COMMD3-BMI1

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 COMM domain-containing protein 3 and polycomb complex protein BMI-1 genes on chromosome 10. The read-through transcript produces 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
1DNA deamination (GO:0045006)5.17074947
2mitochondrial ATP synthesis coupled proton transport (GO:0042776)5.05908201
3proteasome assembly (GO:0043248)4.52416968
4energy coupled proton transport, down electrochemical gradient (GO:0015985)4.38179677
5ATP synthesis coupled proton transport (GO:0015986)4.38179677
6mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.32099192
7protein complex biogenesis (GO:0070271)4.21995069
8sequestering of actin monomers (GO:0042989)4.10942640
9respiratory electron transport chain (GO:0022904)4.04712008
10electron transport chain (GO:0022900)4.00959666
11cytidine catabolic process (GO:0006216)3.97322614
12cytidine deamination (GO:0009972)3.97322614
13cytidine metabolic process (GO:0046087)3.97322614
14mitochondrial respiratory chain complex assembly (GO:0033108)3.87450959
15mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.67900476
16mitochondrial respiratory chain complex I assembly (GO:0032981)3.67900476
17NADH dehydrogenase complex assembly (GO:0010257)3.67900476
18establishment of protein localization to mitochondrial membrane (GO:0090151)3.61486210
19regulation of cellular amino acid metabolic process (GO:0006521)3.59308902
20platelet dense granule organization (GO:0060155)3.41818848
21respiratory chain complex IV assembly (GO:0008535)3.38238860
22tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.36327901
23RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.36327901
24regulation of antigen processing and presentation of peptide antigen (GO:0002583)3.36254269
25DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.30847357
26pyrimidine ribonucleoside catabolic process (GO:0046133)3.29657923
27cullin deneddylation (GO:0010388)3.28462799
28cytochrome complex assembly (GO:0017004)3.25970346
29positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.25687649
30GPI anchor biosynthetic process (GO:0006506)3.23274334
31protein deneddylation (GO:0000338)3.22516981
32GPI anchor metabolic process (GO:0006505)3.19199806
33signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.18734458
34signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.18734458
35signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.18734458
36signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.18394323
37intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.18394323
38ribonucleoprotein complex disassembly (GO:0032988)3.17821681
39negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.16995242
40axoneme assembly (GO:0035082)3.13112035
41regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450913.10721132
42organelle disassembly (GO:1903008)3.07182915
43preassembly of GPI anchor in ER membrane (GO:0016254)3.05564755
44mismatch repair (GO:0006298)3.04241231
45signal transduction involved in DNA damage checkpoint (GO:0072422)3.00984150
46signal transduction involved in DNA integrity checkpoint (GO:0072401)3.00984150
47signal transduction involved in cell cycle checkpoint (GO:0072395)3.00913553
48mannosylation (GO:0097502)2.98482216
49water-soluble vitamin biosynthetic process (GO:0042364)2.95169641
50regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)2.94180822
51nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.91731639
52protein neddylation (GO:0045116)2.91275650
53behavioral response to nicotine (GO:0035095)2.90198699
54hydrogen ion transmembrane transport (GO:1902600)2.89742829
55positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.88301805
56anterograde synaptic vesicle transport (GO:0048490)2.87434899
57negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)2.85797970
58inositol phosphate catabolic process (GO:0071545)2.85375430
59protein-cofactor linkage (GO:0018065)2.84374816
60positive regulation of interleukin-8 secretion (GO:2000484)2.84109900
61proton transport (GO:0015992)2.82514912
62positive regulation of mitochondrial fission (GO:0090141)2.82076576
63adenosine metabolic process (GO:0046085)2.81236304
64GTP biosynthetic process (GO:0006183)2.81215258
65phosphorylated carbohydrate dephosphorylation (GO:0046838)2.80395713
66inositol phosphate dephosphorylation (GO:0046855)2.80395713
67hydrogen transport (GO:0006818)2.80201175
68regulation of cilium movement (GO:0003352)2.79832673
69L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.79291219
70regulation of glucokinase activity (GO:0033131)2.78771640
71regulation of hexokinase activity (GO:1903299)2.78771640
72positive regulation of ligase activity (GO:0051351)2.77269936
73negative regulation of ligase activity (GO:0051352)2.76505281
74negative regulation of ubiquitin-protein transferase activity (GO:0051444)2.76505281
75protein localization to cilium (GO:0061512)2.76477934
76regulation of interleukin-8 secretion (GO:2000482)2.75784232
77oxidative phosphorylation (GO:0006119)2.74204925
78rRNA modification (GO:0000154)2.74047030
79exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.73663498
80antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:2.72834835
81C-terminal protein lipidation (GO:0006501)2.70875195
82metallo-sulfur cluster assembly (GO:0031163)2.68765473
83iron-sulfur cluster assembly (GO:0016226)2.68765473
84aldehyde catabolic process (GO:0046185)2.67521424
85S-adenosylmethionine metabolic process (GO:0046500)2.67301189
86cellular ketone body metabolic process (GO:0046950)2.66093636
87purine nucleoside triphosphate biosynthetic process (GO:0009145)2.64945543
88transcription elongation from RNA polymerase III promoter (GO:0006385)2.62476887
89termination of RNA polymerase III transcription (GO:0006386)2.62476887
90signal peptide processing (GO:0006465)2.61898695
91anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:02.60907927
92antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)2.60058667
93purine ribonucleoside triphosphate biosynthetic process (GO:0009206)2.59623139
94amino acid salvage (GO:0043102)2.58907470
95L-methionine salvage (GO:0071267)2.58907470
96L-methionine biosynthetic process (GO:0071265)2.58907470
97piRNA metabolic process (GO:0034587)2.57666722
98protein polyglutamylation (GO:0018095)2.55085230
99rRNA methylation (GO:0031167)2.54003066
100dopamine transport (GO:0015872)2.53156203

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1GABP_17652178_ChIP-ChIP_JURKAT_Human3.85330124
2KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.84673366
3FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse3.55336497
4EST1_17652178_ChIP-ChIP_JURKAT_Human3.53010954
5NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.91373813
6HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.90386594
7ELF1_17652178_ChIP-ChIP_JURKAT_Human2.86510998
8ZNF274_21170338_ChIP-Seq_K562_Hela2.82338676
9VDR_23849224_ChIP-Seq_CD4+_Human2.72645886
10ELK1_19687146_ChIP-ChIP_HELA_Human2.68114910
11VDR_22108803_ChIP-Seq_LS180_Human2.62797677
12POU3F2_20337985_ChIP-ChIP_501MEL_Human2.41774020
13SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.33987705
14JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.27915880
15ETS1_20019798_ChIP-Seq_JURKAT_Human2.13309903
16IGF1R_20145208_ChIP-Seq_DFB_Human2.10904665
17FLI1_27457419_Chip-Seq_LIVER_Mouse1.99027722
18ZFP57_27257070_Chip-Seq_ESCs_Mouse1.97247602
19SRF_21415370_ChIP-Seq_HL-1_Mouse1.96638175
20FUS_26573619_Chip-Seq_HEK293_Human1.89053398
21IRF8_22096565_ChIP-ChIP_GC-B_Human1.88985114
22FOXP3_21729870_ChIP-Seq_TREG_Human1.88671736
23EWS_26573619_Chip-Seq_HEK293_Human1.83177280
24CREB1_15753290_ChIP-ChIP_HEK293T_Human1.78202641
25TAF15_26573619_Chip-Seq_HEK293_Human1.72325963
26PADI4_21655091_ChIP-ChIP_MCF-7_Human1.70991507
27CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.67290352
28PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.63813767
29E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.62335286
30MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.60183625
31PCGF2_27294783_Chip-Seq_ESCs_Mouse1.58419558
32CTBP1_25329375_ChIP-Seq_LNCAP_Human1.56153899
33GBX2_23144817_ChIP-Seq_PC3_Human1.51051742
34P300_19829295_ChIP-Seq_ESCs_Human1.50984852
35ER_23166858_ChIP-Seq_MCF-7_Human1.50201831
36IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.47105139
37PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.44651742
38CTBP2_25329375_ChIP-Seq_LNCAP_Human1.44250396
39MYC_18940864_ChIP-ChIP_HL60_Human1.44043597
40TP53_22573176_ChIP-Seq_HFKS_Human1.43357632
41BP1_19119308_ChIP-ChIP_Hs578T_Human1.42079650
42GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.41536265
43EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.40374969
44HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.38923342
45HOXB4_20404135_ChIP-ChIP_EML_Mouse1.38567257
46FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.36693925
47FOXA1_25329375_ChIP-Seq_VCAP_Human1.35388130
48FOXA1_27270436_Chip-Seq_PROSTATE_Human1.35388130
49IRF8_21731497_ChIP-ChIP_J774_Mouse1.33328044
50FOXA1_21572438_ChIP-Seq_LNCaP_Human1.30924101
51IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.29872096
52CBP_20019798_ChIP-Seq_JUKART_Human1.29872096
53NANOG_19829295_ChIP-Seq_ESCs_Human1.29001067
54SOX2_19829295_ChIP-Seq_ESCs_Human1.29001067
55AR_20517297_ChIP-Seq_VCAP_Human1.26812935
56EGR1_23403033_ChIP-Seq_LIVER_Mouse1.26292604
57EZH2_27294783_Chip-Seq_NPCs_Mouse1.26239339
58RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.25781945
59BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.25648268
60HTT_18923047_ChIP-ChIP_STHdh_Human1.25604391
61GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.24687091
62GATA3_26560356_Chip-Seq_TH2_Human1.23933862
63NFE2_27457419_Chip-Seq_LIVER_Mouse1.23778922
64IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.23487925
65SUZ12_27294783_Chip-Seq_NPCs_Mouse1.21861404
66DCP1A_22483619_ChIP-Seq_HELA_Human1.19299719
67IRF1_19129219_ChIP-ChIP_H3396_Human1.18397918
68EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.17285504
69MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.15887538
70ELK1_22589737_ChIP-Seq_MCF10A_Human1.09088796
71NCOR_22424771_ChIP-Seq_293T_Human1.08054542
72PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.05462389
73CRX_20693478_ChIP-Seq_RETINA_Mouse1.04956413
74KLF5_20875108_ChIP-Seq_MESCs_Mouse1.04610324
75UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.03329190
76EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.03304900
77P53_22387025_ChIP-Seq_ESCs_Mouse1.03153085
78NANOG_18555785_Chip-Seq_ESCs_Mouse1.03124741
79STAT3_18555785_Chip-Seq_ESCs_Mouse1.03018117
80BCAT_22108803_ChIP-Seq_LS180_Human1.02424567
81SALL4_22934838_ChIP-ChIP_CD34+_Human1.00131700
82ERG_20517297_ChIP-Seq_VCAP_Human0.99512997
83GABP_19822575_ChIP-Seq_HepG2_Human0.96624343
84AR_25329375_ChIP-Seq_VCAP_Human0.96346680
85CBX2_27304074_Chip-Seq_ESCs_Mouse0.96240028
86CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.94974744
87AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.94565374
88GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.94397292
89FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.93885949
90TTF2_22483619_ChIP-Seq_HELA_Human0.92999518
91TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.92928107
92SUZ12_18555785_Chip-Seq_ESCs_Mouse0.92607762
93GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.92318664
94CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.92210606
95TOP2B_26459242_ChIP-Seq_MCF-7_Human0.92058558
96E2F4_17652178_ChIP-ChIP_JURKAT_Human0.91465924
97CMYC_18555785_Chip-Seq_ESCs_Mouse0.91242283
98PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse0.91131729
99P300_18555785_Chip-Seq_ESCs_Mouse0.90747296
100GATA3_21878914_ChIP-Seq_MCF-7_Human0.90659141

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003806_abnormal_nucleotide_metabolis3.03408201
2MP0005084_abnormal_gallbladder_morpholo2.70767675
3MP0006072_abnormal_retinal_apoptosis2.60639166
4MP0005645_abnormal_hypothalamus_physiol2.56830595
5MP0000372_irregular_coat_pigmentation2.55771213
6MP0005075_abnormal_melanosome_morpholog2.52280222
7MP0003195_calcinosis2.43466912
8MP0002837_dystrophic_cardiac_calcinosis2.40412319
9MP0010386_abnormal_urinary_bladder2.29490273
10MP0001835_abnormal_antigen_presentation2.29397728
11MP0004147_increased_porphyrin_level2.26537379
12MP0005671_abnormal_response_to2.13110270
13MP0006036_abnormal_mitochondrial_physio2.02839822
14MP0002102_abnormal_ear_morphology2.00383463
15MP0008058_abnormal_DNA_repair1.98421849
16MP0004145_abnormal_muscle_electrophysio1.87779062
17MP0004142_abnormal_muscle_tone1.79631653
18MP0009697_abnormal_copulation1.78376441
19MP0000516_abnormal_urinary_system1.77140236
20MP0005367_renal/urinary_system_phenotyp1.77140236
21MP0003880_abnormal_central_pattern1.69412892
22MP0002166_altered_tumor_susceptibility1.69226973
23MP0001529_abnormal_vocalization1.68038124
24MP0005646_abnormal_pituitary_gland1.65415538
25MP0009785_altered_susceptibility_to1.62493176
26MP0005253_abnormal_eye_physiology1.60299900
27MP0002638_abnormal_pupillary_reflex1.54150768
28MP0002876_abnormal_thyroid_physiology1.53475815
29MP0003186_abnormal_redox_activity1.53188253
30MP0008872_abnormal_physiological_respon1.52506400
31MP0000569_abnormal_digit_pigmentation1.50643520
32MP0001905_abnormal_dopamine_level1.49831580
33MP0005410_abnormal_fertilization1.48644293
34MP0005551_abnormal_eye_electrophysiolog1.47145520
35MP0001968_abnormal_touch/_nociception1.46109907
36MP0003786_premature_aging1.44537046
37MP0008875_abnormal_xenobiotic_pharmacok1.43473395
38MP0005379_endocrine/exocrine_gland_phen1.41192438
39MP0002006_tumorigenesis1.34768897
40MP0002234_abnormal_pharynx_morphology1.34531075
41MP0001984_abnormal_olfaction1.34232038
42MP0008789_abnormal_olfactory_epithelium1.33126258
43MP0002822_catalepsy1.33093518
44MP0008877_abnormal_DNA_methylation1.28554202
45MP0008995_early_reproductive_senescence1.28062408
46MP0002138_abnormal_hepatobiliary_system1.27022813
47MP0002163_abnormal_gland_morphology1.25484710
48MP0006276_abnormal_autonomic_nervous1.22387180
49MP0002139_abnormal_hepatobiliary_system1.19391908
50MP0003011_delayed_dark_adaptation1.18129051
51MP0005332_abnormal_amino_acid1.16450337
52MP0002148_abnormal_hypersensitivity_rea1.14591558
53MP0002909_abnormal_adrenal_gland1.08943652
54MP0009333_abnormal_splenocyte_physiolog1.07615973
55MP0002928_abnormal_bile_duct1.07432838
56MP0009046_muscle_twitch1.07418954
57MP0005670_abnormal_white_adipose1.06237807
58MP0003718_maternal_effect1.04629215
59MP0001800_abnormal_humoral_immune1.04335805
60MP0003646_muscle_fatigue1.03850294
61MP0002736_abnormal_nociception_after1.03840716
62MP0005174_abnormal_tail_pigmentation1.03540403
63MP0003252_abnormal_bile_duct1.02685740
64MP0005636_abnormal_mineral_homeostasis1.01186394
65MP0009764_decreased_sensitivity_to1.01040036
66MP0002693_abnormal_pancreas_physiology1.00517168
67MP0002735_abnormal_chemical_nociception1.00191594
68MP0002095_abnormal_skin_pigmentation0.94615623
69MP0006035_abnormal_mitochondrial_morpho0.93002545
70MP0002938_white_spotting0.92032852
71MP0002272_abnormal_nervous_system0.91910279
72MP0001986_abnormal_taste_sensitivity0.91623406
73MP0001764_abnormal_homeostasis0.91561042
74MP0003787_abnormal_imprinting0.91236707
75MP0002751_abnormal_autonomic_nervous0.90437031
76MP0001756_abnormal_urination0.90257403
77MP0002277_abnormal_respiratory_mucosa0.88824265
78MP0002723_abnormal_immune_serum0.87507857
79MP0001929_abnormal_gametogenesis0.86897810
80MP0005085_abnormal_gallbladder_physiolo0.84497255
81MP0005000_abnormal_immune_tolerance0.83139733
82MP0009745_abnormal_behavioral_response0.81714790
83MP0000685_abnormal_immune_system0.81541077
84MP0002452_abnormal_antigen_presenting0.81240087
85MP0005386_behavior/neurological_phenoty0.79651202
86MP0004924_abnormal_behavior0.79651202
87MP0001970_abnormal_pain_threshold0.79064530
88MP0005220_abnormal_exocrine_pancreas0.78399207
89MP0000631_abnormal_neuroendocrine_gland0.77279627
90MP0005389_reproductive_system_phenotype0.72968496
91MP0000013_abnormal_adipose_tissue0.72336963
92MP0005394_taste/olfaction_phenotype0.71383766
93MP0005499_abnormal_olfactory_system0.71383766
94MP0002420_abnormal_adaptive_immunity0.69791282
95MP0001819_abnormal_immune_cell0.69213889
96MP0001790_abnormal_immune_system0.68697772
97MP0005387_immune_system_phenotype0.68697772
98MP0004215_abnormal_myocardial_fiber0.68099630
99MP0002090_abnormal_vision0.64772366
100MP0003045_fibrosis0.64772157

Predicted human phenotypes

RankGene SetZ-score
1Mitochondrial inheritance (HP:0001427)4.65026800
2Acute necrotizing encephalopathy (HP:0006965)4.62496984
3Hepatocellular necrosis (HP:0001404)4.42038094
4Hepatic necrosis (HP:0002605)4.38689125
5Abnormal mitochondria in muscle tissue (HP:0008316)4.24230966
6Increased hepatocellular lipid droplets (HP:0006565)4.22156683
7Progressive macrocephaly (HP:0004481)4.20667412
8Increased CSF lactate (HP:0002490)4.08408787
9Acute encephalopathy (HP:0006846)4.00884820
10Lipid accumulation in hepatocytes (HP:0006561)3.91988278
11Increased intramyocellular lipid droplets (HP:0012240)3.71975591
12Renal Fanconi syndrome (HP:0001994)3.48236517
13Decreased activity of mitochondrial respiratory chain (HP:0008972)3.44885559
14Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.44885559
153-Methylglutaconic aciduria (HP:0003535)3.44733531
16Hypothermia (HP:0002045)3.36391298
17Increased muscle lipid content (HP:0009058)3.08920060
18Aplastic anemia (HP:0001915)3.04720323
19Cerebral edema (HP:0002181)2.95926786
20Abnormality of midbrain morphology (HP:0002418)2.95449716
21Molar tooth sign on MRI (HP:0002419)2.95449716
22Exertional dyspnea (HP:0002875)2.91189682
23Generalized aminoaciduria (HP:0002909)2.86792310
24Hypoproteinemia (HP:0003075)2.86542032
25Pancreatic cysts (HP:0001737)2.85813782
26Nephronophthisis (HP:0000090)2.81546859
27Methylmalonic acidemia (HP:0002912)2.79843846
28Medial flaring of the eyebrow (HP:0010747)2.78721707
29Thyroiditis (HP:0100646)2.77802175
30Lactic acidosis (HP:0003128)2.73441828
31Increased serum lactate (HP:0002151)2.69973679
32Severe combined immunodeficiency (HP:0004430)2.68016486
33Renal cortical cysts (HP:0000803)2.64849651
34Abnormality of the prostate (HP:0008775)2.54231192
35Respiratory failure (HP:0002878)2.54151773
36Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.52378320
37Glycosuria (HP:0003076)2.50869679
38Abnormality of urine glucose concentration (HP:0011016)2.50869679
39Ketoacidosis (HP:0001993)2.50772866
40Methylmalonic aciduria (HP:0012120)2.46612910
41Type I transferrin isoform profile (HP:0003642)2.46535913
42Exercise intolerance (HP:0003546)2.46069741
43Abnormality of the renal cortex (HP:0011035)2.44307736
44Congenital, generalized hypertrichosis (HP:0004540)2.42242564
45Stomatitis (HP:0010280)2.38501962
46Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.35381766
47Optic disc pallor (HP:0000543)2.30213648
48Abnormality of the renal medulla (HP:0100957)2.27171074
49Dicarboxylic aciduria (HP:0003215)2.24431916
50Abnormality of dicarboxylic acid metabolism (HP:0010995)2.24431916
51Abnormal rod and cone electroretinograms (HP:0008323)2.21772366
52IgG deficiency (HP:0004315)2.21467898
53Congenital stationary night blindness (HP:0007642)2.20387368
54Abolished electroretinogram (ERG) (HP:0000550)2.18825775
55Attenuation of retinal blood vessels (HP:0007843)2.17757024
56Lethargy (HP:0001254)2.16107109
57Congenital primary aphakia (HP:0007707)2.14345895
58True hermaphroditism (HP:0010459)2.11055277
59Gait imbalance (HP:0002141)2.10326892
60Pancreatic fibrosis (HP:0100732)2.07793749
61B lymphocytopenia (HP:0010976)2.06943834
62Abnormal protein glycosylation (HP:0012346)2.06698737
63Abnormal glycosylation (HP:0012345)2.06698737
64Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.06698737
65Abnormal protein N-linked glycosylation (HP:0012347)2.06698737
66Abnormality of renal resorption (HP:0011038)2.05306209
67Large for gestational age (HP:0001520)2.03928090
68CNS demyelination (HP:0007305)2.02472084
69Short tibia (HP:0005736)2.02246311
70Ketosis (HP:0001946)2.02076651
71Nephrogenic diabetes insipidus (HP:0009806)2.00878118
72Abnormality of B cell number (HP:0010975)1.99233149
73Leukodystrophy (HP:0002415)1.98225296
74Elevated erythrocyte sedimentation rate (HP:0003565)1.97149292
75Hyperventilation (HP:0002883)1.96456417
76Abnormal ciliary motility (HP:0012262)1.95100563
77Abnormality of macular pigmentation (HP:0008002)1.94410593
78Chronic sinusitis (HP:0011109)1.93690153
79Hypoglycemic coma (HP:0001325)1.93648349
80Aplasia/hypoplasia of the uterus (HP:0008684)1.92016228
81Constricted visual fields (HP:0001133)1.91529563
82Abnormal respiratory motile cilium morphology (HP:0005938)1.89214452
83Abnormal respiratory epithelium morphology (HP:0012253)1.89214452
84Abnormality of vitamin B metabolism (HP:0004340)1.86902993
85Retinal dysplasia (HP:0007973)1.86647536
86Palpitations (HP:0001962)1.86123676
87Abnormality of aspartate family amino acid metabolism (HP:0010899)1.84831389
88Combined immunodeficiency (HP:0005387)1.84582010
89Aplasia/Hypoplasia of the tibia (HP:0005772)1.83045640
90Decreased electroretinogram (ERG) amplitude (HP:0000654)1.80388532
91Absent rod-and cone-mediated responses on ERG (HP:0007688)1.80027486
92Decreased central vision (HP:0007663)1.77867578
93Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.75801484
94Abnormality of alanine metabolism (HP:0010916)1.75801484
95Hyperalaninemia (HP:0003348)1.75801484
96Pulmonary fibrosis (HP:0002206)1.75238692
97Microvesicular hepatic steatosis (HP:0001414)1.74440195
98Amyotrophic lateral sclerosis (HP:0007354)1.74168674
99Emotional lability (HP:0000712)1.73284836
100Abnormal respiratory motile cilium physiology (HP:0012261)1.72828169

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP4K23.68816472
2FRK3.24375906
3MAP3K122.87375439
4NUAK12.71763503
5EIF2AK32.64558882
6TAOK32.51016730
7TRIM282.34632497
8VRK22.28051214
9TXK2.27837998
10BMPR1B2.13305645
11BCKDK2.08465695
12TLK12.07488385
13ZAK2.03509486
14ERBB31.92062005
15MST41.82372053
16KDR1.79429137
17VRK11.78833936
18WNK31.78783383
19MAP3K41.74252431
20ADRBK21.72294732
21EIF2AK11.69056361
22BMPR21.54413270
23CDK81.49094866
24MYLK1.44759395
25SRPK11.44514869
26STK161.44375787
27GRK11.43667929
28PINK11.39101817
29BUB11.28994734
30INSRR1.23634112
31LIMK11.19093571
32BCR1.17730509
33MAPK131.14713570
34TEC1.10464160
35CCNB11.09112874
36NEK11.05699540
37MAP2K71.05609735
38RPS6KA41.05481123
39CSNK1G31.03441566
40PHKG11.02819105
41PHKG21.02819105
42CSNK1G21.01440445
43DAPK11.01153986
44TESK21.00190169
45TESK10.99639262
46RPS6KA50.98363734
47DYRK20.97927675
48KIT0.97765227
49ILK0.94374067
50OBSCN0.92204094
51PIK3CG0.91120514
52ITK0.84516333
53OXSR10.76917646
54TRPM70.76603254
55CSNK1G10.76395085
56PRKCE0.75442529
57IKBKB0.75239421
58PLK30.74627572
59PLK40.73117171
60PLK20.72911685
61MUSK0.72046322
62CSNK1A1L0.71856517
63GRK70.69919683
64WNK40.69594708
65STK390.66715027
66FLT30.66577034
67SYK0.61933531
68EIF2AK20.58077088
69SCYL20.57240972
70PIM20.56430865
71TSSK60.54905721
72DAPK30.54444716
73TIE10.53083346
74PRKCQ0.52182734
75STK38L0.51469909
76LYN0.49637303
77PAK30.48194305
78MAPKAPK30.45564722
79WEE10.45139481
80MARK10.44262241
81ABL10.43290822
82PASK0.42204702
83CSF1R0.41124911
84CASK0.40449592
85MAP2K20.40403892
86ROCK10.39702459
87CDK30.39101641
88CSNK2A10.39046123
89IGF1R0.38906337
90CSNK2A20.38076138
91CAMK2D0.37585114
92PRKACA0.35907113
93MAP2K60.35354362
94ADRBK10.35325455
95PNCK0.34875788
96LCK0.34312208
97PDK20.34233069
98PRKCA0.33576440
99CAMK2A0.32494617
100CSNK1A10.32327109

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030503.96148595
2Oxidative phosphorylation_Homo sapiens_hsa001903.71739138
3Protein export_Homo sapiens_hsa030603.45187853
4Asthma_Homo sapiens_hsa053103.25740370
5Parkinsons disease_Homo sapiens_hsa050123.14785952
6Type I diabetes mellitus_Homo sapiens_hsa049402.73823272
7Allograft rejection_Homo sapiens_hsa053302.70011991
8Autoimmune thyroid disease_Homo sapiens_hsa053202.69793150
9Graft-versus-host disease_Homo sapiens_hsa053322.47368350
10Intestinal immune network for IgA production_Homo sapiens_hsa046722.42345345
11Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.30466414
12Alzheimers disease_Homo sapiens_hsa050101.95680465
13Maturity onset diabetes of the young_Homo sapiens_hsa049501.92381333
14Huntingtons disease_Homo sapiens_hsa050161.91387080
15RNA polymerase_Homo sapiens_hsa030201.91234552
16Antigen processing and presentation_Homo sapiens_hsa046121.75009975
17Ribosome_Homo sapiens_hsa030101.71871777
18Primary immunodeficiency_Homo sapiens_hsa053401.69364411
19Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.66016354
20Phototransduction_Homo sapiens_hsa047441.65207467
21Rheumatoid arthritis_Homo sapiens_hsa053231.60106721
22Butanoate metabolism_Homo sapiens_hsa006501.52871940
23Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.52526383
24Propanoate metabolism_Homo sapiens_hsa006401.46663608
25Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.37179199
26Cardiac muscle contraction_Homo sapiens_hsa042601.32955658
27Regulation of autophagy_Homo sapiens_hsa041401.32462785
28Fatty acid elongation_Homo sapiens_hsa000621.29520388
29Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.26480597
30Mismatch repair_Homo sapiens_hsa034301.24262429
31Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.24110667
32Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.23692155
33Peroxisome_Homo sapiens_hsa041461.20873706
34Homologous recombination_Homo sapiens_hsa034401.20143124
35Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.18569722
36Viral myocarditis_Homo sapiens_hsa054161.17145848
37Systemic lupus erythematosus_Homo sapiens_hsa053221.12512287
38Fanconi anemia pathway_Homo sapiens_hsa034601.10249840
39Non-homologous end-joining_Homo sapiens_hsa034501.09126401
40Sulfur metabolism_Homo sapiens_hsa009201.04490425
41Basal transcription factors_Homo sapiens_hsa030221.01321341
42RNA degradation_Homo sapiens_hsa030181.01158408
43Collecting duct acid secretion_Homo sapiens_hsa049661.01132203
44SNARE interactions in vesicular transport_Homo sapiens_hsa041300.97222824
45Nitrogen metabolism_Homo sapiens_hsa009100.95959956
46Nucleotide excision repair_Homo sapiens_hsa034200.95241678
47Caffeine metabolism_Homo sapiens_hsa002320.94164757
48Purine metabolism_Homo sapiens_hsa002300.93102833
49Primary bile acid biosynthesis_Homo sapiens_hsa001200.84408758
50Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.83760998
51Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.83421895
52Pyrimidine metabolism_Homo sapiens_hsa002400.83395387
53Hematopoietic cell lineage_Homo sapiens_hsa046400.82706755
54Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.78991702
55Tryptophan metabolism_Homo sapiens_hsa003800.78385432
56Spliceosome_Homo sapiens_hsa030400.76000179
57Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.74216365
58Glutathione metabolism_Homo sapiens_hsa004800.72949676
59Folate biosynthesis_Homo sapiens_hsa007900.70536347
60Staphylococcus aureus infection_Homo sapiens_hsa051500.67586621
61Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.66454680
62Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.65879317
63Linoleic acid metabolism_Homo sapiens_hsa005910.65818523
64Chemical carcinogenesis_Homo sapiens_hsa052040.63665068
65Base excision repair_Homo sapiens_hsa034100.63374096
66Metabolic pathways_Homo sapiens_hsa011000.61669181
67One carbon pool by folate_Homo sapiens_hsa006700.60165008
68RNA transport_Homo sapiens_hsa030130.59452635
69Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.58955577
70Olfactory transduction_Homo sapiens_hsa047400.53527243
71Pentose and glucuronate interconversions_Homo sapiens_hsa000400.52519343
72Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.51659984
73Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.51656409
74Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.48292286
75alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.46099055
76Leishmaniasis_Homo sapiens_hsa051400.45177492
77Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.44883588
78DNA replication_Homo sapiens_hsa030300.43564762
79Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.42839940
80Legionellosis_Homo sapiens_hsa051340.41336634
81Cysteine and methionine metabolism_Homo sapiens_hsa002700.41252562
82Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.39654334
83Steroid hormone biosynthesis_Homo sapiens_hsa001400.39018935
84Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.37685966
85Arachidonic acid metabolism_Homo sapiens_hsa005900.37496569
86Selenocompound metabolism_Homo sapiens_hsa004500.37404703
87beta-Alanine metabolism_Homo sapiens_hsa004100.36123641
88Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.35405366
89Retinol metabolism_Homo sapiens_hsa008300.33962469
90Ether lipid metabolism_Homo sapiens_hsa005650.33737944
91Nicotine addiction_Homo sapiens_hsa050330.30259992
92Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.29941430
93Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.29310888
94Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.29020608
95Drug metabolism - other enzymes_Homo sapiens_hsa009830.28754176
96Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.27353167
97Taste transduction_Homo sapiens_hsa047420.27350772
98Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.26943483
99Fatty acid metabolism_Homo sapiens_hsa012120.25054164
100Carbon metabolism_Homo sapiens_hsa012000.24854470

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