CHMP4A

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: CHMP4A belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1DNA deamination (GO:0045006)5.11437424
2mitochondrial ATP synthesis coupled proton transport (GO:0042776)5.11133898
3energy coupled proton transport, down electrochemical gradient (GO:0015985)4.70681932
4ATP synthesis coupled proton transport (GO:0015986)4.70681932
5cytidine deamination (GO:0009972)4.50782806
6cytidine metabolic process (GO:0046087)4.50782806
7cytidine catabolic process (GO:0006216)4.50782806
8mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.26431928
9establishment of protein localization to mitochondrial membrane (GO:0090151)4.06031678
10respiratory electron transport chain (GO:0022904)4.01116138
11electron transport chain (GO:0022900)3.96778836
12protein complex biogenesis (GO:0070271)3.93702756
13pyrimidine ribonucleoside catabolic process (GO:0046133)3.87463486
14regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450913.72269259
15chaperone-mediated protein transport (GO:0072321)3.71445838
16protein neddylation (GO:0045116)3.62290632
17mitochondrial respiratory chain complex assembly (GO:0033108)3.57573529
18response to interferon-beta (GO:0035456)3.55245258
19mitochondrial respiratory chain complex I assembly (GO:0032981)3.47455936
20NADH dehydrogenase complex assembly (GO:0010257)3.47455936
21mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.47455936
22regulation of cellular amino acid metabolic process (GO:0006521)3.45823890
23proteasome assembly (GO:0043248)3.41594821
24DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.40489847
25cytochrome complex assembly (GO:0017004)3.31362956
26antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:3.28360394
27signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.26896562
28signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.26896562
29signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.26896562
30negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.26768621
31intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.24443575
32signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.24443575
33ribosomal small subunit assembly (GO:0000028)3.20257867
34antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)3.18010881
35respiratory chain complex IV assembly (GO:0008535)3.14147329
36rRNA modification (GO:0000154)3.09448492
37signal transduction involved in DNA damage checkpoint (GO:0072422)3.06340135
38signal transduction involved in DNA integrity checkpoint (GO:0072401)3.06340135
39regulation of B cell receptor signaling pathway (GO:0050855)3.04479253
40signal transduction involved in cell cycle checkpoint (GO:0072395)3.01958955
41positive regulation of defense response to virus by host (GO:0002230)3.01822672
42positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)2.99877417
43platelet dense granule organization (GO:0060155)2.99591640
44hydrogen ion transmembrane transport (GO:1902600)2.98732799
45cellular response to zinc ion (GO:0071294)2.97796513
46purine deoxyribonucleoside triphosphate metabolic process (GO:0009215)2.89403238
47negative regulation of ubiquitin-protein transferase activity (GO:0051444)2.88781218
48negative regulation of ligase activity (GO:0051352)2.88781218
49viral transcription (GO:0019083)2.83645070
50ribosomal small subunit biogenesis (GO:0042274)2.81920191
51nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.79842749
52proton transport (GO:0015992)2.79037467
53regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)2.77994539
54cellular response to interferon-beta (GO:0035458)2.77205409
55SRP-dependent cotranslational protein targeting to membrane (GO:0006614)2.76670840
56pseudouridine synthesis (GO:0001522)2.74500522
57mannosylation (GO:0097502)2.74240683
58hydrogen transport (GO:0006818)2.73524005
59cotranslational protein targeting to membrane (GO:0006613)2.73153054
60translational termination (GO:0006415)2.71961986
61positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)2.71085625
62purine nucleoside triphosphate biosynthetic process (GO:0009145)2.70571631
63* protein targeting to ER (GO:0045047)2.70555204
64maturation of SSU-rRNA (GO:0030490)2.69033657
65mast cell activation (GO:0045576)2.68646375
66deoxyribonucleoside triphosphate metabolic process (GO:0009200)2.68389589
67ATP biosynthetic process (GO:0006754)2.67683452
68exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.67644069
69negative T cell selection (GO:0043383)2.66494800
70cellular response to interleukin-15 (GO:0071350)2.66223132
71regulation of antigen processing and presentation of peptide antigen (GO:0002583)2.64994858
72purine ribonucleoside triphosphate biosynthetic process (GO:0009206)2.64790544
73regulation of chronic inflammatory response (GO:0002676)2.64479972
74tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.59038897
75RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.59038897
76* protein localization to endoplasmic reticulum (GO:0070972)2.58936490
77antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)2.58622272
78positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.57794190
79protein targeting to mitochondrion (GO:0006626)2.57679588
80regulation of regulatory T cell differentiation (GO:0045589)2.57317283
81DNA damage response, signal transduction by p53 class mediator (GO:0030330)2.57098301
82water-soluble vitamin biosynthetic process (GO:0042364)2.56995605
83GTP biosynthetic process (GO:0006183)2.55629668
84immunoglobulin mediated immune response (GO:0016064)2.55622564
85* establishment of protein localization to endoplasmic reticulum (GO:0072599)2.54638342
86positive regulation of T cell mediated cytotoxicity (GO:0001916)2.53162211
87establishment of protein localization to mitochondrion (GO:0072655)2.52702146
88positive regulation of ligase activity (GO:0051351)2.51478697
89regulation of T cell mediated cytotoxicity (GO:0001914)2.51029404
90termination of RNA polymerase III transcription (GO:0006386)2.50048425
91transcription elongation from RNA polymerase III promoter (GO:0006385)2.50048425
92positive regulation of cell cycle arrest (GO:0071158)2.50002501
93positive regulation of calcium-mediated signaling (GO:0050850)2.49007164
94regulation of cellular amine metabolic process (GO:0033238)2.48936197
95negative regulation of telomere maintenance (GO:0032205)2.47488140
96translational elongation (GO:0006414)2.46960001
97anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:02.43515537
98rRNA methylation (GO:0031167)2.42707412
99negative thymic T cell selection (GO:0045060)2.42095542
100translation (GO:0006412)2.41150656

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_22096565_ChIP-ChIP_GC-B_Human4.70053041
2GABP_17652178_ChIP-ChIP_JURKAT_Human4.22509108
3* KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.99377554
4EST1_17652178_ChIP-ChIP_JURKAT_Human3.83816381
5E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.82115107
6BP1_19119308_ChIP-ChIP_Hs578T_Human3.61832152
7JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.25735823
8ELF1_17652178_ChIP-ChIP_JURKAT_Human3.21213115
9NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.19934477
10FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse3.03423320
11IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.98675519
12IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.90905537
13HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.84304764
14ETS1_20019798_ChIP-Seq_JURKAT_Human2.75584489
15VDR_23849224_ChIP-Seq_CD4+_Human2.72030650
16SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.71577169
17IRF8_21731497_ChIP-ChIP_J774_Mouse2.51810356
18SRF_21415370_ChIP-Seq_HL-1_Mouse2.30605869
19CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.29280042
20HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.26858663
21FOXP3_21729870_ChIP-Seq_TREG_Human2.26115776
22SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.05182370
23PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.00545746
24STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.99331349
25CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.99312593
26FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.96053335
27NOTCH1_21737748_ChIP-Seq_TLL_Human1.95767532
28CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.92505437
29CREB1_15753290_ChIP-ChIP_HEK293T_Human1.89193410
30SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.80910194
31ELK1_19687146_ChIP-ChIP_HELA_Human1.77792938
32ZNF274_21170338_ChIP-Seq_K562_Hela1.77258070
33LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.65618257
34CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.61388508
35GATA3_26560356_Chip-Seq_TH2_Human1.60567836
36STAT4_19710469_ChIP-ChIP_TH1__Mouse1.59194577
37MYB_26560356_Chip-Seq_TH2_Human1.54828115
38HOXB4_20404135_ChIP-ChIP_EML_Mouse1.50931028
39MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.49682980
40* SPI1_23547873_ChIP-Seq_NB4_Human1.48739806
41VDR_22108803_ChIP-Seq_LS180_Human1.47791282
42YY1_21170310_ChIP-Seq_MESCs_Mouse1.43105060
43RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.41615836
44MYC_18940864_ChIP-ChIP_HL60_Human1.39290921
45EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.38128063
46MYC_18358816_ChIP-ChIP_MESCs_Mouse1.36260898
47DCP1A_22483619_ChIP-Seq_HELA_Human1.35990285
48FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.35510422
49HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.35251468
50CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.34313871
51* GABP_19822575_ChIP-Seq_HepG2_Human1.31751723
52CIITA_25753668_ChIP-Seq_RAJI_Human1.25253368
53FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.24200158
54PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse1.22851182
55TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.21064471
56GATA3_27048872_Chip-Seq_THYMUS_Human1.20633207
57EGR1_23403033_ChIP-Seq_LIVER_Mouse1.20064088
58PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.16223474
59RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.15745323
60EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.14899223
61MYC_18555785_ChIP-Seq_MESCs_Mouse1.14792224
62MYB_26560356_Chip-Seq_TH1_Human1.13115471
63FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.13007671
64BCL6_27268052_Chip-Seq_Bcells_Human1.10378293
65RUNX_20019798_ChIP-Seq_JUKART_Human1.09519651
66NANOG_20526341_ChIP-Seq_ESCs_Human1.07654487
67EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.07114333
68AR_20517297_ChIP-Seq_VCAP_Human1.06933949
69FOXA1_25329375_ChIP-Seq_VCAP_Human1.06183942
70FOXA1_27270436_Chip-Seq_PROSTATE_Human1.06183942
71STAT1_20625510_ChIP-Seq_HELA_Human1.05223763
72FLI1_27457419_Chip-Seq_LIVER_Mouse1.03954053
73* TP53_22573176_ChIP-Seq_HFKS_Human1.03311247
74IGF1R_20145208_ChIP-Seq_DFB_Human1.01441574
75MYC_19829295_ChIP-Seq_ESCs_Human0.99878845
76THAP11_20581084_ChIP-Seq_MESCs_Mouse0.99558927
77LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.99448785
78ELK1_22589737_ChIP-Seq_MCF10A_Human0.98951091
79ERG_20517297_ChIP-Seq_VCAP_Human0.98423243
80CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.97219348
81E2F1_18555785_ChIP-Seq_MESCs_Mouse0.94749354
82P300_27268052_Chip-Seq_Bcells_Human0.94518355
83MEIS1_20887958_ChIP-Seq_HPC-7_Mouse0.93982593
84ERA_21632823_ChIP-Seq_H3396_Human0.93659192
85GATA3_21878914_ChIP-Seq_MCF-7_Human0.93165354
86MAF_26560356_Chip-Seq_TH2_Human0.92835224
87NCOR_22424771_ChIP-Seq_293T_Human0.92523000
88IRF8_27001747_Chip-Seq_BMDM_Mouse0.92335318
89MECOM_23826213_ChIP-Seq_KASUMI_Mouse0.92132476
90GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.91471949
91CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.89913192
92SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.89793005
93TTF2_22483619_ChIP-Seq_HELA_Human0.89738930
94MYC_19030024_ChIP-ChIP_MESCs_Mouse0.89337806
95GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.88066085
96BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.87873547
97XRN2_22483619_ChIP-Seq_HELA_Human0.86287602
98HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.85919225
99VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human0.85880757
100ZFP42_18358816_ChIP-ChIP_MESCs_Mouse0.84305209

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003806_abnormal_nucleotide_metabolis4.05892844
2MP0005671_abnormal_response_to4.02414101
3MP0001835_abnormal_antigen_presentation3.03717817
4MP0009785_altered_susceptibility_to2.96806280
5MP0002148_abnormal_hypersensitivity_rea2.64152853
6MP0000685_abnormal_immune_system2.58110573
7MP0001800_abnormal_humoral_immune2.56594055
8MP0001790_abnormal_immune_system2.52491053
9MP0005387_immune_system_phenotype2.52491053
10MP0005000_abnormal_immune_tolerance2.38842754
11MP0003763_abnormal_thymus_physiology2.27754483
12MP0003724_increased_susceptibility_to2.26573252
13MP0005025_abnormal_response_to2.23681625
14MP0002723_abnormal_immune_serum2.17875749
15MP0002420_abnormal_adaptive_immunity2.09984686
16MP0002452_abnormal_antigen_presenting2.09117090
17MP0009333_abnormal_splenocyte_physiolog2.08942601
18MP0001819_abnormal_immune_cell2.06114210
19MP0006082_CNS_inflammation1.94756277
20MP0003436_decreased_susceptibility_to1.94412730
21MP0005075_abnormal_melanosome_morpholog1.92539332
22MP0006036_abnormal_mitochondrial_physio1.83461515
23MP0002132_abnormal_respiratory_system1.76931829
24MP0002277_abnormal_respiratory_mucosa1.76098711
25MP0003186_abnormal_redox_activity1.73536586
26MP0002419_abnormal_innate_immunity1.72727007
27MP0001853_heart_inflammation1.69224942
28MP0006072_abnormal_retinal_apoptosis1.65656850
29MP0003011_delayed_dark_adaptation1.62581576
30MP0001845_abnormal_inflammatory_respons1.60974683
31MP0002405_respiratory_system_inflammati1.60404415
32MP0002837_dystrophic_cardiac_calcinosis1.59139568
33MP0009764_decreased_sensitivity_to1.57637764
34MP0000716_abnormal_immune_system1.57236052
35MP0001764_abnormal_homeostasis1.52075661
36MP0000372_irregular_coat_pigmentation1.51091475
37MP0002138_abnormal_hepatobiliary_system1.49159692
38MP0002398_abnormal_bone_marrow1.48956072
39MP0005084_abnormal_gallbladder_morpholo1.44581181
40MP0003195_calcinosis1.43503305
41MP0000689_abnormal_spleen_morphology1.39778146
42MP0001905_abnormal_dopamine_level1.35569689
43MP0002163_abnormal_gland_morphology1.35151355
44MP0008469_abnormal_protein_level1.32412151
45MP0002139_abnormal_hepatobiliary_system1.30413589
46MP0008872_abnormal_physiological_respon1.28746615
47MP0008058_abnormal_DNA_repair1.26483629
48MP0002166_altered_tumor_susceptibility1.26005314
49MP0008875_abnormal_xenobiotic_pharmacok1.25001876
50MP0002429_abnormal_blood_cell1.24689193
51MP0002722_abnormal_immune_system1.23421347
52MP0003646_muscle_fatigue1.22839653
53MP0010155_abnormal_intestine_physiology1.21822839
54MP0001873_stomach_inflammation1.17653344
55MP0002876_abnormal_thyroid_physiology1.16506819
56MP0003866_abnormal_defecation1.16030646
57MP0000703_abnormal_thymus_morphology1.12792589
58MP0005253_abnormal_eye_physiology1.09821224
59MP0010386_abnormal_urinary_bladder1.09409376
60MP0005379_endocrine/exocrine_gland_phen1.08700883
61MP0002006_tumorigenesis1.08546304
62MP0005310_abnormal_salivary_gland1.08222170
63MP0001968_abnormal_touch/_nociception1.08156562
64MP0003786_premature_aging1.07062454
65MP0004147_increased_porphyrin_level1.06962857
66MP0001533_abnormal_skeleton_physiology1.05508250
67MP0005410_abnormal_fertilization1.03682984
68MP0001919_abnormal_reproductive_system0.99373142
69MP0006035_abnormal_mitochondrial_morpho0.99195149
70MP0002693_abnormal_pancreas_physiology0.99002067
71MP0002736_abnormal_nociception_after0.97626996
72MP0005551_abnormal_eye_electrophysiolog0.97330297
73MP0004381_abnormal_hair_follicle0.94434861
74MP0002102_abnormal_ear_morphology0.92772468
75MP0005646_abnormal_pituitary_gland0.91264136
76MP0003172_abnormal_lysosome_physiology0.91232788
77MP0005464_abnormal_platelet_physiology0.88642162
78MP0002933_joint_inflammation0.87928419
79MP0001986_abnormal_taste_sensitivity0.86872844
80MP0005174_abnormal_tail_pigmentation0.86360526
81MP0002638_abnormal_pupillary_reflex0.85653351
82MP0000343_altered_response_to0.85104198
83MP0005167_abnormal_blood-brain_barrier0.85058087
84MP0005645_abnormal_hypothalamus_physiol0.84509195
85MP0008877_abnormal_DNA_methylation0.84274682
86MP0003693_abnormal_embryo_hatching0.81261379
87MP0004142_abnormal_muscle_tone0.81237322
88MP0003136_yellow_coat_color0.80812233
89MP0001501_abnormal_sleep_pattern0.79929525
90MP0005389_reproductive_system_phenotype0.79738512
91MP0009763_increased_sensitivity_to0.77923510
92MP0009379_abnormal_foot_pigmentation0.77551177
93MP0005166_decreased_susceptibility_to0.77427187
94MP0001984_abnormal_olfaction0.77242882
95MP0005636_abnormal_mineral_homeostasis0.76877210
96MP0002653_abnormal_ependyma_morphology0.75986441
97MP0002095_abnormal_skin_pigmentation0.74227568
98MP0003075_altered_response_to0.72141955
99MP0005058_abnormal_lysosome_morphology0.71899672
100MP0008873_increased_physiological_sensi0.71245201

Predicted human phenotypes

RankGene SetZ-score
1Mitochondrial inheritance (HP:0001427)4.34423645
2Acute necrotizing encephalopathy (HP:0006965)4.26938780
3Lipid accumulation in hepatocytes (HP:0006561)4.09660666
4Abnormal mitochondria in muscle tissue (HP:0008316)3.96058541
53-Methylglutaconic aciduria (HP:0003535)3.95768660
6Increased hepatocellular lipid droplets (HP:0006565)3.87049832
7Increased CSF lactate (HP:0002490)3.86241389
8Acute encephalopathy (HP:0006846)3.78882249
9Hepatocellular necrosis (HP:0001404)3.62206489
10Progressive macrocephaly (HP:0004481)3.56146280
11Renal Fanconi syndrome (HP:0001994)3.50470667
12Hepatic necrosis (HP:0002605)3.44350782
13Increased intramyocellular lipid droplets (HP:0012240)3.43790919
14Decreased activity of mitochondrial respiratory chain (HP:0008972)3.40315447
15Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.40315447
16Increased muscle lipid content (HP:0009058)3.34233611
17Stomatitis (HP:0010280)3.32899207
18Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)3.27970986
19IgG deficiency (HP:0004315)3.21154862
20Elevated erythrocyte sedimentation rate (HP:0003565)3.08376918
21Exertional dyspnea (HP:0002875)3.04637554
22Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.90708181
23Abnormal number of erythroid precursors (HP:0012131)2.78061325
24Aplastic anemia (HP:0001915)2.66661624
25Severe combined immunodeficiency (HP:0004430)2.66271217
26Lactic acidosis (HP:0003128)2.62567750
27Pancreatic cysts (HP:0001737)2.61453916
28Type I transferrin isoform profile (HP:0003642)2.60085056
29Cerebral edema (HP:0002181)2.59699925
30Abnormality of T cell number (HP:0011839)2.59261811
31T lymphocytopenia (HP:0005403)2.53963407
32Increased serum lactate (HP:0002151)2.50793753
33Abnormality of B cell number (HP:0010975)2.48669897
34Abnormality of cells of the erythroid lineage (HP:0012130)2.48025724
35Increased IgM level (HP:0003496)2.46809204
36Optic disc pallor (HP:0000543)2.45336958
37Abnormality of T cells (HP:0002843)2.45253112
38Abnormal delayed hypersensitivity skin test (HP:0002963)2.42870715
39Congenital stationary night blindness (HP:0007642)2.41760775
40Eosinophilia (HP:0001880)2.41407310
41Generalized aminoaciduria (HP:0002909)2.39816751
42Respiratory difficulties (HP:0002880)2.35959124
43Respiratory failure (HP:0002878)2.34242963
44Abnormality of eosinophils (HP:0001879)2.31490079
45B lymphocytopenia (HP:0010976)2.31387771
46IgM deficiency (HP:0002850)2.31029252
47Panhypogammaglobulinemia (HP:0003139)2.28997161
48Reduced antithrombin III activity (HP:0001976)2.27236028
49Abnormality of renal resorption (HP:0011038)2.25938294
50Abnormality of the prostate (HP:0008775)2.22909656
51Abnormal protein glycosylation (HP:0012346)2.22347046
52Abnormal glycosylation (HP:0012345)2.22347046
53Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.22347046
54Abnormal protein N-linked glycosylation (HP:0012347)2.22347046
55Exercise intolerance (HP:0003546)2.21025469
56Abnormal rod and cone electroretinograms (HP:0008323)2.18998082
57Lethargy (HP:0001254)2.18850587
58Combined immunodeficiency (HP:0005387)2.17808318
59Recurrent fungal infections (HP:0002841)2.17398967
60Abnormality of dicarboxylic acid metabolism (HP:0010995)2.16576327
61Dicarboxylic aciduria (HP:0003215)2.16576327
62Pancytopenia (HP:0001876)2.15034661
63Autoimmune hemolytic anemia (HP:0001890)2.13080170
64Chronic sinusitis (HP:0011109)2.12450827
65Congenital, generalized hypertrichosis (HP:0004540)2.11075943
66Absent rod-and cone-mediated responses on ERG (HP:0007688)2.09893060
67Thyroiditis (HP:0100646)2.09369013
68Abolished electroretinogram (ERG) (HP:0000550)2.08969041
69Methylmalonic aciduria (HP:0012120)2.08745008
70Glycosuria (HP:0003076)2.07967705
71Abnormality of urine glucose concentration (HP:0011016)2.07967705
72Mediastinal lymphadenopathy (HP:0100721)2.07100788
73Agammaglobulinemia (HP:0004432)2.06505777
74Encephalitis (HP:0002383)2.06460036
75Granulocytopenia (HP:0001913)2.06246838
76Abnormality of T cell physiology (HP:0011840)2.05961704
77Meningitis (HP:0001287)2.04115291
78Aplasia/hypoplasia of the uterus (HP:0008684)2.04004512
79True hermaphroditism (HP:0010459)2.03422770
80Pulmonary infiltrates (HP:0002113)2.03233497
81Pancreatic fibrosis (HP:0100732)2.01597569
82Retrobulbar optic neuritis (HP:0100654)1.98942812
83Optic neuritis (HP:0100653)1.98942812
84Chronic obstructive pulmonary disease (HP:0006510)1.97118908
85Obstructive lung disease (HP:0006536)1.97118908
86Oral leukoplakia (HP:0002745)1.96457457
87Recurrent cutaneous fungal infections (HP:0011370)1.94526319
88Chronic mucocutaneous candidiasis (HP:0002728)1.94526319
89Autoimmune thrombocytopenia (HP:0001973)1.93899231
90Myositis (HP:0100614)1.89696340
91Neutropenia (HP:0001875)1.89587122
92Hypoproteinemia (HP:0003075)1.89075023
93CNS demyelination (HP:0007305)1.88369571
94Vacuolated lymphocytes (HP:0001922)1.87481201
95Renal cortical cysts (HP:0000803)1.86022906
96Hypothermia (HP:0002045)1.85767410
97Leukocytosis (HP:0001974)1.84701127
98Abnormality of midbrain morphology (HP:0002418)1.84622112
99Molar tooth sign on MRI (HP:0002419)1.84622112
100Vasculitis (HP:0002633)1.84320629

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TXK3.77959001
2VRK23.76785542
3TAOK33.42193894
4ZAK2.77982610
5TESK22.70993595
6PINK12.69479349
7MAP4K12.60827128
8ADRBK22.51035603
9TLK12.49895394
10MST42.31946414
11NME22.27278719
12MAP4K22.17212761
13MARK32.13169966
14KDR2.09789015
15NUAK12.04678942
16GRK12.01414393
17STK161.95538386
18VRK11.89453364
19FRK1.81706844
20BCKDK1.81629265
21BMPR1B1.81017996
22NME11.66298164
23IKBKB1.54998733
24EIF2AK31.47331883
25ITK1.38754819
26SYK1.31522660
27MAPKAPK31.30698477
28KIT1.30464295
29RIPK41.27248574
30FES1.26062429
31PRKCQ1.25276527
32IKBKE1.21010165
33GRK61.17435602
34MAP3K121.14455926
35TYK21.12970966
36TEC1.08221818
37TNK21.08186507
38BTK1.07766664
39WNK31.03400328
40DYRK21.02190739
41LYN0.97860204
42MATK0.93984814
43NLK0.93345669
44GRK70.89905284
45MYLK0.89612284
46RPS6KA50.88814864
47EIF2AK10.88010959
48IRAK40.87685961
49CSNK1G30.84718379
50TBK10.84317452
51MAP3K110.84296656
52PDK20.81797815
53LCK0.81254353
54TIE10.75515637
55BUB10.75435764
56CSK0.75124273
57SRPK10.72612980
58CAMKK20.71581330
59BLK0.70858521
60ZAP700.70121325
61CSF1R0.66134443
62MAP2K70.65627794
63CSNK1A1L0.64390629
64PIM20.62926852
65DAPK10.60416849
66CSNK1G10.59356180
67MAP3K140.59286204
68MAP2K60.58852427
69TGFBR10.57806161
70JAK30.54811456
71INSRR0.54126437
72OXSR10.53012374
73CSNK1G20.52559694
74RPS6KA40.52162210
75PIM10.51058020
76FGR0.50414588
77GRK50.49299405
78ADRBK10.48624534
79CSNK2A10.47724134
80WNK40.46603578
81MAPKAPK50.45975820
82TESK10.44731328
83ACVR1B0.42155942
84CSNK2A20.39089867
85CSNK1A10.38562743
86MAPK150.37983315
87CDC70.37132669
88JAK10.36708802
89MAP3K50.35257820
90HCK0.34587183
91MAP2K20.33834538
92MAPK130.32744735
93PLK30.32084247
94MUSK0.30839175
95IGF1R0.30565133
96ILK0.30223792
97CDK30.29410585
98NEK20.28850694
99PRKCD0.28227368
100ABL10.27917099

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030504.42551692
2Oxidative phosphorylation_Homo sapiens_hsa001903.90350402
3Parkinsons disease_Homo sapiens_hsa050123.25161166
4Ribosome_Homo sapiens_hsa030103.18241193
5Primary immunodeficiency_Homo sapiens_hsa053403.16853650
6Allograft rejection_Homo sapiens_hsa053302.46346914
7Graft-versus-host disease_Homo sapiens_hsa053322.40941910
8Autoimmune thyroid disease_Homo sapiens_hsa053202.40523916
9Protein export_Homo sapiens_hsa030602.37884977
10Asthma_Homo sapiens_hsa053102.25321321
11Type I diabetes mellitus_Homo sapiens_hsa049402.15732868
12Intestinal immune network for IgA production_Homo sapiens_hsa046722.10654755
13Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.09556340
14Alzheimers disease_Homo sapiens_hsa050102.08295615
15Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.00360789
16RNA polymerase_Homo sapiens_hsa030202.00349606
17Huntingtons disease_Homo sapiens_hsa050161.96100125
18Antigen processing and presentation_Homo sapiens_hsa046121.82672792
19Rheumatoid arthritis_Homo sapiens_hsa053231.56661149
20Homologous recombination_Homo sapiens_hsa034401.53003229
21Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.51854837
22Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.46809556
23Hematopoietic cell lineage_Homo sapiens_hsa046401.44797967
24Phototransduction_Homo sapiens_hsa047441.44347270
25Staphylococcus aureus infection_Homo sapiens_hsa051501.34959007
26Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.30743238
27Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.25464204
28SNARE interactions in vesicular transport_Homo sapiens_hsa041301.21518919
29Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.21430923
30Pyrimidine metabolism_Homo sapiens_hsa002401.19261994
31Butanoate metabolism_Homo sapiens_hsa006501.16623016
32NF-kappa B signaling pathway_Homo sapiens_hsa040641.14763353
33Collecting duct acid secretion_Homo sapiens_hsa049661.12045703
34Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.10671828
35Cardiac muscle contraction_Homo sapiens_hsa042601.10557187
36Peroxisome_Homo sapiens_hsa041461.09337468
37DNA replication_Homo sapiens_hsa030301.06215101
38Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.98407352
39RNA degradation_Homo sapiens_hsa030180.95923769
40Mismatch repair_Homo sapiens_hsa034300.94590164
41Purine metabolism_Homo sapiens_hsa002300.89324179
42Propanoate metabolism_Homo sapiens_hsa006400.87723009
43Glutathione metabolism_Homo sapiens_hsa004800.87116607
44Spliceosome_Homo sapiens_hsa030400.86183522
45Nitrogen metabolism_Homo sapiens_hsa009100.85488924
46Nucleotide excision repair_Homo sapiens_hsa034200.83896076
47One carbon pool by folate_Homo sapiens_hsa006700.83022478
48Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.80557701
49Basal transcription factors_Homo sapiens_hsa030220.77344107
50Sulfur metabolism_Homo sapiens_hsa009200.76974237
51Fanconi anemia pathway_Homo sapiens_hsa034600.75574100
52Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.74652172
53T cell receptor signaling pathway_Homo sapiens_hsa046600.73333166
54Chemical carcinogenesis_Homo sapiens_hsa052040.73074817
55alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.72857700
56Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.72156440
57Herpes simplex infection_Homo sapiens_hsa051680.71571916
58Base excision repair_Homo sapiens_hsa034100.71534588
59Measles_Homo sapiens_hsa051620.69618857
60Fatty acid elongation_Homo sapiens_hsa000620.69123117
61Regulation of autophagy_Homo sapiens_hsa041400.68479205
62Leishmaniasis_Homo sapiens_hsa051400.67838615
63Linoleic acid metabolism_Homo sapiens_hsa005910.66363127
64Viral myocarditis_Homo sapiens_hsa054160.65268930
65Tryptophan metabolism_Homo sapiens_hsa003800.64454231
66Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.64051025
67Arachidonic acid metabolism_Homo sapiens_hsa005900.62958194
68NOD-like receptor signaling pathway_Homo sapiens_hsa046210.62051158
69Olfactory transduction_Homo sapiens_hsa047400.60729979
70Systemic lupus erythematosus_Homo sapiens_hsa053220.60020979
71Maturity onset diabetes of the young_Homo sapiens_hsa049500.58763694
72Metabolic pathways_Homo sapiens_hsa011000.58399255
73Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.58236580
74Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.57137261
75RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.53847871
76Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.53672484
77Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.52862354
78Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.52614989
79Mineral absorption_Homo sapiens_hsa049780.52558601
80Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.50068583
81Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.49177360
82Epstein-Barr virus infection_Homo sapiens_hsa051690.48578413
83Tuberculosis_Homo sapiens_hsa051520.48373775
84Folate biosynthesis_Homo sapiens_hsa007900.47066017
85Lysosome_Homo sapiens_hsa041420.46547592
86Selenocompound metabolism_Homo sapiens_hsa004500.44194178
87Phagosome_Homo sapiens_hsa041450.44179950
88Non-homologous end-joining_Homo sapiens_hsa034500.41967951
89Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.41372949
90Legionellosis_Homo sapiens_hsa051340.38873605
91Pentose and glucuronate interconversions_Homo sapiens_hsa000400.37747768
92Ether lipid metabolism_Homo sapiens_hsa005650.37672567
93Malaria_Homo sapiens_hsa051440.37216670
94Pertussis_Homo sapiens_hsa051330.36663445
95Drug metabolism - other enzymes_Homo sapiens_hsa009830.36395360
96Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.35483060
97Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.35046575
98Toll-like receptor signaling pathway_Homo sapiens_hsa046200.34805820
99Caffeine metabolism_Homo sapiens_hsa002320.33864816
100Retinol metabolism_Homo sapiens_hsa008300.33158433

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