ATP5EP2

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: No gene information available for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1mitochondrial ATP synthesis coupled proton transport (GO:0042776)5.99960282
2chaperone-mediated protein transport (GO:0072321)5.82672246
3* energy coupled proton transport, down electrochemical gradient (GO:0015985)5.77948368
4* ATP synthesis coupled proton transport (GO:0015986)5.77948368
5protein neddylation (GO:0045116)5.35516239
6DNA deamination (GO:0045006)5.25736203
7mitochondrial electron transport, NADH to ubiquinone (GO:0006120)5.23632783
8respiratory electron transport chain (GO:0022904)4.80319306
9electron transport chain (GO:0022900)4.77761343
10viral transcription (GO:0019083)4.67333321
11protein complex biogenesis (GO:0070271)4.66578112
12ribosomal small subunit biogenesis (GO:0042274)4.60484147
13translational termination (GO:0006415)4.53183332
14establishment of protein localization to mitochondrial membrane (GO:0090151)4.50815367
15mitochondrial respiratory chain complex I assembly (GO:0032981)4.48178883
16NADH dehydrogenase complex assembly (GO:0010257)4.48178883
17mitochondrial respiratory chain complex I biogenesis (GO:0097031)4.48178883
18ribosomal small subunit assembly (GO:0000028)4.45380699
19mitochondrial respiratory chain complex assembly (GO:0033108)4.28568960
20SRP-dependent cotranslational protein targeting to membrane (GO:0006614)4.20346436
21cotranslational protein targeting to membrane (GO:0006613)4.14294252
22protein targeting to ER (GO:0045047)4.12658758
23translational elongation (GO:0006414)4.05081087
24protein localization to endoplasmic reticulum (GO:0070972)3.95955173
25establishment of protein localization to endoplasmic reticulum (GO:0072599)3.93828212
26behavioral response to nicotine (GO:0035095)3.93431958
27nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.88482274
28exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.86753086
29RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.81574176
30tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.81574176
31water-soluble vitamin biosynthetic process (GO:0042364)3.75051035
32maturation of SSU-rRNA (GO:0030490)3.73381762
33GTP biosynthetic process (GO:0006183)3.63973516
34respiratory chain complex IV assembly (GO:0008535)3.53027724
35* purine ribonucleoside triphosphate biosynthetic process (GO:0009206)3.48891857
36* hydrogen ion transmembrane transport (GO:1902600)3.47871976
37* purine nucleoside triphosphate biosynthetic process (GO:0009145)3.47122306
38response to pheromone (GO:0019236)3.47113955
39viral life cycle (GO:0019058)3.45171102
40* ATP biosynthetic process (GO:0006754)3.44000508
41cytochrome complex assembly (GO:0017004)3.40867118
42cellular protein complex disassembly (GO:0043624)3.36647868
43translation (GO:0006412)3.36310294
44protein-cofactor linkage (GO:0018065)3.26049262
45* proton transport (GO:0015992)3.25933256
46* hydrogen transport (GO:0006818)3.20531330
47preassembly of GPI anchor in ER membrane (GO:0016254)3.16855568
48nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.15631416
49endoderm formation (GO:0001706)3.14246520
50regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450913.12561540
51transcription elongation from RNA polymerase III promoter (GO:0006385)3.10289647
52termination of RNA polymerase III transcription (GO:0006386)3.10289647
53platelet dense granule organization (GO:0060155)3.10099046
54pyrimidine deoxyribonucleotide catabolic process (GO:0009223)3.02838540
55translational initiation (GO:0006413)3.01303472
56positive regulation of prostaglandin secretion (GO:0032308)2.96549657
57cellular component biogenesis (GO:0044085)2.95654155
58* ribonucleoside triphosphate biosynthetic process (GO:0009201)2.94191149
59intracellular protein transmembrane import (GO:0044743)2.93165132
60UTP biosynthetic process (GO:0006228)2.90636239
61base-excision repair, AP site formation (GO:0006285)2.86251176
62interferon-gamma production (GO:0032609)2.84954263
63positive regulation of fatty acid transport (GO:2000193)2.78611679
64ribosomal large subunit biogenesis (GO:0042273)2.78566656
65cytidine deamination (GO:0009972)2.78388778
66cytidine metabolic process (GO:0046087)2.78388778
67cytidine catabolic process (GO:0006216)2.78388778
68protein deneddylation (GO:0000338)2.77989023
69protein targeting to mitochondrion (GO:0006626)2.77124343
70negative regulation of T cell differentiation in thymus (GO:0033085)2.76747722
71UTP metabolic process (GO:0046051)2.73545445
72establishment of protein localization to mitochondrion (GO:0072655)2.73313380
73regulation of cilium movement (GO:0003352)2.72752081
74protein complex disassembly (GO:0043241)2.71265163
75protein targeting to membrane (GO:0006612)2.70324594
76GPI anchor metabolic process (GO:0006505)2.68103905
77positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:003572.66804172
78positive regulation of icosanoid secretion (GO:0032305)2.66502783
79tRNA processing (GO:0008033)2.64816940
80negative regulation of heart rate (GO:0010459)2.63770309
81positive regulation of protein homodimerization activity (GO:0090073)2.63681359
82deoxyribonucleoside monophosphate metabolic process (GO:0009162)2.61489982
83nuclear-transcribed mRNA catabolic process (GO:0000956)2.61384507
84peptidyl-histidine modification (GO:0018202)2.59214733
85macromolecular complex disassembly (GO:0032984)2.58950826
86guanosine-containing compound biosynthetic process (GO:1901070)2.58335604
87* nucleoside triphosphate biosynthetic process (GO:0009142)2.58006589
88protein localization to mitochondrion (GO:0070585)2.57419727
89negative regulation of mast cell activation (GO:0033004)2.55174104
90GPI anchor biosynthetic process (GO:0006506)2.54151655
91L-fucose metabolic process (GO:0042354)2.53653548
92L-fucose catabolic process (GO:0042355)2.53653548
93fucose catabolic process (GO:0019317)2.53653548
94phosphatidylinositol acyl-chain remodeling (GO:0036149)2.50680670
95oxidative phosphorylation (GO:0006119)2.49516677
96cellular ketone body metabolic process (GO:0046950)2.49435352
97pyrimidine nucleotide catabolic process (GO:0006244)2.49370330
98pseudouridine synthesis (GO:0001522)2.48933815
99parturition (GO:0007567)2.48266488
100mannosylation (GO:0097502)2.47451591

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse4.23549356
2GABP_17652178_ChIP-ChIP_JURKAT_Human4.00597969
3KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.83391215
4HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human3.25582943
5EST1_17652178_ChIP-ChIP_JURKAT_Human3.16943092
6SOX9_22984422_ChIP-ChIP_TESTIS_Rat3.10927366
7JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.91659563
8ETS1_20019798_ChIP-Seq_JURKAT_Human2.63504044
9ZNF274_21170338_ChIP-Seq_K562_Hela2.61542340
10VDR_22108803_ChIP-Seq_LS180_Human2.54034854
11EZH2_22144423_ChIP-Seq_EOC_Human2.46814940
12ELF1_17652178_ChIP-ChIP_JURKAT_Human2.39062979
13HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.37517391
14VDR_23849224_ChIP-Seq_CD4+_Human2.29475560
15TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.16986592
16MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.12621858
17CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.09061709
18NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.01690450
19ELK1_19687146_ChIP-ChIP_HELA_Human1.99747035
20SRF_21415370_ChIP-Seq_HL-1_Mouse1.94807696
21MYC_18940864_ChIP-ChIP_HL60_Human1.85304593
22E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.83168634
23PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.82012502
24FOXP3_21729870_ChIP-Seq_TREG_Human1.79924145
25CREB1_15753290_ChIP-ChIP_HEK293T_Human1.72596651
26NOTCH1_21737748_ChIP-Seq_TLL_Human1.69326413
27IRF1_19129219_ChIP-ChIP_H3396_Human1.65646318
28EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.64701019
29RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.60658458
30BMI1_23680149_ChIP-Seq_NPCS_Mouse1.58871513
31IGF1R_20145208_ChIP-Seq_DFB_Human1.56599994
32TP53_22573176_ChIP-Seq_HFKS_Human1.56466980
33CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.46856845
34MYC_18555785_ChIP-Seq_MESCs_Mouse1.37185665
35FOXA1_25329375_ChIP-Seq_VCAP_Human1.36510953
36FOXA1_27270436_Chip-Seq_PROSTATE_Human1.36510953
37FLI1_27457419_Chip-Seq_LIVER_Mouse1.34950705
38YY1_21170310_ChIP-Seq_MESCs_Mouse1.34388833
39EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.33520142
40TAF2_19829295_ChIP-Seq_ESCs_Human1.31899402
41GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.30897530
42NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.29964936
43GABP_19822575_ChIP-Seq_HepG2_Human1.29311043
44TTF2_22483619_ChIP-Seq_HELA_Human1.29020214
45MYC_18358816_ChIP-ChIP_MESCs_Mouse1.28592390
46MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.26034875
47GATA3_21878914_ChIP-Seq_MCF-7_Human1.25383722
48RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.25073800
49CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.25013121
50NANOG_20526341_ChIP-Seq_ESCs_Human1.22188336
51CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.21454554
52ZFP57_27257070_Chip-Seq_ESCs_Mouse1.18313793
53EGR1_23403033_ChIP-Seq_LIVER_Mouse1.18162709
54BP1_19119308_ChIP-ChIP_Hs578T_Human1.17949891
55* AR_20517297_ChIP-Seq_VCAP_Human1.17933668
56* EWS_26573619_Chip-Seq_HEK293_Human1.17028221
57CBX2_27304074_Chip-Seq_ESCs_Mouse1.15137271
58MYC_19829295_ChIP-Seq_ESCs_Human1.15011714
59FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.13811426
60GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.13041934
61ERA_21632823_ChIP-Seq_H3396_Human1.13034961
62PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.12607509
63CEBPA_26348894_ChIP-Seq_LIVER_Mouse1.12013512
64POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.09434877
65XRN2_22483619_ChIP-Seq_HELA_Human1.08007477
66FOXH1_21741376_ChIP-Seq_EPCs_Human1.07067348
67CTBP1_25329375_ChIP-Seq_LNCAP_Human1.06978231
68* NCOR_22424771_ChIP-Seq_293T_Human1.06642895
69SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.04830551
70IRF8_22096565_ChIP-ChIP_GC-B_Human1.04660942
71PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse1.04520148
72E2F1_18555785_ChIP-Seq_MESCs_Mouse1.04238207
73* EBNA1_20929547_Chip-Seq_RAJI-cells_Human1.03711303
74ETV2_25802403_ChIP-Seq_MESCs_Mouse1.03270357
75SOX2_19829295_ChIP-Seq_ESCs_Human1.02106245
76NANOG_19829295_ChIP-Seq_ESCs_Human1.02106245
77AUTS2_25519132_ChIP-Seq_293T-REX_Human1.01358270
78HTT_18923047_ChIP-ChIP_STHdh_Human1.00456665
79P53_21459846_ChIP-Seq_SAOS-2_Human1.00415072
80GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.00022473
81IKZF1_21737484_ChIP-ChIP_HCT116_Human0.99722605
82ELK1_22589737_ChIP-Seq_MCF10A_Human0.99421455
83TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.99307472
84BCL6_27268052_Chip-Seq_Bcells_Human0.98876766
85FOXH1_21741376_ChIP-Seq_ESCs_Human0.97717312
86REST_21632747_ChIP-Seq_MESCs_Mouse0.94377773
87FUS_26573619_Chip-Seq_HEK293_Human0.93270644
88ERG_20517297_ChIP-Seq_VCAP_Human0.93230565
89STAT1_20625510_ChIP-Seq_HELA_Human0.93179120
90POU5F1_16153702_ChIP-ChIP_HESCs_Human0.93037828
91FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse0.92460338
92P300_19829295_ChIP-Seq_ESCs_Human0.92456769
93LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.92241655
94PCGF2_27294783_Chip-Seq_ESCs_Mouse0.90817314
95RNF2_27304074_Chip-Seq_NSC_Mouse0.90779045
96CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.90538191
97RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human0.89228852
98* HOXB7_26014856_ChIP-Seq_BT474_Human0.89181839
99GATA3_26560356_Chip-Seq_TH2_Human0.86881313
100CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.86021100

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002163_abnormal_gland_morphology2.99884987
2MP0002837_dystrophic_cardiac_calcinosis2.92161764
3MP0006072_abnormal_retinal_apoptosis2.76405220
4MP0006292_abnormal_olfactory_placode2.71340679
5MP0009379_abnormal_foot_pigmentation2.69610192
6MP0003787_abnormal_imprinting2.58123058
7MP0005671_abnormal_response_to2.36226779
8MP0005646_abnormal_pituitary_gland2.26506111
9MP0005379_endocrine/exocrine_gland_phen2.20506761
10MP0008877_abnormal_DNA_methylation2.19377444
11MP0004147_increased_porphyrin_level2.12315385
12MP0003011_delayed_dark_adaptation1.96514335
13MP0003646_muscle_fatigue1.93614453
14MP0005645_abnormal_hypothalamus_physiol1.86967239
15MP0004885_abnormal_endolymph1.83025561
16MP0003195_calcinosis1.81482354
17MP0008875_abnormal_xenobiotic_pharmacok1.79352723
18MP0002638_abnormal_pupillary_reflex1.75567248
19MP0001529_abnormal_vocalization1.72091332
20MP0005551_abnormal_eye_electrophysiolog1.71623493
21MP0004145_abnormal_muscle_electrophysio1.71586199
22MP0000372_irregular_coat_pigmentation1.71055475
23MP0003123_paternal_imprinting1.70317321
24MP0004142_abnormal_muscle_tone1.69167870
25MP0001905_abnormal_dopamine_level1.69059745
26MP0002876_abnormal_thyroid_physiology1.61878702
27MP0002102_abnormal_ear_morphology1.60515267
28MP0001986_abnormal_taste_sensitivity1.59603862
29MP0001835_abnormal_antigen_presentation1.56385753
30MP0008872_abnormal_physiological_respon1.53070430
31MP0005084_abnormal_gallbladder_morpholo1.50257347
32MP0006276_abnormal_autonomic_nervous1.49835704
33MP0002653_abnormal_ependyma_morphology1.47617265
34MP0001968_abnormal_touch/_nociception1.47516169
35MP0003880_abnormal_central_pattern1.46174511
36MP0005253_abnormal_eye_physiology1.41533331
37MP0008789_abnormal_olfactory_epithelium1.41098603
38MP0002272_abnormal_nervous_system1.40546396
39MP0001984_abnormal_olfaction1.39873597
40MP0006036_abnormal_mitochondrial_physio1.37873057
41MP0009046_muscle_twitch1.36412073
42MP0005389_reproductive_system_phenotype1.34958470
43MP0003121_genomic_imprinting1.29885098
44MP0005075_abnormal_melanosome_morpholog1.27986528
45MP0002138_abnormal_hepatobiliary_system1.27197048
46MP0009745_abnormal_behavioral_response1.27010053
47MP0002160_abnormal_reproductive_system1.25448319
48MP0001919_abnormal_reproductive_system1.24873290
49MP0008775_abnormal_heart_ventricle1.23707749
50MP0001727_abnormal_embryo_implantation1.23689727
51MP0000685_abnormal_immune_system1.20868852
52MP0003786_premature_aging1.19028904
53MP0009764_decreased_sensitivity_to1.18396837
54MP0002736_abnormal_nociception_after1.17672984
55MP0005377_hearing/vestibular/ear_phenot1.16261558
56MP0003878_abnormal_ear_physiology1.16261558
57MP0002148_abnormal_hypersensitivity_rea1.10974040
58MP0001348_abnormal_lacrimal_gland1.10271205
59MP0003186_abnormal_redox_activity1.07516069
60MP0000631_abnormal_neuroendocrine_gland1.07025148
61MP0001188_hyperpigmentation1.06921298
62MP0005423_abnormal_somatic_nervous1.06790437
63MP0009785_altered_susceptibility_to1.05385977
64MP0004133_heterotaxia1.04791682
65MP0003806_abnormal_nucleotide_metabolis1.04596300
66MP0005332_abnormal_amino_acid1.03834076
67MP0002938_white_spotting1.01132217
68MP0002277_abnormal_respiratory_mucosa1.00750460
69MP0005387_immune_system_phenotype1.00679851
70MP0001790_abnormal_immune_system1.00679851
71MP0004043_abnormal_pH_regulation0.99593764
72MP0001800_abnormal_humoral_immune0.98797093
73MP0002184_abnormal_innervation0.95179803
74MP0005394_taste/olfaction_phenotype0.94693471
75MP0005499_abnormal_olfactory_system0.94693471
76MP0008995_early_reproductive_senescence0.94433156
77MP0005000_abnormal_immune_tolerance0.92555483
78MP0002557_abnormal_social/conspecific_i0.92362483
79MP0001485_abnormal_pinna_reflex0.91749744
80MP0002693_abnormal_pancreas_physiology0.91691802
81MP0005195_abnormal_posterior_eye0.90680131
82MP0003122_maternal_imprinting0.90542362
83MP0002733_abnormal_thermal_nociception0.87635859
84MP0001970_abnormal_pain_threshold0.86683128
85MP0004742_abnormal_vestibular_system0.86600951
86MP0002572_abnormal_emotion/affect_behav0.83954320
87MP0002723_abnormal_immune_serum0.83897284
88MP0006082_CNS_inflammation0.83569072
89MP0000427_abnormal_hair_cycle0.83096396
90MP0002752_abnormal_somatic_nervous0.82443481
91MP0002095_abnormal_skin_pigmentation0.81950858
92MP0001756_abnormal_urination0.81279884
93MP0001873_stomach_inflammation0.80593003
94MP0003724_increased_susceptibility_to0.79428659
95MP0000230_abnormal_systemic_arterial0.79359573
96MP0006035_abnormal_mitochondrial_morpho0.78292014
97MP0005174_abnormal_tail_pigmentation0.77565188
98MP0005636_abnormal_mineral_homeostasis0.76882281
99MP0004019_abnormal_vitamin_homeostasis0.74730301
100MP0002909_abnormal_adrenal_gland0.73850035

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)5.07776023
2Abnormal mitochondria in muscle tissue (HP:0008316)4.67320326
3Mitochondrial inheritance (HP:0001427)4.63030752
4Acute encephalopathy (HP:0006846)4.47030670
53-Methylglutaconic aciduria (HP:0003535)4.33493454
6Increased CSF lactate (HP:0002490)4.30005434
7Progressive macrocephaly (HP:0004481)4.27938152
8Hepatocellular necrosis (HP:0001404)3.76525600
9Increased hepatocellular lipid droplets (HP:0006565)3.64068094
10Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.60693903
11Decreased activity of mitochondrial respiratory chain (HP:0008972)3.60693903
12Hepatic necrosis (HP:0002605)3.59904730
13Lipid accumulation in hepatocytes (HP:0006561)3.53486331
14Renal Fanconi syndrome (HP:0001994)3.29423619
15Cerebral edema (HP:0002181)3.23386758
16Congenital stationary night blindness (HP:0007642)3.14092102
17Abnormality of cells of the erythroid lineage (HP:0012130)3.11688895
18Abnormality of midbrain morphology (HP:0002418)3.07378669
19Molar tooth sign on MRI (HP:0002419)3.07378669
20Increased intramyocellular lipid droplets (HP:0012240)2.98225667
21Optic disc pallor (HP:0000543)2.89380055
22Increased serum lactate (HP:0002151)2.88056396
23Abnormal number of erythroid precursors (HP:0012131)2.88051970
24Pancreatic cysts (HP:0001737)2.87767818
25Lactic acidosis (HP:0003128)2.85301951
26Methylmalonic acidemia (HP:0002912)2.85279535
27Pancreatic fibrosis (HP:0100732)2.84367342
28Hyperalaninemia (HP:0003348)2.77980440
29Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.77980440
30Abnormality of alanine metabolism (HP:0010916)2.77980440
31Congenital, generalized hypertrichosis (HP:0004540)2.75148131
32Exertional dyspnea (HP:0002875)2.67927275
33Macrocytic anemia (HP:0001972)2.64962346
34Hyperglycinemia (HP:0002154)2.63270290
35Methylmalonic aciduria (HP:0012120)2.61805077
36Agitation (HP:0000713)2.59892030
37True hermaphroditism (HP:0010459)2.57055950
38Increased muscle lipid content (HP:0009058)2.55715621
39Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.54250213
40Respiratory failure (HP:0002878)2.53526067
41Elevated erythrocyte sedimentation rate (HP:0003565)2.50583425
42Reticulocytopenia (HP:0001896)2.43047769
43Lethargy (HP:0001254)2.37232391
44Absent rod-and cone-mediated responses on ERG (HP:0007688)2.37017905
45Nephronophthisis (HP:0000090)2.34448791
46Abnormality of renal resorption (HP:0011038)2.30791415
47Renal cortical cysts (HP:0000803)2.30082664
48Abnormality of the renal cortex (HP:0011035)2.28722810
49Abnormality of urine glucose concentration (HP:0011016)2.26770892
50Glycosuria (HP:0003076)2.26770892
51Medial flaring of the eyebrow (HP:0010747)2.26115935
52Abnormal rod and cone electroretinograms (HP:0008323)2.24398061
53Type II lissencephaly (HP:0007260)2.24348894
54IgG deficiency (HP:0004315)2.21935268
55Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.21462959
56Sclerocornea (HP:0000647)2.18218426
57Abolished electroretinogram (ERG) (HP:0000550)2.16440376
58Exercise intolerance (HP:0003546)2.10824894
59Leukodystrophy (HP:0002415)2.09240178
60Aplasia/hypoplasia of the uterus (HP:0008684)2.01789037
61Respiratory difficulties (HP:0002880)1.99664047
62Absent thumb (HP:0009777)1.94053324
63Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)1.93477299
64Pallor (HP:0000980)1.93151427
65CNS demyelination (HP:0007305)1.90049434
66Progressive microcephaly (HP:0000253)1.87729359
67Pendular nystagmus (HP:0012043)1.87683526
68Abnormality of the renal medulla (HP:0100957)1.87671436
69Testicular atrophy (HP:0000029)1.86202882
70Delayed CNS myelination (HP:0002188)1.86133134
71Hyperphosphaturia (HP:0003109)1.84901763
72Generalized aminoaciduria (HP:0002909)1.82657913
73Ketosis (HP:0001946)1.82148993
74Decreased electroretinogram (ERG) amplitude (HP:0000654)1.81446245
75Abnormal drinking behavior (HP:0030082)1.80850673
76Polydipsia (HP:0001959)1.80850673
77Abnormality of vitamin B metabolism (HP:0004340)1.80622317
78Dicarboxylic aciduria (HP:0003215)1.79170588
79Abnormality of dicarboxylic acid metabolism (HP:0010995)1.79170588
80Abnormality of magnesium homeostasis (HP:0004921)1.77597500
81X-linked dominant inheritance (HP:0001423)1.76813938
82Aplasia/Hypoplasia of the spleen (HP:0010451)1.76359379
83Absent/shortened dynein arms (HP:0200106)1.75188817
84Dynein arm defect of respiratory motile cilia (HP:0012255)1.75188817
85Asplenia (HP:0001746)1.73343518
86Hypomagnesemia (HP:0002917)1.72116253
87Gait imbalance (HP:0002141)1.71822701
88Hypoplasia of the uterus (HP:0000013)1.70910611
89Abnormality of serum amino acid levels (HP:0003112)1.70799608
90Type 2 muscle fiber atrophy (HP:0003554)1.69410997
91Microretrognathia (HP:0000308)1.68188879
92Adrenal hypoplasia (HP:0000835)1.67491070
93Attenuation of retinal blood vessels (HP:0007843)1.67312905
94Congenital primary aphakia (HP:0007707)1.66928755
95Emotional lability (HP:0000712)1.66801699
96Cleft eyelid (HP:0000625)1.66590146
97Cystic liver disease (HP:0006706)1.64180301
98Myokymia (HP:0002411)1.62795237
99Blindness (HP:0000618)1.60427995
100Abnormality of the vitamin B12 metabolism (HP:0004341)1.60100863

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TLK13.94554845
2ZAK3.29150417
3BCKDK3.03065621
4TXK2.85870913
5GRK12.68928274
6ADRBK22.56209166
7FRK2.48979964
8TAOK32.39587717
9MAP4K22.35531048
10WNK42.22555043
11STK162.14211822
12BMPR1B2.12670039
13NME22.08412869
14WNK31.88181229
15VRK11.61216001
16NUAK11.59267332
17PDK21.55847946
18LIMK11.50450855
19DYRK21.45608010
20VRK21.44732651
21MAP3K41.39004890
22PHKG21.27120924
23PHKG11.27120924
24CSNK1G31.25201811
25PINK11.23597183
26CSNK1G21.21358612
27CAMKK21.17629096
28MAP3K121.13524713
29INSRR1.12734810
30OXSR11.11591859
31TIE11.11447256
32RPS6KA51.05197371
33ITK0.99589095
34CSNK1G10.98502881
35TESK20.98270195
36CASK0.97880069
37IKBKB0.92314915
38GRK70.92236866
39ABL20.92139301
40MAP2K60.91664581
41MAP2K70.91199887
42CSNK1A1L0.90614991
43MAPK130.90220841
44KDR0.90197987
45FES0.90073281
46SYK0.89539900
47ADRBK10.87404180
48STK390.86947931
49ACVR1B0.84153420
50KIT0.82850512
51EIF2AK10.76389186
52GRK60.76004179
53CDK190.75750249
54CDK80.75039414
55PRKCI0.74652882
56AURKA0.73753602
57MAP2K20.72415148
58PRKCQ0.67184116
59MAP3K110.66112808
60TNIK0.66062452
61TEC0.65943022
62PLK40.65075981
63MST40.65072644
64PRKCG0.64986589
65NEK10.64381599
66NME10.63306380
67PAK30.60982411
68IKBKE0.60172342
69GRK50.56020824
70LCK0.55386845
71MAPKAPK30.55183797
72MUSK0.54010966
73PRKACA0.52526116
74MAP3K90.52433014
75CSNK2A20.51424629
76LYN0.50838106
77CSNK1A10.50069306
78MINK10.48918611
79CSNK2A10.48770325
80BTK0.48029142
81PLK20.46788955
82MAPKAPK50.46223485
83DAPK30.45553084
84PRKCA0.45231800
85DAPK20.44825699
86PRKCE0.44343499
87MAP4K10.43441304
88PLK30.42301849
89MYLK0.41980482
90PTK2B0.40693739
91PIM10.40659088
92PRKCD0.39503457
93BUB10.38678873
94TBK10.38458430
95CHEK20.38368564
96OBSCN0.37903045
97PIM20.37668220
98PIK3CA0.37280030
99DYRK30.36593438
100PLK10.35233938

Predicted pathways (KEGG)

RankGene SetZ-score
1Oxidative phosphorylation_Homo sapiens_hsa001904.66445226
2Ribosome_Homo sapiens_hsa030104.22711413
3Parkinsons disease_Homo sapiens_hsa050123.82820678
4Alzheimers disease_Homo sapiens_hsa050102.65465082
5Proteasome_Homo sapiens_hsa030502.48497252
6Protein export_Homo sapiens_hsa030602.47314296
7Huntingtons disease_Homo sapiens_hsa050162.44802647
8Asthma_Homo sapiens_hsa053102.39355344
9Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.34386971
10Cardiac muscle contraction_Homo sapiens_hsa042602.15811489
11RNA polymerase_Homo sapiens_hsa030202.15764806
12Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.06154671
13Intestinal immune network for IgA production_Homo sapiens_hsa046722.05728842
14Allograft rejection_Homo sapiens_hsa053301.96248853
15Graft-versus-host disease_Homo sapiens_hsa053321.95438617
16Autoimmune thyroid disease_Homo sapiens_hsa053201.89659885
17Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.85266153
18Linoleic acid metabolism_Homo sapiens_hsa005911.82768700
19Type I diabetes mellitus_Homo sapiens_hsa049401.80797084
20alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.74006411
21Sulfur metabolism_Homo sapiens_hsa009201.64358972
22Phototransduction_Homo sapiens_hsa047441.55287165
23Sulfur relay system_Homo sapiens_hsa041221.48465294
24Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.43389389
25Systemic lupus erythematosus_Homo sapiens_hsa053221.38212627
26Homologous recombination_Homo sapiens_hsa034401.34550006
27RNA degradation_Homo sapiens_hsa030181.34547046
28Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.29634784
29Rheumatoid arthritis_Homo sapiens_hsa053231.15361671
30Tryptophan metabolism_Homo sapiens_hsa003801.14998504
31Pyrimidine metabolism_Homo sapiens_hsa002401.13863467
32Maturity onset diabetes of the young_Homo sapiens_hsa049501.12357039
33Ether lipid metabolism_Homo sapiens_hsa005651.12044548
34Collecting duct acid secretion_Homo sapiens_hsa049661.07497087
35Basal transcription factors_Homo sapiens_hsa030221.06159566
36Primary immunodeficiency_Homo sapiens_hsa053401.05779235
37Antigen processing and presentation_Homo sapiens_hsa046121.04827338
38Nitrogen metabolism_Homo sapiens_hsa009101.04404094
39Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.03140301
40Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.01572702
41Propanoate metabolism_Homo sapiens_hsa006400.98383273
42Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.94380086
43Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.93549723
44Caffeine metabolism_Homo sapiens_hsa002320.91309367
45Fanconi anemia pathway_Homo sapiens_hsa034600.90821845
46Peroxisome_Homo sapiens_hsa041460.90593333
47Arachidonic acid metabolism_Homo sapiens_hsa005900.90039147
48Selenocompound metabolism_Homo sapiens_hsa004500.87903441
49Regulation of autophagy_Homo sapiens_hsa041400.82978027
50Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.82964341
51Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.82132362
52Purine metabolism_Homo sapiens_hsa002300.80772638
53Butanoate metabolism_Homo sapiens_hsa006500.79820498
54Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.79282250
55One carbon pool by folate_Homo sapiens_hsa006700.77887910
56Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.73962386
57Metabolic pathways_Homo sapiens_hsa011000.72008661
58Nucleotide excision repair_Homo sapiens_hsa034200.69093504
59Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.68319039
60Nicotine addiction_Homo sapiens_hsa050330.66436160
61Mismatch repair_Homo sapiens_hsa034300.65377428
62Chemical carcinogenesis_Homo sapiens_hsa052040.65241539
63Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.62535659
64Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.62235683
65Fat digestion and absorption_Homo sapiens_hsa049750.60789922
66Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.57939463
67Folate biosynthesis_Homo sapiens_hsa007900.55886440
68Cysteine and methionine metabolism_Homo sapiens_hsa002700.55173535
69Alcoholism_Homo sapiens_hsa050340.54544796
70Viral myocarditis_Homo sapiens_hsa054160.53460046
71SNARE interactions in vesicular transport_Homo sapiens_hsa041300.53168414
72Fatty acid elongation_Homo sapiens_hsa000620.52982313
73Primary bile acid biosynthesis_Homo sapiens_hsa001200.51615823
74Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.50360377
75Hematopoietic cell lineage_Homo sapiens_hsa046400.50132708
76DNA replication_Homo sapiens_hsa030300.49430362
77Retinol metabolism_Homo sapiens_hsa008300.48464891
78Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.48070460
79Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.47046188
80Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.46767902
81Spliceosome_Homo sapiens_hsa030400.46696628
82Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.46088565
83Morphine addiction_Homo sapiens_hsa050320.43842168
84Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.43489384
85RNA transport_Homo sapiens_hsa030130.43114187
86Olfactory transduction_Homo sapiens_hsa047400.41787596
87Steroid hormone biosynthesis_Homo sapiens_hsa001400.41576912
88Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.41258305
89Base excision repair_Homo sapiens_hsa034100.39251859
90Pentose and glucuronate interconversions_Homo sapiens_hsa000400.38475495
91Drug metabolism - other enzymes_Homo sapiens_hsa009830.37629449
92Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.36261082
93Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.35581895
94Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.32475187
95Staphylococcus aureus infection_Homo sapiens_hsa051500.31868420
96Tyrosine metabolism_Homo sapiens_hsa003500.31773084
97Pyruvate metabolism_Homo sapiens_hsa006200.31309155
98beta-Alanine metabolism_Homo sapiens_hsa004100.31079422
99Phenylalanine metabolism_Homo sapiens_hsa003600.30834253
100Steroid biosynthesis_Homo sapiens_hsa001000.29395442

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