C21ORF59

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





Description: This gene encodes a protein that plays a critical role in dynein arm assembly and motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Naturally occuring readthrough transcription occurs from this locus to the downstream t-complex 10 like (TCP10L) gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1axonemal dynein complex assembly (GO:0070286)5.55683558
2mitochondrial ATP synthesis coupled proton transport (GO:0042776)5.48373474
3energy coupled proton transport, down electrochemical gradient (GO:0015985)4.71828252
4ATP synthesis coupled proton transport (GO:0015986)4.71828252
5chaperone-mediated protein transport (GO:0072321)4.64291060
6establishment of protein localization to mitochondrial membrane (GO:0090151)4.61659320
7mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.48855375
8ribosomal small subunit biogenesis (GO:0042274)4.42341559
9maturation of SSU-rRNA (GO:0030490)4.33133852
10viral transcription (GO:0019083)4.31896418
11ribosomal small subunit assembly (GO:0000028)4.26111424
12translational termination (GO:0006415)4.22970605
13cilium movement (GO:0003341)4.17724821
14epithelial cilium movement (GO:0003351)4.15854264
15respiratory electron transport chain (GO:0022904)4.10789571
16electron transport chain (GO:0022900)4.05035122
17pyrimidine deoxyribonucleotide catabolic process (GO:0009223)4.02545701
18proteasome assembly (GO:0043248)3.92923489
19SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.91287481
20regulation of mitochondrial translation (GO:0070129)3.87710902
21cotranslational protein targeting to membrane (GO:0006613)3.87618074
22epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.83791643
23protein targeting to ER (GO:0045047)3.82436125
24cilium or flagellum-dependent cell motility (GO:0001539)3.73061570
25establishment of protein localization to endoplasmic reticulum (GO:0072599)3.67915797
26translational elongation (GO:0006414)3.66535701
27motile cilium assembly (GO:0044458)3.61194745
28chromatin remodeling at centromere (GO:0031055)3.61087991
29protein localization to endoplasmic reticulum (GO:0070972)3.60986625
30ribosomal large subunit biogenesis (GO:0042273)3.58348128
31CENP-A containing nucleosome assembly (GO:0034080)3.55325989
32establishment of integrated proviral latency (GO:0075713)3.54350147
33nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.47456747
34translational initiation (GO:0006413)3.45315307
35negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.43695399
36pyrimidine nucleotide catabolic process (GO:0006244)3.43535726
37cellular protein complex disassembly (GO:0043624)3.38339413
38protein complex biogenesis (GO:0070271)3.38267438
39viral life cycle (GO:0019058)3.36517718
40translation (GO:0006412)3.36323929
41base-excision repair, AP site formation (GO:0006285)3.35003560
42mitochondrial respiratory chain complex assembly (GO:0033108)3.34085820
43transcription elongation from RNA polymerase III promoter (GO:0006385)3.33508182
44termination of RNA polymerase III transcription (GO:0006386)3.33508182
45rRNA modification (GO:0000154)3.29766536
46regulation of cilium movement (GO:0003352)3.28685117
47pyrimidine deoxyribonucleotide metabolic process (GO:0009219)3.28251854
48protein targeting to mitochondrion (GO:0006626)3.28016160
49spliceosomal snRNP assembly (GO:0000387)3.27034983
50RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.26778114
51tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.26778114
52DNA damage response, detection of DNA damage (GO:0042769)3.26447930
53oxidative phosphorylation (GO:0006119)3.25713531
54mitochondrial respiratory chain complex I assembly (GO:0032981)3.20010547
55NADH dehydrogenase complex assembly (GO:0010257)3.20010547
56mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.20010547
57ribonucleoprotein complex biogenesis (GO:0022613)3.18798471
58regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.14560361
59protein localization to mitochondrion (GO:0070585)3.12912796
60DNA replication checkpoint (GO:0000076)3.12837104
61negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.12333285
62negative regulation of ligase activity (GO:0051352)3.12333285
63pseudouridine synthesis (GO:0001522)3.11121519
64establishment of protein localization to mitochondrion (GO:0072655)3.10432654
65cellular component biogenesis (GO:0044085)3.09833029
66intraciliary transport (GO:0042073)3.09510440
67exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.07123197
68positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.06949804
69DNA replication-independent nucleosome organization (GO:0034724)3.06422837
70DNA replication-independent nucleosome assembly (GO:0006336)3.06422837
71regulation of cellular amino acid metabolic process (GO:0006521)3.05188209
72protein neddylation (GO:0045116)3.04571910
73anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.04511779
74nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.04060095
75protein complex disassembly (GO:0043241)3.02679198
76formation of translation preinitiation complex (GO:0001731)2.98107230
77GTP biosynthetic process (GO:0006183)2.98093752
78inner mitochondrial membrane organization (GO:0007007)2.96360389
79macromolecular complex disassembly (GO:0032984)2.95702354
80purine nucleoside triphosphate biosynthetic process (GO:0009145)2.94862549
81purine ribonucleoside triphosphate biosynthetic process (GO:0009206)2.94440536
82rRNA processing (GO:0006364)2.94129200
83ATP biosynthetic process (GO:0006754)2.93286889
84DNA strand elongation involved in DNA replication (GO:0006271)2.91304467
85purine nucleobase biosynthetic process (GO:0009113)2.88945778
86pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)2.88753856
87establishment of viral latency (GO:0019043)2.86755176
88histone exchange (GO:0043486)2.86509366
89rRNA metabolic process (GO:0016072)2.86076497
90respiratory chain complex IV assembly (GO:0008535)2.85070872
91pyrimidine nucleoside triphosphate metabolic process (GO:0009147)2.82505107
92nucleoside triphosphate biosynthetic process (GO:0009142)2.82157962
93ribonucleoside triphosphate biosynthetic process (GO:0009201)2.81528183
94telomere maintenance via semi-conservative replication (GO:0032201)2.80884037
95cullin deneddylation (GO:0010388)2.80500910
96axoneme assembly (GO:0035082)2.80037117
97DNA strand elongation (GO:0022616)2.79547970
98DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:002.77835505
99UTP biosynthetic process (GO:0006228)2.76713521
100nuclear-transcribed mRNA catabolic process (GO:0000956)2.74568416

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse4.45219281
2* KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.35423146
3MYC_18555785_ChIP-Seq_MESCs_Mouse4.18772216
4E2F7_22180533_ChIP-Seq_HELA_Human3.96487094
5* GABP_17652178_ChIP-ChIP_JURKAT_Human3.94855640
6TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat3.90021635
7* EST1_17652178_ChIP-ChIP_JURKAT_Human3.59671673
8JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.58487055
9HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.31780587
10ETS1_20019798_ChIP-Seq_JURKAT_Human3.28790751
11* CREB1_15753290_ChIP-ChIP_HEK293T_Human3.20238119
12EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.08636647
13MYC_18358816_ChIP-ChIP_MESCs_Mouse2.88354353
14HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.77747881
15CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.69312835
16MYC_19030024_ChIP-ChIP_MESCs_Mouse2.63930140
17E2F4_17652178_ChIP-ChIP_JURKAT_Human2.57164674
18NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.51525202
19THAP11_20581084_ChIP-Seq_MESCs_Mouse2.50046508
20MYC_19079543_ChIP-ChIP_MESCs_Mouse2.48895201
21XRN2_22483619_ChIP-Seq_HELA_Human2.48828403
22FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.28074214
23TTF2_22483619_ChIP-Seq_HELA_Human2.26056080
24MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.23087865
25* GABP_19822575_ChIP-Seq_HepG2_Human2.18255345
26ELF1_17652178_ChIP-ChIP_JURKAT_Human2.17324935
27E2F1_18555785_ChIP-Seq_MESCs_Mouse2.13840309
28VDR_23849224_ChIP-Seq_CD4+_Human2.12309341
29DCP1A_22483619_ChIP-Seq_HELA_Human2.08351658
30ZFP42_18358816_ChIP-ChIP_MESCs_Mouse2.04368479
31FOXP3_21729870_ChIP-Seq_TREG_Human2.02957426
32NELFA_20434984_ChIP-Seq_ESCs_Mouse2.02320743
33ELK1_19687146_ChIP-ChIP_HELA_Human2.00065478
34YY1_21170310_ChIP-Seq_MESCs_Mouse1.99228063
35PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.97618044
36YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.85086245
37SRF_21415370_ChIP-Seq_HL-1_Mouse1.82515571
38NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.76683813
39POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.71698257
40PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.68452150
41RBPJ_22232070_ChIP-Seq_NCS_Mouse1.64177453
42MYC_18940864_ChIP-ChIP_HL60_Human1.59843208
43MYCN_18555785_ChIP-Seq_MESCs_Mouse1.58490771
44SOX2_18555785_ChIP-Seq_MESCs_Mouse1.54176840
45MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.53193043
46POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.52856462
47HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.50512304
48FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.49951201
49MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.48477829
50FOXM1_23109430_ChIP-Seq_U2OS_Human1.48029048
51E2F1_21310950_ChIP-Seq_MCF-7_Human1.47556222
52PADI4_21655091_ChIP-ChIP_MCF-7_Human1.43680683
53NANOG_18555785_ChIP-Seq_MESCs_Mouse1.39957419
54CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.39138387
55ZFX_18555785_ChIP-Seq_MESCs_Mouse1.36247228
56SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.32329767
57KDM5A_27292631_Chip-Seq_BREAST_Human1.32294744
58CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.29805400
59SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.29254622
60ESR1_15608294_ChIP-ChIP_MCF-7_Human1.27024631
61DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.26896632
62HOXB4_20404135_ChIP-ChIP_EML_Mouse1.26645302
63AR_21909140_ChIP-Seq_LNCAP_Human1.25424407
64KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.24852895
65SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.20201355
66CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.17881474
67SOX2_16153702_ChIP-ChIP_HESCs_Human1.15333123
68ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.11622673
69POU5F1_16153702_ChIP-ChIP_HESCs_Human1.08416687
70KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.05822856
71E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.05532305
72* NANOG_16153702_ChIP-ChIP_HESCs_Human1.05443355
73ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.03832256
74BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.03266810
75CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons0.95467998
76CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.94828713
77EZH2_22144423_ChIP-Seq_EOC_Human0.93006120
78TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.91785652
79* FOXP1_21924763_ChIP-Seq_HESCs_Human0.91574540
80CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.88457091
81CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.86492698
82CIITA_25753668_ChIP-Seq_RAJI_Human0.85709886
83POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.84425976
84ERG_20887958_ChIP-Seq_HPC-7_Mouse0.83359424
85NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.82918301
86ELK1_22589737_ChIP-Seq_MCF10A_Human0.82320948
87ZNF263_19887448_ChIP-Seq_K562_Human0.81617333
88IRF1_19129219_ChIP-ChIP_H3396_Human0.80235488
89CTCF_18555785_ChIP-Seq_MESCs_Mouse0.80010315
90SOX2_18692474_ChIP-Seq_MEFs_Mouse0.79203801
91HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.78268197
92VDR_22108803_ChIP-Seq_LS180_Human0.78162512
93TP63_19390658_ChIP-ChIP_HaCaT_Human0.77433317
94ZNF274_21170338_ChIP-Seq_K562_Hela0.77092209
95* EWS_26573619_Chip-Seq_HEK293_Human0.77089864
96TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.75132274
97GATA1_26923725_Chip-Seq_HPCs_Mouse0.74347401
98SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.74166124
99* CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.73772684
100DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.73319064

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching3.29696848
2MP0009379_abnormal_foot_pigmentation3.18811625
3MP0006292_abnormal_olfactory_placode3.17095633
4MP0002653_abnormal_ependyma_morphology3.03895444
5MP0004957_abnormal_blastocyst_morpholog2.72125931
6MP0008058_abnormal_DNA_repair2.69117571
7MP0008789_abnormal_olfactory_epithelium2.50740818
8MP0010094_abnormal_chromosome_stability2.30304431
9MP0001529_abnormal_vocalization2.30177170
10MP0003718_maternal_effect2.24404973
11MP0005499_abnormal_olfactory_system2.20484012
12MP0005394_taste/olfaction_phenotype2.20484012
13MP0008932_abnormal_embryonic_tissue2.17314215
14MP0008877_abnormal_DNA_methylation1.98900772
15MP0003111_abnormal_nucleus_morphology1.96557495
16MP0003077_abnormal_cell_cycle1.94583179
17MP0002160_abnormal_reproductive_system1.93352895
18MP0004133_heterotaxia1.92966009
19MP0001293_anophthalmia1.90617956
20MP0001188_hyperpigmentation1.84891356
21MP0003890_abnormal_embryonic-extraembry1.80174757
22MP0003880_abnormal_central_pattern1.78798419
23MP0006276_abnormal_autonomic_nervous1.73768085
24MP0010030_abnormal_orbit_morphology1.71313091
25MP0003123_paternal_imprinting1.65798805
26MP0003787_abnormal_imprinting1.64842318
27MP0003121_genomic_imprinting1.62620088
28MP0003941_abnormal_skin_development1.61794768
29MP0003186_abnormal_redox_activity1.60906505
30MP0006036_abnormal_mitochondrial_physio1.59266420
31MP0001984_abnormal_olfaction1.54569805
32MP0006072_abnormal_retinal_apoptosis1.49754784
33MP0008995_early_reproductive_senescence1.47816455
34MP0008875_abnormal_xenobiotic_pharmacok1.45149979
35MP0002638_abnormal_pupillary_reflex1.42892794
36MP0002822_catalepsy1.40459086
37MP0002736_abnormal_nociception_after1.35364374
38MP0000566_synostosis1.34769923
39MP0002938_white_spotting1.33450575
40MP0003806_abnormal_nucleotide_metabolis1.33430912
41MP0008007_abnormal_cellular_replicative1.32026551
42MP0003786_premature_aging1.31885097
43MP0003937_abnormal_limbs/digits/tail_de1.31325719
44MP0000049_abnormal_middle_ear1.31062608
45MP0003136_yellow_coat_color1.29650722
46MP0006035_abnormal_mitochondrial_morpho1.27425589
47MP0003122_maternal_imprinting1.27119604
48MP0002210_abnormal_sex_determination1.20572927
49MP0003315_abnormal_perineum_morphology1.19210473
50MP0002234_abnormal_pharynx_morphology1.18263176
51MP0000631_abnormal_neuroendocrine_gland1.17876138
52MP0005389_reproductive_system_phenotype1.12737331
53MP0000778_abnormal_nervous_system1.12647769
54MP0002233_abnormal_nose_morphology1.11492334
55MP0002132_abnormal_respiratory_system1.10810932
56MP0004147_increased_porphyrin_level1.09634370
57MP0003861_abnormal_nervous_system1.08175797
58MP0003938_abnormal_ear_development1.06075813
59MP0001730_embryonic_growth_arrest1.05094563
60MP0002085_abnormal_embryonic_tissue1.04828219
61MP0002084_abnormal_developmental_patter1.02333102
62MP0001929_abnormal_gametogenesis1.01765746
63MP0003567_abnormal_fetal_cardiomyocyte1.00920453
64MP0001905_abnormal_dopamine_level1.00663694
65MP0009697_abnormal_copulation0.99655771
66MP0001145_abnormal_male_reproductive0.99125622
67MP0001286_abnormal_eye_development0.98715177
68MP0000350_abnormal_cell_proliferation0.97378718
69MP0003119_abnormal_digestive_system0.95714364
70MP0000653_abnormal_sex_gland0.93187760
71MP0009046_muscle_twitch0.92573697
72MP0002751_abnormal_autonomic_nervous0.92533179
73MP0000955_abnormal_spinal_cord0.92156482
74MP0002752_abnormal_somatic_nervous0.91584794
75MP0002111_abnormal_tail_morphology0.90683035
76MP0003698_abnormal_male_reproductive0.89506784
77MP0001697_abnormal_embryo_size0.87601631
78MP0002102_abnormal_ear_morphology0.86363564
79MP0005423_abnormal_somatic_nervous0.86029884
80MP0002184_abnormal_innervation0.85545310
81MP0000372_irregular_coat_pigmentation0.85339249
82MP0005253_abnormal_eye_physiology0.83782269
83MP0001727_abnormal_embryo_implantation0.83366356
84MP0002734_abnormal_mechanical_nocicepti0.82580927
85MP0002277_abnormal_respiratory_mucosa0.82507877
86MP0001968_abnormal_touch/_nociception0.82006953
87MP0002557_abnormal_social/conspecific_i0.81914905
88MP0001346_abnormal_lacrimal_gland0.81256654
89MP0002080_prenatal_lethality0.79127345
90MP0000358_abnormal_cell_content/0.78968444
91MP0005408_hypopigmentation0.78718519
92MP0001672_abnormal_embryogenesis/_devel0.77796889
93MP0005380_embryogenesis_phenotype0.77796889
94MP0005391_vision/eye_phenotype0.76258817
95MP0001485_abnormal_pinna_reflex0.73573725
96MP0002161_abnormal_fertility/fecundity0.73105910
97MP0002697_abnormal_eye_size0.73042533
98MP0003942_abnormal_urinary_system0.72648665
99MP0000026_abnormal_inner_ear0.71842697
100MP0002152_abnormal_brain_morphology0.71464499

Predicted human phenotypes

RankGene SetZ-score
1* Respiratory insufficiency due to defective ciliary clearance (HP:0200073)5.75118608
2Abnormal respiratory motile cilium morphology (HP:0005938)5.27261424
3Abnormal respiratory epithelium morphology (HP:0012253)5.27261424
4* Abnormal respiratory motile cilium physiology (HP:0012261)5.18323287
5Abnormal ciliary motility (HP:0012262)5.00123057
6Absent/shortened dynein arms (HP:0200106)4.64476600
7Dynein arm defect of respiratory motile cilia (HP:0012255)4.64476600
8* Rhinitis (HP:0012384)4.47714631
9Acute necrotizing encephalopathy (HP:0006965)4.47610945
10Abnormal mitochondria in muscle tissue (HP:0008316)4.14614214
11Acute encephalopathy (HP:0006846)3.94753907
12* Chronic bronchitis (HP:0004469)3.78181162
13Mitochondrial inheritance (HP:0001427)3.75474701
14Progressive macrocephaly (HP:0004481)3.45360881
15Pancreatic fibrosis (HP:0100732)3.40144876
16Increased CSF lactate (HP:0002490)3.39014390
17Increased hepatocellular lipid droplets (HP:0006565)3.26432229
18Hepatocellular necrosis (HP:0001404)3.11595385
19Abnormality of cells of the erythroid lineage (HP:0012130)3.09886922
20Lipid accumulation in hepatocytes (HP:0006561)3.05690939
21Cerebral edema (HP:0002181)3.04784532
22* Bronchiectasis (HP:0002110)3.04044398
23True hermaphroditism (HP:0010459)3.02619019
24Abnormal number of erythroid precursors (HP:0012131)2.90691030
25Reticulocytopenia (HP:0001896)2.88708342
26Pancreatic cysts (HP:0001737)2.81248462
27Molar tooth sign on MRI (HP:0002419)2.79985953
28Abnormality of midbrain morphology (HP:0002418)2.79985953
29Hepatic necrosis (HP:0002605)2.75360127
30Macrocytic anemia (HP:0001972)2.72522176
31Occipital encephalocele (HP:0002085)2.69347841
32Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.61776100
33Decreased activity of mitochondrial respiratory chain (HP:0008972)2.61776100
34Increased intramyocellular lipid droplets (HP:0012240)2.52630705
35Renal Fanconi syndrome (HP:0001994)2.44705364
36Anencephaly (HP:0002323)2.38749775
37Medial flaring of the eyebrow (HP:0010747)2.33354123
38Sclerocornea (HP:0000647)2.33299299
39Exercise intolerance (HP:0003546)2.32263490
40Increased serum lactate (HP:0002151)2.31290903
41Lactic acidosis (HP:0003128)2.30206881
42Abnormality of the labia minora (HP:0012880)2.28860310
43Aplasia/Hypoplasia of the sacrum (HP:0008517)2.28319819
44Hyperglycinemia (HP:0002154)2.19327338
45Congenital primary aphakia (HP:0007707)2.16528776
463-Methylglutaconic aciduria (HP:0003535)2.16124909
47Postaxial foot polydactyly (HP:0001830)2.13076056
48Gait imbalance (HP:0002141)2.12708946
49Birth length less than 3rd percentile (HP:0003561)2.12379640
50Increased muscle lipid content (HP:0009058)2.10751229
51Respiratory failure (HP:0002878)2.09132180
52Preaxial hand polydactyly (HP:0001177)2.09051828
53Nephronophthisis (HP:0000090)2.08646304
54Leukodystrophy (HP:0002415)2.08475867
55* Infertility (HP:0000789)2.06854163
56Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.05967307
57Nasal polyposis (HP:0100582)2.00394127
58Cystic liver disease (HP:0006706)1.99099910
59Optic disc pallor (HP:0000543)1.98210072
60Facial cleft (HP:0002006)1.97416647
61Colon cancer (HP:0003003)1.94968778
62Rib fusion (HP:0000902)1.93642808
63Abnormality of the anterior horn cell (HP:0006802)1.93163269
64Degeneration of anterior horn cells (HP:0002398)1.93163269
65Nephrogenic diabetes insipidus (HP:0009806)1.92888494
66Aplasia/Hypoplasia of the tongue (HP:0010295)1.88880601
67Myokymia (HP:0002411)1.87467249
68Pallor (HP:0000980)1.87174325
69Microvesicular hepatic steatosis (HP:0001414)1.86660900
70Increased serum pyruvate (HP:0003542)1.86163542
71Atelectasis (HP:0100750)1.85083553
72Supernumerary spleens (HP:0009799)1.84884329
73Median cleft lip (HP:0000161)1.83054536
74Respiratory difficulties (HP:0002880)1.82739396
75Male pseudohermaphroditism (HP:0000037)1.82665980
76Oculomotor apraxia (HP:0000657)1.81270437
77Horseshoe kidney (HP:0000085)1.80276789
78Abnormality of alanine metabolism (HP:0010916)1.79832039
79Hyperalaninemia (HP:0003348)1.79832039
80Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.79832039
81Vaginal atresia (HP:0000148)1.76537070
82Microretrognathia (HP:0000308)1.74653702
83Genital tract atresia (HP:0001827)1.73994628
84Abnormality of glycolysis (HP:0004366)1.73792464
85Aplastic anemia (HP:0001915)1.72755805
86Abnormality of serum amino acid levels (HP:0003112)1.69719993
87Absent rod-and cone-mediated responses on ERG (HP:0007688)1.68929346
88Lethargy (HP:0001254)1.68468448
89Type I transferrin isoform profile (HP:0003642)1.67236136
90Abnormality of renal resorption (HP:0011038)1.66074285
91Holoprosencephaly (HP:0001360)1.65917329
92Methylmalonic acidemia (HP:0002912)1.65331232
93Male infertility (HP:0003251)1.61045978
94Exertional dyspnea (HP:0002875)1.60861632
95Cleft eyelid (HP:0000625)1.59693563
96Methylmalonic aciduria (HP:0012120)1.59464217
97Postaxial hand polydactyly (HP:0001162)1.59061935
98Chronic sinusitis (HP:0011109)1.58717370
99Stenosis of the external auditory canal (HP:0000402)1.57883213
100Pendular nystagmus (HP:0012043)1.57734726

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB13.51736338
2CDC73.36206441
3VRK23.32950240
4PBK3.27552440
5STK163.08914824
6MST42.98069632
7SRPK12.90754403
8NME12.53160215
9TTK2.44417903
10MAPK152.35366263
11NME22.33290061
12BCKDK2.01855587
13TRIM281.93839209
14EIF2AK11.93544441
15ZAK1.91218687
16PDK21.77740620
17DYRK21.75855953
18DYRK31.68805174
19NEK11.67402511
20PLK41.63172651
21VRK11.61686805
22BCR1.60846197
23PLK11.60093989
24TSSK61.57228606
25MKNK11.56426115
26PLK31.47895587
27CDK191.47812596
28TNIK1.46885677
29WNK31.44305280
30WEE11.44144788
31ARAF1.38612970
32AURKA1.33610657
33MAP2K71.27097678
34TESK21.24847490
35CHEK21.19487774
36TLK11.17913851
37MAP3K91.17490203
38AURKB1.16734820
39NUAK11.11377498
40RPS6KA41.08858271
41MKNK21.08486569
42ATR1.05266064
43CASK1.02135675
44BRSK10.99692978
45CSNK1G30.99194234
46MINK10.98016496
47EPHA20.97567422
48BMPR1B0.96464016
49CSNK1G20.95727381
50LIMK10.90807633
51MAP4K20.89813042
52PNCK0.88728634
53MAP3K40.86364922
54WNK40.86328945
55BRSK20.81525403
56CSNK1G10.79119996
57CSNK2A20.79084731
58TESK10.78368490
59CHEK10.77201502
60KDR0.75445578
61PASK0.75263426
62TAF10.75073860
63NEK20.72737001
64PIM20.72125093
65CSNK1E0.71927679
66CSNK2A10.71569749
67LRRK20.71207781
68CSNK1A1L0.69408715
69PRKCI0.66321290
70RPS6KA50.64628863
71ABL20.62847699
72ATM0.61324132
73BRAF0.61219476
74CDK70.59285524
75EIF2AK30.56398404
76PRKCG0.55241280
77ALK0.54355013
78CDK80.50878923
79PAK10.50841778
80CDK20.50254394
81CCNB10.49723742
82STK40.49149546
83CDK10.47696355
84ERBB30.47557766
85INSRR0.47190965
86MAP3K120.46701039
87PINK10.46663671
88GRK10.44204643
89OXSR10.43864640
90CDK140.43702806
91RPS6KB20.43400091
92MARK10.43385847
93ILK0.42516360
94PRKDC0.39012137
95CSNK1A10.37949430
96PLK20.37461462
97CDK11A0.36504027
98DYRK1B0.35760066
99AKT20.35183791
100CDK180.33656561

Predicted pathways (KEGG)

RankGene SetZ-score
1Ribosome_Homo sapiens_hsa030104.37242962
2Oxidative phosphorylation_Homo sapiens_hsa001903.81058596
3Proteasome_Homo sapiens_hsa030503.79409159
4Parkinsons disease_Homo sapiens_hsa050123.44679610
5DNA replication_Homo sapiens_hsa030303.04419316
6Huntingtons disease_Homo sapiens_hsa050162.99553098
7Mismatch repair_Homo sapiens_hsa034302.75166000
8RNA polymerase_Homo sapiens_hsa030202.68040307
9Spliceosome_Homo sapiens_hsa030402.49224606
10Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.44671244
11Protein export_Homo sapiens_hsa030602.44500383
12Base excision repair_Homo sapiens_hsa034102.25382381
13Alzheimers disease_Homo sapiens_hsa050102.19950738
14Homologous recombination_Homo sapiens_hsa034402.16994561
15RNA transport_Homo sapiens_hsa030131.91311933
16Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.89750283
17Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.79933262
18Pyrimidine metabolism_Homo sapiens_hsa002401.74330585
19Nucleotide excision repair_Homo sapiens_hsa034201.73594478
20RNA degradation_Homo sapiens_hsa030181.71305637
21Cardiac muscle contraction_Homo sapiens_hsa042601.69065025
22Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.54357039
23Pyruvate metabolism_Homo sapiens_hsa006201.51416610
24Basal transcription factors_Homo sapiens_hsa030221.51330683
25One carbon pool by folate_Homo sapiens_hsa006701.50024093
26Fanconi anemia pathway_Homo sapiens_hsa034601.49909506
27Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.45691921
28Cysteine and methionine metabolism_Homo sapiens_hsa002701.44838074
29Non-homologous end-joining_Homo sapiens_hsa034501.40892822
30Cell cycle_Homo sapiens_hsa041101.32833336
31Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.27885814
32Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.27133596
33Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.24551868
34Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.23739361
35Purine metabolism_Homo sapiens_hsa002301.21413270
36Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.18256593
37Glutathione metabolism_Homo sapiens_hsa004801.16942916
38Propanoate metabolism_Homo sapiens_hsa006401.15785082
39Fatty acid elongation_Homo sapiens_hsa000621.11542987
40Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.02370596
41Sulfur relay system_Homo sapiens_hsa041220.99660051
42Folate biosynthesis_Homo sapiens_hsa007900.99128462
43Biosynthesis of amino acids_Homo sapiens_hsa012300.98058236
44Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.97505468
45Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.95328229
46mRNA surveillance pathway_Homo sapiens_hsa030150.94095260
47Carbon metabolism_Homo sapiens_hsa012000.92609156
48Phenylalanine metabolism_Homo sapiens_hsa003600.90764253
49Steroid biosynthesis_Homo sapiens_hsa001000.90600734
50Metabolic pathways_Homo sapiens_hsa011000.83541746
51Selenocompound metabolism_Homo sapiens_hsa004500.79987448
52Tyrosine metabolism_Homo sapiens_hsa003500.79801157
532-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.78124269
54Peroxisome_Homo sapiens_hsa041460.77454751
55beta-Alanine metabolism_Homo sapiens_hsa004100.72288177
56Chemical carcinogenesis_Homo sapiens_hsa052040.69777197
57Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.68908538
58Oocyte meiosis_Homo sapiens_hsa041140.61160598
59Arginine and proline metabolism_Homo sapiens_hsa003300.60923462
60Collecting duct acid secretion_Homo sapiens_hsa049660.59787216
61Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.59737764
62Phototransduction_Homo sapiens_hsa047440.58125350
63Nicotine addiction_Homo sapiens_hsa050330.56380686
64Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.56334250
65Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.50134390
66Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.48777670
67p53 signaling pathway_Homo sapiens_hsa041150.46716866
68Vitamin B6 metabolism_Homo sapiens_hsa007500.44556683
69Pentose and glucuronate interconversions_Homo sapiens_hsa000400.43131139
70Basal cell carcinoma_Homo sapiens_hsa052170.42633836
71Fatty acid degradation_Homo sapiens_hsa000710.42110456
72Butanoate metabolism_Homo sapiens_hsa006500.40388353
73Drug metabolism - other enzymes_Homo sapiens_hsa009830.37721046
74Retinol metabolism_Homo sapiens_hsa008300.37654615
75N-Glycan biosynthesis_Homo sapiens_hsa005100.33662634
76Cyanoamino acid metabolism_Homo sapiens_hsa004600.33513243
77Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.33033109
78Fatty acid metabolism_Homo sapiens_hsa012120.32521330
79Hedgehog signaling pathway_Homo sapiens_hsa043400.30786950
80Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.29515814
81Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.28701681
82Primary bile acid biosynthesis_Homo sapiens_hsa001200.28492520
83Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.28350337
84Vitamin digestion and absorption_Homo sapiens_hsa049770.24910220
85Pentose phosphate pathway_Homo sapiens_hsa000300.23029864
86Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.22990527
87Vibrio cholerae infection_Homo sapiens_hsa051100.22633290
88Steroid hormone biosynthesis_Homo sapiens_hsa001400.22531618
89Epstein-Barr virus infection_Homo sapiens_hsa051690.22211660
90Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.21870829
91Histidine metabolism_Homo sapiens_hsa003400.21754569
92Olfactory transduction_Homo sapiens_hsa047400.21347989
93Nitrogen metabolism_Homo sapiens_hsa009100.21182152
94Tight junction_Homo sapiens_hsa045300.20676529
95Taste transduction_Homo sapiens_hsa047420.20592096
96Hippo signaling pathway_Homo sapiens_hsa043900.20577214
97Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.20278083
98Synaptic vesicle cycle_Homo sapiens_hsa047210.20207998
99Wnt signaling pathway_Homo sapiens_hsa043100.20145475
100Alcoholism_Homo sapiens_hsa050340.19236787

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