C1ORF53

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: No gene information available 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)5.59524510
2ATP synthesis coupled proton transport (GO:0015986)4.90791420
3energy coupled proton transport, down electrochemical gradient (GO:0015985)4.90791420
4mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.86337868
5protein complex biogenesis (GO:0070271)4.67854479
6mitochondrial respiratory chain complex assembly (GO:0033108)4.51166290
7mitochondrial respiratory chain complex I biogenesis (GO:0097031)4.50974732
8mitochondrial respiratory chain complex I assembly (GO:0032981)4.50974732
9NADH dehydrogenase complex assembly (GO:0010257)4.50974732
10respiratory electron transport chain (GO:0022904)4.45268731
11electron transport chain (GO:0022900)4.40256178
12ribosomal small subunit biogenesis (GO:0042274)4.32861292
13chaperone-mediated protein transport (GO:0072321)4.30524325
14cullin deneddylation (GO:0010388)4.18053784
15establishment of protein localization to mitochondrial membrane (GO:0090151)3.98329365
16respiratory chain complex IV assembly (GO:0008535)3.95243814
17regulation of mitochondrial translation (GO:0070129)3.95191152
18protein deneddylation (GO:0000338)3.85496625
19glyoxylate metabolic process (GO:0046487)3.85132501
20protein maturation by protein folding (GO:0022417)3.81251617
21erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)3.76306812
22L-phenylalanine metabolic process (GO:0006558)3.76306812
23SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.74222931
24cotranslational protein targeting to membrane (GO:0006613)3.68243126
25proteasome assembly (GO:0043248)3.66985297
26protein targeting to ER (GO:0045047)3.63614222
27viral transcription (GO:0019083)3.62611582
28regulation of cellular amino acid metabolic process (GO:0006521)3.56469279
29translational termination (GO:0006415)3.53387431
30establishment of protein localization to endoplasmic reticulum (GO:0072599)3.50967028
31maturation of SSU-rRNA (GO:0030490)3.48962987
32protein localization to endoplasmic reticulum (GO:0070972)3.48104529
33protein targeting to mitochondrion (GO:0006626)3.48067548
34ribosomal large subunit biogenesis (GO:0042273)3.43543354
35protein neddylation (GO:0045116)3.43166938
36cytochrome complex assembly (GO:0017004)3.42636431
37termination of RNA polymerase III transcription (GO:0006386)3.41709993
38transcription elongation from RNA polymerase III promoter (GO:0006385)3.41709993
39ribosomal small subunit assembly (GO:0000028)3.38509489
40deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.34357907
41translation (GO:0006412)3.30728494
42aldehyde catabolic process (GO:0046185)3.30338203
43positive regulation of mitochondrial fission (GO:0090141)3.27998761
44erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)3.26302744
45L-phenylalanine catabolic process (GO:0006559)3.26302744
46translational elongation (GO:0006414)3.25613951
47negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.24185131
48cellular component biogenesis (GO:0044085)3.21909198
49establishment of protein localization to mitochondrion (GO:0072655)3.17536099
50GTP biosynthetic process (GO:0006183)3.15779051
51positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.13428774
52protein localization to mitochondrion (GO:0070585)3.10940148
53nucleobase-containing small molecule interconversion (GO:0015949)3.07016119
54purine nucleoside triphosphate biosynthetic process (GO:0009145)3.05599863
55purine ribonucleoside triphosphate biosynthetic process (GO:0009206)3.00778322
56negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.00662420
57negative regulation of ligase activity (GO:0051352)3.00662420
58viral life cycle (GO:0019058)2.98124716
59mitochondrial transport (GO:0006839)2.97669308
60DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:002.96281810
61ATP biosynthetic process (GO:0006754)2.96041250
62water-soluble vitamin biosynthetic process (GO:0042364)2.93849747
63regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)2.93094808
64RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.90846675
65tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.90846675
66intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)2.87917192
67signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)2.87917192
68signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)2.86583066
69signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)2.86583066
70signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)2.86583066
71regulation of cellular amine metabolic process (GO:0033238)2.86293553
72phenylpropanoid metabolic process (GO:0009698)2.85767827
73pteridine-containing compound biosynthetic process (GO:0042559)2.82738648
74serine family amino acid catabolic process (GO:0009071)2.82510669
75ribonucleoprotein complex biogenesis (GO:0022613)2.81854517
76anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:02.79766438
77ribonucleoside triphosphate biosynthetic process (GO:0009201)2.79339997
78signal transduction involved in DNA integrity checkpoint (GO:0072401)2.78989590
79signal transduction involved in DNA damage checkpoint (GO:0072422)2.78989590
80hydrogen ion transmembrane transport (GO:1902600)2.78194198
81UTP biosynthetic process (GO:0006228)2.77755382
82signal transduction involved in cell cycle checkpoint (GO:0072395)2.76933056
83cellular protein complex disassembly (GO:0043624)2.76785643
84translational initiation (GO:0006413)2.76390003
85base-excision repair, AP site formation (GO:0006285)2.74845577
86cellular response to zinc ion (GO:0071294)2.74650164
87CTP metabolic process (GO:0046036)2.68941235
88CTP biosynthetic process (GO:0006241)2.68941235
89guanosine-containing compound biosynthetic process (GO:1901070)2.65672877
90regulation of cellular respiration (GO:0043457)2.65593482
91pseudouridine synthesis (GO:0001522)2.65258038
92protein heterotetramerization (GO:0051290)2.64527664
93intracellular protein transmembrane import (GO:0044743)2.60939960
94UTP metabolic process (GO:0046051)2.59988263
95pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)2.59606748
96nucleoside triphosphate biosynthetic process (GO:0009142)2.59223106
97pyrimidine nucleoside triphosphate metabolic process (GO:0009147)2.58502527
98nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)2.58266180
99branched-chain amino acid catabolic process (GO:0009083)2.58195275
100protein targeting to membrane (GO:0006612)2.58002100

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human5.11284026
2GABP_17652178_ChIP-ChIP_JURKAT_Human4.80494112
3JARID1A_20064375_ChIP-Seq_MESCs_Mouse4.14624618
4EST1_17652178_ChIP-ChIP_JURKAT_Human3.74041852
5ETS1_20019798_ChIP-Seq_JURKAT_Human3.35594702
6E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.25490267
7CREB1_15753290_ChIP-ChIP_HEK293T_Human3.25122851
8NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.16639479
9MYC_18555785_ChIP-Seq_MESCs_Mouse3.15657731
10HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.99107402
11HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.98453087
12EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.91809389
13ELF1_17652178_ChIP-ChIP_JURKAT_Human2.79567181
14TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.73862016
15MYC_18358816_ChIP-ChIP_MESCs_Mouse2.69937447
16PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.58645082
17SRF_21415370_ChIP-Seq_HL-1_Mouse2.53885047
18DCP1A_22483619_ChIP-Seq_HELA_Human2.39965893
19THAP11_20581084_ChIP-Seq_MESCs_Mouse2.33992163
20CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.33542180
21E2F1_18555785_ChIP-Seq_MESCs_Mouse2.32325062
22* GABP_19822575_ChIP-Seq_HepG2_Human2.25365106
23FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.23970832
24ELK1_19687146_ChIP-ChIP_HELA_Human2.23467392
25MYC_19030024_ChIP-ChIP_MESCs_Mouse2.16655295
26XRN2_22483619_ChIP-Seq_HELA_Human2.02600812
27PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.95936663
28PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.93014885
29TTF2_22483619_ChIP-Seq_HELA_Human1.91905054
30VDR_23849224_ChIP-Seq_CD4+_Human1.90587902
31CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.89465364
32NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.88222873
33MYC_19079543_ChIP-ChIP_MESCs_Mouse1.87790802
34ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.85494833
35FOXP3_21729870_ChIP-Seq_TREG_Human1.82178709
36ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.74725665
37ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.73861921
38NELFA_20434984_ChIP-Seq_ESCs_Mouse1.71346421
39FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.69744889
40YY1_21170310_ChIP-Seq_MESCs_Mouse1.65258406
41CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.50083577
42CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.47708952
43HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.45827259
44ZFX_18555785_ChIP-Seq_MESCs_Mouse1.44328093
45AR_21909140_ChIP-Seq_LNCAP_Human1.44056400
46TRIM28_21343339_ChIP-Seq_HEK293_Human1.40327643
47ELK1_22589737_ChIP-Seq_MCF10A_Human1.40122754
48PADI4_21655091_ChIP-ChIP_MCF-7_Human1.36592542
49ESR1_15608294_ChIP-ChIP_MCF-7_Human1.33217423
50MYC_18940864_ChIP-ChIP_HL60_Human1.33138376
51E2F7_22180533_ChIP-Seq_HELA_Human1.32802247
52EGR1_23403033_ChIP-Seq_LIVER_Mouse1.29859063
53SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.27368252
54MYCN_18555785_ChIP-Seq_MESCs_Mouse1.26249302
55TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.26011165
56POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.23366904
57HIF1A_21447827_ChIP-Seq_MCF-7_Human1.22665332
58DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.22630260
59CTCF_18555785_ChIP-Seq_MESCs_Mouse1.22032459
60HOXB4_20404135_ChIP-ChIP_EML_Mouse1.19721974
61CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.18865104
62YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.16574655
63MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.12110157
64KDM5A_27292631_Chip-Seq_BREAST_Human1.08418860
65DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.07942785
66BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.06414093
67ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.05349038
68TBX5_21415370_ChIP-Seq_HL-1_Mouse1.01831136
69ERG_20887958_ChIP-Seq_HPC-7_Mouse1.01569501
70E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.99957254
71SOX17_20123909_ChIP-Seq_XEN_Mouse0.99368921
72FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human0.98361249
73SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.98116443
74CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.98042139
75NANOG_18555785_ChIP-Seq_MESCs_Mouse0.97273704
76PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse0.96784355
77SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.96730029
78POU5F1_18555785_ChIP-Seq_MESCs_Mouse0.94997212
79KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.94537418
80FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.93637107
81CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.93039527
82RXR_22158963_ChIP-Seq_LIVER_Mouse0.92105765
83FOXP1_21924763_ChIP-Seq_HESCs_Human0.91875003
84E2F4_17652178_ChIP-ChIP_JURKAT_Human0.91529742
85TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.90385374
86SOX2_18555785_ChIP-Seq_MESCs_Mouse0.89026331
87ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.86898771
88SMAD4_19686287_ChIP-ChIP_HaCaT_Human0.86745091
89SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.86202971
90TFEB_21752829_ChIP-Seq_HELA_Human0.85169735
91CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.84028779
92POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.83830458
93EOMES_21245162_ChIP-Seq_HESCs_Human0.83353980
94AR_20517297_ChIP-Seq_VCAP_Human0.82252561
95MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse0.81679735
96TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.79351244
97TET1_21451524_ChIP-Seq_MESCs_Mouse0.78258321
98PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.78144380
99SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.77540599
100TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.75824414

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003806_abnormal_nucleotide_metabolis3.87137972
2MP0003186_abnormal_redox_activity3.70780604
3MP0002163_abnormal_gland_morphology2.87615498
4MP0005360_urolithiasis2.73821457
5MP0009697_abnormal_copulation2.69601026
6MP0008875_abnormal_xenobiotic_pharmacok2.62302939
7MP0006292_abnormal_olfactory_placode2.57561908
8MP0009379_abnormal_foot_pigmentation2.52467547
9MP0010386_abnormal_urinary_bladder2.48604749
10MP0002139_abnormal_hepatobiliary_system2.45268488
11MP0005408_hypopigmentation2.30427088
12MP0010030_abnormal_orbit_morphology2.29854136
13MP0003123_paternal_imprinting2.29679931
14MP0008789_abnormal_olfactory_epithelium2.27183014
15MP0006036_abnormal_mitochondrial_physio2.22537907
16MP0003950_abnormal_plasma_membrane2.14758794
17MP0002876_abnormal_thyroid_physiology2.14365840
18MP0002160_abnormal_reproductive_system2.12067958
19MP0003195_calcinosis2.08927876
20MP0004133_heterotaxia2.08093555
21MP0005085_abnormal_gallbladder_physiolo2.03239511
22MP0005379_endocrine/exocrine_gland_phen1.97922217
23MP0002653_abnormal_ependyma_morphology1.97735924
24MP0003011_delayed_dark_adaptation1.95537927
25MP0000372_irregular_coat_pigmentation1.93942065
26MP0004147_increased_porphyrin_level1.93589086
27MP0005365_abnormal_bile_salt1.93331573
28MP0005499_abnormal_olfactory_system1.85707431
29MP0005394_taste/olfaction_phenotype1.85707431
30MP0002938_white_spotting1.75376334
31MP0001764_abnormal_homeostasis1.65853077
32MP0002102_abnormal_ear_morphology1.61043437
33MP0005332_abnormal_amino_acid1.53176482
34MP0008058_abnormal_DNA_repair1.50281218
35MP0006072_abnormal_retinal_apoptosis1.43794413
36MP0002909_abnormal_adrenal_gland1.41321975
37MP0002638_abnormal_pupillary_reflex1.41003481
38MP0001661_extended_life_span1.36468596
39MP0005389_reproductive_system_phenotype1.35943487
40MP0003718_maternal_effect1.34265966
41MP0006276_abnormal_autonomic_nervous1.28978732
42MP0003890_abnormal_embryonic-extraembry1.28357895
43MP0000538_abnormal_urinary_bladder1.27971281
44MP0002837_dystrophic_cardiac_calcinosis1.25999270
45MP0004957_abnormal_blastocyst_morpholog1.25644395
46MP0002234_abnormal_pharynx_morphology1.24439267
47MP0001905_abnormal_dopamine_level1.22074785
48MP0005075_abnormal_melanosome_morpholog1.14123299
49MP0000534_abnormal_ureter_morphology1.08683080
50MP0005551_abnormal_eye_electrophysiolog1.07485712
51MP0001529_abnormal_vocalization1.07224021
52MP0005084_abnormal_gallbladder_morpholo1.06995179
53MP0001727_abnormal_embryo_implantation1.05985370
54MP0005257_abnormal_intraocular_pressure1.05567630
55MP0005197_abnormal_uvea_morphology1.03930567
56MP0001542_abnormal_bone_strength1.00707199
57MP0006035_abnormal_mitochondrial_morpho0.98992828
58MP0003942_abnormal_urinary_system0.96396131
59MP0003693_abnormal_embryo_hatching0.94976211
60MP0008932_abnormal_embryonic_tissue0.94498338
61MP0000358_abnormal_cell_content/0.91563295
62MP0000015_abnormal_ear_pigmentation0.91416979
63MP0003786_premature_aging0.91098377
64MP0005670_abnormal_white_adipose0.88328456
65MP0004019_abnormal_vitamin_homeostasis0.86956778
66MP0009780_abnormal_chondrocyte_physiolo0.84798317
67MP0003252_abnormal_bile_duct0.84421546
68MP0005623_abnormal_meninges_morphology0.82431603
69MP0002095_abnormal_skin_pigmentation0.82365630
70MP0001919_abnormal_reproductive_system0.82309051
71MP0002090_abnormal_vision0.81471367
72MP0000371_diluted_coat_color0.80468268
73MP0005195_abnormal_posterior_eye0.79125696
74MP0003941_abnormal_skin_development0.78247192
75MP0000647_abnormal_sebaceous_gland0.77861607
76MP0002138_abnormal_hepatobiliary_system0.77166998
77MP0002928_abnormal_bile_duct0.77089767
78MP0001324_abnormal_eye_pigmentation0.76954444
79MP0002233_abnormal_nose_morphology0.76346238
80MP0010329_abnormal_lipoprotein_level0.74356814
81MP0003868_abnormal_feces_composition0.73742305
82MP0005193_abnormal_anterior_eye0.72511255
83MP0005636_abnormal_mineral_homeostasis0.71606967
84MP0004233_abnormal_muscle_weight0.71528163
85MP0001186_pigmentation_phenotype0.71174244
86MP0004142_abnormal_muscle_tone0.70770144
87MP0008007_abnormal_cellular_replicative0.70451144
88MP0003755_abnormal_palate_morphology0.70174457
89MP0000427_abnormal_hair_cycle0.68791958
90MP0005319_abnormal_enzyme/_coenzyme0.67267765
91MP0001944_abnormal_pancreas_morphology0.66079648
92MP0005395_other_phenotype0.65242931
93MP0005253_abnormal_eye_physiology0.64847358
94MP0001756_abnormal_urination0.64026141
95MP0003077_abnormal_cell_cycle0.63808276
96MP0003880_abnormal_central_pattern0.63254470
97MP0002132_abnormal_respiratory_system0.63167003
98MP0000003_abnormal_adipose_tissue0.62305310
99MP0000639_abnormal_adrenal_gland0.61641075
100MP0004272_abnormal_basement_membrane0.61524241

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)5.56921774
2Acute encephalopathy (HP:0006846)5.31702008
3Abnormal mitochondria in muscle tissue (HP:0008316)5.25375583
4Mitochondrial inheritance (HP:0001427)4.69034066
5Progressive macrocephaly (HP:0004481)4.65083369
6Increased CSF lactate (HP:0002490)4.37432153
7Hepatocellular necrosis (HP:0001404)4.31912856
8Abnormality of aromatic amino acid family metabolism (HP:0004338)4.26928510
9Cerebral edema (HP:0002181)4.15156661
10Hepatic necrosis (HP:0002605)4.15006127
11Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.62094916
12Decreased activity of mitochondrial respiratory chain (HP:0008972)3.62094916
13Increased serum pyruvate (HP:0003542)3.43740601
14Increased hepatocellular lipid droplets (HP:0006565)3.31444329
15Reduced antithrombin III activity (HP:0001976)3.30101752
16Renal Fanconi syndrome (HP:0001994)3.19769991
17Microretrognathia (HP:0000308)3.09565513
18Abnormality of glycolysis (HP:0004366)3.05976571
19Lactic acidosis (HP:0003128)3.02697447
20Respiratory failure (HP:0002878)3.01338112
21Lipid accumulation in hepatocytes (HP:0006561)2.97747689
22Type I transferrin isoform profile (HP:0003642)2.93942833
23Aplasia/Hypoplasia of the sacrum (HP:0008517)2.91760359
24Increased serum lactate (HP:0002151)2.84645823
25Pancreatic fibrosis (HP:0100732)2.78269370
26Lethargy (HP:0001254)2.77326738
27Exercise intolerance (HP:0003546)2.76774737
28Abnormality of cells of the erythroid lineage (HP:0012130)2.65849497
29Abnormality of midbrain morphology (HP:0002418)2.63866058
30Molar tooth sign on MRI (HP:0002419)2.63866058
31Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.58538563
323-Methylglutaconic aciduria (HP:0003535)2.58210260
33Congenital malformation of the right heart (HP:0011723)2.53078384
34Double outlet right ventricle (HP:0001719)2.53078384
35Increased intramyocellular lipid droplets (HP:0012240)2.51413206
36Reticulocytopenia (HP:0001896)2.50118245
37Generalized aminoaciduria (HP:0002909)2.48561061
38Pancreatic cysts (HP:0001737)2.40158204
39Bile duct proliferation (HP:0001408)2.37318491
40Abnormal biliary tract physiology (HP:0012439)2.37318491
41Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.36970341
42Abnormality of alanine metabolism (HP:0010916)2.36970341
43Hyperalaninemia (HP:0003348)2.36970341
44Bifid tongue (HP:0010297)2.34741515
45CNS demyelination (HP:0007305)2.32086516
46Macrocytic anemia (HP:0001972)2.28489885
47Leukodystrophy (HP:0002415)2.26786596
48Glycosuria (HP:0003076)2.26218692
49Abnormality of urine glucose concentration (HP:0011016)2.26218692
50Hypobetalipoproteinemia (HP:0003563)2.26186744
51Abnormal protein glycosylation (HP:0012346)2.22831700
52Abnormal glycosylation (HP:0012345)2.22831700
53Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.22831700
54Abnormal protein N-linked glycosylation (HP:0012347)2.22831700
55Abnormal number of erythroid precursors (HP:0012131)2.20104247
56Hyperglycinemia (HP:0002154)2.19509426
57Optic disc pallor (HP:0000543)2.13499335
58Prolonged partial thromboplastin time (HP:0003645)2.13041323
59Conjugated hyperbilirubinemia (HP:0002908)2.11478623
60Abnormality of serum amino acid levels (HP:0003112)2.10486332
61Hyperammonemia (HP:0001987)2.05384500
62Increased muscle lipid content (HP:0009058)2.03170558
63Metabolic acidosis (HP:0001942)2.00760712
64Blindness (HP:0000618)1.99141993
65Exertional dyspnea (HP:0002875)1.94681752
66Hypoglycemic coma (HP:0001325)1.94325262
67X-linked dominant inheritance (HP:0001423)1.94171193
68Muscle abnormality related to mitochondrial dysfunction (HP:0003800)1.91095961
69Abnormality of renal resorption (HP:0011038)1.90444040
70Emotional lability (HP:0000712)1.90184814
71Metaphyseal dysplasia (HP:0100255)1.90181690
72Hypokinesia (HP:0002375)1.86816178
73Occipital encephalocele (HP:0002085)1.85948202
74Hyperphosphaturia (HP:0003109)1.85808065
75Respiratory difficulties (HP:0002880)1.84917299
76Adrenal hypoplasia (HP:0000835)1.84807535
77Median cleft lip (HP:0000161)1.84148078
78Renal tubular dysfunction (HP:0000124)1.83800006
79Degeneration of anterior horn cells (HP:0002398)1.83330460
80Abnormality of the anterior horn cell (HP:0006802)1.83330460
81Abnormality of monocarboxylic acid metabolism (HP:0010996)1.81877958
82Hyperinsulinemic hypoglycemia (HP:0000825)1.80770391
83Ketoacidosis (HP:0001993)1.79408963
84Medial flaring of the eyebrow (HP:0010747)1.78457388
85Aplasia/Hypoplasia of the tongue (HP:0010295)1.76115094
86Vomiting (HP:0002013)1.75077017
87Delayed CNS myelination (HP:0002188)1.71462018
88Cerebral hypomyelination (HP:0006808)1.71422104
89Dicarboxylic aciduria (HP:0003215)1.70743220
90Abnormality of dicarboxylic acid metabolism (HP:0010995)1.70743220
91Testicular atrophy (HP:0000029)1.69230964
92True hermaphroditism (HP:0010459)1.68908084
93Abnormality of methionine metabolism (HP:0010901)1.67027779
94Hypoglycemic seizures (HP:0002173)1.66591743
95Concave nail (HP:0001598)1.65958677
96Nephrogenic diabetes insipidus (HP:0009806)1.65708694
97Sclerocornea (HP:0000647)1.65476988
98Methylmalonic aciduria (HP:0012120)1.64318952
99Abnormal pancreas size (HP:0012094)1.62704475
100Deep venous thrombosis (HP:0002625)1.62585224

Predicted kinase interactions (KEA)

RankGene SetZ-score
1STK165.66688988
2MST43.28562090
3LIMK13.23282006
4NME23.15608277
5TESK13.07122306
6BCKDK2.96179142
7MAP4K22.94489300
8VRK22.68187116
9PBK2.55890281
10TRIM282.44419834
11NEK12.23305649
12ARAF1.89636129
13BUB11.87026960
14MAP3K121.80417881
15PIM21.63906396
16TESK21.63106812
17LRRK21.59886076
18ABL21.54611691
19MST1R1.44214892
20ILK1.41190036
21NUAK11.38821171
22PRKCI1.38444217
23EPHA21.33942984
24SIK31.30435535
25MYLK1.28555236
26EIF2AK11.27545087
27ZAK1.18499741
28PDK21.14750917
29BRSK11.13604348
30SRPK11.10377101
31CDC71.09903202
32BCR1.04908516
33MUSK1.00476804
34DYRK30.99853374
35EIF2AK30.98596850
36NME10.98592364
37ADRBK20.97876171
38GRK10.94643638
39BRAF0.92454347
40CAMKK20.91220508
41BMPR1B0.90062853
42MINK10.82158903
43PLK10.81085343
44CASK0.79165065
45AURKA0.78974557
46WEE10.76422174
47ERBB30.76281302
48KDR0.73396277
49DAPK30.71710836
50CDK80.71481725
51PRKCE0.71127921
52RPS6KB20.71072740
53CSNK1G30.69569442
54ERBB40.69163719
55DAPK10.68915007
56PAK40.68557214
57VRK10.67999901
58PTK20.67523865
59PAK30.65740334
60AKT20.65581609
61PLK20.64248809
62AURKB0.62975111
63CSNK2A20.62124035
64CSNK2A10.61866040
65LMTK20.58845647
66CAMK2G0.58653831
67DYRK20.57864354
68CDK180.56815699
69CDK70.55932326
70PLK30.53186743
71FRK0.53055630
72CDK140.51836689
73STK100.51730893
74PAK10.51698534
75PAK20.50692351
76CDK11A0.50144279
77RPS6KA40.49914324
78CSNK1G10.49552610
79MAP3K80.49214771
80MAP2K70.49008228
81CSNK1A1L0.48015625
82CDK150.47391404
83CCNB10.47383313
84CHEK20.46504516
85CSNK1G20.45187779
86MAP2K60.42257625
87IRAK30.40267718
88PHKG10.40079192
89PHKG20.40079192
90PRKCG0.39560929
91TLK10.39216766
92CAMK2D0.39200339
93RPS6KA50.38480017
94MET0.37259531
95PASK0.36856343
96ADRBK10.36834504
97PIK3CA0.36448471
98DMPK0.32203967
99ROCK20.31702284
100DDR20.31093083

Predicted pathways (KEGG)

RankGene SetZ-score
1Oxidative phosphorylation_Homo sapiens_hsa001903.61362156
2Proteasome_Homo sapiens_hsa030503.47550358
3Ribosome_Homo sapiens_hsa030103.37975649
4Parkinsons disease_Homo sapiens_hsa050123.05853799
5Protein export_Homo sapiens_hsa030602.49418913
6Huntingtons disease_Homo sapiens_hsa050162.24884608
7Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.21071898
8RNA polymerase_Homo sapiens_hsa030202.14062457
9Alzheimers disease_Homo sapiens_hsa050102.03352413
10Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.99441898
11Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.90137372
12Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.89812658
13Folate biosynthesis_Homo sapiens_hsa007901.88153265
14Sulfur metabolism_Homo sapiens_hsa009201.85301696
15Fatty acid elongation_Homo sapiens_hsa000621.81485947
16Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.79163581
17Primary bile acid biosynthesis_Homo sapiens_hsa001201.76821038
18Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.72930914
19Vitamin B6 metabolism_Homo sapiens_hsa007501.68568968
20Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.67083495
21Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.66269437
222-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.64759538
23Pentose and glucuronate interconversions_Homo sapiens_hsa000401.63177017
24Pyruvate metabolism_Homo sapiens_hsa006201.61377027
25Propanoate metabolism_Homo sapiens_hsa006401.56385175
26Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.54758136
27Sulfur relay system_Homo sapiens_hsa041221.53818800
28Pyrimidine metabolism_Homo sapiens_hsa002401.47077163
29Mismatch repair_Homo sapiens_hsa034301.43778088
30Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.41592879
31Glutathione metabolism_Homo sapiens_hsa004801.39944427
32Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.39390778
33Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.36694043
34DNA replication_Homo sapiens_hsa030301.35968460
35Peroxisome_Homo sapiens_hsa041461.33025277
36Carbon metabolism_Homo sapiens_hsa012001.32761515
37Chemical carcinogenesis_Homo sapiens_hsa052041.27954086
38Butanoate metabolism_Homo sapiens_hsa006501.25043659
39Base excision repair_Homo sapiens_hsa034101.22776960
40Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.20340777
41Drug metabolism - other enzymes_Homo sapiens_hsa009831.20291936
42Steroid hormone biosynthesis_Homo sapiens_hsa001401.18132272
43Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.17291315
44Nucleotide excision repair_Homo sapiens_hsa034201.17262522
45Cardiac muscle contraction_Homo sapiens_hsa042601.17144564
46Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.15905280
47Biosynthesis of amino acids_Homo sapiens_hsa012301.15464547
48Maturity onset diabetes of the young_Homo sapiens_hsa049501.14572058
49Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.14269235
50Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.14266604
51Phenylalanine metabolism_Homo sapiens_hsa003601.14202772
52Retinol metabolism_Homo sapiens_hsa008301.14112438
53Fatty acid degradation_Homo sapiens_hsa000711.13548448
54Cysteine and methionine metabolism_Homo sapiens_hsa002701.10287739
55One carbon pool by folate_Homo sapiens_hsa006701.06221858
56Metabolic pathways_Homo sapiens_hsa011001.00043588
57Homologous recombination_Homo sapiens_hsa034400.97588586
58Arginine and proline metabolism_Homo sapiens_hsa003300.94495043
59Galactose metabolism_Homo sapiens_hsa000520.91799925
60Steroid biosynthesis_Homo sapiens_hsa001000.90269897
61Arginine biosynthesis_Homo sapiens_hsa002200.88900144
62Fatty acid metabolism_Homo sapiens_hsa012120.88816282
63Tryptophan metabolism_Homo sapiens_hsa003800.86194967
64Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.85216551
65Purine metabolism_Homo sapiens_hsa002300.82576342
66Basal transcription factors_Homo sapiens_hsa030220.78968132
67N-Glycan biosynthesis_Homo sapiens_hsa005100.78637475
68Tyrosine metabolism_Homo sapiens_hsa003500.77849652
69beta-Alanine metabolism_Homo sapiens_hsa004100.75580213
70RNA degradation_Homo sapiens_hsa030180.73650481
71Selenocompound metabolism_Homo sapiens_hsa004500.71728774
72Fanconi anemia pathway_Homo sapiens_hsa034600.69026552
73Pentose phosphate pathway_Homo sapiens_hsa000300.68789251
74Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.68776843
75Non-homologous end-joining_Homo sapiens_hsa034500.66632220
76Complement and coagulation cascades_Homo sapiens_hsa046100.63311546
77Spliceosome_Homo sapiens_hsa030400.61660807
78RNA transport_Homo sapiens_hsa030130.58437141
79Vibrio cholerae infection_Homo sapiens_hsa051100.58422598
80Caffeine metabolism_Homo sapiens_hsa002320.55142502
81Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.53581646
82Starch and sucrose metabolism_Homo sapiens_hsa005000.53285323
83Fructose and mannose metabolism_Homo sapiens_hsa000510.51785040
84Arachidonic acid metabolism_Homo sapiens_hsa005900.50513079
85Mineral absorption_Homo sapiens_hsa049780.45589934
86Phototransduction_Homo sapiens_hsa047440.45470018
87Collecting duct acid secretion_Homo sapiens_hsa049660.38152615
88Glycosaminoglycan degradation_Homo sapiens_hsa005310.37090883
89Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.36519061
90Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.30672333
91PPAR signaling pathway_Homo sapiens_hsa033200.30093251
92Histidine metabolism_Homo sapiens_hsa003400.28814589
93p53 signaling pathway_Homo sapiens_hsa041150.28613528
94Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.26989221
95Linoleic acid metabolism_Homo sapiens_hsa005910.26889642
96Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.26055743
97SNARE interactions in vesicular transport_Homo sapiens_hsa041300.25595211
98Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.24637889
99Sphingolipid metabolism_Homo sapiens_hsa006000.24300811
100Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.23141853

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