TIMM23

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: The protein encoded by this gene is part of a complex located in the inner mitochondrial membrane that mediates the transport of transit peptide-containing proteins across the membrane. Multiple transcript variants, one protein-coding and others not protein-coding, have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1purine nucleobase biosynthetic process (GO:0009113)5.37774139
2proteasome assembly (GO:0043248)5.28962744
3nucleobase biosynthetic process (GO:0046112)5.10884727
4DNA deamination (GO:0045006)4.80612585
5ribosome assembly (GO:0042255)4.73029920
6chaperone-mediated protein transport (GO:0072321)4.69887622
7negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)4.44077900
8rRNA modification (GO:0000154)4.38207289
9positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)4.35804561
10anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:04.33651936
11regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)4.30122672
12mitotic metaphase plate congression (GO:0007080)4.28069254
13formation of translation preinitiation complex (GO:0001731)4.27600948
14ribosome biogenesis (GO:0042254)4.21751045
15maturation of SSU-rRNA (GO:0030490)4.21386001
16establishment of integrated proviral latency (GO:0075713)4.14550168
17transcription elongation from RNA polymerase III promoter (GO:0006385)4.14146738
18termination of RNA polymerase III transcription (GO:0006386)4.14146738
19DNA replication checkpoint (GO:0000076)4.12691112
20negative regulation of ubiquitin-protein transferase activity (GO:0051444)4.00831053
21negative regulation of ligase activity (GO:0051352)4.00831053
22ribosomal large subunit biogenesis (GO:0042273)3.99686737
23folic acid metabolic process (GO:0046655)3.97522359
24regulation of cellular amino acid metabolic process (GO:0006521)3.94085499
257-methylguanosine mRNA capping (GO:0006370)3.91960114
26positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.90817024
27ribonucleoprotein complex biogenesis (GO:0022613)3.90115748
28mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.88117039
29DNA strand elongation involved in DNA replication (GO:0006271)3.86525613
307-methylguanosine RNA capping (GO:0009452)3.82735151
31RNA capping (GO:0036260)3.82735151
32DNA replication initiation (GO:0006270)3.81266493
33spliceosomal snRNP assembly (GO:0000387)3.74123004
34DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.72923895
35regulation of mitochondrial translation (GO:0070129)3.72873893
36positive regulation of ligase activity (GO:0051351)3.70686402
37mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.70589220
38signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.68861326
39signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.68861326
40signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.68861326
41cullin deneddylation (GO:0010388)3.68110711
42signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.66969830
43intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.66969830
44rRNA processing (GO:0006364)3.65914529
45DNA strand elongation (GO:0022616)3.65813674
46protein deneddylation (GO:0000338)3.65608714
47signal transduction involved in DNA integrity checkpoint (GO:0072401)3.65137162
48signal transduction involved in DNA damage checkpoint (GO:0072422)3.65137162
49establishment of protein localization to mitochondrial membrane (GO:0090151)3.65051622
50telomere maintenance via semi-conservative replication (GO:0032201)3.61382500
51signal transduction involved in cell cycle checkpoint (GO:0072395)3.59619631
52L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.58775865
53amino acid salvage (GO:0043102)3.58265464
54L-methionine salvage (GO:0071267)3.58265464
55L-methionine biosynthetic process (GO:0071265)3.58265464
56* protein targeting to mitochondrion (GO:0006626)3.55967688
57CENP-A containing nucleosome assembly (GO:0034080)3.55364288
58transcription elongation from RNA polymerase I promoter (GO:0006362)3.52798507
59termination of RNA polymerase I transcription (GO:0006363)3.52300022
60rRNA metabolic process (GO:0016072)3.52118739
61transcription from RNA polymerase I promoter (GO:0006360)3.51188323
62respiratory electron transport chain (GO:0022904)3.47295068
63pseudouridine synthesis (GO:0001522)3.45887026
64regulation of ubiquitin-protein transferase activity (GO:0051438)3.45360325
65maturation of 5.8S rRNA (GO:0000460)3.43105257
66regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)3.42607301
67chromatin remodeling at centromere (GO:0031055)3.41774161
68metaphase plate congression (GO:0051310)3.40236208
69ATP synthesis coupled proton transport (GO:0015986)3.40195085
70energy coupled proton transport, down electrochemical gradient (GO:0015985)3.40195085
71transcription-coupled nucleotide-excision repair (GO:0006283)3.39438925
72cell cycle G1/S phase transition (GO:0044843)3.39394358
73G1/S transition of mitotic cell cycle (GO:0000082)3.39394358
74ribosomal small subunit assembly (GO:0000028)3.38705271
75electron transport chain (GO:0022900)3.38455561
76antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:3.35806325
77establishment of viral latency (GO:0019043)3.33513048
78rRNA methylation (GO:0031167)3.33460259
79tRNA aminoacylation for protein translation (GO:0006418)3.32698653
80regulation of ligase activity (GO:0051340)3.30412472
81cellular component biogenesis (GO:0044085)3.30179364
82respiratory chain complex IV assembly (GO:0008535)3.29269879
83tRNA aminoacylation (GO:0043039)3.29044955
84amino acid activation (GO:0043038)3.29044955
85telomere maintenance via recombination (GO:0000722)3.28820598
86* protein localization to mitochondrion (GO:0070585)3.23364935
87ribosomal small subunit biogenesis (GO:0042274)3.22095889
88mitochondrial respiratory chain complex assembly (GO:0033108)3.20106877
89DNA double-strand break processing (GO:0000729)3.18909574
90translational initiation (GO:0006413)3.18176486
91protein complex biogenesis (GO:0070271)3.17865157
92DNA replication-dependent nucleosome assembly (GO:0006335)3.17573295
93DNA replication-dependent nucleosome organization (GO:0034723)3.17573295
94translation (GO:0006412)3.17098952
95mitochondrial RNA metabolic process (GO:0000959)3.16195312
96exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.15677625
97IMP biosynthetic process (GO:0006188)3.15646745
98antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)3.13882627
99DNA damage response, detection of DNA damage (GO:0042769)3.12758004
100transcription from mitochondrial promoter (GO:0006390)3.12643725
101regulation of cellular amine metabolic process (GO:0033238)3.12570042
102regulation of translation in response to stress (GO:0043555)3.12364643
103nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.10410861
104negative regulation of protein ubiquitination (GO:0031397)3.09744903
105DNA replication-independent nucleosome organization (GO:0034724)3.09481641
106DNA replication-independent nucleosome assembly (GO:0006336)3.09481641
107mitotic nuclear envelope disassembly (GO:0007077)3.09335836
108peptidyl-histidine modification (GO:0018202)3.09332944
109transcription initiation from RNA polymerase I promoter (GO:0006361)3.08956026
110oxidative phosphorylation (GO:0006119)3.08779700
111protein neddylation (GO:0045116)3.08185290
112mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.08096094
113mitochondrial respiratory chain complex I assembly (GO:0032981)3.08096094
114NADH dehydrogenase complex assembly (GO:0010257)3.08096094
115regulation of spindle organization (GO:0090224)3.07581605
116DNA catabolic process, exonucleolytic (GO:0000738)3.03652582
117positive regulation of cell cycle arrest (GO:0071158)3.03476461
118transcription elongation from RNA polymerase II promoter (GO:0006368)3.02717240
119spliceosomal complex assembly (GO:0000245)3.02167424
120* establishment of protein localization to mitochondrion (GO:0072655)3.01223373
121protein maturation by protein folding (GO:0022417)3.00442185
122deoxyribonucleoside monophosphate metabolic process (GO:0009162)2.99676630
123nucleobase-containing small molecule interconversion (GO:0015949)2.98877755
124mitotic recombination (GO:0006312)2.98796518
125methionine biosynthetic process (GO:0009086)2.98454158
126protein localization to kinetochore (GO:0034501)2.98417685
127guanosine-containing compound biosynthetic process (GO:1901070)2.97109780
128tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.96890072
129RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.96890072
130histone exchange (GO:0043486)2.96019651
131DNA damage response, signal transduction by p53 class mediator (GO:0030330)2.95694674

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human5.76552678
2* MYC_18555785_ChIP-Seq_MESCs_Mouse4.38364588
3* KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.22443414
4* EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.82190922
5* JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.81779019
6GABP_17652178_ChIP-ChIP_JURKAT_Human3.77630338
7EST1_17652178_ChIP-ChIP_JURKAT_Human3.67991880
8ETS1_20019798_ChIP-Seq_JURKAT_Human3.60053873
9CREB1_15753290_ChIP-ChIP_HEK293T_Human3.52961316
10E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.34767800
11* MYC_18358816_ChIP-ChIP_MESCs_Mouse3.12917981
12MYC_19079543_ChIP-ChIP_MESCs_Mouse3.01809682
13* MYC_19030024_ChIP-ChIP_MESCs_Mouse2.98360244
14E2F4_17652178_ChIP-ChIP_JURKAT_Human2.93203853
15NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.83286263
16FOXM1_23109430_ChIP-Seq_U2OS_Human2.67595446
17VDR_23849224_ChIP-Seq_CD4+_Human2.57688113
18FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.57450628
19HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.53509102
20* CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.52604391
21NELFA_20434984_ChIP-Seq_ESCs_Mouse2.46178467
22CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.45578585
23HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.38836764
24DCP1A_22483619_ChIP-Seq_HELA_Human2.35008136
25XRN2_22483619_ChIP-Seq_HELA_Human2.33006247
26E2F1_18555785_ChIP-Seq_MESCs_Mouse2.30631133
27MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.18575214
28GABP_19822575_ChIP-Seq_HepG2_Human2.15550523
29THAP11_20581084_ChIP-Seq_MESCs_Mouse2.05337846
30FOXP3_21729870_ChIP-Seq_TREG_Human2.05205465
31YY1_21170310_ChIP-Seq_MESCs_Mouse2.04058626
32SRF_21415370_ChIP-Seq_HL-1_Mouse2.00137600
33AR_21909140_ChIP-Seq_LNCAP_Human1.99465697
34NANOG_18555785_ChIP-Seq_MESCs_Mouse1.98418054
35POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.94070215
36ELF1_17652178_ChIP-ChIP_JURKAT_Human1.92753586
37PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.88784292
38* MYCN_18555785_ChIP-Seq_MESCs_Mouse1.88486949
39TTF2_22483619_ChIP-Seq_HELA_Human1.80857538
40SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.74699373
41MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.74652546
42FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.72461076
43ELK1_19687146_ChIP-ChIP_HELA_Human1.72142080
44PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.71741947
45ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.65805156
46YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.65782394
47E2F1_21310950_ChIP-Seq_MCF-7_Human1.53677419
48ZFX_18555785_ChIP-Seq_MESCs_Mouse1.49779670
49* SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.48389983
50KDM5A_27292631_Chip-Seq_BREAST_Human1.42906556
51HOXB4_20404135_ChIP-ChIP_EML_Mouse1.41366260
52MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.36806723
53STAT3_1855785_ChIP-Seq_MESCs_Mouse1.36253152
54TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.32012034
55POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.30648391
56BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.30152620
57POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.29082991
58ELK1_22589737_ChIP-Seq_MCF10A_Human1.28662341
59CIITA_25753668_ChIP-Seq_RAJI_Human1.26679403
60* KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.25759009
61PADI4_21655091_ChIP-ChIP_MCF-7_Human1.22631545
62TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.21926106
63FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.18464290
64DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.18272576
65KLF4_18555785_ChIP-Seq_MESCs_Mouse1.17954245
66PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.14577925
67ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.13708081
68CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.11022069
69ZNF263_19887448_ChIP-Seq_K562_Human1.10681326
70ERG_20887958_ChIP-Seq_HPC-7_Mouse1.09228471
71SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.08983859
72NOTCH1_21737748_ChIP-Seq_TLL_Human1.04584317
73CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.02797021
74CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.01715239
75SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.01675463
76CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.01535340
77PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.00928254
78DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.99424903
79TFEB_21752829_ChIP-Seq_HELA_Human0.99277534
80E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.99075724
81CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.96743283
82MYC_18940864_ChIP-ChIP_HL60_Human0.95173255
83SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.95171143
84KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.94721102
85HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.93912796
86* NANOG_16153702_ChIP-ChIP_HESCs_Human0.93654442
87* CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.92723418
88KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.89828910
89HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.88077689
90OCT4_18692474_ChIP-Seq_MEFs_Mouse0.87520760
91SOX2_18555785_ChIP-Seq_MESCs_Mouse0.86609904
92SOX17_20123909_ChIP-Seq_XEN_Mouse0.85373282
93CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.84126044
94SOX2_18692474_ChIP-Seq_MEFs_Mouse0.83438236
95ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.80195170
96NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.79689199
97* TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.79660635
98NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.79656869
99NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.78739706
100CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.78416564
101NANOG_21062744_ChIP-ChIP_HESCs_Human0.78006397
102* TBX5_21415370_ChIP-Seq_HL-1_Mouse0.77394089
103GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.76497937
104NACC1_18358816_ChIP-ChIP_MESCs_Mouse0.75380722
105TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse0.75047058
106ELF5_23300383_ChIP-Seq_T47D_Human0.71226116
107SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.69372172
108* SOX2_16153702_ChIP-ChIP_HESCs_Human0.68334019
109SALL1_21062744_ChIP-ChIP_HESCs_Human0.67942011
110HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.66449924
111FOXP1_21924763_ChIP-Seq_HESCs_Human0.65484190

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching6.23516201
2MP0004957_abnormal_blastocyst_morpholog4.73582749
3MP0003111_abnormal_nucleus_morphology4.50961723
4MP0010094_abnormal_chromosome_stability3.98930341
5MP0003077_abnormal_cell_cycle3.74058743
6MP0003718_maternal_effect3.50816807
7MP0008058_abnormal_DNA_repair3.25734188
8MP0003806_abnormal_nucleotide_metabolis3.16187716
9MP0003646_muscle_fatigue3.06556433
10MP0008057_abnormal_DNA_replication3.05169749
11MP0008932_abnormal_embryonic_tissue2.74213065
12MP0003123_paternal_imprinting2.61227845
13MP0006036_abnormal_mitochondrial_physio2.35336750
14MP0008007_abnormal_cellular_replicative2.34965033
15MP0001730_embryonic_growth_arrest2.26395130
16MP0003186_abnormal_redox_activity2.17468134
17MP0006292_abnormal_olfactory_placode2.06180580
18MP0004084_abnormal_cardiac_muscle2.01993738
19MP0008877_abnormal_DNA_methylation1.99568570
20MP0008260_abnormal_autophagy1.99108189
21MP0006035_abnormal_mitochondrial_morpho1.97451361
22* MP0003786_premature_aging1.89112870
23MP0003221_abnormal_cardiomyocyte_apopto1.78931965
24MP0008789_abnormal_olfactory_epithelium1.78794732
25MP0000350_abnormal_cell_proliferation1.73686450
26MP0000372_irregular_coat_pigmentation1.72473751
27MP0000750_abnormal_muscle_regeneration1.65508343
28MP0001672_abnormal_embryogenesis/_devel1.63115532
29MP0005380_embryogenesis_phenotype1.63115532
30MP0005451_abnormal_body_composition1.60284354
31MP0001697_abnormal_embryo_size1.51679263
32MP0009840_abnormal_foam_cell1.50761362
33MP0003984_embryonic_growth_retardation1.49684295
34MP0009333_abnormal_splenocyte_physiolog1.49082361
35MP0002088_abnormal_embryonic_growth/wei1.45664321
36* MP0002080_prenatal_lethality1.42805894
37MP0003567_abnormal_fetal_cardiomyocyte1.39094628
38MP0001293_anophthalmia1.35293435
39MP0005330_cardiomyopathy1.34398355
40MP0000358_abnormal_cell_content/1.34066655
41MP0004215_abnormal_myocardial_fiber1.28329672
42MP0001764_abnormal_homeostasis1.26033869
43MP0002396_abnormal_hematopoietic_system1.25857595
44MP0005395_other_phenotype1.21779663
45MP0002269_muscular_atrophy1.21048580
46MP0000313_abnormal_cell_death1.20447283
47MP0002210_abnormal_sex_determination1.20220506
48MP0003315_abnormal_perineum_morphology1.18256084
49MP0002132_abnormal_respiratory_system1.14802787
50MP0006072_abnormal_retinal_apoptosis1.14648070
51MP0004036_abnormal_muscle_relaxation1.13893189
52MP0002938_white_spotting1.12550522
53MP0001727_abnormal_embryo_implantation1.11389098
54MP0000749_muscle_degeneration1.10056770
55MP0010307_abnormal_tumor_latency1.08305307
56MP0002085_abnormal_embryonic_tissue1.07792142
57MP0001542_abnormal_bone_strength1.07524426
58MP0002234_abnormal_pharynx_morphology1.06952783
59MP0001145_abnormal_male_reproductive1.06377028
60MP0001661_extended_life_span1.06138680
61MP0005394_taste/olfaction_phenotype1.06125965
62MP0005499_abnormal_olfactory_system1.06125965
63MP0005266_abnormal_metabolism1.05592247
64MP0002019_abnormal_tumor_incidence1.01986679
65MP0002086_abnormal_extraembryonic_tissu0.99805781
66MP0002837_dystrophic_cardiac_calcinosis0.98407317
67MP0010030_abnormal_orbit_morphology0.97343375
68MP0002736_abnormal_nociception_after0.97233317
69MP0001929_abnormal_gametogenesis0.96921184
70MP0002160_abnormal_reproductive_system0.96504529
71MP0008875_abnormal_xenobiotic_pharmacok0.94494944
72MP0000490_abnormal_crypts_of0.94134736
73MP0000653_abnormal_sex_gland0.93736739
74MP0008995_early_reproductive_senescence0.91916486
75MP0004233_abnormal_muscle_weight0.91710984
76MP0003656_abnormal_erythrocyte_physiolo0.91298628
77MP0000647_abnormal_sebaceous_gland0.90516101
78MP0009697_abnormal_copulation0.89887273
79MP0003937_abnormal_limbs/digits/tail_de0.88215818
80MP0005332_abnormal_amino_acid0.87373271
81MP0005670_abnormal_white_adipose0.87350307
82MP0005377_hearing/vestibular/ear_phenot0.87069719
83MP0003878_abnormal_ear_physiology0.87069719
84MP0005389_reproductive_system_phenotype0.86408545
85MP0004145_abnormal_muscle_electrophysio0.86365414
86MP0000747_muscle_weakness0.84702314
87MP0010352_gastrointestinal_tract_polyps0.83726753
88MP0001529_abnormal_vocalization0.82679231
89MP0002163_abnormal_gland_morphology0.82499486
90MP0005084_abnormal_gallbladder_morpholo0.81990907
91MP0003941_abnormal_skin_development0.81463577
92MP0005501_abnormal_skin_physiology0.81239577
93MP0002084_abnormal_developmental_patter0.80982149
94MP0002127_abnormal_cardiovascular_syste0.80260288
95MP0001853_heart_inflammation0.80141854
96MP0001119_abnormal_female_reproductive0.80088481
97MP0004147_increased_porphyrin_level0.79477956
98MP0003950_abnormal_plasma_membrane0.78988461
99MP0005384_cellular_phenotype0.78245066
100MP0002332_abnormal_exercise_endurance0.76883133
101MP0006138_congestive_heart_failure0.75416208
102MP0002106_abnormal_muscle_physiology0.74626744
103MP0009672_abnormal_birth_weight0.73953691
104MP0004197_abnormal_fetal_growth/weight/0.73796156
105MP0002090_abnormal_vision0.73274745
106MP0001544_abnormal_cardiovascular_syste0.72604212
107MP0005385_cardiovascular_system_phenoty0.72604212
108MP0001881_abnormal_mammary_gland0.71785056
109MP0002102_abnormal_ear_morphology0.69311160
110MP0005636_abnormal_mineral_homeostasis0.68623023
111MP0001545_abnormal_hematopoietic_system0.68272016
112MP0005397_hematopoietic_system_phenotyp0.68272016
113MP0002233_abnormal_nose_morphology0.68032367
114MP0002111_abnormal_tail_morphology0.67958752
115MP0008872_abnormal_physiological_respon0.67940297
116MP0005319_abnormal_enzyme/_coenzyme0.64921064
117MP0005621_abnormal_cell_physiology0.63223467
118MP0000049_abnormal_middle_ear0.62639177
119MP0003698_abnormal_male_reproductive0.62466783
120MP0001756_abnormal_urination0.62320631
121MP0005408_hypopigmentation0.61296123
122MP0005376_homeostasis/metabolism_phenot0.60515108
123MP0005410_abnormal_fertilization0.59987941
124MP0003137_abnormal_impulse_conducting0.58082968
125MP0005083_abnormal_biliary_tract0.57615578
126MP0008775_abnormal_heart_ventricle0.56660410
127MP0008873_increased_physiological_sensi0.55408857
128MP0002161_abnormal_fertility/fecundity0.55267110
129MP0003699_abnormal_female_reproductive0.54464116
130MP0004087_abnormal_muscle_fiber0.54246827
131MP0002722_abnormal_immune_system0.51924791
132MP0004019_abnormal_vitamin_homeostasis0.51420185
133MP0002972_abnormal_cardiac_muscle0.49595377

Predicted human phenotypes

RankGene SetZ-score
1Birth length less than 3rd percentile (HP:0003561)5.37096040
2Breast hypoplasia (HP:0003187)4.70605636
3Cerebral hypomyelination (HP:0006808)4.15538776
4Carpal bone hypoplasia (HP:0001498)4.01565793
5Acute necrotizing encephalopathy (HP:0006965)3.68272719
6Rough bone trabeculation (HP:0100670)3.61679282
7Abnormality of glycolysis (HP:0004366)3.54042313
8Increased serum pyruvate (HP:0003542)3.54042313
9Hepatic necrosis (HP:0002605)3.51180789
10Increased CSF lactate (HP:0002490)3.45295959
11Hepatocellular necrosis (HP:0001404)3.45090630
12Abnormality of cells of the erythroid lineage (HP:0012130)3.43406419
13Mitochondrial inheritance (HP:0001427)3.40777974
14Abnormal mitochondria in muscle tissue (HP:0008316)3.39981642
15Abnormality of alanine metabolism (HP:0010916)3.36864908
16Hyperalaninemia (HP:0003348)3.36864908
17Abnormality of pyruvate family amino acid metabolism (HP:0010915)3.36864908
18Oral leukoplakia (HP:0002745)3.33814000
19Abnormal number of erythroid precursors (HP:0012131)3.27672608
20Multiple enchondromatosis (HP:0005701)3.27504603
21Increased serum lactate (HP:0002151)3.26524507
22Decreased activity of mitochondrial respiratory chain (HP:0008972)3.19074585
23Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.19074585
24Type I transferrin isoform profile (HP:0003642)3.16849676
25Acute encephalopathy (HP:0006846)3.15516565
26Secondary amenorrhea (HP:0000869)3.05019323
27Hyperglycinemia (HP:0002154)2.99341514
28Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.97454043
29Increased hepatocellular lipid droplets (HP:0006565)2.93065616
30Premature ovarian failure (HP:0008209)2.92878730
31Patellar aplasia (HP:0006443)2.90763472
32Progressive muscle weakness (HP:0003323)2.89882082
33Renal Fanconi syndrome (HP:0001994)2.89732941
34Reticulocytopenia (HP:0001896)2.87653383
35CNS demyelination (HP:0007305)2.85213550
36Aplasia/Hypoplasia of the patella (HP:0006498)2.83728415
37Lipid accumulation in hepatocytes (HP:0006561)2.81098258
383-Methylglutaconic aciduria (HP:0003535)2.80987041
39Progressive macrocephaly (HP:0004481)2.80538728
40Hyperglycinuria (HP:0003108)2.80223746
41Lactic acidosis (HP:0003128)2.80124429
42Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.79447457
43Reduced antithrombin III activity (HP:0001976)2.76280056
44Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.75017119
45Abnormal protein N-linked glycosylation (HP:0012347)2.75017119
46Abnormal protein glycosylation (HP:0012346)2.75017119
47Abnormal glycosylation (HP:0012345)2.75017119
48Cerebral edema (HP:0002181)2.72385400
49Macrocytic anemia (HP:0001972)2.70941344
50Abnormal trabecular bone morphology (HP:0100671)2.66101183
51Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.64344808
52Nausea (HP:0002018)2.60400453
53Degeneration of anterior horn cells (HP:0002398)2.58888952
54Abnormality of the anterior horn cell (HP:0006802)2.58888952
55Ureteral duplication (HP:0000073)2.54084335
56Exercise intolerance (HP:0003546)2.51821539
57Microretrognathia (HP:0000308)2.49933087
58Abnormality of serum amino acid levels (HP:0003112)2.48622040
59CNS hypomyelination (HP:0003429)2.46091484
60Absent radius (HP:0003974)2.43536744
61Areflexia of lower limbs (HP:0002522)2.42869181
62Megaloblastic anemia (HP:0001889)2.42617174
63Respiratory failure (HP:0002878)2.42376290
64Lethargy (HP:0001254)2.42154605
65Impulsivity (HP:0100710)2.41279051
66Respiratory difficulties (HP:0002880)2.36830432
67Abnormality of the umbilical cord (HP:0010881)2.36809584
68Leukodystrophy (HP:0002415)2.36168791
69Aplasia/Hypoplasia involving the musculature (HP:0001460)2.35043157
70Abnormality of glycine metabolism (HP:0010895)2.34999973
71Abnormality of serine family amino acid metabolism (HP:0010894)2.34999973
72Muscle fiber splitting (HP:0003555)2.30034158
73Colon cancer (HP:0003003)2.28806185
74Rhabdomyolysis (HP:0003201)2.28112087
75Abnormality of the labia minora (HP:0012880)2.27630496
76Sparse eyelashes (HP:0000653)2.25028091
77Trismus (HP:0000211)2.24995488
78Aplasia involving forearm bones (HP:0009822)2.24620640
79Absent forearm bone (HP:0003953)2.24620640
80Abnormality of methionine metabolism (HP:0010901)2.24530626
81Microvesicular hepatic steatosis (HP:0001414)2.22823846
82Pancytopenia (HP:0001876)2.22547625
83Amniotic constriction ring (HP:0009775)2.21756299
84Abnormality of placental membranes (HP:0011409)2.21756299
85Increased intramyocellular lipid droplets (HP:0012240)2.20504251
86Irregular epiphyses (HP:0010582)2.20142252
87Dicarboxylic aciduria (HP:0003215)2.19668198
88Abnormality of dicarboxylic acid metabolism (HP:0010995)2.19668198
89Abnormal spermatogenesis (HP:0008669)2.16924225
90Unsteady gait (HP:0002317)2.16272998
91Optic disc pallor (HP:0000543)2.15915574
92Abnormality of the preputium (HP:0100587)2.15548951
93Aplastic anemia (HP:0001915)2.15497307
94Hypoplasia of the capital femoral epiphysis (HP:0003090)2.15022900
95Emotional lability (HP:0000712)2.13780642
96Meckel diverticulum (HP:0002245)2.12634365
97Aplasia/Hypoplasia of the uvula (HP:0010293)2.11805338
98Chromsome breakage (HP:0040012)2.11797061
99Methylmalonic aciduria (HP:0012120)2.10288663
100Chromosomal breakage induced by crosslinking agents (HP:0003221)2.09911259
101Methylmalonic acidemia (HP:0002912)2.09212602
102Death in infancy (HP:0001522)2.09082084
103Exertional dyspnea (HP:0002875)2.08750765
104Cellular immunodeficiency (HP:0005374)2.07343031
105Increased muscle lipid content (HP:0009058)2.05961542
106Premature graying of hair (HP:0002216)2.05451684
107Absent thumb (HP:0009777)2.01792984
108Postnatal microcephaly (HP:0005484)2.01392071
109Pallor (HP:0000980)1.99529959
110Bone marrow hypocellularity (HP:0005528)1.98467720
111Horseshoe kidney (HP:0000085)1.97440743
112Abnormality of the ileum (HP:0001549)1.97046165
113Abnormality of chromosome stability (HP:0003220)1.96513180
114Palpitations (HP:0001962)1.96157444
115Abnormal lung lobation (HP:0002101)1.95597708
116Testicular atrophy (HP:0000029)1.95481920
117Delusions (HP:0000746)1.94034917
118Gout (HP:0001997)1.91447646
119Selective tooth agenesis (HP:0001592)1.90391869
120Patent foramen ovale (HP:0001655)1.89906911
121Personality changes (HP:0000751)1.89583518
122Hypoplastic pelvis (HP:0008839)1.88557765
123X-linked dominant inheritance (HP:0001423)1.86496076
124Abnormal gallbladder physiology (HP:0012438)1.86353283
125Cholecystitis (HP:0001082)1.86353283
126Ependymoma (HP:0002888)1.85045456
127Abnormality of aspartate family amino acid metabolism (HP:0010899)1.84578605
128Small intestinal stenosis (HP:0012848)1.83529246
129Duodenal stenosis (HP:0100867)1.83529246
130Facial cleft (HP:0002006)1.78512915
131Aplasia/Hypoplasia of the sacrum (HP:0008517)1.77047116
132Generalized aminoaciduria (HP:0002909)1.73519139
133Ragged-red muscle fibers (HP:0003200)1.71522377
134Abnormalities of placenta or umbilical cord (HP:0001194)1.68586062
135Posterior subcapsular cataract (HP:0007787)1.66314517
136Type 2 muscle fiber atrophy (HP:0003554)1.66108220

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB15.78338631
2WEE14.37688790
3EIF2AK13.87154564
4VRK23.54058449
5PLK43.16206687
6STK163.13935748
7NME22.91229758
8TSSK62.65607359
9SRPK12.58833305
10NEK12.48216780
11EIF2AK32.38585951
12EPHA22.18095714
13BRSK22.16311978
14TTK2.09610932
15TRIM282.08736197
16ZAK2.06957921
17CDC72.02910214
18NUAK11.95167485
19NME11.93648180
20ACVR1B1.91804188
21NEK21.89704253
22AKT31.80987578
23VRK11.78077517
24PLK11.77522911
25BCKDK1.66344680
26TESK21.63103268
27PDK31.61575050
28PDK41.61575050
29PLK31.55429371
30STK38L1.53274714
31BRAF1.47370713
32CCNB11.46707928
33DYRK31.44888388
34PIM21.44477242
35BRSK11.42394837
36MAP4K21.41459179
37AURKB1.31855270
38ARAF1.31119278
39MAP3K121.27580340
40AURKA1.25283804
41TLK11.23429225
42IRAK31.19300827
43OBSCN1.14782893
44PDK21.13062125
45PLK21.12655506
46PNCK1.11185836
47RPS6KA41.08931371
48CHEK21.03881086
49CSNK1G11.03721864
50DAPK11.03518212
51PINK11.03356367
52KDR1.02218753
53MKNK10.96954443
54MAP3K80.94592624
55STK240.94516206
56CDK70.93231149
57CSNK1G20.89702742
58PBK0.89677316
59CSNK1A1L0.89485729
60ATR0.89196517
61ABL20.87528516
62MKNK20.83426199
63EIF2AK20.83383669
64MAP3K110.78276456
65STK40.77792147
66RPS6KB20.77476894
67CDK40.76345652
68MAP2K70.75602143
69CHEK10.70617192
70ERBB30.70433232
71CSNK2A10.70286516
72DYRK20.69099190
73TAF10.68657073
74BMPR1B0.68062744
75WNK30.67572124
76PAK10.67274685
77CSNK2A20.64155731
78PRKCI0.62901713
79PAK40.62464839
80TESK10.60607087
81LATS20.58577943
82PIM10.58567566
83OXSR10.57002576
84CDK80.56822551
85MAP3K30.55736461
86STK30.55429619
87LIMK10.53992855
88RPS6KA50.51152880
89MST40.49954072
90MYLK0.47660154
91STK390.47382455
92CDK20.44208677
93WNK40.43039106
94MAP3K50.41160330
95MINK10.40286825
96ALK0.39952355
97RAF10.39489248
98ATM0.39392511
99MAPKAPK30.35668136
100MAPKAPK50.34691977
101CLK10.34018754
102PHKG10.33913388
103PHKG20.33913388
104ILK0.32550471
105CDK10.32310621
106CDK140.31482009
107PASK0.29990395
108TAOK20.29981816
109NEK90.28582410
110STK100.28546955
111MAP2K30.26442405
112MUSK0.24648690
113CDK180.24174680
114MELK0.24050012
115GRK10.24015825
116CSNK1A10.23548523
117PRKDC0.23436050
118CSNK1E0.23121794
119AKT20.22833717
120SCYL20.21391802
121MARK30.19212434
122DAPK30.16895410
123LRRK20.16069143
124CSNK1G30.15215531
125ERBB40.15067817
126IRAK40.13628583
127BCR0.13454590
128TGFBR10.12566666
129TYK20.09345115

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030504.85612678
2RNA polymerase_Homo sapiens_hsa030204.05526731
3Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.71144499
4DNA replication_Homo sapiens_hsa030303.58308480
5Ribosome_Homo sapiens_hsa030103.36181918
6Mismatch repair_Homo sapiens_hsa034302.99058153
7RNA transport_Homo sapiens_hsa030132.78114133
8Vitamin B6 metabolism_Homo sapiens_hsa007502.76002663
9Pyrimidine metabolism_Homo sapiens_hsa002402.68762948
10Spliceosome_Homo sapiens_hsa030402.53209354
11Nucleotide excision repair_Homo sapiens_hsa034202.31123716
12Homologous recombination_Homo sapiens_hsa034402.30326759
13Oxidative phosphorylation_Homo sapiens_hsa001902.21563952
14Base excision repair_Homo sapiens_hsa034102.16295733
15Parkinsons disease_Homo sapiens_hsa050122.06026166
16Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.98248408
17Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.96004446
18Cell cycle_Homo sapiens_hsa041101.90996773
19One carbon pool by folate_Homo sapiens_hsa006701.86346779
20Basal transcription factors_Homo sapiens_hsa030221.82849584
21Huntingtons disease_Homo sapiens_hsa050161.74973968
222-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.64459039
23Folate biosynthesis_Homo sapiens_hsa007901.61714484
24Purine metabolism_Homo sapiens_hsa002301.54665604
25RNA degradation_Homo sapiens_hsa030181.51224611
26Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.49327399
27Fanconi anemia pathway_Homo sapiens_hsa034601.49232725
28Cysteine and methionine metabolism_Homo sapiens_hsa002701.44218774
29Pentose phosphate pathway_Homo sapiens_hsa000301.34299557
30Carbon metabolism_Homo sapiens_hsa012001.32895197
31Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.31654750
32Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.30418472
33Biosynthesis of amino acids_Homo sapiens_hsa012301.28677023
34Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.24256278
35Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.22098580
36Protein export_Homo sapiens_hsa030601.21612964
37Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.18474026
38Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.18406867
39Non-homologous end-joining_Homo sapiens_hsa034501.14365852
40p53 signaling pathway_Homo sapiens_hsa041151.12494632
41Drug metabolism - other enzymes_Homo sapiens_hsa009831.12364012
42Alzheimers disease_Homo sapiens_hsa050101.12051946
43Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.06397863
44Regulation of autophagy_Homo sapiens_hsa041401.04611569
45Epstein-Barr virus infection_Homo sapiens_hsa051691.03851505
46Steroid biosynthesis_Homo sapiens_hsa001000.97875324
47Sulfur metabolism_Homo sapiens_hsa009200.96396068
48Fructose and mannose metabolism_Homo sapiens_hsa000510.90990737
49Glutathione metabolism_Homo sapiens_hsa004800.88087987
50mRNA surveillance pathway_Homo sapiens_hsa030150.88070866
51Sulfur relay system_Homo sapiens_hsa041220.81841550
52Cardiac muscle contraction_Homo sapiens_hsa042600.78416187
53Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.78156780
54Pyruvate metabolism_Homo sapiens_hsa006200.74327651
55Propanoate metabolism_Homo sapiens_hsa006400.72258745
56Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.72066306
57Metabolic pathways_Homo sapiens_hsa011000.71918441
58Selenocompound metabolism_Homo sapiens_hsa004500.70222515
59Oocyte meiosis_Homo sapiens_hsa041140.66337185
60Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.65297805
61Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.65268716
62N-Glycan biosynthesis_Homo sapiens_hsa005100.64567299
63Cyanoamino acid metabolism_Homo sapiens_hsa004600.62301442
64Systemic lupus erythematosus_Homo sapiens_hsa053220.62051986
65Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.61847951
66Arginine and proline metabolism_Homo sapiens_hsa003300.60709760
67Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.51701501
68Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.51474380
69Galactose metabolism_Homo sapiens_hsa000520.49191521
70Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.45811271
71Vitamin digestion and absorption_Homo sapiens_hsa049770.43753238
72Vibrio cholerae infection_Homo sapiens_hsa051100.39736529
73beta-Alanine metabolism_Homo sapiens_hsa004100.36846396
74Antigen processing and presentation_Homo sapiens_hsa046120.36132095
75Glycerophospholipid metabolism_Homo sapiens_hsa005640.35928234
76Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.35003433
77Legionellosis_Homo sapiens_hsa051340.34445720
78Herpes simplex infection_Homo sapiens_hsa051680.32631022
79Viral carcinogenesis_Homo sapiens_hsa052030.32258579
80Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.32252564
81Fatty acid elongation_Homo sapiens_hsa000620.31578178
82Phenylalanine metabolism_Homo sapiens_hsa003600.30129783
83Tryptophan metabolism_Homo sapiens_hsa003800.29328368
84Arachidonic acid metabolism_Homo sapiens_hsa005900.28500065
85Peroxisome_Homo sapiens_hsa041460.28108944
86Fatty acid degradation_Homo sapiens_hsa000710.27239346
87Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.22376602
88SNARE interactions in vesicular transport_Homo sapiens_hsa041300.22227114
89Arginine biosynthesis_Homo sapiens_hsa002200.22054399
90Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.17755562
91Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.17223463
92Fatty acid metabolism_Homo sapiens_hsa012120.15721463
93Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.14526296
94Linoleic acid metabolism_Homo sapiens_hsa005910.14386346
95Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.13796763
96Renin-angiotensin system_Homo sapiens_hsa046140.13471331
97Tyrosine metabolism_Homo sapiens_hsa003500.13413969
98HIF-1 signaling pathway_Homo sapiens_hsa040660.11636376
99HTLV-I infection_Homo sapiens_hsa051660.11622382
100Butanoate metabolism_Homo sapiens_hsa006500.08227642
101Chemical carcinogenesis_Homo sapiens_hsa052040.07775157
102Pentose and glucuronate interconversions_Homo sapiens_hsa000400.07267001
103Collecting duct acid secretion_Homo sapiens_hsa049660.07060381
104Nitrogen metabolism_Homo sapiens_hsa009100.06671851
105Caffeine metabolism_Homo sapiens_hsa002320.05393127
106Primary bile acid biosynthesis_Homo sapiens_hsa001200.04813970
107TGF-beta signaling pathway_Homo sapiens_hsa043500.04738851
108Shigellosis_Homo sapiens_hsa051310.04118673
109Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.03834875
110Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.03526096
111Phototransduction_Homo sapiens_hsa047440.02509399
112Graft-versus-host disease_Homo sapiens_hsa053320.02047978
113Apoptosis_Homo sapiens_hsa042100.01238474
114Fat digestion and absorption_Homo sapiens_hsa049750.00677496
115Circadian rhythm_Homo sapiens_hsa04710-0.0171584
116Thyroid cancer_Homo sapiens_hsa05216-0.0155634
117Retinol metabolism_Homo sapiens_hsa00830-0.0047495
118alpha-Linolenic acid metabolism_Homo sapiens_hsa00592-0.0031588

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