RPSAP39

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
1ribosomal small subunit assembly (GO:0000028)6.54444504
2DNA deamination (GO:0045006)5.58089256
3mitochondrial ATP synthesis coupled proton transport (GO:0042776)5.37380069
4ATP synthesis coupled proton transport (GO:0015986)5.22780410
5energy coupled proton transport, down electrochemical gradient (GO:0015985)5.22780410
6tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)5.10940909
7RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)5.10940909
8base-excision repair, AP site formation (GO:0006285)4.65758242
9pyrimidine deoxyribonucleotide catabolic process (GO:0009223)4.55454611
10mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.44603110
11pyrimidine nucleotide catabolic process (GO:0006244)4.35698153
12regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450914.27412973
13water-soluble vitamin biosynthetic process (GO:0042364)4.15757580
14protein neddylation (GO:0045116)4.09428096
15maturation of SSU-rRNA (GO:0030490)4.08751640
16nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)4.05437899
17electron transport chain (GO:0022900)4.04945142
18respiratory electron transport chain (GO:0022904)4.03115198
19viral transcription (GO:0019083)3.89430077
20exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.88528996
21rRNA modification (GO:0000154)3.79209698
22translational termination (GO:0006415)3.77307582
23establishment of protein localization to mitochondrial membrane (GO:0090151)3.77268136
24respiratory chain complex IV assembly (GO:0008535)3.75901561
25pyrimidine deoxyribonucleotide metabolic process (GO:0009219)3.74323611
26negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.65506935
27protein complex biogenesis (GO:0070271)3.63990512
28SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.61828070
29ribosomal large subunit biogenesis (GO:0042273)3.60821334
30translational elongation (GO:0006414)3.55871514
31cotranslational protein targeting to membrane (GO:0006613)3.54834598
32protein targeting to ER (GO:0045047)3.52172955
33mitochondrial respiratory chain complex I assembly (GO:0032981)3.50780613
34NADH dehydrogenase complex assembly (GO:0010257)3.50780613
35mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.50780613
36ribosomal small subunit biogenesis (GO:0042274)3.47416863
37rRNA methylation (GO:0031167)3.45384439
38cytochrome complex assembly (GO:0017004)3.42196533
39protein localization to endoplasmic reticulum (GO:0070972)3.39668544
40DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.39329607
41regulation of cellular amino acid metabolic process (GO:0006521)3.35924058
42establishment of protein localization to endoplasmic reticulum (GO:0072599)3.35591857
43chaperone-mediated protein transport (GO:0072321)3.35218591
44negative regulation of ligase activity (GO:0051352)3.34971521
45negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.34971521
46deoxyribonucleoside triphosphate metabolic process (GO:0009200)3.34322720
47mitochondrial respiratory chain complex assembly (GO:0033108)3.33736480
48proteasome assembly (GO:0043248)3.31979708
49translation (GO:0006412)3.31476240
50DNA damage response, detection of DNA damage (GO:0042769)3.30805959
51signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.27777941
52intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.27777941
53positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.27243876
54negative regulation of telomere maintenance (GO:0032205)3.26681852
55signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.26635973
56signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.26635973
57signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.26635973
58regulation of meiosis I (GO:0060631)3.22999948
59peptidyl-histidine modification (GO:0018202)3.22412928
60deoxyribonucleotide catabolic process (GO:0009264)3.21239221
61ubiquinone biosynthetic process (GO:0006744)3.17081476
62DNA catabolic process, exonucleolytic (GO:0000738)3.16908502
63regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.16854602
64chromatin remodeling at centromere (GO:0031055)3.15260456
65DNA strand renaturation (GO:0000733)3.15146972
66signal transduction involved in DNA damage checkpoint (GO:0072422)3.12974787
67signal transduction involved in DNA integrity checkpoint (GO:0072401)3.12974787
68protein polyglutamylation (GO:0018095)3.12213304
69purine nucleoside triphosphate biosynthetic process (GO:0009145)3.12139204
70transcription elongation from RNA polymerase III promoter (GO:0006385)3.11263774
71termination of RNA polymerase III transcription (GO:0006386)3.11263774
72signal transduction involved in cell cycle checkpoint (GO:0072395)3.09767148
73translational initiation (GO:0006413)3.08977516
74CENP-A containing nucleosome assembly (GO:0034080)3.08187216
75RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)3.06491113
76maturation of 5.8S rRNA (GO:0000460)3.06167626
77pseudouridine synthesis (GO:0001522)3.04848293
782-deoxyribonucleotide metabolic process (GO:0009394)3.04273485
79behavioral response to nicotine (GO:0035095)3.04044862
80deoxyribose phosphate catabolic process (GO:0046386)3.02810810
81ATP biosynthetic process (GO:0006754)3.02264110
82DNA double-strand break processing (GO:0000729)3.00387388
83purine ribonucleoside triphosphate biosynthetic process (GO:0009206)2.98736236
84rRNA processing (GO:0006364)2.97009836
85tRNA processing (GO:0008033)2.95524654
86anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:02.93008912
87DNA replication checkpoint (GO:0000076)2.92748270
88rRNA metabolic process (GO:0016072)2.92029608
89cellular component biogenesis (GO:0044085)2.91791398
90adenosine metabolic process (GO:0046085)2.90989737
91nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)2.90697854
92iron-sulfur cluster assembly (GO:0016226)2.88731389
93metallo-sulfur cluster assembly (GO:0031163)2.88731389
94intracellular protein transmembrane import (GO:0044743)2.88116287
95GTP biosynthetic process (GO:0006183)2.87564636
96organelle disassembly (GO:1903008)2.87069115
97positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.87060071
98positive regulation of ligase activity (GO:0051351)2.86871006
99deoxyribose phosphate metabolic process (GO:0019692)2.86515418
100protein-cofactor linkage (GO:0018065)2.85605988

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human5.11526703
2GABP_17652178_ChIP-ChIP_JURKAT_Human4.79858942
3EST1_17652178_ChIP-ChIP_JURKAT_Human3.83826065
4VDR_22108803_ChIP-Seq_LS180_Human3.50819034
5JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.45275304
6HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human3.20542436
7VDR_23849224_ChIP-Seq_CD4+_Human3.04664663
8ETS1_20019798_ChIP-Seq_JURKAT_Human3.00002099
9ELF1_17652178_ChIP-ChIP_JURKAT_Human2.96393925
10SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.93307659
11MYC_18555785_ChIP-Seq_MESCs_Mouse2.82630885
12NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.64053453
13E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.56233348
14ZNF274_21170338_ChIP-Seq_K562_Hela2.54730491
15FOXP3_21729870_ChIP-Seq_TREG_Human2.48836512
16ELK1_19687146_ChIP-ChIP_HELA_Human2.42820207
17MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.35390998
18CREB1_15753290_ChIP-ChIP_HEK293T_Human2.28304869
19CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.20990876
20MYC_18358816_ChIP-ChIP_MESCs_Mouse2.14864077
21IGF1R_20145208_ChIP-Seq_DFB_Human2.14007240
22SRF_21415370_ChIP-Seq_HL-1_Mouse2.10513432
23E2F4_17652178_ChIP-ChIP_JURKAT_Human2.07524458
24PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.94946985
25NOTCH1_21737748_ChIP-Seq_TLL_Human1.91886795
26E2F7_22180533_ChIP-Seq_HELA_Human1.85200023
27EWS_26573619_Chip-Seq_HEK293_Human1.77334759
28IRF1_19129219_ChIP-ChIP_H3396_Human1.76210832
29HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.71821965
30POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.71394817
31MYC_19030024_ChIP-ChIP_MESCs_Mouse1.70365492
32YY1_21170310_ChIP-Seq_MESCs_Mouse1.69508420
33CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.68618048
34GABP_19822575_ChIP-Seq_HepG2_Human1.67538227
35FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.65010555
36TTF2_22483619_ChIP-Seq_HELA_Human1.62950760
37EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.60373707
38EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.60349034
39MYC_18940864_ChIP-ChIP_HL60_Human1.56875228
40HOXB4_20404135_ChIP-ChIP_EML_Mouse1.54585096
41HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.49934465
42IRF8_22096565_ChIP-ChIP_GC-B_Human1.49629928
43BP1_19119308_ChIP-ChIP_Hs578T_Human1.47814435
44CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.46191439
45E2F1_18555785_ChIP-Seq_MESCs_Mouse1.45631786
46PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.45271799
47FLI1_27457419_Chip-Seq_LIVER_Mouse1.42749971
48DCP1A_22483619_ChIP-Seq_HELA_Human1.40537856
49TP53_22573176_ChIP-Seq_HFKS_Human1.39621467
50ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.38463795
51THAP11_20581084_ChIP-Seq_MESCs_Mouse1.37114848
52MYC_19079543_ChIP-ChIP_MESCs_Mouse1.34461752
53FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.30294078
54XRN2_22483619_ChIP-Seq_HELA_Human1.27456373
55SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.24454452
56FUS_26573619_Chip-Seq_HEK293_Human1.23350503
57TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.22750953
58PADI4_21655091_ChIP-ChIP_MCF-7_Human1.20474459
59FOXA1_25329375_ChIP-Seq_VCAP_Human1.20089518
60FOXA1_27270436_Chip-Seq_PROSTATE_Human1.20089518
61IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.17056748
62GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.15190019
63AR_20517297_ChIP-Seq_VCAP_Human1.13853770
64FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.13517310
65PCGF2_27294783_Chip-Seq_ESCs_Mouse1.12956613
66CIITA_25753668_ChIP-Seq_RAJI_Human1.12729932
67NCOR_22424771_ChIP-Seq_293T_Human1.10536059
68MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.08299039
69CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.07915864
70ELK1_22589737_ChIP-Seq_MCF10A_Human1.07587532
71TAF15_26573619_Chip-Seq_HEK293_Human1.03877777
72AUTS2_25519132_ChIP-Seq_293T-REX_Human1.02383026
73ETV2_25802403_ChIP-Seq_MESCs_Mouse1.02276473
74GATA3_21878914_ChIP-Seq_MCF-7_Human1.02132980
75TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.00985460
76ER_23166858_ChIP-Seq_MCF-7_Human0.99648794
77MYBL2_22936984_ChIP-ChIP_MESCs_Mouse0.99644308
78FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.99428234
79ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.98864594
80NANOG_19829295_ChIP-Seq_ESCs_Human0.96982352
81SOX2_19829295_ChIP-Seq_ESCs_Human0.96982352
82EGR1_23403033_ChIP-Seq_LIVER_Mouse0.96226330
83RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.95553896
84GATA3_26560356_Chip-Seq_TH2_Human0.94379887
85PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse0.94338350
86TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human0.94077829
87YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.93812669
88GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.93658356
89HOXB7_26014856_ChIP-Seq_BT474_Human0.92182566
90CTBP1_25329375_ChIP-Seq_LNCAP_Human0.91533045
91EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.91396683
92FOXA1_21572438_ChIP-Seq_LNCaP_Human0.90879799
93NANOG_20526341_ChIP-Seq_ESCs_Human0.90281730
94TDRD3_21172665_ChIP-Seq_MCF-7_Human0.90047360
95KDM5A_27292631_Chip-Seq_BREAST_Human0.89690236
96SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.89149344
97CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.88953568
98ERG_20517297_ChIP-Seq_VCAP_Human0.88509338
99FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human0.88170458
100PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.87229452

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003806_abnormal_nucleotide_metabolis4.67804385
2MP0002138_abnormal_hepatobiliary_system4.03995031
3MP0008058_abnormal_DNA_repair3.23828705
4MP0006292_abnormal_olfactory_placode3.23483613
5MP0009379_abnormal_foot_pigmentation2.96741740
6MP0005671_abnormal_response_to2.79773269
7MP0005084_abnormal_gallbladder_morpholo2.70716333
8MP0000372_irregular_coat_pigmentation2.21266661
9MP0008872_abnormal_physiological_respon2.19403797
10MP0002837_dystrophic_cardiac_calcinosis2.12890290
11MP0001968_abnormal_touch/_nociception2.09267934
12MP0002102_abnormal_ear_morphology2.06901060
13MP0010094_abnormal_chromosome_stability1.89777860
14MP0004742_abnormal_vestibular_system1.83982710
15MP0001485_abnormal_pinna_reflex1.82649038
16MP0003786_premature_aging1.81802891
17MP0008877_abnormal_DNA_methylation1.80812322
18MP0004145_abnormal_muscle_electrophysio1.74791910
19MP0008875_abnormal_xenobiotic_pharmacok1.73244358
20MP0003186_abnormal_redox_activity1.66623825
21MP0002736_abnormal_nociception_after1.66382402
22MP0005075_abnormal_melanosome_morpholog1.66127750
23MP0006072_abnormal_retinal_apoptosis1.63913207
24MP0001529_abnormal_vocalization1.57508144
25MP0001835_abnormal_antigen_presentation1.57404612
26MP0003646_muscle_fatigue1.56676525
27MP0004885_abnormal_endolymph1.54873009
28MP0006276_abnormal_autonomic_nervous1.53219345
29MP0008007_abnormal_cellular_replicative1.52538905
30MP0001986_abnormal_taste_sensitivity1.37642646
31MP0009785_altered_susceptibility_to1.37633171
32MP0004142_abnormal_muscle_tone1.37470993
33MP0003718_maternal_effect1.36001743
34MP0004957_abnormal_blastocyst_morpholog1.35197217
35MP0000685_abnormal_immune_system1.33015504
36MP0002006_tumorigenesis1.31812170
37MP0002733_abnormal_thermal_nociception1.31256565
38MP0005645_abnormal_hypothalamus_physiol1.29705841
39MP0002148_abnormal_hypersensitivity_rea1.26926312
40MP0004147_increased_porphyrin_level1.23348733
41MP0002160_abnormal_reproductive_system1.20781000
42MP0005551_abnormal_eye_electrophysiolog1.19889101
43MP0001293_anophthalmia1.19053183
44MP0005389_reproductive_system_phenotype1.18974268
45MP0001905_abnormal_dopamine_level1.18645972
46MP0006036_abnormal_mitochondrial_physio1.18615323
47MP0006035_abnormal_mitochondrial_morpho1.17487344
48MP0002277_abnormal_respiratory_mucosa1.15585582
49MP0003011_delayed_dark_adaptation1.15127459
50MP0005387_immune_system_phenotype1.14837692
51MP0001790_abnormal_immune_system1.14837692
52MP0005379_endocrine/exocrine_gland_phen1.14070474
53MP0003866_abnormal_defecation1.13167058
54MP0001764_abnormal_homeostasis1.12940239
55MP0005646_abnormal_pituitary_gland1.12547958
56MP0002638_abnormal_pupillary_reflex1.09044718
57MP0002234_abnormal_pharynx_morphology1.06898988
58MP0002166_altered_tumor_susceptibility1.05721797
59MP0002653_abnormal_ependyma_morphology1.05053480
60MP0010386_abnormal_urinary_bladder1.03668829
61MP0004043_abnormal_pH_regulation1.02861197
62MP0001970_abnormal_pain_threshold1.01854016
63MP0001800_abnormal_humoral_immune0.97542250
64MP0008775_abnormal_heart_ventricle0.94516799
65MP0001929_abnormal_gametogenesis0.93627814
66MP0001188_hyperpigmentation0.93387494
67MP0009745_abnormal_behavioral_response0.90967033
68MP0002938_white_spotting0.90955282
69MP0009333_abnormal_splenocyte_physiolog0.90712305
70MP0003936_abnormal_reproductive_system0.90559073
71MP0001919_abnormal_reproductive_system0.89943229
72MP0002210_abnormal_sex_determination0.88903876
73MP0003111_abnormal_nucleus_morphology0.88889550
74MP0008789_abnormal_olfactory_epithelium0.86932265
75MP0002095_abnormal_skin_pigmentation0.86491286
76MP0005636_abnormal_mineral_homeostasis0.86394647
77MP0003567_abnormal_fetal_cardiomyocyte0.86344098
78MP0004215_abnormal_myocardial_fiber0.86228972
79MP0000569_abnormal_digit_pigmentation0.85036407
80MP0003693_abnormal_embryo_hatching0.84991029
81MP0000427_abnormal_hair_cycle0.84184628
82MP0005174_abnormal_tail_pigmentation0.84085702
83MP0005253_abnormal_eye_physiology0.83745795
84MP0003878_abnormal_ear_physiology0.79537146
85MP0005377_hearing/vestibular/ear_phenot0.79537146
86MP0000631_abnormal_neuroendocrine_gland0.79356112
87MP0002163_abnormal_gland_morphology0.77972220
88MP0003137_abnormal_impulse_conducting0.77643941
89MP0003195_calcinosis0.77223533
90MP0008995_early_reproductive_senescence0.76085195
91MP0005410_abnormal_fertilization0.75630823
92MP0005394_taste/olfaction_phenotype0.74697604
93MP0005499_abnormal_olfactory_system0.74697604
94MP0002272_abnormal_nervous_system0.74469816
95MP0001145_abnormal_male_reproductive0.74425236
96MP0003252_abnormal_bile_duct0.72522123
97MP0000049_abnormal_middle_ear0.71958764
98MP0000613_abnormal_salivary_gland0.71832763
99MP0000653_abnormal_sex_gland0.71721461
100MP0009764_decreased_sensitivity_to0.69651846

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)5.02064290
2Acute encephalopathy (HP:0006846)4.56988390
3Abnormal mitochondria in muscle tissue (HP:0008316)4.49106107
4Mitochondrial inheritance (HP:0001427)4.38697136
5Hepatocellular necrosis (HP:0001404)4.32195521
6Increased CSF lactate (HP:0002490)4.14080693
73-Methylglutaconic aciduria (HP:0003535)4.13260178
8Progressive macrocephaly (HP:0004481)4.11827921
9Hepatic necrosis (HP:0002605)4.11349147
10Abnormality of alanine metabolism (HP:0010916)3.88869283
11Hyperalaninemia (HP:0003348)3.88869283
12Abnormality of pyruvate family amino acid metabolism (HP:0010915)3.88869283
13Aplastic anemia (HP:0001915)3.41735475
14Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.38346291
15Decreased activity of mitochondrial respiratory chain (HP:0008972)3.38346291
16Congenital, generalized hypertrichosis (HP:0004540)3.35302510
17Pancreatic cysts (HP:0001737)3.29922782
18Cerebral edema (HP:0002181)3.16772122
19Increased serum lactate (HP:0002151)3.13143590
20Congenital stationary night blindness (HP:0007642)3.01793884
21Abnormality of midbrain morphology (HP:0002418)2.96567872
22Molar tooth sign on MRI (HP:0002419)2.96567872
23Pancreatic fibrosis (HP:0100732)2.95141398
24True hermaphroditism (HP:0010459)2.86219989
25Lactic acidosis (HP:0003128)2.81271961
26Increased hepatocellular lipid droplets (HP:0006565)2.76312921
27Reticulocytopenia (HP:0001896)2.76294235
28Hyperglycinemia (HP:0002154)2.74367330
29Optic disc pallor (HP:0000543)2.69419082
30Pendular nystagmus (HP:0012043)2.61944117
31Abnormality of the renal cortex (HP:0011035)2.59006322
32Type II lissencephaly (HP:0007260)2.58554878
33Dry hair (HP:0011359)2.57335523
34Nephronophthisis (HP:0000090)2.49956974
35Abnormality of serum amino acid levels (HP:0003112)2.49301381
36Pancytopenia (HP:0001876)2.48071686
37Methylmalonic aciduria (HP:0012120)2.43980247
38Absent rod-and cone-mediated responses on ERG (HP:0007688)2.42702243
39Type I transferrin isoform profile (HP:0003642)2.42476607
40Methylmalonic acidemia (HP:0002912)2.41856255
41Respiratory failure (HP:0002878)2.40235672
42Lipid accumulation in hepatocytes (HP:0006561)2.39989272
43Elevated erythrocyte sedimentation rate (HP:0003565)2.33846347
44Abnormal biliary tract physiology (HP:0012439)2.33585472
45Bile duct proliferation (HP:0001408)2.33585472
46Leukodystrophy (HP:0002415)2.32872089
47Lethargy (HP:0001254)2.31391631
48Colon cancer (HP:0003003)2.30758895
49Abnormal rod and cone electroretinograms (HP:0008323)2.24418853
50Increased intramyocellular lipid droplets (HP:0012240)2.18267189
51Renal cortical cysts (HP:0000803)2.17856934
52Exercise intolerance (HP:0003546)2.15351549
53Abnormality of the renal medulla (HP:0100957)2.12216885
54Microvesicular hepatic steatosis (HP:0001414)2.12086482
55Abnormality of the axillary hair (HP:0100134)2.11127465
56Abnormality of secondary sexual hair (HP:0009888)2.11127465
57Macrocytic anemia (HP:0001972)2.10226768
58Delayed CNS myelination (HP:0002188)2.09591834
59Abnormal glycosylation (HP:0012345)2.05804543
60Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.05804543
61Abnormal protein N-linked glycosylation (HP:0012347)2.05804543
62Abnormal protein glycosylation (HP:0012346)2.05804543
63Generalized aminoaciduria (HP:0002909)2.05312535
64Decreased electroretinogram (ERG) amplitude (HP:0000654)2.04185788
65Panhypogammaglobulinemia (HP:0003139)2.01235325
66Asplenia (HP:0001746)2.00416062
67Absent thumb (HP:0009777)2.00299308
68Tubular atrophy (HP:0000092)1.99082151
69Hypomagnesemia (HP:0002917)1.98709630
70IgG deficiency (HP:0004315)1.97570476
71Aplasia/Hypoplasia of the spleen (HP:0010451)1.97536362
72CNS demyelination (HP:0007305)1.97213174
73Renal Fanconi syndrome (HP:0001994)1.96859852
74Abolished electroretinogram (ERG) (HP:0000550)1.96458265
75Pallor (HP:0000980)1.91858756
76Supernumerary spleens (HP:0009799)1.91653683
77Muscle abnormality related to mitochondrial dysfunction (HP:0003800)1.91155689
78Sclerocornea (HP:0000647)1.89283249
79Dicarboxylic aciduria (HP:0003215)1.88535542
80Abnormality of dicarboxylic acid metabolism (HP:0010995)1.88535542
81Abnormality of aspartate family amino acid metabolism (HP:0010899)1.88329108
82Hypoproteinemia (HP:0003075)1.87219177
83Abnormality of magnesium homeostasis (HP:0004921)1.87091049
84Aplasia/hypoplasia of the uterus (HP:0008684)1.85215816
85Birth length less than 3rd percentile (HP:0003561)1.85173151
86Abnormality of cells of the erythroid lineage (HP:0012130)1.84680003
87Severe combined immunodeficiency (HP:0004430)1.84512564
88Male pseudohermaphroditism (HP:0000037)1.84163383
89Fair hair (HP:0002286)1.81416114
90Polyuria (HP:0000103)1.81250475
91Progressive microcephaly (HP:0000253)1.80334689
92Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)1.79833491
93Hypoplasia of the uterus (HP:0000013)1.79247057
94Abnormal drinking behavior (HP:0030082)1.78335901
95Polydipsia (HP:0001959)1.78335901
96Hypoplasia of the pons (HP:0012110)1.77812654
97Exertional dyspnea (HP:0002875)1.77695532
98Cystic liver disease (HP:0006706)1.77059122
99Constricted visual fields (HP:0001133)1.77034644
100Respiratory difficulties (HP:0002880)1.76478779

Predicted kinase interactions (KEA)

RankGene SetZ-score
1VRK23.73606960
2TAOK33.67000050
3TLK13.43073173
4TRIM282.64145580
5WNK32.62313396
6NUAK12.55631825
7BUB12.48570007
8ZAK2.39790571
9VRK12.31470747
10TAF12.29208249
11MST42.28104238
12ADRBK22.26488133
13NEK12.13624982
14WNK41.92904471
15PDK21.90901680
16CDC71.74936459
17FRK1.70923556
18STK161.61469839
19GRK11.56307975
20MAP3K121.56007990
21TXK1.51249064
22PINK11.45846006
23SIK21.44514856
24PHKG11.32547390
25PHKG21.32547390
26EIF2AK31.23395124
27SCYL21.21082221
28EIF2AK11.17927578
29TEC1.11860037
30PLK31.08897033
31MAP4K21.08651323
32NEK21.07740328
33BCKDK1.07682487
34DAPK11.06723214
35KDR1.03821121
36SRPK11.02558987
37CAMKK21.02020396
38CSNK1G31.01183300
39BMPR1B0.99729970
40TSSK60.99383088
41MYLK0.99130442
42PASK0.95961041
43ATR0.95248711
44PLK10.91033187
45CDK80.90406193
46PLK40.88757730
47FLT30.88754239
48DYRK20.86066811
49CSNK1G10.84392660
50ITK0.84339284
51PBK0.84169581
52TTK0.82076448
53STK390.81530571
54CSNK1A1L0.76693131
55MAP4K10.75433212
56AURKA0.74795950
57TNIK0.74214354
58NME10.73499977
59CSNK1G20.72504392
60DAPK30.72479491
61FES0.69010832
62ERBB30.68599200
63EIF2AK20.68135572
64PLK20.66421229
65TIE10.66085408
66AURKB0.62947414
67ADRBK10.61467386
68PRKCQ0.61218633
69SYK0.60300296
70PTK2B0.59283958
71BCR0.59185350
72INSRR0.59083241
73MKNK10.58321787
74OXSR10.56512389
75RPS6KA50.56325146
76GRK70.54073900
77IKBKB0.53843373
78CSNK2A10.51386332
79CSF1R0.51064972
80PRKCG0.50192384
81CSNK2A20.49657485
82STK40.47673484
83GRK50.47632588
84LYN0.47239902
85PIK3CG0.46088253
86MKNK20.45458410
87DAPK20.43073266
88PIK3CA0.42985637
89STK30.41625469
90CSNK1A10.40452965
91STK38L0.40302119
92MAPK130.39629215
93CCNB10.39545874
94BRSK10.39410937
95CHEK20.39345892
96STK240.38299900
97ATM0.38297897
98TGFBR10.37687947
99WEE10.36629586
100PRKCA0.36302440

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030504.13204339
2Ribosome_Homo sapiens_hsa030103.85981757
3Oxidative phosphorylation_Homo sapiens_hsa001903.57973833
4Parkinsons disease_Homo sapiens_hsa050123.02444374
5Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.50374057
6RNA polymerase_Homo sapiens_hsa030202.35591967
7Homologous recombination_Homo sapiens_hsa034402.29575305
8Asthma_Homo sapiens_hsa053102.25332289
9Intestinal immune network for IgA production_Homo sapiens_hsa046722.23295413
10Protein export_Homo sapiens_hsa030602.21056780
11Huntingtons disease_Homo sapiens_hsa050162.10252881
12Mismatch repair_Homo sapiens_hsa034302.06527417
13Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.01144142
14Base excision repair_Homo sapiens_hsa034101.97985109
15Non-homologous end-joining_Homo sapiens_hsa034501.95607950
16Alzheimers disease_Homo sapiens_hsa050101.89517830
17Primary immunodeficiency_Homo sapiens_hsa053401.89242340
18Allograft rejection_Homo sapiens_hsa053301.82408773
19RNA degradation_Homo sapiens_hsa030181.79754727
20One carbon pool by folate_Homo sapiens_hsa006701.75878259
21Autoimmune thyroid disease_Homo sapiens_hsa053201.67970554
22DNA replication_Homo sapiens_hsa030301.65118827
23Graft-versus-host disease_Homo sapiens_hsa053321.62143385
24Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.59711417
25Type I diabetes mellitus_Homo sapiens_hsa049401.55352325
26Fanconi anemia pathway_Homo sapiens_hsa034601.55122891
27Pyrimidine metabolism_Homo sapiens_hsa002401.53288259
28Nitrogen metabolism_Homo sapiens_hsa009101.53146999
29Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.52600892
30Propanoate metabolism_Homo sapiens_hsa006401.42713239
31RNA transport_Homo sapiens_hsa030131.35623807
32Antigen processing and presentation_Homo sapiens_hsa046121.33719724
33Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.30088623
34Nucleotide excision repair_Homo sapiens_hsa034201.27997907
35Peroxisome_Homo sapiens_hsa041461.26097879
36Basal transcription factors_Homo sapiens_hsa030221.24199625
37Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.21069925
38Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.19848804
39Purine metabolism_Homo sapiens_hsa002301.18521265
40Cardiac muscle contraction_Homo sapiens_hsa042601.17066965
41Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.15470329
42Folate biosynthesis_Homo sapiens_hsa007901.12946857
43Sulfur metabolism_Homo sapiens_hsa009201.10269014
44Pyruvate metabolism_Homo sapiens_hsa006201.08760042
45Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.08464502
46Spliceosome_Homo sapiens_hsa030401.07829317
47Cysteine and methionine metabolism_Homo sapiens_hsa002701.07738781
48Phototransduction_Homo sapiens_hsa047441.01116950
49Systemic lupus erythematosus_Homo sapiens_hsa053220.96678477
50Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.93212851
51Tryptophan metabolism_Homo sapiens_hsa003800.91171051
52alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.89600681
53Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.88559135
54Hematopoietic cell lineage_Homo sapiens_hsa046400.87025164
55Rheumatoid arthritis_Homo sapiens_hsa053230.86960026
56Linoleic acid metabolism_Homo sapiens_hsa005910.85899279
57Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.81146694
58Butanoate metabolism_Homo sapiens_hsa006500.81027807
59Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.76060950
60SNARE interactions in vesicular transport_Homo sapiens_hsa041300.73085879
61Metabolic pathways_Homo sapiens_hsa011000.70146889
62Regulation of autophagy_Homo sapiens_hsa041400.69542493
63Sulfur relay system_Homo sapiens_hsa041220.69380963
642-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.66112761
65Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.62430470
66Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.61340328
67Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.61061528
68Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.59935882
69Collecting duct acid secretion_Homo sapiens_hsa049660.59536368
70Viral myocarditis_Homo sapiens_hsa054160.56076897
71Caffeine metabolism_Homo sapiens_hsa002320.54596822
72Fat digestion and absorption_Homo sapiens_hsa049750.52606911
73Fatty acid elongation_Homo sapiens_hsa000620.51937064
74Olfactory transduction_Homo sapiens_hsa047400.50980448
75Arachidonic acid metabolism_Homo sapiens_hsa005900.50187662
76Steroid biosynthesis_Homo sapiens_hsa001000.48289496
77Chemical carcinogenesis_Homo sapiens_hsa052040.47960922
78Drug metabolism - other enzymes_Homo sapiens_hsa009830.47710006
79Glutathione metabolism_Homo sapiens_hsa004800.47453604
80Retinol metabolism_Homo sapiens_hsa008300.43291736
81Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.42833362
82p53 signaling pathway_Homo sapiens_hsa041150.42383094
83Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.42213851
84Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.38366052
85Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.38143486
86beta-Alanine metabolism_Homo sapiens_hsa004100.36584617
87Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.35565534
88Pentose and glucuronate interconversions_Homo sapiens_hsa000400.35032607
89Arginine and proline metabolism_Homo sapiens_hsa003300.34057817
90Cell cycle_Homo sapiens_hsa041100.33164680
91Taste transduction_Homo sapiens_hsa047420.31273628
92Epstein-Barr virus infection_Homo sapiens_hsa051690.29822805
93Staphylococcus aureus infection_Homo sapiens_hsa051500.27767060
94Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.27494069
95Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.27047967
96mRNA surveillance pathway_Homo sapiens_hsa030150.26656543
97Carbon metabolism_Homo sapiens_hsa012000.26309206
98Selenocompound metabolism_Homo sapiens_hsa004500.26272428
99Maturity onset diabetes of the young_Homo sapiens_hsa049500.24899954
100Steroid hormone biosynthesis_Homo sapiens_hsa001400.24727519

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