RPSAP53

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)7.32432076
2mitochondrial ATP synthesis coupled proton transport (GO:0042776)5.80401861
3energy coupled proton transport, down electrochemical gradient (GO:0015985)5.55218662
4ATP synthesis coupled proton transport (GO:0015986)5.55218662
5viral transcription (GO:0019083)5.17596992
6translational termination (GO:0006415)4.99625335
7maturation of SSU-rRNA (GO:0030490)4.90556689
8SRP-dependent cotranslational protein targeting to membrane (GO:0006614)4.79557406
9establishment of protein localization to mitochondrial membrane (GO:0090151)4.70901756
10cotranslational protein targeting to membrane (GO:0006613)4.70614297
11protein targeting to ER (GO:0045047)4.66245327
12DNA deamination (GO:0045006)4.64986535
13ribosomal large subunit biogenesis (GO:0042273)4.62057597
14translational elongation (GO:0006414)4.57417003
15mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.50016810
16proteasome assembly (GO:0043248)4.47918273
17establishment of protein localization to endoplasmic reticulum (GO:0072599)4.45028948
18protein localization to endoplasmic reticulum (GO:0070972)4.42305911
19chaperone-mediated protein transport (GO:0072321)4.33410322
20respiratory electron transport chain (GO:0022904)4.31567642
21electron transport chain (GO:0022900)4.22546328
22protein complex biogenesis (GO:0070271)4.22023211
23ribosomal small subunit biogenesis (GO:0042274)4.09749609
24regulation of mitochondrial translation (GO:0070129)4.05848420
25translational initiation (GO:0006413)4.02329941
26mitochondrial respiratory chain complex assembly (GO:0033108)4.00351058
27NADH dehydrogenase complex assembly (GO:0010257)3.99960363
28mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.99960363
29mitochondrial respiratory chain complex I assembly (GO:0032981)3.99960363
30transcription elongation from RNA polymerase III promoter (GO:0006385)3.96856367
31termination of RNA polymerase III transcription (GO:0006386)3.96856367
32translation (GO:0006412)3.96374795
33viral life cycle (GO:0019058)3.83861147
34protein neddylation (GO:0045116)3.75851432
35peptidyl-histidine modification (GO:0018202)3.74608440
36nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.67497071
37cellular protein complex disassembly (GO:0043624)3.67246777
38negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.62474552
39RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.62124062
40tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.62124062
41respiratory chain complex IV assembly (GO:0008535)3.62033793
42exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.57560787
43nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.56910203
44pseudouridine synthesis (GO:0001522)3.50100185
45cytochrome complex assembly (GO:0017004)3.37986441
46positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.37520692
47protein-cofactor linkage (GO:0018065)3.34786159
48negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.34042234
49negative regulation of ligase activity (GO:0051352)3.34042234
50regulation of cellular amino acid metabolic process (GO:0006521)3.31962170
51regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.29874780
52cellular component biogenesis (GO:0044085)3.28621059
53CENP-A containing nucleosome assembly (GO:0034080)3.26203410
54DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.23881930
55chromatin remodeling at centromere (GO:0031055)3.22553920
56signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.21579785
57signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.21579785
58signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.21579785
59protein targeting to mitochondrion (GO:0006626)3.17329610
60intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.15073043
61signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.15073043
62rRNA processing (GO:0006364)3.13664055
63signal transduction involved in DNA damage checkpoint (GO:0072422)3.10784651
64signal transduction involved in DNA integrity checkpoint (GO:0072401)3.10784651
65rRNA metabolic process (GO:0016072)3.06903776
66ribonucleoprotein complex biogenesis (GO:0022613)3.06109594
67anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.05942844
68purine nucleoside triphosphate biosynthetic process (GO:0009145)3.04564118
69formation of translation preinitiation complex (GO:0001731)3.04262412
70protein targeting to membrane (GO:0006612)3.03954412
71rRNA modification (GO:0000154)3.03786089
72protein complex disassembly (GO:0043241)3.03745828
73signal transduction involved in cell cycle checkpoint (GO:0072395)3.02895758
74protein deneddylation (GO:0000338)3.02871668
75regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450913.02398735
76establishment of protein localization to mitochondrion (GO:0072655)3.01730408
77ATP biosynthetic process (GO:0006754)3.01667140
78purine ribonucleoside triphosphate biosynthetic process (GO:0009206)3.00896532
79platelet dense granule organization (GO:0060155)3.00854182
80GTP biosynthetic process (GO:0006183)2.98456275
81cullin deneddylation (GO:0010388)2.98253305
82water-soluble vitamin biosynthetic process (GO:0042364)2.96469222
83nuclear-transcribed mRNA catabolic process (GO:0000956)2.94468459
84response to interferon-beta (GO:0035456)2.93915873
85maturation of 5.8S rRNA (GO:0000460)2.93616696
86macromolecular complex disassembly (GO:0032984)2.90720831
87spliceosomal snRNP assembly (GO:0000387)2.90415776
88oxidative phosphorylation (GO:0006119)2.89108677
89protein localization to mitochondrion (GO:0070585)2.88042388
90mannosylation (GO:0097502)2.87792386
91GPI anchor biosynthetic process (GO:0006506)2.85357291
92viral mRNA export from host cell nucleus (GO:0046784)2.85061613
93positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.83845636
94pyrimidine nucleoside triphosphate metabolic process (GO:0009147)2.83640454
95pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)2.82233773
96ribonucleoside triphosphate biosynthetic process (GO:0009201)2.80878245
97guanosine-containing compound biosynthetic process (GO:1901070)2.80034595
98hydrogen ion transmembrane transport (GO:1902600)2.79963993
99preassembly of GPI anchor in ER membrane (GO:0016254)2.79758828
100pyrimidine deoxyribonucleotide catabolic process (GO:0009223)2.78873210

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.99214822
2GABP_17652178_ChIP-ChIP_JURKAT_Human4.76898470
3EST1_17652178_ChIP-ChIP_JURKAT_Human4.25468111
4MYC_18555785_ChIP-Seq_MESCs_Mouse3.58874682
5JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.55127571
6SOX9_22984422_ChIP-ChIP_TESTIS_Rat3.55036895
7ETS1_20019798_ChIP-Seq_JURKAT_Human3.37153313
8ELF1_17652178_ChIP-ChIP_JURKAT_Human3.36423788
9VDR_23849224_ChIP-Seq_CD4+_Human3.10381200
10HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human3.08275862
11CREB1_15753290_ChIP-ChIP_HEK293T_Human3.01277940
12E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.99856118
13NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.97512738
14CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.95128971
15E2F7_22180533_ChIP-Seq_HELA_Human2.76428566
16FOXP3_21729870_ChIP-Seq_TREG_Human2.74631551
17ELK1_19687146_ChIP-ChIP_HELA_Human2.58302976
18MYC_18358816_ChIP-ChIP_MESCs_Mouse2.47333207
19EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.41798219
20E2F4_17652178_ChIP-ChIP_JURKAT_Human2.38040890
21HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.35870657
22SRF_21415370_ChIP-Seq_HL-1_Mouse2.26698383
23MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.23618459
24PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.18206207
25MYC_19030024_ChIP-ChIP_MESCs_Mouse2.17858491
26MYC_19079543_ChIP-ChIP_MESCs_Mouse2.15331693
27TTF2_22483619_ChIP-Seq_HELA_Human2.15178689
28DCP1A_22483619_ChIP-Seq_HELA_Human2.11875205
29MYC_18940864_ChIP-ChIP_HL60_Human1.98568303
30E2F1_18555785_ChIP-Seq_MESCs_Mouse1.98190356
31FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.88536218
32HOXB4_20404135_ChIP-ChIP_EML_Mouse1.84981914
33XRN2_22483619_ChIP-Seq_HELA_Human1.83246418
34VDR_22108803_ChIP-Seq_LS180_Human1.78210372
35FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.75957418
36ZNF274_21170338_ChIP-Seq_K562_Hela1.73503059
37PADI4_21655091_ChIP-ChIP_MCF-7_Human1.68601407
38THAP11_20581084_ChIP-Seq_MESCs_Mouse1.67097952
39GABP_19822575_ChIP-Seq_HepG2_Human1.67090762
40FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.65336416
41PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.64741030
42SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.61611877
43NOTCH1_21737748_ChIP-Seq_TLL_Human1.60681542
44HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.49067481
45YY1_21170310_ChIP-Seq_MESCs_Mouse1.48135681
46NELFA_20434984_ChIP-Seq_ESCs_Mouse1.46655026
47POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.44658139
48FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.44610132
49ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.43793247
50CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.36870099
51IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.36679534
52FLI1_27457419_Chip-Seq_LIVER_Mouse1.34977032
53TP53_22573176_ChIP-Seq_HFKS_Human1.34753228
54CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.33782307
55EWS_26573619_Chip-Seq_HEK293_Human1.32505067
56TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.27762200
57IRF1_19129219_ChIP-ChIP_H3396_Human1.23370715
58CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.22545665
59CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.16084063
60MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.15072163
61ELK1_22589737_ChIP-Seq_MCF10A_Human1.14892697
62BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.13823768
63CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human1.13621441
64EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.10975422
65CIITA_25753668_ChIP-Seq_RAJI_Human1.10728404
66MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.09457389
67ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.08980750
68E2F1_21310950_ChIP-Seq_MCF-7_Human1.05139196
69YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.04357768
70NANOG_16153702_ChIP-ChIP_HESCs_Human1.04335834
71AR_20517297_ChIP-Seq_VCAP_Human1.01558136
72KDM5A_27292631_Chip-Seq_BREAST_Human1.00775568
73FOXA1_27270436_Chip-Seq_PROSTATE_Human1.00455330
74FOXA1_25329375_ChIP-Seq_VCAP_Human1.00455330
75ERG_20887958_ChIP-Seq_HPC-7_Mouse1.00000806
76FUS_26573619_Chip-Seq_HEK293_Human0.99481467
77PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse0.99335868
78POU5F1_18555785_ChIP-Seq_MESCs_Mouse0.98328145
79MYCN_18555785_ChIP-Seq_MESCs_Mouse0.96514502
80FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.96254304
81ZFX_18555785_ChIP-Seq_MESCs_Mouse0.95250802
82E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.92149460
83SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.91990816
84SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.91323935
85NANOG_18555785_ChIP-Seq_MESCs_Mouse0.90950660
86GATA3_26560356_Chip-Seq_TH2_Human0.89930238
87POU5F1_16153702_ChIP-ChIP_HESCs_Human0.88144140
88PCGF2_27294783_Chip-Seq_ESCs_Mouse0.87791815
89SPI1_23547873_ChIP-Seq_NB4_Human0.87759989
90ERG_20517297_ChIP-Seq_VCAP_Human0.86630795
91TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.86126919
92SOX2_16153702_ChIP-ChIP_HESCs_Human0.81104435
93NANOG_19829295_ChIP-Seq_ESCs_Human0.79708308
94SOX2_19829295_ChIP-Seq_ESCs_Human0.79708308
95HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.79413710
96GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.79350066
97ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.78973844
98MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.78850060
99IRF8_22096565_ChIP-ChIP_GC-B_Human0.78459028
100EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.76756093

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0009379_abnormal_foot_pigmentation3.99298298
2MP0006292_abnormal_olfactory_placode3.26693231
3MP0002837_dystrophic_cardiac_calcinosis3.05655123
4MP0003806_abnormal_nucleotide_metabolis2.96188874
5MP0005084_abnormal_gallbladder_morpholo2.78148636
6MP0002102_abnormal_ear_morphology2.73544475
7MP0006072_abnormal_retinal_apoptosis2.66288343
8MP0003693_abnormal_embryo_hatching2.50261730
9MP0008058_abnormal_DNA_repair2.36226449
10MP0001835_abnormal_antigen_presentation2.29032398
11MP0005671_abnormal_response_to2.23544574
12MP0008057_abnormal_DNA_replication2.21896679
13MP0005075_abnormal_melanosome_morpholog2.20753006
14MP0008877_abnormal_DNA_methylation2.15617819
15MP0002138_abnormal_hepatobiliary_system2.13677026
16MP0004957_abnormal_blastocyst_morpholog2.08721907
17MP0002277_abnormal_respiratory_mucosa2.08695050
18MP0003786_premature_aging2.07513437
19MP0006036_abnormal_mitochondrial_physio1.98137794
20MP0003283_abnormal_digestive_organ1.91420409
21MP0003186_abnormal_redox_activity1.89128791
22MP0000372_irregular_coat_pigmentation1.87450016
23MP0010094_abnormal_chromosome_stability1.85675403
24MP0003011_delayed_dark_adaptation1.77038899
25MP0008872_abnormal_physiological_respon1.73790047
26MP0009333_abnormal_splenocyte_physiolog1.73151462
27MP0003111_abnormal_nucleus_morphology1.72260664
28MP0006035_abnormal_mitochondrial_morpho1.67547524
29MP0001764_abnormal_homeostasis1.67321345
30MP0002163_abnormal_gland_morphology1.66388107
31MP0001293_anophthalmia1.61635090
32MP0005646_abnormal_pituitary_gland1.54346239
33MP0001529_abnormal_vocalization1.53968918
34MP0002736_abnormal_nociception_after1.51751763
35MP0001986_abnormal_taste_sensitivity1.46758244
36MP0002148_abnormal_hypersensitivity_rea1.37415300
37MP0003763_abnormal_thymus_physiology1.32873064
38MP0003077_abnormal_cell_cycle1.31689221
39MP0003195_calcinosis1.31621513
40MP0003567_abnormal_fetal_cardiomyocyte1.29584596
41MP0003787_abnormal_imprinting1.29162979
42MP0002006_tumorigenesis1.28055378
43MP0002166_altered_tumor_susceptibility1.27067391
44MP0005253_abnormal_eye_physiology1.26699856
45MP0001968_abnormal_touch/_nociception1.25012865
46MP0001919_abnormal_reproductive_system1.24871212
47MP0008007_abnormal_cellular_replicative1.17763252
48MP0000516_abnormal_urinary_system1.17744544
49MP0005367_renal/urinary_system_phenotyp1.17744544
50MP0005389_reproductive_system_phenotype1.17487162
51MP0001873_stomach_inflammation1.15451879
52MP0005645_abnormal_hypothalamus_physiol1.12965248
53MP0004142_abnormal_muscle_tone1.12749408
54MP0002693_abnormal_pancreas_physiology1.07814582
55MP0009785_altered_susceptibility_to1.06612919
56MP0002938_white_spotting1.03862840
57MP0008932_abnormal_embryonic_tissue1.03798681
58MP0003718_maternal_effect1.03574942
59MP0005379_endocrine/exocrine_gland_phen1.03396122
60MP0005332_abnormal_amino_acid0.99234854
61MP0005551_abnormal_eye_electrophysiolog0.97095698
62MP0005000_abnormal_immune_tolerance0.96267649
63MP0005220_abnormal_exocrine_pancreas0.94308849
64MP0001800_abnormal_humoral_immune0.92938799
65MP0000358_abnormal_cell_content/0.92355598
66MP0000427_abnormal_hair_cycle0.92204280
67MP0004145_abnormal_muscle_electrophysio0.87981485
68MP0000013_abnormal_adipose_tissue0.86244645
69MP0001819_abnormal_immune_cell0.85147203
70MP0002160_abnormal_reproductive_system0.84447849
71MP0001929_abnormal_gametogenesis0.83236858
72MP0002420_abnormal_adaptive_immunity0.83169173
73MP0003252_abnormal_bile_duct0.83162880
74MP0002396_abnormal_hematopoietic_system0.82212083
75MP0005636_abnormal_mineral_homeostasis0.81984257
76MP0002723_abnormal_immune_serum0.81739421
77MP0002210_abnormal_sex_determination0.81461808
78MP0000689_abnormal_spleen_morphology0.79264644
79MP0001188_hyperpigmentation0.79162986
80MP0008995_early_reproductive_senescence0.78900108
81MP0009697_abnormal_copulation0.78108728
82MP0002398_abnormal_bone_marrow0.77590158
83MP0000490_abnormal_crypts_of0.77220920
84MP0003866_abnormal_defecation0.76265752
85MP0001944_abnormal_pancreas_morphology0.76011275
86MP0006082_CNS_inflammation0.75700575
87MP0000703_abnormal_thymus_morphology0.75612506
88MP0001485_abnormal_pinna_reflex0.75387453
89MP0002452_abnormal_antigen_presenting0.75262378
90MP0002876_abnormal_thyroid_physiology0.74884113
91MP0002090_abnormal_vision0.74788766
92MP0005085_abnormal_gallbladder_physiolo0.73610195
93MP0000653_abnormal_sex_gland0.73554477
94MP0002132_abnormal_respiratory_system0.73461664
95MP0001145_abnormal_male_reproductive0.73260957
96MP0003121_genomic_imprinting0.72799993
97MP0002019_abnormal_tumor_incidence0.71204832
98MP0000716_abnormal_immune_system0.71075853
99MP0003123_paternal_imprinting0.69697063
100MP0008873_increased_physiological_sensi0.66436929

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)5.04700559
2Mitochondrial inheritance (HP:0001427)4.76029625
3Abnormal mitochondria in muscle tissue (HP:0008316)4.50439668
4Increased CSF lactate (HP:0002490)4.36523186
5Hepatocellular necrosis (HP:0001404)4.35753170
6Acute encephalopathy (HP:0006846)4.27736303
7Progressive macrocephaly (HP:0004481)4.27444690
8Hepatic necrosis (HP:0002605)4.17918215
9Increased hepatocellular lipid droplets (HP:0006565)4.01742695
103-Methylglutaconic aciduria (HP:0003535)3.70421894
11Lipid accumulation in hepatocytes (HP:0006561)3.58065477
12Cerebral edema (HP:0002181)3.46649238
13Congenital, generalized hypertrichosis (HP:0004540)3.43482937
14Abnormal number of erythroid precursors (HP:0012131)3.41512161
15Reticulocytopenia (HP:0001896)3.35883784
16Abnormality of cells of the erythroid lineage (HP:0012130)3.32206236
17Methylmalonic acidemia (HP:0002912)3.27149741
18Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.22644704
19Decreased activity of mitochondrial respiratory chain (HP:0008972)3.22644704
20Type I transferrin isoform profile (HP:0003642)3.21857704
21Aplastic anemia (HP:0001915)3.08704760
22Increased serum lactate (HP:0002151)3.06259692
23Lactic acidosis (HP:0003128)2.94450765
24Renal Fanconi syndrome (HP:0001994)2.91738865
25Macrocytic anemia (HP:0001972)2.91014017
26Colon cancer (HP:0003003)2.87896296
27Elevated erythrocyte sedimentation rate (HP:0003565)2.80162419
28Optic disc pallor (HP:0000543)2.77873251
29Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.77637929
30Abnormal protein N-linked glycosylation (HP:0012347)2.77637929
31Abnormal protein glycosylation (HP:0012346)2.77637929
32Abnormal glycosylation (HP:0012345)2.77637929
33Aplasia/Hypoplasia of the sacrum (HP:0008517)2.68706218
34Respiratory failure (HP:0002878)2.67975716
35Increased intramyocellular lipid droplets (HP:0012240)2.66118851
36Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.61970001
37Methylmalonic aciduria (HP:0012120)2.61883559
38Pancytopenia (HP:0001876)2.60905698
39Exertional dyspnea (HP:0002875)2.56877561
40Hyperinsulinemic hypoglycemia (HP:0000825)2.52537997
41Respiratory difficulties (HP:0002880)2.51588229
42IgG deficiency (HP:0004315)2.50273030
43Reduced antithrombin III activity (HP:0001976)2.40949561
44Lethargy (HP:0001254)2.39313661
45Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.31851764
46Leukodystrophy (HP:0002415)2.26599123
47Exercise intolerance (HP:0003546)2.25744515
48Abolished electroretinogram (ERG) (HP:0000550)2.24659770
49Pancreatic cysts (HP:0001737)2.22595111
50Oral leukoplakia (HP:0002745)2.21867814
51Hyperglycinemia (HP:0002154)2.20031474
52Hypoglycemic coma (HP:0001325)2.19624162
53Abnormality of alanine metabolism (HP:0010916)2.17819632
54Hyperalaninemia (HP:0003348)2.17819632
55Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.17819632
56Renal cortical cysts (HP:0000803)2.17452234
57B lymphocytopenia (HP:0010976)2.17338658
58Absent rod-and cone-mediated responses on ERG (HP:0007688)2.12487280
59Constricted visual fields (HP:0001133)2.12095062
60Microvesicular hepatic steatosis (HP:0001414)2.09856905
61Abnormality of vitamin B metabolism (HP:0004340)2.07893719
62Increased muscle lipid content (HP:0009058)2.07854486
63Abnormality of dicarboxylic acid metabolism (HP:0010995)2.06681679
64Dicarboxylic aciduria (HP:0003215)2.06681679
65Abnormal rod and cone electroretinograms (HP:0008323)2.05864388
66Severe combined immunodeficiency (HP:0004430)2.04857285
67Abnormality of serum amino acid levels (HP:0003112)2.04521124
68Glycosuria (HP:0003076)2.02979366
69Abnormality of urine glucose concentration (HP:0011016)2.02979366
70Abnormality of aspartate family amino acid metabolism (HP:0010899)2.02671543
71CNS demyelination (HP:0007305)2.00546411
72Abnormality of the vitamin B12 metabolism (HP:0004341)2.00204001
73Congenital stationary night blindness (HP:0007642)1.96740747
74Testicular atrophy (HP:0000029)1.95044299
75Septo-optic dysplasia (HP:0100842)1.94361370
76Rectal fistula (HP:0100590)1.93885427
77Rectovaginal fistula (HP:0000143)1.93885427
78Abnormality of B cell number (HP:0010975)1.93334839
79Decreased electroretinogram (ERG) amplitude (HP:0000654)1.91696056
80Generalized aminoaciduria (HP:0002909)1.89034338
81Pallor (HP:0000980)1.88101108
82Delayed CNS myelination (HP:0002188)1.87751249
83Stomatitis (HP:0010280)1.87386454
84Abnormality of the renal cortex (HP:0011035)1.86259736
85Hypoproteinemia (HP:0003075)1.80816181
86Ketosis (HP:0001946)1.80705045
87Hypoglycemic seizures (HP:0002173)1.80178050
88Molar tooth sign on MRI (HP:0002419)1.78451140
89Abnormality of midbrain morphology (HP:0002418)1.78451140
90Microretrognathia (HP:0000308)1.77603703
91IgM deficiency (HP:0002850)1.76243632
92Abnormality of renal resorption (HP:0011038)1.76179768
93Ketoacidosis (HP:0001993)1.74937628
94Aplasia/hypoplasia of the uterus (HP:0008684)1.74247080
95Maternal diabetes (HP:0009800)1.73578394
96Rough bone trabeculation (HP:0100670)1.73492544
97Large for gestational age (HP:0001520)1.73063557
98Abnormality of methionine metabolism (HP:0010901)1.72537201
99Triphalangeal thumb (HP:0001199)1.71195373
100Pancreatic fibrosis (HP:0100732)1.70526019

Predicted kinase interactions (KEA)

RankGene SetZ-score
1VRK24.21137802
2ZAK3.63535822
3TLK13.23239960
4STK163.02452339
5MAP4K22.91145940
6NUAK12.86770791
7MAP3K122.56525156
8PASK2.51394422
9BUB12.46503381
10MST42.31611368
11NME22.29916029
12PBK2.24955605
13PLK42.21780996
14BCKDK2.19174247
15EIF2AK32.05157155
16CDK191.91038077
17KDR1.90540137
18TXK1.88575579
19VRK11.84921482
20SRPK11.84177141
21TAF11.82771065
22CDC71.64620667
23TESK21.58520562
24GRK11.54074592
25ADRBK21.45600006
26ILK1.40657586
27TSSK61.34895340
28FRK1.28267818
29MAP4K11.20511927
30EIF2AK11.19738478
31INSRR1.15476142
32PLK31.15472924
33MAP3K91.07121607
34LIMK11.06853791
35MYLK1.06314982
36OXSR11.06057889
37TAOK31.05847849
38TRIM281.03219171
39IKBKB0.99988667
40GRK60.99147225
41MUSK0.98834075
42TTK0.87965221
43DAPK10.87569430
44BMPR1B0.84707440
45BMPR20.82937080
46WNK30.80047229
47ARAF0.79619101
48PINK10.79497588
49SCYL20.77764678
50PHKG10.77403225
51PHKG20.77403225
52PLK10.76619265
53AURKB0.74610853
54TEC0.72123806
55ITK0.71121923
56EIF2AK20.69746473
57NEK10.68885832
58MKNK10.67964016
59ATR0.67937663
60RPS6KA40.66854763
61TESK10.66170462
62CSNK1G10.66154681
63CSNK1G30.63057855
64WNK40.61707472
65ERBB30.59438900
66PLK20.59378656
67CSNK2A20.59087205
68PRKCQ0.58591439
69RPS6KA50.58554973
70RPS6KB20.58317896
71CDK80.57096763
72KIT0.56180497
73FLT30.55190694
74CSNK2A10.54378025
75ADRBK10.54273165
76CHEK20.54107740
77STK390.52881916
78CSNK1G20.52875446
79AURKA0.52699156
80MKNK20.50576371
81CSF1R0.49113702
82BRAF0.46082324
83DAPK30.44172420
84TGFBR10.42499640
85ABL20.39936592
86STK40.39754518
87MAP2K20.39632838
88TNK20.38616715
89CDK70.37969312
90NEK20.37931131
91WEE10.36583835
92MAP2K60.34954156
93TRPM70.34637270
94ATM0.33501164
95MAP2K70.32974222
96IKBKE0.31404921
97PIK3CG0.30681268
98PRKCI0.30350539
99PRKCE0.30043754
100STK30.29870916

Predicted pathways (KEGG)

RankGene SetZ-score
1Ribosome_Homo sapiens_hsa030104.80758622
2Proteasome_Homo sapiens_hsa030504.36308032
3Oxidative phosphorylation_Homo sapiens_hsa001904.03202753
4Parkinsons disease_Homo sapiens_hsa050123.31423835
5RNA polymerase_Homo sapiens_hsa030203.01907204
6Protein export_Homo sapiens_hsa030602.51896756
7Huntingtons disease_Homo sapiens_hsa050162.25736330
8Homologous recombination_Homo sapiens_hsa034402.17059755
9DNA replication_Homo sapiens_hsa030302.14040364
10Alzheimers disease_Homo sapiens_hsa050102.13503261
11Mismatch repair_Homo sapiens_hsa034302.06808325
12Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.96440213
13Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.95650710
14Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.94694804
15Asthma_Homo sapiens_hsa053101.90254122
16Pyrimidine metabolism_Homo sapiens_hsa002401.80969744
17RNA degradation_Homo sapiens_hsa030181.78262124
18Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.76132587
19Allograft rejection_Homo sapiens_hsa053301.69654515
20Graft-versus-host disease_Homo sapiens_hsa053321.64761936
21Base excision repair_Homo sapiens_hsa034101.63809131
22Type I diabetes mellitus_Homo sapiens_hsa049401.62819333
23Spliceosome_Homo sapiens_hsa030401.59632074
24Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.57984842
25Autoimmune thyroid disease_Homo sapiens_hsa053201.57314414
26One carbon pool by folate_Homo sapiens_hsa006701.54056431
27Non-homologous end-joining_Homo sapiens_hsa034501.50858357
28Primary immunodeficiency_Homo sapiens_hsa053401.50592818
29RNA transport_Homo sapiens_hsa030131.49392872
30Maturity onset diabetes of the young_Homo sapiens_hsa049501.48012307
31Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.46721379
32Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.45060299
33Intestinal immune network for IgA production_Homo sapiens_hsa046721.44784144
34Purine metabolism_Homo sapiens_hsa002301.40417036
35Basal transcription factors_Homo sapiens_hsa030221.35382416
36Nucleotide excision repair_Homo sapiens_hsa034201.32102275
37Fanconi anemia pathway_Homo sapiens_hsa034601.16528517
38Cardiac muscle contraction_Homo sapiens_hsa042601.14007759
39Antigen processing and presentation_Homo sapiens_hsa046121.10733467
40Peroxisome_Homo sapiens_hsa041461.06861075
41Folate biosynthesis_Homo sapiens_hsa007901.01578602
42Propanoate metabolism_Homo sapiens_hsa006400.99325911
43Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.97004354
44Phototransduction_Homo sapiens_hsa047440.93029090
45Sulfur metabolism_Homo sapiens_hsa009200.91673004
46Glutathione metabolism_Homo sapiens_hsa004800.90402443
47SNARE interactions in vesicular transport_Homo sapiens_hsa041300.81840582
48Sulfur relay system_Homo sapiens_hsa041220.79435273
49Rheumatoid arthritis_Homo sapiens_hsa053230.79156882
50Cysteine and methionine metabolism_Homo sapiens_hsa002700.79114178
51Fatty acid elongation_Homo sapiens_hsa000620.79055406
52Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.78176077
53Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.75660044
54Metabolic pathways_Homo sapiens_hsa011000.74474081
55Selenocompound metabolism_Homo sapiens_hsa004500.74270203
56Butanoate metabolism_Homo sapiens_hsa006500.69101847
57Pyruvate metabolism_Homo sapiens_hsa006200.63575867
58Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.59797811
59Linoleic acid metabolism_Homo sapiens_hsa005910.59737103
60Collecting duct acid secretion_Homo sapiens_hsa049660.59385821
61Nitrogen metabolism_Homo sapiens_hsa009100.59105644
62Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.57417495
63Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.56588938
64Drug metabolism - other enzymes_Homo sapiens_hsa009830.56279131
65Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.53929677
66Tryptophan metabolism_Homo sapiens_hsa003800.53520439
67Legionellosis_Homo sapiens_hsa051340.52990278
68Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.52205486
69Viral myocarditis_Homo sapiens_hsa054160.51927960
70Epstein-Barr virus infection_Homo sapiens_hsa051690.51272145
71Regulation of autophagy_Homo sapiens_hsa041400.50817853
72Systemic lupus erythematosus_Homo sapiens_hsa053220.48651989
73N-Glycan biosynthesis_Homo sapiens_hsa005100.47260804
74Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.46343819
75alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.45554267
76Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.43997360
77Primary bile acid biosynthesis_Homo sapiens_hsa001200.42739238
78Arachidonic acid metabolism_Homo sapiens_hsa005900.42557448
79Chemical carcinogenesis_Homo sapiens_hsa052040.42515043
80Retinol metabolism_Homo sapiens_hsa008300.41447712
81Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.39908309
82Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.39488511
83Hematopoietic cell lineage_Homo sapiens_hsa046400.38971061
84Herpes simplex infection_Homo sapiens_hsa051680.36460591
85Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.36451445
86Fat digestion and absorption_Homo sapiens_hsa049750.36266837
87Pentose and glucuronate interconversions_Homo sapiens_hsa000400.36054259
88Cell cycle_Homo sapiens_hsa041100.35138380
892-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.34412382
90Caffeine metabolism_Homo sapiens_hsa002320.32097612
91Vitamin digestion and absorption_Homo sapiens_hsa049770.30917697
92Carbon metabolism_Homo sapiens_hsa012000.29177840
93Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.25320069
94Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.22637703
95NOD-like receptor signaling pathway_Homo sapiens_hsa046210.22635714
96p53 signaling pathway_Homo sapiens_hsa041150.19758955
97Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.18197352
98NF-kappa B signaling pathway_Homo sapiens_hsa040640.15438122
99Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.15437781
100mRNA surveillance pathway_Homo sapiens_hsa030150.15304627

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