ATP5I

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: Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the e subunit of the Fo complex. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* mitochondrial ATP synthesis coupled proton transport (GO:0042776)8.76525781
2viral transcription (GO:0019083)8.66790878
3translational termination (GO:0006415)8.29455596
4* ATP synthesis coupled proton transport (GO:0015986)7.64475679
5* energy coupled proton transport, down electrochemical gradient (GO:0015985)7.64475679
6ribosomal small subunit biogenesis (GO:0042274)7.64056674
7chaperone-mediated protein transport (GO:0072321)7.54468185
8ribosomal small subunit assembly (GO:0000028)7.34133028
9SRP-dependent cotranslational protein targeting to membrane (GO:0006614)7.26591369
10cotranslational protein targeting to membrane (GO:0006613)7.18803365
11protein targeting to ER (GO:0045047)7.12186751
12mitochondrial electron transport, NADH to ubiquinone (GO:0006120)7.05385296
13translational elongation (GO:0006414)6.90629807
14establishment of protein localization to endoplasmic reticulum (GO:0072599)6.81253315
15* respiratory electron transport chain (GO:0022904)6.70667275
16protein localization to endoplasmic reticulum (GO:0070972)6.66189150
17* electron transport chain (GO:0022900)6.56464079
18cellular protein complex disassembly (GO:0043624)6.36367203
19maturation of SSU-rRNA (GO:0030490)6.33789351
20viral life cycle (GO:0019058)6.21133040
21establishment of protein localization to mitochondrial membrane (GO:0090151)6.09707421
22nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)6.06953363
23translational initiation (GO:0006413)5.69294785
24protein complex biogenesis (GO:0070271)5.41075553
25protein complex disassembly (GO:0043241)5.32024867
26protein neddylation (GO:0045116)5.18853555
27mitochondrial respiratory chain complex assembly (GO:0033108)5.08499014
28mitochondrial respiratory chain complex I biogenesis (GO:0097031)5.01673031
29mitochondrial respiratory chain complex I assembly (GO:0032981)5.01673031
30NADH dehydrogenase complex assembly (GO:0010257)5.01673031
31macromolecular complex disassembly (GO:0032984)5.00121705
32translation (GO:0006412)4.88490820
33protein targeting to membrane (GO:0006612)4.71775673
34ribosomal large subunit biogenesis (GO:0042273)4.67377157
35* ATP biosynthetic process (GO:0006754)4.35611678
36nuclear-transcribed mRNA catabolic process (GO:0000956)4.26304013
37regulation of mitochondrial translation (GO:0070129)4.25955441
38* hydrogen ion transmembrane transport (GO:1902600)4.23948252
39termination of RNA polymerase III transcription (GO:0006386)4.07956679
40transcription elongation from RNA polymerase III promoter (GO:0006385)4.07956679
41* purine ribonucleoside triphosphate biosynthetic process (GO:0009206)4.07288906
42* purine nucleoside triphosphate biosynthetic process (GO:0009145)4.03445207
43mRNA catabolic process (GO:0006402)4.01254182
44proteasome assembly (GO:0043248)3.92574968
45cytochrome complex assembly (GO:0017004)3.89747562
46protein targeting to mitochondrion (GO:0006626)3.87742043
47cellular component biogenesis (GO:0044085)3.85997186
48respiratory chain complex IV assembly (GO:0008535)3.76865195
49establishment of protein localization to mitochondrion (GO:0072655)3.71624729
50* proton transport (GO:0015992)3.70625318
51pseudouridine synthesis (GO:0001522)3.67167349
52RNA catabolic process (GO:0006401)3.63049155
53* ribonucleoside triphosphate biosynthetic process (GO:0009201)3.62816320
54* hydrogen transport (GO:0006818)3.62360684
55ribonucleoprotein complex biogenesis (GO:0022613)3.61250602
56inner mitochondrial membrane organization (GO:0007007)3.57998143
57protein localization to mitochondrion (GO:0070585)3.54189797
58oxidative phosphorylation (GO:0006119)3.46314690
59rRNA modification (GO:0000154)3.33696112
60establishment of protein localization to membrane (GO:0090150)3.33361293
61intracellular protein transmembrane import (GO:0044743)3.33313712
62protein targeting (GO:0006605)3.29920953
63* mitochondrial transport (GO:0006839)3.27972368
64nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.26235225
65* nucleoside triphosphate biosynthetic process (GO:0009142)3.24436596
66GTP biosynthetic process (GO:0006183)3.19960359
67exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.19357994
68protein-cofactor linkage (GO:0018065)3.17170653
69rRNA processing (GO:0006364)3.16029484
70water-soluble vitamin biosynthetic process (GO:0042364)3.15705740
71spliceosomal snRNP assembly (GO:0000387)3.14992916
72tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.14285461
73RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.14285461
74negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.08184746
75establishment of protein localization to organelle (GO:0072594)3.06299185
76rRNA metabolic process (GO:0016072)3.03047679
77sequestering of actin monomers (GO:0042989)3.02481035
78negative regulation of telomerase activity (GO:0051974)3.00675634
79aerobic respiration (GO:0009060)2.99595215
80* purine nucleoside monophosphate biosynthetic process (GO:0009127)2.97768473
81* purine ribonucleoside monophosphate biosynthetic process (GO:0009168)2.97768473
82pyrimidine deoxyribonucleotide catabolic process (GO:0009223)2.97192332
83chromatin remodeling at centromere (GO:0031055)2.90761291
84spliceosomal complex assembly (GO:0000245)2.86484188
85nucleoside transmembrane transport (GO:1901642)2.83719670
86negative regulation of ubiquitin-protein transferase activity (GO:0051444)2.79891338
87negative regulation of ligase activity (GO:0051352)2.79891338
88DNA deamination (GO:0045006)2.79415279
89CENP-A containing nucleosome assembly (GO:0034080)2.78862905
90UTP biosynthetic process (GO:0006228)2.75777355
91positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)2.71149973
92purine ribonucleotide transport (GO:0015868)2.69275129
93protein localization to membrane (GO:0072657)2.67862334
94regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)2.67732230
95regulation of cellular amino acid metabolic process (GO:0006521)2.65082992
96protein K6-linked ubiquitination (GO:0085020)2.63186137
97adenine nucleotide transport (GO:0051503)2.63008121
98otic vesicle formation (GO:0030916)2.62161016
99maturation of 5.8S rRNA (GO:0000460)2.60702639
100deoxyribonucleoside monophosphate metabolic process (GO:0009162)2.60491515

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.73057041
2E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse4.58015287
3GABP_17652178_ChIP-ChIP_JURKAT_Human4.56619177
4EST1_17652178_ChIP-ChIP_JURKAT_Human4.41455081
5MYC_18555785_ChIP-Seq_MESCs_Mouse3.78722901
6SOX9_22984422_ChIP-ChIP_TESTIS_Rat3.68347659
7JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.54638462
8TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat3.47121401
9ETS1_20019798_ChIP-Seq_JURKAT_Human3.34904912
10* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human3.31627895
11CREB1_15753290_ChIP-ChIP_HEK293T_Human3.02862072
12CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.89609553
13HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.71223176
14MYC_18358816_ChIP-ChIP_MESCs_Mouse2.56348116
15HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.50618137
16MYC_19079543_ChIP-ChIP_MESCs_Mouse2.47654607
17MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.44842433
18EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.30291763
19XRN2_22483619_ChIP-Seq_HELA_Human2.26878319
20PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.20574069
21ELK1_19687146_ChIP-ChIP_HELA_Human2.19351778
22* VDR_23849224_ChIP-Seq_CD4+_Human2.17495254
23FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.16897937
24TTF2_22483619_ChIP-Seq_HELA_Human2.16668343
25MYC_19030024_ChIP-ChIP_MESCs_Mouse2.10235302
26NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.99493878
27YY1_21170310_ChIP-Seq_MESCs_Mouse1.97398309
28CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.95001936
29THAP11_20581084_ChIP-Seq_MESCs_Mouse1.94242893
30FOXP3_21729870_ChIP-Seq_TREG_Human1.94148097
31SRF_21415370_ChIP-Seq_HL-1_Mouse1.89183739
32POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.87118493
33MYC_18940864_ChIP-ChIP_HL60_Human1.79925489
34ELF1_17652178_ChIP-ChIP_JURKAT_Human1.79711719
35DCP1A_22483619_ChIP-Seq_HELA_Human1.78530184
36E2F1_18555785_ChIP-Seq_MESCs_Mouse1.76915702
37VDR_22108803_ChIP-Seq_LS180_Human1.72857355
38E2F4_17652178_ChIP-ChIP_JURKAT_Human1.66401902
39ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.57764579
40EZH2_22144423_ChIP-Seq_EOC_Human1.49207518
41FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.39441455
42POU5F1_16153702_ChIP-ChIP_HESCs_Human1.36816871
43* GABP_19822575_ChIP-Seq_HepG2_Human1.33746767
44ELK1_22589737_ChIP-Seq_MCF10A_Human1.33312110
45SOX2_16153702_ChIP-ChIP_HESCs_Human1.30211589
46MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.25959393
47SOX2_18555785_ChIP-Seq_MESCs_Mouse1.24934963
48BMI1_23680149_ChIP-Seq_NPCS_Mouse1.21403710
49ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.19300245
50EWS_26573619_Chip-Seq_HEK293_Human1.17299577
51ZNF263_19887448_ChIP-Seq_K562_Human1.16490262
52KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.16444795
53CTCF_18555785_ChIP-Seq_MESCs_Mouse1.14864610
54ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.14220205
55HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.13494772
56NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.12942388
57FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.12562291
58NELFA_20434984_ChIP-Seq_ESCs_Mouse1.12493483
59YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.09877330
60NANOG_18555785_ChIP-Seq_MESCs_Mouse1.09771292
61CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.08521808
62TP53_22573176_ChIP-Seq_HFKS_Human1.05378319
63ZNF274_21170338_ChIP-Seq_K562_Hela1.04751140
64SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.03753184
65PADI4_21655091_ChIP-ChIP_MCF-7_Human1.03513658
66MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.00174193
67NANOG_16153702_ChIP-ChIP_HESCs_Human0.99219548
68EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.98216630
69TP63_19390658_ChIP-ChIP_HaCaT_Human0.97043550
70FUS_26573619_Chip-Seq_HEK293_Human0.95166254
71HOXB4_20404135_ChIP-ChIP_EML_Mouse0.94946758
72CBX2_27304074_Chip-Seq_ESCs_Mouse0.91443729
73SRY_22984422_ChIP-ChIP_TESTIS_Rat0.90409223
74POU5F1_18555785_ChIP-Seq_MESCs_Mouse0.90197897
75ERG_20517297_ChIP-Seq_VCAP_Human0.87854996
76TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.86876764
77TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.85277808
78CTBP1_25329375_ChIP-Seq_LNCAP_Human0.82612231
79FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.81676419
80FLI1_27457419_Chip-Seq_LIVER_Mouse0.81539767
81EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.81404051
82CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.81203692
83AR_20517297_ChIP-Seq_VCAP_Human0.79834898
84SOX2_18692474_ChIP-Seq_MEFs_Mouse0.79418150
85GATA3_21878914_ChIP-Seq_MCF-7_Human0.79341281
86CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.78806938
87EZH2_27304074_Chip-Seq_ESCs_Mouse0.78583453
88NCOR_22424771_ChIP-Seq_293T_Human0.78204081
89* FOXP1_21924763_ChIP-Seq_HESCs_Human0.78078452
90FOXA1_25329375_ChIP-Seq_VCAP_Human0.78056331
91FOXA1_27270436_Chip-Seq_PROSTATE_Human0.78056331
92TAF2_19829295_ChIP-Seq_ESCs_Human0.77483956
93HTT_18923047_ChIP-ChIP_STHdh_Human0.77427862
94BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.75929807
95KDM5A_27292631_Chip-Seq_BREAST_Human0.75198312
96CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.74775669
97NANOG_20526341_ChIP-Seq_ESCs_Human0.73933777
98OCT4_18692474_ChIP-Seq_MEFs_Mouse0.73533834
99PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse0.72657602
100E2F7_22180533_ChIP-Seq_HELA_Human0.72393562

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0009379_abnormal_foot_pigmentation7.00765815
2MP0006292_abnormal_olfactory_placode3.40475721
3MP0003136_yellow_coat_color3.06873010
4MP0003011_delayed_dark_adaptation2.92163095
5MP0010030_abnormal_orbit_morphology2.85740511
6MP0000566_synostosis2.81561579
7MP0002938_white_spotting2.32377640
8MP0002837_dystrophic_cardiac_calcinosis2.23789882
9MP0003186_abnormal_redox_activity2.12595229
10MP0002653_abnormal_ependyma_morphology2.05333848
11MP0006072_abnormal_retinal_apoptosis1.88803763
12MP0001529_abnormal_vocalization1.87578447
13MP0002277_abnormal_respiratory_mucosa1.85270430
14MP0000372_irregular_coat_pigmentation1.83461070
15MP0006036_abnormal_mitochondrial_physio1.81470848
16MP0001293_anophthalmia1.68264114
17MP0004142_abnormal_muscle_tone1.64916175
18MP0002736_abnormal_nociception_after1.60473869
19MP0001485_abnormal_pinna_reflex1.60131123
20MP0004145_abnormal_muscle_electrophysio1.60101150
21MP0005377_hearing/vestibular/ear_phenot1.59455844
22MP0003878_abnormal_ear_physiology1.59455844
23MP0002638_abnormal_pupillary_reflex1.57932844
24MP0000049_abnormal_middle_ear1.57825001
25MP0008789_abnormal_olfactory_epithelium1.56763950
26MP0005551_abnormal_eye_electrophysiolog1.55569545
27MP0003938_abnormal_ear_development1.55373667
28MP0004133_heterotaxia1.50982704
29MP0008058_abnormal_DNA_repair1.47711566
30MP0008995_early_reproductive_senescence1.46611049
31MP0000631_abnormal_neuroendocrine_gland1.44127515
32MP0001905_abnormal_dopamine_level1.43399702
33MP0003806_abnormal_nucleotide_metabolis1.42740898
34MP0005084_abnormal_gallbladder_morpholo1.42346977
35MP0004957_abnormal_blastocyst_morpholog1.40128102
36MP0003880_abnormal_central_pattern1.38148903
37MP0005499_abnormal_olfactory_system1.37425602
38MP0005394_taste/olfaction_phenotype1.37425602
39MP0003718_maternal_effect1.35924365
40MP0003693_abnormal_embryo_hatching1.34632935
41MP0003137_abnormal_impulse_conducting1.30597808
42MP0002163_abnormal_gland_morphology1.30305479
43MP0002160_abnormal_reproductive_system1.28073165
44MP0001984_abnormal_olfaction1.23782078
45MP0003646_muscle_fatigue1.16297456
46MP0009745_abnormal_behavioral_response1.16180757
47MP0001968_abnormal_touch/_nociception1.13836553
48MP0001440_abnormal_grooming_behavior1.13273841
49MP0005253_abnormal_eye_physiology1.10871036
50MP0002102_abnormal_ear_morphology1.10407039
51MP0005646_abnormal_pituitary_gland1.10106093
52MP0008877_abnormal_DNA_methylation1.09270570
53MP0004742_abnormal_vestibular_system1.08735124
54MP0008875_abnormal_xenobiotic_pharmacok1.08306027
55MP0003941_abnormal_skin_development1.07577657
56MP0005389_reproductive_system_phenotype1.06401642
57MP0006276_abnormal_autonomic_nervous1.06007467
58MP0002272_abnormal_nervous_system1.02207204
59MP0005408_hypopigmentation1.01667888
60MP0006035_abnormal_mitochondrial_morpho1.00560554
61MP0009046_muscle_twitch1.00159744
62MP0000026_abnormal_inner_ear0.99952774
63MP0002822_catalepsy0.97572625
64MP0008872_abnormal_physiological_respon0.94250162
65MP0003786_premature_aging0.91442455
66MP0002210_abnormal_sex_determination0.91159970
67MP0002233_abnormal_nose_morphology0.90960334
68MP0003123_paternal_imprinting0.90304880
69MP0001346_abnormal_lacrimal_gland0.90205694
70MP0004019_abnormal_vitamin_homeostasis0.88661854
71MP0005332_abnormal_amino_acid0.88483352
72MP0002095_abnormal_skin_pigmentation0.87810264
73MP0004885_abnormal_endolymph0.87759860
74MP0001919_abnormal_reproductive_system0.86834613
75MP0003315_abnormal_perineum_morphology0.86063276
76MP0002249_abnormal_larynx_morphology0.84658117
77MP0009250_abnormal_appendicular_skeleto0.84128315
78MP0005645_abnormal_hypothalamus_physiol0.83773389
79MP0002752_abnormal_somatic_nervous0.83035333
80MP0005379_endocrine/exocrine_gland_phen0.83000686
81MP0002234_abnormal_pharynx_morphology0.82161663
82MP0004782_abnormal_surfactant_physiolog0.81092746
83MP0005195_abnormal_posterior_eye0.80816704
84MP0003937_abnormal_limbs/digits/tail_de0.80722481
85MP0003283_abnormal_digestive_organ0.80236532
86MP0008932_abnormal_embryonic_tissue0.80234822
87MP0001177_atelectasis0.77836099
88MP0001286_abnormal_eye_development0.77629024
89MP0001486_abnormal_startle_reflex0.76997953
90MP0002876_abnormal_thyroid_physiology0.76677631
91MP0005391_vision/eye_phenotype0.75350944
92MP0010386_abnormal_urinary_bladder0.74013024
93MP0003195_calcinosis0.73966495
94MP0002734_abnormal_mechanical_nocicepti0.72799093
95MP0002751_abnormal_autonomic_nervous0.72507881
96MP0002064_seizures0.71260344
97MP0002295_abnormal_pulmonary_circulatio0.71110665
98MP0004147_increased_porphyrin_level0.70027374
99MP0003111_abnormal_nucleus_morphology0.69928220
100MP0002132_abnormal_respiratory_system0.69374346

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)6.27950358
2Abnormal mitochondria in muscle tissue (HP:0008316)5.67660809
3Mitochondrial inheritance (HP:0001427)5.65023853
4Increased hepatocellular lipid droplets (HP:0006565)5.44638162
5Acute encephalopathy (HP:0006846)5.32320636
6Progressive macrocephaly (HP:0004481)5.17930017
7Abnormality of cells of the erythroid lineage (HP:0012130)5.14138509
8Abnormal number of erythroid precursors (HP:0012131)5.12591779
9Lipid accumulation in hepatocytes (HP:0006561)4.86985850
10Increased CSF lactate (HP:0002490)4.83713023
11Macrocytic anemia (HP:0001972)4.77896511
12Renal Fanconi syndrome (HP:0001994)4.53946680
13Hepatocellular necrosis (HP:0001404)4.49440715
14Decreased activity of mitochondrial respiratory chain (HP:0008972)4.35863242
15Abnormal activity of mitochondrial respiratory chain (HP:0011922)4.35863242
16Reticulocytopenia (HP:0001896)4.34374464
17Hepatic necrosis (HP:0002605)4.10786189
18Increased intramyocellular lipid droplets (HP:0012240)3.96440383
19Cerebral edema (HP:0002181)3.91841597
203-Methylglutaconic aciduria (HP:0003535)3.78575729
21Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)3.60241640
22Pallor (HP:0000980)3.54129050
23Exertional dyspnea (HP:0002875)3.46225389
24Increased muscle lipid content (HP:0009058)3.26729265
25Respiratory difficulties (HP:0002880)3.20022734
26Congenital, generalized hypertrichosis (HP:0004540)3.11112416
27Respiratory failure (HP:0002878)3.05641086
28Lactic acidosis (HP:0003128)3.00081353
29Aplastic anemia (HP:0001915)2.98536519
30Exercise intolerance (HP:0003546)2.91826603
31Optic disc pallor (HP:0000543)2.91115901
32Abnormality of renal resorption (HP:0011038)2.85789937
33Leukodystrophy (HP:0002415)2.82390783
34Increased serum lactate (HP:0002151)2.80786898
35Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.63083269
36Oral leukoplakia (HP:0002745)2.59051070
37Septo-optic dysplasia (HP:0100842)2.58283600
38Hyperphosphaturia (HP:0003109)2.57131617
39Abnormality of urine glucose concentration (HP:0011016)2.57131328
40Glycosuria (HP:0003076)2.57131328
41Myokymia (HP:0002411)2.55439761
42Aplasia/Hypoplasia of the sacrum (HP:0008517)2.52113842
43Molar tooth sign on MRI (HP:0002419)2.46659375
44Abnormality of midbrain morphology (HP:0002418)2.46659375
45Pancreatic fibrosis (HP:0100732)2.46520211
46Rib fusion (HP:0000902)2.36916791
47Lethargy (HP:0001254)2.34371587
48Partial duplication of thumb phalanx (HP:0009944)2.24798474
49Pancreatic cysts (HP:0001737)2.24608967
50Megaloblastic anemia (HP:0001889)2.23977188
51True hermaphroditism (HP:0010459)2.19713130
52Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.11631855
53Colon cancer (HP:0003003)2.10353044
54Partial duplication of the phalanx of hand (HP:0009999)2.09218444
55X-linked dominant inheritance (HP:0001423)2.05485075
56Abnormal respiratory motile cilium physiology (HP:0012261)2.02398239
57Stenosis of the external auditory canal (HP:0000402)1.99589849
58Absent septum pellucidum (HP:0001331)1.97017212
59Sclerocornea (HP:0000647)1.96148459
60Abnormal urine phosphate concentration (HP:0012599)1.96011222
61Abnormality of the labia minora (HP:0012880)1.95317458
62Esophageal atresia (HP:0002032)1.95021930
63CNS demyelination (HP:0007305)1.93462158
64Generalized aminoaciduria (HP:0002909)1.91707750
65Abnormal ciliary motility (HP:0012262)1.85559511
66Sparse eyelashes (HP:0000653)1.84003668
67Methylmalonic acidemia (HP:0002912)1.83323179
68Hyperglycinemia (HP:0002154)1.82018074
69Pendular nystagmus (HP:0012043)1.81216083
70Renal tubular dysfunction (HP:0000124)1.79996726
71Concave nail (HP:0001598)1.77884427
72Emotional lability (HP:0000712)1.77369984
73Nasolacrimal duct obstruction (HP:0000579)1.75740243
74Maternal diabetes (HP:0009800)1.75445274
75Nephronophthisis (HP:0000090)1.74595021
76Rhinitis (HP:0012384)1.72704938
77Abnormal respiratory motile cilium morphology (HP:0005938)1.72589303
78Abnormal respiratory epithelium morphology (HP:0012253)1.72589303
79Abnormality of the phalanges of the 2nd finger (HP:0009541)1.69984775
80Methylmalonic aciduria (HP:0012120)1.68754500
81Absent thumb (HP:0009777)1.67431753
82Blindness (HP:0000618)1.64489282
83Congenital stationary night blindness (HP:0007642)1.64042760
84Pancytopenia (HP:0001876)1.63587465
85Male pseudohermaphroditism (HP:0000037)1.63435132
86Anencephaly (HP:0002323)1.61899756
87Cleft eyelid (HP:0000625)1.61760353
88Depressed nasal ridge (HP:0000457)1.60533234
89Medial flaring of the eyebrow (HP:0010747)1.60531368
90Absent rod-and cone-mediated responses on ERG (HP:0007688)1.59999338
91Testicular atrophy (HP:0000029)1.58790004
92Triphalangeal thumb (HP:0001199)1.58348968
93Anophthalmia (HP:0000528)1.57758362
94Absent/shortened dynein arms (HP:0200106)1.57754681
95Dynein arm defect of respiratory motile cilia (HP:0012255)1.57754681
96Type I transferrin isoform profile (HP:0003642)1.56750144
97Abnormality of the lacrimal duct (HP:0011481)1.56225903
98Chronic bronchitis (HP:0004469)1.54840214
99Aplasia/hypoplasia of the uterus (HP:0008684)1.54717871
100Abnormality of the septum pellucidum (HP:0007375)1.52058567

Predicted kinase interactions (KEA)

RankGene SetZ-score
1VRK25.01394362
2TLK13.46328237
3NME23.45259937
4BUB13.34763609
5STK163.16402083
6NME12.72782320
7ZAK2.66074590
8VRK12.64083011
9CDC72.52124755
10DYRK21.92700335
11WNK31.87741460
12BCKDK1.68079183
13NUAK11.61652692
14PBK1.57635678
15SRPK11.55916213
16MST41.50916705
17ADRBK21.45044010
18GRK11.41066473
19BMPR1B1.39693923
20PASK1.35008252
21MAPK151.34861368
22PDK21.33528478
23OBSCN1.32363969
24WNK41.31579606
25FGFR21.30093129
26LRRK21.29658197
27NEK11.27745657
28MAP3K121.27388588
29PLK41.22993943
30INSRR1.20199925
31PLK31.19707645
32TAF11.19295435
33PINK11.18008986
34PLK11.14834650
35TTK1.12441605
36EPHB21.07123939
37TNIK1.06609516
38DYRK31.02363760
39ABL21.01767215
40MAP4K21.00797803
41MUSK1.00519787
42WEE10.97509737
43AURKB0.97437490
44RPS6KA50.94718050
45CSNK2A20.93647926
46AURKA0.93547746
47KDR0.90922385
48GRK70.90165162
49PRKCG0.90065150
50ILK0.88740275
51CASK0.88248776
52CSNK2A10.86302125
53CHEK20.77885832
54PIK3CA0.76752079
55PHKG20.76045608
56PHKG10.76045608
57PAK30.73888546
58DAPK30.72583871
59STK390.70536771
60MYLK0.70198030
61CDK190.68993272
62STK40.68504144
63PNCK0.66627862
64OXSR10.66012837
65CCNB10.64105953
66PRKACA0.62628925
67TESK20.61398556
68ADRBK10.59643561
69MAP2K70.58606196
70BRSK20.58384320
71BRSK10.58291549
72CSNK1A10.57626843
73GRK50.57267243
74CDK80.56505424
75TIE10.56028810
76ATR0.55871312
77CSNK1E0.55234201
78FGFR10.55037091
79TXK0.53183897
80CSNK1G20.49356559
81EIF2AK10.48895914
82CAMK2A0.48289360
83NEK20.48191111
84STK240.47470950
85CSNK1G30.46202420
86CSNK1G10.46191167
87PKN10.45519756
88PIM20.43366353
89CAMK10.43105638
90MAP3K40.42736214
91MKNK10.41852403
92EPHA40.39374981
93PRKCA0.38205009
94TGFBR10.36446477
95MKNK20.36189242
96PRKACB0.34449358
97UHMK10.33314263
98MAP3K110.32976274
99PRKG10.32848120
100CDK30.32126694

Predicted pathways (KEGG)

RankGene SetZ-score
1Ribosome_Homo sapiens_hsa030106.38302950
2* Oxidative phosphorylation_Homo sapiens_hsa001905.41799474
3Parkinsons disease_Homo sapiens_hsa050124.62270798
4Huntingtons disease_Homo sapiens_hsa050163.35617579
5Proteasome_Homo sapiens_hsa030503.32111368
6Alzheimers disease_Homo sapiens_hsa050103.22777175
7Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.95953290
8Cardiac muscle contraction_Homo sapiens_hsa042602.83142036
9RNA polymerase_Homo sapiens_hsa030202.78430084
10Protein export_Homo sapiens_hsa030602.31570521
11Folate biosynthesis_Homo sapiens_hsa007901.91361134
12Sulfur relay system_Homo sapiens_hsa041221.85431730
13Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.72590071
14Homologous recombination_Homo sapiens_hsa034401.72384373
15Mismatch repair_Homo sapiens_hsa034301.69645157
16DNA replication_Homo sapiens_hsa030301.68578284
17One carbon pool by folate_Homo sapiens_hsa006701.58193405
18Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.50464509
19Spliceosome_Homo sapiens_hsa030401.49333145
20Pyrimidine metabolism_Homo sapiens_hsa002401.32836234
21Phototransduction_Homo sapiens_hsa047441.25108171
22Caffeine metabolism_Homo sapiens_hsa002321.17120537
23Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.12951433
24Nucleotide excision repair_Homo sapiens_hsa034201.11638371
25Nitrogen metabolism_Homo sapiens_hsa009101.09157569
26Linoleic acid metabolism_Homo sapiens_hsa005911.06525608
27Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.05763013
28RNA degradation_Homo sapiens_hsa030181.05652331
29Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.03666506
30Purine metabolism_Homo sapiens_hsa002301.00602109
31Base excision repair_Homo sapiens_hsa034100.99493190
32Vitamin digestion and absorption_Homo sapiens_hsa049770.94147811
33Basal transcription factors_Homo sapiens_hsa030220.93554348
34Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.91347876
35Maturity onset diabetes of the young_Homo sapiens_hsa049500.91264801
36Pyruvate metabolism_Homo sapiens_hsa006200.89805539
37Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.88663980
38Fanconi anemia pathway_Homo sapiens_hsa034600.84292141
39Tryptophan metabolism_Homo sapiens_hsa003800.84073629
40* Metabolic pathways_Homo sapiens_hsa011000.80573934
41Glutathione metabolism_Homo sapiens_hsa004800.79588588
42RNA transport_Homo sapiens_hsa030130.78473595
43Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.78092484
44alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.76577057
45Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.76236036
46Chemical carcinogenesis_Homo sapiens_hsa052040.72406641
47Ether lipid metabolism_Homo sapiens_hsa005650.69049472
48Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.68639376
49Pentose and glucuronate interconversions_Homo sapiens_hsa000400.67717992
50Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.66440115
51Collecting duct acid secretion_Homo sapiens_hsa049660.65078407
52Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.63761204
53Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.63633764
54Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.62800956
55Retinol metabolism_Homo sapiens_hsa008300.61683195
56Nicotine addiction_Homo sapiens_hsa050330.60548522
57Propanoate metabolism_Homo sapiens_hsa006400.59817927
58Peroxisome_Homo sapiens_hsa041460.58734878
59Tyrosine metabolism_Homo sapiens_hsa003500.57219047
60Fatty acid elongation_Homo sapiens_hsa000620.55872825
61Mineral absorption_Homo sapiens_hsa049780.55246365
62Selenocompound metabolism_Homo sapiens_hsa004500.54409782
63Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.54372329
64Cysteine and methionine metabolism_Homo sapiens_hsa002700.53451323
65Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.50633914
66Butanoate metabolism_Homo sapiens_hsa006500.48652840
67Arachidonic acid metabolism_Homo sapiens_hsa005900.47930512
68Sulfur metabolism_Homo sapiens_hsa009200.47180589
69Arginine and proline metabolism_Homo sapiens_hsa003300.46583026
70Fat digestion and absorption_Homo sapiens_hsa049750.45170806
71Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.42351156
72beta-Alanine metabolism_Homo sapiens_hsa004100.40761202
73Steroid hormone biosynthesis_Homo sapiens_hsa001400.38405303
74Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.38401202
75Phenylalanine metabolism_Homo sapiens_hsa003600.38033689
76Systemic lupus erythematosus_Homo sapiens_hsa053220.36552195
77Drug metabolism - other enzymes_Homo sapiens_hsa009830.36240195
78SNARE interactions in vesicular transport_Homo sapiens_hsa041300.36219592
79Primary bile acid biosynthesis_Homo sapiens_hsa001200.35540920
80Vitamin B6 metabolism_Homo sapiens_hsa007500.33319872
81Histidine metabolism_Homo sapiens_hsa003400.31554231
82Fatty acid degradation_Homo sapiens_hsa000710.30978093
83Basal cell carcinoma_Homo sapiens_hsa052170.30298460
84Olfactory transduction_Homo sapiens_hsa047400.26047537
85Taste transduction_Homo sapiens_hsa047420.22624808
86Primary immunodeficiency_Homo sapiens_hsa053400.21397072
87Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.20453122
88Steroid biosynthesis_Homo sapiens_hsa001000.19248173
89Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.17378020
90Cell cycle_Homo sapiens_hsa041100.16554390
91Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.15702007
92Non-homologous end-joining_Homo sapiens_hsa034500.15669475
93Hedgehog signaling pathway_Homo sapiens_hsa043400.14439527
94Carbon metabolism_Homo sapiens_hsa012000.13287499
95Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.11731432
96Morphine addiction_Homo sapiens_hsa050320.09266791
97GABAergic synapse_Homo sapiens_hsa047270.08220355
98Regulation of autophagy_Homo sapiens_hsa041400.08175575
99Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.06773323
100Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.06575618

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