PTGES3L-AARSD1

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 locus represents naturally occurring readthrough transcription between the neighboring PTGES3L (prostaglandin E synthase 3 (cytosolic)-like) and AARSD1(alanyl-tRNA synthetase domain containing 1) genes on chromosome 17. The readthrough transcript encodes a fusion protein that shares sequence identity with each individual gene product. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1cullin deneddylation (GO:0010388)4.88707209
2protein deneddylation (GO:0000338)4.84968784
3L-methionine biosynthetic process from methylthioadenosine (GO:0019509)4.69727337
4positive regulation of mitochondrial fission (GO:0090141)4.67400935
5piRNA metabolic process (GO:0034587)4.51983654
6platelet dense granule organization (GO:0060155)4.50215822
7DNA deamination (GO:0045006)4.45793891
8protein K6-linked ubiquitination (GO:0085020)4.17486953
9proteasome assembly (GO:0043248)4.15401695
10regulation of translational fidelity (GO:0006450)4.04508945
11rRNA modification (GO:0000154)4.02804039
12DNA methylation involved in gamete generation (GO:0043046)4.01422720
13respiratory chain complex IV assembly (GO:0008535)3.99841094
14L-methionine salvage (GO:0071267)3.97148134
15L-methionine biosynthetic process (GO:0071265)3.97148134
16amino acid salvage (GO:0043102)3.97148134
17regulation of mitochondrial fission (GO:0090140)3.80338100
18synapsis (GO:0007129)3.61012084
19regulation of centriole replication (GO:0046599)3.57963146
20regulation of mitochondrial translation (GO:0070129)3.54719518
21ubiquinone biosynthetic process (GO:0006744)3.49579279
22positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)3.49153499
23maturation of 5.8S rRNA (GO:0000460)3.47011488
24protein complex biogenesis (GO:0070271)3.29527124
25mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.29412153
26mitochondrial respiratory chain complex I assembly (GO:0032981)3.29412153
27NADH dehydrogenase complex assembly (GO:0010257)3.29412153
28ubiquinone metabolic process (GO:0006743)3.28496883
29negative regulation of telomere maintenance (GO:0032205)3.27600577
30ribosome assembly (GO:0042255)3.24166193
31preassembly of GPI anchor in ER membrane (GO:0016254)3.22383516
32IMP biosynthetic process (GO:0006188)3.20186553
33dopamine transport (GO:0015872)3.19207838
34DNA catabolic process, exonucleolytic (GO:0000738)3.19001375
35mitochondrial respiratory chain complex assembly (GO:0033108)3.18332149
36kinetochore assembly (GO:0051382)3.18155617
37rRNA methylation (GO:0031167)3.15417854
38cytochrome complex assembly (GO:0017004)3.15259449
39methionine biosynthetic process (GO:0009086)3.14606759
40mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.14031898
41retinal metabolic process (GO:0042574)3.13501952
42regulation of translational elongation (GO:0006448)3.12165442
43chaperone-mediated protein transport (GO:0072321)3.12096212
44regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)3.09699408
45regulation of mitotic spindle checkpoint (GO:1903504)3.09699408
46lung vasculature development (GO:0060426)3.08779033
47IMP metabolic process (GO:0046040)3.02800740
48protein neddylation (GO:0045116)3.02134822
49regulation of chromatin silencing (GO:0031935)3.00234252
50cellular ketone body metabolic process (GO:0046950)2.99680725
51aspartate family amino acid biosynthetic process (GO:0009067)2.99484129
52resolution of meiotic recombination intermediates (GO:0000712)2.98570933
53regulation of glucokinase activity (GO:0033131)2.97497125
54regulation of hexokinase activity (GO:1903299)2.97497125
55negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)2.95486118
56peptidyl-arginine omega-N-methylation (GO:0035247)2.95125298
57DNA double-strand break processing (GO:0000729)2.93780446
58male meiosis (GO:0007140)2.92085457
59energy coupled proton transport, down electrochemical gradient (GO:0015985)2.84984462
60ATP synthesis coupled proton transport (GO:0015986)2.84984462
61kinetochore organization (GO:0051383)2.84128174
62mannosylation (GO:0097502)2.82487776
63methionine metabolic process (GO:0006555)2.81683963
64nucleobase biosynthetic process (GO:0046112)2.80834933
65water-soluble vitamin biosynthetic process (GO:0042364)2.80630519
66iron-sulfur cluster assembly (GO:0016226)2.80532668
67metallo-sulfur cluster assembly (GO:0031163)2.80532668
68AMP metabolic process (GO:0046033)2.77782804
69regulation of cellular amino acid metabolic process (GO:0006521)2.77180749
70positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)2.77117242
71microtubule depolymerization (GO:0007019)2.76077562
72regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)2.75536701
73mitochondrial calcium ion transport (GO:0006851)2.74662962
74termination of RNA polymerase III transcription (GO:0006386)2.74372923
75transcription elongation from RNA polymerase III promoter (GO:0006385)2.74372923
76protein polyglutamylation (GO:0018095)2.74352637
77tRNA processing (GO:0008033)2.71588167
78* tRNA metabolic process (GO:0006399)2.71068441
79histone arginine methylation (GO:0034969)2.69612233
80* tRNA aminoacylation for protein translation (GO:0006418)2.69003980
81pseudouridine synthesis (GO:0001522)2.67625807
82RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.67450670
83* tRNA aminoacylation (GO:0043039)2.66094098
84* amino acid activation (GO:0043038)2.66094098
85histone exchange (GO:0043486)2.65358067
86negative regulation of ligase activity (GO:0051352)2.64981257
87negative regulation of ubiquitin-protein transferase activity (GO:0051444)2.64981257
88oxidative phosphorylation (GO:0006119)2.64273731
89quinone biosynthetic process (GO:1901663)2.63996666
90regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:19022352.63915514
91CENP-A containing nucleosome assembly (GO:0034080)2.60692691
92lung morphogenesis (GO:0060425)2.60482269
93chromatin remodeling at centromere (GO:0031055)2.59094112
94ketone body metabolic process (GO:1902224)2.56893069
95replication fork processing (GO:0031297)2.56504965
96mitochondrial electron transport, NADH to ubiquinone (GO:0006120)2.55094033
97de novo protein folding (GO:0006458)2.55086828
98anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:02.54325391
99activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)2.54223782
100chromosome organization involved in meiosis (GO:0070192)2.51107390

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.82168737
2GLI1_17442700_ChIP-ChIP_MESCs_Mouse4.22945603
3EST1_17652178_ChIP-ChIP_JURKAT_Human3.60666741
4GABP_17652178_ChIP-ChIP_JURKAT_Human3.40295688
5JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.40121500
6E2F7_22180533_ChIP-Seq_HELA_Human3.34098695
7NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.30002665
8HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse3.09685618
9HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.85910512
10ELF1_17652178_ChIP-ChIP_JURKAT_Human2.79162747
11ETS1_20019798_ChIP-Seq_JURKAT_Human2.68702478
12ZNF274_21170338_ChIP-Seq_K562_Hela2.68627904
13VDR_23849224_ChIP-Seq_CD4+_Human2.62377587
14CREB1_15753290_ChIP-ChIP_HEK293T_Human2.59545427
15E2F4_17652178_ChIP-ChIP_JURKAT_Human2.59526158
16MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.43543211
17FOXP3_21729870_ChIP-Seq_TREG_Human2.43016234
18ELK1_19687146_ChIP-ChIP_HELA_Human2.26706403
19IGF1R_20145208_ChIP-Seq_DFB_Human2.25512583
20SRF_21415370_ChIP-Seq_HL-1_Mouse2.22827011
21MYC_18555785_ChIP-Seq_MESCs_Mouse2.19751636
22MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.15697291
23CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.12267502
24PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.11949813
25VDR_22108803_ChIP-Seq_LS180_Human2.07864304
26IRF1_19129219_ChIP-ChIP_H3396_Human2.03460711
27PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse2.00518578
28DCP1A_22483619_ChIP-Seq_HELA_Human1.97861262
29GABP_19822575_ChIP-Seq_HepG2_Human1.89217464
30FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.88329280
31THAP11_20581084_ChIP-Seq_MESCs_Mouse1.82361224
32MYC_18358816_ChIP-ChIP_MESCs_Mouse1.81595248
33FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.79756611
34MYC_19030024_ChIP-ChIP_MESCs_Mouse1.73427316
35MYC_18940864_ChIP-ChIP_HL60_Human1.68794367
36NOTCH1_21737748_ChIP-Seq_TLL_Human1.67377822
37PADI4_21655091_ChIP-ChIP_MCF-7_Human1.60868817
38EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.59369978
39TTF2_22483619_ChIP-Seq_HELA_Human1.58587255
40HOXB4_20404135_ChIP-ChIP_EML_Mouse1.58404615
41HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.58332924
42FUS_26573619_Chip-Seq_HEK293_Human1.54638526
43POU3F2_20337985_ChIP-ChIP_501MEL_Human1.54618970
44CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.53773709
45YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.53302648
46FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.52622971
47SALL1_21062744_ChIP-ChIP_HESCs_Human1.52176418
48DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.47669105
49E2F1_18555785_ChIP-Seq_MESCs_Mouse1.45363828
50ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.34454347
51EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.31013277
52MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.27274152
53TP53_22573176_ChIP-Seq_HFKS_Human1.27232037
54E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.26140889
55FLI1_27457419_Chip-Seq_LIVER_Mouse1.23723256
56EWS_26573619_Chip-Seq_HEK293_Human1.22631796
57YY1_21170310_ChIP-Seq_MESCs_Mouse1.22360407
58NANOG_18555785_ChIP-Seq_MESCs_Mouse1.21090888
59HTT_18923047_ChIP-ChIP_STHdh_Human1.19137308
60HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.18424025
61SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.17854936
62TAF15_26573619_Chip-Seq_HEK293_Human1.17790855
63P300_19829295_ChIP-Seq_ESCs_Human1.15967276
64NELFA_20434984_ChIP-Seq_ESCs_Mouse1.15624158
65BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.15598337
66ZFP57_27257070_Chip-Seq_ESCs_Mouse1.13573941
67MYCN_18555785_ChIP-Seq_MESCs_Mouse1.12129021
68CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.11199192
69POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.11056205
70GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.10643973
71CIITA_25753668_ChIP-Seq_RAJI_Human1.10571483
72KDM5A_27292631_Chip-Seq_BREAST_Human1.10521952
73SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.09134001
74XRN2_22483619_ChIP-Seq_HELA_Human1.06264114
75KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.05215009
76NANOG_19829295_ChIP-Seq_ESCs_Human1.04168323
77SOX2_19829295_ChIP-Seq_ESCs_Human1.04168323
78GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.04051601
79FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.03207421
80E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.01154137
81CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.00766523
82GBX2_23144817_ChIP-Seq_PC3_Human0.99535100
83ER_23166858_ChIP-Seq_MCF-7_Human0.98775640
84NANOG_16153702_ChIP-ChIP_HESCs_Human0.98483740
85PCGF2_27294783_Chip-Seq_ESCs_Mouse0.94970430
86CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.94535611
87FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.94485911
88CTBP1_25329375_ChIP-Seq_LNCAP_Human0.94215504
89FOXA1_25329375_ChIP-Seq_VCAP_Human0.93580346
90FOXA1_27270436_Chip-Seq_PROSTATE_Human0.93580346
91AR_20517297_ChIP-Seq_VCAP_Human0.91816891
92HOXB7_26014856_ChIP-Seq_BT474_Human0.91099187
93ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.86380563
94GATA3_26560356_Chip-Seq_TH2_Human0.84909513
95CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.83966700
96CTBP2_25329375_ChIP-Seq_LNCAP_Human0.83752355
97FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.83657324
98AUTS2_25519132_ChIP-Seq_293T-REX_Human0.82442276
99SOX2_16153702_ChIP-ChIP_HESCs_Human0.81478275
100LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.81159181

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008877_abnormal_DNA_methylation5.76647780
2MP0003806_abnormal_nucleotide_metabolis3.74648409
3MP0003646_muscle_fatigue3.69965147
4MP0008058_abnormal_DNA_repair3.65373396
5MP0004145_abnormal_muscle_electrophysio3.54399784
6MP0010094_abnormal_chromosome_stability3.14362213
7MP0003693_abnormal_embryo_hatching2.73281051
8MP0006036_abnormal_mitochondrial_physio2.72964489
9MP0002102_abnormal_ear_morphology2.51857522
10MP0005645_abnormal_hypothalamus_physiol2.48044489
11MP0002837_dystrophic_cardiac_calcinosis2.39920083
12MP0001986_abnormal_taste_sensitivity2.30768246
13MP0004215_abnormal_myocardial_fiber2.26788120
14MP0003718_maternal_effect2.10875040
15MP0006035_abnormal_mitochondrial_morpho2.07542544
16MP0001764_abnormal_homeostasis2.00188859
17MP0009697_abnormal_copulation1.93687433
18MP0005646_abnormal_pituitary_gland1.86923448
19MP0004957_abnormal_blastocyst_morpholog1.80845408
20MP0006072_abnormal_retinal_apoptosis1.80840751
21MP0003111_abnormal_nucleus_morphology1.73630602
22MP0001529_abnormal_vocalization1.71791931
23MP0004147_increased_porphyrin_level1.67582607
24MP0005410_abnormal_fertilization1.53025089
25MP0003077_abnormal_cell_cycle1.49909551
26MP0000372_irregular_coat_pigmentation1.49529333
27MP0002736_abnormal_nociception_after1.48642752
28MP0001984_abnormal_olfaction1.48342869
29MP0002160_abnormal_reproductive_system1.45809115
30MP0003186_abnormal_redox_activity1.45676387
31MP0004084_abnormal_cardiac_muscle1.42250682
32MP0000358_abnormal_cell_content/1.39693877
33MP0001968_abnormal_touch/_nociception1.37679319
34MP0002210_abnormal_sex_determination1.32971811
35MP0005464_abnormal_platelet_physiology1.31961472
36MP0003786_premature_aging1.29046217
37MP0008932_abnormal_embryonic_tissue1.27111694
38MP0004036_abnormal_muscle_relaxation1.26843930
39MP0008789_abnormal_olfactory_epithelium1.26500687
40MP0008872_abnormal_physiological_respon1.21230848
41MP0003567_abnormal_fetal_cardiomyocyte1.21107311
42MP0001929_abnormal_gametogenesis1.20677677
43MP0005330_cardiomyopathy1.20262653
44MP0002106_abnormal_muscle_physiology1.19909714
45MP0008775_abnormal_heart_ventricle1.19507181
46MP0003698_abnormal_male_reproductive1.17467127
47MP0000013_abnormal_adipose_tissue1.17081824
48MP0001853_heart_inflammation1.15981355
49MP0009046_muscle_twitch1.15165341
50MP0002132_abnormal_respiratory_system1.14860455
51MP0005084_abnormal_gallbladder_morpholo1.13572829
52MP0000653_abnormal_sex_gland1.13274167
53MP0001145_abnormal_male_reproductive1.12154574
54MP0001661_extended_life_span1.11765519
55MP0000751_myopathy1.11236123
56MP0005389_reproductive_system_phenotype1.09590163
57MP0003121_genomic_imprinting1.05293799
58MP0008007_abnormal_cellular_replicative1.02390213
59MP0005253_abnormal_eye_physiology1.01773199
60MP0005551_abnormal_eye_electrophysiolog0.99108906
61MP0005499_abnormal_olfactory_system0.98237497
62MP0005394_taste/olfaction_phenotype0.98237497
63MP0001486_abnormal_startle_reflex0.97512866
64MP0004085_abnormal_heartbeat0.95598716
65MP0005332_abnormal_amino_acid0.93435062
66MP0006276_abnormal_autonomic_nervous0.92050494
67MP0005369_muscle_phenotype0.90944549
68MP0000749_muscle_degeneration0.90707482
69MP0003137_abnormal_impulse_conducting0.90153337
70MP0004142_abnormal_muscle_tone0.89948901
71MP0005636_abnormal_mineral_homeostasis0.88321722
72MP0001905_abnormal_dopamine_level0.87718272
73MP0003787_abnormal_imprinting0.86948341
74MP0002269_muscular_atrophy0.83118436
75MP0002272_abnormal_nervous_system0.80714288
76MP0000015_abnormal_ear_pigmentation0.80015774
77MP0005671_abnormal_response_to0.78816116
78MP0005647_abnormal_sex_gland0.78648431
79MP0009745_abnormal_behavioral_response0.76541518
80MP0003122_maternal_imprinting0.75505764
81MP0001501_abnormal_sleep_pattern0.74155720
82MP0005620_abnormal_muscle_contractility0.73560376
83MP0005266_abnormal_metabolism0.72618361
84MP0010329_abnormal_lipoprotein_level0.71577975
85MP0001502_abnormal_circadian_rhythm0.68863511
86MP0002822_catalepsy0.68078258
87MP0003195_calcinosis0.68009160
88MP0000230_abnormal_systemic_arterial0.67759882
89MP0002928_abnormal_bile_duct0.66536220
90MP0005167_abnormal_blood-brain_barrier0.64907453
91MP0005075_abnormal_melanosome_morpholog0.64877123
92MP0001119_abnormal_female_reproductive0.63820479
93MP0003828_pulmonary_edema0.62568579
94MP0002972_abnormal_cardiac_muscle0.60652344
95MP0004197_abnormal_fetal_growth/weight/0.60006173
96MP0004233_abnormal_muscle_weight0.57682517
97MP0002693_abnormal_pancreas_physiology0.57170542
98MP0009333_abnormal_splenocyte_physiolog0.54992418
99MP0002229_neurodegeneration0.54882334
100MP0001765_abnormal_ion_homeostasis0.54143657

Predicted human phenotypes

RankGene SetZ-score
1Type II lissencephaly (HP:0007260)3.87179794
2Abnormality of pyruvate family amino acid metabolism (HP:0010915)3.54007669
3Abnormality of alanine metabolism (HP:0010916)3.54007669
4Hyperalaninemia (HP:0003348)3.54007669
5Renal cortical cysts (HP:0000803)3.52721972
6Methylmalonic acidemia (HP:0002912)3.42719558
7Acute necrotizing encephalopathy (HP:0006965)3.41935535
8Hepatic necrosis (HP:0002605)3.39355092
9Abnormal mitochondria in muscle tissue (HP:0008316)3.16503475
10Acute encephalopathy (HP:0006846)3.11084061
11Retinal dysplasia (HP:0007973)2.98126877
12Hepatocellular necrosis (HP:0001404)2.95020862
13Progressive macrocephaly (HP:0004481)2.86014922
14Cerebral hypomyelination (HP:0006808)2.81894065
15Nemaline bodies (HP:0003798)2.75967063
16Mitochondrial inheritance (HP:0001427)2.73869991
17Methylmalonic aciduria (HP:0012120)2.73568304
18Muscle fiber inclusion bodies (HP:0100299)2.72987530
19Meckel diverticulum (HP:0002245)2.70147738
20Lipid accumulation in hepatocytes (HP:0006561)2.69357473
21Abnormality of the renal cortex (HP:0011035)2.64041387
22Increased serum lactate (HP:0002151)2.63817553
23Increased CSF lactate (HP:0002490)2.63711976
24Delayed CNS myelination (HP:0002188)2.63296755
25Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)2.60735071
26Petechiae (HP:0000967)2.59482131
27Bile duct proliferation (HP:0001408)2.59421718
28Abnormal biliary tract physiology (HP:0012439)2.59421718
29Generalized aminoaciduria (HP:0002909)2.55712325
30Increased muscle lipid content (HP:0009058)2.54378934
31Aplastic anemia (HP:0001915)2.53528376
32Lissencephaly (HP:0001339)2.53340335
33Abnormality of the ileum (HP:0001549)2.51283208
34Asplenia (HP:0001746)2.51105833
35Aplasia/Hypoplasia of the uvula (HP:0010293)2.50706617
36Atonic seizures (HP:0010819)2.50020598
37Aplasia/Hypoplasia of the spleen (HP:0010451)2.45475122
38Abnormality of dicarboxylic acid metabolism (HP:0010995)2.44506078
39Dicarboxylic aciduria (HP:0003215)2.44506078
40Cerebral edema (HP:0002181)2.44207639
41Hypoglycemic coma (HP:0001325)2.43971219
42Abnormal protein N-linked glycosylation (HP:0012347)2.38020973
43Abnormal protein glycosylation (HP:0012346)2.38020973
44Abnormal glycosylation (HP:0012345)2.38020973
45Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.38020973
46Abnormality of glycolysis (HP:0004366)2.37299233
47Absent phalangeal crease (HP:0006109)2.35872273
48Lactic acidosis (HP:0003128)2.34354851
49Pancreatic cysts (HP:0001737)2.34115471
50Progressive microcephaly (HP:0000253)2.31430075
51Increased intramyocellular lipid droplets (HP:0012240)2.31096613
52Increased serum pyruvate (HP:0003542)2.27385784
53Abnormality of the labia minora (HP:0012880)2.27307453
54Tongue fasciculations (HP:0001308)2.26671360
55Abnormality of fatty-acid metabolism (HP:0004359)2.22061277
56Supernumerary spleens (HP:0009799)2.21440963
57Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.20519670
58Decreased activity of mitochondrial respiratory chain (HP:0008972)2.20519670
59Abnormality of the costochondral junction (HP:0000919)2.18029193
60Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.16640610
61Hyperglycinuria (HP:0003108)2.15471754
62Myoglobinuria (HP:0002913)2.12473259
63Pachygyria (HP:0001302)2.09358620
64Abnormality of serine family amino acid metabolism (HP:0010894)2.08244785
65Abnormality of glycine metabolism (HP:0010895)2.08244785
66Exercise intolerance (HP:0003546)2.07733797
67Lethargy (HP:0001254)2.07699255
68Abnormality of the pons (HP:0007361)2.07294551
69Hypothermia (HP:0002045)2.02268606
70Rhabdomyolysis (HP:0003201)2.00551814
71Abnormality of the preputium (HP:0100587)2.00424683
72Hypoplasia of the pons (HP:0012110)1.99484293
73Symptomatic seizures (HP:0011145)1.98890352
74Abnormality of the vitamin B12 metabolism (HP:0004341)1.97242101
75CNS demyelination (HP:0007305)1.94820269
76Abnormality of vitamin B metabolism (HP:0004340)1.94160934
77Cerebellar dysplasia (HP:0007033)1.94066035
78Pancytopenia (HP:0001876)1.91618442
79Abnormality of long-chain fatty-acid metabolism (HP:0010964)1.90922417
80Respiratory failure (HP:0002878)1.90848190
81Rough bone trabeculation (HP:0100670)1.90607797
82Small intestinal stenosis (HP:0012848)1.89915075
83Duodenal stenosis (HP:0100867)1.89915075
84Muscle hypertrophy of the lower extremities (HP:0008968)1.87293317
85Muscle fibrillation (HP:0010546)1.87175265
86Hypomagnesemia (HP:0002917)1.86674631
87Postnatal microcephaly (HP:0005484)1.86049356
88Abnormal finger flexion creases (HP:0006143)1.85182561
89Pancreatic fibrosis (HP:0100732)1.85158815
90Abnormality of the anterior horn cell (HP:0006802)1.82111189
91Degeneration of anterior horn cells (HP:0002398)1.82111189
92Absence seizures (HP:0002121)1.82033686
93Exercise-induced muscle cramps (HP:0003710)1.81980053
94Testicular atrophy (HP:0000029)1.81145791
95Hyperglycinemia (HP:0002154)1.79045845
96Unsteady gait (HP:0002317)1.77384237
97Febrile seizures (HP:0002373)1.77132609
98Abnormality of serum amino acid levels (HP:0003112)1.75787562
99Delusions (HP:0000746)1.74882583
100Emotional lability (HP:0000712)1.72750828

Predicted kinase interactions (KEA)

RankGene SetZ-score
1SRPK14.36794376
2PINK13.79771679
3MAP4K23.30422891
4BRSK23.28829392
5TSSK63.11950743
6VRK22.61806504
7EIF2AK12.58460888
8PLK42.33907111
9NEK12.24349942
10OBSCN2.21977286
11BUB12.20574189
12WNK32.16862427
13WEE12.15050583
14DYRK22.07049574
15TAOK32.04188868
16BCKDK1.87668687
17MST41.85916191
18PHKG21.82344143
19PHKG11.82344143
20ADRBK21.69483401
21PLK31.68738594
22TRIM281.63150459
23ZAK1.63136674
24VRK11.56954564
25SCYL21.54963570
26CDC71.49238751
27GRK11.42331474
28BRSK11.37020594
29ERBB31.20854011
30EIF2AK21.19486406
31TTK1.19317899
32BMPR1B1.18484112
33NME11.14082904
34TIE11.10641500
35PIK3CG1.09986472
36CSNK1G31.09891331
37NUAK11.09399700
38TESK21.07777954
39GRK71.06438675
40MAP2K70.99772143
41PLK20.99480186
42EIF2AK30.98690170
43MAPK130.98428060
44PLK10.97358115
45DAPK20.96767907
46STK100.92456959
47CSNK1G20.90637908
48TXK0.89414875
49MAPKAPK30.86147914
50FLT30.84440784
51CSNK1G10.84302112
52CCNB10.84202040
53BMPR20.83945270
54STK160.80750741
55MAP3K40.78487018
56GRK50.77970669
57DAPK10.74095808
58MAPKAPK50.74021050
59TLK10.72815649
60ATR0.71765120
61FRK0.71708856
62MOS0.68532669
63EPHA30.67687488
64MARK10.64653869
65RPS6KA40.63442258
66PBK0.62740525
67CSNK1A1L0.62111507
68PDK20.59785497
69MAP3K50.58988388
70ACVR1B0.58958090
71ADRBK10.58811837
72TEC0.52638215
73AURKB0.50082678
74TNIK0.49171792
75CSNK1A10.49038843
76AURKA0.48748447
77PRKCE0.46543973
78MAP2K60.46311732
79RPS6KA50.45602236
80NME20.44822775
81CHEK20.44117841
82KDR0.43955635
83INSRR0.43412843
84ATM0.43034576
85PRKCG0.42943426
86SIK30.42129514
87MYLK0.39186329
88PRKCI0.38691910
89STK38L0.38525051
90MKNK10.38513180
91IKBKB0.38316292
92BCR0.33406749
93PKN10.32881783
94CSNK2A10.32394617
95CAMK2A0.31798762
96PRKG10.29510091
97MKNK20.29150114
98SYK0.27227337
99IGF1R0.27020722
100CSNK1E0.26212957

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030503.69225254
2Non-homologous end-joining_Homo sapiens_hsa034503.09251068
3Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.60975245
4Mismatch repair_Homo sapiens_hsa034302.59771739
5DNA replication_Homo sapiens_hsa030302.57525162
6Oxidative phosphorylation_Homo sapiens_hsa001902.53998299
7Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.39419948
8RNA polymerase_Homo sapiens_hsa030202.36639554
9Parkinsons disease_Homo sapiens_hsa050122.30821063
10Homologous recombination_Homo sapiens_hsa034402.29739298
11Protein export_Homo sapiens_hsa030602.21283793
12One carbon pool by folate_Homo sapiens_hsa006702.09693964
13Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.08811528
14Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.05238627
15Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.96413485
16Pyrimidine metabolism_Homo sapiens_hsa002401.89563124
17Selenocompound metabolism_Homo sapiens_hsa004501.89169142
18Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.88920855
19Sulfur metabolism_Homo sapiens_hsa009201.88676034
20Fanconi anemia pathway_Homo sapiens_hsa034601.86715707
21RNA transport_Homo sapiens_hsa030131.81959475
22Fatty acid elongation_Homo sapiens_hsa000621.79772912
23Nucleotide excision repair_Homo sapiens_hsa034201.79634987
24Propanoate metabolism_Homo sapiens_hsa006401.77436188
25Nitrogen metabolism_Homo sapiens_hsa009101.76846447
26Spliceosome_Homo sapiens_hsa030401.73321889
27Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.64290224
28RNA degradation_Homo sapiens_hsa030181.62168789
29Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.57564280
30Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.54422301
31Huntingtons disease_Homo sapiens_hsa050161.52417797
32Base excision repair_Homo sapiens_hsa034101.51523314
33Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.47433167
34Purine metabolism_Homo sapiens_hsa002301.45513885
35Sulfur relay system_Homo sapiens_hsa041221.45493565
362-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.45226452
37Phototransduction_Homo sapiens_hsa047441.43648154
38Cysteine and methionine metabolism_Homo sapiens_hsa002701.38189613
39Basal transcription factors_Homo sapiens_hsa030221.34890977
40Alzheimers disease_Homo sapiens_hsa050101.28685602
41Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.22454711
42Cardiac muscle contraction_Homo sapiens_hsa042601.19050753
43Pyruvate metabolism_Homo sapiens_hsa006201.04326691
44Carbon metabolism_Homo sapiens_hsa012001.01282692
45Glutathione metabolism_Homo sapiens_hsa004801.01215609
46Butanoate metabolism_Homo sapiens_hsa006500.96420085
47Peroxisome_Homo sapiens_hsa041460.90793721
48SNARE interactions in vesicular transport_Homo sapiens_hsa041300.89345155
49Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.85163589
50alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.84246630
51Biosynthesis of amino acids_Homo sapiens_hsa012300.82707502
52Collecting duct acid secretion_Homo sapiens_hsa049660.78884111
53Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.78696633
54Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.78658776
55Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.78234188
56Steroid biosynthesis_Homo sapiens_hsa001000.74877307
57Metabolic pathways_Homo sapiens_hsa011000.73777027
58Regulation of autophagy_Homo sapiens_hsa041400.73434688
59Folate biosynthesis_Homo sapiens_hsa007900.71677198
60Fatty acid metabolism_Homo sapiens_hsa012120.71180094
61Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.70885907
62Cell cycle_Homo sapiens_hsa041100.69718880
63Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.65689847
64Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.65665529
65Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.61211244
66Linoleic acid metabolism_Homo sapiens_hsa005910.60636144
67Fatty acid degradation_Homo sapiens_hsa000710.59679535
68Arginine and proline metabolism_Homo sapiens_hsa003300.59518978
69Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.59427202
70Oocyte meiosis_Homo sapiens_hsa041140.57492192
71beta-Alanine metabolism_Homo sapiens_hsa004100.56395692
72Circadian rhythm_Homo sapiens_hsa047100.56267394
73Maturity onset diabetes of the young_Homo sapiens_hsa049500.56013629
74Type I diabetes mellitus_Homo sapiens_hsa049400.52114662
75Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.51524057
76Antigen processing and presentation_Homo sapiens_hsa046120.49563860
77Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.46824305
78Arachidonic acid metabolism_Homo sapiens_hsa005900.45590517
79Asthma_Homo sapiens_hsa053100.43052353
80mRNA surveillance pathway_Homo sapiens_hsa030150.41979458
81Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.40878508
82Pentose phosphate pathway_Homo sapiens_hsa000300.38261164
83Graft-versus-host disease_Homo sapiens_hsa053320.36675496
84Ether lipid metabolism_Homo sapiens_hsa005650.36539091
85Synaptic vesicle cycle_Homo sapiens_hsa047210.35465159
86Drug metabolism - other enzymes_Homo sapiens_hsa009830.29828654
87Intestinal immune network for IgA production_Homo sapiens_hsa046720.28981419
88Olfactory transduction_Homo sapiens_hsa047400.27204422
89Tryptophan metabolism_Homo sapiens_hsa003800.27050533
90N-Glycan biosynthesis_Homo sapiens_hsa005100.26496011
91Primary bile acid biosynthesis_Homo sapiens_hsa001200.24467481
92Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.23063781
93Serotonergic synapse_Homo sapiens_hsa047260.22886990
94Rheumatoid arthritis_Homo sapiens_hsa053230.20921686
95Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.19510716
96Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.17955985
97Mineral absorption_Homo sapiens_hsa049780.17596354
98Legionellosis_Homo sapiens_hsa051340.17537435
99Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.15554469
100Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.15511898

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