RPS4Y1

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: Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes ribosomal protein S4, a component of the 40S subunit. Ribosomal protein S4 is the only ribosomal protein known to be encoded by more than one gene, namely this gene and ribosomal protein S4, X-linked (RPS4X). The 2 isoforms encoded by these genes are not identical, but are functionally equivalent. Ribosomal protein S4 belongs to the S4E family of ribosomal proteins. It has been suggested that haploinsufficiency of the ribosomal protein S4 genes plays a role in Turner syndrome; however, this hypothesis is controversial. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* SRP-dependent cotranslational protein targeting to membrane (GO:0006614)8.85691385
2* cotranslational protein targeting to membrane (GO:0006613)8.76928720
3* protein targeting to ER (GO:0045047)8.76336352
4ribosomal small subunit biogenesis (GO:0042274)8.61444987
5* establishment of protein localization to endoplasmic reticulum (GO:0072599)8.39756370
6* translational elongation (GO:0006414)8.18582854
7* protein localization to endoplasmic reticulum (GO:0070972)8.16847502
8mitochondrial ATP synthesis coupled proton transport (GO:0042776)7.70134209
9* viral life cycle (GO:0019058)7.69465618
10* cellular protein complex disassembly (GO:0043624)7.50729195
11* nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)7.40835797
12* translational initiation (GO:0006413)6.88136580
13energy coupled proton transport, down electrochemical gradient (GO:0015985)6.52306735
14ATP synthesis coupled proton transport (GO:0015986)6.52306735
15* protein complex disassembly (GO:0043241)6.28128727
16maturation of SSU-rRNA (GO:0030490)6.25723591
17* protein targeting to membrane (GO:0006612)5.90853646
18* macromolecular complex disassembly (GO:0032984)5.84103371
19establishment of protein localization to mitochondrial membrane (GO:0090151)5.60400711
20ribosomal large subunit biogenesis (GO:0042273)5.56773010
21mitochondrial electron transport, NADH to ubiquinone (GO:0006120)5.54232249
22chaperone-mediated protein transport (GO:0072321)5.48909634
23respiratory electron transport chain (GO:0022904)5.30924757
24* translation (GO:0006412)5.24714393
25* nuclear-transcribed mRNA catabolic process (GO:0000956)5.14752728
26electron transport chain (GO:0022900)5.14726391
27* mRNA catabolic process (GO:0006402)4.88764047
28protein complex biogenesis (GO:0070271)4.44666812
29* RNA catabolic process (GO:0006401)4.39986673
30mitochondrial respiratory chain complex I biogenesis (GO:0097031)4.14159658
31mitochondrial respiratory chain complex I assembly (GO:0032981)4.14159658
32NADH dehydrogenase complex assembly (GO:0010257)4.14159658
33water-soluble vitamin biosynthetic process (GO:0042364)4.05381409
34* establishment of protein localization to membrane (GO:0090150)4.00097406
35mitochondrial respiratory chain complex assembly (GO:0033108)3.98206050
36ribonucleoprotein complex biogenesis (GO:0022613)3.83349895
37protein neddylation (GO:0045116)3.79309197
38* protein targeting (GO:0006605)3.71230805
39termination of RNA polymerase III transcription (GO:0006386)3.70397413
40transcription elongation from RNA polymerase III promoter (GO:0006385)3.70397413
41cellular component biogenesis (GO:0044085)3.69935094
42hydrogen ion transmembrane transport (GO:1902600)3.61397639
43regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)3.44093504
44cytochrome complex assembly (GO:0017004)3.40409852
45* establishment of protein localization to organelle (GO:0072594)3.39945873
46ATP biosynthetic process (GO:0006754)3.28654234
47nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.24094647
48regulation of non-canonical Wnt signaling pathway (GO:2000050)3.23962143
49respiratory chain complex IV assembly (GO:0008535)3.23402101
50oxidative phosphorylation (GO:0006119)3.17194556
51* protein localization to membrane (GO:0072657)3.16760818
52proton transport (GO:0015992)3.14561389
53hydrogen transport (GO:0006818)3.10663696
54establishment of integrated proviral latency (GO:0075713)3.08146909
55exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.05825768
56purine ribonucleoside triphosphate biosynthetic process (GO:0009206)3.01860878
57purine nucleoside triphosphate biosynthetic process (GO:0009145)2.98168943
58regulation of cholesterol esterification (GO:0010872)2.97904375
59otic vesicle formation (GO:0030916)2.97609478
60aerobic respiration (GO:0009060)2.96765092
61DNA damage response, detection of DNA damage (GO:0042769)2.90568450
62rRNA modification (GO:0000154)2.85963455
63sequestering of actin monomers (GO:0042989)2.82933680
64regulation of mitochondrial translation (GO:0070129)2.79712712
65inner mitochondrial membrane organization (GO:0007007)2.75531866
66protein targeting to mitochondrion (GO:0006626)2.75506518
67spliceosomal complex assembly (GO:0000245)2.75035044
68aldehyde catabolic process (GO:0046185)2.73624760
69establishment of protein localization to mitochondrion (GO:0072655)2.73166964
70short-term memory (GO:0007614)2.71324539
71peptidyl-histidine modification (GO:0018202)2.68854401
72plasma lipoprotein particle assembly (GO:0034377)2.65358424
73vitamin biosynthetic process (GO:0009110)2.63226137
74L-ascorbic acid metabolic process (GO:0019852)2.62381409
75intracellular protein transmembrane import (GO:0044743)2.61474231
767-methylguanosine mRNA capping (GO:0006370)2.58749431
77rRNA processing (GO:0006364)2.57431581
78deoxyribonucleoside triphosphate metabolic process (GO:0009200)2.56587544
79formation of translation preinitiation complex (GO:0001731)2.53357341
80neuron fate determination (GO:0048664)2.52817083
81spliceosomal snRNP assembly (GO:0000387)2.52652470
82establishment of viral latency (GO:0019043)2.52264039
837-methylguanosine RNA capping (GO:0009452)2.52169870
84RNA capping (GO:0036260)2.52169870
85ribonucleoside triphosphate biosynthetic process (GO:0009201)2.51873918
86radial glial cell differentiation (GO:0060019)2.51648418
87protein localization to mitochondrion (GO:0070585)2.51637002
88platelet dense granule organization (GO:0060155)2.50077964
89rRNA methylation (GO:0031167)2.49493915
90* protein localization to organelle (GO:0033365)2.47465852
91pyrimidine deoxyribonucleotide catabolic process (GO:0009223)2.44852991
92regulation of oxidative phosphorylation (GO:0002082)2.44834690
93rRNA metabolic process (GO:0016072)2.44486015
94proteasome assembly (GO:0043248)2.39408620
95glutathione derivative metabolic process (GO:1901685)2.37301599
96glutathione derivative biosynthetic process (GO:1901687)2.37301599
97mitochondrial transport (GO:0006839)2.35270008
98* viral transcription (GO:0019083)10.5518743
99ribosomal small subunit assembly (GO:0000028)10.2482354
100* translational termination (GO:0006415)10.0818361

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse5.19402906
2GABP_17652178_ChIP-ChIP_JURKAT_Human5.08399975
3* EST1_17652178_ChIP-ChIP_JURKAT_Human4.73378811
4SOX9_22984422_ChIP-ChIP_TESTIS_Rat4.23846558
5KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.97327097
6MYC_18555785_ChIP-Seq_MESCs_Mouse3.78120568
7HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse3.50562871
8RBPJ_22232070_ChIP-Seq_NCS_Mouse3.39352699
9HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human3.22776796
10CHD1_19587682_ChIP-ChIP_MESCs_Mouse3.07017835
11ETS1_20019798_ChIP-Seq_JURKAT_Human3.00365622
12CREB1_15753290_ChIP-ChIP_HEK293T_Human2.84372178
13MYC_19079543_ChIP-ChIP_MESCs_Mouse2.79734670
14HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.74139409
15ELK1_19687146_ChIP-ChIP_HELA_Human2.70872683
16JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.63277164
17BP1_19119308_ChIP-ChIP_Hs578T_Human2.33666131
18* FOXP3_21729870_ChIP-Seq_TREG_Human2.27639169
19MYC_18358816_ChIP-ChIP_MESCs_Mouse2.07926537
20VDR_23849224_ChIP-Seq_CD4+_Human2.07584189
21MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.04010556
22MYC_19030024_ChIP-ChIP_MESCs_Mouse2.03552202
23TTF2_22483619_ChIP-Seq_HELA_Human2.00000633
24ELF1_17652178_ChIP-ChIP_JURKAT_Human1.98176618
25EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.92987922
26PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.91013170
27SOX2_18555785_ChIP-Seq_MESCs_Mouse1.89636869
28CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.86571349
29CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.83758938
30KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.80427573
31KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.80427573
32KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.80427573
33SRF_21415370_ChIP-Seq_HL-1_Mouse1.79149615
34XRN2_22483619_ChIP-Seq_HELA_Human1.77497094
35HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.76364256
36E2F1_18555785_ChIP-Seq_MESCs_Mouse1.70179194
37SOX2_16153702_ChIP-ChIP_HESCs_Human1.70010009
38ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.65858877
39CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.63626170
40ZNF274_21170338_ChIP-Seq_K562_Hela1.60858097
41MYC_18940864_ChIP-ChIP_HL60_Human1.57482987
42POU5F1_16153702_ChIP-ChIP_HESCs_Human1.54882427
43ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.54647967
44FLI1_27457419_Chip-Seq_LIVER_Mouse1.52496848
45YY1_21170310_ChIP-Seq_MESCs_Mouse1.51380811
46NANOG_16153702_ChIP-ChIP_HESCs_Human1.51277041
47THAP11_20581084_ChIP-Seq_MESCs_Mouse1.48202294
48ELK1_22589737_ChIP-Seq_MCF10A_Human1.45275087
49TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.43224334
50FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.42524117
51CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.40749731
52PCGF2_27294783_Chip-Seq_ESCs_Mouse1.38931277
53ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.37394331
54POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.33589133
55TCF3_18692474_ChIP-Seq_MEFs_Mouse1.31652807
56EWS_26573619_Chip-Seq_HEK293_Human1.30566014
57YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.30138885
58POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.26401657
59SOX2_18692474_ChIP-Seq_MEFs_Mouse1.21621989
60HOXB4_20404135_ChIP-ChIP_EML_Mouse1.19629828
61NELFA_20434984_ChIP-Seq_ESCs_Mouse1.16566607
62DCP1A_22483619_ChIP-Seq_HELA_Human1.15917143
63VDR_22108803_ChIP-Seq_LS180_Human1.13443408
64FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.12323543
65GABP_19822575_ChIP-Seq_HepG2_Human1.11713049
66KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.08639576
67MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.08579427
68IRF1_19129219_ChIP-ChIP_H3396_Human1.07442842
69P300_19829295_ChIP-Seq_ESCs_Human1.06536159
70NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.04320505
71TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.99664378
72CTCF_18555785_ChIP-Seq_MESCs_Mouse0.98587903
73OCT4_18692474_ChIP-Seq_MEFs_Mouse0.98322613
74GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.96655099
75NANOG_18555785_ChIP-Seq_MESCs_Mouse0.94901788
76POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.94291265
77SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.89988732
78* MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.87684943
79TP63_19390658_ChIP-ChIP_HaCaT_Human0.87318719
80FUS_26573619_Chip-Seq_HEK293_Human0.86515843
81SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.85753929
82CTBP1_25329375_ChIP-Seq_LNCAP_Human0.85507496
83NOTCH1_17114293_ChIP-ChIP_T-ALL_Human0.84177723
84IGF1R_20145208_ChIP-Seq_DFB_Human0.82932812
85TCF3_18692474_ChIP-Seq_MESCs_Mouse0.81917126
86PADI4_21655091_ChIP-ChIP_MCF-7_Human0.80079731
87AR_20517297_ChIP-Seq_VCAP_Human0.79514777
88ETV2_25802403_ChIP-Seq_MESCs_Mouse0.78860501
89PIAS1_25552417_ChIP-Seq_VCAP_Human0.78142027
90* NANOG_19829295_ChIP-Seq_ESCs_Human0.77313326
91* SOX2_19829295_ChIP-Seq_ESCs_Human0.77313326
92HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.76220077
93PCGF2_27294783_Chip-Seq_NPCs_Mouse0.74418218
94NACC1_18358816_ChIP-ChIP_MESCs_Mouse0.73037300
95NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.71932552
96NANOG_18692474_ChIP-Seq_MEFs_Mouse0.71239601
97SOX17_20123909_ChIP-Seq_XEN_Mouse0.70872679
98KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.70485167
99FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.69134264
100SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.68230832

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0009379_abnormal_foot_pigmentation8.42854881
2MP0006292_abnormal_olfactory_placode4.44398330
3MP0003122_maternal_imprinting4.11522090
4MP0003136_yellow_coat_color3.35450444
5MP0002139_abnormal_hepatobiliary_system2.91688313
6MP0005084_abnormal_gallbladder_morpholo2.70234634
7MP0001293_anophthalmia2.57528963
8MP0003941_abnormal_skin_development2.51355417
9MP0003121_genomic_imprinting2.26927013
10MP0002277_abnormal_respiratory_mucosa2.18585339
11MP0003011_delayed_dark_adaptation2.12775400
12MP0005085_abnormal_gallbladder_physiolo2.12118457
13MP0003806_abnormal_nucleotide_metabolis2.09259429
14MP0002938_white_spotting2.08407860
15MP0002132_abnormal_respiratory_system2.03060389
16MP0003567_abnormal_fetal_cardiomyocyte1.99539043
17MP0005365_abnormal_bile_salt1.94942391
18MP0003186_abnormal_redox_activity1.90625164
19MP0003315_abnormal_perineum_morphology1.84606207
20MP0001986_abnormal_taste_sensitivity1.72624109
21MP0003123_paternal_imprinting1.72391241
22MP0004142_abnormal_muscle_tone1.67689507
23MP0008995_early_reproductive_senescence1.57136155
24MP0004133_heterotaxia1.56234839
25MP0002138_abnormal_hepatobiliary_system1.50512672
26MP0006072_abnormal_retinal_apoptosis1.49413069
27MP0002653_abnormal_ependyma_morphology1.41943467
28MP0001286_abnormal_eye_development1.37917688
29MP0001666_abnormal_nutrient_absorption1.36557784
30MP0000566_synostosis1.35890098
31MP0004019_abnormal_vitamin_homeostasis1.34902506
32MP0003938_abnormal_ear_development1.33541123
33MP0006054_spinal_hemorrhage1.32692524
34MP0001529_abnormal_vocalization1.32362765
35MP0005377_hearing/vestibular/ear_phenot1.32003404
36MP0003878_abnormal_ear_physiology1.32003404
37MP0002233_abnormal_nose_morphology1.29932948
38MP0000049_abnormal_middle_ear1.27997935
39MP0001485_abnormal_pinna_reflex1.21020250
40MP0002697_abnormal_eye_size1.17879448
41MP0002254_reproductive_system_inflammat1.15520060
42MP0003283_abnormal_digestive_organ1.14352375
43MP0008789_abnormal_olfactory_epithelium1.07892930
44MP0000516_abnormal_urinary_system1.07206881
45MP0005367_renal/urinary_system_phenotyp1.07206881
46MP0003252_abnormal_bile_duct1.07056812
47MP0003718_maternal_effect1.06937963
48MP0002638_abnormal_pupillary_reflex1.06302076
49MP0008058_abnormal_DNA_repair1.04885943
50MP0001984_abnormal_olfaction1.03591333
51MP0008877_abnormal_DNA_methylation1.02955159
52MP0003195_calcinosis1.00251706
53MP0002751_abnormal_autonomic_nervous0.92705508
54MP0002295_abnormal_pulmonary_circulatio0.91818512
55MP0006036_abnormal_mitochondrial_physio0.91320720
56MP0005360_urolithiasis0.90172601
57MP0010368_abnormal_lymphatic_system0.89574571
58MP0005551_abnormal_eye_electrophysiolog0.86308248
59MP0005195_abnormal_posterior_eye0.86044295
60MP0008004_abnormal_stomach_pH0.85522388
61MP0010030_abnormal_orbit_morphology0.84519737
62MP0000026_abnormal_inner_ear0.83383170
63MP0002282_abnormal_trachea_morphology0.82844311
64MP0003755_abnormal_palate_morphology0.81117181
65MP0001905_abnormal_dopamine_level0.79797259
66MP0003787_abnormal_imprinting0.79704592
67MP0002092_abnormal_eye_morphology0.79510926
68MP0005391_vision/eye_phenotype0.78929299
69MP0001324_abnormal_eye_pigmentation0.77821556
70MP0005499_abnormal_olfactory_system0.77225578
71MP0005394_taste/olfaction_phenotype0.77225578
72MP0009840_abnormal_foam_cell0.75985952
73MP0010329_abnormal_lipoprotein_level0.75626183
74MP0000631_abnormal_neuroendocrine_gland0.75618894
75MP0004742_abnormal_vestibular_system0.74667914
76MP0005408_hypopigmentation0.70504842
77MP0002736_abnormal_nociception_after0.69601484
78MP0003937_abnormal_limbs/digits/tail_de0.65782503
79MP0008875_abnormal_xenobiotic_pharmacok0.64765910
80MP0004957_abnormal_blastocyst_morpholog0.62365012
81MP0003119_abnormal_digestive_system0.61820580
82MP0006035_abnormal_mitochondrial_morpho0.61820407
83MP0009053_abnormal_anal_canal0.61293960
84MP0001853_heart_inflammation0.60799708
85MP0010386_abnormal_urinary_bladder0.60067242
86MP0002090_abnormal_vision0.59966687
87MP0009250_abnormal_appendicular_skeleto0.59423970
88MP0002111_abnormal_tail_morphology0.59359951
89MP0005636_abnormal_mineral_homeostasis0.58888069
90MP0005332_abnormal_amino_acid0.58627564
91MP0004883_abnormal_blood_vessel0.57361620
92MP0001879_abnormal_lymphatic_vessel0.56095679
93MP0006082_CNS_inflammation0.54472313
94MP0002095_abnormal_skin_pigmentation0.53388853
95MP0000778_abnormal_nervous_system0.53353521
96MP0001663_abnormal_digestive_system0.53219402
97MP0001764_abnormal_homeostasis0.52990686
98MP0002752_abnormal_somatic_nervous0.50573356
99MP0000428_abnormal_craniofacial_morphol0.48185668
100MP0003693_abnormal_embryo_hatching0.47790214

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of cells of the erythroid lineage (HP:0012130)6.29507681
2Reticulocytopenia (HP:0001896)5.91818566
3Abnormal number of erythroid precursors (HP:0012131)5.75689535
4Macrocytic anemia (HP:0001972)5.64820522
5Acute necrotizing encephalopathy (HP:0006965)5.37412726
6Increased hepatocellular lipid droplets (HP:0006565)5.03913193
7Mitochondrial inheritance (HP:0001427)4.72328115
8Acute encephalopathy (HP:0006846)4.59309498
9Lipid accumulation in hepatocytes (HP:0006561)4.57586808
10Septo-optic dysplasia (HP:0100842)4.45897152
11Abnormal mitochondria in muscle tissue (HP:0008316)4.45231098
12Progressive macrocephaly (HP:0004481)4.40160748
13Hepatocellular necrosis (HP:0001404)4.21222353
14Renal Fanconi syndrome (HP:0001994)3.91325116
15Increased CSF lactate (HP:0002490)3.88054660
16Pallor (HP:0000980)3.78064817
17Exertional dyspnea (HP:0002875)3.53893317
18Hepatic necrosis (HP:0002605)3.53389396
19Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)3.36637486
20Aplastic anemia (HP:0001915)3.30229995
21Colon cancer (HP:0003003)3.14845784
22Cerebral edema (HP:0002181)3.11697466
23Respiratory difficulties (HP:0002880)3.02722357
24Congenital, generalized hypertrichosis (HP:0004540)2.97282073
25Partial duplication of thumb phalanx (HP:0009944)2.88011736
26Increased intramyocellular lipid droplets (HP:0012240)2.71048676
27True hermaphroditism (HP:0010459)2.71021210
28Hyperglycinemia (HP:0002154)2.63663491
29Partial duplication of the phalanx of hand (HP:0009999)2.61798415
30Respiratory failure (HP:0002878)2.57928527
31Abnormality of renal resorption (HP:0011038)2.54018836
32Pancreatic fibrosis (HP:0100732)2.52997880
333-Methylglutaconic aciduria (HP:0003535)2.50764315
34Maternal diabetes (HP:0009800)2.50233571
35Hyperphosphaturia (HP:0003109)2.50201834
36Depressed nasal ridge (HP:0000457)2.48557322
37Oral leukoplakia (HP:0002745)2.46451579
38Abnormality of urine glucose concentration (HP:0011016)2.42361519
39Glycosuria (HP:0003076)2.42361519
40Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.42202853
41Abnormal biliary tract physiology (HP:0012439)2.37099208
42Bile duct proliferation (HP:0001408)2.37099208
43Optic disc pallor (HP:0000543)2.35144329
44Stenosis of the external auditory canal (HP:0000402)2.34403479
45Leukodystrophy (HP:0002415)2.33506502
46Pancreatic cysts (HP:0001737)2.32418372
47Multiple enchondromatosis (HP:0005701)2.25862789
48Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.23184457
49Decreased activity of mitochondrial respiratory chain (HP:0008972)2.23184457
50Absent septum pellucidum (HP:0001331)2.21555299
51Increased muscle lipid content (HP:0009058)2.17684124
52Optic nerve hypoplasia (HP:0000609)2.17300633
53Bilateral microphthalmos (HP:0007633)2.15955580
54Exercise intolerance (HP:0003546)2.15465239
55Nephronophthisis (HP:0000090)2.12661815
56Methylmalonic aciduria (HP:0012120)2.12562098
57Deep venous thrombosis (HP:0002625)2.12350612
58Supernumerary spleens (HP:0009799)2.11552799
59Methylmalonic acidemia (HP:0002912)2.10362631
60Lactic acidosis (HP:0003128)2.09239541
61Anophthalmia (HP:0000528)2.06611675
62Prolonged partial thromboplastin time (HP:0003645)2.06261681
63Azoospermia (HP:0000027)2.03455259
64Lethargy (HP:0001254)1.99482416
65Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.99371969
66Renal tubular dysfunction (HP:0000124)1.99252701
67Abnormality of aspartate family amino acid metabolism (HP:0010899)1.97711791
68Male pseudohermaphroditism (HP:0000037)1.97330808
69Complement deficiency (HP:0004431)1.95712862
70Abnormality of the labia minora (HP:0012880)1.95081409
71Abnormality of midbrain morphology (HP:0002418)1.94261821
72Molar tooth sign on MRI (HP:0002419)1.94261821
73Increased serum lactate (HP:0002151)1.94212635
74Systemic lupus erythematosus (HP:0002725)1.92831425
75Abnormality of methionine metabolism (HP:0010901)1.92234663
76Medial flaring of the eyebrow (HP:0010747)1.90495085
77Rib fusion (HP:0000902)1.90170996
78Anencephaly (HP:0002323)1.88466248
79Hyperglycinuria (HP:0003108)1.87089806
80Growth hormone deficiency (HP:0000824)1.86090832
81Myokymia (HP:0002411)1.85919025
82Abnormal urine phosphate concentration (HP:0012599)1.83630423
83Abnormality of glycine metabolism (HP:0010895)1.83418218
84Abnormality of serine family amino acid metabolism (HP:0010894)1.83418218
85Intestinal atresia (HP:0011100)1.83298189
86Abnormality of the septum pellucidum (HP:0007375)1.83131422
87Broad alveolar ridges (HP:0000187)1.78553555
88Pancreatic islet-cell hyperplasia (HP:0004510)1.77598762
89Thrombocytosis (HP:0001894)1.77562234
90Abnormality of the axillary hair (HP:0100134)1.74519937
91Abnormality of secondary sexual hair (HP:0009888)1.74519937
92Abnormality of serum amino acid levels (HP:0003112)1.71794667
93Aplasia/Hypoplasia of the sacrum (HP:0008517)1.70685104
94Vitreoretinal degeneration (HP:0000655)1.70179147
95CNS demyelination (HP:0007305)1.70003921
96Hypobetalipoproteinemia (HP:0003563)1.69665084
97Abnormality of aromatic amino acid family metabolism (HP:0004338)1.67707671
98Hypothermia (HP:0002045)1.66779681
99Migraine (HP:0002076)1.65771151
100Abnormal rod and cone electroretinograms (HP:0008323)1.63934599

Predicted kinase interactions (KEA)

RankGene SetZ-score
1VRK25.13779611
2CDK194.19965929
3STK163.53662854
4TIE12.99090327
5TNIK2.96188476
6TAF12.93840096
7VRK12.63700110
8DYRK22.57893463
9PASK2.39509485
10NME12.25815253
11CDC72.12469139
12EPHB22.07812814
13TGFBR11.91806073
14MKNK11.75434053
15MAPK151.73469687
16ZAK1.70030986
17MKNK21.54471066
18TYRO31.46072881
19NUAK11.45454359
20DYRK31.44488404
21LRRK21.44097251
22BMPR1B1.43597340
23MAP3K101.42589956
24PLK31.41965747
25GRK11.40629709
26NLK1.39290638
27PBK1.38589914
28WNK31.36450917
29NME21.35721531
30SRPK11.27992604
31BCKDK1.15317713
32DDR21.14699741
33FGR1.10777850
34MST41.04570413
35MAP3K121.02834987
36TEC1.01601518
37WNK41.00734027
38PRKCG1.00547250
39PRKD30.99209869
40DYRK1B0.94943326
41CSNK2A20.90070512
42FGFR20.89486114
43TGFBR20.88111269
44KIT0.86385252
45FES0.82877359
46ADRBK20.81186582
47MYLK0.81183210
48PNCK0.79710252
49PIK3CA0.77646599
50MAP4K20.77601431
51MAP4K10.74416107
52PAK20.74300070
53DAPK30.70986260
54CSNK2A10.69882730
55AKT30.69142842
56CDK30.67944801
57EPHA40.66905379
58MATK0.64362761
59STK240.63303332
60ACVR1B0.62045524
61PRKCQ0.61827004
62ABL20.60181149
63CDK80.59138095
64NEK20.53227260
65MARK20.52394223
66CSNK1E0.52321505
67TSSK60.51607408
68PLK10.49903268
69ITK0.49246731
70LYN0.44687168
71BUB10.43721718
72CAMK10.43108441
73CSNK1G10.42855525
74PINK10.42747013
75PRKG10.42624407
76MAP3K110.41751087
77OXSR10.39245720
78MAPKAPK50.37624009
79STK390.36292640
80RPS6KB20.35719882
81PRKCE0.35156327
82EIF2AK30.34925680
83SGK2230.34873372
84SGK4940.34873372
85PRKCD0.34734111
86PRPF4B0.33413577
87AURKB0.32431915
88TAOK20.31986399
89CSNK1A10.31733121
90PRKACA0.30801890
91RPS6KA50.30394256
92GRK70.28557266
93CAMK1D0.28354394
94TNK20.28205956
95FGFR10.27584295
96DYRK1A0.27581378
97RPS6KA40.26585413
98CSNK1G20.26578043
99KDR0.25955179
100PIM10.25899145

Predicted pathways (KEGG)

RankGene SetZ-score
1* Ribosome_Homo sapiens_hsa030107.71682601
2Oxidative phosphorylation_Homo sapiens_hsa001904.87104815
3Parkinsons disease_Homo sapiens_hsa050124.06853768
4Protein export_Homo sapiens_hsa030603.23173969
5Huntingtons disease_Homo sapiens_hsa050162.86219535
6Alzheimers disease_Homo sapiens_hsa050102.66185552
7RNA polymerase_Homo sapiens_hsa030202.58593194
8Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.57044135
9Proteasome_Homo sapiens_hsa030502.55867484
10Cardiac muscle contraction_Homo sapiens_hsa042602.10087043
11Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.91238607
12Vitamin digestion and absorption_Homo sapiens_hsa049771.91171632
13Spliceosome_Homo sapiens_hsa030401.67845620
14Glutathione metabolism_Homo sapiens_hsa004801.51834995
15Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.45715793
16Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.45297254
17Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.43446263
18Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.41093591
19Chemical carcinogenesis_Homo sapiens_hsa052041.40558379
20Pentose and glucuronate interconversions_Homo sapiens_hsa000401.34013795
21Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.32579287
22Basal transcription factors_Homo sapiens_hsa030221.30125090
23Primary bile acid biosynthesis_Homo sapiens_hsa001201.29849537
24Complement and coagulation cascades_Homo sapiens_hsa046101.22662938
25RNA degradation_Homo sapiens_hsa030181.21791014
26Mismatch repair_Homo sapiens_hsa034301.13114387
27Fat digestion and absorption_Homo sapiens_hsa049751.08399744
28Propanoate metabolism_Homo sapiens_hsa006401.03337098
29Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.02697568
30Retinol metabolism_Homo sapiens_hsa008300.97933228
31Homologous recombination_Homo sapiens_hsa034400.97843980
32Fatty acid degradation_Homo sapiens_hsa000710.97633011
33Peroxisome_Homo sapiens_hsa041460.97028402
34Nucleotide excision repair_Homo sapiens_hsa034200.95294240
35Pyrimidine metabolism_Homo sapiens_hsa002400.92794543
36Butanoate metabolism_Homo sapiens_hsa006500.92488502
37Folate biosynthesis_Homo sapiens_hsa007900.90109786
38Staphylococcus aureus infection_Homo sapiens_hsa051500.87147489
39Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.85329589
40Base excision repair_Homo sapiens_hsa034100.82876789
41Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.82593877
42Steroid hormone biosynthesis_Homo sapiens_hsa001400.81488215
43Collecting duct acid secretion_Homo sapiens_hsa049660.80184513
44Asthma_Homo sapiens_hsa053100.79605376
45Steroid biosynthesis_Homo sapiens_hsa001000.78196288
46Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.77346975
47Maturity onset diabetes of the young_Homo sapiens_hsa049500.75293544
48Metabolic pathways_Homo sapiens_hsa011000.74678933
49Purine metabolism_Homo sapiens_hsa002300.74221841
50Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.74158474
51Basal cell carcinoma_Homo sapiens_hsa052170.73488694
52alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.73074264
53Nitrogen metabolism_Homo sapiens_hsa009100.71568705
54Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.70337766
55DNA replication_Homo sapiens_hsa030300.69409792
56RNA transport_Homo sapiens_hsa030130.66219670
57Linoleic acid metabolism_Homo sapiens_hsa005910.65858218
58Pyruvate metabolism_Homo sapiens_hsa006200.65660510
59One carbon pool by folate_Homo sapiens_hsa006700.63431983
60Fatty acid elongation_Homo sapiens_hsa000620.62564412
61Cysteine and methionine metabolism_Homo sapiens_hsa002700.61250268
62Rheumatoid arthritis_Homo sapiens_hsa053230.60799125
63Arachidonic acid metabolism_Homo sapiens_hsa005900.57837003
64Phototransduction_Homo sapiens_hsa047440.55847062
65Tryptophan metabolism_Homo sapiens_hsa003800.55801751
66Histidine metabolism_Homo sapiens_hsa003400.53961209
67Selenocompound metabolism_Homo sapiens_hsa004500.53222552
68Starch and sucrose metabolism_Homo sapiens_hsa005000.52633536
69Drug metabolism - other enzymes_Homo sapiens_hsa009830.49456004
70Hedgehog signaling pathway_Homo sapiens_hsa043400.45468353
71Tyrosine metabolism_Homo sapiens_hsa003500.44776514
72Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.42540136
73Ether lipid metabolism_Homo sapiens_hsa005650.40223553
74Fanconi anemia pathway_Homo sapiens_hsa034600.39990544
75Wnt signaling pathway_Homo sapiens_hsa043100.39254342
76Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.38202184
77Mineral absorption_Homo sapiens_hsa049780.37303208
78Sulfur metabolism_Homo sapiens_hsa009200.32631173
79Regulation of autophagy_Homo sapiens_hsa041400.31552096
80beta-Alanine metabolism_Homo sapiens_hsa004100.31520383
81Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.30784919
82Arginine and proline metabolism_Homo sapiens_hsa003300.28290466
83Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.28013624
84Protein digestion and absorption_Homo sapiens_hsa049740.27919141
85Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.26620241
86Renin-angiotensin system_Homo sapiens_hsa046140.26279983
87Allograft rejection_Homo sapiens_hsa053300.25592832
88Fatty acid metabolism_Homo sapiens_hsa012120.25516684
89Type I diabetes mellitus_Homo sapiens_hsa049400.24086579
90Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.23931392
91Notch signaling pathway_Homo sapiens_hsa043300.23809112
92Intestinal immune network for IgA production_Homo sapiens_hsa046720.23576978
93Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.22996027
94Autoimmune thyroid disease_Homo sapiens_hsa053200.22867126
95PPAR signaling pathway_Homo sapiens_hsa033200.21921435
96Graft-versus-host disease_Homo sapiens_hsa053320.21268935
97Non-homologous end-joining_Homo sapiens_hsa034500.19986219
98Caffeine metabolism_Homo sapiens_hsa002320.16559407
99Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.16151775
100Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.15647217

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