MTCH2

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 SLC25 family of nuclear-encoded transporters that are localized in the inner mitochondrial membrane. Members of this superfamily are involved in many metabolic pathways and cell functions. Genome-wide association studies in human have identified single-nucleotide polymorphisms in several loci associated with obesity. This gene is one such locus, which is highly expressed in white adipose tissue and adipocytes, and thought to play a regulatory role in adipocyte differentiation and biology. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study showed this gene to be an authentic stop codon readthrough target, and that its mRNA can give rise to an additional C-terminally extended isoform by use of an alternative in-frame translation termination codon. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1mitochondrial ATP synthesis coupled proton transport (GO:0042776)5.87561679
2ATP synthesis coupled proton transport (GO:0015986)5.39450619
3energy coupled proton transport, down electrochemical gradient (GO:0015985)5.39450619
4proteasome assembly (GO:0043248)4.80028891
5cullin deneddylation (GO:0010388)4.59040118
6mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.47667711
7respiratory electron transport chain (GO:0022904)4.40299099
8establishment of integrated proviral latency (GO:0075713)4.34658739
9electron transport chain (GO:0022900)4.31462739
10protein deneddylation (GO:0000338)4.30626265
11oxidative phosphorylation (GO:0006119)4.19508737
12regulation of cellular amino acid metabolic process (GO:0006521)4.06308265
13tricarboxylic acid cycle (GO:0006099)3.91747367
14purine nucleobase biosynthetic process (GO:0009113)3.89606546
15negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.89331175
16positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.70578189
17regulation of mitochondrial translation (GO:0070129)3.60477614
18regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.58484453
19negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.57504737
20negative regulation of ligase activity (GO:0051352)3.57504737
21establishment of viral latency (GO:0019043)3.54770852
22DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.49705023
23nucleobase biosynthetic process (GO:0046112)3.48454220
24aldehyde catabolic process (GO:0046185)3.48160331
25mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.47985678
26mitochondrial respiratory chain complex I assembly (GO:0032981)3.47985678
27NADH dehydrogenase complex assembly (GO:0010257)3.47985678
28anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.43059345
29signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.42882158
30intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.42882158
31signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.39988975
32signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.39988975
33signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.39988975
34chaperone-mediated protein transport (GO:0072321)3.39859730
35establishment of protein localization to mitochondrial membrane (GO:0090151)3.39651225
36GTP biosynthetic process (GO:0006183)3.38553475
37guanosine-containing compound biosynthetic process (GO:1901070)3.34892366
38quinone biosynthetic process (GO:1901663)3.33826752
39ubiquinone biosynthetic process (GO:0006744)3.33826752
40NADH metabolic process (GO:0006734)3.32205004
41purine nucleoside triphosphate biosynthetic process (GO:0009145)3.32068563
42signal transduction involved in DNA damage checkpoint (GO:0072422)3.31513474
43signal transduction involved in DNA integrity checkpoint (GO:0072401)3.31513474
44purine ribonucleoside triphosphate biosynthetic process (GO:0009206)3.28339394
45signal transduction involved in cell cycle checkpoint (GO:0072395)3.26962028
46CENP-A containing nucleosome assembly (GO:0034080)3.26649865
47ATP biosynthetic process (GO:0006754)3.25421085
48positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.25306208
49maturation of SSU-rRNA (GO:0030490)3.24120041
50chromatin remodeling at centromere (GO:0031055)3.23822614
51antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:3.21652338
52protein complex biogenesis (GO:0070271)3.21242539
53L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.19089502
54amino acid salvage (GO:0043102)3.18812454
55L-methionine salvage (GO:0071267)3.18812454
56L-methionine biosynthetic process (GO:0071265)3.18812454
57formation of translation preinitiation complex (GO:0001731)3.14844291
58maturation of 5.8S rRNA (GO:0000460)3.13150242
59positive regulation of ligase activity (GO:0051351)3.11905003
60mitochondrial respiratory chain complex assembly (GO:0033108)3.11616514
61DNA strand elongation involved in DNA replication (GO:0006271)3.10421593
62telomere maintenance via semi-conservative replication (GO:0032201)3.09862359
63ubiquinone metabolic process (GO:0006743)3.08723252
64regulation of cellular amine metabolic process (GO:0033238)3.08285114
65protein neddylation (GO:0045116)3.08076533
66serine family amino acid biosynthetic process (GO:0009070)3.07595656
67protein-cofactor linkage (GO:0018065)3.02203970
68protein targeting to mitochondrion (GO:0006626)3.00745141
69pteridine-containing compound biosynthetic process (GO:0042559)3.00545126
70UTP biosynthetic process (GO:0006228)3.00276732
71establishment of protein localization to mitochondrion (GO:0072655)2.99419974
72IMP biosynthetic process (GO:0006188)2.99133963
73DNA strand elongation (GO:0022616)2.98200387
74mitotic metaphase plate congression (GO:0007080)2.97735583
75erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)2.97515263
76L-phenylalanine metabolic process (GO:0006558)2.97515263
77UTP metabolic process (GO:0046051)2.96355499
78ribonucleoside triphosphate biosynthetic process (GO:0009201)2.95392308
79antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)2.95176671
80protein maturation by protein folding (GO:0022417)2.94476771
81erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)2.93868766
82L-phenylalanine catabolic process (GO:0006559)2.93868766
83ribosome assembly (GO:0042255)2.93819907
84tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.93232830
85RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.93232830
86branched-chain amino acid catabolic process (GO:0009083)2.93189987
87tRNA aminoacylation for protein translation (GO:0006418)2.93167350
88amino acid activation (GO:0043038)2.90079381
89tRNA aminoacylation (GO:0043039)2.90079381
907-methylguanosine mRNA capping (GO:0006370)2.89851172
91aerobic respiration (GO:0009060)2.88703402
92glyoxylate metabolic process (GO:0046487)2.86167258
93termination of RNA polymerase III transcription (GO:0006386)2.86098614
94transcription elongation from RNA polymerase III promoter (GO:0006385)2.86098614
95regulation of ubiquitin-protein transferase activity (GO:0051438)2.84887006
96DNA damage response, detection of DNA damage (GO:0042769)2.83924064
97nucleobase-containing small molecule interconversion (GO:0015949)2.83730684
98folic acid metabolic process (GO:0046655)2.83265544
997-methylguanosine RNA capping (GO:0009452)2.82856345
100RNA capping (GO:0036260)2.82856345
101DNA ligation (GO:0006266)2.82409754
102glycine metabolic process (GO:0006544)2.82192794
103respiratory chain complex IV assembly (GO:0008535)2.81921584
104ribosomal large subunit biogenesis (GO:0042273)2.81481957
105DNA deamination (GO:0045006)2.79320248
106exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.78538406
107nucleoside triphosphate biosynthetic process (GO:0009142)2.78435734
108* protein localization to mitochondrion (GO:0070585)2.77976472
109mitochondrial transport (GO:0006839)2.77813437
110purine nucleoside monophosphate biosynthetic process (GO:0009127)2.77535825
111purine ribonucleoside monophosphate biosynthetic process (GO:0009168)2.77535825
112nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.76033734
113regulation of ligase activity (GO:0051340)2.75415190
114deoxyribonucleotide biosynthetic process (GO:0009263)2.72158168
115cellular component biogenesis (GO:0044085)2.71276539
116folic acid-containing compound biosynthetic process (GO:0009396)2.70254534
117rRNA modification (GO:0000154)2.68908823
118metaphase plate congression (GO:0051310)2.66596530
119L-serine metabolic process (GO:0006563)2.66275697
120positive regulation of cell cycle arrest (GO:0071158)2.65462988
121ribonucleoprotein complex biogenesis (GO:0022613)2.64805131
122pseudouridine synthesis (GO:0001522)2.64268887
123peptidyl-histidine modification (GO:0018202)2.63747192
124inner mitochondrial membrane organization (GO:0007007)2.63660496
125spliceosomal snRNP assembly (GO:0000387)2.63324019
126cytochrome complex assembly (GO:0017004)2.62986736
127negative regulation of protein ubiquitination (GO:0031397)2.62947725
128translation (GO:0006412)2.62919546
129intracellular protein transmembrane import (GO:0044743)2.61012896

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.88487489
2GABP_17652178_ChIP-ChIP_JURKAT_Human4.00506904
3* JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.96500852
4* MYC_18555785_ChIP-Seq_MESCs_Mouse3.78149008
5E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.73523360
6EST1_17652178_ChIP-ChIP_JURKAT_Human3.66180494
7CREB1_15753290_ChIP-ChIP_HEK293T_Human3.65584204
8EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.31197278
9ETS1_20019798_ChIP-Seq_JURKAT_Human3.30383526
10NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.06275491
11MYC_18358816_ChIP-ChIP_MESCs_Mouse2.96221410
12PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.92092098
13CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.85720770
14CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.83668911
15HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.80144498
16ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.68742879
17HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.62014539
18MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.61876445
19E2F7_22180533_ChIP-Seq_HELA_Human2.59257403
20* MYC_19030024_ChIP-ChIP_MESCs_Mouse2.54565906
21PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.48731468
22* E2F1_18555785_ChIP-Seq_MESCs_Mouse2.38151025
23SRF_21415370_ChIP-Seq_HL-1_Mouse2.33502668
24DCP1A_22483619_ChIP-Seq_HELA_Human2.33419223
25MYC_19079543_ChIP-ChIP_MESCs_Mouse2.30146046
26CEBPA_23403033_ChIP-Seq_LIVER_Mouse2.24714970
27SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.23530446
28VDR_23849224_ChIP-Seq_CD4+_Human2.20246256
29NELFA_20434984_ChIP-Seq_ESCs_Mouse2.13285878
30RBPJ_22232070_ChIP-Seq_NCS_Mouse2.10953392
31ELF1_17652178_ChIP-ChIP_JURKAT_Human2.07595592
32CEBPB_23403033_ChIP-Seq_LIVER_Mouse2.06547376
33FOXM1_23109430_ChIP-Seq_U2OS_Human2.01929272
34THAP11_20581084_ChIP-Seq_MESCs_Mouse2.01800187
35YY1_21170310_ChIP-Seq_MESCs_Mouse1.97428898
36XRN2_22483619_ChIP-Seq_HELA_Human1.95822749
37ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.93459258
38* GABP_19822575_ChIP-Seq_HepG2_Human1.89628036
39* PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.85315048
40EGR1_23403033_ChIP-Seq_LIVER_Mouse1.81840331
41FOXP3_21729870_ChIP-Seq_TREG_Human1.81791080
42E2F4_17652178_ChIP-ChIP_JURKAT_Human1.75675518
43POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.72750028
44ELK1_19687146_ChIP-ChIP_HELA_Human1.70461598
45* FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.67967523
46HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.67843785
47* MYCN_18555785_ChIP-Seq_MESCs_Mouse1.56732295
48FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.56571082
49AR_21909140_ChIP-Seq_LNCAP_Human1.56361992
50PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.56268301
51* TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.52012672
52ZNF263_19887448_ChIP-Seq_K562_Human1.50133286
53TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.47984109
54ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.47719837
55* RXR_22158963_ChIP-Seq_LIVER_Mouse1.47250379
56* TTF2_22483619_ChIP-Seq_HELA_Human1.44885072
57MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.43549961
58POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.41743864
59* YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.40152844
60* KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.38671775
61* ZFX_18555785_ChIP-Seq_MESCs_Mouse1.38385644
62PADI4_21655091_ChIP-ChIP_MCF-7_Human1.37513790
63* PPARA_22158963_ChIP-Seq_LIVER_Mouse1.37222682
64NANOG_18555785_ChIP-Seq_MESCs_Mouse1.36875118
65ELK1_22589737_ChIP-Seq_MCF10A_Human1.21832701
66HOXB4_20404135_ChIP-ChIP_EML_Mouse1.21385762
67VDR_22108803_ChIP-Seq_LS180_Human1.16555226
68ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.16004432
69* SOX17_20123909_ChIP-Seq_XEN_Mouse1.13570928
70BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.13136399
71CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.10833133
72MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.03379395
73CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human1.02643234
74NANOG_16153702_ChIP-ChIP_HESCs_Human1.01764629
75ERG_20887958_ChIP-Seq_HPC-7_Mouse1.00952368
76DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.97365964
77SMAD4_19686287_ChIP-ChIP_HaCaT_Human0.95377496
78STAT3_1855785_ChIP-Seq_MESCs_Mouse0.95070762
79POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.95030612
80CCND1_20090754_ChIP-ChIP_RETINA_Mouse0.92686716
81SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.92671516
82KDM5A_27292631_Chip-Seq_BREAST_Human0.92271150
83TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.92050072
84TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.91953621
85* TFEB_21752829_ChIP-Seq_HELA_Human0.90834739
86NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.90203957
87* CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.89432334
88LXR_22158963_ChIP-Seq_LIVER_Mouse0.88123745
89* DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.86867468
90MYC_18940864_ChIP-ChIP_HL60_Human0.86334135
91SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.85408569
92* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.82719099
93TBX5_21415370_ChIP-Seq_HL-1_Mouse0.82004678
94IRF1_19129219_ChIP-ChIP_H3396_Human0.81324076
95* TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.80320282
96EOMES_21245162_ChIP-Seq_HESCs_Human0.79946578
97SOX2_18555785_ChIP-Seq_MESCs_Mouse0.79814333
98SOX2_18692474_ChIP-Seq_MEFs_Mouse0.79789225
99KAP1_22055183_ChIP-Seq_ESCs_Mouse0.79511905
100SOX2_16153702_ChIP-ChIP_HESCs_Human0.79129876
101* FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.78535624
102CTCF_18555785_ChIP-Seq_MESCs_Mouse0.77192571
103E2F1_21310950_ChIP-Seq_MCF-7_Human0.76837308
104ESR1_15608294_ChIP-ChIP_MCF-7_Human0.76804927
105FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.75914114
106SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.75344402
107CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.75258441
108HTT_18923047_ChIP-ChIP_STHdh_Human0.75189582
109NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.74652513
110KLF4_18555785_ChIP-Seq_MESCs_Mouse0.74125393
111* TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.72580941
112FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.72513029
113* E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.71266786
114HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.71248829
115RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.70759366
116* OCT4_18692474_ChIP-Seq_MEFs_Mouse0.70720244
117NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.70018464
118* KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.69422913

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003806_abnormal_nucleotide_metabolis6.11335533
2MP0002139_abnormal_hepatobiliary_system4.64461422
3MP0005360_urolithiasis4.33053617
4MP0005085_abnormal_gallbladder_physiolo3.43737149
5MP0006036_abnormal_mitochondrial_physio3.17650847
6MP0003186_abnormal_redox_activity2.95683018
7MP0005365_abnormal_bile_salt2.82035076
8MP0003693_abnormal_embryo_hatching2.60313390
9MP0003195_calcinosis2.59396924
10MP0008875_abnormal_xenobiotic_pharmacok2.50948301
11MP0005332_abnormal_amino_acid2.44548391
12MP0004957_abnormal_blastocyst_morpholog2.37453028
13MP0003941_abnormal_skin_development2.36852326
14MP0006035_abnormal_mitochondrial_morpho2.36124985
15MP0005410_abnormal_fertilization2.20208095
16MP0009697_abnormal_copulation2.14719141
17MP0004043_abnormal_pH_regulation2.13250165
18MP0001529_abnormal_vocalization2.07612341
19MP0005670_abnormal_white_adipose2.04277686
20MP0002837_dystrophic_cardiac_calcinosis2.03055419
21MP0003718_maternal_effect1.98642437
22MP0001764_abnormal_homeostasis1.98533116
23MP0009379_abnormal_foot_pigmentation1.98184520
24MP0002938_white_spotting1.88742321
25MP0010329_abnormal_lipoprotein_level1.75576404
26MP0008932_abnormal_embryonic_tissue1.71563189
27MP0008058_abnormal_DNA_repair1.71078638
28MP0001666_abnormal_nutrient_absorption1.67099333
29MP0003646_muscle_fatigue1.65712366
30MP0010094_abnormal_chromosome_stability1.63302729
31MP0002254_reproductive_system_inflammat1.58216830
32MP0005266_abnormal_metabolism1.57862066
33MP0004019_abnormal_vitamin_homeostasis1.52407781
34MP0010030_abnormal_orbit_morphology1.47103771
35MP0004147_increased_porphyrin_level1.44280881
36MP0002876_abnormal_thyroid_physiology1.43919435
37MP0005408_hypopigmentation1.40193250
38MP0001661_extended_life_span1.36784895
39MP0003111_abnormal_nucleus_morphology1.31174200
40MP0003077_abnormal_cell_cycle1.29495938
41MP0001293_anophthalmia1.28121208
42MP0005084_abnormal_gallbladder_morpholo1.27893629
43MP0002118_abnormal_lipid_homeostasis1.27596978
44MP0005636_abnormal_mineral_homeostasis1.26477892
45MP0008877_abnormal_DNA_methylation1.26440882
46MP0005451_abnormal_body_composition1.25415565
47MP0003252_abnormal_bile_duct1.25192802
48MP0002090_abnormal_vision1.24357047
49MP0005319_abnormal_enzyme/_coenzyme1.22678931
50MP0006292_abnormal_olfactory_placode1.20621258
51MP0008260_abnormal_autophagy1.19697464
52MP0000358_abnormal_cell_content/1.18264493
53MP0005584_abnormal_enzyme/coenzyme_acti1.18087254
54MP0005083_abnormal_biliary_tract1.17276736
55MP0005376_homeostasis/metabolism_phenot1.16597108
56MP0008789_abnormal_olfactory_epithelium1.16562844
57MP0003786_premature_aging1.15178140
58MP0002234_abnormal_pharynx_morphology1.14270571
59MP0008057_abnormal_DNA_replication1.12424364
60MP0000749_muscle_degeneration1.12365983
61MP0003221_abnormal_cardiomyocyte_apopto1.11942768
62MP0001730_embryonic_growth_arrest1.11530395
63MP0000647_abnormal_sebaceous_gland1.11449201
64MP0002638_abnormal_pupillary_reflex1.11382131
65MP0009643_abnormal_urine_homeostasis1.11353174
66MP0002160_abnormal_reproductive_system1.09472713
67MP0001929_abnormal_gametogenesis1.08682455
68MP0006072_abnormal_retinal_apoptosis1.05258540
69MP0005666_abnormal_adipose_tissue1.04353827
70MP0002269_muscular_atrophy1.03895031
71MP0003698_abnormal_male_reproductive1.03194228
72MP0000350_abnormal_cell_proliferation1.02799918
73MP0005330_cardiomyopathy1.01883892
74MP0001697_abnormal_embryo_size0.98886344
75MP0000609_abnormal_liver_physiology0.97930821
76MP0003950_abnormal_plasma_membrane0.96618626
77MP0009840_abnormal_foam_cell0.96159860
78MP0002210_abnormal_sex_determination0.94195587
79MP0003567_abnormal_fetal_cardiomyocyte0.93638750
80MP0003868_abnormal_feces_composition0.93381563
81MP0001346_abnormal_lacrimal_gland0.93234265
82MP0003121_genomic_imprinting0.91404613
83MP0003656_abnormal_erythrocyte_physiolo0.91063903
84MP0004215_abnormal_myocardial_fiber0.90984462
85MP0001756_abnormal_urination0.90270002
86MP0001672_abnormal_embryogenesis/_devel0.89661057
87MP0005380_embryogenesis_phenotype0.89661057
88MP0002080_prenatal_lethality0.87856202
89MP0001881_abnormal_mammary_gland0.87620629
90MP0003011_delayed_dark_adaptation0.87608102
91MP0002971_abnormal_brown_adipose0.86609692
92MP0004142_abnormal_muscle_tone0.85137002
93MP0002233_abnormal_nose_morphology0.84179839
94MP0002736_abnormal_nociception_after0.83973676
95MP0001145_abnormal_male_reproductive0.83816540
96MP0004233_abnormal_muscle_weight0.83601931
97MP0004084_abnormal_cardiac_muscle0.83585152
98MP0003136_yellow_coat_color0.83294491
99MP0005187_abnormal_penis_morphology0.83033551
100MP0001727_abnormal_embryo_implantation0.82416272
101MP0003937_abnormal_limbs/digits/tail_de0.82333255
102MP0003123_paternal_imprinting0.80450120
103MP0002102_abnormal_ear_morphology0.80242865
104MP0004036_abnormal_muscle_relaxation0.80024182
105MP0001986_abnormal_taste_sensitivity0.79384411
106MP0001905_abnormal_dopamine_level0.79070032
107MP0008007_abnormal_cellular_replicative0.78600040
108MP0003315_abnormal_perineum_morphology0.78521248
109MP0002084_abnormal_developmental_patter0.77896984
110MP0002085_abnormal_embryonic_tissue0.77375970
111MP0001542_abnormal_bone_strength0.76915381
112MP0005501_abnormal_skin_physiology0.74609733
113MP0003984_embryonic_growth_retardation0.74502392
114MP0003890_abnormal_embryonic-extraembry0.73881015
115MP0004133_heterotaxia0.73596910
116MP0005394_taste/olfaction_phenotype0.73473401
117MP0005499_abnormal_olfactory_system0.73473401
118MP0009672_abnormal_birth_weight0.73003294
119MP0005535_abnormal_body_temperature0.72584580
120MP0005389_reproductive_system_phenotype0.72084881
121MP0002088_abnormal_embryonic_growth/wei0.71153813
122MP0002697_abnormal_eye_size0.70471474
123MP0005379_endocrine/exocrine_gland_phen0.69566246
124MP0008872_abnormal_physiological_respon0.69262831
125MP0000653_abnormal_sex_gland0.67671052
126MP0003122_maternal_imprinting0.67506919
127MP0002751_abnormal_autonomic_nervous0.67265837
128MP0002078_abnormal_glucose_homeostasis0.66930247
129MP0002332_abnormal_exercise_endurance0.66399685
130MP0000313_abnormal_cell_death0.64777801
131MP0005395_other_phenotype0.64171508
132MP0005367_renal/urinary_system_phenotyp0.62488876
133MP0000516_abnormal_urinary_system0.62488876
134MP0009780_abnormal_chondrocyte_physiolo0.62303054
135MP0000598_abnormal_liver_morphology0.61742674
136MP0002161_abnormal_fertility/fecundity0.60902976
137MP0000372_irregular_coat_pigmentation0.59661201
138MP0000462_abnormal_digestive_system0.57758925
139MP0000750_abnormal_muscle_regeneration0.56936027
140MP0005220_abnormal_exocrine_pancreas0.55340067
141MP0000013_abnormal_adipose_tissue0.54644253
142MP0000566_synostosis0.54102657
143MP0006276_abnormal_autonomic_nervous0.53303385
144MP0008775_abnormal_heart_ventricle0.52760464

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)5.54231897
2Abnormal mitochondria in muscle tissue (HP:0008316)5.20716530
3Acute encephalopathy (HP:0006846)5.11449160
4Hepatic necrosis (HP:0002605)4.72853279
5Increased serum pyruvate (HP:0003542)4.69997349
6Abnormality of glycolysis (HP:0004366)4.69997349
7Mitochondrial inheritance (HP:0001427)4.67984141
8Progressive macrocephaly (HP:0004481)4.54237850
9Increased CSF lactate (HP:0002490)4.49676408
10Hepatocellular necrosis (HP:0001404)4.44880336
11Cerebral edema (HP:0002181)4.44555965
12Decreased activity of mitochondrial respiratory chain (HP:0008972)3.70604692
13Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.70604692
14Lactic acidosis (HP:0003128)3.59780976
15Lipid accumulation in hepatocytes (HP:0006561)3.54530046
16Increased serum lactate (HP:0002151)3.43857562
17Lethargy (HP:0001254)3.40466324
18Hypobetalipoproteinemia (HP:0003563)3.40392412
19Respiratory failure (HP:0002878)3.34982156
20Increased hepatocellular lipid droplets (HP:0006565)3.30841386
21Hyperglycinuria (HP:0003108)3.25417967
22Abnormality of dicarboxylic acid metabolism (HP:0010995)3.23869481
23Dicarboxylic aciduria (HP:0003215)3.23869481
24Hyperglycinemia (HP:0002154)3.23324081
25Exercise intolerance (HP:0003546)3.17929939
26Abnormality of serine family amino acid metabolism (HP:0010894)3.16294992
27Abnormality of glycine metabolism (HP:0010895)3.16294992
28Hypoglycemic coma (HP:0001325)3.11811850
293-Methylglutaconic aciduria (HP:0003535)3.01217519
30Increased muscle lipid content (HP:0009058)3.01083876
31CNS demyelination (HP:0007305)3.00339761
32Abnormality of aromatic amino acid family metabolism (HP:0004338)2.94644038
33Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.93084454
34Leukodystrophy (HP:0002415)2.85577329
35Glycosuria (HP:0003076)2.85535018
36Abnormality of urine glucose concentration (HP:0011016)2.85535018
37Hyperammonemia (HP:0001987)2.84874729
38Increased intramyocellular lipid droplets (HP:0012240)2.84436695
39Abnormality of fatty-acid metabolism (HP:0004359)2.80447679
40Methylmalonic aciduria (HP:0012120)2.70078439
41Abnormality of serum amino acid levels (HP:0003112)2.68468781
42Renal Fanconi syndrome (HP:0001994)2.66225348
43Intrahepatic cholestasis (HP:0001406)2.65702332
44Generalized aminoaciduria (HP:0002909)2.61913324
45Neuroendocrine neoplasm (HP:0100634)2.61405283
46Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.58925275
47Rhabdomyolysis (HP:0003201)2.57035404
48Optic disc pallor (HP:0000543)2.54603009
49Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.53483704
50Abnormality of alanine metabolism (HP:0010916)2.53483704
51Hyperalaninemia (HP:0003348)2.53483704
52Proximal tubulopathy (HP:0000114)2.49193562
53Pheochromocytoma (HP:0002666)2.47945633
54Ketosis (HP:0001946)2.45068930
55Cerebral hypomyelination (HP:0006808)2.42559848
56Nausea (HP:0002018)2.40759926
57Abnormality of monocarboxylic acid metabolism (HP:0010996)2.38913845
58Macrocytic anemia (HP:0001972)2.38521802
59Vomiting (HP:0002013)2.36364180
60Birth length less than 3rd percentile (HP:0003561)2.34420089
61Prolonged partial thromboplastin time (HP:0003645)2.33242417
62Amniotic constriction ring (HP:0009775)2.29594482
63Abnormality of placental membranes (HP:0011409)2.29594482
64Microvesicular hepatic steatosis (HP:0001414)2.27862779
65Ketoacidosis (HP:0001993)2.27618864
66Emotional lability (HP:0000712)2.26525164
67Metabolic acidosis (HP:0001942)2.26481073
68Hypolipoproteinemia (HP:0010981)2.25925621
69Myoglobinuria (HP:0002913)2.25114287
70Abnormality of long-chain fatty-acid metabolism (HP:0010964)2.24740424
71Abnormality of the labia minora (HP:0012880)2.18779827
72Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.17189165
73Abnormal protein N-linked glycosylation (HP:0012347)2.17189165
74Abnormal protein glycosylation (HP:0012346)2.17189165
75Abnormal glycosylation (HP:0012345)2.17189165
76Rough bone trabeculation (HP:0100670)2.14905557
77Abnormality of aspartate family amino acid metabolism (HP:0010899)2.09082473
78Reticulocytopenia (HP:0001896)2.06172303
79Gout (HP:0001997)2.05734732
80Ileus (HP:0002595)2.00275883
81Methylmalonic acidemia (HP:0002912)1.98982616
82Conjugated hyperbilirubinemia (HP:0002908)1.96557885
83Aplasia/Hypoplasia of the sacrum (HP:0008517)1.96119896
84Hypokinesia (HP:0002375)1.95984459
85Opisthotonus (HP:0002179)1.95940997
86X-linked dominant inheritance (HP:0001423)1.95540239
87Abnormality of methionine metabolism (HP:0010901)1.95133851
88Abnormality of sulfur amino acid metabolism (HP:0004339)1.94941486
89Megaloblastic anemia (HP:0001889)1.94842137
90Poor suck (HP:0002033)1.94578071
91Secondary amenorrhea (HP:0000869)1.93608998
92Abnormality of the level of lipoprotein cholesterol (HP:0010979)1.93299487
93Abnormal gallbladder morphology (HP:0012437)1.92896526
94Oral leukoplakia (HP:0002745)1.92480780
95Sparse eyelashes (HP:0000653)1.91831298
96Xanthomatosis (HP:0000991)1.91446194
97Multiple enchondromatosis (HP:0005701)1.91405088
98Abnormality of renal resorption (HP:0011038)1.91042431
99Neoplasm of the adrenal gland (HP:0100631)1.90795974
100Exertional dyspnea (HP:0002875)1.88442230
101Gliosis (HP:0002171)1.88222107
102Meckel diverticulum (HP:0002245)1.87700651
103Abnormality of cells of the erythroid lineage (HP:0012130)1.87589119
104Palpitations (HP:0001962)1.87230789
105Abnormalities of placenta or umbilical cord (HP:0001194)1.86927447
106Abnormality of pyrimidine metabolism (HP:0004353)1.86469213
107Breast hypoplasia (HP:0003187)1.86273928
108Adrenal hypoplasia (HP:0000835)1.85919450
109Hyperphosphaturia (HP:0003109)1.85310044
110Abnormal number of erythroid precursors (HP:0012131)1.84868868
111Respiratory difficulties (HP:0002880)1.84124055
112Spastic paraparesis (HP:0002313)1.84002242
113Hypoplastic pelvis (HP:0008839)1.83895386
114Type I transferrin isoform profile (HP:0003642)1.83736244
115Chromosomal breakage induced by crosslinking agents (HP:0003221)1.81013904
116Hypoplasia of the capital femoral epiphysis (HP:0003090)1.80759772
117Cholelithiasis (HP:0001081)1.80196998
118Degeneration of anterior horn cells (HP:0002398)1.78984942
119Abnormality of the anterior horn cell (HP:0006802)1.78984942
120Delayed CNS myelination (HP:0002188)1.78879750
121Chromsome breakage (HP:0040012)1.77712314
122Cholecystitis (HP:0001082)1.77694614
123Abnormal gallbladder physiology (HP:0012438)1.77694614
124Fat malabsorption (HP:0002630)1.76246822
125Abnormality of the ileum (HP:0001549)1.75126470
126Fibular aplasia (HP:0002990)1.74961970
127Reduced antithrombin III activity (HP:0001976)1.74785303
128Conjunctival hamartoma (HP:0100780)1.73777989
129Postnatal microcephaly (HP:0005484)1.73330154
130Abnormality of the preputium (HP:0100587)1.71325261

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EIF2AK14.13176977
2BUB13.98072327
3STK163.90967936
4VRK23.59802998
5BCKDK3.37511353
6PDK33.15862342
7PDK43.15862342
8WEE12.97370174
9EIF2AK32.88340090
10PBK2.79934345
11TRIM282.34061466
12NME22.22168046
13TESK12.17853469
14NME12.10847280
15SRPK12.04429968
16ACVR1B2.03887475
17NEK12.02128533
18MAP4K22.00042503
19PDK21.97652718
20TLK11.78472397
21CCNB11.70875331
22TESK21.63103751
23VRK11.61510315
24BRSK21.59105314
25LIMK11.53737710
26BCR1.52498273
27PLK41.50351169
28OBSCN1.43099293
29BRAF1.37451458
30STK38L1.36646586
31TSSK61.34097181
32ZAK1.30825582
33TTK1.29540883
34PASK1.22454377
35TAF11.20169677
36CSNK1G11.19905500
37PLK31.17130800
38MST41.15325355
39CSNK1A1L1.15140850
40CDC71.14345162
41IRAK31.12489536
42DYRK31.09851761
43EPHA21.09037338
44STK391.08630520
45CDK191.07748797
46WNK41.06262279
47PLK11.05757262
48ARAF1.05705257
49NUAK11.04422797
50CSNK1G21.03113212
51CASK1.02704998
52MYLK1.01719806
53OXSR11.01219155
54DAPK11.00647319
55DYRK20.97875591
56EIF2AK20.96497763
57BMPR1B0.96380421
58AURKA0.95841573
59ABL20.95005159
60ERBB30.94111695
61PNCK0.92255093
62BRSK10.91746634
63MAP2K70.87984159
64MST1R0.85000783
65PIM20.83088466
66MET0.80886582
67AURKB0.80800640
68AKT30.77751952
69MINK10.69650921
70CSNK2A10.69199275
71MAP3K40.64462516
72CSNK2A20.63666403
73LMTK20.63502235
74RPS6KA40.61949876
75ERBB40.59795049
76WNK30.58871584
77MKNK10.57643362
78PAK10.57580623
79PIK3CG0.57447034
80PINK10.55226709
81KDR0.51767462
82PHKG10.51740962
83PHKG20.51740962
84CHEK20.50319137
85DYRK1B0.50206253
86PRKCI0.49992322
87ATR0.49073117
88MAP3K110.48686952
89CSNK1E0.48363963
90ATM0.47755004
91CDK80.46320584
92PLK20.46111656
93GRK10.45878052
94CAMK2G0.44790975
95MAP3K120.44242449
96NEK20.44150846
97TNIK0.43348101
98PIK3CA0.41711315
99FGFR10.40673326
100PRKCG0.37988610
101CDK140.37385602
102ALK0.36631953
103PAK40.36285132
104TAOK20.35590248
105MUSK0.34904960
106CSNK1A10.33505241
107CAMK2B0.32958183
108ILK0.32839250
109SCYL20.30815755
110CDK70.30473157
111RPS6KB20.30394286
112FRK0.30318897
113AKT20.29732961
114CSNK1G30.28898113
115CDK180.27372619
116CAMK2D0.25660441
117RPS6KA50.25568654
118CDK11A0.24229954
119CDK150.23817738
120STK40.22961735
121DAPK30.22580913
122MKNK20.21713848
123FLT30.21279419
124IRAK10.20441154
125CHEK10.19526623
126MAP3K80.19269576

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030503.72181193
2Oxidative phosphorylation_Homo sapiens_hsa001903.10656553
3Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.92309477
4Parkinsons disease_Homo sapiens_hsa050122.68656881
5Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.31856534
6Propanoate metabolism_Homo sapiens_hsa006402.27063087
7Ribosome_Homo sapiens_hsa030102.10711009
8Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.08329671
9Huntingtons disease_Homo sapiens_hsa050162.07399420
102-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.06423844
11RNA polymerase_Homo sapiens_hsa030202.03006651
12Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.99744366
13Pyruvate metabolism_Homo sapiens_hsa006201.92186114
14Protein export_Homo sapiens_hsa030601.86278850
15DNA replication_Homo sapiens_hsa030301.82103795
16Carbon metabolism_Homo sapiens_hsa012001.81757301
17Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.80571793
18Fatty acid degradation_Homo sapiens_hsa000711.77985729
19Alzheimers disease_Homo sapiens_hsa050101.76418631
20Fatty acid elongation_Homo sapiens_hsa000621.75977915
21Sulfur metabolism_Homo sapiens_hsa009201.75319045
22Folate biosynthesis_Homo sapiens_hsa007901.69810322
23Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.68392306
24Mismatch repair_Homo sapiens_hsa034301.67957858
25Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.63767717
26Pyrimidine metabolism_Homo sapiens_hsa002401.59199921
27Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.53135137
28Selenocompound metabolism_Homo sapiens_hsa004501.52564169
29Butanoate metabolism_Homo sapiens_hsa006501.51955370
30Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.47827521
31Fatty acid metabolism_Homo sapiens_hsa012121.47449993
32Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.43827393
33Peroxisome_Homo sapiens_hsa041461.43003397
34Cysteine and methionine metabolism_Homo sapiens_hsa002701.41219256
35One carbon pool by folate_Homo sapiens_hsa006701.39141629
36Glutathione metabolism_Homo sapiens_hsa004801.38968606
37Vitamin B6 metabolism_Homo sapiens_hsa007501.38604102
38Biosynthesis of amino acids_Homo sapiens_hsa012301.38152677
39Primary bile acid biosynthesis_Homo sapiens_hsa001201.36470318
40Nucleotide excision repair_Homo sapiens_hsa034201.24337247
41Tryptophan metabolism_Homo sapiens_hsa003801.24185340
42Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.24091353
43Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.22673430
44Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.21957332
45Drug metabolism - other enzymes_Homo sapiens_hsa009831.19210308
46Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.15951894
47Spliceosome_Homo sapiens_hsa030401.15287118
48RNA transport_Homo sapiens_hsa030131.14089627
49Homologous recombination_Homo sapiens_hsa034401.11966148
50Histidine metabolism_Homo sapiens_hsa003401.09805730
51Phenylalanine metabolism_Homo sapiens_hsa003601.08829968
52Pentose phosphate pathway_Homo sapiens_hsa000301.05851787
53Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.05603591
54Maturity onset diabetes of the young_Homo sapiens_hsa049501.05442642
55Tyrosine metabolism_Homo sapiens_hsa003501.04833682
56Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.03922053
57PPAR signaling pathway_Homo sapiens_hsa033201.00425710
58Fructose and mannose metabolism_Homo sapiens_hsa000511.00377836
59Fat digestion and absorption_Homo sapiens_hsa049751.00311551
60Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.99068114
61Metabolic pathways_Homo sapiens_hsa011000.98910056
62Arginine and proline metabolism_Homo sapiens_hsa003300.98642957
63beta-Alanine metabolism_Homo sapiens_hsa004100.98073565
64Steroid biosynthesis_Homo sapiens_hsa001000.97393886
65Cardiac muscle contraction_Homo sapiens_hsa042600.96580204
66Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.95761418
67Purine metabolism_Homo sapiens_hsa002300.93679369
68Chemical carcinogenesis_Homo sapiens_hsa052040.90508164
69Pentose and glucuronate interconversions_Homo sapiens_hsa000400.90023778
70Sulfur relay system_Homo sapiens_hsa041220.88000313
71Basal transcription factors_Homo sapiens_hsa030220.85440073
72Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.84567494
73Cyanoamino acid metabolism_Homo sapiens_hsa004600.81201498
74Base excision repair_Homo sapiens_hsa034100.77142237
75Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.71592221
76Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.68491626
77Arginine biosynthesis_Homo sapiens_hsa002200.68244399
78Retinol metabolism_Homo sapiens_hsa008300.66567062
79Steroid hormone biosynthesis_Homo sapiens_hsa001400.63250751
80N-Glycan biosynthesis_Homo sapiens_hsa005100.60994259
81Vitamin digestion and absorption_Homo sapiens_hsa049770.60506051
82Regulation of autophagy_Homo sapiens_hsa041400.57516573
83Linoleic acid metabolism_Homo sapiens_hsa005910.57408032
84Non-homologous end-joining_Homo sapiens_hsa034500.53178027
85Starch and sucrose metabolism_Homo sapiens_hsa005000.52345754
86alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.50698815
87Galactose metabolism_Homo sapiens_hsa000520.50142519
88Cell cycle_Homo sapiens_hsa041100.48864965
89Glycerolipid metabolism_Homo sapiens_hsa005610.48520816
90RNA degradation_Homo sapiens_hsa030180.48226738
91Fanconi anemia pathway_Homo sapiens_hsa034600.47037891
92Arachidonic acid metabolism_Homo sapiens_hsa005900.46437193
93Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.45351146
94Collecting duct acid secretion_Homo sapiens_hsa049660.45051357
95Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.44672733
96Oocyte meiosis_Homo sapiens_hsa041140.44396410
97Vibrio cholerae infection_Homo sapiens_hsa051100.42459471
98Caffeine metabolism_Homo sapiens_hsa002320.37536835
99Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.36481296
100Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.35422993
101Fatty acid biosynthesis_Homo sapiens_hsa000610.34169899
102Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.34112186
103Complement and coagulation cascades_Homo sapiens_hsa046100.33920387
104Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.33077777
105Renin-angiotensin system_Homo sapiens_hsa046140.32236678
106Nitrogen metabolism_Homo sapiens_hsa009100.30228731
107mRNA surveillance pathway_Homo sapiens_hsa030150.30061283
108Mineral absorption_Homo sapiens_hsa049780.25219200
109p53 signaling pathway_Homo sapiens_hsa041150.23704131
110Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.17449917

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