RPL17-C18ORF32

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 read-through transcription between the neighboring RPL17 (ribosomal protein L17) and C18orf32 (chromosome 18 open reading frame 32) genes. Alternative splicing results in multiple transcript variants. The encoded isoforms share sequence identity with the RPL17 protein, but they include frameshifted C-terminal regions derived from the downstream gene exons. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1mitochondrial ATP synthesis coupled proton transport (GO:0042776)7.44609361
2viral transcription (GO:0019083)6.94047747
3translational termination (GO:0006415)6.74541715
4ATP synthesis coupled proton transport (GO:0015986)6.58650999
5energy coupled proton transport, down electrochemical gradient (GO:0015985)6.58650999
6ribosomal small subunit biogenesis (GO:0042274)6.41954716
7SRP-dependent cotranslational protein targeting to membrane (GO:0006614)6.34963580
8cotranslational protein targeting to membrane (GO:0006613)6.29310232
9chaperone-mediated protein transport (GO:0072321)6.27392460
10protein targeting to ER (GO:0045047)6.25249563
11establishment of protein localization to endoplasmic reticulum (GO:0072599)6.02555734
12protein localization to endoplasmic reticulum (GO:0070972)5.92272011
13mitochondrial electron transport, NADH to ubiquinone (GO:0006120)5.87514997
14translational elongation (GO:0006414)5.72545027
15ribosomal large subunit biogenesis (GO:0042273)5.51909153
16maturation of SSU-rRNA (GO:0030490)5.49995694
17ribosomal small subunit assembly (GO:0000028)5.48171174
18respiratory electron transport chain (GO:0022904)5.44382585
19electron transport chain (GO:0022900)5.35939678
20establishment of protein localization to mitochondrial membrane (GO:0090151)5.23239176
21viral life cycle (GO:0019058)5.18893191
22protein complex biogenesis (GO:0070271)5.09337461
23cellular protein complex disassembly (GO:0043624)5.07707709
24protein neddylation (GO:0045116)5.06761530
25translational initiation (GO:0006413)4.95848786
26mitochondrial respiratory chain complex assembly (GO:0033108)4.91129095
27nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)4.88252595
28proteasome assembly (GO:0043248)4.82536653
29translation (GO:0006412)4.81714613
30mitochondrial respiratory chain complex I biogenesis (GO:0097031)4.79455192
31mitochondrial respiratory chain complex I assembly (GO:0032981)4.79455192
32NADH dehydrogenase complex assembly (GO:0010257)4.79455192
33water-soluble vitamin biosynthetic process (GO:0042364)4.78270333
34transcription elongation from RNA polymerase III promoter (GO:0006385)4.69046529
35termination of RNA polymerase III transcription (GO:0006386)4.69046529
36regulation of mitochondrial translation (GO:0070129)4.26622673
37protein targeting to membrane (GO:0006612)4.12304918
38protein complex disassembly (GO:0043241)4.10668176
39exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.96920814
40macromolecular complex disassembly (GO:0032984)3.95861478
41nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.88809015
42protein targeting to mitochondrion (GO:0006626)3.84573905
43cellular component biogenesis (GO:0044085)3.83977406
44respiratory chain complex IV assembly (GO:0008535)3.74788182
45cytochrome complex assembly (GO:0017004)3.74719622
46nuclear-transcribed mRNA catabolic process (GO:0000956)3.72697353
47hydrogen ion transmembrane transport (GO:1902600)3.70071772
48ribonucleoprotein complex biogenesis (GO:0022613)3.69804685
49rRNA processing (GO:0006364)3.69203650
50rRNA modification (GO:0000154)3.68914255
51cullin deneddylation (GO:0010388)3.64037203
52ATP biosynthetic process (GO:0006754)3.62465076
53rRNA metabolic process (GO:0016072)3.58734880
54protein localization to mitochondrion (GO:0070585)3.51044196
55establishment of protein localization to mitochondrion (GO:0072655)3.50803247
56mRNA catabolic process (GO:0006402)3.50527864
57rRNA methylation (GO:0031167)3.48637166
58protein-cofactor linkage (GO:0018065)3.44750448
59purine nucleoside triphosphate biosynthetic process (GO:0009145)3.39954674
60proton transport (GO:0015992)3.34335859
61purine ribonucleoside triphosphate biosynthetic process (GO:0009206)3.32874207
62DNA deamination (GO:0045006)3.32712159
63protein deneddylation (GO:0000338)3.30851196
64hydrogen transport (GO:0006818)3.28751605
65RNA catabolic process (GO:0006401)3.27294631
66tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.21654323
67RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.21654323
68CENP-A containing nucleosome assembly (GO:0034080)3.16197872
69chromatin remodeling at centromere (GO:0031055)3.15844372
70spliceosomal snRNP assembly (GO:0000387)3.14376353
71regulation of oxidative phosphorylation (GO:0002082)3.13575483
72mitochondrial transport (GO:0006839)3.13565915
73protein targeting (GO:0006605)3.10403062
74intracellular protein transmembrane import (GO:0044743)3.09668537
75pseudouridine synthesis (GO:0001522)3.05644690
76negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.03261011
77spliceosomal complex assembly (GO:0000245)3.02990597
78DNA replication checkpoint (GO:0000076)2.93045630
79establishment of protein localization to membrane (GO:0090150)2.89584651
80ribonucleoside triphosphate biosynthetic process (GO:0009201)2.88831007
81DNA catabolic process, exonucleolytic (GO:0000738)2.87617178
82negative regulation of ligase activity (GO:0051352)2.81041318
83negative regulation of ubiquitin-protein transferase activity (GO:0051444)2.81041318
84pyrimidine deoxyribonucleotide catabolic process (GO:0009223)2.80427172
85positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)2.78506327
86establishment of protein localization to organelle (GO:0072594)2.78113583
87signal peptide processing (GO:0006465)2.77756528
88tRNA processing (GO:0008033)2.77343582
89oxidative phosphorylation (GO:0006119)2.77324920
90vitamin biosynthetic process (GO:0009110)2.75231146
91histone exchange (GO:0043486)2.75036768
92histone mRNA metabolic process (GO:0008334)2.74100549
93regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)2.72886900
94ncRNA processing (GO:0034470)2.69121236
95mitochondrion morphogenesis (GO:0070584)2.69021567
96platelet dense granule organization (GO:0060155)2.67667868
97peptidyl-histidine modification (GO:0018202)2.66635377
98DNA damage response, detection of DNA damage (GO:0042769)2.65959989
99purine ribonucleoside monophosphate biosynthetic process (GO:0009168)2.63481763
100purine nucleoside monophosphate biosynthetic process (GO:0009127)2.63481763

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.85580806
2FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse4.81548954
3GABP_17652178_ChIP-ChIP_JURKAT_Human4.80045417
4EST1_17652178_ChIP-ChIP_JURKAT_Human4.50411428
5SOX9_22984422_ChIP-ChIP_TESTIS_Rat4.40748462
6HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human3.26764818
7JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.19864091
8CREB1_15753290_ChIP-ChIP_HEK293T_Human3.12211624
9MYC_18555785_ChIP-Seq_MESCs_Mouse3.06737058
10ETS1_20019798_ChIP-Seq_JURKAT_Human2.99385195
11VDR_23849224_ChIP-Seq_CD4+_Human2.89707754
12ELK1_19687146_ChIP-ChIP_HELA_Human2.89539286
13ELF1_17652178_ChIP-ChIP_JURKAT_Human2.82425395
14CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.78451213
15MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.78136753
16E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.75751503
17FOXP3_21729870_ChIP-Seq_TREG_Human2.35297588
18HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.21010308
19NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.03106191
20DCP1A_22483619_ChIP-Seq_HELA_Human2.00577718
21MYC_18940864_ChIP-ChIP_HL60_Human2.00299300
22PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.97668715
23TTF2_22483619_ChIP-Seq_HELA_Human1.91150535
24EWS_26573619_Chip-Seq_HEK293_Human1.90997432
25MYC_19079543_ChIP-ChIP_MESCs_Mouse1.89859193
26SRF_21415370_ChIP-Seq_HL-1_Mouse1.89698725
27FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.88799357
28PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.85140474
29MYC_18358816_ChIP-ChIP_MESCs_Mouse1.84806131
30E2F4_17652178_ChIP-ChIP_JURKAT_Human1.81790916
31MYC_19030024_ChIP-ChIP_MESCs_Mouse1.80533095
32PADI4_21655091_ChIP-ChIP_MCF-7_Human1.76948676
33FUS_26573619_Chip-Seq_HEK293_Human1.76175243
34VDR_22108803_ChIP-Seq_LS180_Human1.76081090
35FLI1_27457419_Chip-Seq_LIVER_Mouse1.71276930
36XRN2_22483619_ChIP-Seq_HELA_Human1.60139410
37E2F1_18555785_ChIP-Seq_MESCs_Mouse1.50025211
38THAP11_20581084_ChIP-Seq_MESCs_Mouse1.48427702
39HOXB4_20404135_ChIP-ChIP_EML_Mouse1.46975914
40POU3F2_20337985_ChIP-ChIP_501MEL_Human1.43782821
41IGF1R_20145208_ChIP-Seq_DFB_Human1.42138193
42ELK1_22589737_ChIP-Seq_MCF10A_Human1.40815842
43TAF15_26573619_Chip-Seq_HEK293_Human1.35791882
44GABP_19822575_ChIP-Seq_HepG2_Human1.35521772
45ZNF274_21170338_ChIP-Seq_K562_Hela1.35064178
46POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.34642127
47HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.34252787
48HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.32837657
49EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.32719929
50NOTCH1_21737748_ChIP-Seq_TLL_Human1.29466731
51TP53_22573176_ChIP-Seq_HFKS_Human1.28897594
52ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.28147700
53PCGF2_27294783_Chip-Seq_ESCs_Mouse1.27422032
54ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.24582113
55EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.22762344
56YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.18182956
57YY1_21170310_ChIP-Seq_MESCs_Mouse1.15062562
58MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.14936655
59FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.11944320
60CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.11498943
61CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.11420141
62ZFP57_27257070_Chip-Seq_ESCs_Mouse1.10982041
63BMI1_23680149_ChIP-Seq_NPCS_Mouse1.08514683
64P300_19829295_ChIP-Seq_ESCs_Human1.07104355
65NANOG_19829295_ChIP-Seq_ESCs_Human1.06010946
66SOX2_19829295_ChIP-Seq_ESCs_Human1.06010946
67SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.05306063
68FOXA1_27270436_Chip-Seq_PROSTATE_Human1.04436443
69FOXA1_25329375_ChIP-Seq_VCAP_Human1.04436443
70NELFA_20434984_ChIP-Seq_ESCs_Mouse1.03154763
71AR_20517297_ChIP-Seq_VCAP_Human1.02975465
72POU5F1_16153702_ChIP-ChIP_HESCs_Human1.01588598
73CTBP1_25329375_ChIP-Seq_LNCAP_Human1.00659681
74CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.99556819
75RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.98896017
76IRF1_19129219_ChIP-ChIP_H3396_Human0.98367887
77FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.96525013
78IRF8_22096565_ChIP-ChIP_GC-B_Mouse0.94921429
79MYBL2_22936984_ChIP-ChIP_MESCs_Mouse0.93905469
80GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.92490831
81HTT_18923047_ChIP-ChIP_STHdh_Human0.91499322
82EZH2_27294783_Chip-Seq_NPCs_Mouse0.88122276
83GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.87805405
84CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.87401928
85ERG_20517297_ChIP-Seq_VCAP_Human0.86960149
86POU5F1_18555785_ChIP-Seq_MESCs_Mouse0.86760523
87ELF5_23300383_ChIP-Seq_T47D_Human0.85363900
88TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.84726213
89CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.84338547
90ER_23166858_ChIP-Seq_MCF-7_Human0.81542602
91ERG_20887958_ChIP-Seq_HPC-7_Mouse0.80874394
92PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse0.80366938
93CTBP2_25329375_ChIP-Seq_LNCAP_Human0.80280545
94AUTS2_25519132_ChIP-Seq_293T-REX_Human0.80169480
95NCOR_22424771_ChIP-Seq_293T_Human0.80033554
96NFE2_27457419_Chip-Seq_LIVER_Mouse0.79931628
97SUZ12_27294783_Chip-Seq_NPCs_Mouse0.79896679
98RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.78987428
99EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.78621771
100CRX_20693478_ChIP-Seq_RETINA_Mouse0.78197789

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0009379_abnormal_foot_pigmentation4.95870499
2MP0003806_abnormal_nucleotide_metabolis4.12679171
3MP0006072_abnormal_retinal_apoptosis2.93182235
4MP0006036_abnormal_mitochondrial_physio2.60757045
5MP0002837_dystrophic_cardiac_calcinosis2.43495240
6MP0003186_abnormal_redox_activity2.37240941
7MP0008877_abnormal_DNA_methylation2.23642787
8MP0008058_abnormal_DNA_repair2.16448374
9MP0003195_calcinosis2.12038966
10MP0002277_abnormal_respiratory_mucosa2.10935599
11MP0003718_maternal_effect2.10287688
12MP0006292_abnormal_olfactory_placode2.09003002
13MP0005671_abnormal_response_to2.08043543
14MP0002653_abnormal_ependyma_morphology1.90195179
15MP0008872_abnormal_physiological_respon1.81497073
16MP0002163_abnormal_gland_morphology1.76431943
17MP0004142_abnormal_muscle_tone1.74934153
18MP0002876_abnormal_thyroid_physiology1.73988941
19MP0005084_abnormal_gallbladder_morpholo1.72692899
20MP0004957_abnormal_blastocyst_morpholog1.70631092
21MP0005379_endocrine/exocrine_gland_phen1.65525226
22MP0003693_abnormal_embryo_hatching1.64754981
23MP0001188_hyperpigmentation1.63067194
24MP0002160_abnormal_reproductive_system1.59221147
25MP0003011_delayed_dark_adaptation1.56505199
26MP0005646_abnormal_pituitary_gland1.52964394
27MP0005389_reproductive_system_phenotype1.52682119
28MP0003786_premature_aging1.50740066
29MP0000516_abnormal_urinary_system1.50492311
30MP0005367_renal/urinary_system_phenotyp1.50492311
31MP0010386_abnormal_urinary_bladder1.50052642
32MP0001905_abnormal_dopamine_level1.47094652
33MP0002938_white_spotting1.44100849
34MP0001919_abnormal_reproductive_system1.41992757
35MP0003315_abnormal_perineum_morphology1.40343435
36MP0001764_abnormal_homeostasis1.39584428
37MP0005332_abnormal_amino_acid1.38960043
38MP0009046_muscle_twitch1.37277653
39MP0001835_abnormal_antigen_presentation1.35653409
40MP0010094_abnormal_chromosome_stability1.34870800
41MP0009697_abnormal_copulation1.33995381
42MP0003880_abnormal_central_pattern1.32438383
43MP0002148_abnormal_hypersensitivity_rea1.29923308
44MP0002102_abnormal_ear_morphology1.27889088
45MP0002736_abnormal_nociception_after1.27707724
46MP0005253_abnormal_eye_physiology1.27456119
47MP0001485_abnormal_pinna_reflex1.26587754
48MP0002638_abnormal_pupillary_reflex1.25896715
49MP0001968_abnormal_touch/_nociception1.24188229
50MP0000631_abnormal_neuroendocrine_gland1.22191061
51MP0004215_abnormal_myocardial_fiber1.19672799
52MP0005636_abnormal_mineral_homeostasis1.19496589
53MP0005645_abnormal_hypothalamus_physiol1.16956294
54MP0000372_irregular_coat_pigmentation1.14259242
55MP0003787_abnormal_imprinting1.13581843
56MP0005551_abnormal_eye_electrophysiolog1.10817351
57MP0002139_abnormal_hepatobiliary_system1.09955841
58MP0001529_abnormal_vocalization1.09737751
59MP0001756_abnormal_urination1.05231197
60MP0004885_abnormal_endolymph1.03809178
61MP0008875_abnormal_xenobiotic_pharmacok1.03150822
62MP0002090_abnormal_vision1.01157165
63MP0004145_abnormal_muscle_electrophysio1.00178276
64MP0002272_abnormal_nervous_system1.00156835
65MP0002095_abnormal_skin_pigmentation0.98043852
66MP0009785_altered_susceptibility_to0.97302419
67MP0003567_abnormal_fetal_cardiomyocyte0.97179027
68MP0005174_abnormal_tail_pigmentation0.96566752
69MP0000049_abnormal_middle_ear0.94175115
70MP0009745_abnormal_behavioral_response0.93303699
71MP0002210_abnormal_sex_determination0.91941937
72MP0009764_decreased_sensitivity_to0.91372220
73MP0004019_abnormal_vitamin_homeostasis0.91293813
74MP0005075_abnormal_melanosome_morpholog0.91156869
75MP0005410_abnormal_fertilization0.90763711
76MP0003111_abnormal_nucleus_morphology0.89330083
77MP0004133_heterotaxia0.89285751
78MP0006035_abnormal_mitochondrial_morpho0.87822752
79MP0008789_abnormal_olfactory_epithelium0.87746491
80MP0008873_increased_physiological_sensi0.83792430
81MP0002693_abnormal_pancreas_physiology0.82728279
82MP0008007_abnormal_cellular_replicative0.80671945
83MP0003123_paternal_imprinting0.80037188
84MP0001944_abnormal_pancreas_morphology0.77751088
85MP0003137_abnormal_impulse_conducting0.75140963
86MP0003077_abnormal_cell_cycle0.74797845
87MP0000653_abnormal_sex_gland0.74703791
88MP0004147_increased_porphyrin_level0.74623956
89MP0001145_abnormal_male_reproductive0.72958898
90MP0009333_abnormal_splenocyte_physiolog0.71656325
91MP0002138_abnormal_hepatobiliary_system0.71428651
92MP0002751_abnormal_autonomic_nervous0.70715038
93MP0009765_abnormal_xenobiotic_induced0.70705285
94MP0008995_early_reproductive_senescence0.68104135
95MP0001929_abnormal_gametogenesis0.67714824
96MP0001800_abnormal_humoral_immune0.67675420
97MP0008932_abnormal_embryonic_tissue0.67234861
98MP0001765_abnormal_ion_homeostasis0.65347246
99MP0000685_abnormal_immune_system0.65070072
100MP0001873_stomach_inflammation0.64708561

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)5.36277074
2Mitochondrial inheritance (HP:0001427)4.80390055
3Abnormal mitochondria in muscle tissue (HP:0008316)4.76120022
4Progressive macrocephaly (HP:0004481)4.66348060
53-Methylglutaconic aciduria (HP:0003535)4.62123416
6Increased hepatocellular lipid droplets (HP:0006565)4.58133311
7Abnormal activity of mitochondrial respiratory chain (HP:0011922)4.43833212
8Decreased activity of mitochondrial respiratory chain (HP:0008972)4.43833212
9Acute encephalopathy (HP:0006846)4.42491753
10Increased CSF lactate (HP:0002490)4.37554462
11Lipid accumulation in hepatocytes (HP:0006561)4.28529515
12Macrocytic anemia (HP:0001972)4.18832114
13Methylmalonic acidemia (HP:0002912)4.02134244
14Hepatocellular necrosis (HP:0001404)3.92523310
15Hepatic necrosis (HP:0002605)3.85888326
16Renal Fanconi syndrome (HP:0001994)3.77612945
17Congenital, generalized hypertrichosis (HP:0004540)3.71959359
18Abnormal number of erythroid precursors (HP:0012131)3.63889971
19Abnormality of cells of the erythroid lineage (HP:0012130)3.61771621
20Exertional dyspnea (HP:0002875)3.39616679
21Cerebral edema (HP:0002181)3.34225830
22Methylmalonic aciduria (HP:0012120)3.25769946
23Increased intramyocellular lipid droplets (HP:0012240)3.12165354
24Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)3.11477767
25Increased serum lactate (HP:0002151)2.95196007
26Lactic acidosis (HP:0003128)2.91498566
27Respiratory failure (HP:0002878)2.89964212
28Abnormality of renal resorption (HP:0011038)2.79176824
29Abnormality of methionine metabolism (HP:0010901)2.78752282
30Abnormality of aspartate family amino acid metabolism (HP:0010899)2.75798471
31Pallor (HP:0000980)2.75728885
32Reticulocytopenia (HP:0001896)2.70474402
33Glycosuria (HP:0003076)2.70366576
34Abnormality of urine glucose concentration (HP:0011016)2.70366576
35Increased muscle lipid content (HP:0009058)2.67990820
36Abnormality of alanine metabolism (HP:0010916)2.66738981
37Hyperalaninemia (HP:0003348)2.66738981
38Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.66738981
39Abnormality of vitamin B metabolism (HP:0004340)2.65200342
40Aplastic anemia (HP:0001915)2.64064930
41Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.62318512
42Leukodystrophy (HP:0002415)2.59913011
43Abnormality of the vitamin B12 metabolism (HP:0004341)2.54042070
44Abnormality of serum amino acid levels (HP:0003112)2.53536425
45Pancreatic cysts (HP:0001737)2.51670580
46Abnormality of midbrain morphology (HP:0002418)2.45940350
47Molar tooth sign on MRI (HP:0002419)2.45940350
48Lethargy (HP:0001254)2.45911638
49Megaloblastic anemia (HP:0001889)2.44303896
50Renal cortical cysts (HP:0000803)2.41934590
51Exercise intolerance (HP:0003546)2.37898177
52Optic disc pallor (HP:0000543)2.34178587
53Respiratory difficulties (HP:0002880)2.32265705
54Homocystinuria (HP:0002156)2.23356744
55Abnormality of homocysteine metabolism (HP:0010919)2.23356744
56Oral leukoplakia (HP:0002745)2.22825628
57Generalized aminoaciduria (HP:0002909)2.20846787
58Hypothermia (HP:0002045)2.18187612
59Type I transferrin isoform profile (HP:0003642)2.13056261
60Congenital nonbullous ichthyosiform erythroderma (HP:0007479)2.05269700
61Hyperphosphaturia (HP:0003109)2.05033605
62Abnormality of dicarboxylic acid metabolism (HP:0010995)2.02942009
63Dicarboxylic aciduria (HP:0003215)2.02942009
64Hyperglycinemia (HP:0002154)2.01542098
65Abnormality of the renal cortex (HP:0011035)2.00938318
66Medial flaring of the eyebrow (HP:0010747)1.98514189
67Nephronophthisis (HP:0000090)1.97257519
68Hypoglycemic coma (HP:0001325)1.95961807
69Aplasia/Hypoplasia of the sacrum (HP:0008517)1.91877288
70Cleft eyelid (HP:0000625)1.90595191
71Renal tubular dysfunction (HP:0000124)1.89305351
72CNS demyelination (HP:0007305)1.87568829
73Aplasia/hypoplasia of the uterus (HP:0008684)1.85566136
74Metabolic acidosis (HP:0001942)1.84555862
75Pancreatic fibrosis (HP:0100732)1.82036932
76Abnormality of the anterior horn cell (HP:0006802)1.80258962
77Degeneration of anterior horn cells (HP:0002398)1.80258962
78True hermaphroditism (HP:0010459)1.80102209
79IgG deficiency (HP:0004315)1.76192088
80X-linked dominant inheritance (HP:0001423)1.72693321
81Abnormal protein N-linked glycosylation (HP:0012347)1.70838200
82Abnormal protein glycosylation (HP:0012346)1.70838200
83Abnormal glycosylation (HP:0012345)1.70838200
84Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.70838200
85Colon cancer (HP:0003003)1.67337796
86Hypoplasia of the pons (HP:0012110)1.66794800
87Hyperinsulinemic hypoglycemia (HP:0000825)1.64930600
88Abnormality of vitamin metabolism (HP:0100508)1.64295020
89Large for gestational age (HP:0001520)1.62838678
90Woolly hair (HP:0002224)1.61902450
91Abnormality of the renal medulla (HP:0100957)1.59841157
92Abnormality of the pons (HP:0007361)1.59186693
93Abnormality of the middle phalanx of the 5th finger (HP:0004219)1.58233884
94Palpitations (HP:0001962)1.57771275
95Reduced antithrombin III activity (HP:0001976)1.56357240
96Paralysis (HP:0003470)1.55551690
97Confusion (HP:0001289)1.55471678
98Blindness (HP:0000618)1.54218798
99Abnormality of sulfur amino acid metabolism (HP:0004339)1.53830363
100Microretrognathia (HP:0000308)1.53784867

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TLK14.62146578
2STK164.26300303
3MST43.67729369
4BUB13.21030243
5VRK22.64229532
6NUAK12.25181120
7ZAK2.23357858
8VRK12.11241868
9MAP4K22.06631825
10CDK192.05186319
11MAP3K122.03307171
12ADRBK21.97679145
13BMPR1B1.93343077
14SRPK11.88651330
15FRK1.82312996
16NME11.79875591
17EIF2AK11.79398504
18WNK31.78671052
19EIF2AK31.71884102
20PLK41.59980129
21GRK11.59053422
22NME21.57910187
23TXK1.46121503
24PASK1.38837052
25PHKG21.37881758
26PHKG11.37881758
27TNIK1.32660478
28NEK11.32637809
29OXSR11.30278721
30CDC71.30109239
31ACVR1B1.25438294
32MYLK1.11356075
33MAP3K41.07735898
34PLK31.07488134
35MKNK21.04413288
36BCKDK0.97833420
37TAOK30.97606849
38MKNK10.97060243
39IKBKB0.92433358
40CSNK1G30.92339693
41INSRR0.91379231
42DYRK20.88877756
43STK240.88858252
44CSNK1G10.88827692
45TAF10.88695844
46CSNK1G20.87318398
47TRIM280.85322823
48WNK40.81109410
49MAP2K70.78766223
50PLK10.77996833
51TEC0.76758321
52ILK0.75414071
53STK390.73972051
54PINK10.73217154
55AURKB0.70557583
56CSNK2A20.70338144
57CSNK2A10.70033036
58PNCK0.69028465
59RPS6KA50.66628809
60RPS6KB20.60321591
61ERBB30.59880273
62PDK20.59600720
63BMPR20.59271277
64SCYL20.58052912
65DAPK30.55192796
66BRSK20.53528477
67LYN0.52639083
68ABL20.52431362
69TTK0.52360324
70DYRK30.51667007
71CCNB10.51259459
72CAMKK20.51103998
73TGFBR10.50850005
74PLK20.50776398
75CDK30.50618877
76EIF2AK20.50268699
77CSNK1A1L0.50049371
78PRKCG0.49191092
79MAP2K60.49010264
80CSNK1A10.48387991
81GRK70.47574247
82PRKCE0.44836964
83ITK0.43520930
84CDK80.41239614
85CHEK20.40692302
86CASK0.38723209
87WEE10.38556529
88CSNK1E0.37173086
89SYK0.37049077
90MAPK130.36580337
91STK30.36486379
92ADRBK10.36412142
93MATK0.36351965
94PRKACA0.35980862
95ATR0.35491725
96TIE10.33848601
97GRK60.33365275
98ATM0.33231426
99TESK20.31530609
100DAPK10.31497037

Predicted pathways (KEGG)

RankGene SetZ-score
1Ribosome_Homo sapiens_hsa030105.77849595
2Oxidative phosphorylation_Homo sapiens_hsa001904.73551754
3Protein export_Homo sapiens_hsa030603.90533051
4Parkinsons disease_Homo sapiens_hsa050123.73167137
5Proteasome_Homo sapiens_hsa030503.17643244
6RNA polymerase_Homo sapiens_hsa030202.66463980
7Huntingtons disease_Homo sapiens_hsa050162.54688100
8Alzheimers disease_Homo sapiens_hsa050102.44843348
9Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.28086577
10Asthma_Homo sapiens_hsa053102.26591622
11Homologous recombination_Homo sapiens_hsa034402.18665588
12Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.00397115
13Collecting duct acid secretion_Homo sapiens_hsa049661.87143515
14Basal transcription factors_Homo sapiens_hsa030221.79763888
15Cardiac muscle contraction_Homo sapiens_hsa042601.72719800
16Intestinal immune network for IgA production_Homo sapiens_hsa046721.67893320
17Mismatch repair_Homo sapiens_hsa034301.66938010
18Allograft rejection_Homo sapiens_hsa053301.60784972
19Nucleotide excision repair_Homo sapiens_hsa034201.59294712
20RNA degradation_Homo sapiens_hsa030181.55063882
21Type I diabetes mellitus_Homo sapiens_hsa049401.54624094
22Spliceosome_Homo sapiens_hsa030401.50892966
23Autoimmune thyroid disease_Homo sapiens_hsa053201.49825640
24Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.47546827
25One carbon pool by folate_Homo sapiens_hsa006701.46513165
26Graft-versus-host disease_Homo sapiens_hsa053321.42182845
27Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.39342401
28DNA replication_Homo sapiens_hsa030301.33962231
29Maturity onset diabetes of the young_Homo sapiens_hsa049501.24959028
30Sulfur metabolism_Homo sapiens_hsa009201.24582553
31Pyrimidine metabolism_Homo sapiens_hsa002401.24114483
32Folate biosynthesis_Homo sapiens_hsa007901.19730536
33Rheumatoid arthritis_Homo sapiens_hsa053231.17370815
34RNA transport_Homo sapiens_hsa030131.14886223
35Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.10438449
36Fanconi anemia pathway_Homo sapiens_hsa034600.99041505
37Regulation of autophagy_Homo sapiens_hsa041400.94119075
38Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.93653019
39Purine metabolism_Homo sapiens_hsa002300.92762269
40Base excision repair_Homo sapiens_hsa034100.88630919
41Propanoate metabolism_Homo sapiens_hsa006400.85624775
42Vitamin digestion and absorption_Homo sapiens_hsa049770.83174449
43Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.83004995
44Sulfur relay system_Homo sapiens_hsa041220.80266353
45Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.78202320
46Caffeine metabolism_Homo sapiens_hsa002320.77654584
47Systemic lupus erythematosus_Homo sapiens_hsa053220.75048674
48Chemical carcinogenesis_Homo sapiens_hsa052040.71087119
49Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.69111277
50Pentose and glucuronate interconversions_Homo sapiens_hsa000400.68589140
51Tryptophan metabolism_Homo sapiens_hsa003800.67515463
52Metabolic pathways_Homo sapiens_hsa011000.65717443
53Fatty acid elongation_Homo sapiens_hsa000620.65401148
54Drug metabolism - other enzymes_Homo sapiens_hsa009830.65314417
55Phototransduction_Homo sapiens_hsa047440.64790781
56Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.64192584
57Antigen processing and presentation_Homo sapiens_hsa046120.62256525
58Peroxisome_Homo sapiens_hsa041460.62253197
59Linoleic acid metabolism_Homo sapiens_hsa005910.62099207
60Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.61465232
61Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.60943678
62Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.59682456
63Glutathione metabolism_Homo sapiens_hsa004800.56776557
64Non-homologous end-joining_Homo sapiens_hsa034500.55920014
65Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.55342494
66Retinol metabolism_Homo sapiens_hsa008300.54746832
67Mineral absorption_Homo sapiens_hsa049780.54376081
68Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.53511722
69alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.51872164
70Selenocompound metabolism_Homo sapiens_hsa004500.47711011
71Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.44827180
72Butanoate metabolism_Homo sapiens_hsa006500.44757298
73SNARE interactions in vesicular transport_Homo sapiens_hsa041300.44699123
74Pyruvate metabolism_Homo sapiens_hsa006200.44555760
75Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.43705024
76Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.43683855
77Steroid hormone biosynthesis_Homo sapiens_hsa001400.43444952
78Cysteine and methionine metabolism_Homo sapiens_hsa002700.42783475
79Arachidonic acid metabolism_Homo sapiens_hsa005900.41596228
80Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.38011926
81Primary immunodeficiency_Homo sapiens_hsa053400.37362133
82Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.36833202
83Nicotine addiction_Homo sapiens_hsa050330.34923891
84Epstein-Barr virus infection_Homo sapiens_hsa051690.34142282
85Viral myocarditis_Homo sapiens_hsa054160.32255315
86Nitrogen metabolism_Homo sapiens_hsa009100.30714809
87Staphylococcus aureus infection_Homo sapiens_hsa051500.30648626
88beta-Alanine metabolism_Homo sapiens_hsa004100.30414389
89Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.29863905
90Fatty acid degradation_Homo sapiens_hsa000710.29749869
91Vitamin B6 metabolism_Homo sapiens_hsa007500.28791466
92Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.26674045
93Ether lipid metabolism_Homo sapiens_hsa005650.24190858
94Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.23865428
95Fat digestion and absorption_Homo sapiens_hsa049750.23611778
96Steroid biosynthesis_Homo sapiens_hsa001000.21766721
97Vibrio cholerae infection_Homo sapiens_hsa051100.19760666
98p53 signaling pathway_Homo sapiens_hsa041150.18870268
99Primary bile acid biosynthesis_Homo sapiens_hsa001200.16092607
100Herpes simplex infection_Homo sapiens_hsa051680.14958187

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