TIMM13

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a member of the evolutionarily conserved TIMM (translocase of inner mitochondrial membrane) family of proteins that function as chaperones in the import of proteins from the cytoplasm into the mitochondrial inner membrane. Proteins of this family play a role in collecting substrate proteins from the translocase of the outer mitochondrial membrane (TOM) complex and delivering them to either the sorting and assembly machinery in the outer mitochondrial membrane (SAM) complex or the TIMM22 complex in the inner mitochondrial membrane. The encoded protein and the translocase of mitochondrial inner membrane 8a protein form a 70 kDa complex in the intermembrane space. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1ribosomal large subunit biogenesis (GO:0042273)7.21897006
2viral transcription (GO:0019083)7.02154418
3mitochondrial ATP synthesis coupled proton transport (GO:0042776)6.81589053
4translational termination (GO:0006415)6.73162766
5ATP synthesis coupled proton transport (GO:0015986)6.47264353
6energy coupled proton transport, down electrochemical gradient (GO:0015985)6.47264353
7ribosomal small subunit assembly (GO:0000028)6.32012911
8ribosomal small subunit biogenesis (GO:0042274)6.23084468
9SRP-dependent cotranslational protein targeting to membrane (GO:0006614)6.00784576
10cotranslational protein targeting to membrane (GO:0006613)5.96048872
11protein targeting to ER (GO:0045047)5.92301185
12protein localization to endoplasmic reticulum (GO:0070972)5.90734961
13mitochondrial electron transport, NADH to ubiquinone (GO:0006120)5.81116439
14translational elongation (GO:0006414)5.79958688
15heterochromatin organization (GO:0070828)5.70595998
16establishment of protein localization to endoplasmic reticulum (GO:0072599)5.60911551
17viral life cycle (GO:0019058)5.42095529
18proteasome assembly (GO:0043248)5.39795123
19cellular protein complex disassembly (GO:0043624)5.35507521
20respiratory electron transport chain (GO:0022904)5.31239183
21translational initiation (GO:0006413)5.30422441
22electron transport chain (GO:0022900)5.18455828
23maturation of 5.8S rRNA (GO:0000460)5.07395104
24maturation of SSU-rRNA (GO:0030490)5.05331592
25nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)4.88917533
26DNA deamination (GO:0045006)4.81500313
27translation (GO:0006412)4.68055089
28protein complex disassembly (GO:0043241)4.62516460
29negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)4.52960731
30macromolecular complex disassembly (GO:0032984)4.40914282
31establishment of protein localization to mitochondrial membrane (GO:0090151)4.37947500
32protein neddylation (GO:0045116)4.36123309
33regulation of cellular amino acid metabolic process (GO:0006521)4.26796267
34cellular component biogenesis (GO:0044085)4.25502917
35* protein targeting to mitochondrion (GO:0006626)4.20073237
36termination of RNA polymerase III transcription (GO:0006386)4.19378836
37transcription elongation from RNA polymerase III promoter (GO:0006385)4.19378836
38ribonucleoprotein complex biogenesis (GO:0022613)4.17027083
39pyrimidine deoxyribonucleotide catabolic process (GO:0009223)4.16406391
40negative regulation of ligase activity (GO:0051352)4.15940449
41negative regulation of ubiquitin-protein transferase activity (GO:0051444)4.15940449
42* establishment of protein localization to mitochondrion (GO:0072655)4.13397009
43protein targeting to membrane (GO:0006612)4.13049735
44positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)4.11015138
45regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.97128899
46mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.95277924
47mitochondrial respiratory chain complex I assembly (GO:0032981)3.95277924
48NADH dehydrogenase complex assembly (GO:0010257)3.95277924
49GTP biosynthetic process (GO:0006183)3.91896116
50protein complex biogenesis (GO:0070271)3.91418201
51peptidyl-histidine modification (GO:0018202)3.90588812
52anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.89103689
53intracellular protein transmembrane import (GO:0044743)3.88945429
54regulation of mitochondrial translation (GO:0070129)3.88428267
55* chaperone-mediated protein transport (GO:0072321)3.87666526
56spliceosomal snRNP assembly (GO:0000387)3.84025676
57DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.83386979
58* protein localization to mitochondrion (GO:0070585)3.81112600
59respiratory chain complex IV assembly (GO:0008535)3.74850126
60intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.72814386
61signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.72814386
62positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.70858201
63signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.70336752
64signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.70336752
65signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.70336752
66antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:3.69080874
67mitochondrial respiratory chain complex assembly (GO:0033108)3.67346310
68signal transduction involved in DNA damage checkpoint (GO:0072422)3.64751681
69signal transduction involved in DNA integrity checkpoint (GO:0072401)3.64751681
70chromatin remodeling at centromere (GO:0031055)3.61536634
71signal transduction involved in cell cycle checkpoint (GO:0072395)3.61403036
72cytochrome complex assembly (GO:0017004)3.59618307
73nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.57952715
74positive regulation of ligase activity (GO:0051351)3.57136641
75UTP biosynthetic process (GO:0006228)3.56056585
76exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.55386885
77pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)3.51390874
78rRNA processing (GO:0006364)3.50491298
79guanosine-containing compound biosynthetic process (GO:1901070)3.48638395
80deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.48633450
81pyrimidine nucleoside triphosphate metabolic process (GO:0009147)3.48514430
82CENP-A containing nucleosome assembly (GO:0034080)3.48165895
837-methylguanosine mRNA capping (GO:0006370)3.41333574
84DNA strand elongation involved in DNA replication (GO:0006271)3.41178079
85antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)3.40634386
86ribosome biogenesis (GO:0042254)3.40390078
87CTP metabolic process (GO:0046036)3.38161434
88CTP biosynthetic process (GO:0006241)3.38161434
89nuclear-transcribed mRNA catabolic process (GO:0000956)3.37620603
90purine ribonucleoside triphosphate biosynthetic process (GO:0009206)3.37163720
91negative regulation of epidermal cell differentiation (GO:0045605)3.36928850
92pyrimidine nucleotide catabolic process (GO:0006244)3.36867699
93protein import into peroxisome matrix (GO:0016558)3.35141141
94inner mitochondrial membrane organization (GO:0007007)3.35081328
95purine nucleoside triphosphate biosynthetic process (GO:0009145)3.34349387
96rRNA metabolic process (GO:0016072)3.33492930
97pyrimidine deoxyribonucleotide metabolic process (GO:0009219)3.31973103
987-methylguanosine RNA capping (GO:0009452)3.31485616
99RNA capping (GO:0036260)3.31485616
100L-serine metabolic process (GO:0006563)3.31324063
101telomere maintenance via semi-conservative replication (GO:0032201)3.31235580
102base-excision repair, AP site formation (GO:0006285)3.29785258
103tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.29301778
104RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.29301778
105L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.28938112
106pyrimidine ribonucleoside triphosphate biosynthetic process (GO:0009209)3.27642882
107cullin deneddylation (GO:0010388)3.27264892
108DNA strand elongation (GO:0022616)3.26578122
109regulation of ubiquitin-protein transferase activity (GO:0051438)3.25635452
110rRNA modification (GO:0000154)3.25515514
111regulation of cellular amine metabolic process (GO:0033238)3.24551132
112pseudouridine synthesis (GO:0001522)3.23180603
113ATP biosynthetic process (GO:0006754)3.21525892
114ribonucleoside triphosphate biosynthetic process (GO:0009201)3.21365329
115oxidative phosphorylation (GO:0006119)3.21035679
116establishment of integrated proviral latency (GO:0075713)3.20756433
117DNA damage response, detection of DNA damage (GO:0042769)3.18769443
118purine nucleobase biosynthetic process (GO:0009113)3.18456459
119DNA replication checkpoint (GO:0000076)3.18276645
120protein maturation by protein folding (GO:0022417)3.18255514
121regulation of ligase activity (GO:0051340)3.16118220
122formation of translation preinitiation complex (GO:0001731)3.15422565
123hydrogen ion transmembrane transport (GO:1902600)3.15259689
124spliceosomal complex assembly (GO:0000245)3.15197417
125mRNA catabolic process (GO:0006402)3.15022949
126UTP metabolic process (GO:0046051)3.13386992
127transcription-coupled nucleotide-excision repair (GO:0006283)3.13271609

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.52551572
2SOX9_22984422_ChIP-ChIP_TESTIS_Rat4.50912437
3GABP_17652178_ChIP-ChIP_JURKAT_Human4.32274930
4MYC_18555785_ChIP-Seq_MESCs_Mouse4.30903027
5JARID1A_20064375_ChIP-Seq_MESCs_Mouse4.19002792
6NOTCH1_17114293_ChIP-ChIP_T-ALL_Human4.09422839
7EST1_17652178_ChIP-ChIP_JURKAT_Human4.05513235
8* ETS1_20019798_ChIP-Seq_JURKAT_Human3.92377421
9EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.86099090
10* CREB1_15753290_ChIP-ChIP_HEK293T_Human3.52788234
11HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.32069955
12* MYC_18358816_ChIP-ChIP_MESCs_Mouse3.26971587
13E2F7_22180533_ChIP-Seq_HELA_Human3.06902044
14ELF1_17652178_ChIP-ChIP_JURKAT_Human2.98395106
15HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.95031647
16MYC_19079543_ChIP-ChIP_MESCs_Mouse2.88257164
17CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.87420118
18XRN2_22483619_ChIP-Seq_HELA_Human2.81282065
19* MYC_19030024_ChIP-ChIP_MESCs_Mouse2.80902365
20E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.79700939
21CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.79002578
22* THAP11_20581084_ChIP-Seq_MESCs_Mouse2.54618729
23DCP1A_22483619_ChIP-Seq_HELA_Human2.44604072
24* E2F1_18555785_ChIP-Seq_MESCs_Mouse2.37447232
25VDR_23849224_ChIP-Seq_CD4+_Human2.26800920
26TTF2_22483619_ChIP-Seq_HELA_Human2.20043085
27YY1_21170310_ChIP-Seq_MESCs_Mouse2.18034115
28PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.11039903
29CEBPB_24764292_ChIP-Seq_MC3T3_Mouse2.03735012
30FOXP3_21729870_ChIP-Seq_TREG_Human2.01623859
31SRF_21415370_ChIP-Seq_HL-1_Mouse1.98954067
32NELFA_20434984_ChIP-Seq_ESCs_Mouse1.95685643
33FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.94521047
34* GABP_19822575_ChIP-Seq_HepG2_Human1.92684992
35ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.91822639
36E2F4_17652178_ChIP-ChIP_JURKAT_Human1.61910024
37BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.61180275
38POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.60549192
39KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.60380722
40NANOG_18555785_ChIP-Seq_MESCs_Mouse1.53274904
41MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.49828959
42TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.48401929
43FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.47554607
44* CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.44519329
45PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.41492616
46FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.39111530
47ELK1_19687146_ChIP-ChIP_HELA_Human1.39013749
48CTCF_18555785_ChIP-Seq_MESCs_Mouse1.35666271
49POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.35236761
50E2F1_21310950_ChIP-Seq_MCF-7_Human1.33406619
51ELK1_22589737_ChIP-Seq_MCF10A_Human1.33111732
52TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.32147618
53* YY1_22570637_ChIP-Seq_MALME-3M_Human1.30674537
54* ZFX_18555785_ChIP-Seq_MESCs_Mouse1.30592686
55MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.29740659
56* SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.29379970
57SRY_22984422_ChIP-ChIP_TESTIS_Rat1.29126188
58MYCN_18555785_ChIP-Seq_MESCs_Mouse1.28972391
59YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.28780095
60CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.26222093
61PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.25392394
62HOXB4_20404135_ChIP-ChIP_EML_Mouse1.22717924
63ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.19490192
64KDM5A_27292631_Chip-Seq_BREAST_Human1.15002758
65CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human1.09708957
66ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.07548205
67CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.06684006
68MYC_18940864_ChIP-ChIP_HL60_Human1.06207137
69* EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.04975008
70CIITA_25753668_ChIP-Seq_RAJI_Human1.04564752
71OCT4_18692474_ChIP-Seq_MEFs_Mouse1.04501294
72SOX2_18555785_ChIP-Seq_MESCs_Mouse1.03244709
73SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.02721496
74POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.02039728
75DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.01806681
76* FOXP1_21924763_ChIP-Seq_HESCs_Human1.01742255
77HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.00190257
78STAT3_1855785_ChIP-Seq_MESCs_Mouse0.99979540
79ERG_20887958_ChIP-Seq_HPC-7_Mouse0.99973367
80AR_21909140_ChIP-Seq_LNCAP_Human0.97432928
81HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.97284630
82TET1_21451524_ChIP-Seq_MESCs_Mouse0.96618941
83FOXM1_23109430_ChIP-Seq_U2OS_Human0.94164101
84* SOX2_18692474_ChIP-Seq_MEFs_Mouse0.93448466
85FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.91926153
86SOX17_20123909_ChIP-Seq_XEN_Mouse0.91828277
87HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.91524525
88* KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.91493639
89* SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.90251214
90KLF4_18555785_ChIP-Seq_MESCs_Mouse0.87678018
91PADI4_21655091_ChIP-ChIP_MCF-7_Human0.87394661
92* TFEB_21752829_ChIP-Seq_HELA_Human0.87023870
93* RBPJ_21746931_ChIP-Seq_IB4-LCL_Human0.86882335
94SOX2_16153702_ChIP-ChIP_HESCs_Human0.85381483
95DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.84762907
96MYCN_21190229_ChIP-Seq_SHEP-21N_Human0.83479795
97* STAT1_20625510_ChIP-Seq_HELA_Human0.80931461
98ZNF263_19887448_ChIP-Seq_K562_Human0.80518208
99E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.80335042
100TBX5_21415370_ChIP-Seq_HL-1_Mouse0.79900163
101GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.79405095
102NANOG_16153702_ChIP-ChIP_HESCs_Human0.79402182
103SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.79136348
104CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.79134042
105TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.76737293
106SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.75831962
107NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.75075514
108ESR1_15608294_ChIP-ChIP_MCF-7_Human0.74942723
109TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.74486917
110CTCF_26484167_Chip-Seq_Bcells_Mouse0.73407898

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0009379_abnormal_foot_pigmentation5.24118236
2MP0003693_abnormal_embryo_hatching4.32139923
3MP0003806_abnormal_nucleotide_metabolis3.89580121
4MP0008932_abnormal_embryonic_tissue3.20733694
5MP0004957_abnormal_blastocyst_morpholog3.10184830
6MP0003718_maternal_effect2.79788159
7MP0003186_abnormal_redox_activity2.56067142
8MP0001529_abnormal_vocalization2.55446844
9MP0003315_abnormal_perineum_morphology2.42337779
10MP0003011_delayed_dark_adaptation2.36367199
11MP0006036_abnormal_mitochondrial_physio2.32286621
12MP0003111_abnormal_nucleus_morphology2.22180270
13MP0003077_abnormal_cell_cycle2.17511069
14MP0003136_yellow_coat_color2.10605586
15MP0005409_darkened_coat_color2.09365204
16MP0010030_abnormal_orbit_morphology2.00801440
17MP0001905_abnormal_dopamine_level1.97668849
18MP0001727_abnormal_embryo_implantation1.93085486
19MP0001730_embryonic_growth_arrest1.78660237
20MP0001293_anophthalmia1.76593011
21MP0000750_abnormal_muscle_regeneration1.62200187
22MP0006276_abnormal_autonomic_nervous1.55145442
23MP0005451_abnormal_body_composition1.53819801
24MP0006035_abnormal_mitochondrial_morpho1.51102002
25MP0001919_abnormal_reproductive_system1.44736692
26MP0002751_abnormal_autonomic_nervous1.44721048
27MP0002638_abnormal_pupillary_reflex1.44669204
28MP0008260_abnormal_autophagy1.44408144
29MP0001986_abnormal_taste_sensitivity1.43820240
30MP0002736_abnormal_nociception_after1.43656762
31MP0004381_abnormal_hair_follicle1.38988487
32MP0002653_abnormal_ependyma_morphology1.38790665
33MP0010094_abnormal_chromosome_stability1.37342447
34MP0004142_abnormal_muscle_tone1.36357600
35MP0003646_muscle_fatigue1.35981140
36MP0004133_heterotaxia1.35530460
37MP0009840_abnormal_foam_cell1.34619463
38MP0005499_abnormal_olfactory_system1.33801803
39MP0005394_taste/olfaction_phenotype1.33801803
40MP0003941_abnormal_skin_development1.32613201
41MP0002132_abnormal_respiratory_system1.30530740
42MP0003786_premature_aging1.29926716
43MP0000049_abnormal_middle_ear1.28911989
44MP0002102_abnormal_ear_morphology1.23942210
45MP0003567_abnormal_fetal_cardiomyocyte1.22934923
46MP0003938_abnormal_ear_development1.22856470
47MP0006292_abnormal_olfactory_placode1.19857961
48MP0005670_abnormal_white_adipose1.19831708
49MP0001764_abnormal_homeostasis1.19189822
50MP0003123_paternal_imprinting1.19137161
51MP0002733_abnormal_thermal_nociception1.17828713
52MP0005332_abnormal_amino_acid1.17768147
53MP0009697_abnormal_copulation1.17383097
54MP0008877_abnormal_DNA_methylation1.15908350
55MP0008058_abnormal_DNA_repair1.15174483
56MP0005408_hypopigmentation1.14761233
57MP0003880_abnormal_central_pattern1.14263756
58MP0005389_reproductive_system_phenotype1.14159651
59MP0002234_abnormal_pharynx_morphology1.11702728
60MP0008995_early_reproductive_senescence1.11124925
61MP0000762_abnormal_tongue_morphology1.10371937
62MP0001188_hyperpigmentation1.09377845
63MP0001853_heart_inflammation1.07971330
64MP0002210_abnormal_sex_determination1.07557314
65MP0001970_abnormal_pain_threshold1.06555656
66MP0002163_abnormal_gland_morphology1.04164182
67MP0006072_abnormal_retinal_apoptosis1.03758178
68MP0000678_abnormal_parathyroid_gland1.02990146
69MP0005636_abnormal_mineral_homeostasis1.01814894
70MP0001968_abnormal_touch/_nociception1.01210984
71MP0003656_abnormal_erythrocyte_physiolo1.01196587
72MP0002139_abnormal_hepatobiliary_system0.98373879
73MP0005379_endocrine/exocrine_gland_phen0.97134025
74MP0001697_abnormal_embryo_size0.97004150
75MP0002938_white_spotting0.96547082
76MP0008057_abnormal_DNA_replication0.95506752
77MP0005083_abnormal_biliary_tract0.95414564
78MP0002160_abnormal_reproductive_system0.94705792
79MP0004019_abnormal_vitamin_homeostasis0.94314677
80MP0005084_abnormal_gallbladder_morpholo0.92067742
81MP0004145_abnormal_muscle_electrophysio0.91314965
82MP0002085_abnormal_embryonic_tissue0.90673613
83MP0001145_abnormal_male_reproductive0.90012006
84MP0000358_abnormal_cell_content/0.89917265
85MP0004147_increased_porphyrin_level0.89046669
86MP0003937_abnormal_limbs/digits/tail_de0.88563808
87MP0005085_abnormal_gallbladder_physiolo0.87496761
88MP0005266_abnormal_metabolism0.86730147
89MP0008789_abnormal_olfactory_epithelium0.86284188
90MP0002876_abnormal_thyroid_physiology0.85100260
91MP0001542_abnormal_bone_strength0.85069553
92MP0001485_abnormal_pinna_reflex0.84665037
93MP0009333_abnormal_splenocyte_physiolog0.83782233
94MP0000653_abnormal_sex_gland0.82550255
95MP0002837_dystrophic_cardiac_calcinosis0.81556037
96MP0002697_abnormal_eye_size0.81036702
97MP0000372_irregular_coat_pigmentation0.80283872
98MP0005360_urolithiasis0.79313311
99MP0000631_abnormal_neuroendocrine_gland0.79186804
100MP0002735_abnormal_chemical_nociception0.79113683
101MP0009053_abnormal_anal_canal0.78607468
102MP0005380_embryogenesis_phenotype0.77538786
103MP0001672_abnormal_embryogenesis/_devel0.77538786
104MP0002111_abnormal_tail_morphology0.76874881
105MP0001929_abnormal_gametogenesis0.76641826
106MP0000749_muscle_degeneration0.76600647
107MP0003119_abnormal_digestive_system0.75704186
108MP0003121_genomic_imprinting0.75137198
109MP0002249_abnormal_larynx_morphology0.74627537
110MP0002233_abnormal_nose_morphology0.74422237
111MP0000313_abnormal_cell_death0.72480075
112MP0009672_abnormal_birth_weight0.72407952
113MP0002734_abnormal_mechanical_nocicepti0.72110746
114MP0005646_abnormal_pituitary_gland0.71565952
115MP0000490_abnormal_crypts_of0.71253590
116MP0005501_abnormal_skin_physiology0.70628025
117MP0002095_abnormal_skin_pigmentation0.69664342
118MP0005376_homeostasis/metabolism_phenot0.69370906
119MP0002277_abnormal_respiratory_mucosa0.68934427
120MP0002272_abnormal_nervous_system0.68642875
121MP0002084_abnormal_developmental_patter0.66814413
122MP0001881_abnormal_mammary_gland0.65140975
123MP0008875_abnormal_xenobiotic_pharmacok0.63983513
124MP0000858_altered_metastatic_potential0.63971926
125MP0003195_calcinosis0.63219268
126MP0002752_abnormal_somatic_nervous0.63094677
127MP0003221_abnormal_cardiomyocyte_apopto0.63001865
128MP0005330_cardiomyopathy0.62975869
129MP0005381_digestive/alimentary_phenotyp0.62965282
130MP0002822_catalepsy0.62888131
131MP0001286_abnormal_eye_development0.62386699
132MP0001756_abnormal_urination0.62217369
133MP0000350_abnormal_cell_proliferation0.61624194
134MP0008872_abnormal_physiological_respon0.61392780
135MP0003638_abnormal_response/metabolism_0.61258746
136MP0009250_abnormal_appendicular_skeleto0.60966368
137MP0002080_prenatal_lethality0.60905523
138MP0001663_abnormal_digestive_system0.60190243
139MP0002332_abnormal_exercise_endurance0.59995409
140MP0000920_abnormal_myelination0.59770157
141MP0005075_abnormal_melanosome_morpholog0.59640362
142MP0008007_abnormal_cellular_replicative0.59483308

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)6.19934865
2Mitochondrial inheritance (HP:0001427)5.69992607
3Abnormal mitochondria in muscle tissue (HP:0008316)5.54304924
4Acute encephalopathy (HP:0006846)5.30742123
5Hepatocellular necrosis (HP:0001404)5.25567359
6Abnormal activity of mitochondrial respiratory chain (HP:0011922)5.24123493
7Decreased activity of mitochondrial respiratory chain (HP:0008972)5.24123493
8Increased CSF lactate (HP:0002490)5.08905912
9Progressive macrocephaly (HP:0004481)4.89537756
10Hepatic necrosis (HP:0002605)4.78910620
11Abnormality of cells of the erythroid lineage (HP:0012130)4.65414075
12Increased hepatocellular lipid droplets (HP:0006565)4.51310665
13Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)4.42077274
14Reticulocytopenia (HP:0001896)4.20368984
15Abnormal number of erythroid precursors (HP:0012131)4.14332636
16Lipid accumulation in hepatocytes (HP:0006561)4.11127531
17Macrocytic anemia (HP:0001972)4.01438291
18Muscle abnormality related to mitochondrial dysfunction (HP:0003800)3.98003137
19Cerebral edema (HP:0002181)3.93120009
20Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.90239178
21Renal Fanconi syndrome (HP:0001994)3.77916905
22Increased serum lactate (HP:0002151)3.67260727
23Respiratory failure (HP:0002878)3.67087920
243-Methylglutaconic aciduria (HP:0003535)3.61183687
25Increased intramyocellular lipid droplets (HP:0012240)3.51492687
26Brushfield spots (HP:0001088)3.38751291
27Exercise intolerance (HP:0003546)3.35554458
28Lactic acidosis (HP:0003128)3.31172875
29Optic disc pallor (HP:0000543)3.30316086
30Cerebral hypomyelination (HP:0006808)3.25100802
31Leukodystrophy (HP:0002415)3.12029130
32Pallor (HP:0000980)3.06407603
33Increased muscle lipid content (HP:0009058)3.05221122
34Abnormality of glycolysis (HP:0004366)3.05116928
35Increased serum pyruvate (HP:0003542)3.05116928
36Exertional dyspnea (HP:0002875)3.03122903
37Aplasia/Hypoplasia of the sacrum (HP:0008517)2.86888311
38CNS demyelination (HP:0007305)2.84341938
39Secondary amenorrhea (HP:0000869)2.80665488
40Abnormality of fatty-acid metabolism (HP:0004359)2.69991862
41Hyperphosphaturia (HP:0003109)2.68196980
42Congenital nonbullous ichthyosiform erythroderma (HP:0007479)2.66387733
43Premature ovarian failure (HP:0008209)2.63142139
44Respiratory difficulties (HP:0002880)2.62116158
45Amniotic constriction ring (HP:0009775)2.59972304
46Abnormality of placental membranes (HP:0011409)2.59972304
47Lethargy (HP:0001254)2.49034439
48Progressive external ophthalmoplegia (HP:0000590)2.48444204
49Emotional lability (HP:0000712)2.44497308
50Abnormality of renal resorption (HP:0011038)2.43207937
51Reduced antithrombin III activity (HP:0001976)2.40159901
52Methylmalonic aciduria (HP:0012120)2.40018110
53Gonadotropin excess (HP:0000837)2.38537337
54Oral leukoplakia (HP:0002745)2.35910803
55Aplastic anemia (HP:0001915)2.32123940
56Colon cancer (HP:0003003)2.30523142
57Rough bone trabeculation (HP:0100670)2.30162748
58Parakeratosis (HP:0001036)2.29947014
59Poor suck (HP:0002033)2.29756948
60Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.28699866
61Abnormality of alanine metabolism (HP:0010916)2.28699866
62Hyperalaninemia (HP:0003348)2.28699866
63Adenoma sebaceum (HP:0009720)2.27986381
64Angiofibromas (HP:0010615)2.27986381
65Abnormal protein glycosylation (HP:0012346)2.27731933
66Abnormal glycosylation (HP:0012345)2.27731933
67Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.27731933
68Abnormal protein N-linked glycosylation (HP:0012347)2.27731933
69Concave nail (HP:0001598)2.24404364
70Breast hypoplasia (HP:0003187)2.24179683
71Abnormality of urine glucose concentration (HP:0011016)2.23590382
72Glycosuria (HP:0003076)2.23590382
73Generalized aminoaciduria (HP:0002909)2.23300663
74Degeneration of anterior horn cells (HP:0002398)2.22750162
75Abnormality of the anterior horn cell (HP:0006802)2.22750162
76Absent thumb (HP:0009777)2.22641561
77Abnormal urine phosphate concentration (HP:0012599)2.20987974
78Abnormal hemoglobin (HP:0011902)2.19116431
79Microretrognathia (HP:0000308)2.14217625
80Microvesicular hepatic steatosis (HP:0001414)2.12147214
81Abnormality of serum amino acid levels (HP:0003112)2.11590655
82Cleft eyelid (HP:0000625)2.11031493
83Methylmalonic acidemia (HP:0002912)2.05804564
84Death in infancy (HP:0001522)2.05618397
85Seborrheic dermatitis (HP:0001051)2.02953613
86Poor head control (HP:0002421)2.02695859
87X-linked dominant inheritance (HP:0001423)2.00549907
88Female pseudohermaphroditism (HP:0010458)2.00417705
89Congenital ichthyosiform erythroderma (HP:0007431)2.00216991
90Birth length less than 3rd percentile (HP:0003561)1.95269173
91Epiphyseal stippling (HP:0010655)1.91041674
92Hyperglycinemia (HP:0002154)1.91002090
93Aplasia/hypoplasia of the uterus (HP:0008684)1.88638783
94Testicular atrophy (HP:0000029)1.87514840
95Sparse eyelashes (HP:0000653)1.86000392
96Delusions (HP:0000746)1.85800243
97Meckel diverticulum (HP:0002245)1.85668739
98Myokymia (HP:0002411)1.82654291
99Abnormal number of incisors (HP:0011064)1.81006927
100Abnormality of aromatic amino acid family metabolism (HP:0004338)1.80846142
101Muscle fiber atrophy (HP:0100295)1.79822777
102Ragged-red muscle fibers (HP:0003200)1.79797467
103Trismus (HP:0000211)1.79622659
104Cerebellar dysplasia (HP:0007033)1.78565944
105Ependymoma (HP:0002888)1.78534461
106Abnormality of the axillary hair (HP:0100134)1.78427928
107Abnormality of secondary sexual hair (HP:0009888)1.78427928
108Facial cleft (HP:0002006)1.77945361
109Progressive muscle weakness (HP:0003323)1.76018095
110Abnormality of the ileum (HP:0001549)1.75183740
111Abnormal trabecular bone morphology (HP:0100671)1.74871217
112Triphalangeal thumb (HP:0001199)1.74499007
113Type I transferrin isoform profile (HP:0003642)1.74454364
114Atelectasis (HP:0100750)1.72746180
115Abnormality of the preputium (HP:0100587)1.70167415
116Megaloblastic anemia (HP:0001889)1.68503526
117Blindness (HP:0000618)1.68288535
118Abnormality of methionine metabolism (HP:0010901)1.68006481
119Horseshoe kidney (HP:0000085)1.67843730
120Septo-optic dysplasia (HP:0100842)1.67538492
121Neuroendocrine neoplasm (HP:0100634)1.67034897
122Aplasia/Hypoplasia of the patella (HP:0006498)1.65395638
123Patellar aplasia (HP:0006443)1.65392174
124Opisthotonus (HP:0002179)1.64523749
125Pancytopenia (HP:0001876)1.64489510
126Abnormality of the labia minora (HP:0012880)1.63960936
127Type 2 muscle fiber atrophy (HP:0003554)1.63885535
128Multiple enchondromatosis (HP:0005701)1.63764438
129Hypertensive crisis (HP:0100735)1.63067915
130Abnormality of dicarboxylic acid metabolism (HP:0010995)1.62528694
131Dicarboxylic aciduria (HP:0003215)1.62528694
132Partial duplication of the phalanx of hand (HP:0009999)1.62283852
133Gliosis (HP:0002171)1.61918675
134Partial duplication of thumb phalanx (HP:0009944)1.61552397
135Vomiting (HP:0002013)1.59905723
136External ophthalmoplegia (HP:0000544)1.59410546
137Aplasia/Hypoplasia involving the musculature (HP:0001460)1.57672191
138Depressed nasal ridge (HP:0000457)1.57570335

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EIF2AK16.14955888
2VRK25.98503637
3PBK4.46017049
4EIF2AK33.95590541
5NME23.88171084
6MAP3K113.50299267
7BUB13.39516616
8STK163.17921581
9TLK12.98764590
10WEE12.84766415
11ACVR1B2.57988074
12TESK22.52721846
13NME12.24629445
14BRSK12.02694945
15NEK11.88919392
16BMPR1B1.87680263
17PDK21.77983140
18NUAK11.70177347
19TAF11.67519614
20ARAF1.65923658
21PIM21.61900457
22CASK1.58646519
23SRPK11.54848281
24BCKDK1.53630989
25RPS6KA41.51382372
26LIMK11.49086465
27VRK11.48193974
28AURKA1.34416825
29EIF2AK21.19014459
30BRAF1.13535187
31TESK11.13461082
32MKNK21.12247361
33PNCK1.11099174
34CHEK21.08436551
35DYRK31.05238715
36ABL21.03121909
37CDK190.99749610
38TGFBR10.98255826
39IRAK30.98236144
40KDR0.96795912
41MKNK10.95952229
42PLK40.94957522
43DYRK20.91475270
44PAK40.89941153
45TSSK60.88014262
46DAPK10.86557745
47ADRBK10.85699285
48RPS6KA50.84501446
49STK390.82748016
50CSNK1G10.82621069
51EPHB10.82115364
52IRAK20.81496732
53SMG10.76161933
54MYLK0.74204449
55CSNK1G20.72159716
56PAK10.71230256
57DAPK30.70051538
58ILK0.69617720
59PLK10.69203692
60OXSR10.68940049
61MAP4K20.68131865
62IRAK40.68069623
63PASK0.65034170
64TRIM280.64797058
65MAP2K20.64012223
66CHEK10.61492742
67MAP2K70.60569259
68IRAK10.59219612
69CSNK2A10.59058232
70GRK50.59048763
71BCR0.58372520
72WNK30.57896038
73CSNK1A1L0.57662670
74EPHA20.57456019
75CCNB10.55087285
76CDK70.53764429
77AURKB0.52207487
78OBSCN0.51946292
79CSNK2A20.51218741
80NEK20.50106560
81MST40.49747995
82GRK10.48723804
83WNK40.46480691
84UHMK10.46364895
85MAP3K120.44510199
86ZAK0.43105883
87ATM0.41869129
88MAP3K80.41408083
89CAMK2B0.41309528
90ERBB20.41198451
91PRKCI0.40810613
92RPS6KA20.40714936
93STK38L0.40587806
94CSNK1E0.40374641
95ADRBK20.40366778
96RPS6KB20.40262058
97TIE10.39973966
98SCYL20.39970668
99TAOK20.39784932
100PHKG10.38467254
101PHKG20.38467254
102LRRK20.37605538
103RPS6KC10.37360929
104RPS6KL10.37360929
105PTK2B0.37240356
106INSRR0.36060077
107BRSK20.35434363
108AKT20.35363796
109CDK20.35081634
110CSNK1A10.34437289
111TTK0.34391473
112MAPKAPK30.34387443
113CSNK1G30.34381275
114PIK3CG0.33883441
115CDK40.33178317
116CDK11A0.32041701
117EPHB20.31919746
118CAMK2G0.31673437
119BLK0.31081302
120RPS6KA60.29734647
121MARK10.28817368
122CDK10.28607063
123PRKCG0.26938679
124CDK140.26749971
125GRK70.26477857
126MAPKAPK50.26194128
127PLK30.26136770
128MUSK0.26063660
129MAPKAPK20.25195273
130STK40.25139039
131MAPK70.25087988
132ATR0.24671564
133PIM10.24477736
134AKT30.24284235
135CDC70.22747843
136ROCK20.22640480
137CDK80.21124054

Predicted pathways (KEGG)

RankGene SetZ-score
1Ribosome_Homo sapiens_hsa030105.89943148
2Proteasome_Homo sapiens_hsa030504.87157997
3Oxidative phosphorylation_Homo sapiens_hsa001904.78922519
4Parkinsons disease_Homo sapiens_hsa050124.19038467
5RNA polymerase_Homo sapiens_hsa030203.39130211
6Huntingtons disease_Homo sapiens_hsa050163.05282127
7Alzheimers disease_Homo sapiens_hsa050102.92283668
8Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.69968747
9DNA replication_Homo sapiens_hsa030302.67205227
10Spliceosome_Homo sapiens_hsa030402.47993875
11Mismatch repair_Homo sapiens_hsa034302.32836571
12Protein export_Homo sapiens_hsa030602.26009343
13Pyrimidine metabolism_Homo sapiens_hsa002402.22609802
14Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.82472694
15Cardiac muscle contraction_Homo sapiens_hsa042601.78099575
16Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.59899385
17Nucleotide excision repair_Homo sapiens_hsa034201.57139681
18Homologous recombination_Homo sapiens_hsa034401.56847627
19RNA transport_Homo sapiens_hsa030131.44384187
20Base excision repair_Homo sapiens_hsa034101.41730098
21Sulfur relay system_Homo sapiens_hsa041221.35668683
22Fatty acid elongation_Homo sapiens_hsa000621.34510955
23Folate biosynthesis_Homo sapiens_hsa007901.32342977
24Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.28624376
25Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.25807015
26Purine metabolism_Homo sapiens_hsa002301.20640757
27Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.19282155
28One carbon pool by folate_Homo sapiens_hsa006701.17625126
29Glutathione metabolism_Homo sapiens_hsa004801.17217559
30Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.09749092
31Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.05471506
32Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.98321062
33Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.97467005
34Cysteine and methionine metabolism_Homo sapiens_hsa002700.91167855
35Metabolic pathways_Homo sapiens_hsa011000.87923759
36Pentose phosphate pathway_Homo sapiens_hsa000300.86755245
37Arginine and proline metabolism_Homo sapiens_hsa003300.83814761
38Peroxisome_Homo sapiens_hsa041460.83658257
39Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.81985843
40Carbon metabolism_Homo sapiens_hsa012000.81955672
41Steroid biosynthesis_Homo sapiens_hsa001000.81250055
42Drug metabolism - other enzymes_Homo sapiens_hsa009830.78893341
43Basal transcription factors_Homo sapiens_hsa030220.78698215
44Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.77502684
45Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.74710948
46Pyruvate metabolism_Homo sapiens_hsa006200.73065259
47Cyanoamino acid metabolism_Homo sapiens_hsa004600.72082861
48Cell cycle_Homo sapiens_hsa041100.71759221
49Fanconi anemia pathway_Homo sapiens_hsa034600.71733048
50Systemic lupus erythematosus_Homo sapiens_hsa053220.71150537
51Arachidonic acid metabolism_Homo sapiens_hsa005900.71122812
52Selenocompound metabolism_Homo sapiens_hsa004500.70984590
53Biosynthesis of amino acids_Homo sapiens_hsa012300.68923411
54Phenylalanine metabolism_Homo sapiens_hsa003600.68800254
55Collecting duct acid secretion_Homo sapiens_hsa049660.66345710
56Tyrosine metabolism_Homo sapiens_hsa003500.64960647
57Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.63614086
58RNA degradation_Homo sapiens_hsa030180.62737752
592-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.61954307
60Linoleic acid metabolism_Homo sapiens_hsa005910.59112999
61mRNA surveillance pathway_Homo sapiens_hsa030150.58004785
62Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.54374866
63Regulation of autophagy_Homo sapiens_hsa041400.52913485
64Butanoate metabolism_Homo sapiens_hsa006500.52183447
65Sulfur metabolism_Homo sapiens_hsa009200.52139833
66Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.52128417
67Epstein-Barr virus infection_Homo sapiens_hsa051690.52019127
68p53 signaling pathway_Homo sapiens_hsa041150.51838297
69Propanoate metabolism_Homo sapiens_hsa006400.51734568
70Fructose and mannose metabolism_Homo sapiens_hsa000510.51351167
71N-Glycan biosynthesis_Homo sapiens_hsa005100.45535768
72Vitamin digestion and absorption_Homo sapiens_hsa049770.45334707
73Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.43207236
74Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.42623488
75beta-Alanine metabolism_Homo sapiens_hsa004100.41153885
76Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.40746714
77Vitamin B6 metabolism_Homo sapiens_hsa007500.40413742
78Histidine metabolism_Homo sapiens_hsa003400.39875754
79Chemical carcinogenesis_Homo sapiens_hsa052040.39388542
80Vibrio cholerae infection_Homo sapiens_hsa051100.39291753
81Ether lipid metabolism_Homo sapiens_hsa005650.38131956
82alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.38090402
83Fatty acid metabolism_Homo sapiens_hsa012120.38034647
84Retinol metabolism_Homo sapiens_hsa008300.29953940
85Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.29162444
86Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.27840568
87Pentose and glucuronate interconversions_Homo sapiens_hsa000400.27379735
88Maturity onset diabetes of the young_Homo sapiens_hsa049500.26550587
89Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.25589679
90Arginine biosynthesis_Homo sapiens_hsa002200.24940085
91Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.24836962
92Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.24027499
93Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.23456156
94Autoimmune thyroid disease_Homo sapiens_hsa053200.23112031
95Alcoholism_Homo sapiens_hsa050340.21394001
96Primary bile acid biosynthesis_Homo sapiens_hsa001200.19991055
97SNARE interactions in vesicular transport_Homo sapiens_hsa041300.17877929
98Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.17823819
99Tryptophan metabolism_Homo sapiens_hsa003800.16683339
100Phototransduction_Homo sapiens_hsa047440.16567190
101Basal cell carcinoma_Homo sapiens_hsa052170.15957910
102Galactose metabolism_Homo sapiens_hsa000520.15485809
103Fat digestion and absorption_Homo sapiens_hsa049750.15423771
104Steroid hormone biosynthesis_Homo sapiens_hsa001400.14173458
105Fatty acid degradation_Homo sapiens_hsa000710.13943982
106Asthma_Homo sapiens_hsa053100.10340050
107Non-homologous end-joining_Homo sapiens_hsa034500.10279945
108Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.09670627
109Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.09427954
110Oocyte meiosis_Homo sapiens_hsa041140.08914360
111Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.07407921
112Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.06779306

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