Glycosaminoglycan degradation_Homo sapiens_hsa005310.33488668
100Malaria_Homo sapiens_hsa051440.33197506

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