TIMM8A

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 translocase is involved in the import and insertion of hydrophobic membrane proteins from the cytoplasm into the mitochondrial inner membrane. The gene is mutated in Mohr-Tranebjaerg syndrome/Deafness Dystonia Syndrome (MTS/DDS) and it is postulated that MTS/DDS is a mitochondrial disease caused by a defective mitochondrial protein import system. Defects in this gene also cause Jensen syndrome; an X-linked disease with opticoacoustic nerve atrophy and muscle weakness. This protein, along with TIMM13, forms a 70 kDa heterohexamer. Alternative splicing results in multiple transcript variants encoding distinct isoforms. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1proteasome assembly (GO:0043248)5.37869448
2mitochondrial ATP synthesis coupled proton transport (GO:0042776)5.37567976
3energy coupled proton transport, down electrochemical gradient (GO:0015985)4.57484416
4ATP synthesis coupled proton transport (GO:0015986)4.57484416
5establishment of protein localization to mitochondrial membrane (GO:0090151)4.56950534
6rRNA modification (GO:0000154)4.40490357
7CENP-A containing nucleosome assembly (GO:0034080)4.39617627
8chromatin remodeling at centromere (GO:0031055)4.38759670
9negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)4.36846788
10* chaperone-mediated protein transport (GO:0072321)4.34013120
11regulation of mitochondrial translation (GO:0070129)4.29419023
12termination of RNA polymerase III transcription (GO:0006386)4.22554394
13transcription elongation from RNA polymerase III promoter (GO:0006385)4.22554394
14ribosomal small subunit biogenesis (GO:0042274)4.15531045
15ribosomal large subunit biogenesis (GO:0042273)4.13756217
16regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)4.12729735
17mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.07633504
18establishment of integrated proviral latency (GO:0075713)4.07441983
19positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)4.02593680
20anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:04.02252005
21DNA replication checkpoint (GO:0000076)4.01541989
22pseudouridine synthesis (GO:0001522)4.00895922
23negative regulation of ubiquitin-protein transferase activity (GO:0051444)4.00645496
24negative regulation of ligase activity (GO:0051352)4.00645496
25DNA strand elongation involved in DNA replication (GO:0006271)3.92912111
26ribosomal small subunit assembly (GO:0000028)3.92849870
27mitotic metaphase plate congression (GO:0007080)3.92491299
28spliceosomal snRNP assembly (GO:0000387)3.91357249
29telomere maintenance via semi-conservative replication (GO:0032201)3.90932253
30respiratory electron transport chain (GO:0022904)3.90639118
31ribosome assembly (GO:0042255)3.90507967
32maturation of SSU-rRNA (GO:0030490)3.87586090
33electron transport chain (GO:0022900)3.80736461
34DNA strand elongation (GO:0022616)3.79472618
35purine nucleobase biosynthetic process (GO:0009113)3.74444325
36mitochondrial respiratory chain complex assembly (GO:0033108)3.70869896
37* protein targeting to mitochondrion (GO:0006626)3.64813024
38viral transcription (GO:0019083)3.64545912
39rRNA methylation (GO:0031167)3.64497014
40rRNA processing (GO:0006364)3.63906215
41translational termination (GO:0006415)3.62354622
42ribonucleoprotein complex biogenesis (GO:0022613)3.60807180
43nucleobase biosynthetic process (GO:0046112)3.59986840
44histone exchange (GO:0043486)3.59657319
45translation (GO:0006412)3.58198429
46exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.58125427
47protein complex biogenesis (GO:0070271)3.58074905
48regulation of cellular amino acid metabolic process (GO:0006521)3.56557854
49transcription from mitochondrial promoter (GO:0006390)3.55999102
50SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.55088737
51IMP biosynthetic process (GO:0006188)3.51894830
52kinetochore organization (GO:0051383)3.51500912
53nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.51063595
54cotranslational protein targeting to membrane (GO:0006613)3.50820788
55positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.49311848
56kinetochore assembly (GO:0051382)3.49260269
57rRNA metabolic process (GO:0016072)3.47475702
58mitochondrial respiratory chain complex I assembly (GO:0032981)3.45965029
59NADH dehydrogenase complex assembly (GO:0010257)3.45965029
60mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.45965029
61DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.45910437
62formation of translation preinitiation complex (GO:0001731)3.45517687
63protein targeting to ER (GO:0045047)3.44857832
64signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.44440473
65signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.44440473
66signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.44440473
67cellular component biogenesis (GO:0044085)3.42016302
68intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.41546330
69signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.41546330
70DNA replication-independent nucleosome assembly (GO:0006336)3.40171899
71DNA replication-independent nucleosome organization (GO:0034724)3.40171899
72signal transduction involved in DNA damage checkpoint (GO:0072422)3.35945290
73signal transduction involved in DNA integrity checkpoint (GO:0072401)3.35945290
74positive regulation of ligase activity (GO:0051351)3.34768959
75telomere maintenance via recombination (GO:0000722)3.34180123
76* establishment of protein localization to mitochondrion (GO:0072655)3.33954989
77translational initiation (GO:0006413)3.33002948
78* protein localization to mitochondrion (GO:0070585)3.32235888
79establishment of protein localization to endoplasmic reticulum (GO:0072599)3.31719733
80oxidative phosphorylation (GO:0006119)3.31651361
81signal transduction involved in cell cycle checkpoint (GO:0072395)3.31529552
82maturation of 5.8S rRNA (GO:0000460)3.30612196
83metaphase plate congression (GO:0051310)3.30394996
84ribosome biogenesis (GO:0042254)3.29472927
85cullin deneddylation (GO:0010388)3.29312212
86respiratory chain complex IV assembly (GO:0008535)3.28274332
87protein neddylation (GO:0045116)3.26755759
88mitotic recombination (GO:0006312)3.25804691
89protein localization to endoplasmic reticulum (GO:0070972)3.25089462
90protein localization to kinetochore (GO:0034501)3.24957527
91translational elongation (GO:0006414)3.24941430
92mitochondrial RNA metabolic process (GO:0000959)3.24828060
93regulation of ubiquitin-protein transferase activity (GO:0051438)3.23435523
94protein deneddylation (GO:0000338)3.17660450
95transcription-coupled nucleotide-excision repair (GO:0006283)3.17521664
96establishment of viral latency (GO:0019043)3.16049880
97mitotic sister chromatid segregation (GO:0000070)3.14973751
98histone mRNA metabolic process (GO:0008334)3.14552549
99regulation of ligase activity (GO:0051340)3.12276445
100DNA damage response, detection of DNA damage (GO:0042769)3.07081960

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human6.01099756
2KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human5.31555898
3GABP_17652178_ChIP-ChIP_JURKAT_Human4.35349091
4MYC_18555785_ChIP-Seq_MESCs_Mouse4.30515623
5EST1_17652178_ChIP-ChIP_JURKAT_Human4.19713428
6JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.68678863
7E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.65123729
8E2F4_17652178_ChIP-ChIP_JURKAT_Human3.60853272
9CREB1_15753290_ChIP-ChIP_HEK293T_Human3.56191807
10ETS1_20019798_ChIP-Seq_JURKAT_Human3.41494472
11HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.22703986
12EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.17281152
13CHD1_19587682_ChIP-ChIP_MESCs_Mouse3.11577582
14FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human3.00745534
15MYC_18358816_ChIP-ChIP_MESCs_Mouse2.92301054
16MYC_19030024_ChIP-ChIP_MESCs_Mouse2.88401548
17NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.76239653
18MYC_19079543_ChIP-ChIP_MESCs_Mouse2.73288808
19HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.71230404
20FOXM1_23109430_ChIP-Seq_U2OS_Human2.63002263
21ELK1_19687146_ChIP-ChIP_HELA_Human2.57742340
22VDR_23849224_ChIP-Seq_CD4+_Human2.53403184
23MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.50582727
24ELF1_17652178_ChIP-ChIP_JURKAT_Human2.46530307
25THAP11_20581084_ChIP-Seq_MESCs_Mouse2.42911512
26FOXP3_21729870_ChIP-Seq_TREG_Human2.42414360
27DCP1A_22483619_ChIP-Seq_HELA_Human2.36287988
28E2F1_18555785_ChIP-Seq_MESCs_Mouse2.25404397
29NELFA_20434984_ChIP-Seq_ESCs_Mouse2.24722658
30XRN2_22483619_ChIP-Seq_HELA_Human2.24333872
31TTF2_22483619_ChIP-Seq_HELA_Human2.17737785
32SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.17249656
33SRF_21415370_ChIP-Seq_HL-1_Mouse2.07063359
34AR_21909140_ChIP-Seq_LNCAP_Human2.05408007
35FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse2.02159375
36GABP_19822575_ChIP-Seq_HepG2_Human2.00811878
37PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse2.00734057
38PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.98169349
39YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.92667188
40E2F1_21310950_ChIP-Seq_MCF-7_Human1.81878462
41PADI4_21655091_ChIP-ChIP_MCF-7_Human1.79317213
42MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.76703318
43MYCN_18555785_ChIP-Seq_MESCs_Mouse1.74217865
44HOXB4_20404135_ChIP-ChIP_EML_Mouse1.73569524
45YY1_21170310_ChIP-Seq_MESCs_Mouse1.71443060
46ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.68858078
47POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.68129331
48MYC_18940864_ChIP-ChIP_HL60_Human1.61837999
49MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.61746432
50POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.49354472
51KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.42761960
52ZFX_18555785_ChIP-Seq_MESCs_Mouse1.41571357
53NANOG_18555785_ChIP-Seq_MESCs_Mouse1.40884141
54CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.37180055
55NOTCH1_21737748_ChIP-Seq_TLL_Human1.34671641
56KDM5A_27292631_Chip-Seq_BREAST_Human1.33827134
57HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.30387869
58ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.30349861
59SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.23300992
60E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.21968900
61TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.10096226
62ELK1_22589737_ChIP-Seq_MCF10A_Human1.09722426
63CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.09626317
64ERG_20887958_ChIP-Seq_HPC-7_Mouse1.08690527
65BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.07698373
66DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.06616678
67CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.06542956
68SOX2_18555785_ChIP-Seq_MESCs_Mouse0.97870080
69NANOG_16153702_ChIP-ChIP_HESCs_Human0.97692242
70* CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.94663013
71FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.93517535
72SOX17_20123909_ChIP-Seq_XEN_Mouse0.93404475
73POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.88875024
74CEBPB_24764292_ChIP-Seq_MC3T3_Mouse0.87730576
75HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.86719536
76CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.85157511
77SOX2_16153702_ChIP-ChIP_HESCs_Human0.84966636
78CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.84086969
79SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.83751476
80POU5F1_16153702_ChIP-ChIP_HESCs_Human0.82342155
81* TFEB_21752829_ChIP-Seq_HELA_Human0.79449863
82EWS_26573619_Chip-Seq_HEK293_Human0.78437706
83CIITA_25753668_ChIP-Seq_RAJI_Human0.78080669
84DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.77473596
85SALL1_21062744_ChIP-ChIP_HESCs_Human0.77213002
86ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.77097812
87TP63_19390658_ChIP-ChIP_HaCaT_Human0.76495074
88KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.76163883
89CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.75988393
90PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.75144205
91ZNF274_21170338_ChIP-Seq_K562_Hela0.74920999
92KLF4_18555785_ChIP-Seq_MESCs_Mouse0.74241633
93ELF5_23300383_ChIP-Seq_T47D_Human0.74056496
94STAT3_1855785_ChIP-Seq_MESCs_Mouse0.73814671
95ZNF263_19887448_ChIP-Seq_K562_Human0.72382399
96NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.71304193
97GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.69466141
98IRF1_19129219_ChIP-ChIP_H3396_Human0.68838118
99TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.68331365
100ESR1_15608294_ChIP-ChIP_MCF-7_Human0.67471951

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching5.06328692
2MP0010094_abnormal_chromosome_stability4.88693807
3MP0008058_abnormal_DNA_repair4.66658577
4MP0004957_abnormal_blastocyst_morpholog4.56804825
5MP0003111_abnormal_nucleus_morphology4.00748879
6MP0003077_abnormal_cell_cycle3.61864314
7MP0003806_abnormal_nucleotide_metabolis3.29340639
8MP0003718_maternal_effect3.13079715
9MP0008932_abnormal_embryonic_tissue3.08880757
10MP0008057_abnormal_DNA_replication2.84877547
11MP0006036_abnormal_mitochondrial_physio2.56403681
12MP0008007_abnormal_cellular_replicative2.51818942
13MP0003786_premature_aging2.48238792
14MP0003186_abnormal_redox_activity2.41174502
15MP0009697_abnormal_copulation2.37017451
16MP0006292_abnormal_olfactory_placode2.36856864
17MP0006035_abnormal_mitochondrial_morpho2.23652841
18MP0003941_abnormal_skin_development2.04554912
19MP0009379_abnormal_foot_pigmentation1.95192428
20MP0008877_abnormal_DNA_methylation1.81604589
21MP0001730_embryonic_growth_arrest1.78875280
22MP0000350_abnormal_cell_proliferation1.70143616
23MP0000372_irregular_coat_pigmentation1.68300360
24MP0002938_white_spotting1.65683291
25MP0001293_anophthalmia1.52699774
26MP0002160_abnormal_reproductive_system1.48575808
27MP0003567_abnormal_fetal_cardiomyocyte1.45801632
28MP0001697_abnormal_embryo_size1.42850179
29MP0000358_abnormal_cell_content/1.36562526
30MP0006072_abnormal_retinal_apoptosis1.36400445
31MP0010030_abnormal_orbit_morphology1.33533838
32MP0000313_abnormal_cell_death1.26475102
33MP0001529_abnormal_vocalization1.26406266
34MP0002210_abnormal_sex_determination1.25349566
35MP0005380_embryogenesis_phenotype1.24923718
36MP0001672_abnormal_embryogenesis/_devel1.24923718
37MP0002163_abnormal_gland_morphology1.24487313
38MP0004147_increased_porphyrin_level1.24276116
39MP0001764_abnormal_homeostasis1.21644774
40MP0005408_hypopigmentation1.21292903
41MP0002102_abnormal_ear_morphology1.20334330
42MP0002080_prenatal_lethality1.19413066
43MP0003136_yellow_coat_color1.16455919
44MP0001929_abnormal_gametogenesis1.14546651
45MP0002085_abnormal_embryonic_tissue1.11236231
46MP0008995_early_reproductive_senescence1.10417433
47MP0008789_abnormal_olfactory_epithelium1.07512283
48MP0001145_abnormal_male_reproductive1.03724055
49MP0003984_embryonic_growth_retardation1.00471177
50MP0009672_abnormal_birth_weight0.99859886
51MP0010307_abnormal_tumor_latency0.99181582
52MP0002837_dystrophic_cardiac_calcinosis0.98835383
53MP0000653_abnormal_sex_gland0.98645573
54MP0002088_abnormal_embryonic_growth/wei0.96770380
55MP0002254_reproductive_system_inflammat0.96459729
56MP0005389_reproductive_system_phenotype0.94415024
57MP0000647_abnormal_sebaceous_gland0.92907055
58MP0005395_other_phenotype0.92241532
59MP0002084_abnormal_developmental_patter0.90563468
60MP0001346_abnormal_lacrimal_gland0.89233677
61MP0003123_paternal_imprinting0.88915516
62MP0003937_abnormal_limbs/digits/tail_de0.88613847
63MP0008872_abnormal_physiological_respon0.87736103
64MP0004215_abnormal_myocardial_fiber0.85445204
65MP0002019_abnormal_tumor_incidence0.81944118
66MP0003315_abnormal_perineum_morphology0.80289835
67MP0005670_abnormal_white_adipose0.79341089
68MP0001881_abnormal_mammary_gland0.77903134
69MP0001286_abnormal_eye_development0.77249352
70MP0002736_abnormal_nociception_after0.76481240
71MP0000049_abnormal_middle_ear0.75193312
72MP0003890_abnormal_embryonic-extraembry0.74706665
73MP0001119_abnormal_female_reproductive0.70801468
74MP0003698_abnormal_male_reproductive0.70729924
75MP0005084_abnormal_gallbladder_morpholo0.70564996
76MP0002697_abnormal_eye_size0.70320085
77MP0005501_abnormal_skin_physiology0.70082872
78MP0005379_endocrine/exocrine_gland_phen0.67925177
79MP0002751_abnormal_autonomic_nervous0.66679039
80MP0002095_abnormal_skin_pigmentation0.65475848
81MP0002111_abnormal_tail_morphology0.65007267
82MP0005332_abnormal_amino_acid0.64701860
83MP0001188_hyperpigmentation0.63899725
84MP0000490_abnormal_crypts_of0.63631707
85MP0005075_abnormal_melanosome_morpholog0.63393785
86MP0001727_abnormal_embryo_implantation0.63105151
87MP0005253_abnormal_eye_physiology0.63100588
88MP0002233_abnormal_nose_morphology0.61836759
89MP0002277_abnormal_respiratory_mucosa0.61296295
90MP0008875_abnormal_xenobiotic_pharmacok0.60568187
91MP0003195_calcinosis0.60341613
92MP0003119_abnormal_digestive_system0.60233296
93MP0002086_abnormal_extraembryonic_tissu0.60062597
94MP0003950_abnormal_plasma_membrane0.59919701
95MP0008873_increased_physiological_sensi0.59650945
96MP0000749_muscle_degeneration0.58732883
97MP0005410_abnormal_fertilization0.58620242
98MP0005636_abnormal_mineral_homeostasis0.57838662
99MP0001485_abnormal_pinna_reflex0.57622637
100MP0004197_abnormal_fetal_growth/weight/0.56644246

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)5.07068577
2Abnormal mitochondria in muscle tissue (HP:0008316)4.65809226
3Acute encephalopathy (HP:0006846)4.60647991
4Mitochondrial inheritance (HP:0001427)4.36358888
5Increased hepatocellular lipid droplets (HP:0006565)4.33242605
6Increased CSF lactate (HP:0002490)4.22650184
7Progressive macrocephaly (HP:0004481)4.10437874
8Lipid accumulation in hepatocytes (HP:0006561)3.99659577
9Hepatocellular necrosis (HP:0001404)3.66557504
10Reticulocytopenia (HP:0001896)3.61568588
11Decreased activity of mitochondrial respiratory chain (HP:0008972)3.49918151
12Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.49918151
13Cerebral edema (HP:0002181)3.41383294
14Hepatic necrosis (HP:0002605)3.34184731
15Chromosomal breakage induced by crosslinking agents (HP:0003221)3.33663922
16Renal Fanconi syndrome (HP:0001994)3.31206224
17Abnormal number of erythroid precursors (HP:0012131)3.28138591
18Macrocytic anemia (HP:0001972)3.25087516
19Abnormality of cells of the erythroid lineage (HP:0012130)3.23007644
20Increased serum lactate (HP:0002151)3.20001738
21Chromsome breakage (HP:0040012)3.19709009
22Meckel diverticulum (HP:0002245)3.08224018
23Increased intramyocellular lipid droplets (HP:0012240)3.01331488
24Abnormality of the preputium (HP:0100587)3.00946720
25Lactic acidosis (HP:0003128)2.94398296
26Abnormality of the ileum (HP:0001549)2.89048636
27Birth length less than 3rd percentile (HP:0003561)2.88934571
28Aplastic anemia (HP:0001915)2.83224130
29Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.83157382
30Type I transferrin isoform profile (HP:0003642)2.82170461
31Microvesicular hepatic steatosis (HP:0001414)2.82149136
32Increased serum pyruvate (HP:0003542)2.81732180
33Aplasia/Hypoplasia of the uvula (HP:0010293)2.81401089
34Exercise intolerance (HP:0003546)2.73051369
35Abnormality of chromosome stability (HP:0003220)2.72805406
36Respiratory failure (HP:0002878)2.65056037
37Abnormality of methionine metabolism (HP:0010901)2.64688976
38Abnormality of glycolysis (HP:0004366)2.64102984
39Oral leukoplakia (HP:0002745)2.61871554
40Reduced antithrombin III activity (HP:0001976)2.61587414
41Leukodystrophy (HP:0002415)2.58144829
42Exertional dyspnea (HP:0002875)2.57643448
433-Methylglutaconic aciduria (HP:0003535)2.56859640
44Respiratory difficulties (HP:0002880)2.54733546
45Multiple enchondromatosis (HP:0005701)2.51894140
46Colon cancer (HP:0003003)2.48035894
47Increased muscle lipid content (HP:0009058)2.44770935
48Aplasia/Hypoplasia of the sacrum (HP:0008517)2.44511375
49Megaloblastic anemia (HP:0001889)2.37772323
50Methylmalonic acidemia (HP:0002912)2.33829886
51Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.33283892
52Small intestinal stenosis (HP:0012848)2.30845369
53Duodenal stenosis (HP:0100867)2.30845369
54Methylmalonic aciduria (HP:0012120)2.29951245
55Cerebral hypomyelination (HP:0006808)2.27657349
56Pancytopenia (HP:0001876)2.27122165
57Rough bone trabeculation (HP:0100670)2.26443299
58Lethargy (HP:0001254)2.26091841
59Absent thumb (HP:0009777)2.24908902
60Abnormal lung lobation (HP:0002101)2.24821934
61Abnormal protein glycosylation (HP:0012346)2.24370494
62Abnormal glycosylation (HP:0012345)2.24370494
63Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.24370494
64Abnormal protein N-linked glycosylation (HP:0012347)2.24370494
65Sparse eyelashes (HP:0000653)2.22322416
66Optic disc pallor (HP:0000543)2.21590680
67Horseshoe kidney (HP:0000085)2.20354071
68Degeneration of anterior horn cells (HP:0002398)2.18644725
69Abnormality of the anterior horn cell (HP:0006802)2.18644725
70Pallor (HP:0000980)2.18089292
71Abnormality of serum amino acid levels (HP:0003112)2.12876536
72Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.12637755
73Abnormality of alanine metabolism (HP:0010916)2.12637755
74Hyperalaninemia (HP:0003348)2.12637755
75Testicular atrophy (HP:0000029)2.12610845
76CNS demyelination (HP:0007305)2.09283854
77Cleft eyelid (HP:0000625)2.08818545
78Abnormality of aspartate family amino acid metabolism (HP:0010899)2.08738735
79Triphalangeal thumb (HP:0001199)2.04957248
80Myelodysplasia (HP:0002863)2.03200126
81Abnormality of the duodenum (HP:0002246)2.02948349
82Congenital, generalized hypertrichosis (HP:0004540)2.01293282
83Abnormality of renal resorption (HP:0011038)2.00924466
84Abnormality of the labia minora (HP:0012880)2.00281994
85Facial cleft (HP:0002006)1.94200911
86Abnormality of the pons (HP:0007361)1.93666572
87Absent radius (HP:0003974)1.92304590
88Hyperglycinemia (HP:0002154)1.87530848
89Absent forearm bone (HP:0003953)1.81457142
90Aplasia involving forearm bones (HP:0009822)1.81457142
91Duplicated collecting system (HP:0000081)1.81174298
92Hypoplasia of the pons (HP:0012110)1.79522355
93Amniotic constriction ring (HP:0009775)1.77327785
94Abnormality of placental membranes (HP:0011409)1.77327785
95Progressive muscle weakness (HP:0003323)1.76045458
96Sloping forehead (HP:0000340)1.75040574
97Stenosis of the external auditory canal (HP:0000402)1.74235415
98X-linked dominant inheritance (HP:0001423)1.73404767
99Abnormality of the renal collecting system (HP:0004742)1.73403653
100Abnormal trabecular bone morphology (HP:0100671)1.72183030

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB15.02045085
2VRK24.28708254
3PBK3.67198337
4NEK13.45906675
5SRPK13.42811422
6STK163.00537594
7CDC72.88468229
8NME22.85399621
9EIF2AK12.84248976
10MST42.83821481
11ZAK2.67928588
12TTK2.44518932
13EIF2AK32.38017694
14VRK12.21688072
15PLK32.20402958
16PLK42.19670572
17NME12.15568077
18TSSK62.12981234
19WEE11.91234775
20NUAK11.86868420
21BRSK21.84962130
22TRIM281.78438438
23PLK11.60925110
24MKNK11.55811730
25PDK21.53718449
26MKNK21.50541853
27BRSK11.36286492
28TAF11.33540046
29AURKB1.23309119
30MAP3K121.18563542
31NEK21.16195989
32CHEK21.15022508
33CCNB11.13886589
34OXSR11.12268168
35STK391.10878207
36ATR1.06912561
37WNK31.05765314
38BCKDK0.96680202
39EIF2AK20.95294421
40TLK10.95029215
41STK40.93915591
42AURKA0.90581662
43TNIK0.89472489
44WNK40.87190868
45INSRR0.81198754
46PAK40.80777289
47CHEK10.75625480
48MAP4K20.75227013
49BMPR1B0.72795329
50CDK70.72160153
51TESK20.71047957
52PASK0.68548937
53CSNK2A20.68395442
54DYRK20.68099291
55CSNK2A10.68090864
56ATM0.64629625
57RPS6KB20.61553714
58CDK190.61197793
59DAPK10.59150032
60CDK80.58905081
61CSNK1G30.58246964
62ALK0.57284479
63PLK20.56731446
64CSNK1G10.56353610
65STK30.50319623
66ILK0.48586851
67ABL20.46754708
68DYRK30.44383763
69ERBB40.43444997
70CSNK1A1L0.42845713
71SCYL20.42148979
72CSNK1E0.40543795
73CDK10.39876119
74CSNK1G20.39355256
75STK100.39286373
76MAP3K80.38704875
77RPS6KA50.37366592
78GRK10.37141391
79PRKCI0.37104937
80CDK20.35716725
81BCR0.32781590
82PAK10.32363376
83KDR0.30965041
84RPS6KA40.30771345
85MST1R0.29761442
86MAPKAPK50.29226957
87PIM20.27052162
88CDK30.26989898
89LIMK10.26304732
90CLK10.26213235
91ACVR1B0.25254478
92AKT20.25209552
93MAP2K70.23669374
94FLT30.23593677
95CDK40.23106848
96CSNK1A10.22581578
97FGFR10.20294851
98CDK90.20235514
99PRKDC0.19875680
100STK38L0.17752609

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030504.48908092
2Ribosome_Homo sapiens_hsa030104.00256150
3DNA replication_Homo sapiens_hsa030303.63020686
4Mismatch repair_Homo sapiens_hsa034303.35469078
5Oxidative phosphorylation_Homo sapiens_hsa001903.34430520
6Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.26363379
7RNA polymerase_Homo sapiens_hsa030203.25323145
8Parkinsons disease_Homo sapiens_hsa050122.96601283
9Homologous recombination_Homo sapiens_hsa034402.79380114
10Protein export_Homo sapiens_hsa030602.53627631
11Spliceosome_Homo sapiens_hsa030402.37867335
12Base excision repair_Homo sapiens_hsa034102.23740227
13Nucleotide excision repair_Homo sapiens_hsa034202.23390672
14Huntingtons disease_Homo sapiens_hsa050162.19606630
15RNA transport_Homo sapiens_hsa030132.09841826
16Pyrimidine metabolism_Homo sapiens_hsa002402.03839561
17Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.99748104
18One carbon pool by folate_Homo sapiens_hsa006701.98996577
19Non-homologous end-joining_Homo sapiens_hsa034501.97068770
20Fanconi anemia pathway_Homo sapiens_hsa034601.93298243
21Basal transcription factors_Homo sapiens_hsa030221.91743764
22Alzheimers disease_Homo sapiens_hsa050101.86102571
23RNA degradation_Homo sapiens_hsa030181.66592398
24Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.63917680
25Cell cycle_Homo sapiens_hsa041101.59081220
26Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.48690378
27Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.39741030
28Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.37160064
29Cysteine and methionine metabolism_Homo sapiens_hsa002701.36416093
30Purine metabolism_Homo sapiens_hsa002301.35173190
31Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.29029573
32Folate biosynthesis_Homo sapiens_hsa007901.27677847
33Fatty acid elongation_Homo sapiens_hsa000621.23301238
34Pyruvate metabolism_Homo sapiens_hsa006201.23135865
35Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.15996964
36Propanoate metabolism_Homo sapiens_hsa006401.09760019
37Cardiac muscle contraction_Homo sapiens_hsa042601.06094296
38Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.02587717
39Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.01802476
40Glutathione metabolism_Homo sapiens_hsa004801.01799510
412-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.01407940
42mRNA surveillance pathway_Homo sapiens_hsa030150.98937712
43Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.95894356
44Biosynthesis of amino acids_Homo sapiens_hsa012300.92889357
45Vitamin B6 metabolism_Homo sapiens_hsa007500.90966586
46Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.89956592
47Selenocompound metabolism_Homo sapiens_hsa004500.87464211
48Carbon metabolism_Homo sapiens_hsa012000.84098260
49Steroid biosynthesis_Homo sapiens_hsa001000.81760391
50Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.79331758
51Metabolic pathways_Homo sapiens_hsa011000.77178549
52Sulfur relay system_Homo sapiens_hsa041220.75898966
53p53 signaling pathway_Homo sapiens_hsa041150.73382379
54Drug metabolism - other enzymes_Homo sapiens_hsa009830.64752104
55Oocyte meiosis_Homo sapiens_hsa041140.64717855
56Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.63153266
57Pentose and glucuronate interconversions_Homo sapiens_hsa000400.61105854
58Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.60117530
59Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.59874902
60Sulfur metabolism_Homo sapiens_hsa009200.56606307
61Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.54779877
62N-Glycan biosynthesis_Homo sapiens_hsa005100.53549674
63Arginine and proline metabolism_Homo sapiens_hsa003300.52863228
64Peroxisome_Homo sapiens_hsa041460.51763590
65Epstein-Barr virus infection_Homo sapiens_hsa051690.50987908
66Collecting duct acid secretion_Homo sapiens_hsa049660.47473797
67Caffeine metabolism_Homo sapiens_hsa002320.45486699
68Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.40578810
69Fatty acid metabolism_Homo sapiens_hsa012120.39865424
70Butanoate metabolism_Homo sapiens_hsa006500.39787663
71Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.38859899
72Regulation of autophagy_Homo sapiens_hsa041400.38414531
73Pentose phosphate pathway_Homo sapiens_hsa000300.36698775
74Vitamin digestion and absorption_Homo sapiens_hsa049770.36519996
75Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.35620694
76Fatty acid degradation_Homo sapiens_hsa000710.34290703
77Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.33243158
78Chemical carcinogenesis_Homo sapiens_hsa052040.28341882
79Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.27382072
80Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.26902659
81Tryptophan metabolism_Homo sapiens_hsa003800.24864081
82Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.23394508
83Systemic lupus erythematosus_Homo sapiens_hsa053220.23037333
84Tyrosine metabolism_Homo sapiens_hsa003500.22536279
85Fructose and mannose metabolism_Homo sapiens_hsa000510.21836482
86beta-Alanine metabolism_Homo sapiens_hsa004100.20388508
87Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.18998526
88Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.15988778
89Retinol metabolism_Homo sapiens_hsa008300.15222363
90Galactose metabolism_Homo sapiens_hsa000520.13834529
91Primary bile acid biosynthesis_Homo sapiens_hsa001200.12638660
92Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.11971767
93Steroid hormone biosynthesis_Homo sapiens_hsa001400.10824942
94TGF-beta signaling pathway_Homo sapiens_hsa043500.09532592
95SNARE interactions in vesicular transport_Homo sapiens_hsa041300.08697627
96Phototransduction_Homo sapiens_hsa047440.07919133
97Mineral absorption_Homo sapiens_hsa049780.05606661
98Nitrogen metabolism_Homo sapiens_hsa009100.05434776
99Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.05259947
100Phenylalanine metabolism_Homo sapiens_hsa003600.04133869

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