NDUFAB1

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)7.77661993
2energy coupled proton transport, down electrochemical gradient (GO:0015985)7.28656893
3ATP synthesis coupled proton transport (GO:0015986)7.28656893
4* mitochondrial electron transport, NADH to ubiquinone (GO:0006120)6.26790278
5* respiratory electron transport chain (GO:0022904)6.00826828
6* electron transport chain (GO:0022900)5.83802095
7DNA deamination (GO:0045006)5.60548361
8proteasome assembly (GO:0043248)5.56859838
9ribosomal small subunit biogenesis (GO:0042274)5.29812921
10viral transcription (GO:0019083)4.76943391
11regulation of mitochondrial translation (GO:0070129)4.70215335
12oxidative phosphorylation (GO:0006119)4.69858240
13translational termination (GO:0006415)4.64559315
14maturation of SSU-rRNA (GO:0030490)4.64119565
15establishment of protein localization to mitochondrial membrane (GO:0090151)4.55039353
16ribosomal large subunit biogenesis (GO:0042273)4.50311333
17termination of RNA polymerase III transcription (GO:0006386)4.25148271
18transcription elongation from RNA polymerase III promoter (GO:0006385)4.25148271
19ribosomal small subunit assembly (GO:0000028)4.23325433
20chaperone-mediated protein transport (GO:0072321)4.14415307
21translational elongation (GO:0006414)4.12676699
22rRNA modification (GO:0000154)4.11646779
23mitochondrial respiratory chain complex I biogenesis (GO:0097031)4.04734708
24mitochondrial respiratory chain complex I assembly (GO:0032981)4.04734708
25NADH dehydrogenase complex assembly (GO:0010257)4.04734708
26SRP-dependent cotranslational protein targeting to membrane (GO:0006614)4.04275743
27cotranslational protein targeting to membrane (GO:0006613)4.01961636
28establishment of protein localization to mitochondrion (GO:0072655)4.00801278
29protein targeting to mitochondrion (GO:0006626)3.98824006
30protein targeting to ER (GO:0045047)3.96864052
31translation (GO:0006412)3.95493643
32respiratory chain complex IV assembly (GO:0008535)3.93488750
33ATP biosynthetic process (GO:0006754)3.93438358
34purine ribonucleoside triphosphate biosynthetic process (GO:0009206)3.89040597
35protein complex biogenesis (GO:0070271)3.88177266
36negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.86967928
37purine nucleoside triphosphate biosynthetic process (GO:0009145)3.83736803
38ribonucleoprotein complex biogenesis (GO:0022613)3.82899398
39translational initiation (GO:0006413)3.81315051
40protein localization to endoplasmic reticulum (GO:0070972)3.77682291
41establishment of protein localization to endoplasmic reticulum (GO:0072599)3.77682170
42spliceosomal snRNP assembly (GO:0000387)3.77261996
43DNA damage response, detection of DNA damage (GO:0042769)3.74848731
44GTP biosynthetic process (GO:0006183)3.73648434
45deoxyribonucleotide biosynthetic process (GO:0009263)3.73577551
46ribosome assembly (GO:0042255)3.72593346
47mitochondrial respiratory chain complex assembly (GO:0033108)3.72317360
48protein localization to mitochondrion (GO:0070585)3.69438155
49cellular protein complex disassembly (GO:0043624)3.69354698
50L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.67868638
51regulation of cellular amino acid metabolic process (GO:0006521)3.67063285
52cytochrome complex assembly (GO:0017004)3.65587231
53positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.65160735
547-methylguanosine mRNA capping (GO:0006370)3.64022324
55cellular component biogenesis (GO:0044085)3.61359206
56chromatin remodeling at centromere (GO:0031055)3.60368632
57viral life cycle (GO:0019058)3.58333949
58RNA capping (GO:0036260)3.57062161
597-methylguanosine RNA capping (GO:0009452)3.57062161
60CENP-A containing nucleosome assembly (GO:0034080)3.55072118
61ubiquinone biosynthetic process (GO:0006744)3.54023858
62quinone biosynthetic process (GO:1901663)3.54023858
63regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.53531076
64establishment of integrated proviral latency (GO:0075713)3.53341388
65anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.52354270
66spliceosomal complex assembly (GO:0000245)3.51774357
67negative regulation of ligase activity (GO:0051352)3.51307487
68negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.51307487
69deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.50253583
70deoxyribonucleoside triphosphate metabolic process (GO:0009200)3.49886513
71ribonucleoside triphosphate biosynthetic process (GO:0009201)3.49004834
72telomere maintenance via semi-conservative replication (GO:0032201)3.48421005
73pyrimidine deoxyribonucleotide catabolic process (GO:0009223)3.46321387
74deoxyribonucleoside diphosphate metabolic process (GO:0009186)3.43585585
75pseudouridine synthesis (GO:0001522)3.41974775
76nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.38649690
77positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.38562083
78inner mitochondrial membrane organization (GO:0007007)3.38165928
79exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.36959039
80nucleobase-containing small molecule interconversion (GO:0015949)3.35938268
81iron-sulfur cluster assembly (GO:0016226)3.35930980
82metallo-sulfur cluster assembly (GO:0031163)3.35930980
83protein neddylation (GO:0045116)3.35648377
84signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.35079268
85signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.35079268
86signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.35079268
87regulation of cellular respiration (GO:0043457)3.35044799
88protein deneddylation (GO:0000338)3.34944210
89rRNA processing (GO:0006364)3.34378821
90peptidyl-histidine modification (GO:0018202)3.32184269
91DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.31909856
92UTP biosynthetic process (GO:0006228)3.31633558
93signal transduction involved in DNA damage checkpoint (GO:0072422)3.29975784
94signal transduction involved in DNA integrity checkpoint (GO:0072401)3.29975784
95nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.28633550
96L-methionine salvage (GO:0071267)3.28574577
97L-methionine biosynthetic process (GO:0071265)3.28574577
98amino acid salvage (GO:0043102)3.28574577
99RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.26797551
100tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.26797551
101DNA replication checkpoint (GO:0000076)3.26268575
102signal transduction involved in cell cycle checkpoint (GO:0072395)3.25933152
103hydrogen ion transmembrane transport (GO:1902600)3.25910057
104mitochondrial transport (GO:0006839)3.25707604
105DNA strand elongation involved in DNA replication (GO:0006271)3.24948392
106signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.24414512
107intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.24414512
108positive regulation of ligase activity (GO:0051351)3.24005385
109rRNA metabolic process (GO:0016072)3.23175470
110cullin deneddylation (GO:0010388)3.22845970
111aerobic respiration (GO:0009060)3.22457413
112guanosine-containing compound biosynthetic process (GO:1901070)3.20354830
113formation of translation preinitiation complex (GO:0001731)3.14400370
114protein complex disassembly (GO:0043241)3.14087150
115intracellular protein transmembrane import (GO:0044743)3.13610808
116pyrimidine deoxyribonucleotide metabolic process (GO:0009219)3.09539759
117purine ribonucleoside monophosphate biosynthetic process (GO:0009168)3.07809640
118purine nucleoside monophosphate biosynthetic process (GO:0009127)3.07809640
119nucleoside triphosphate biosynthetic process (GO:0009142)3.06348306
120regulation of ubiquitin-protein transferase activity (GO:0051438)3.05532981
121protein targeting to membrane (GO:0006612)3.04864330
122macromolecular complex disassembly (GO:0032984)3.04778679
123proton transport (GO:0015992)3.03440726

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human5.05879844
2MYC_18555785_ChIP-Seq_MESCs_Mouse4.56481090
3GABP_17652178_ChIP-ChIP_JURKAT_Human4.30529951
4EST1_17652178_ChIP-ChIP_JURKAT_Human4.08873915
5JARID1A_20064375_ChIP-Seq_MESCs_Mouse4.08414178
6* ETS1_20019798_ChIP-Seq_JURKAT_Human3.89500359
7* EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.71665477
8E2F7_22180533_ChIP-Seq_HELA_Human3.52181111
9CREB1_15753290_ChIP-ChIP_HEK293T_Human3.46911499
10SOX9_22984422_ChIP-ChIP_TESTIS_Rat3.42705779
11CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human3.40323552
12HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.29509420
13E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.25101821
14NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.24424236
15MYC_18358816_ChIP-ChIP_MESCs_Mouse3.23287229
16* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human3.00046147
17MYC_19079543_ChIP-ChIP_MESCs_Mouse2.97988695
18* MYC_19030024_ChIP-ChIP_MESCs_Mouse2.95069496
19CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.92039902
20* VDR_23849224_ChIP-Seq_CD4+_Human2.47261230
21XRN2_22483619_ChIP-Seq_HELA_Human2.47116637
22E2F4_17652178_ChIP-ChIP_JURKAT_Human2.45780445
23E2F1_18555785_ChIP-Seq_MESCs_Mouse2.42723083
24SRF_21415370_ChIP-Seq_HL-1_Mouse2.34059964
25THAP11_20581084_ChIP-Seq_MESCs_Mouse2.33473083
26YY1_21170310_ChIP-Seq_MESCs_Mouse2.28959972
27DCP1A_22483619_ChIP-Seq_HELA_Human2.28381751
28ELF1_17652178_ChIP-ChIP_JURKAT_Human2.25497081
29NELFA_20434984_ChIP-Seq_ESCs_Mouse2.22262493
30TTF2_22483619_ChIP-Seq_HELA_Human2.08843113
31FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.08225411
32FOXP3_21729870_ChIP-Seq_TREG_Human2.02615725
33ZFP42_18358816_ChIP-ChIP_MESCs_Mouse2.01287357
34PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.94502078
35* GABP_19822575_ChIP-Seq_HepG2_Human1.85265723
36NANOG_18555785_ChIP-Seq_MESCs_Mouse1.83126748
37ELK1_19687146_ChIP-ChIP_HELA_Human1.79747032
38* ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.75734922
39MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.67334481
40MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.65398142
41FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.65301332
42POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.64175120
43MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.62588544
44PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.58195688
45TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.58157684
46CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.55738307
47YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.55644110
48POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.54936413
49* MYCN_18555785_ChIP-Seq_MESCs_Mouse1.53158693
50ELK1_22589737_ChIP-Seq_MCF10A_Human1.46793455
51PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.42969618
52RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.39866173
53HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.39522936
54* ZFX_18555785_ChIP-Seq_MESCs_Mouse1.38092785
55BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.34549178
56CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.33561310
57MYC_18940864_ChIP-ChIP_HL60_Human1.27654249
58ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.27401549
59FOXM1_23109430_ChIP-Seq_U2OS_Human1.24874024
60KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.24548774
61HOXB4_20404135_ChIP-ChIP_EML_Mouse1.23887175
62AR_21909140_ChIP-Seq_LNCAP_Human1.22092266
63PADI4_21655091_ChIP-ChIP_MCF-7_Human1.15944224
64TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.15932068
65SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.15701940
66STAT3_1855785_ChIP-Seq_MESCs_Mouse1.14993012
67CIITA_25753668_ChIP-Seq_RAJI_Human1.11977693
68* CTCF_18555785_ChIP-Seq_MESCs_Mouse1.10663325
69HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.09554084
70FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.08128552
71POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.06026279
72CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.05191224
73ZNF263_19887448_ChIP-Seq_K562_Human1.05016392
74SRY_22984422_ChIP-ChIP_TESTIS_Rat0.98608752
75SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.97580298
76CCND1_20090754_ChIP-ChIP_RETINA_Mouse0.96261413
77RBPJ_22232070_ChIP-Seq_NCS_Mouse0.94130141
78KDM5A_27292631_Chip-Seq_BREAST_Human0.93211430
79NANOG_16153702_ChIP-ChIP_HESCs_Human0.92509510
80SOX17_20123909_ChIP-Seq_XEN_Mouse0.92416642
81YY1_22570637_ChIP-Seq_MALME-3M_Human0.91539269
82SOX2_18692474_ChIP-Seq_MEFs_Mouse0.91030054
83OCT4_18692474_ChIP-Seq_MEFs_Mouse0.90757835
84E2F1_21310950_ChIP-Seq_MCF-7_Human0.90038333
85SOX2_16153702_ChIP-ChIP_HESCs_Human0.89564227
86CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.89426654
87ERG_20887958_ChIP-Seq_HPC-7_Mouse0.87704625
88DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.84058555
89NOTCH1_21737748_ChIP-Seq_TLL_Human0.83986985
90SOX2_18555785_ChIP-Seq_MESCs_Mouse0.83862660
91DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.83798754
92* FOXP1_21924763_ChIP-Seq_HESCs_Human0.83602778
93CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.83558535
94SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.82814383
95TBX5_21415370_ChIP-Seq_HL-1_Mouse0.82210830
96CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.79890266
97FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.79516113
98* HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.78810130
99TP53_22573176_ChIP-Seq_HFKS_Human0.77545791
100NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.76775930
101VDR_22108803_ChIP-Seq_LS180_Human0.76614664
102NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.76413532
103SMAD1_18555785_ChIP-Seq_MESCs_Mouse0.75859039
104IRF1_19129219_ChIP-ChIP_H3396_Human0.75830388
105SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.75678398
106E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.74559113
107NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.73673358
108SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.72862446
109KLF5_18264089_ChIP-ChIP_MESCs_Mouse0.72567944
110KLF4_18264089_ChIP-ChIP_MESCs_Mouse0.72567944
111KLF2_18264089_ChIP-ChIP_MESCs_Mouse0.72567944
112* TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.71972058
113ZNF274_21170338_ChIP-Seq_K562_Hela0.71740484
114GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.68926504

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003646_muscle_fatigue4.10421771
2MP0009379_abnormal_foot_pigmentation3.51466658
3MP0003693_abnormal_embryo_hatching3.50010521
4MP0002837_dystrophic_cardiac_calcinosis3.09790772
5MP0006036_abnormal_mitochondrial_physio3.08149442
6MP0003806_abnormal_nucleotide_metabolis2.87543359
7MP0004215_abnormal_myocardial_fiber2.70467256
8MP0004957_abnormal_blastocyst_morpholog2.68462717
9MP0006035_abnormal_mitochondrial_morpho2.62064523
10MP0004084_abnormal_cardiac_muscle2.59138861
11MP0001529_abnormal_vocalization2.44223675
12MP0003111_abnormal_nucleus_morphology2.40660670
13MP0003718_maternal_effect2.40448786
14MP0005330_cardiomyopathy2.29583957
15MP0000749_muscle_degeneration2.28893706
16MP0008932_abnormal_embryonic_tissue2.27715384
17MP0004145_abnormal_muscle_electrophysio2.19212290
18MP0008058_abnormal_DNA_repair2.12491892
19MP0000751_myopathy2.07263972
20MP0003077_abnormal_cell_cycle2.06508941
21MP0003137_abnormal_impulse_conducting1.95187535
22MP0010094_abnormal_chromosome_stability1.93402692
23MP0001986_abnormal_taste_sensitivity1.92020756
24MP0003136_yellow_coat_color1.87210824
25MP0008057_abnormal_DNA_replication1.86070323
26MP0003186_abnormal_redox_activity1.85770061
27MP0004036_abnormal_muscle_relaxation1.84688808
28MP0008877_abnormal_DNA_methylation1.81908281
29MP0000750_abnormal_muscle_regeneration1.80420197
30MP0009697_abnormal_copulation1.72656820
31MP0008789_abnormal_olfactory_epithelium1.67899762
32MP0005423_abnormal_somatic_nervous1.64596831
33MP0000566_synostosis1.56662922
34MP0002332_abnormal_exercise_endurance1.55903183
35MP0003786_premature_aging1.54596778
36MP0003315_abnormal_perineum_morphology1.53685281
37MP0006276_abnormal_autonomic_nervous1.52462309
38MP0003123_paternal_imprinting1.51654188
39MP0004142_abnormal_muscle_tone1.50370601
40MP0004133_heterotaxia1.48784405
41MP0001905_abnormal_dopamine_level1.47833846
42MP0002736_abnormal_nociception_after1.42901119
43MP0003011_delayed_dark_adaptation1.41910586
44MP0002269_muscular_atrophy1.41562915
45MP0005266_abnormal_metabolism1.41014353
46MP0003221_abnormal_cardiomyocyte_apopto1.40462785
47MP0002972_abnormal_cardiac_muscle1.34870178
48MP0005670_abnormal_white_adipose1.32779902
49MP0002160_abnormal_reproductive_system1.31759906
50MP0005620_abnormal_muscle_contractility1.28803384
51MP0008995_early_reproductive_senescence1.28094868
52MP0002638_abnormal_pupillary_reflex1.26604303
53MP0002106_abnormal_muscle_physiology1.26127345
54MP0003567_abnormal_fetal_cardiomyocyte1.26118245
55MP0008875_abnormal_xenobiotic_pharmacok1.24950122
56MP0001984_abnormal_olfaction1.22772437
57MP0001293_anophthalmia1.22449687
58MP0006292_abnormal_olfactory_placode1.21527050
59MP0005499_abnormal_olfactory_system1.20644371
60MP0005394_taste/olfaction_phenotype1.20644371
61MP0005084_abnormal_gallbladder_morpholo1.16945003
62MP0005379_endocrine/exocrine_gland_phen1.16624788
63MP0005385_cardiovascular_system_phenoty1.16383209
64MP0001544_abnormal_cardiovascular_syste1.16383209
65MP0009046_muscle_twitch1.16328741
66MP0001188_hyperpigmentation1.16053327
67MP0010030_abnormal_orbit_morphology1.15510510
68MP0003941_abnormal_skin_development1.14216399
69MP0002234_abnormal_pharynx_morphology1.14039201
70MP0003121_genomic_imprinting1.13602395
71MP0001853_heart_inflammation1.12954906
72MP0004484_altered_response_of1.12851923
73MP0003195_calcinosis1.10290679
74MP0002102_abnormal_ear_morphology1.10118394
75MP0008775_abnormal_heart_ventricle1.09296052
76MP0002127_abnormal_cardiovascular_syste1.09097647
77MP0001727_abnormal_embryo_implantation1.08381112
78MP0003880_abnormal_central_pattern1.07822229
79MP0004087_abnormal_muscle_fiber1.07052452
80MP0004147_increased_porphyrin_level1.06329779
81MP0008007_abnormal_cellular_replicative1.02905364
82MP0002090_abnormal_vision1.02349112
83MP0005646_abnormal_pituitary_gland1.02234009
84MP0004043_abnormal_pH_regulation0.98446602
85MP0003950_abnormal_plasma_membrane0.98155417
86MP0002210_abnormal_sex_determination0.96941763
87MP0005377_hearing/vestibular/ear_phenot0.96618526
88MP0003878_abnormal_ear_physiology0.96618526
89MP0005369_muscle_phenotype0.96357504
90MP0005332_abnormal_amino_acid0.96173668
91MP0008872_abnormal_physiological_respon0.95532300
92MP0005636_abnormal_mineral_homeostasis0.95324342
93MP0005389_reproductive_system_phenotype0.95194300
94MP0002132_abnormal_respiratory_system0.92485320
95MP0002277_abnormal_respiratory_mucosa0.92072867
96MP0000631_abnormal_neuroendocrine_gland0.91766642
97MP0005408_hypopigmentation0.91579792
98MP0001764_abnormal_homeostasis0.91079382
99MP0000358_abnormal_cell_content/0.90988312
100MP0000759_abnormal_skeletal_muscle0.90292352
101MP0006138_congestive_heart_failure0.89474312
102MP0001968_abnormal_touch/_nociception0.88606435
103MP0005551_abnormal_eye_electrophysiolog0.88225444
104MP0001485_abnormal_pinna_reflex0.88001451
105MP0005253_abnormal_eye_physiology0.87832775
106MP0004085_abnormal_heartbeat0.87375511
107MP0000049_abnormal_middle_ear0.86689993
108MP0001730_embryonic_growth_arrest0.86589466
109MP0000747_muscle_weakness0.85204832
110MP0005165_increased_susceptibility_to0.84166125
111MP0005451_abnormal_body_composition0.83928959
112MP0000350_abnormal_cell_proliferation0.81227159
113MP0003937_abnormal_limbs/digits/tail_de0.79844956
114MP0001145_abnormal_male_reproductive0.79643215
115MP0010630_abnormal_cardiac_muscle0.77805930
116MP0005395_other_phenotype0.76259939
117MP0005409_darkened_coat_color0.76000679
118MP0006072_abnormal_retinal_apoptosis0.75829061
119MP0003828_pulmonary_edema0.74536892
120MP0002938_white_spotting0.72534706
121MP0005645_abnormal_hypothalamus_physiol0.70790302
122MP0004381_abnormal_hair_follicle0.69933357
123MP0002751_abnormal_autonomic_nervous0.69926512
124MP0000653_abnormal_sex_gland0.69603776
125MP0002233_abnormal_nose_morphology0.69265414
126MP0000313_abnormal_cell_death0.68833452
127MP0002272_abnormal_nervous_system0.68577693
128MP0005075_abnormal_melanosome_morpholog0.67856350
129MP0001929_abnormal_gametogenesis0.67452327
130MP0005376_homeostasis/metabolism_phenot0.66507729
131MP0003122_maternal_imprinting0.66370438
132MP0009745_abnormal_behavioral_response0.66042560
133MP0002163_abnormal_gland_morphology0.65320450
134MP0000372_irregular_coat_pigmentation0.65207336
135MP0001697_abnormal_embryo_size0.65013612
136MP0003938_abnormal_ear_development0.64027894
137MP0003119_abnormal_digestive_system0.63320396
138MP0001672_abnormal_embryogenesis/_devel0.61692319

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)6.31255163
2Abnormal mitochondria in muscle tissue (HP:0008316)5.80298444
3Mitochondrial inheritance (HP:0001427)5.61312564
4Acute encephalopathy (HP:0006846)5.31296602
5Hepatocellular necrosis (HP:0001404)5.23571795
6Muscle abnormality related to mitochondrial dysfunction (HP:0003800)5.16724244
7Progressive macrocephaly (HP:0004481)5.11508574
8Hepatic necrosis (HP:0002605)5.08369452
9Increased CSF lactate (HP:0002490)5.03740526
10Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)4.89684482
11Abnormal activity of mitochondrial respiratory chain (HP:0011922)4.85039737
12Decreased activity of mitochondrial respiratory chain (HP:0008972)4.85039737
13Progressive external ophthalmoplegia (HP:0000590)4.55431220
14Increased hepatocellular lipid droplets (HP:0006565)4.46802525
15Exercise intolerance (HP:0003546)4.26724423
16Lipid accumulation in hepatocytes (HP:0006561)4.21950366
17Increased serum lactate (HP:0002151)4.14105690
18Increased intramyocellular lipid droplets (HP:0012240)4.12281600
19Cerebral edema (HP:0002181)4.09401948
20Lactic acidosis (HP:0003128)3.98568344
21Increased muscle lipid content (HP:0009058)3.76974472
22Respiratory failure (HP:0002878)3.72375948
23Renal Fanconi syndrome (HP:0001994)3.70011626
24Abnormality of glycolysis (HP:0004366)3.62749217
25Increased serum pyruvate (HP:0003542)3.62749217
263-Methylglutaconic aciduria (HP:0003535)3.62692671
27Breast hypoplasia (HP:0003187)3.44919674
28Reticulocytopenia (HP:0001896)3.39365382
29Abnormality of cells of the erythroid lineage (HP:0012130)3.32480699
30Abnormal number of erythroid precursors (HP:0012131)3.22898482
31Optic disc pallor (HP:0000543)3.20148617
32Macrocytic anemia (HP:0001972)3.08254841
33Duplicated collecting system (HP:0000081)3.00426089
34Exertional dyspnea (HP:0002875)2.98384652
35Leukodystrophy (HP:0002415)2.96050208
36Proximal tubulopathy (HP:0000114)2.91755642
37Respiratory difficulties (HP:0002880)2.74585942
38Progressive muscle weakness (HP:0003323)2.71875088
39Type I transferrin isoform profile (HP:0003642)2.70273905
40Birth length less than 3rd percentile (HP:0003561)2.70071131
41CNS demyelination (HP:0007305)2.69700491
42Palpitations (HP:0001962)2.68427361
43Abnormality of alanine metabolism (HP:0010916)2.66672347
44Hyperalaninemia (HP:0003348)2.66672347
45Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.66672347
46Rhabdomyolysis (HP:0003201)2.63803081
47Cerebral hypomyelination (HP:0006808)2.62723788
48Lethargy (HP:0001254)2.58092748
49Hyperglycinemia (HP:0002154)2.56232752
50Microvesicular hepatic steatosis (HP:0001414)2.51769921
51Abnormality of the renal collecting system (HP:0004742)2.47123259
52Sudden death (HP:0001699)2.44977363
53Abnormality of dicarboxylic acid metabolism (HP:0010995)2.41930106
54Dicarboxylic aciduria (HP:0003215)2.41930106
55External ophthalmoplegia (HP:0000544)2.41679176
56Emotional lability (HP:0000712)2.39565776
57Abnormality of renal resorption (HP:0011038)2.33901183
58Carpal bone hypoplasia (HP:0001498)2.32497639
59Pallor (HP:0000980)2.30962447
60Nausea (HP:0002018)2.28880314
61Glycosuria (HP:0003076)2.26354122
62Abnormality of urine glucose concentration (HP:0011016)2.26354122
63Methylmalonic acidemia (HP:0002912)2.22603875
64Myoglobinuria (HP:0002913)2.21778124
65Aplasia/Hypoplasia of the sacrum (HP:0008517)2.21228250
66Aplastic anemia (HP:0001915)2.16554986
67Abnormality of the anterior horn cell (HP:0006802)2.13850620
68Degeneration of anterior horn cells (HP:0002398)2.13850620
69Oral leukoplakia (HP:0002745)2.10244475
70Ventricular tachycardia (HP:0004756)2.09871844
71Abnormality of serum amino acid levels (HP:0003112)2.07677568
72Abnormal protein glycosylation (HP:0012346)2.06812680
73Abnormal glycosylation (HP:0012345)2.06812680
74Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.06812680
75Abnormal protein N-linked glycosylation (HP:0012347)2.06812680
76Testicular atrophy (HP:0000029)2.06088579
77Colon cancer (HP:0003003)2.04698205
78Hyperphosphaturia (HP:0003109)2.01458820
79Muscle hypertrophy of the lower extremities (HP:0008968)2.01110525
80Calf muscle hypertrophy (HP:0008981)1.99063366
81Unsteady gait (HP:0002317)1.98416073
82Generalized aminoaciduria (HP:0002909)1.97723419
83Reduced antithrombin III activity (HP:0001976)1.97158864
84Pancytopenia (HP:0001876)1.96437555
85Myokymia (HP:0002411)1.91761446
86Aplasia/Hypoplasia involving the musculature (HP:0001460)1.89913566
87Methylmalonic aciduria (HP:0012120)1.89207207
88Absent thumb (HP:0009777)1.84848418
89Multiple enchondromatosis (HP:0005701)1.84777682
90Gout (HP:0001997)1.84245893
91X-linked dominant inheritance (HP:0001423)1.83837998
92Rough bone trabeculation (HP:0100670)1.83472918
93Abnormality of glycine metabolism (HP:0010895)1.82352170
94Abnormality of serine family amino acid metabolism (HP:0010894)1.82352170
95Secondary amenorrhea (HP:0000869)1.81431197
96Abnormality of methionine metabolism (HP:0010901)1.79794645
97Congenital nonbullous ichthyosiform erythroderma (HP:0007479)1.78365232
98Abnormality of the labia minora (HP:0012880)1.78348612
99Aplasia/hypoplasia of the uterus (HP:0008684)1.78336232
100Aplasia/Hypoplasia involving the carpal bones (HP:0006502)1.76505071
101Cleft eyelid (HP:0000625)1.75305488
102Muscle fiber splitting (HP:0003555)1.74990078
103Hypoglycemic coma (HP:0001325)1.74947749
104Meckel diverticulum (HP:0002245)1.73367203
105Congenital, generalized hypertrichosis (HP:0004540)1.72182644
106Gliosis (HP:0002171)1.70929504
107Ureteral duplication (HP:0000073)1.69164540
108Hyperglycinuria (HP:0003108)1.69086537
109Transposition of the great arteries (HP:0001669)1.68707512
110Abnormal connection of the cardiac segments (HP:0011545)1.68707512
111Abnormal ventriculo-arterial connection (HP:0011563)1.68707512
112Absent radius (HP:0003974)1.66724943
113Lipoatrophy (HP:0100578)1.65951990
114Microretrognathia (HP:0000308)1.65770399
115Abnormality of the ileum (HP:0001549)1.65642861
116Neuroendocrine neoplasm (HP:0100634)1.65027326
117Abnormal urine phosphate concentration (HP:0012599)1.64918920
118Vomiting (HP:0002013)1.64491135
119Amniotic constriction ring (HP:0009775)1.63995176
120Abnormality of placental membranes (HP:0011409)1.63995176
121Neoplasm of the adrenal gland (HP:0100631)1.63484190
122Sparse eyelashes (HP:0000653)1.63191598
123Acute lymphatic leukemia (HP:0006721)1.63153133
124Ragged-red muscle fibers (HP:0003200)1.62748350
125Poor suck (HP:0002033)1.62540313
126Blindness (HP:0000618)1.60777489
127Megaloblastic anemia (HP:0001889)1.60416149
128Pulmonary artery stenosis (HP:0004415)1.59872721
129Aplasia involving forearm bones (HP:0009822)1.58658048
130Triphalangeal thumb (HP:0001199)1.58471040
131Horseshoe kidney (HP:0000085)1.57488311
132Pancreatic fibrosis (HP:0100732)1.54325182
133Abnormality of aspartate family amino acid metabolism (HP:0010899)1.53744564

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB14.56651386
2IRAK34.49796723
3VRK24.40991920
4STK164.24004047
5PLK43.80543415
6ZAK3.14554711
7WEE13.10595235
8EIF2AK13.10373692
9MARK12.85919412
10TLK12.66524226
11NME22.43298178
12NME12.32095268
13SRPK12.21990327
14IRAK22.10261142
15BCKDK2.07807346
16VRK11.88191993
17PNCK1.80639942
18TESK21.79573792
19IRAK41.76080604
20TTK1.71089189
21EIF2AK31.69490234
22OBSCN1.61188607
23IRAK11.60090872
24MYLK1.50988828
25NUAK11.47570083
26PBK1.35251311
27EPHA21.34400275
28KDR1.30637389
29TRIM281.25643522
30NEK11.22952175
31MAP4K21.19987958
32STK38L1.16482812
33CDC71.16107538
34MUSK1.14619149
35PLK11.13277362
36CSNK1G31.12382777
37DYRK31.09431676
38LIMK11.06853263
39BRAF1.06558715
40ABL21.01141317
41AURKA1.00470952
42ARAF0.95921201
43CSNK1G20.95314291
44DYRK20.94404997
45CSNK1G10.92867476
46CDC42BPA0.92290921
47TSSK60.92214629
48BRSK20.88871450
49PINK10.88285197
50TAF10.87613530
51CAMK2D0.87244040
52PLK30.85723334
53GRK70.84783595
54MAP3K110.83851457
55LATS20.83378700
56BMPR1B0.81152160
57ACVR1B0.80755760
58PRKCI0.80336667
59PDK30.79361455
60PDK40.79361455
61MAPKAPK30.77925511
62SCYL20.77023988
63CSNK1A1L0.76829680
64AURKB0.75074525
65DAPK10.74473482
66CAMK2G0.72482437
67PHKG10.72346803
68PHKG20.72346803
69EIF2AK20.72343453
70GRK10.71755930
71LMTK20.71223454
72TESK10.65069612
73CAMK2B0.64841995
74STK390.63671679
75INSRR0.63256987
76MKNK10.62985914
77RPS6KB20.61796314
78MAP2K70.61569000
79PIM20.61077861
80WNK40.59559572
81CSNK2A10.59403981
82RPS6KA50.58144418
83ATR0.56662494
84LRRK20.56502410
85DAPK30.55194797
86CHEK20.53997320
87STK40.53455168
88CSNK2A20.53402770
89MKNK20.51905825
90MST40.50411309
91STK240.49870535
92ROCK20.49270195
93BRSK10.48900753
94PRKCG0.47530921
95CDK190.47148477
96PAK10.46393027
97PAK40.44295976
98PASK0.43749713
99RPS6KA40.43673557
100PDK20.43595763
101ILK0.43359211
102ATM0.43213773
103CDK70.41307946
104BCR0.40883130
105MAP3K40.40749239
106MINK10.39962527
107MAPKAPK50.39801682
108MAP3K80.38651085
109PIK3CA0.37681160
110MAP3K120.36443468
111AKT20.35991078
112CSNK1A10.35843664
113CAMK2A0.34381602
114TNIK0.31902010
115CSNK1E0.31027589
116AKT30.30786621
117WNK30.30615229
118CHEK10.29155864
119OXSR10.28993545
120CDK140.28650726
121CDK80.28126109
122CCNB10.28100543
123ADRBK20.25473538
124PLK20.24989885
125ROCK10.24880956
126MAPK40.23714554

Predicted pathways (KEGG)

RankGene SetZ-score
1* Oxidative phosphorylation_Homo sapiens_hsa001904.82478084
2Ribosome_Homo sapiens_hsa030104.57230552
3Parkinsons disease_Homo sapiens_hsa050124.37903459
4Proteasome_Homo sapiens_hsa030504.05739655
5RNA polymerase_Homo sapiens_hsa030203.50291282
6Huntingtons disease_Homo sapiens_hsa050163.35733212
7Alzheimers disease_Homo sapiens_hsa050103.02068933
8DNA replication_Homo sapiens_hsa030302.93306525
9* Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.69054224
10Mismatch repair_Homo sapiens_hsa034302.55636475
11Cardiac muscle contraction_Homo sapiens_hsa042602.55385493
12Pyrimidine metabolism_Homo sapiens_hsa002402.47123620
13Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.23962101
14Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.21022814
15Spliceosome_Homo sapiens_hsa030402.17439634
16Homologous recombination_Homo sapiens_hsa034402.05121065
17Nucleotide excision repair_Homo sapiens_hsa034201.85025460
18Protein export_Homo sapiens_hsa030601.59326474
19RNA transport_Homo sapiens_hsa030131.55533966
20Fanconi anemia pathway_Homo sapiens_hsa034601.54395094
21Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.50549598
22Propanoate metabolism_Homo sapiens_hsa006401.45401667
23Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.42384564
24Purine metabolism_Homo sapiens_hsa002301.42077100
252-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.39276082
26Base excision repair_Homo sapiens_hsa034101.37887658
27Basal transcription factors_Homo sapiens_hsa030221.36698224
28Carbon metabolism_Homo sapiens_hsa012001.27389429
29One carbon pool by folate_Homo sapiens_hsa006701.24861779
30RNA degradation_Homo sapiens_hsa030181.23954032
31Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.20767080
32Glutathione metabolism_Homo sapiens_hsa004801.11668961
33Folate biosynthesis_Homo sapiens_hsa007901.11127013
34Pyruvate metabolism_Homo sapiens_hsa006201.09257261
35Fatty acid elongation_Homo sapiens_hsa000621.05700082
36Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.04751182
37Cysteine and methionine metabolism_Homo sapiens_hsa002701.03200703
38Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.00614169
39Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.95450776
40* Metabolic pathways_Homo sapiens_hsa011000.93242871
41Cell cycle_Homo sapiens_hsa041100.93090305
42Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.90943868
43Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.85339387
44Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.85305216
45Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.82830537
46Biosynthesis of amino acids_Homo sapiens_hsa012300.81634801
47Non-homologous end-joining_Homo sapiens_hsa034500.77550557
48Arginine and proline metabolism_Homo sapiens_hsa003300.75108630
49Sulfur relay system_Homo sapiens_hsa041220.73644411
50Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.72471630
51Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.71705500
52Steroid biosynthesis_Homo sapiens_hsa001000.70893043
53Pentose phosphate pathway_Homo sapiens_hsa000300.66112035
54Fatty acid degradation_Homo sapiens_hsa000710.65248958
55Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.65014906
56Phenylalanine metabolism_Homo sapiens_hsa003600.62164124
57Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.61146959
58Epstein-Barr virus infection_Homo sapiens_hsa051690.61067501
59Arachidonic acid metabolism_Homo sapiens_hsa005900.59917155
60Cyanoamino acid metabolism_Homo sapiens_hsa004600.59210169
61Tyrosine metabolism_Homo sapiens_hsa003500.57981763
62Peroxisome_Homo sapiens_hsa041460.56459935
63p53 signaling pathway_Homo sapiens_hsa041150.56399648
64Drug metabolism - other enzymes_Homo sapiens_hsa009830.55862090
65Butanoate metabolism_Homo sapiens_hsa006500.53577586
66beta-Alanine metabolism_Homo sapiens_hsa004100.51338248
67Sulfur metabolism_Homo sapiens_hsa009200.50615283
68Linoleic acid metabolism_Homo sapiens_hsa005910.50585031
69Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.43536287
70Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.41812800
71Fructose and mannose metabolism_Homo sapiens_hsa000510.41306157
72Fatty acid metabolism_Homo sapiens_hsa012120.39355100
73N-Glycan biosynthesis_Homo sapiens_hsa005100.37821819
74Phototransduction_Homo sapiens_hsa047440.37686367
75Systemic lupus erythematosus_Homo sapiens_hsa053220.35279659
76mRNA surveillance pathway_Homo sapiens_hsa030150.34154818
77Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.33601844
78Arginine biosynthesis_Homo sapiens_hsa002200.33329866
79Oocyte meiosis_Homo sapiens_hsa041140.33029461
80Caffeine metabolism_Homo sapiens_hsa002320.32522697
81alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.30615189
82Vitamin B6 metabolism_Homo sapiens_hsa007500.30536091
83Maturity onset diabetes of the young_Homo sapiens_hsa049500.30240315
84Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.30162929
85Galactose metabolism_Homo sapiens_hsa000520.29887363
86Collecting duct acid secretion_Homo sapiens_hsa049660.27673565
87Vitamin digestion and absorption_Homo sapiens_hsa049770.26843518
88Primary bile acid biosynthesis_Homo sapiens_hsa001200.25487881
89Nitrogen metabolism_Homo sapiens_hsa009100.25326107
90Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.24075642
91Regulation of autophagy_Homo sapiens_hsa041400.23854583
92SNARE interactions in vesicular transport_Homo sapiens_hsa041300.22953861
93Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.22017011
94Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.21314118
95Ether lipid metabolism_Homo sapiens_hsa005650.19788698
96Mineral absorption_Homo sapiens_hsa049780.19492491
97Dilated cardiomyopathy_Homo sapiens_hsa054140.16495555
98Steroid hormone biosynthesis_Homo sapiens_hsa001400.15792177
99Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.15284523
100Fat digestion and absorption_Homo sapiens_hsa049750.15222199
101Synaptic vesicle cycle_Homo sapiens_hsa047210.14233399
102Chemical carcinogenesis_Homo sapiens_hsa052040.14100657
103Selenocompound metabolism_Homo sapiens_hsa004500.11987874
104Retinol metabolism_Homo sapiens_hsa008300.10249120
105Tryptophan metabolism_Homo sapiens_hsa003800.09158145
106Vibrio cholerae infection_Homo sapiens_hsa051100.08319538
107Histidine metabolism_Homo sapiens_hsa003400.07472590
108Sphingolipid metabolism_Homo sapiens_hsa006000.05633621
109Pentose and glucuronate interconversions_Homo sapiens_hsa000400.03023414
110Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.01755502
111Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.01710121
112Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914-0.0168144
113Glycerophospholipid metabolism_Homo sapiens_hsa00564-0.0064968
114Starch and sucrose metabolism_Homo sapiens_hsa00500-0.0047678

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