RNF103-CHMP3

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 locus represents naturally occurring read-through transcription between the neighboring RNF103 (ring finger protein 103) and CHMP3 (charged multivesicular body protein 3) genes. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1cell wall macromolecule catabolic process (GO:0016998)8.95731751
2cell wall macromolecule metabolic process (GO:0044036)7.61319066
3positive regulation of cellular amide metabolic process (GO:0034250)4.45266351
4negative regulation of JAK-STAT cascade (GO:0046426)4.14237560
5deoxyribonucleoside monophosphate metabolic process (GO:0009162)4.05936691
6fusion of sperm to egg plasma membrane (GO:0007342)3.87210507
7ATP synthesis coupled proton transport (GO:0015986)3.82939163
8energy coupled proton transport, down electrochemical gradient (GO:0015985)3.82939163
9RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)3.57433118
10response to UV-C (GO:0010225)3.57046846
11pyrimidine deoxyribonucleotide catabolic process (GO:0009223)3.52462900
12activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO3.44918575
13negative regulation of B cell apoptotic process (GO:0002903)3.40447672
14chaperone mediated protein folding requiring cofactor (GO:0051085)3.38163539
15viral mRNA export from host cell nucleus (GO:0046784)3.35762253
16pyrimidine nucleotide catabolic process (GO:0006244)3.35490042
17peptidyl-histidine modification (GO:0018202)3.31703747
18sulfation (GO:0051923)3.21747183
19base-excision repair, AP site formation (GO:0006285)3.16653142
20DNA deamination (GO:0045006)3.16543183
21regulation of DNA damage checkpoint (GO:2000001)3.13525123
22pseudouridine synthesis (GO:0001522)3.10639711
23energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)3.09553486
24ATP hydrolysis coupled proton transport (GO:0015991)3.09553486
25mismatch repair (GO:0006298)3.08610916
26preassembly of GPI anchor in ER membrane (GO:0016254)3.07272029
27pentose-phosphate shunt (GO:0006098)3.06573097
28plasma membrane fusion (GO:0045026)3.06083428
29deoxyribonucleoside triphosphate metabolic process (GO:0009200)3.03989571
30purine deoxyribonucleoside triphosphate metabolic process (GO:0009215)3.01204815
31cellular copper ion homeostasis (GO:0006878)2.99841837
32regulation of meiosis I (GO:0060631)2.98652044
33copper ion homeostasis (GO:0055070)2.94977249
34regulation of B cell apoptotic process (GO:0002902)2.92156389
35protein prenylation (GO:0018342)2.90604271
36prenylation (GO:0097354)2.90604271
37short-chain fatty acid metabolic process (GO:0046459)2.89592661
38regulation of somitogenesis (GO:0014807)2.88590299
39righting reflex (GO:0060013)2.88435512
40deoxyribose phosphate catabolic process (GO:0046386)2.88173486
41deoxyribonucleotide catabolic process (GO:0009264)2.87715577
42nucleotide salvage (GO:0043173)2.87338758
43purine deoxyribonucleotide metabolic process (GO:0009151)2.78169161
44G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)2.76647028
45purine deoxyribonucleotide catabolic process (GO:0009155)2.72396469
46negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)2.70960339
47autophagic vacuole fusion (GO:0000046)2.70391010
48purine-containing compound salvage (GO:0043101)2.70297406
49multicellular organism reproduction (GO:0032504)2.70102272
50maturation of 5.8S rRNA (GO:0000460)2.70036582
51NADPH regeneration (GO:0006740)2.66955605
52heme biosynthetic process (GO:0006783)2.65867114
53GTP biosynthetic process (GO:0006183)2.64962940
54copper ion transport (GO:0006825)2.64721540
55positive regulation of protein kinase C signaling (GO:0090037)2.64476311
56regulation of beta-amyloid formation (GO:1902003)2.63726597
572-deoxyribonucleotide metabolic process (GO:0009394)2.62455511
58heme metabolic process (GO:0042168)2.62421649
59iron-sulfur cluster assembly (GO:0016226)2.60974755
60metallo-sulfur cluster assembly (GO:0031163)2.60974755
61regulation of mast cell activation (GO:0033003)2.59763862
62tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.59440637
63RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.59440637
64response to peptidoglycan (GO:0032494)2.59070941
65snRNA processing (GO:0016180)2.57050204
66DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:002.56940197
67piRNA metabolic process (GO:0034587)2.56752611
68meiosis I (GO:0007127)2.54865585
69dosage compensation (GO:0007549)2.54307274
70hemoglobin metabolic process (GO:0020027)2.53716367
71protein K6-linked ubiquitination (GO:0085020)2.52532846
72deoxyribose phosphate metabolic process (GO:0019692)2.52104343
73protoporphyrinogen IX metabolic process (GO:0046501)2.51489138
74guanosine-containing compound biosynthetic process (GO:1901070)2.49325298
75male meiosis I (GO:0007141)2.49109027
76signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)2.48250304
77intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)2.48250304
78pyrimidine-containing compound salvage (GO:0008655)2.47509600
79pyrimidine nucleoside salvage (GO:0043097)2.47509600
80centriole replication (GO:0007099)2.45770026
81signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)2.45657104
82signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)2.45657104
83signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)2.45657104
84growth hormone receptor signaling pathway (GO:0060396)2.44196608
85pyrimidine deoxyribonucleotide metabolic process (GO:0009219)2.43115634
86GMP metabolic process (GO:0046037)2.39976018
87negative regulation of interleukin-1 beta production (GO:0032691)2.38765312
88negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)2.38420257
89positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)2.36848775
90tRNA processing (GO:0008033)2.36437426
91deoxyribonucleotide metabolic process (GO:0009262)2.36164321
92regulation of protein heterodimerization activity (GO:0043497)2.35774002
93positive regulation of B cell differentiation (GO:0045579)2.35609439
94Arp2/3 complex-mediated actin nucleation (GO:0034314)2.35272635
95CTP biosynthetic process (GO:0006241)2.35045229
96CTP metabolic process (GO:0046036)2.35045229
97nucleoside salvage (GO:0043174)2.34662186
98poly(A)+ mRNA export from nucleus (GO:0016973)2.34605384
99termination of RNA polymerase III transcription (GO:0006386)2.34491657
100transcription elongation from RNA polymerase III promoter (GO:0006385)2.34491657

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1STAT6_21828071_ChIP-Seq_BEAS2B_Human3.94517771
2ELF1_17652178_ChIP-ChIP_JURKAT_Human3.80722233
3NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.73894535
4CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human3.32357498
5IRF8_22096565_ChIP-ChIP_GC-B_Human3.05901531
6ETS1_20019798_ChIP-Seq_JURKAT_Human2.97828114
7FOXP3_21729870_ChIP-Seq_TREG_Human2.95092978
8E2F7_22180533_ChIP-Seq_HELA_Human2.89094086
9KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.88115475
10EST1_17652178_ChIP-ChIP_JURKAT_Human2.85957349
11VDR_23849224_ChIP-Seq_CD4+_Human2.83106620
12BP1_19119308_ChIP-ChIP_Hs578T_Human2.80655901
13JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.76948855
14GABP_17652178_ChIP-ChIP_JURKAT_Human2.67178422
15SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.58413923
16EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.55207982
17TAL1_20887958_ChIP-Seq_HPC-7_Mouse2.36291011
18PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.35498256
19SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.15732009
20SCL_19346495_ChIP-Seq_HPC-7_Human2.02683408
21HOXB4_20404135_ChIP-ChIP_EML_Mouse1.97919041
22FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.95940789
23SRF_21415370_ChIP-Seq_HL-1_Mouse1.95065652
24IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.93264026
25HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.91276732
26SPI1_23547873_ChIP-Seq_NB4_Human1.91250107
27IRF8_21731497_ChIP-ChIP_J774_Mouse1.89867381
28MYC_18358816_ChIP-ChIP_MESCs_Mouse1.86078427
29TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.83426854
30CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.81540177
31MYC_18555785_ChIP-Seq_MESCs_Mouse1.77912740
32CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.72760991
33E2F4_17652178_ChIP-ChIP_JURKAT_Human1.71054493
34CREB1_15753290_ChIP-ChIP_HEK293T_Human1.70693798
35RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.69908523
36CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.69880047
37IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.68847213
38MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.67511391
39E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.66907584
40DCP1A_22483619_ChIP-Seq_HELA_Human1.65725620
41ELK1_19687146_ChIP-ChIP_HELA_Human1.65392703
42GATA3_26560356_Chip-Seq_TH2_Human1.61415383
43NELFA_20434984_ChIP-Seq_ESCs_Mouse1.60978837
44LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.58833722
45MYB_26560356_Chip-Seq_TH2_Human1.58529885
46SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.52373055
47YY1_21170310_ChIP-Seq_MESCs_Mouse1.49270251
48THAP11_20581084_ChIP-Seq_MESCs_Mouse1.46948854
49BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.45549946
50GABP_19822575_ChIP-Seq_HepG2_Human1.44328735
51MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.41139244
52FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.40804008
53MYC_19030024_ChIP-ChIP_MESCs_Mouse1.40648264
54TTF2_22483619_ChIP-Seq_HELA_Human1.40587590
55TFEB_21752829_ChIP-Seq_HELA_Human1.40479591
56MYB_21317192_ChIP-Seq_ERMYB_Mouse1.39703966
57EGR1_23403033_ChIP-Seq_LIVER_Mouse1.39163199
58ZNF274_21170338_ChIP-Seq_K562_Hela1.38810690
59PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.34298944
60LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.30963278
61VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.28203590
62MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.25649286
63GATA2_22383799_ChIP-Seq_G1ME_Mouse1.25534007
64FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.25215533
65VDR_21846776_ChIP-Seq_THP-1_Human1.24937753
66FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.23921844
67ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.22060798
68MYC_19079543_ChIP-ChIP_MESCs_Mouse1.21250392
69HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.18560893
70PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.17599933
71E2F1_18555785_ChIP-Seq_MESCs_Mouse1.17425137
72STAT4_19710469_ChIP-ChIP_TH1__Mouse1.16656399
73XRN2_22483619_ChIP-Seq_HELA_Human1.15504878
74GATA3_27048872_Chip-Seq_THYMUS_Human1.15363277
75SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.14235693
76PADI4_21655091_ChIP-ChIP_MCF-7_Human1.11781708
77BCL6_27268052_Chip-Seq_Bcells_Human1.11713236
78SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.11566165
79ERG_20887958_ChIP-Seq_HPC-7_Mouse1.10258908
80GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.10216894
81CIITA_25753668_ChIP-Seq_RAJI_Human1.09580045
82LDB1_21186366_ChIP-Seq_BM-HSCs_Mouse1.08820899
83NOTCH1_21737748_ChIP-Seq_TLL_Human1.07521645
84FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.07417741
85UTX_26944678_Chip-Seq_JUKART_Human1.06539585
86HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.06304505
87RUNX1_22412390_ChIP-Seq_EML_Mouse1.06238402
88HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.04757635
89ELK1_22589737_ChIP-Seq_MCF10A_Human1.04041578
90VDR_24763502_ChIP-Seq_THP-1_Human1.03796198
91TP53_22573176_ChIP-Seq_HFKS_Human1.03555036
92P300_27268052_Chip-Seq_Bcells_Human1.03157999
93MYB_26560356_Chip-Seq_TH1_Human1.02841284
94IRF1_19129219_ChIP-ChIP_H3396_Human1.01861778
95ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.00238501
96ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.98533392
97E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.95758791
98ELF1_20517297_ChIP-Seq_JURKAT_Human0.93922846
99GATA1_22383799_ChIP-Seq_G1ME_Mouse0.91470286
100MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse0.89419579

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003011_delayed_dark_adaptation4.96501389
2MP0000013_abnormal_adipose_tissue3.20266226
3MP0003656_abnormal_erythrocyte_physiolo3.15971346
4MP0002138_abnormal_hepatobiliary_system2.92014647
5MP0003806_abnormal_nucleotide_metabolis2.77664503
6MP0001968_abnormal_touch/_nociception2.74888409
7MP0005451_abnormal_body_composition2.59077409
8MP0001835_abnormal_antigen_presentation2.58038147
9MP0003172_abnormal_lysosome_physiology2.56912647
10MP0009333_abnormal_splenocyte_physiolog2.52963756
11MP0005464_abnormal_platelet_physiology2.15784937
12MP0002822_catalepsy2.13364218
13MP0009785_altered_susceptibility_to2.11185063
14MP0010368_abnormal_lymphatic_system2.09367274
15MP0003786_premature_aging1.88407727
16MP0005000_abnormal_immune_tolerance1.86151242
17MP0000465_gastrointestinal_hemorrhage1.84182935
18MP0002396_abnormal_hematopoietic_system1.82014470
19MP0008058_abnormal_DNA_repair1.75340304
20MP0005645_abnormal_hypothalamus_physiol1.71701528
21MP0002148_abnormal_hypersensitivity_rea1.71610378
22MP0008007_abnormal_cellular_replicative1.70324328
23MP0001800_abnormal_humoral_immune1.69117195
24MP0005410_abnormal_fertilization1.64126044
25MP0003436_decreased_susceptibility_to1.57983498
26MP0002733_abnormal_thermal_nociception1.51968902
27MP0003186_abnormal_redox_activity1.48529589
28MP0003693_abnormal_embryo_hatching1.46904953
29MP0002452_abnormal_antigen_presenting1.46766245
30MP0001545_abnormal_hematopoietic_system1.46534252
31MP0005397_hematopoietic_system_phenotyp1.46534252
32MP0008995_early_reproductive_senescence1.43929211
33MP0002398_abnormal_bone_marrow1.43811979
34MP0004147_increased_porphyrin_level1.43419033
35MP0002736_abnormal_nociception_after1.41529088
36MP0002723_abnormal_immune_serum1.40727634
37MP0005075_abnormal_melanosome_morpholog1.35472589
38MP0006036_abnormal_mitochondrial_physio1.34898065
39MP0002420_abnormal_adaptive_immunity1.34808911
40MP0001819_abnormal_immune_cell1.32267582
41MP0002419_abnormal_innate_immunity1.31606542
42MP0000681_abnormal_thyroid_gland1.30608090
43MP0009764_decreased_sensitivity_to1.25475018
44MP0005025_abnormal_response_to1.25417426
45MP0010094_abnormal_chromosome_stability1.22560198
46MP0005360_urolithiasis1.18313741
47MP0008469_abnormal_protein_level1.17967381
48MP0000716_abnormal_immune_system1.16010019
49MP0000689_abnormal_spleen_morphology1.13920051
50MP0006276_abnormal_autonomic_nervous1.12584915
51MP0002429_abnormal_blood_cell1.12254311
52MP0000003_abnormal_adipose_tissue1.11369523
53MP0005220_abnormal_exocrine_pancreas1.11138556
54MP0001727_abnormal_embryo_implantation1.10317991
55MP0005319_abnormal_enzyme/_coenzyme1.09167068
56MP0001853_heart_inflammation1.07662577
57MP0001243_abnormal_dermal_layer1.07501609
58MP0001845_abnormal_inflammatory_respons1.07023277
59MP0003724_increased_susceptibility_to1.05279500
60MP0008260_abnormal_autophagy1.04443569
61MP0009697_abnormal_copulation1.02705608
62MP0008004_abnormal_stomach_pH1.02513222
63MP0010386_abnormal_urinary_bladder1.01439437
64MP0003191_abnormal_cellular_cholesterol1.00965788
65MP0002722_abnormal_immune_system1.00965441
66MP0005671_abnormal_response_to1.00227826
67MP0009763_increased_sensitivity_to0.99921104
68MP0009780_abnormal_chondrocyte_physiolo0.98206871
69MP0009278_abnormal_bone_marrow0.97201460
70MP0000372_irregular_coat_pigmentation0.92089659
71MP0003828_pulmonary_edema0.91598922
72MP0001970_abnormal_pain_threshold0.91232639
73MP0004947_skin_inflammation0.91162110
74MP0008775_abnormal_heart_ventricle0.89806833
75MP0005551_abnormal_eye_electrophysiolog0.89317315
76MP0004782_abnormal_surfactant_physiolog0.89150041
77MP0005334_abnormal_fat_pad0.87222986
78MP0003880_abnormal_central_pattern0.86020431
79MP0002019_abnormal_tumor_incidence0.85851723
80MP0008872_abnormal_physiological_respon0.85380718
81MP0004957_abnormal_blastocyst_morpholog0.84679686
82MP0005646_abnormal_pituitary_gland0.83649157
83MP0005058_abnormal_lysosome_morphology0.83317957
84MP0003111_abnormal_nucleus_morphology0.82212491
85MP0008875_abnormal_xenobiotic_pharmacok0.81150246
86MP0005535_abnormal_body_temperature0.77642215
87MP0002132_abnormal_respiratory_system0.77491581
88MP0003950_abnormal_plasma_membrane0.76277387
89MP0000490_abnormal_crypts_of0.75977698
90MP0000358_abnormal_cell_content/0.75648349
91MP0004145_abnormal_muscle_electrophysio0.75035197
92MP0002102_abnormal_ear_morphology0.73677604
93MP0002970_abnormal_white_adipose0.73491466
94MP0009765_abnormal_xenobiotic_induced0.73245779
95MP0005636_abnormal_mineral_homeostasis0.71625751
96MP0006035_abnormal_mitochondrial_morpho0.70983747
97MP0003718_maternal_effect0.70578306
98MP0003183_abnormal_peptide_metabolism0.70296240
99MP0010771_integument_phenotype0.69932310
100MP0008873_increased_physiological_sensi0.68492064

Predicted human phenotypes

RankGene SetZ-score
1Retrobulbar optic neuritis (HP:0100654)5.05087906
2Optic neuritis (HP:0100653)5.05087906
3Orchitis (HP:0100796)4.56534840
4Myositis (HP:0100614)4.10966482
5Retinal dysplasia (HP:0007973)4.08196267
6Decreased central vision (HP:0007663)3.72386556
7Elevated erythrocyte sedimentation rate (HP:0003565)3.70213828
8Abnormality of the heme biosynthetic pathway (HP:0010472)3.65065329
9Cone-rod dystrophy (HP:0000548)3.61125180
10Keratoconjunctivitis sicca (HP:0001097)3.54565947
11Decreased electroretinogram (ERG) amplitude (HP:0000654)3.53261980
12Tongue fasciculations (HP:0001308)3.52507285
13Nonimmune hydrops fetalis (HP:0001790)3.49045583
14Acute hepatic failure (HP:0006554)3.34816675
15Ulnar claw (HP:0001178)3.30818547
16Keratoconjunctivitis (HP:0001096)3.25162563
17Muscle fibrillation (HP:0010546)3.18006971
18Microvesicular hepatic steatosis (HP:0001414)3.10929950
19Decreased number of large peripheral myelinated nerve fibers (HP:0003387)3.00325289
20Hepatocellular necrosis (HP:0001404)2.88629324
21Tetraparesis (HP:0002273)2.85535563
22Aplastic anemia (HP:0001915)2.84792552
23Anomalous pulmonary venous return (HP:0010772)2.78198883
24Abolished electroretinogram (ERG) (HP:0000550)2.73606689
25Hepatic necrosis (HP:0002605)2.72075713
26Prolonged bleeding time (HP:0003010)2.67807786
27Abnormality of alanine metabolism (HP:0010916)2.62014555
28Hyperalaninemia (HP:0003348)2.62014555
29Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.62014555
30Petechiae (HP:0000967)2.60998091
31Encephalitis (HP:0002383)2.59964825
32Increased serum ferritin (HP:0003281)2.59604387
33Amelogenesis imperfecta (HP:0000705)2.54621913
34Segmental peripheral demyelination/remyelination (HP:0003481)2.49788581
35Oral leukoplakia (HP:0002745)2.48721799
36Panhypogammaglobulinemia (HP:0003139)2.45799135
37Amyloidosis (HP:0011034)2.45008624
38Generalized aminoaciduria (HP:0002909)2.44648790
39Arterial thrombosis (HP:0004420)2.40277924
40Abnormality of the pulmonary veins (HP:0011718)2.38861478
41Prostate neoplasm (HP:0100787)2.37781793
42Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.37684571
43Abnormality of transition element cation homeostasis (HP:0011030)2.35117927
44Gangrene (HP:0100758)2.34667041
45Abnormality of dental color (HP:0011073)2.33618738
46Pulmonary infiltrates (HP:0002113)2.32290548
47Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.32114565
48Decreased activity of mitochondrial respiratory chain (HP:0008972)2.32114565
49Long foot (HP:0001833)2.31330542
50Pustule (HP:0200039)2.29171656
51Neoplasm of the adrenal cortex (HP:0100641)2.28031611
52Dyschromatopsia (HP:0007641)2.28003548
53Progressive muscle weakness (HP:0003323)2.27494776
54Abnormality of iron homeostasis (HP:0011031)2.26951391
55B lymphocytopenia (HP:0010976)2.25941514
56Increased muscle lipid content (HP:0009058)2.23965579
57Abnormal mitochondria in muscle tissue (HP:0008316)2.21275643
58Impaired proprioception (HP:0010831)2.20031669
59Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.18345660
60Capillary hemangiomas (HP:0005306)2.17083073
61Rough bone trabeculation (HP:0100670)2.14414168
62Lipid accumulation in hepatocytes (HP:0006561)2.13422538
63Anorexia (HP:0002039)2.12974974
64Abnormality of the vocal cords (HP:0008777)2.12309686
65Increased CSF lactate (HP:0002490)2.11672847
66Abnormality of B cell number (HP:0010975)2.11344672
67Visual hallucinations (HP:0002367)2.09572343
68Abnormality of the prostate (HP:0008775)2.09158251
69Congenital stationary night blindness (HP:0007642)2.08717700
70Constricted visual fields (HP:0001133)2.08446511
71Mitochondrial inheritance (HP:0001427)2.08147382
72Increased serum lactate (HP:0002151)2.07022834
73Acute encephalopathy (HP:0006846)2.04866681
74Meningitis (HP:0001287)2.04374539
75Gastrointestinal infarctions (HP:0005244)2.03213393
76Diaphragmatic weakness (HP:0009113)2.01369241
77Ependymoma (HP:0002888)2.01331926
78Glomerulopathy (HP:0100820)2.01068740
79Acute necrotizing encephalopathy (HP:0006965)2.00426463
80Areflexia of lower limbs (HP:0002522)1.99289355
81Increased intramyocellular lipid droplets (HP:0012240)1.98040017
823-Methylglutaconic aciduria (HP:0003535)1.97054886
83Episodic fever (HP:0001954)1.93509048
84Polyneuropathy (HP:0001271)1.92049464
85Vacuolated lymphocytes (HP:0001922)1.91837096
86Absent rod-and cone-mediated responses on ERG (HP:0007688)1.91100455
87Hemoptysis (HP:0002105)1.90130211
88Epistaxis (HP:0000421)1.88432915
89Abnormality of the anterior horn cell (HP:0006802)1.86291922
90Degeneration of anterior horn cells (HP:0002398)1.86291922
91Lactic acidosis (HP:0003128)1.84224995
92Pancreatitis (HP:0001733)1.83985360
93Increased IgE level (HP:0003212)1.83904423
94Late onset (HP:0003584)1.79723559
95Exercise intolerance (HP:0003546)1.78229460
96Microcytic anemia (HP:0001935)1.77075124
97Granulocytopenia (HP:0001913)1.75562536
98Recurrent viral infections (HP:0004429)1.75517212
99Hypertensive crisis (HP:0100735)1.75169757
100Gastrointestinal inflammation (HP:0004386)1.72168814

Predicted kinase interactions (KEA)

RankGene SetZ-score
1KDR7.65994544
2BMPR1B4.62401369
3BLK4.37823089
4SCYL24.35948967
5CDK83.90183644
6TESK23.25910687
7TGFBR12.34938901
8MAP2K62.01548598
9VRK21.87402883
10RPS6KA41.83180965
11TEC1.80814723
12BCKDK1.65423347
13KIT1.61892392
14STK41.61614894
15VRK11.59767778
16CDK91.59057583
17NUAK11.57998957
18NME21.51508664
19TAOK31.50388789
20BMPR21.44960607
21MAP4K11.40260289
22ILK1.36284414
23PIM21.35197003
24HIPK21.31508578
25TLK11.25953749
26MAP4K21.24745957
27FES1.20247102
28GRK61.19935209
29SYK1.18438963
30RAF11.13522452
31DAPK11.07931967
32MAPKAPK51.06590449
33IKBKB0.99588551
34MAP2K30.98529445
35BMX0.98196505
36CSF1R0.92488475
37EIF2AK30.89728264
38FLT30.88060375
39LYN0.83358700
40ZAK0.79392024
41RPS6KA50.79252077
42MAPKAPK30.78917585
43CCNB10.76103412
44TBK10.75155543
45ABL20.74371818
46IRAK30.74143053
47EIF2AK10.73048208
48ARAF0.72343428
49IRAK10.68759175
50DAPK30.67481908
51RIPK40.67481705
52CDC70.66543677
53PBK0.66283049
54RPS6KB20.66075396
55PIM10.64915242
56ATR0.63416289
57CDK70.62711804
58CDK30.60654537
59PKN10.59452571
60STK160.59219626
61TRPM70.57870274
62ZAP700.56810975
63TXK0.54280078
64IKBKE0.54273030
65CDK190.51648250
66ITK0.49024918
67CAMK2D0.47179519
68GRK10.40248345
69IRAK40.39873776
70WNK30.39159401
71PAK10.38998856
72MAPKAPK20.38173192
73BUB10.38088884
74LIMK10.36976667
75BTK0.36649348
76ERBB30.36271255
77GRK50.35309533
78PLK30.35173575
79LMTK20.34241765
80MAP3K140.32993470
81PIK3CG0.32949247
82MAP3K10.31543313
83CAMK2G0.30841359
84LCK0.29547237
85DYRK30.26901714
86AURKB0.26599951
87CDK40.26084348
88CSNK2A20.25037922
89PAK40.25032855
90ATM0.24858190
91PLK40.24828481
92MAPK110.24295757
93SMG10.24251251
94ERN10.23235492
95ABL10.22314115
96CSNK2A10.22222599
97PRKG10.20269541
98MAP3K120.18499797
99NEK60.18126519
100CSNK1A10.17313393

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030504.03433831
2Asthma_Homo sapiens_hsa053102.98514960
3Base excision repair_Homo sapiens_hsa034102.41142802
4RNA polymerase_Homo sapiens_hsa030202.37167771
5Oxidative phosphorylation_Homo sapiens_hsa001902.28983940
6Allograft rejection_Homo sapiens_hsa053302.16166093
7Systemic lupus erythematosus_Homo sapiens_hsa053222.08005910
8Parkinsons disease_Homo sapiens_hsa050122.04423419
9Regulation of autophagy_Homo sapiens_hsa041402.02679559
10Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.97757481
11Graft-versus-host disease_Homo sapiens_hsa053321.97675921
12Autoimmune thyroid disease_Homo sapiens_hsa053201.93641678
13Type I diabetes mellitus_Homo sapiens_hsa049401.86519544
14Hematopoietic cell lineage_Homo sapiens_hsa046401.81803741
15Homologous recombination_Homo sapiens_hsa034401.76577172
16Pyrimidine metabolism_Homo sapiens_hsa002401.71822944
17DNA replication_Homo sapiens_hsa030301.67716996
18Purine metabolism_Homo sapiens_hsa002301.66109285
19Mismatch repair_Homo sapiens_hsa034301.65519245
20Intestinal immune network for IgA production_Homo sapiens_hsa046721.64247592
21Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.61920310
22Antigen processing and presentation_Homo sapiens_hsa046121.59896659
23Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.58263507
24Fatty acid elongation_Homo sapiens_hsa000621.56039678
25Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.54418138
26Sulfur metabolism_Homo sapiens_hsa009201.53478964
27Leishmaniasis_Homo sapiens_hsa051401.51961714
28Other glycan degradation_Homo sapiens_hsa005111.48382188
29Pentose phosphate pathway_Homo sapiens_hsa000301.48037382
30One carbon pool by folate_Homo sapiens_hsa006701.43325038
31Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.39990628
32RNA transport_Homo sapiens_hsa030131.39448008
33Rheumatoid arthritis_Homo sapiens_hsa053231.31638130
34Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.31333571
35Basal transcription factors_Homo sapiens_hsa030221.23273310
36Huntingtons disease_Homo sapiens_hsa050161.22522304
37Dorso-ventral axis formation_Homo sapiens_hsa043201.22046278
38Staphylococcus aureus infection_Homo sapiens_hsa051501.16551663
39Ribosome_Homo sapiens_hsa030101.13266135
40SNARE interactions in vesicular transport_Homo sapiens_hsa041301.11416509
41Phototransduction_Homo sapiens_hsa047441.10289311
42NOD-like receptor signaling pathway_Homo sapiens_hsa046211.09937827
43Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.07464772
44Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.07138966
45RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.05532828
46Viral myocarditis_Homo sapiens_hsa054161.04697906
47Legionellosis_Homo sapiens_hsa051341.04074606
48Glycosaminoglycan degradation_Homo sapiens_hsa005311.03988346
49Spliceosome_Homo sapiens_hsa030401.02795144
50Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.02650421
51Alzheimers disease_Homo sapiens_hsa050101.02200675
52Transcriptional misregulation in cancer_Homo sapiens_hsa052021.01564184
53Collecting duct acid secretion_Homo sapiens_hsa049660.99389899
54Platelet activation_Homo sapiens_hsa046110.99284162
55Caffeine metabolism_Homo sapiens_hsa002320.98693617
56mRNA surveillance pathway_Homo sapiens_hsa030150.98259492
57RNA degradation_Homo sapiens_hsa030180.95628309
58alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.93063304
59Nitrogen metabolism_Homo sapiens_hsa009100.91741030
60Jak-STAT signaling pathway_Homo sapiens_hsa046300.91613893
61Arachidonic acid metabolism_Homo sapiens_hsa005900.91450697
62Influenza A_Homo sapiens_hsa051640.90610128
63Drug metabolism - other enzymes_Homo sapiens_hsa009830.86522810
64Peroxisome_Homo sapiens_hsa041460.86229787
65Epstein-Barr virus infection_Homo sapiens_hsa051690.84391348
66Toxoplasmosis_Homo sapiens_hsa051450.84189047
67Selenocompound metabolism_Homo sapiens_hsa004500.80789531
68Protein export_Homo sapiens_hsa030600.79206537
69Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.79054102
70Ovarian steroidogenesis_Homo sapiens_hsa049130.77288802
71Pentose and glucuronate interconversions_Homo sapiens_hsa000400.74632811
72Vibrio cholerae infection_Homo sapiens_hsa051100.74626210
73Tuberculosis_Homo sapiens_hsa051520.74546754
74Primary immunodeficiency_Homo sapiens_hsa053400.73922905
75Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.73232748
76Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.72356212
77Non-homologous end-joining_Homo sapiens_hsa034500.69547629
78Lysosome_Homo sapiens_hsa041420.66025087
79Herpes simplex infection_Homo sapiens_hsa051680.63359997
80Fanconi anemia pathway_Homo sapiens_hsa034600.63035208
81Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.62590058
82Metabolic pathways_Homo sapiens_hsa011000.53712751
83Salmonella infection_Homo sapiens_hsa051320.51856099
84Retinol metabolism_Homo sapiens_hsa008300.49132094
85Shigellosis_Homo sapiens_hsa051310.49131746
86Maturity onset diabetes of the young_Homo sapiens_hsa049500.47945768
87Phagosome_Homo sapiens_hsa041450.44323164
88Measles_Homo sapiens_hsa051620.43462076
89Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.42769714
90Carbon metabolism_Homo sapiens_hsa012000.41902395
91Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.41858633
92Fatty acid biosynthesis_Homo sapiens_hsa000610.41682043
93Alcoholism_Homo sapiens_hsa050340.40976591
94N-Glycan biosynthesis_Homo sapiens_hsa005100.39649454
95Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.36128330
96Chemical carcinogenesis_Homo sapiens_hsa052040.35152942
97Linoleic acid metabolism_Homo sapiens_hsa005910.34815707
98p53 signaling pathway_Homo sapiens_hsa041150.33955920
99Oocyte meiosis_Homo sapiens_hsa041140.33448959
100Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.32863942

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