PARK7

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





Description: The product of this gene belongs to the peptidase C56 family of proteins. It acts as a positive regulator of androgen receptor-dependent transcription. It may also function as a redox-sensitive chaperone, as a sensor for oxidative stress, and it apparently protects neurons against oxidative stress and cell death. Defects in this gene are the cause of autosomal recessive early-onset Parkinson disease 7. Two transcript variants encoding the same protein have been identified for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1mitochondrial ATP synthesis coupled proton transport (GO:0042776)7.00825012
2ATP synthesis coupled proton transport (GO:0015986)6.49922153
3energy coupled proton transport, down electrochemical gradient (GO:0015985)6.49922153
4ribosomal small subunit assembly (GO:0000028)5.66103962
5mitochondrial electron transport, NADH to ubiquinone (GO:0006120)5.43046860
6respiratory electron transport chain (GO:0022904)5.13027821
7electron transport chain (GO:0022900)5.02375878
8viral transcription (GO:0019083)4.94940050
9ribosomal small subunit biogenesis (GO:0042274)4.91552656
10translational termination (GO:0006415)4.81418368
11oxidative phosphorylation (GO:0006119)4.63075143
12NADH dehydrogenase complex assembly (GO:0010257)4.61615163
13mitochondrial respiratory chain complex I biogenesis (GO:0097031)4.61615163
14mitochondrial respiratory chain complex I assembly (GO:0032981)4.61615163
15SRP-dependent cotranslational protein targeting to membrane (GO:0006614)4.60490417
16proteasome assembly (GO:0043248)4.59988271
17cotranslational protein targeting to membrane (GO:0006613)4.58725120
18DNA deamination (GO:0045006)4.53775564
19protein targeting to ER (GO:0045047)4.51349602
20protein complex biogenesis (GO:0070271)4.49215150
21cullin deneddylation (GO:0010388)4.40372566
22translational elongation (GO:0006414)4.39064968
23protein localization to endoplasmic reticulum (GO:0070972)4.33814047
24maturation of SSU-rRNA (GO:0030490)4.31750950
25mitochondrial respiratory chain complex assembly (GO:0033108)4.29260967
26establishment of protein localization to endoplasmic reticulum (GO:0072599)4.26712550
27protein deneddylation (GO:0000338)4.15624786
28rRNA modification (GO:0000154)4.13743396
29chaperone-mediated protein transport (GO:0072321)4.07315343
30negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)4.05788031
31establishment of integrated proviral latency (GO:0075713)4.02200624
32regulation of mitochondrial translation (GO:0070129)4.00371353
33establishment of protein localization to mitochondrial membrane (GO:0090151)3.95953944
34translation (GO:0006412)3.90960070
35positive regulation of ligase activity (GO:0051351)3.87328430
36L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.86307017
37cellular protein complex disassembly (GO:0043624)3.86098367
38* regulation of cellular amino acid metabolic process (GO:0006521)3.85545551
39viral life cycle (GO:0019058)3.84192391
40translational initiation (GO:0006413)3.80584196
41ribosomal large subunit biogenesis (GO:0042273)3.73567832
42protein neddylation (GO:0045116)3.71860287
43DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.71083570
44positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.68404229
45ATP biosynthetic process (GO:0006754)3.66399764
46respiratory chain complex IV assembly (GO:0008535)3.66093318
47intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.63958321
48signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.63958321
49telomere maintenance via semi-conservative replication (GO:0032201)3.63462567
50purine nucleoside triphosphate biosynthetic process (GO:0009145)3.61915987
51transcription elongation from RNA polymerase III promoter (GO:0006385)3.61864083
52termination of RNA polymerase III transcription (GO:0006386)3.61864083
53* negative regulation of ligase activity (GO:0051352)3.61832237
54* negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.61832237
55purine ribonucleoside triphosphate biosynthetic process (GO:0009206)3.61555655
56signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.60989581
57signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.60989581
58signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.60989581
59nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.59493827
60regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.58355523
61inner mitochondrial membrane organization (GO:0007007)3.56837346
62antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:3.55616524
63DNA strand elongation involved in DNA replication (GO:0006271)3.55182505
64* regulation of ubiquitin-protein transferase activity (GO:0051438)3.54360913
65signal transduction involved in DNA integrity checkpoint (GO:0072401)3.52429358
66signal transduction involved in DNA damage checkpoint (GO:0072422)3.52429358
67cellular component biogenesis (GO:0044085)3.51337532
68formation of translation preinitiation complex (GO:0001731)3.47721325
69signal transduction involved in cell cycle checkpoint (GO:0072395)3.47611524
70protein maturation by protein folding (GO:0022417)3.46646430
71deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.46209424
72nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.45565205
73anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.45336807
74GTP biosynthetic process (GO:0006183)3.44601274
75establishment of protein localization to mitochondrion (GO:0072655)3.44098101
76protein targeting to mitochondrion (GO:0006626)3.43867704
77ribonucleoprotein complex biogenesis (GO:0022613)3.43752338
78* regulation of ligase activity (GO:0051340)3.42327269
79hydrogen ion transmembrane transport (GO:1902600)3.41984064
80pseudouridine synthesis (GO:0001522)3.40364916
81DNA strand elongation (GO:0022616)3.40345541
82exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.40087670
837-methylguanosine mRNA capping (GO:0006370)3.39228424
84ribonucleoside triphosphate biosynthetic process (GO:0009201)3.38483635
85aerobic respiration (GO:0009060)3.36425009
86establishment of viral latency (GO:0019043)3.35098022
87mitochondrial transport (GO:0006839)3.34210501
887-methylguanosine RNA capping (GO:0009452)3.34125923
89RNA capping (GO:0036260)3.34125923
90purine nucleobase biosynthetic process (GO:0009113)3.31072287
91spliceosomal snRNP assembly (GO:0000387)3.30291142
92protein complex disassembly (GO:0043241)3.29968013
93* regulation of cellular amine metabolic process (GO:0033238)3.28977344
94CENP-A containing nucleosome assembly (GO:0034080)3.28429133
95L-methionine salvage (GO:0071267)3.27274766
96L-methionine biosynthetic process (GO:0071265)3.27274766
97amino acid salvage (GO:0043102)3.27274766
98rRNA methylation (GO:0031167)3.24166508
99chromatin remodeling at centromere (GO:0031055)3.24139251
100iron-sulfur cluster assembly (GO:0016226)3.24022803
101metallo-sulfur cluster assembly (GO:0031163)3.24022803
102antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)3.22774052
103positive regulation of cell cycle arrest (GO:0071158)3.22052304
104guanosine-containing compound biosynthetic process (GO:1901070)3.21139613
105macromolecular complex disassembly (GO:0032984)3.20080175
106DNA damage response, signal transduction by p53 class mediator (GO:0030330)3.18231324
107peptidyl-histidine modification (GO:0018202)3.17109226
108UTP biosynthetic process (GO:0006228)3.16387947
109nucleobase biosynthetic process (GO:0046112)3.15789455
110cytochrome complex assembly (GO:0017004)3.15630239
111protein localization to mitochondrion (GO:0070585)3.15557147
112tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.15392321
113RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.15392321
114rRNA processing (GO:0006364)3.12966235
115nucleoside triphosphate biosynthetic process (GO:0009142)3.11573016
116positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.10959803
117purine ribonucleoside monophosphate biosynthetic process (GO:0009168)3.09920378
118purine nucleoside monophosphate biosynthetic process (GO:0009127)3.09920378
119maturation of 5.8S rRNA (GO:0000460)3.05649866
120transcription-coupled nucleotide-excision repair (GO:0006283)3.05292334
121* negative regulation of protein ubiquitination (GO:0031397)3.04985618

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.73760917
2MYC_18555785_ChIP-Seq_MESCs_Mouse4.33921287
3* EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse4.24811980
4GABP_17652178_ChIP-ChIP_JURKAT_Human4.14579704
5EST1_17652178_ChIP-ChIP_JURKAT_Human4.14347508
6* JARID1A_20064375_ChIP-Seq_MESCs_Mouse4.08298456
7NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.83850331
8E2F7_22180533_ChIP-Seq_HELA_Human3.80215601
9ETS1_20019798_ChIP-Seq_JURKAT_Human3.63312965
10SOX9_22984422_ChIP-ChIP_TESTIS_Rat3.62433814
11HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.57799837
12CREB1_15753290_ChIP-ChIP_HEK293T_Human3.32093408
13* MYC_18358816_ChIP-ChIP_MESCs_Mouse3.18498825
14HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.99305074
15* CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.88345493
16ELF1_17652178_ChIP-ChIP_JURKAT_Human2.88280170
17* MYC_19030024_ChIP-ChIP_MESCs_Mouse2.78029241
18CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.72511681
19E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.71315783
20MYC_19079543_ChIP-ChIP_MESCs_Mouse2.67740681
21THAP11_20581084_ChIP-Seq_MESCs_Mouse2.62182791
22SRF_21415370_ChIP-Seq_HL-1_Mouse2.57443423
23PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.55983954
24* VDR_23849224_ChIP-Seq_CD4+_Human2.49515189
25* E2F1_18555785_ChIP-Seq_MESCs_Mouse2.42778328
26* XRN2_22483619_ChIP-Seq_HELA_Human2.39034994
27DCP1A_22483619_ChIP-Seq_HELA_Human2.36538162
28YY1_21170310_ChIP-Seq_MESCs_Mouse2.33780098
29* FOXP3_21729870_ChIP-Seq_TREG_Human2.25372186
30NELFA_20434984_ChIP-Seq_ESCs_Mouse2.09597659
31* GABP_19822575_ChIP-Seq_HepG2_Human2.08203759
32ZFP42_18358816_ChIP-ChIP_MESCs_Mouse2.04280062
33E2F4_17652178_ChIP-ChIP_JURKAT_Human2.01440882
34* TTF2_22483619_ChIP-Seq_HELA_Human1.95809622
35FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.83342714
36FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.79473692
37ELK1_19687146_ChIP-ChIP_HELA_Human1.79150457
38POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.71509616
39* PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.70440858
40SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.70326756
41HOXB4_20404135_ChIP-ChIP_EML_Mouse1.67909805
42CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.66104609
43TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.65699874
44FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.63115946
45YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.60209940
46CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.58866825
47CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.55097651
48MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.52004405
49BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.48544357
50ZFX_18555785_ChIP-Seq_MESCs_Mouse1.46270778
51ERG_20887958_ChIP-Seq_HPC-7_Mouse1.45511905
52NANOG_18555785_ChIP-Seq_MESCs_Mouse1.43484335
53CIITA_25753668_ChIP-Seq_RAJI_Human1.37633781
54* MYCN_18555785_ChIP-Seq_MESCs_Mouse1.37156955
55MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.35364023
56ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.34147782
57MYC_18940864_ChIP-ChIP_HL60_Human1.29721855
58CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.29097945
59ELK1_22589737_ChIP-Seq_MCF10A_Human1.28557781
60POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.27806354
61ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.23764649
62MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.21477101
63HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.21421641
64DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.21071517
65PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.19719646
66* CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human1.19385758
67TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.18974388
68* PADI4_21655091_ChIP-ChIP_MCF-7_Human1.14442572
69IRF1_19129219_ChIP-ChIP_H3396_Human1.11534835
70ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.10133424
71CTCF_18555785_ChIP-Seq_MESCs_Mouse1.08573059
72SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.07480796
73STAT3_1855785_ChIP-Seq_MESCs_Mouse1.06891599
74FOXM1_23109430_ChIP-Seq_U2OS_Human1.05229402
75SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.05074309
76* KDM5A_27292631_Chip-Seq_BREAST_Human1.02333972
77RBPJ_22232070_ChIP-Seq_NCS_Mouse0.99912912
78AR_21909140_ChIP-Seq_LNCAP_Human0.98447059
79HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.97671991
80KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.93692401
81HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.91911987
82SOX2_18555785_ChIP-Seq_MESCs_Mouse0.91165480
83E2F1_21310950_ChIP-Seq_MCF-7_Human0.89045509
84GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.88151989
85FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.87776513
86CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.87081761
87NANOG_16153702_ChIP-ChIP_HESCs_Human0.86042535
88YY1_22570637_ChIP-Seq_MALME-3M_Human0.85688143
89SRY_22984422_ChIP-ChIP_TESTIS_Rat0.85290212
90* POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.84981573
91OCT4_18692474_ChIP-Seq_MEFs_Mouse0.82556963
92EGR1_23403033_ChIP-Seq_LIVER_Mouse0.82129746
93* E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.79644057
94TBX5_21415370_ChIP-Seq_HL-1_Mouse0.78726209
95SOX17_20123909_ChIP-Seq_XEN_Mouse0.76928384
96SOX2_18692474_ChIP-Seq_MEFs_Mouse0.76445358
97NOTCH1_21737748_ChIP-Seq_TLL_Human0.75772366
98SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.74990659
99* FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.74746618
100EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.74200591
101PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse0.73884587
102TFEB_21752829_ChIP-Seq_HELA_Human0.71672898
103EWS_26573619_Chip-Seq_HEK293_Human0.71546968
104FOXP1_21924763_ChIP-Seq_HESCs_Human0.71456007
105* HTT_18923047_ChIP-ChIP_STHdh_Human0.70759708
106SOX2_16153702_ChIP-ChIP_HESCs_Human0.70088129
107* SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.68266090
108* KDM5B_21448134_ChIP-Seq_MESCs_Mouse0.67571985
109CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.67422281
110VDR_22108803_ChIP-Seq_LS180_Human0.66723167
111ELF5_23300383_ChIP-Seq_T47D_Human0.65920624
112TP53_22573176_ChIP-Seq_HFKS_Human0.64775183

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003806_abnormal_nucleotide_metabolis5.22518635
2MP0009379_abnormal_foot_pigmentation4.25847387
3* MP0006036_abnormal_mitochondrial_physio3.60380538
4MP0003693_abnormal_embryo_hatching3.22376383
5MP0004957_abnormal_blastocyst_morpholog2.94458300
6MP0001529_abnormal_vocalization2.91374646
7MP0003186_abnormal_redox_activity2.83668549
8MP0006035_abnormal_mitochondrial_morpho2.80236483
9MP0002139_abnormal_hepatobiliary_system2.59449032
10MP0002837_dystrophic_cardiac_calcinosis2.41935603
11MP0008058_abnormal_DNA_repair2.36263191
12MP0001764_abnormal_homeostasis2.35869440
13MP0010094_abnormal_chromosome_stability2.25050526
14MP0004147_increased_porphyrin_level2.19781195
15MP0003646_muscle_fatigue2.11143284
16MP0000749_muscle_degeneration2.07879807
17MP0008057_abnormal_DNA_replication1.99772809
18MP0005085_abnormal_gallbladder_physiolo1.90423592
19MP0008932_abnormal_embryonic_tissue1.90035549
20MP0009697_abnormal_copulation1.87555157
21MP0003077_abnormal_cell_cycle1.87059893
22MP0005266_abnormal_metabolism1.79160789
23MP0005360_urolithiasis1.78562589
24MP0002102_abnormal_ear_morphology1.71791984
25MP0008875_abnormal_xenobiotic_pharmacok1.71524480
26MP0006276_abnormal_autonomic_nervous1.68791980
27MP0002876_abnormal_thyroid_physiology1.66849080
28MP0003111_abnormal_nucleus_morphology1.66242223
29MP0003786_premature_aging1.64354212
30MP0004145_abnormal_muscle_electrophysio1.64127088
31MP0002822_catalepsy1.62928164
32MP0002638_abnormal_pupillary_reflex1.60310181
33* MP0001905_abnormal_dopamine_level1.59668965
34MP0005075_abnormal_melanosome_morpholog1.59386911
35MP0003941_abnormal_skin_development1.58510203
36MP0005636_abnormal_mineral_homeostasis1.57046748
37MP0003656_abnormal_erythrocyte_physiolo1.56908881
38MP0001986_abnormal_taste_sensitivity1.56885023
39MP0005332_abnormal_amino_acid1.56389119
40MP0004043_abnormal_pH_regulation1.49849136
41MP0004142_abnormal_muscle_tone1.46902368
42MP0003718_maternal_effect1.45409621
43MP0008789_abnormal_olfactory_epithelium1.43873584
44MP0006292_abnormal_olfactory_placode1.42636077
45MP0003195_calcinosis1.39755895
46MP0000372_irregular_coat_pigmentation1.36741628
47MP0003136_yellow_coat_color1.34511682
48MP0008007_abnormal_cellular_replicative1.29987609
49MP0000358_abnormal_cell_content/1.29586133
50MP0005645_abnormal_hypothalamus_physiol1.29341299
51MP0005365_abnormal_bile_salt1.29003275
52MP0001188_hyperpigmentation1.28003422
53MP0005376_homeostasis/metabolism_phenot1.25159493
54MP0004036_abnormal_muscle_relaxation1.22486870
55MP0000751_myopathy1.14813647
56MP0003123_paternal_imprinting1.14655566
57MP0004133_heterotaxia1.14532931
58MP0001968_abnormal_touch/_nociception1.12982117
59MP0001984_abnormal_olfaction1.12542173
60MP0002132_abnormal_respiratory_system1.11894653
61MP0008995_early_reproductive_senescence1.11523941
62MP0005083_abnormal_biliary_tract1.10948595
63MP0002210_abnormal_sex_determination1.09544673
64MP0002090_abnormal_vision1.08779276
65MP0005584_abnormal_enzyme/coenzyme_acti1.05021174
66MP0009046_muscle_twitch1.04725116
67MP0002269_muscular_atrophy1.02363982
68MP0000747_muscle_weakness1.02059627
69MP0005379_endocrine/exocrine_gland_phen1.02041840
70MP0003011_delayed_dark_adaptation1.01768551
71MP0008877_abnormal_DNA_methylation1.01168656
72MP0002396_abnormal_hematopoietic_system1.00059444
73MP0010030_abnormal_orbit_morphology0.99989812
74MP0005408_hypopigmentation0.99896592
75MP0000350_abnormal_cell_proliferation0.99796390
76MP0005253_abnormal_eye_physiology0.97628060
77MP0005319_abnormal_enzyme/_coenzyme0.96844462
78MP0002163_abnormal_gland_morphology0.96339795
79MP0002736_abnormal_nociception_after0.96017581
80MP0002938_white_spotting0.94830969
81MP0001929_abnormal_gametogenesis0.94004188
82MP0002332_abnormal_exercise_endurance0.90556768
83MP0009643_abnormal_urine_homeostasis0.88298131
84MP0001293_anophthalmia0.88062913
85MP0002106_abnormal_muscle_physiology0.86760064
86MP0005646_abnormal_pituitary_gland0.86620676
87MP0001727_abnormal_embryo_implantation0.85860320
88MP0002160_abnormal_reproductive_system0.85120909
89MP0001145_abnormal_male_reproductive0.85017364
90MP0000653_abnormal_sex_gland0.84445290
91MP0000566_synostosis0.83664700
92MP0010386_abnormal_urinary_bladder0.82894645
93MP0001881_abnormal_mammary_gland0.82849344
94MP0000678_abnormal_parathyroid_gland0.82727512
95MP0003567_abnormal_fetal_cardiomyocyte0.81887741
96MP0002277_abnormal_respiratory_mucosa0.81591540
97MP0001730_embryonic_growth_arrest0.80530241
98MP0000750_abnormal_muscle_regeneration0.79000458
99MP0005551_abnormal_eye_electrophysiolog0.77871901
100MP0001919_abnormal_reproductive_system0.77452731
101MP0003137_abnormal_impulse_conducting0.77071500
102MP0002751_abnormal_autonomic_nervous0.76175745
103MP0001485_abnormal_pinna_reflex0.76083166
104MP0005330_cardiomyopathy0.75606620
105MP0004215_abnormal_myocardial_fiber0.75592606
106MP0005394_taste/olfaction_phenotype0.74467183
107MP0005499_abnormal_olfactory_system0.74467183
108MP0005410_abnormal_fertilization0.73372874
109MP0001697_abnormal_embryo_size0.73123054
110MP0000313_abnormal_cell_death0.73045413
111MP0003315_abnormal_perineum_morphology0.72522386
112MP0002735_abnormal_chemical_nociception0.72154854
113* MP0008872_abnormal_physiological_respon0.69369206
114MP0002234_abnormal_pharynx_morphology0.68962737
115MP0006072_abnormal_retinal_apoptosis0.68941405
116MP0005369_muscle_phenotype0.66534293
117MP0003880_abnormal_central_pattern0.66374310
118MP0002080_prenatal_lethality0.66228081
119MP0005084_abnormal_gallbladder_morpholo0.65377431
120MP0005174_abnormal_tail_pigmentation0.64670949
121MP0005171_absent_coat_pigmentation0.64008883
122MP0005409_darkened_coat_color0.62948197
123MP0005389_reproductive_system_phenotype0.62114374
124MP0009333_abnormal_splenocyte_physiolog0.61925060
125MP0003221_abnormal_cardiomyocyte_apopto0.60002824
126MP0003122_maternal_imprinting0.59787530
127MP0001853_heart_inflammation0.59680668
128MP0000759_abnormal_skeletal_muscle0.59262385
129MP0001756_abnormal_urination0.58457433
130MP0003698_abnormal_male_reproductive0.58177710
131MP0001119_abnormal_female_reproductive0.57883493
132MP0004084_abnormal_cardiac_muscle0.57609608
133* MP0002272_abnormal_nervous_system0.56513143
134MP0002095_abnormal_skin_pigmentation0.54971635
135* MP0008873_increased_physiological_sensi0.54876388
136MP0005535_abnormal_body_temperature0.54475796
137MP0002019_abnormal_tumor_incidence0.54026514

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)6.45114668
2Abnormal mitochondria in muscle tissue (HP:0008316)6.12060617
3Mitochondrial inheritance (HP:0001427)5.91472687
4Hepatocellular necrosis (HP:0001404)5.76559226
5Acute encephalopathy (HP:0006846)5.68844124
6Hepatic necrosis (HP:0002605)5.43202908
7Increased CSF lactate (HP:0002490)5.41110121
8Progressive macrocephaly (HP:0004481)5.20484825
9Abnormal activity of mitochondrial respiratory chain (HP:0011922)4.48183093
10Decreased activity of mitochondrial respiratory chain (HP:0008972)4.48183093
11Abnormality of cells of the erythroid lineage (HP:0012130)4.37892324
12Cerebral edema (HP:0002181)4.33227361
13Increased hepatocellular lipid droplets (HP:0006565)4.20263141
14Abnormal number of erythroid precursors (HP:0012131)4.17441213
15Abnormality of glycolysis (HP:0004366)4.12434240
16Increased serum pyruvate (HP:0003542)4.12434240
17Increased serum lactate (HP:0002151)4.08281048
18Lipid accumulation in hepatocytes (HP:0006561)4.03116498
19Lactic acidosis (HP:0003128)4.00540341
20Exercise intolerance (HP:0003546)3.81932306
21Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)3.77005246
22Increased intramyocellular lipid droplets (HP:0012240)3.75426822
233-Methylglutaconic aciduria (HP:0003535)3.74239488
24Respiratory failure (HP:0002878)3.67850224
25Renal Fanconi syndrome (HP:0001994)3.66390998
26Muscle abnormality related to mitochondrial dysfunction (HP:0003800)3.46187398
27Increased muscle lipid content (HP:0009058)3.42290243
28Reticulocytopenia (HP:0001896)3.36952102
29Leukodystrophy (HP:0002415)3.17323375
30Macrocytic anemia (HP:0001972)3.06583480
31Optic disc pallor (HP:0000543)3.00846141
32CNS demyelination (HP:0007305)2.98869051
33Lethargy (HP:0001254)2.89083875
34Respiratory difficulties (HP:0002880)2.85614860
35Exertional dyspnea (HP:0002875)2.81849613
36Aplastic anemia (HP:0001915)2.80032561
37Microvesicular hepatic steatosis (HP:0001414)2.76362017
38Emotional lability (HP:0000712)2.76318233
39Degeneration of anterior horn cells (HP:0002398)2.60675036
40Abnormality of the anterior horn cell (HP:0006802)2.60675036
41Methylmalonic acidemia (HP:0002912)2.53652988
42Oral leukoplakia (HP:0002745)2.53139349
43Abnormality of aromatic amino acid family metabolism (HP:0004338)2.48738801
44Cerebral hypomyelination (HP:0006808)2.48229747
45Glycosuria (HP:0003076)2.42574709
46Abnormality of urine glucose concentration (HP:0011016)2.42574709
47Abnormality of methionine metabolism (HP:0010901)2.39994499
48Generalized aminoaciduria (HP:0002909)2.37647214
49Abnormality of the heme biosynthetic pathway (HP:0010472)2.36857751
50Type I transferrin isoform profile (HP:0003642)2.36643932
51Abnormality of renal resorption (HP:0011038)2.36524031
52Abnormality of dicarboxylic acid metabolism (HP:0010995)2.34981346
53Dicarboxylic aciduria (HP:0003215)2.34981346
54Pallor (HP:0000980)2.33018073
55Abnormality of placental membranes (HP:0011409)2.31154589
56Amniotic constriction ring (HP:0009775)2.31154589
57Hyperphosphaturia (HP:0003109)2.28955940
58Hypobetalipoproteinemia (HP:0003563)2.28203393
59Rhabdomyolysis (HP:0003201)2.23697596
60Hypothermia (HP:0002045)2.23387878
61Birth length less than 3rd percentile (HP:0003561)2.22299886
62Abnormality of serum amino acid levels (HP:0003112)2.20436310
63Methylmalonic aciduria (HP:0012120)2.19716555
64Ragged-red muscle fibers (HP:0003200)2.18578294
65Testicular atrophy (HP:0000029)2.15439843
66Neuroendocrine neoplasm (HP:0100634)2.13852550
67Vomiting (HP:0002013)2.04546567
68Abnormality of alanine metabolism (HP:0010916)2.03317376
69Hyperalaninemia (HP:0003348)2.03317376
70Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.03317376
71Myoglobinuria (HP:0002913)2.02528736
72Abnormality of aspartate family amino acid metabolism (HP:0010899)2.01812452
73Congenital, generalized hypertrichosis (HP:0004540)2.01528218
74Aplasia/Hypoplasia of the sacrum (HP:0008517)2.01057725
75Pancytopenia (HP:0001876)2.00646359
76Abnormality of the labia minora (HP:0012880)2.00239160
77Gliosis (HP:0002171)1.99589777
78Hyperglycinemia (HP:0002154)1.95152694
79Multiple enchondromatosis (HP:0005701)1.93585438
80Unsteady gait (HP:0002317)1.93085698
81Hypoglycemic coma (HP:0001325)1.92993497
82Pheochromocytoma (HP:0002666)1.91287090
83Cholecystitis (HP:0001082)1.89679630
84Abnormal gallbladder physiology (HP:0012438)1.89679630
85Colon cancer (HP:0003003)1.83789273
86Abnormality of fatty-acid metabolism (HP:0004359)1.83481584
87Palpitations (HP:0001962)1.82703667
88Meckel diverticulum (HP:0002245)1.81155819
89Metabolic acidosis (HP:0001942)1.81153114
90X-linked dominant inheritance (HP:0001423)1.80615913
91Megaloblastic anemia (HP:0001889)1.80160267
92Abnormal pupillary function (HP:0007686)1.78294761
93Sparse eyelashes (HP:0000653)1.78045916
94CNS hypomyelination (HP:0003429)1.77548626
95Aplasia/hypoplasia of the uterus (HP:0008684)1.77530668
96Proximal tubulopathy (HP:0000114)1.76465317
97Delayed CNS myelination (HP:0002188)1.75243220
98Abnormality of pyrimidine metabolism (HP:0004353)1.73954628
99Delusions (HP:0000746)1.73009319
100Nausea (HP:0002018)1.72890923
101Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.71956885
102Abnormal protein N-linked glycosylation (HP:0012347)1.71956885
103Abnormal protein glycosylation (HP:0012346)1.71956885
104Abnormal glycosylation (HP:0012345)1.71956885
105Blindness (HP:0000618)1.71867922
106Abnormal urine phosphate concentration (HP:0012599)1.71028052
107Abnormality of the ileum (HP:0001549)1.70960571
108Poor suck (HP:0002033)1.70154986
109Nemaline bodies (HP:0003798)1.68322808
110Neoplasm of the adrenal gland (HP:0100631)1.67544656
111Progressive external ophthalmoplegia (HP:0000590)1.67050546
112Renal tubular dysfunction (HP:0000124)1.67026764
113Reduced antithrombin III activity (HP:0001976)1.66536945
114Muscle hypertrophy of the lower extremities (HP:0008968)1.66236134
115Progressive muscle weakness (HP:0003323)1.65623843
116Congenital nonbullous ichthyosiform erythroderma (HP:0007479)1.65508184
117Hyperammonemia (HP:0001987)1.64995926
118Muscle fiber inclusion bodies (HP:0100299)1.64557842
119Rough bone trabeculation (HP:0100670)1.64185597
120Neoplasm of head and neck (HP:0012288)1.62835285
121Esophageal neoplasm (HP:0100751)1.62835285
122Breast hypoplasia (HP:0003187)1.62779977
123Abnormality of the preputium (HP:0100587)1.62490854
124Hypoplasia of the pons (HP:0012110)1.61489807
125Pancreatic fibrosis (HP:0100732)1.60019380
126Abnormality of the pons (HP:0007361)1.58029983
127Aplasia/Hypoplasia of the uvula (HP:0010293)1.57998526
128Abnormality of midbrain morphology (HP:0002418)1.57869494
129Molar tooth sign on MRI (HP:0002419)1.57869494
130Progressive microcephaly (HP:0000253)1.55730311

Predicted kinase interactions (KEA)

RankGene SetZ-score
1VRK24.91315902
2STK164.34297378
3BUB14.04830800
4EIF2AK13.36626664
5NME23.12929390
6NME13.04607779
7BCKDK2.86003619
8WEE12.75907139
9NEK12.72828943
10MAP3K122.60156247
11VRK12.57475322
12EIF2AK32.47908478
13TSSK62.28032406
14SRPK12.25784042
15MYLK2.04051265
16OBSCN1.95085452
17TLK11.74579991
18CDC71.64561658
19TESK21.56512458
20PIM21.52662733
21NUAK11.46174169
22TRIM281.40638420
23ACVR1B1.39967377
24BRSK21.38751995
25CCNB11.36092433
26PASK1.31902544
27CDK81.25844874
28CDK191.25753503
29DAPK11.22990348
30KDR1.17040322
31MAP4K21.15990804
32PIK3CG1.15319948
33LIMK11.13169816
34MST41.11670661
35AURKA1.10643908
36BRAF1.08983352
37RPS6KB21.08336904
38TAF11.05840605
39MUSK1.03440841
40ADRBK21.03359282
41PLK41.01986708
42MAPKAPK30.99482636
43MAP3K110.99395208
44FLT30.96782165
45PDK40.96444476
46PDK30.96444476
47PLK20.95742272
48PLK10.95363779
49ARAF0.95036178
50MKNK10.95015228
51BRSK10.94729544
52ZAK0.94003589
53PBK0.92925957
54CSNK1G10.91910364
55CSNK1G20.86975337
56GRK70.82458415
57PLK30.81880452
58CSNK2A20.81093823
59CASK0.80794743
60TESK10.79660406
61AURKB0.79625512
62MAPKAPK50.78980646
63ILK0.78319355
64CSNK2A10.77105028
65CSNK1A1L0.76207246
66OXSR10.75504828
67PINK10.74672842
68GRK10.73413049
69GRK50.70947320
70BMPR1B0.69517020
71CHEK20.69482528
72ABL20.67751134
73TTK0.67705977
74CDK70.67577374
75ATR0.65026677
76DYRK20.64321122
77TGFBR10.63231648
78MAP2K70.62490707
79CSNK1G30.62094879
80SCYL20.61503492
81PAK40.60495164
82MAP2K60.59767571
83WNK30.59344616
84DAPK30.58886926
85TNIK0.58320683
86BCR0.58110071
87GRK60.58006107
88DYRK30.57233585
89MAP2K30.55068094
90EIF2AK20.53388344
91WNK40.50743190
92STK40.49541080
93MINK10.49473020
94ALK0.47877233
95PDK20.47223172
96PRKCI0.46247008
97ADRBK10.45387512
98PRKCG0.43384079
99CLK10.42108217
100TEC0.42006587
101PAK10.41152724
102MAPK40.39904652
103CAMK2G0.39879437
104CAMK2B0.39816610
105ATM0.39230477
106UHMK10.36908894
107CDK140.36155540
108CHEK10.36104783
109ERBB30.35396487
110MKNK20.35387877
111CSNK1E0.34843300
112MAP3K30.34670668
113LRRK20.34649058
114BTK0.33621724
115RPS6KA50.33235642
116PNCK0.32071192
117PHKG10.31795336
118PHKG20.31795336
119CSNK1A10.31311168
120SIK30.29954447
121RPS6KC10.29604767
122RPS6KL10.29604767
123CAMK2D0.29479019
124CDK180.28159787
125CDK11A0.27565267
126TXK0.27454576
127RPS6KA60.26201660
128SYK0.26191908

Predicted pathways (KEGG)

RankGene SetZ-score
1Ribosome_Homo sapiens_hsa030104.25029081
2Oxidative phosphorylation_Homo sapiens_hsa001904.23648010
3Proteasome_Homo sapiens_hsa030504.10712980
4Parkinsons disease_Homo sapiens_hsa050123.73693186
5DNA replication_Homo sapiens_hsa030302.98024186
6RNA polymerase_Homo sapiens_hsa030202.81045279
7Huntingtons disease_Homo sapiens_hsa050162.67179796
8Mismatch repair_Homo sapiens_hsa034302.66328390
9Alzheimers disease_Homo sapiens_hsa050102.57075173
10Protein export_Homo sapiens_hsa030602.49132393
11Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.34936442
12Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.25362470
13Pyrimidine metabolism_Homo sapiens_hsa002402.13543920
14Spliceosome_Homo sapiens_hsa030401.92672130
15Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.84855915
16Nucleotide excision repair_Homo sapiens_hsa034201.84150965
17Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.83079161
18Homologous recombination_Homo sapiens_hsa034401.67187111
192-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.64327815
20Pyruvate metabolism_Homo sapiens_hsa006201.62129629
21Base excision repair_Homo sapiens_hsa034101.58857587
22Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.54680758
23Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.53577501
24One carbon pool by folate_Homo sapiens_hsa006701.46312358
25Cardiac muscle contraction_Homo sapiens_hsa042601.39052386
26Carbon metabolism_Homo sapiens_hsa012001.37782754
27Cysteine and methionine metabolism_Homo sapiens_hsa002701.32845651
28Propanoate metabolism_Homo sapiens_hsa006401.31424142
29Fatty acid elongation_Homo sapiens_hsa000621.30907652
30RNA transport_Homo sapiens_hsa030131.29353306
31Folate biosynthesis_Homo sapiens_hsa007901.28660111
32Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.22876382
33Biosynthesis of amino acids_Homo sapiens_hsa012301.22591993
34Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.21784010
35Purine metabolism_Homo sapiens_hsa002301.20668369
36Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.18625955
37Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.14524669
38Sulfur relay system_Homo sapiens_hsa041221.12777434
39Drug metabolism - other enzymes_Homo sapiens_hsa009831.08027315
40RNA degradation_Homo sapiens_hsa030181.05151250
41Non-homologous end-joining_Homo sapiens_hsa034501.03798095
42Glutathione metabolism_Homo sapiens_hsa004801.00784546
43Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.00224173
44Phenylalanine metabolism_Homo sapiens_hsa003600.97801178
45Basal transcription factors_Homo sapiens_hsa030220.97640246
46Cyanoamino acid metabolism_Homo sapiens_hsa004600.95920731
47Pentose phosphate pathway_Homo sapiens_hsa000300.95463541
48Metabolic pathways_Homo sapiens_hsa011000.95420738
49Tyrosine metabolism_Homo sapiens_hsa003500.94830315
50Sulfur metabolism_Homo sapiens_hsa009200.94717644
51Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.94167569
52Peroxisome_Homo sapiens_hsa041460.93317846
53Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.86521343
54Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.83243008
55Collecting duct acid secretion_Homo sapiens_hsa049660.81795429
56Arginine and proline metabolism_Homo sapiens_hsa003300.81467474
57Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.79142229
58Fanconi anemia pathway_Homo sapiens_hsa034600.78387006
59Butanoate metabolism_Homo sapiens_hsa006500.78329281
60Primary bile acid biosynthesis_Homo sapiens_hsa001200.76335047
61Fructose and mannose metabolism_Homo sapiens_hsa000510.75115277
62Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.72296944
63Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.72141653
64Fatty acid degradation_Homo sapiens_hsa000710.70521281
65Pentose and glucuronate interconversions_Homo sapiens_hsa000400.69243085
66Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.68346705
67Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.66717355
68Histidine metabolism_Homo sapiens_hsa003400.66435409
69Tryptophan metabolism_Homo sapiens_hsa003800.65570410
70beta-Alanine metabolism_Homo sapiens_hsa004100.62107574
71Cell cycle_Homo sapiens_hsa041100.61737306
72Maturity onset diabetes of the young_Homo sapiens_hsa049500.61278822
73Selenocompound metabolism_Homo sapiens_hsa004500.60513221
74Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.58277792
75Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.56847526
76Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.56433220
77Vibrio cholerae infection_Homo sapiens_hsa051100.54609913
78Galactose metabolism_Homo sapiens_hsa000520.52720510
79Chemical carcinogenesis_Homo sapiens_hsa052040.51364254
80Fatty acid metabolism_Homo sapiens_hsa012120.44978722
81Oocyte meiosis_Homo sapiens_hsa041140.43907962
82Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.43093996
83Nitrogen metabolism_Homo sapiens_hsa009100.38421272
84Arachidonic acid metabolism_Homo sapiens_hsa005900.37467111
85N-Glycan biosynthesis_Homo sapiens_hsa005100.35083496
86Epstein-Barr virus infection_Homo sapiens_hsa051690.35011630
87Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.34661079
88Starch and sucrose metabolism_Homo sapiens_hsa005000.33722978
89Phototransduction_Homo sapiens_hsa047440.33148951
90SNARE interactions in vesicular transport_Homo sapiens_hsa041300.32941691
91Systemic lupus erythematosus_Homo sapiens_hsa053220.31533935
92Steroid biosynthesis_Homo sapiens_hsa001000.31473048
93p53 signaling pathway_Homo sapiens_hsa041150.29681385
94Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.28744168
95Caffeine metabolism_Homo sapiens_hsa002320.27146181
96Steroid hormone biosynthesis_Homo sapiens_hsa001400.24709976
97Retinol metabolism_Homo sapiens_hsa008300.23929583
98Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.23388677
99mRNA surveillance pathway_Homo sapiens_hsa030150.22919365
100Regulation of autophagy_Homo sapiens_hsa041400.22915618
101Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.18224004
102Vitamin B6 metabolism_Homo sapiens_hsa007500.17620085
103Linoleic acid metabolism_Homo sapiens_hsa005910.15911546
104Synaptic vesicle cycle_Homo sapiens_hsa047210.15388430
105Arginine biosynthesis_Homo sapiens_hsa002200.15272062
106Primary immunodeficiency_Homo sapiens_hsa053400.15258749
107Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.14511156
108Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.13373558
109Asthma_Homo sapiens_hsa053100.11257542
110Antigen processing and presentation_Homo sapiens_hsa046120.10465461
111Rheumatoid arthritis_Homo sapiens_hsa053230.09959654
112Other glycan degradation_Homo sapiens_hsa005110.09647026

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