CHCHD4

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: CHCHD4, a component of human mitochondria, belongs to a protein family whose members share 6 highly conserved cysteine residues constituting a -CXC-CX(9)C-CX(9)C- motif in the C terminus (Hofmann et al., 2005 [PubMed 16185709]). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1DNA deamination (GO:0045006)5.58181675
2ribosomal small subunit assembly (GO:0000028)5.23701480
3maturation of SSU-rRNA (GO:0030490)4.98019700
4chaperone-mediated protein transport (GO:0072321)4.83964104
5DNA strand elongation involved in DNA replication (GO:0006271)4.75806296
6telomere maintenance via semi-conservative replication (GO:0032201)4.72288910
7DNA strand elongation (GO:0022616)4.60199391
8proteasome assembly (GO:0043248)4.53253350
9viral transcription (GO:0019083)4.52520608
10ribosomal large subunit biogenesis (GO:0042273)4.51312193
11DNA replication initiation (GO:0006270)4.51162545
12ribosomal small subunit biogenesis (GO:0042274)4.51050543
13nucleobase biosynthetic process (GO:0046112)4.48855733
14translational termination (GO:0006415)4.47142999
15pseudouridine synthesis (GO:0001522)4.44199797
16purine nucleobase biosynthetic process (GO:0009113)4.29479821
17ribonucleoprotein complex biogenesis (GO:0022613)4.29185903
18formation of translation preinitiation complex (GO:0001731)4.28028819
19ribosome biogenesis (GO:0042254)4.19285186
20translational elongation (GO:0006414)4.13254289
21telomere maintenance via recombination (GO:0000722)4.07336686
22SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.96590061
23rRNA modification (GO:0000154)3.95255805
24transcription elongation from RNA polymerase III promoter (GO:0006385)3.93654701
25termination of RNA polymerase III transcription (GO:0006386)3.93654701
26translational initiation (GO:0006413)3.92085764
27DNA replication checkpoint (GO:0000076)3.91353216
28spliceosomal snRNP assembly (GO:0000387)3.88525077
29telomere maintenance via telomere lengthening (GO:0010833)3.88188070
30cotranslational protein targeting to membrane (GO:0006613)3.88102472
31rRNA processing (GO:0006364)3.85793165
32protein targeting to ER (GO:0045047)3.85239135
33mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.82853399
34CENP-A containing nucleosome assembly (GO:0034080)3.82204896
35deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.82186075
36chromatin remodeling at centromere (GO:0031055)3.78928623
37IMP biosynthetic process (GO:0006188)3.77860182
38negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.74584107
39rRNA metabolic process (GO:0016072)3.72618517
40cellular component biogenesis (GO:0044085)3.71792819
41establishment of viral latency (GO:0019043)3.70524174
42translation (GO:0006412)3.69828034
43mitotic recombination (GO:0006312)3.67793729
44protein localization to endoplasmic reticulum (GO:0070972)3.65786967
45respiratory electron transport chain (GO:0022904)3.64590812
46mitotic metaphase plate congression (GO:0007080)3.64533862
47establishment of protein localization to endoplasmic reticulum (GO:0072599)3.64161457
48ribosome assembly (GO:0042255)3.63686890
49ATP synthesis coupled proton transport (GO:0015986)3.62479538
50energy coupled proton transport, down electrochemical gradient (GO:0015985)3.62479538
51* protein targeting to mitochondrion (GO:0006626)3.62081132
52mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.61767800
53establishment of protein localization to mitochondrial membrane (GO:0090151)3.61656045
54DNA unwinding involved in DNA replication (GO:0006268)3.60959304
55regulation of mitochondrial translation (GO:0070129)3.57488671
56nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.56759371
57cellular protein complex disassembly (GO:0043624)3.55654892
58electron transport chain (GO:0022900)3.53292018
59positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.53044916
60transcription from mitochondrial promoter (GO:0006390)3.52795865
61regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.52342649
62respiratory chain complex IV assembly (GO:0008535)3.52235143
63anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.52041301
64folic acid-containing compound biosynthetic process (GO:0009396)3.50985781
65viral life cycle (GO:0019058)3.49189832
66nucleotide-excision repair, DNA gap filling (GO:0006297)3.48854493
67positive regulation of ligase activity (GO:0051351)3.46283717
68cullin deneddylation (GO:0010388)3.46031258
69IMP metabolic process (GO:0046040)3.44361104
70mitochondrial respiratory chain complex assembly (GO:0033108)3.41391847
71negative regulation of ligase activity (GO:0051352)3.40761512
72negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.40761512
73transcription-coupled nucleotide-excision repair (GO:0006283)3.37697564
74L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.33737358
75regulation of cellular amino acid metabolic process (GO:0006521)3.33721148
76exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.33601687
77regulation of ubiquitin-protein transferase activity (GO:0051438)3.33292401
78DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.31367024
79mitochondrial RNA metabolic process (GO:0000959)3.30284130
80protein complex biogenesis (GO:0070271)3.29046848
81* protein localization to mitochondrion (GO:0070585)3.28138054
82* establishment of protein localization to mitochondrion (GO:0072655)3.27001011
83intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.26198046
84signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.26198046
85establishment of integrated proviral latency (GO:0075713)3.25981613
86regulation of ligase activity (GO:0051340)3.25511756
87signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.24899328
88signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.24899328
89signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.24899328
90tRNA aminoacylation for protein translation (GO:0006418)3.24292423
91protein deneddylation (GO:0000338)3.24204915
92DNA replication-independent nucleosome assembly (GO:0006336)3.23434467
93DNA replication-independent nucleosome organization (GO:0034724)3.23434467
94tRNA aminoacylation (GO:0043039)3.21145575
95amino acid activation (GO:0043038)3.21145575
96nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.20888565
97DNA replication-dependent nucleosome assembly (GO:0006335)3.19875208
98DNA replication-dependent nucleosome organization (GO:0034723)3.19875208
99signal transduction involved in DNA integrity checkpoint (GO:0072401)3.19617087
100signal transduction involved in DNA damage checkpoint (GO:0072422)3.19617087
101mitochondrial respiratory chain complex I assembly (GO:0032981)3.19529624
102NADH dehydrogenase complex assembly (GO:0010257)3.19529624
103mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.19529624
104maturation of 5.8S rRNA (GO:0000460)3.18095507
1057-methylguanosine mRNA capping (GO:0006370)3.16128637
106histone exchange (GO:0043486)3.14690025
107signal transduction involved in cell cycle checkpoint (GO:0072395)3.14106254
108viral mRNA export from host cell nucleus (GO:0046784)3.13534695
109protein complex disassembly (GO:0043241)3.12968647
110spliceosomal complex assembly (GO:0000245)3.12640992
111metaphase plate congression (GO:0051310)3.12405611
112rRNA methylation (GO:0031167)3.12111847
1137-methylguanosine RNA capping (GO:0009452)3.11867310
114RNA capping (GO:0036260)3.11867310
115G1/S transition of mitotic cell cycle (GO:0000082)3.11830756
116cell cycle G1/S phase transition (GO:0044843)3.11830756
117cytochrome complex assembly (GO:0017004)3.10953115
118somatic diversification of immune receptors via somatic mutation (GO:0002566)3.10936146
119somatic hypermutation of immunoglobulin genes (GO:0016446)3.10936146
120mitotic sister chromatid segregation (GO:0000070)3.10233488
121DNA damage response, detection of DNA damage (GO:0042769)3.10154366
122positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.08961118
123nucleobase-containing small molecule interconversion (GO:0015949)3.08758084
124DNA catabolic process, exonucleolytic (GO:0000738)3.08598499
125inner mitochondrial membrane organization (GO:0007007)3.08299667
126pteridine-containing compound biosynthetic process (GO:0042559)3.06390310
127oxidative phosphorylation (GO:0006119)3.05717870
128protein localization to kinetochore (GO:0034501)3.05106921

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human6.99639320
2* MYC_18555785_ChIP-Seq_MESCs_Mouse4.77688271
3* EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse4.11930938
4KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.02351134
5JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.61221349
6GABP_17652178_ChIP-ChIP_JURKAT_Human3.59190330
7EST1_17652178_ChIP-ChIP_JURKAT_Human3.51599526
8ETS1_20019798_ChIP-Seq_JURKAT_Human3.37987580
9* MYC_18358816_ChIP-ChIP_MESCs_Mouse3.30287796
10MYC_19079543_ChIP-ChIP_MESCs_Mouse3.21794041
11E2F4_17652178_ChIP-ChIP_JURKAT_Human3.17382925
12* MYC_19030024_ChIP-ChIP_MESCs_Mouse3.12016928
13NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.02819284
14* HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.02288716
15CREB1_15753290_ChIP-ChIP_HEK293T_Human2.91791385
16CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.60706977
17FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.50083220
18VDR_23849224_ChIP-Seq_CD4+_Human2.49505840
19XRN2_22483619_ChIP-Seq_HELA_Human2.43072193
20E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.41883592
21HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.39801974
22SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.36440884
23* E2F1_18555785_ChIP-Seq_MESCs_Mouse2.32301584
24NELFA_20434984_ChIP-Seq_ESCs_Mouse2.31434646
25* DCP1A_22483619_ChIP-Seq_HELA_Human2.24494392
26* THAP11_20581084_ChIP-Seq_MESCs_Mouse2.23082357
27ELF1_17652178_ChIP-ChIP_JURKAT_Human2.22706026
28FOXP3_21729870_ChIP-Seq_TREG_Human2.18461183
29FOXM1_23109430_ChIP-Seq_U2OS_Human2.18313818
30GABP_19822575_ChIP-Seq_HepG2_Human2.08986207
31YY1_21170310_ChIP-Seq_MESCs_Mouse2.06971650
32TTF2_22483619_ChIP-Seq_HELA_Human2.03885323
33CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.96743535
34SRF_21415370_ChIP-Seq_HL-1_Mouse1.93007061
35POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.88816002
36* MYCN_18555785_ChIP-Seq_MESCs_Mouse1.87160921
37PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.87002048
38SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.85605035
39* MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.83841716
40ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.83646055
41MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.82174259
42FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.81560439
43TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.76029619
44NANOG_18555785_ChIP-Seq_MESCs_Mouse1.75964144
45YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.68781670
46ELK1_19687146_ChIP-ChIP_HELA_Human1.67758531
47MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.65085435
48E2F1_21310950_ChIP-Seq_MCF-7_Human1.61248623
49* ZFX_18555785_ChIP-Seq_MESCs_Mouse1.60898041
50FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.55289861
51AR_21909140_ChIP-Seq_LNCAP_Human1.54431418
52HOXB4_20404135_ChIP-ChIP_EML_Mouse1.54423617
53PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.52521274
54CIITA_25753668_ChIP-Seq_RAJI_Human1.47887012
55NOTCH1_21737748_ChIP-Seq_TLL_Human1.47192127
56POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.46115532
57ERG_20887958_ChIP-Seq_HPC-7_Mouse1.43854632
58SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.37575782
59KDM5A_27292631_Chip-Seq_BREAST_Human1.33233601
60STAT3_1855785_ChIP-Seq_MESCs_Mouse1.31857863
61CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.28074294
62POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.25766628
63HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.25667009
64ZNF263_19887448_ChIP-Seq_K562_Human1.24391875
65* ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.23317152
66RBPJ_22232070_ChIP-Seq_NCS_Mouse1.17573760
67BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.17506030
68CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.16775819
69KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.15275358
70MYC_18940864_ChIP-ChIP_HL60_Human1.14558499
71CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.12415729
72PADI4_21655091_ChIP-ChIP_MCF-7_Human1.10899484
73PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.10864353
74ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.09712066
75ELK1_22589737_ChIP-Seq_MCF10A_Human1.07732682
76PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.07318722
77E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.07005596
78* KLF4_18555785_ChIP-Seq_MESCs_Mouse1.05331541
79CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.05276985
80SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.04924479
81DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.04204130
82SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.03768212
83TFEB_21752829_ChIP-Seq_HELA_Human1.02398365
84SOX2_18555785_ChIP-Seq_MESCs_Mouse1.02173946
85* KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.02133261
86GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.02104789
87DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.01532523
88TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.98441598
89MYC_22102868_ChIP-Seq_BL_Human0.94096457
90CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.91993292
91SOX17_20123909_ChIP-Seq_XEN_Mouse0.91816838
92ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.91027909
93TBX5_21415370_ChIP-Seq_HL-1_Mouse0.88136202
94TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.85768816
95SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.85581716
96CTCF_18555785_ChIP-Seq_MESCs_Mouse0.83914797
97KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.83483483
98* SPI1_23547873_ChIP-Seq_NB4_Human0.83050648
99* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.81454821
100OCT4_18692474_ChIP-Seq_MEFs_Mouse0.81104412
101NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.80854206
102SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.80818661
103NACC1_18358816_ChIP-ChIP_MESCs_Mouse0.80075949
104* TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.79131148
105* FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.77953330
106ELF5_23300383_ChIP-Seq_T47D_Human0.77353208
107* SOX2_18692474_ChIP-Seq_MEFs_Mouse0.75325006
108IRF1_19129219_ChIP-ChIP_H3396_Human0.74280290
109ESR1_15608294_ChIP-ChIP_MCF-7_Human0.74264162
110SRY_22984422_ChIP-ChIP_TESTIS_Rat0.74170809
111NANOG_16153702_ChIP-ChIP_HESCs_Human0.73805781
112HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.73364277
113CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.72724726
114CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.72681718
115CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.72661032

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching5.73702574
2MP0004957_abnormal_blastocyst_morpholog4.85334721
3MP0010094_abnormal_chromosome_stability4.63917904
4MP0003111_abnormal_nucleus_morphology4.34392190
5MP0008057_abnormal_DNA_replication4.02602281
6MP0008058_abnormal_DNA_repair3.84680035
7MP0003077_abnormal_cell_cycle3.79682980
8MP0003806_abnormal_nucleotide_metabolis2.93527449
9MP0008932_abnormal_embryonic_tissue2.89589084
10MP0003123_paternal_imprinting2.88030602
11MP0009379_abnormal_foot_pigmentation2.72394268
12MP0002396_abnormal_hematopoietic_system2.53058809
13MP0008007_abnormal_cellular_replicative2.50232758
14MP0006036_abnormal_mitochondrial_physio2.30200724
15MP0009697_abnormal_copulation2.24646554
16MP0003786_premature_aging2.22584220
17MP0006035_abnormal_mitochondrial_morpho2.17723741
18MP0008877_abnormal_DNA_methylation2.04478309
19MP0003186_abnormal_redox_activity1.97755696
20MP0001730_embryonic_growth_arrest1.96656550
21MP0003941_abnormal_skin_development1.95129805
22MP0000490_abnormal_crypts_of1.93824969
23MP0000350_abnormal_cell_proliferation1.90712754
24MP0006292_abnormal_olfactory_placode1.75894070
25MP0003718_maternal_effect1.75362884
26MP0005075_abnormal_melanosome_morpholog1.64866503
27MP0005408_hypopigmentation1.59280824
28MP0000358_abnormal_cell_content/1.55506060
29MP0001188_hyperpigmentation1.49767962
30MP0000313_abnormal_cell_death1.49519455
31MP0004133_heterotaxia1.48691669
32MP0008995_early_reproductive_senescence1.45833048
33MP0001697_abnormal_embryo_size1.44823957
34MP0002080_prenatal_lethality1.43786822
35MP0005451_abnormal_body_composition1.42469898
36MP0003646_muscle_fatigue1.39578753
37MP0003221_abnormal_cardiomyocyte_apopto1.39047369
38MP0004233_abnormal_muscle_weight1.36106690
39MP0005380_embryogenesis_phenotype1.33698667
40MP0001672_abnormal_embryogenesis/_devel1.33698667
41MP0002019_abnormal_tumor_incidence1.32978259
42MP0005266_abnormal_metabolism1.31801734
43MP0001986_abnormal_taste_sensitivity1.30954695
44MP0009333_abnormal_splenocyte_physiolog1.29317933
45MP0005174_abnormal_tail_pigmentation1.29090591
46MP0009672_abnormal_birth_weight1.27637054
47MP0002132_abnormal_respiratory_system1.27327962
48MP0003567_abnormal_fetal_cardiomyocyte1.26592415
49MP0003315_abnormal_perineum_morphology1.24586045
50MP0002210_abnormal_sex_determination1.21629957
51MP0003984_embryonic_growth_retardation1.20455173
52MP0001529_abnormal_vocalization1.20338852
53MP0003121_genomic_imprinting1.17485164
54MP0002160_abnormal_reproductive_system1.17379628
55MP0004147_increased_porphyrin_level1.16345402
56MP0002088_abnormal_embryonic_growth/wei1.15804724
57MP0001145_abnormal_male_reproductive1.10827229
58MP0002085_abnormal_embryonic_tissue1.07912580
59MP0001661_extended_life_span1.06916765
60MP0004808_abnormal_hematopoietic_stem1.05948760
61MP0008260_abnormal_autophagy1.04586877
62MP0002877_abnormal_melanocyte_morpholog1.03330570
63MP0001764_abnormal_homeostasis1.01377770
64MP0001853_heart_inflammation0.97833026
65MP0001545_abnormal_hematopoietic_system0.97460597
66MP0005397_hematopoietic_system_phenotyp0.97460597
67MP0002095_abnormal_skin_pigmentation0.96386472
68MP0001929_abnormal_gametogenesis0.91391683
69MP0002102_abnormal_ear_morphology0.91272589
70MP0000653_abnormal_sex_gland0.88345285
71MP0002084_abnormal_developmental_patter0.88054777
72MP0005389_reproductive_system_phenotype0.88024213
73MP0000689_abnormal_spleen_morphology0.87627542
74MP0002086_abnormal_extraembryonic_tissu0.87612471
75MP0002722_abnormal_immune_system0.86124126
76MP0003890_abnormal_embryonic-extraembry0.86100651
77MP0001293_anophthalmia0.85993743
78MP0005332_abnormal_amino_acid0.85918993
79MP0002796_impaired_skin_barrier0.85839999
80MP0010352_gastrointestinal_tract_polyps0.85135059
81MP0000703_abnormal_thymus_morphology0.82079957
82MP0002163_abnormal_gland_morphology0.81847732
83MP0002398_abnormal_bone_marrow0.81517314
84MP0005501_abnormal_skin_physiology0.80433645
85MP0000015_abnormal_ear_pigmentation0.79766746
86MP0002090_abnormal_vision0.76778548
87MP0004084_abnormal_cardiac_muscle0.76630406
88MP0005384_cellular_phenotype0.75343259
89MP0004197_abnormal_fetal_growth/weight/0.74727305
90MP0002429_abnormal_blood_cell0.72628254
91MP0001881_abnormal_mammary_gland0.71791785
92MP0010307_abnormal_tumor_latency0.71533690
93MP0005395_other_phenotype0.70832812
94MP0005636_abnormal_mineral_homeostasis0.70269167
95MP0000749_muscle_degeneration0.70224082
96MP0001119_abnormal_female_reproductive0.69647383
97MP0003763_abnormal_thymus_physiology0.69288687
98MP0001727_abnormal_embryo_implantation0.69235768
99MP0002269_muscular_atrophy0.69093511
100MP0002751_abnormal_autonomic_nervous0.67797011
101MP0004215_abnormal_myocardial_fiber0.67340250
102MP0002075_abnormal_coat/hair_pigmentati0.66781887
103MP0000372_irregular_coat_pigmentation0.65949446
104MP0005376_homeostasis/metabolism_phenot0.64698184
105MP0000750_abnormal_muscle_regeneration0.64562336
106MP0002653_abnormal_ependyma_morphology0.63985560
107MP0004142_abnormal_muscle_tone0.63795075
108MP0008873_increased_physiological_sensi0.63792677
109MP0002938_white_spotting0.61850082
110MP0005330_cardiomyopathy0.61545415
111MP0002837_dystrophic_cardiac_calcinosis0.61459990
112MP0001905_abnormal_dopamine_level0.61036474
113MP0005319_abnormal_enzyme/_coenzyme0.60879354
114MP0008875_abnormal_xenobiotic_pharmacok0.60401943
115MP0001919_abnormal_reproductive_system0.59877443
116MP0003656_abnormal_erythrocyte_physiolo0.58409065
117MP0003119_abnormal_digestive_system0.57748057
118MP0001186_pigmentation_phenotype0.57683800
119MP0000678_abnormal_parathyroid_gland0.56427776
120MP0002161_abnormal_fertility/fecundity0.53738976
121MP0004145_abnormal_muscle_electrophysio0.53299165
122MP0000747_muscle_weakness0.52880073
123MP0000858_altered_metastatic_potential0.52236063
124MP0003866_abnormal_defecation0.51825992
125MP0003698_abnormal_male_reproductive0.51394269
126MP0005670_abnormal_white_adipose0.51336824
127MP0004185_abnormal_adipocyte_glucose0.50139296
128MP0006072_abnormal_retinal_apoptosis0.49353972

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of cells of the erythroid lineage (HP:0012130)5.15264844
2Abnormal number of erythroid precursors (HP:0012131)5.09132020
3Reticulocytopenia (HP:0001896)4.56486227
4Birth length less than 3rd percentile (HP:0003561)4.56416559
5Hepatocellular necrosis (HP:0001404)4.27013562
6Acute necrotizing encephalopathy (HP:0006965)4.16267725
7Decreased activity of mitochondrial respiratory chain (HP:0008972)4.03506773
8Abnormal activity of mitochondrial respiratory chain (HP:0011922)4.03506773
9Mitochondrial inheritance (HP:0001427)4.01951867
10Abnormal mitochondria in muscle tissue (HP:0008316)4.01526734
11Increased CSF lactate (HP:0002490)3.92202368
12Hepatic necrosis (HP:0002605)3.80816510
13Oral leukoplakia (HP:0002745)3.78585604
14Aplastic anemia (HP:0001915)3.71250279
15Increased serum lactate (HP:0002151)3.65603605
16Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)3.43387870
17Rough bone trabeculation (HP:0100670)3.40416433
18Acute encephalopathy (HP:0006846)3.37813536
19Cerebral hypomyelination (HP:0006808)3.33787361
20Macrocytic anemia (HP:0001972)3.29194260
21Breast hypoplasia (HP:0003187)3.25488585
22Microvesicular hepatic steatosis (HP:0001414)3.18911887
23Muscle abnormality related to mitochondrial dysfunction (HP:0003800)3.17493450
24Progressive macrocephaly (HP:0004481)3.15585683
25Pallor (HP:0000980)3.13948668
26Increased hepatocellular lipid droplets (HP:0006565)3.13171197
27Type I transferrin isoform profile (HP:0003642)3.11146562
28Exercise intolerance (HP:0003546)3.04545138
29Abnormality of the preputium (HP:0100587)2.94760007
303-Methylglutaconic aciduria (HP:0003535)2.94061211
31Carpal bone hypoplasia (HP:0001498)2.92307230
32Abnormality of the anterior horn cell (HP:0006802)2.91620702
33Degeneration of anterior horn cells (HP:0002398)2.91620702
34Lactic acidosis (HP:0003128)2.89094511
35Aplasia/Hypoplasia of the sacrum (HP:0008517)2.86349996
36Colon cancer (HP:0003003)2.86043395
37Abnormality of methionine metabolism (HP:0010901)2.84301630
38Lipid accumulation in hepatocytes (HP:0006561)2.79971258
39Chromsome breakage (HP:0040012)2.77759668
40Abnormality of alanine metabolism (HP:0010916)2.75900439
41Hyperalaninemia (HP:0003348)2.75900439
42Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.75900439
43Leukodystrophy (HP:0002415)2.75104527
44Increased intramyocellular lipid droplets (HP:0012240)2.72658290
45Absent thumb (HP:0009777)2.71781534
46Premature graying of hair (HP:0002216)2.71297587
47Meckel diverticulum (HP:0002245)2.71191426
48Respiratory failure (HP:0002878)2.65949131
49Abnormality of glycolysis (HP:0004366)2.65640780
50Increased serum pyruvate (HP:0003542)2.65640780
51Microretrognathia (HP:0000308)2.65263019
52Abnormality of chromosome stability (HP:0003220)2.64099343
53Abnormality of the ileum (HP:0001549)2.62482058
54Chromosomal breakage induced by crosslinking agents (HP:0003221)2.62423393
55Multiple enchondromatosis (HP:0005701)2.61553096
56Pancytopenia (HP:0001876)2.58502034
57Lethargy (HP:0001254)2.55419756
58Bone marrow hypocellularity (HP:0005528)2.51679028
59Progressive muscle weakness (HP:0003323)2.51404297
60Exertional dyspnea (HP:0002875)2.51189345
61Abnormal trabecular bone morphology (HP:0100671)2.49993991
62Emotional lability (HP:0000712)2.48190832
63Respiratory difficulties (HP:0002880)2.40050545
64Cerebral edema (HP:0002181)2.38877056
65Aplasia/Hypoplasia of the uvula (HP:0010293)2.37259062
66Selective tooth agenesis (HP:0001592)2.36840016
67Abnormality of serum amino acid levels (HP:0003112)2.35896409
68Progressive external ophthalmoplegia (HP:0000590)2.35724332
6911 pairs of ribs (HP:0000878)2.33564572
70Agnosia (HP:0010524)2.32613807
71CNS demyelination (HP:0007305)2.32096476
72Ragged-red muscle fibers (HP:0003200)2.31258091
73Ependymoma (HP:0002888)2.31170500
74Increased muscle lipid content (HP:0009058)2.30060933
75Myelodysplasia (HP:0002863)2.26219084
76Reduced antithrombin III activity (HP:0001976)2.24278309
77Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.21226494
78Patellar aplasia (HP:0006443)2.19256869
79Cellular immunodeficiency (HP:0005374)2.19136855
80Trismus (HP:0000211)2.18826232
81CNS hypomyelination (HP:0003429)2.13699990
82Abnormal protein glycosylation (HP:0012346)2.09747284
83Abnormal glycosylation (HP:0012345)2.09747284
84Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.09747284
85Abnormal protein N-linked glycosylation (HP:0012347)2.09747284
86Renal Fanconi syndrome (HP:0001994)2.09673842
87Sensory axonal neuropathy (HP:0003390)2.09491246
88Premature ovarian failure (HP:0008209)2.06178184
89Neoplasm of the adrenal gland (HP:0100631)2.06039659
90Abnormality of the heme biosynthetic pathway (HP:0010472)2.05784049
91Aplasia/Hypoplasia of the patella (HP:0006498)2.05409177
92Abnormality of aspartate family amino acid metabolism (HP:0010899)2.04158180
93Abnormality of placental membranes (HP:0011409)2.03123824
94Amniotic constriction ring (HP:0009775)2.03123824
95Neoplasm of the pancreas (HP:0002894)2.02315052
96Triphalangeal thumb (HP:0001199)2.01742811
97Horseshoe kidney (HP:0000085)2.01632114
98Optic disc pallor (HP:0000543)2.00703987
99Sparse eyelashes (HP:0000653)2.00438393
100Small intestinal stenosis (HP:0012848)1.99179625
101Duodenal stenosis (HP:0100867)1.99179625
102Irregular epiphyses (HP:0010582)1.98093053
103Palpitations (HP:0001962)1.97659471
104Methylmalonic aciduria (HP:0012120)1.96312147
105Medulloblastoma (HP:0002885)1.96277152
106Megaloblastic anemia (HP:0001889)1.94131903
107Supernumerary spleens (HP:0009799)1.93041686
108Atrophy/Degeneration involving motor neurons (HP:0007373)1.92786649
109Secondary amenorrhea (HP:0000869)1.92724059
110Tracheoesophageal fistula (HP:0002575)1.91040472
111Methylmalonic acidemia (HP:0002912)1.89865149
112Glossoptosis (HP:0000162)1.89627058
113Duplicated collecting system (HP:0000081)1.89149281
114Unsteady gait (HP:0002317)1.88639471
115Hypoplasia of the pons (HP:0012110)1.88580288
116Abnormality of the labia minora (HP:0012880)1.86028967
117Cholecystitis (HP:0001082)1.85541829
118Abnormal gallbladder physiology (HP:0012438)1.85541829
119Testicular atrophy (HP:0000029)1.83566196
120Abnormal lung lobation (HP:0002101)1.80349054
121X-linked dominant inheritance (HP:0001423)1.80067452
122Dicarboxylic aciduria (HP:0003215)1.78422241
123Abnormality of dicarboxylic acid metabolism (HP:0010995)1.78422241
124Hypoglycemic coma (HP:0001325)1.75969734
125Rhabdomyolysis (HP:0003201)1.73243096

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB14.45559279
2WEE14.41824618
3STK164.26243174
4VRK24.05434222
5EIF2AK13.77058082
6PBK3.76014109
7NME23.34720756
8CDC72.93446923
9EIF2AK32.75357171
10SRPK12.48613803
11VRK12.42389154
12TSSK62.37244760
13TLK12.34186156
14BRSK22.19642550
15PDK22.17960355
16NEK12.05645971
17ACVR1B1.79068627
18TTK1.78760057
19NME11.78344530
20PLK41.71350309
21PLK11.67071859
22PIM21.66073350
23PASK1.65028956
24NEK21.60979619
25DYRK31.54136613
26TRIM281.53243162
27MKNK11.41872765
28CDK71.34738693
29CCNB11.32707826
30MAP3K111.32697397
31RPS6KB21.30289523
32SCYL21.29163170
33AURKB1.26228882
34ATR1.25406953
35BCKDK1.24574704
36BRSK11.22521927
37AURKA1.21915407
38TESK21.20266064
39PLK31.19678733
40NUAK11.18232275
41MKNK21.17558125
42ZAK1.16886540
43TAF11.15615347
44FLT31.13878707
45BRAF1.07532158
46CHEK21.00573170
47ALK0.97898512
48IRAK30.97447527
49EIF2AK20.95370307
50EPHA20.88942875
51MAP3K120.87496511
52MAP2K30.85210568
53CDK40.83406319
54PAK40.82950087
55TEC0.82006801
56RPS6KA40.81439465
57MAP3K80.81147829
58ARAF0.80726209
59MST40.76926581
60CDK190.76079985
61CSNK2A20.75396857
62CSNK2A10.75231788
63TGFBR10.74574950
64MAPKAPK30.74545313
65DAPK10.73490027
66CHEK10.71760462
67PNCK0.70089244
68TAOK20.68247166
69CSNK1G30.68104957
70CDK80.65541146
71PDK40.64871725
72PDK30.64871725
73PRKCI0.63997317
74MST1R0.63929726
75KDR0.60658018
76TESK10.59856259
77STK100.58504938
78IRAK40.58390057
79PIM10.57358170
80CSNK1G10.55516020
81PAK10.54084238
82STK40.51080769
83ADRBK20.50716923
84CDK20.50511064
85ABL20.50393757
86BMPR1B0.48738710
87ATM0.48571542
88OBSCN0.48251999
89SMG10.46561862
90CSNK1A1L0.45644930
91CSNK1G20.45606487
92CLK10.45293442
93ERBB30.44311045
94PHKG20.43825737
95PHKG10.43825737
96MAP4K10.43810207
97PINK10.43283143
98KIT0.43038148
99RAF10.42211760
100STK38L0.41252659
101MAP2K60.41143273
102STK30.39243977
103CSNK1E0.39027217
104ERBB40.38980343
105TNIK0.38366307
106AKT30.37273267
107MYLK0.35769722
108CAMKK20.35297786
109RPS6KA50.34956597
110MAP3K30.34274278
111DYRK20.33343145
112DMPK0.33276290
113MUSK0.31812051
114BLK0.31086584
115LIMK10.29588244
116CDK10.28478638
117LRRK20.27848943
118ZAP700.27350578
119STK240.27284485
120BTK0.27050390
121YES10.26949783
122AKT20.25578381
123ILK0.25577319
124MAPKAPK50.25543770
125MATK0.25204998
126PRKDC0.22227127
127OXSR10.21642952
128PLK20.20559258
129DAPK30.18736064

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030304.81307329
2Ribosome_Homo sapiens_hsa030104.49779546
3Proteasome_Homo sapiens_hsa030504.19645497
4Mismatch repair_Homo sapiens_hsa034304.07019262
5RNA polymerase_Homo sapiens_hsa030203.82593165
6Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.61157213
7Homologous recombination_Homo sapiens_hsa034402.95216680
8Spliceosome_Homo sapiens_hsa030402.93077800
9Pyrimidine metabolism_Homo sapiens_hsa002402.88766800
10Base excision repair_Homo sapiens_hsa034102.73998551
11Nucleotide excision repair_Homo sapiens_hsa034202.72265377
12RNA transport_Homo sapiens_hsa030132.65693911
13Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.40609026
14Parkinsons disease_Homo sapiens_hsa050122.33920317
15One carbon pool by folate_Homo sapiens_hsa006702.31573173
16Oxidative phosphorylation_Homo sapiens_hsa001902.30625841
17Fanconi anemia pathway_Homo sapiens_hsa034602.01658954
18Cell cycle_Homo sapiens_hsa041101.87395784
19Huntingtons disease_Homo sapiens_hsa050161.84680878
20RNA degradation_Homo sapiens_hsa030181.74939675
21Basal transcription factors_Homo sapiens_hsa030221.68676114
22Purine metabolism_Homo sapiens_hsa002301.67134318
23Protein export_Homo sapiens_hsa030601.55981936
24Non-homologous end-joining_Homo sapiens_hsa034501.55204842
25Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.50216302
26Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.41996272
27Fatty acid elongation_Homo sapiens_hsa000621.31802413
28Alzheimers disease_Homo sapiens_hsa050101.28164432
29Folate biosynthesis_Homo sapiens_hsa007901.23611724
30Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.19302596
31Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.15991038
32Cysteine and methionine metabolism_Homo sapiens_hsa002701.15154789
33Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.12993443
342-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.08520350
35mRNA surveillance pathway_Homo sapiens_hsa030151.06649355
36Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.03166248
37Epstein-Barr virus infection_Homo sapiens_hsa051691.01880831
38p53 signaling pathway_Homo sapiens_hsa041150.99965479
39Biosynthesis of amino acids_Homo sapiens_hsa012300.98006698
40Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.97966537
41Pentose phosphate pathway_Homo sapiens_hsa000300.94676610
42Sulfur metabolism_Homo sapiens_hsa009200.94512909
43Sulfur relay system_Homo sapiens_hsa041220.92266765
44Carbon metabolism_Homo sapiens_hsa012000.86203459
45Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.85694370
46Steroid biosynthesis_Homo sapiens_hsa001000.81078825
47Cyanoamino acid metabolism_Homo sapiens_hsa004600.77604356
48Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.76995279
49Systemic lupus erythematosus_Homo sapiens_hsa053220.75752942
50Drug metabolism - other enzymes_Homo sapiens_hsa009830.75114363
51Cardiac muscle contraction_Homo sapiens_hsa042600.70092470
52Glutathione metabolism_Homo sapiens_hsa004800.68657650
53Fructose and mannose metabolism_Homo sapiens_hsa000510.65552299
54Galactose metabolism_Homo sapiens_hsa000520.61635640
55Peroxisome_Homo sapiens_hsa041460.60405655
56Oocyte meiosis_Homo sapiens_hsa041140.59534643
57Fatty acid metabolism_Homo sapiens_hsa012120.59476339
58Metabolic pathways_Homo sapiens_hsa011000.58197420
59Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.54802523
60Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.53940781
61N-Glycan biosynthesis_Homo sapiens_hsa005100.53363515
62Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.49310295
63Antigen processing and presentation_Homo sapiens_hsa046120.48206215
64Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.47903246
65Selenocompound metabolism_Homo sapiens_hsa004500.46521076
66Herpes simplex infection_Homo sapiens_hsa051680.46446854
67Fatty acid degradation_Homo sapiens_hsa000710.46199525
68Butanoate metabolism_Homo sapiens_hsa006500.45480775
69Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.40992418
70Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.40087673
71Pentose and glucuronate interconversions_Homo sapiens_hsa000400.39629588
72Viral carcinogenesis_Homo sapiens_hsa052030.37621477
73Thyroid cancer_Homo sapiens_hsa052160.37523255
74Legionellosis_Homo sapiens_hsa051340.36256055
75Vitamin B6 metabolism_Homo sapiens_hsa007500.36050771
76Alcoholism_Homo sapiens_hsa050340.35063611
77Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.35039293
78Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.35009055
79Arginine biosynthesis_Homo sapiens_hsa002200.34033792
80Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.32610487
81Pyruvate metabolism_Homo sapiens_hsa006200.29833232
82Arginine and proline metabolism_Homo sapiens_hsa003300.28451552
83Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.26919024
84Arachidonic acid metabolism_Homo sapiens_hsa005900.23900289
85HTLV-I infection_Homo sapiens_hsa051660.23817493
86Tryptophan metabolism_Homo sapiens_hsa003800.21643298
87Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.20448218
88Regulation of autophagy_Homo sapiens_hsa041400.20289995
89Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.19754662
90Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.19232340
91Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.17966589
92Primary bile acid biosynthesis_Homo sapiens_hsa001200.16939495
93Type I diabetes mellitus_Homo sapiens_hsa049400.14764738
94Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.14105284
95Other glycan degradation_Homo sapiens_hsa005110.14013336
96SNARE interactions in vesicular transport_Homo sapiens_hsa041300.09381312
97HIF-1 signaling pathway_Homo sapiens_hsa040660.08150092
98RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.07988039
99Vitamin digestion and absorption_Homo sapiens_hsa049770.06859527
100Primary immunodeficiency_Homo sapiens_hsa053400.06030787
101Vibrio cholerae infection_Homo sapiens_hsa051100.05465580
102Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.04710563
103Hematopoietic cell lineage_Homo sapiens_hsa046400.03623053
104Renin-angiotensin system_Homo sapiens_hsa046140.03318501
105Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.03267666
106Chemical carcinogenesis_Homo sapiens_hsa052040.02929119
107Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.02283843
108Starch and sucrose metabolism_Homo sapiens_hsa005000.01294786
109Caffeine metabolism_Homo sapiens_hsa002320.00847427
110Apoptosis_Homo sapiens_hsa042100.00828172
111Transcriptional misregulation in cancer_Homo sapiens_hsa052020.00527239
112Propanoate metabolism_Homo sapiens_hsa006400.00080300
113beta-Alanine metabolism_Homo sapiens_hsa00410-0.0598455
114Measles_Homo sapiens_hsa05162-0.0578927
115Asthma_Homo sapiens_hsa05310-0.0542405
116Collecting duct acid secretion_Homo sapiens_hsa04966-0.0482093
117Linoleic acid metabolism_Homo sapiens_hsa00591-0.0331554
118Tyrosine metabolism_Homo sapiens_hsa00350-0.0296416
119Shigellosis_Homo sapiens_hsa05131-0.0282721
120Fat digestion and absorption_Homo sapiens_hsa04975-0.0202146
121Phenylalanine metabolism_Homo sapiens_hsa00360-0.0101496
122NOD-like receptor signaling pathway_Homo sapiens_hsa04621-0.0080091
123Drug metabolism - cytochrome P450_Homo sapiens_hsa00982-0.0071398

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