EEF1E1-BLOC1S5

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 EEF1E1 (eukaryotic translation elongation factor 1 epsilon 1) and MUTED (muted homolog) genes on chromosome 6. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD) and is unlikely to produce a protein product. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1proteasome assembly (GO:0043248)4.58818151
2DNA double-strand break processing (GO:0000729)4.53529255
3somatic diversification of immunoglobulins involved in immune response (GO:0002208)4.24924866
4isotype switching (GO:0045190)4.24924866
5somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)4.24924866
6protein complex biogenesis (GO:0070271)4.04878324
7respiratory chain complex IV assembly (GO:0008535)3.96420901
8mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.95200703
9mitochondrial respiratory chain complex I assembly (GO:0032981)3.95027721
10NADH dehydrogenase complex assembly (GO:0010257)3.95027721
11mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.95027721
12mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.94870883
13peptidyl-histidine modification (GO:0018202)3.77992633
14mismatch repair (GO:0006298)3.64932503
15protein neddylation (GO:0045116)3.58341296
16cullin deneddylation (GO:0010388)3.56621769
17resolution of meiotic recombination intermediates (GO:0000712)3.55552809
18cytochrome complex assembly (GO:0017004)3.53879575
19mitochondrial respiratory chain complex assembly (GO:0033108)3.53417533
20ATP synthesis coupled proton transport (GO:0015986)3.52434228
21energy coupled proton transport, down electrochemical gradient (GO:0015985)3.52434228
22regulation of chronic inflammatory response (GO:0002676)3.52422671
23protein deneddylation (GO:0000338)3.51356559
24L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.47882327
25telomere maintenance via semi-conservative replication (GO:0032201)3.46479791
26oxidative phosphorylation (GO:0006119)3.46277493
27respiratory electron transport chain (GO:0022904)3.36129538
28DNA catabolic process, exonucleolytic (GO:0000738)3.35790825
29DNA deamination (GO:0045006)3.35552876
30electron transport chain (GO:0022900)3.32840927
31negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.22239259
32regulation of cellular amino acid metabolic process (GO:0006521)3.22204310
33signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.21609829
34signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.21609829
35signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.21609829
36retinal cone cell development (GO:0046549)3.21211002
37DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.18986210
38RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.16868334
39tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.16868334
40mitotic recombination (GO:0006312)3.12708127
41chaperone-mediated protein transport (GO:0072321)3.12543700
42nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.12520338
43postreplication repair (GO:0006301)3.09663540
44intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.08223719
45signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.08223719
46transcription-coupled nucleotide-excision repair (GO:0006283)3.06558776
47positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.06057942
48somatic hypermutation of immunoglobulin genes (GO:0016446)3.06047509
49somatic diversification of immune receptors via somatic mutation (GO:0002566)3.06047509
50preassembly of GPI anchor in ER membrane (GO:0016254)3.04087174
51mannosylation (GO:0097502)3.03949375
52signal transduction involved in cell cycle checkpoint (GO:0072395)3.01737228
53signal transduction involved in DNA damage checkpoint (GO:0072422)3.01072437
54signal transduction involved in DNA integrity checkpoint (GO:0072401)3.01072437
55exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.99521722
56negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)2.97667360
57nucleotide-excision repair, DNA gap filling (GO:0006297)2.97496236
58regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)2.97155318
59somatic diversification of immunoglobulins (GO:0016445)2.97021174
60metallo-sulfur cluster assembly (GO:0031163)2.94191407
61iron-sulfur cluster assembly (GO:0016226)2.94191407
62recombinational repair (GO:0000725)2.94171068
63regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)2.92976069
64regulation of mitotic spindle checkpoint (GO:1903504)2.92976069
65somatic recombination of immunoglobulin gene segments (GO:0016447)2.91256782
66anterograde synaptic vesicle transport (GO:0048490)2.91094020
67replication fork processing (GO:0031297)2.91015261
68double-strand break repair via homologous recombination (GO:0000724)2.90876632
69establishment of protein localization to mitochondrial membrane (GO:0090151)2.88935435
70kinetochore organization (GO:0051383)2.88740296
71negative regulation of ligase activity (GO:0051352)2.87910153
72negative regulation of ubiquitin-protein transferase activity (GO:0051444)2.87910153
73meiotic chromosome segregation (GO:0045132)2.87464567
74platelet dense granule organization (GO:0060155)2.85891330
75intra-S DNA damage checkpoint (GO:0031573)2.85349187
76anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:02.84981633
77negative regulation of telomere maintenance (GO:0032205)2.84716169
78telomere maintenance via recombination (GO:0000722)2.83231730
79DNA excision (GO:0044349)2.83084493
80nucleotide-excision repair, DNA damage removal (GO:0000718)2.83084493
81deoxyribonucleoside monophosphate metabolic process (GO:0009162)2.82494369
82regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450912.80854825
83purine deoxyribonucleoside triphosphate metabolic process (GO:0009215)2.79017118
84L-methionine salvage (GO:0071267)2.78967185
85L-methionine biosynthetic process (GO:0071265)2.78967185
86amino acid salvage (GO:0043102)2.78967185
87protein K6-linked ubiquitination (GO:0085020)2.78857821
88DNA integration (GO:0015074)2.76612399
89positive regulation of histone H3-K4 methylation (GO:0051571)2.76496940
90GPI anchor biosynthetic process (GO:0006506)2.74142759
91rRNA modification (GO:0000154)2.73607731
92regulation of double-strand break repair via homologous recombination (GO:0010569)2.71920921
93GPI anchor metabolic process (GO:0006505)2.71828097
94positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.71437829
95endosome to melanosome transport (GO:0035646)2.70881713
96endosome to pigment granule transport (GO:0043485)2.70881713
97adenosine metabolic process (GO:0046085)2.70289739
98histone mRNA metabolic process (GO:0008334)2.70016618
99response to pheromone (GO:0019236)2.68564512
100DNA damage response, signal transduction by p53 class mediator (GO:0030330)2.67256448

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.96407701
2E2F7_22180533_ChIP-Seq_HELA_Human4.19317804
3E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.92896468
4EST1_17652178_ChIP-ChIP_JURKAT_Human3.71152764
5GABP_17652178_ChIP-ChIP_JURKAT_Human3.47050976
6ELF1_17652178_ChIP-ChIP_JURKAT_Human3.24393143
7HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human3.01160832
8JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.86162504
9ELK1_19687146_ChIP-ChIP_HELA_Human2.71969826
10VDR_23849224_ChIP-Seq_CD4+_Human2.71551081
11CREB1_15753290_ChIP-ChIP_HEK293T_Human2.64590935
12IGF1R_20145208_ChIP-Seq_DFB_Human2.62795001
13E2F4_17652178_ChIP-ChIP_JURKAT_Human2.58711161
14MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.57998358
15FLI1_27457419_Chip-Seq_LIVER_Mouse2.56018455
16ZNF274_21170338_ChIP-Seq_K562_Hela2.50856198
17ETS1_20019798_ChIP-Seq_JURKAT_Human2.46447933
18CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.34900219
19FOXP3_21729870_ChIP-Seq_TREG_Human2.31969807
20VDR_22108803_ChIP-Seq_LS180_Human2.13850706
21NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.06195338
22PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse2.03529357
23SRF_21415370_ChIP-Seq_HL-1_Mouse2.03495032
24PCGF2_27294783_Chip-Seq_ESCs_Mouse1.85567208
25HOXB4_20404135_ChIP-ChIP_EML_Mouse1.84487527
26MYC_18555785_ChIP-Seq_MESCs_Mouse1.77497310
27POU3F2_20337985_ChIP-ChIP_501MEL_Human1.76940656
28DCP1A_22483619_ChIP-Seq_HELA_Human1.73236147
29FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.71068102
30PADI4_21655091_ChIP-ChIP_MCF-7_Human1.69136873
31SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.67529115
32FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.63539129
33PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.58897781
34EWS_26573619_Chip-Seq_HEK293_Human1.57131519
35MYC_18940864_ChIP-ChIP_HL60_Human1.51260439
36P300_19829295_ChIP-Seq_ESCs_Human1.39515023
37SUZ12_27294783_Chip-Seq_NPCs_Mouse1.37073350
38GBX2_23144817_ChIP-Seq_PC3_Human1.36673355
39NFE2_27457419_Chip-Seq_LIVER_Mouse1.35508524
40MYC_19030024_ChIP-ChIP_MESCs_Mouse1.33394986
41CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.31222837
42E2F1_18555785_ChIP-Seq_MESCs_Mouse1.30149078
43ZFP57_27257070_Chip-Seq_ESCs_Mouse1.28661903
44LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.28031077
45GABP_19822575_ChIP-Seq_HepG2_Human1.26841962
46IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.25584684
47MYC_18358816_ChIP-ChIP_MESCs_Mouse1.23389714
48IRF1_19129219_ChIP-ChIP_H3396_Human1.21625800
49TP53_22573176_ChIP-Seq_HFKS_Human1.21406166
50IRF8_22096565_ChIP-ChIP_GC-B_Human1.19400443
51EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.18159425
52GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.17974612
53TAF15_26573619_Chip-Seq_HEK293_Human1.16672463
54GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.16556968
55EZH2_27294783_Chip-Seq_NPCs_Mouse1.15106667
56SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.15080512
57PCGF2_27294783_Chip-Seq_NPCs_Mouse1.14935330
58MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.14636615
59SOX2_19829295_ChIP-Seq_ESCs_Human1.13821078
60NANOG_19829295_ChIP-Seq_ESCs_Human1.13821078
61FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.10969360
62GATA3_26560356_Chip-Seq_TH2_Human1.09729454
63HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.09705952
64FUS_26573619_Chip-Seq_HEK293_Human1.06511283
65EGR1_23403033_ChIP-Seq_LIVER_Mouse1.06469905
66TTF2_22483619_ChIP-Seq_HELA_Human1.06322805
67NELFA_20434984_ChIP-Seq_ESCs_Mouse1.05209861
68FOXA1_27270436_Chip-Seq_PROSTATE_Human1.02698273
69FOXA1_25329375_ChIP-Seq_VCAP_Human1.02698273
70GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.02263511
71FOXH1_21741376_ChIP-Seq_EPCs_Human0.99673546
72CTBP2_25329375_ChIP-Seq_LNCAP_Human0.98477504
73CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.98270146
74POU5F1_16153702_ChIP-ChIP_HESCs_Human0.98112140
75THAP11_20581084_ChIP-Seq_MESCs_Mouse0.97865072
76E2F1_21310950_ChIP-Seq_MCF-7_Human0.97524929
77FOXA1_21572438_ChIP-Seq_LNCaP_Human0.97344388
78P53_22387025_ChIP-Seq_ESCs_Mouse0.95986486
79CTBP1_25329375_ChIP-Seq_LNCAP_Human0.94592601
80SCL_19346495_ChIP-Seq_HPC-7_Human0.94362296
81YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.93898062
82POU5F1_18358816_ChIP-ChIP_MESCs_Mouse0.93412815
83ELK1_22589737_ChIP-Seq_MCF10A_Human0.92524611
84CBP_20019798_ChIP-Seq_JUKART_Human0.92248479
85IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.92248479
86MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse0.91352394
87HCFC1_20581084_ChIP-Seq_MESCs_Mouse0.91080177
88ER_23166858_ChIP-Seq_MCF-7_Human0.90033416
89UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.89683743
90NOTCH1_21737748_ChIP-Seq_TLL_Human0.89440686
91AR_20517297_ChIP-Seq_VCAP_Human0.89359817
92CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.89281798
93FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.88156258
94EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse0.87603195
95SUZ12_18555785_Chip-Seq_ESCs_Mouse0.87478690
96EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.85646999
97CRX_20693478_ChIP-Seq_RETINA_Mouse0.85454444
98SALL4_22934838_ChIP-ChIP_CD34+_Human0.84839706
99HTT_18923047_ChIP-ChIP_STHdh_Human0.84710988
100MYBL2_22936984_ChIP-ChIP_MESCs_Mouse0.84659313

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008877_abnormal_DNA_methylation3.85890591
2MP0009697_abnormal_copulation3.12434760
3MP0008058_abnormal_DNA_repair3.01097806
4MP0003806_abnormal_nucleotide_metabolis2.74676900
5MP0000372_irregular_coat_pigmentation2.66886647
6MP0000465_gastrointestinal_hemorrhage2.49383666
7MP0005645_abnormal_hypothalamus_physiol2.48653264
8MP0006292_abnormal_olfactory_placode2.48544888
9MP0003718_maternal_effect2.48027774
10MP0006036_abnormal_mitochondrial_physio2.47278504
11MP0006072_abnormal_retinal_apoptosis2.42799684
12MP0002102_abnormal_ear_morphology2.37092263
13MP0008872_abnormal_physiological_respon2.32131980
14MP0005367_renal/urinary_system_phenotyp2.18522896
15MP0000516_abnormal_urinary_system2.18522896
16MP0010094_abnormal_chromosome_stability2.09623219
17MP0005671_abnormal_response_to2.03806428
18MP0003786_premature_aging2.01452559
19MP0003186_abnormal_redox_activity1.97059992
20MP0003195_calcinosis1.94138890
21MP0005646_abnormal_pituitary_gland1.92281769
22MP0008875_abnormal_xenobiotic_pharmacok1.91530308
23MP0005551_abnormal_eye_electrophysiolog1.90208126
24MP0004043_abnormal_pH_regulation1.83020573
25MP0001835_abnormal_antigen_presentation1.81331695
26MP0001727_abnormal_embryo_implantation1.80714297
27MP0004147_increased_porphyrin_level1.76357578
28MP0005075_abnormal_melanosome_morpholog1.74965968
29MP0008007_abnormal_cellular_replicative1.74081534
30MP0001764_abnormal_homeostasis1.68421655
31MP0002837_dystrophic_cardiac_calcinosis1.67131138
32MP0004145_abnormal_muscle_electrophysio1.66887464
33MP0003567_abnormal_fetal_cardiomyocyte1.65307315
34MP0006035_abnormal_mitochondrial_morpho1.56582533
35MP0005084_abnormal_gallbladder_morpholo1.55999739
36MP0001529_abnormal_vocalization1.54286915
37MP0008789_abnormal_olfactory_epithelium1.53413605
38MP0003693_abnormal_embryo_hatching1.53342213
39MP0008260_abnormal_autophagy1.52133936
40MP0005464_abnormal_platelet_physiology1.48322584
41MP0003111_abnormal_nucleus_morphology1.47426639
42MP0004957_abnormal_blastocyst_morpholog1.45273842
43MP0008995_early_reproductive_senescence1.41133890
44MP0001905_abnormal_dopamine_level1.40918480
45MP0005253_abnormal_eye_physiology1.31011852
46MP0010307_abnormal_tumor_latency1.30601349
47MP0001986_abnormal_taste_sensitivity1.25724945
48MP0008873_increased_physiological_sensi1.22771093
49MP0001984_abnormal_olfaction1.20368579
50MP0002148_abnormal_hypersensitivity_rea1.19466853
51MP0000639_abnormal_adrenal_gland1.19403617
52MP0003787_abnormal_imprinting1.18398021
53MP0001919_abnormal_reproductive_system1.17533517
54MP0002019_abnormal_tumor_incidence1.15727109
55MP0005085_abnormal_gallbladder_physiolo1.15581420
56MP0003077_abnormal_cell_cycle1.12962393
57MP0001968_abnormal_touch/_nociception1.11031539
58MP0009764_decreased_sensitivity_to1.06439643
59MP0001486_abnormal_startle_reflex1.05702541
60MP0005636_abnormal_mineral_homeostasis1.05555887
61MP0001929_abnormal_gametogenesis1.00731391
62MP0004142_abnormal_muscle_tone1.00289883
63MP0002736_abnormal_nociception_after0.98456161
64MP0005451_abnormal_body_composition0.98001631
65MP0000631_abnormal_neuroendocrine_gland0.97633791
66MP0005332_abnormal_amino_acid0.96155803
67MP0002095_abnormal_skin_pigmentation0.94935225
68MP0003137_abnormal_impulse_conducting0.94735621
69MP0001191_abnormal_skin_condition0.90027778
70MP0001119_abnormal_female_reproductive0.89983767
71MP0002909_abnormal_adrenal_gland0.89746766
72MP0003866_abnormal_defecation0.88416886
73MP0000685_abnormal_immune_system0.88174104
74MP0002210_abnormal_sex_determination0.87762495
75MP0000653_abnormal_sex_gland0.85425798
76MP0005499_abnormal_olfactory_system0.85191594
77MP0005394_taste/olfaction_phenotype0.85191594
78MP0005379_endocrine/exocrine_gland_phen0.84418647
79MP0005410_abnormal_fertilization0.84301221
80MP0001545_abnormal_hematopoietic_system0.82253692
81MP0005397_hematopoietic_system_phenotyp0.82253692
82MP0009765_abnormal_xenobiotic_induced0.81049007
83MP0003011_delayed_dark_adaptation0.80557369
84MP0001145_abnormal_male_reproductive0.80254797
85MP0002653_abnormal_ependyma_morphology0.79342933
86MP0004215_abnormal_myocardial_fiber0.76907120
87MP0002163_abnormal_gland_morphology0.76884317
88MP0002398_abnormal_bone_marrow0.73583972
89MP0000358_abnormal_cell_content/0.71929307
90MP0000689_abnormal_spleen_morphology0.71808709
91MP0005000_abnormal_immune_tolerance0.69732048
92MP0005408_hypopigmentation0.69556168
93MP0002006_tumorigenesis0.68309673
94MP0006276_abnormal_autonomic_nervous0.67549806
95MP0009046_muscle_twitch0.66261686
96MP0002723_abnormal_immune_serum0.66151510
97MP0005386_behavior/neurological_phenoty0.65660873
98MP0004924_abnormal_behavior0.65660873
99MP0003698_abnormal_male_reproductive0.65609928
100MP0001756_abnormal_urination0.65260669

Predicted human phenotypes

RankGene SetZ-score
1Hepatocellular necrosis (HP:0001404)5.48203556
2Hepatic necrosis (HP:0002605)4.96895765
3Acute necrotizing encephalopathy (HP:0006965)4.67666772
4Mitochondrial inheritance (HP:0001427)4.45862457
5Acute encephalopathy (HP:0006846)4.24938247
6Increased CSF lactate (HP:0002490)4.19451836
7Abnormal mitochondria in muscle tissue (HP:0008316)4.12978096
8Progressive macrocephaly (HP:0004481)3.93147782
9Colon cancer (HP:0003003)3.57798144
10Cerebral edema (HP:0002181)3.36986152
11Increased hepatocellular lipid droplets (HP:0006565)3.18816424
12Renal cortical cysts (HP:0000803)3.11348271
13Lipid accumulation in hepatocytes (HP:0006561)2.89995230
14Abnormality of the renal cortex (HP:0011035)2.87411216
15Renal Fanconi syndrome (HP:0001994)2.87401418
16Increased intramyocellular lipid droplets (HP:0012240)2.86136334
17CNS demyelination (HP:0007305)2.81228315
18Meckel diverticulum (HP:0002245)2.79757256
19Pancreatic cysts (HP:0001737)2.77735618
203-Methylglutaconic aciduria (HP:0003535)2.75069343
21Abnormality of the ileum (HP:0001549)2.74590369
22Increased serum lactate (HP:0002151)2.74158490
23Lactic acidosis (HP:0003128)2.62781704
24Short tibia (HP:0005736)2.58630274
25Stomatitis (HP:0010280)2.57747126
26Decreased activity of mitochondrial respiratory chain (HP:0008972)2.57514572
27Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.57514572
28Abnormality of midbrain morphology (HP:0002418)2.50184868
29Molar tooth sign on MRI (HP:0002419)2.50184868
30Spinal muscular atrophy (HP:0007269)2.48118722
31Hypothermia (HP:0002045)2.46047293
32Abnormality of the anterior horn cell (HP:0006802)2.45986207
33Degeneration of anterior horn cells (HP:0002398)2.45986207
34Stomach cancer (HP:0012126)2.45646384
35Aplasia/Hypoplasia of the uvula (HP:0010293)2.43509827
36Exertional dyspnea (HP:0002875)2.42623004
37Generalized aminoaciduria (HP:0002909)2.41394815
38Respiratory failure (HP:0002878)2.40674473
39Aplasia/Hypoplasia of the tibia (HP:0005772)2.36250455
40Medial flaring of the eyebrow (HP:0010747)2.33813940
41Increased muscle lipid content (HP:0009058)2.33775274
42Leukodystrophy (HP:0002415)2.33088671
43Medulloblastoma (HP:0002885)2.30054927
44Methylmalonic acidemia (HP:0002912)2.28288019
45Optic disc pallor (HP:0000543)2.27857390
46Emotional lability (HP:0000712)2.26560791
47Lethargy (HP:0001254)2.26461587
48Fibular aplasia (HP:0002990)2.21489867
49Aplasia/hypoplasia of the uterus (HP:0008684)2.18091377
50Petechiae (HP:0000967)2.17972508
51Abnormality of the phalanges of the 2nd finger (HP:0009541)2.17594817
52Congenital stationary night blindness (HP:0007642)2.14142122
53Progressive microcephaly (HP:0000253)2.12456011
54IgG deficiency (HP:0004315)2.11080120
55Exercise intolerance (HP:0003546)2.10951596
56Attenuation of retinal blood vessels (HP:0007843)2.10678469
57Glioma (HP:0009733)2.06854116
58Abnormality of the preputium (HP:0100587)2.06674894
59Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.05195183
60Abnormality of the labia minora (HP:0012880)2.02094705
61Abnormality of the prostate (HP:0008775)2.01784522
62Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.00687641
63Abolished electroretinogram (ERG) (HP:0000550)2.00344662
64Congenital, generalized hypertrichosis (HP:0004540)2.00290912
65Microretrognathia (HP:0000308)2.00252918
66Neoplasm of the adrenal cortex (HP:0100641)1.99704219
67Abnormality of chromosome stability (HP:0003220)1.98304336
68Abnormality of DNA repair (HP:0003254)1.98110166
69Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)1.97979813
70Abnormality of urine glucose concentration (HP:0011016)1.95571529
71Glycosuria (HP:0003076)1.95571529
72Neoplasm of the oral cavity (HP:0100649)1.92446617
73Adactyly (HP:0009776)1.92324629
74Abnormality of the middle phalanx of the 5th finger (HP:0004219)1.91671152
75Myelodysplasia (HP:0002863)1.89451379
76Intestinal atresia (HP:0011100)1.87285622
77Clubbing of toes (HP:0100760)1.85904690
78Focal motor seizures (HP:0011153)1.84262536
79Ependymoma (HP:0002888)1.80791898
80Neutropenia (HP:0001875)1.80056220
81Hypoproteinemia (HP:0003075)1.78785625
82Absent thumb (HP:0009777)1.77033692
83Methylmalonic aciduria (HP:0012120)1.76026557
84Gliosis (HP:0002171)1.75219918
85Respiratory difficulties (HP:0002880)1.75067319
86Congenital primary aphakia (HP:0007707)1.74797530
87Duodenal stenosis (HP:0100867)1.74080121
88Small intestinal stenosis (HP:0012848)1.74080121
89Abnormality of the duodenum (HP:0002246)1.73793786
90Type II lissencephaly (HP:0007260)1.73352832
91Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)1.72846895
92Abnormality of the phalanges of the 5th finger (HP:0004213)1.70579270
93Nephrogenic diabetes insipidus (HP:0009806)1.69836977
94Nephronophthisis (HP:0000090)1.68304043
95Abnormality of lateral ventricle (HP:0030047)1.67790227
96Cutaneous melanoma (HP:0012056)1.67758626
97Metabolic acidosis (HP:0001942)1.66737548
98Abnormality of renal resorption (HP:0011038)1.66043647
99Atrophy/Degeneration involving motor neurons (HP:0007373)1.65056605
100Neoplasm of the adrenal gland (HP:0100631)1.64843061

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ZAK3.86677851
2VRK23.04555898
3MAP4K22.93380449
4SRPK12.86863576
5CCNB12.73768839
6MST42.72039499
7TRIM282.69078072
8STK162.59193702
9VRK12.27808173
10NUAK12.25202690
11EIF2AK12.04369768
12PLK31.90301388
13MAP3K61.66653153
14WNK31.66155853
15FLT31.59381295
16CSNK1G31.58400837
17FRK1.55541468
18BMPR1B1.54455124
19MKNK11.51212625
20BCKDK1.49475153
21DAPK11.46752412
22TLK11.45434711
23BMPR21.45395157
24NME11.43305134
25MAP2K71.39585725
26CSNK1G11.39028036
27MAPKAPK31.35647121
28MAPK131.27814262
29MKNK21.27747721
30TXK1.26550514
31CSNK1G21.25958665
32CSNK1A1L1.25647248
33ADRBK21.25062673
34MAP3K41.24991139
35CDC71.24938878
36BUB11.24864568
37EIF2AK21.24745883
38NEK11.24125495
39GRK11.23356971
40TNK21.17329216
41ERBB31.12166196
42EIF2AK31.11865068
43CDK81.10146295
44FES1.10117260
45BCR1.09413307
46PLK21.05522294
47MAP3K121.03957313
48TTK0.99179393
49PINK10.94054781
50IKBKB0.93289951
51TAF10.93255593
52DYRK20.86495656
53PLK10.84978210
54ATR0.84611898
55WEE10.80743270
56STK390.80739782
57TEC0.79499866
58WNK40.78612326
59IRAK10.74688374
60CHEK20.73224979
61TIE10.72304826
62PLK40.71810712
63MYLK0.71661101
64DAPK20.71630137
65TSSK60.65178133
66IKBKE0.64425955
67INSRR0.61337464
68STK30.58818941
69OXSR10.57079153
70MAPKAPK50.56899961
71KDR0.55877602
72LIMK10.55361812
73MINK10.53247127
74AURKB0.51906585
75TAOK30.51255854
76IRAK20.50290989
77PKN10.49920010
78SIK30.49795652
79PRKCE0.48682690
80CSNK1A10.46930830
81STK38L0.46359501
82TESK10.46287606
83GRK60.44930658
84FGFR10.42616110
85PIM10.41965834
86ATM0.41519933
87PRKG10.41225553
88ILK0.40756293
89CDK30.40496154
90CSNK2A10.40130224
91ACVR1B0.39410613
92KIT0.39173783
93IGF1R0.39163459
94CSNK2A20.38573086
95TGFBR10.38161046
96RPS6KA50.37775948
97LYN0.37428086
98LCK0.36449034
99DAPK30.36192075
100MAP2K40.34941175

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030504.23372132
2Mismatch repair_Homo sapiens_hsa034303.24556343
3Oxidative phosphorylation_Homo sapiens_hsa001903.19700928
4Protein export_Homo sapiens_hsa030602.90815090
5DNA replication_Homo sapiens_hsa030302.85241801
6Parkinsons disease_Homo sapiens_hsa050122.60510932
7Homologous recombination_Homo sapiens_hsa034402.59230209
8Nucleotide excision repair_Homo sapiens_hsa034202.50273825
9Fanconi anemia pathway_Homo sapiens_hsa034602.47286054
10Asthma_Homo sapiens_hsa053102.29154484
11Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.27338723
12Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.15196091
13RNA polymerase_Homo sapiens_hsa030202.04251599
14Propanoate metabolism_Homo sapiens_hsa006401.98585551
15Non-homologous end-joining_Homo sapiens_hsa034501.94760374
16Base excision repair_Homo sapiens_hsa034101.93824101
17Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.74099075
18Basal transcription factors_Homo sapiens_hsa030221.70141609
19Huntingtons disease_Homo sapiens_hsa050161.63850579
20Alzheimers disease_Homo sapiens_hsa050101.60449466
21Allograft rejection_Homo sapiens_hsa053301.58501678
22Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.57673811
23Regulation of autophagy_Homo sapiens_hsa041401.57490035
24Ribosome_Homo sapiens_hsa030101.57294828
25RNA transport_Homo sapiens_hsa030131.51683486
26Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.46973400
27Autoimmune thyroid disease_Homo sapiens_hsa053201.45893084
28Type I diabetes mellitus_Homo sapiens_hsa049401.39866440
29RNA degradation_Homo sapiens_hsa030181.28665526
30Pyrimidine metabolism_Homo sapiens_hsa002401.28074728
31Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.26004442
32Fatty acid elongation_Homo sapiens_hsa000621.23067483
33Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.22662104
34Intestinal immune network for IgA production_Homo sapiens_hsa046721.22007362
35Spliceosome_Homo sapiens_hsa030401.19544704
36Graft-versus-host disease_Homo sapiens_hsa053321.17899440
37Peroxisome_Homo sapiens_hsa041461.16639587
38Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.15818036
39Purine metabolism_Homo sapiens_hsa002301.08333095
40Glutathione metabolism_Homo sapiens_hsa004801.08016643
41Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.07700891
42Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.03219605
43Cysteine and methionine metabolism_Homo sapiens_hsa002701.02387279
44Caffeine metabolism_Homo sapiens_hsa002321.02094916
45Primary immunodeficiency_Homo sapiens_hsa053401.01547460
46Butanoate metabolism_Homo sapiens_hsa006500.98270511
47Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.97722375
48Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.97246589
49Selenocompound metabolism_Homo sapiens_hsa004500.94757531
50Linoleic acid metabolism_Homo sapiens_hsa005910.92975352
51Antigen processing and presentation_Homo sapiens_hsa046120.92879892
52Pyruvate metabolism_Homo sapiens_hsa006200.91287767
53Vitamin B6 metabolism_Homo sapiens_hsa007500.85265240
54Cardiac muscle contraction_Homo sapiens_hsa042600.82340915
55Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.79348966
56Phototransduction_Homo sapiens_hsa047440.77596180
57Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.76825286
58One carbon pool by folate_Homo sapiens_hsa006700.76287779
59NOD-like receptor signaling pathway_Homo sapiens_hsa046210.75934405
60alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.75770517
61Tryptophan metabolism_Homo sapiens_hsa003800.74286657
62Rheumatoid arthritis_Homo sapiens_hsa053230.73794520
63Primary bile acid biosynthesis_Homo sapiens_hsa001200.71324821
64Hematopoietic cell lineage_Homo sapiens_hsa046400.70952340
65Olfactory transduction_Homo sapiens_hsa047400.70173547
66beta-Alanine metabolism_Homo sapiens_hsa004100.67323471
67Collecting duct acid secretion_Homo sapiens_hsa049660.63392894
68Arachidonic acid metabolism_Homo sapiens_hsa005900.63198152
69Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.61171385
70Steroid hormone biosynthesis_Homo sapiens_hsa001400.60592288
71Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.59558780
72Sulfur metabolism_Homo sapiens_hsa009200.58279017
73Cell cycle_Homo sapiens_hsa041100.58234249
74Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.56939630
75Metabolic pathways_Homo sapiens_hsa011000.54742715
76Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.54715542
77Chemical carcinogenesis_Homo sapiens_hsa052040.54294146
78Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.53045045
79Systemic lupus erythematosus_Homo sapiens_hsa053220.49180738
80SNARE interactions in vesicular transport_Homo sapiens_hsa041300.48386449
812-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.46381845
82Legionellosis_Homo sapiens_hsa051340.46266173
83Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.45289617
84Viral myocarditis_Homo sapiens_hsa054160.43834824
85Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.42795164
86Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.42476860
87Fat digestion and absorption_Homo sapiens_hsa049750.42069037
88Fatty acid metabolism_Homo sapiens_hsa012120.41025989
89Pentose and glucuronate interconversions_Homo sapiens_hsa000400.40638885
90Nitrogen metabolism_Homo sapiens_hsa009100.40422325
91Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.40071170
92Oocyte meiosis_Homo sapiens_hsa041140.37441752
93Fatty acid degradation_Homo sapiens_hsa000710.36964302
94Maturity onset diabetes of the young_Homo sapiens_hsa049500.36803317
95Herpes simplex infection_Homo sapiens_hsa051680.31445368
96p53 signaling pathway_Homo sapiens_hsa041150.30341042
97Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.29546526
98Epstein-Barr virus infection_Homo sapiens_hsa051690.29348097
99Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.26974494
100Ether lipid metabolism_Homo sapiens_hsa005650.25050611

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