NOB1

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: In yeast, over 200 protein and RNA cofactors are required for ribosome assembly, and these are generally conserved in eukaryotes. These factors orchestrate modification and cleavage of the initial 35S precursor rRNA transcript into the mature 18S, 5.8S, and 25S rRNAs, folding of the rRNA, and binding of ribosomal proteins and 5S RNA. Nob1 is involved in pre-rRNA processing. In a late cytoplasmic processing step, Nob1 cleaves a 20S rRNA intermediate at cleavage site D to produce the mature 18S rRNA (Lamanna and Karbstein, 2009 [PubMed 19706509]). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1maturation of SSU-rRNA (GO:0030490)5.17704734
2ribosomal small subunit assembly (GO:0000028)4.94787373
3nucleobase biosynthetic process (GO:0046112)4.81138958
4formation of translation preinitiation complex (GO:0001731)4.70615461
5purine nucleobase biosynthetic process (GO:0009113)4.54154292
6ribosomal small subunit biogenesis (GO:0042274)4.51025900
7DNA replication initiation (GO:0006270)4.47479632
8DNA strand elongation involved in DNA replication (GO:0006271)4.45466488
9ribosome biogenesis (GO:0042254)4.44622477
10ribonucleoprotein complex biogenesis (GO:0022613)4.36088548
11viral transcription (GO:0019083)4.34284495
12translational termination (GO:0006415)4.30953194
13DNA deamination (GO:0045006)4.27043306
14DNA strand elongation (GO:0022616)4.26490636
15ribosomal large subunit biogenesis (GO:0042273)4.21089859
16mitotic metaphase plate congression (GO:0007080)4.17890277
17DNA replication checkpoint (GO:0000076)4.16635130
18IMP biosynthetic process (GO:0006188)4.11772493
19DNA unwinding involved in DNA replication (GO:0006268)4.06643932
20telomere maintenance via semi-conservative replication (GO:0032201)4.05552799
21protein localization to kinetochore (GO:0034501)4.03921220
22ribosome assembly (GO:0042255)4.01528749
23translational initiation (GO:0006413)3.95990836
24translational elongation (GO:0006414)3.95398724
25regulation of translational fidelity (GO:0006450)3.87777849
26mitotic nuclear envelope disassembly (GO:0007077)3.86445530
27rRNA processing (GO:0006364)3.85541291
28spliceosomal snRNP assembly (GO:0000387)3.81533620
29proteasome assembly (GO:0043248)3.73280783
30rRNA metabolic process (GO:0016072)3.73062589
31nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.69575590
32pseudouridine synthesis (GO:0001522)3.68624803
33SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.62134378
34mitotic chromosome condensation (GO:0007076)3.60893858
35IMP metabolic process (GO:0046040)3.58005020
36telomere maintenance via recombination (GO:0000722)3.55933855
37membrane disassembly (GO:0030397)3.54002260
38nuclear envelope disassembly (GO:0051081)3.54002260
39termination of RNA polymerase III transcription (GO:0006386)3.53157715
40transcription elongation from RNA polymerase III promoter (GO:0006385)3.53157715
41cotranslational protein targeting to membrane (GO:0006613)3.52845211
42protein targeting to ER (GO:0045047)3.51367974
43rRNA modification (GO:0000154)3.48381985
44regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)3.48205036
45cellular protein complex disassembly (GO:0043624)3.47448069
46metaphase plate congression (GO:0051310)3.47196078
47folic acid-containing compound biosynthetic process (GO:0009396)3.44162296
48telomere maintenance via telomere lengthening (GO:0010833)3.41006600
49DNA replication-dependent nucleosome assembly (GO:0006335)3.40197010
50DNA replication-dependent nucleosome organization (GO:0034723)3.40197010
51protein targeting to membrane (GO:0006612)3.40067356
52protein localization to chromosome, centromeric region (GO:0071459)3.38165165
53nuclear pore organization (GO:0006999)3.38046818
54CENP-A containing nucleosome assembly (GO:0034080)3.34994252
55viral life cycle (GO:0019058)3.34921991
56establishment of protein localization to endoplasmic reticulum (GO:0072599)3.33824316
57transcription from mitochondrial promoter (GO:0006390)3.33794867
58negative regulation of mRNA splicing, via spliceosome (GO:0048025)3.33400163
59mitotic recombination (GO:0006312)3.33204508
60cellular component biogenesis (GO:0044085)3.31767913
61protein localization to endoplasmic reticulum (GO:0070972)3.31105789
62termination of RNA polymerase I transcription (GO:0006363)3.29684021
63chromatin remodeling at centromere (GO:0031055)3.28663623
64negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.28044405
65anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.26429592
66regulation of mitochondrial translation (GO:0070129)3.26391552
67regulation of spindle organization (GO:0090224)3.22387382
68RNA catabolic process (GO:0006401)3.21533761
69proline biosynthetic process (GO:0006561)3.21504368
70translation (GO:0006412)3.21135296
71spliceosomal complex assembly (GO:0000245)3.20807413
72regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.20730285
73transcription elongation from RNA polymerase I promoter (GO:0006362)3.19315286
74nucleotide-excision repair, DNA gap filling (GO:0006297)3.18734513
75establishment of integrated proviral latency (GO:0075713)3.18105601
76maturation of 5.8S rRNA (GO:0000460)3.17425543
77DNA replication-independent nucleosome assembly (GO:0006336)3.16497954
78DNA replication-independent nucleosome organization (GO:0034724)3.16497954
79positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.16125022
80protein complex disassembly (GO:0043241)3.15743363
81tRNA aminoacylation for protein translation (GO:0006418)3.15659930
82regulation of nuclear cell cycle DNA replication (GO:0033262)3.15467920
83nucleobase-containing small molecule interconversion (GO:0015949)3.14477470
84mitotic sister chromatid segregation (GO:0000070)3.13654734
85transcription-coupled nucleotide-excision repair (GO:0006283)3.12702861
86establishment of viral latency (GO:0019043)3.12376502
87mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.11065327
88transcription from RNA polymerase I promoter (GO:0006360)3.09089232
89amino acid activation (GO:0043038)3.07971465
90tRNA aminoacylation (GO:0043039)3.07971465
917-methylguanosine mRNA capping (GO:0006370)3.07298009
92nuclear-transcribed mRNA catabolic process (GO:0000956)3.07185508
93negative regulation of RNA splicing (GO:0033119)3.07143000
94folic acid metabolic process (GO:0046655)3.05590519
95rRNA methylation (GO:0031167)3.04685282
96sister chromatid segregation (GO:0000819)3.04488811
97RNA splicing, via transesterification reactions (GO:0000375)3.03613210
98ncRNA processing (GO:0034470)3.03074337
99establishment of chromosome localization (GO:0051303)3.02744937
100viral mRNA export from host cell nucleus (GO:0046784)3.02681359
101RNA capping (GO:0036260)3.02393759
1027-methylguanosine RNA capping (GO:0009452)3.02393759
103somatic diversification of immune receptors via somatic mutation (GO:0002566)3.02164545
104somatic hypermutation of immunoglobulin genes (GO:0016446)3.02164545
105rRNA transcription (GO:0009303)3.01900363
106cell cycle G1/S phase transition (GO:0044843)3.01714105
107G1/S transition of mitotic cell cycle (GO:0000082)3.01714105
108RNA splicing, via transesterification reactions with bulged adenosine as nucleophile (GO:0000377)3.01402767
109mRNA splicing, via spliceosome (GO:0000398)3.01402767
110negative regulation of ligase activity (GO:0051352)3.01291814
111negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.01291814
112macromolecular complex disassembly (GO:0032984)3.01160879
113DNA-templated transcription, termination (GO:0006353)2.98141185
114nuclear pore complex assembly (GO:0051292)2.97853073
115heterochromatin organization (GO:0070828)2.96328384
116oxidative phosphorylation (GO:0006119)2.96217893
117negative regulation of mRNA processing (GO:0050686)2.95127692
118attachment of spindle microtubules to kinetochore (GO:0008608)2.93987110
119peptidyl-arginine omega-N-methylation (GO:0035247)2.93878462
120ncRNA metabolic process (GO:0034660)2.93580760
121DNA topological change (GO:0006265)2.91660589
122L-serine metabolic process (GO:0006563)2.91064385
123mRNA catabolic process (GO:0006402)2.90258026
124protein targeting to mitochondrion (GO:0006626)2.85866416
125chaperone-mediated protein transport (GO:0072321)2.81874431
126negative regulation of mRNA metabolic process (GO:1903312)2.81721073
127establishment of protein localization to mitochondrial membrane (GO:0090151)2.81669206
128mitochondrial RNA metabolic process (GO:0000959)2.80922776
129protein complex localization (GO:0031503)2.77977311
130ribonucleoprotein complex assembly (GO:0022618)2.74728920

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human7.42356842
2* MYC_18555785_ChIP-Seq_MESCs_Mouse4.72530413
3EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.83325782
4* MYC_19079543_ChIP-ChIP_MESCs_Mouse3.37364346
5KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.35827968
6FOXM1_23109430_ChIP-Seq_U2OS_Human3.32474049
7EST1_17652178_ChIP-ChIP_JURKAT_Human3.28357438
8E2F4_17652178_ChIP-ChIP_JURKAT_Human3.28198160
9* JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.14059925
10ETS1_20019798_ChIP-Seq_JURKAT_Human3.13815540
11* MYC_18358816_ChIP-ChIP_MESCs_Mouse3.07486968
12GABP_17652178_ChIP-ChIP_JURKAT_Human3.05398030
13* MYC_19030024_ChIP-ChIP_MESCs_Mouse3.05189508
14FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.85257318
15CREB1_15753290_ChIP-ChIP_HEK293T_Human2.77617799
16HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.66996396
17NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.56248623
18XRN2_22483619_ChIP-Seq_HELA_Human2.52155504
19* NELFA_20434984_ChIP-Seq_ESCs_Mouse2.36957464
20CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.36559210
21VDR_23849224_ChIP-Seq_CD4+_Human2.35269144
22* E2F1_18555785_ChIP-Seq_MESCs_Mouse2.11181132
23FOXP3_21729870_ChIP-Seq_TREG_Human2.10576627
24MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.07249115
25THAP11_20581084_ChIP-Seq_MESCs_Mouse2.04170514
26DCP1A_22483619_ChIP-Seq_HELA_Human2.02499860
27* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.02157738
28* GABP_19822575_ChIP-Seq_HepG2_Human1.99777028
29MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.98155876
30E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.97441717
31TTF2_22483619_ChIP-Seq_HELA_Human1.96731356
32MYCN_18555785_ChIP-Seq_MESCs_Mouse1.92661385
33ELF1_17652178_ChIP-ChIP_JURKAT_Human1.92478144
34POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.89759984
35NANOG_18555785_ChIP-Seq_MESCs_Mouse1.88348197
36YY1_21170310_ChIP-Seq_MESCs_Mouse1.86518087
37ZNF263_19887448_ChIP-Seq_K562_Human1.85207687
38SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.78071386
39E2F1_21310950_ChIP-Seq_MCF-7_Human1.76061978
40AR_21909140_ChIP-Seq_LNCAP_Human1.73799429
41CIITA_25753668_ChIP-Seq_RAJI_Human1.73111339
42* YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.72272883
43PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.69787261
44SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.65647467
45ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.62912223
46FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.61858063
47* KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.61229366
48TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.60873721
49ELK1_19687146_ChIP-ChIP_HELA_Human1.59326629
50NOTCH1_21737748_ChIP-Seq_TLL_Human1.59176210
51MYC_22102868_ChIP-Seq_BL_Human1.58449969
52EGR1_19374776_ChIP-ChIP_THP-1_Human1.56941603
53ZFX_18555785_ChIP-Seq_MESCs_Mouse1.55970777
54CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.49431364
55SRF_21415370_ChIP-Seq_HL-1_Mouse1.48678839
56* KDM5A_27292631_Chip-Seq_BREAST_Human1.47714217
57POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.45522677
58HOXB4_20404135_ChIP-ChIP_EML_Mouse1.41969331
59MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.38438326
60STAT3_1855785_ChIP-Seq_MESCs_Mouse1.35323686
61CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.34868080
62SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.34760944
63POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.34582339
64PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.32462375
65SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.31840952
66TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.28768608
67FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.26846291
68KLF4_18555785_ChIP-Seq_MESCs_Mouse1.23051084
69CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.19554398
70PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.18870524
71ERG_20887958_ChIP-Seq_HPC-7_Mouse1.17517198
72CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.15792259
73KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.14369088
74HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.13228916
75TFEB_21752829_ChIP-Seq_HELA_Human1.12503844
76DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.11605265
77ESR1_15608294_ChIP-ChIP_MCF-7_Human1.10748210
78SOX2_18555785_ChIP-Seq_MESCs_Mouse1.09385604
79TP63_19390658_ChIP-ChIP_HaCaT_Human1.07668838
80* E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.07360974
81CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.06827736
82PADI4_21655091_ChIP-ChIP_MCF-7_Human1.05371800
83BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.05258691
84KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.05115176
85CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.04816107
86ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.03621616
87ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.02908602
88CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.01772957
89ELK1_22589737_ChIP-Seq_MCF10A_Human1.01395124
90MYC_18940864_ChIP-ChIP_HL60_Human1.00643598
91NACC1_18358816_ChIP-ChIP_MESCs_Mouse0.97294649
92ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.96143800
93HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.95489885
94SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.93814445
95SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.92922591
96CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.91839863
97CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.91632279
98GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.91353364
99TCF3_18692474_ChIP-Seq_MEFs_Mouse0.91100981
100* SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.90896569
101TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.89972944
102PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.88473252
103NANOG_21062744_ChIP-ChIP_HESCs_Human0.87333334
104RBPJ_22232070_ChIP-Seq_NCS_Mouse0.87328149
105VDR_21846776_ChIP-Seq_THP-1_Human0.86881899
106DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.86457288
107SOX17_20123909_ChIP-Seq_XEN_Mouse0.85582958
108OCT4_18692474_ChIP-Seq_MEFs_Mouse0.85082768
109CHD1_26751641_Chip-Seq_LNCaP_Human0.84755565
110TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.84341230
111FOXP1_21924763_ChIP-Seq_HESCs_Human0.84189888
112NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.84071749
113KLF5_18264089_ChIP-ChIP_MESCs_Mouse0.84013769
114KLF4_18264089_ChIP-ChIP_MESCs_Mouse0.84013769
115KLF2_18264089_ChIP-ChIP_MESCs_Mouse0.84013769
116SPI1_23547873_ChIP-Seq_NB4_Human0.83496171

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching5.82349573
2MP0004957_abnormal_blastocyst_morpholog4.77787575
3MP0003111_abnormal_nucleus_morphology4.73352727
4MP0010094_abnormal_chromosome_stability4.57553993
5MP0008057_abnormal_DNA_replication4.50319331
6MP0003077_abnormal_cell_cycle4.13229184
7MP0008058_abnormal_DNA_repair3.54688846
8MP0008007_abnormal_cellular_replicative3.03633450
9MP0008932_abnormal_embryonic_tissue2.80773807
10MP0002396_abnormal_hematopoietic_system2.70075765
11MP0003123_paternal_imprinting2.45296274
12MP0001730_embryonic_growth_arrest2.41815269
13MP0000350_abnormal_cell_proliferation2.25621199
14MP0003786_premature_aging2.21764921
15MP0010352_gastrointestinal_tract_polyps2.03070281
16MP0008877_abnormal_DNA_methylation1.93040008
17MP0005380_embryogenesis_phenotype1.85037481
18MP0001672_abnormal_embryogenesis/_devel1.85037481
19MP0001697_abnormal_embryo_size1.80986681
20MP0003718_maternal_effect1.75054488
21MP0000490_abnormal_crypts_of1.73091120
22MP0002080_prenatal_lethality1.69556761
23MP0003984_embryonic_growth_retardation1.65404994
24MP0002796_impaired_skin_barrier1.62827037
25MP0005501_abnormal_skin_physiology1.60405675
26MP0002088_abnormal_embryonic_growth/wei1.60392796
27MP0002085_abnormal_embryonic_tissue1.57517514
28MP0004808_abnormal_hematopoietic_stem1.57447396
29MP0000313_abnormal_cell_death1.53192861
30MP0009333_abnormal_splenocyte_physiolog1.51358312
31MP0010307_abnormal_tumor_latency1.51335151
32MP0002084_abnormal_developmental_patter1.48951178
33MP0006292_abnormal_olfactory_placode1.46331870
34MP0009697_abnormal_copulation1.43507512
35MP0005451_abnormal_body_composition1.41090808
36MP0003763_abnormal_thymus_physiology1.40775396
37MP0010030_abnormal_orbit_morphology1.38692686
38MP0000678_abnormal_parathyroid_gland1.38681143
39MP0002019_abnormal_tumor_incidence1.37793164
40MP0002086_abnormal_extraembryonic_tissu1.36742385
41MP0003567_abnormal_fetal_cardiomyocyte1.34990037
42MP0003121_genomic_imprinting1.31828254
43MP0004197_abnormal_fetal_growth/weight/1.30633956
44MP0001545_abnormal_hematopoietic_system1.29977267
45MP0005397_hematopoietic_system_phenotyp1.29977267
46MP0001293_anophthalmia1.27905633
47MP0002132_abnormal_respiratory_system1.26588635
48MP0001661_extended_life_span1.25746531
49MP0002653_abnormal_ependyma_morphology1.24545318
50MP0004233_abnormal_muscle_weight1.22775261
51MP0004185_abnormal_adipocyte_glucose1.21972509
52MP0000703_abnormal_thymus_morphology1.20279554
53MP0002877_abnormal_melanocyte_morpholog1.17590771
54MP0004133_heterotaxia1.16325204
55MP0003806_abnormal_nucleotide_metabolis1.13568903
56MP0000358_abnormal_cell_content/1.13466769
57MP0002163_abnormal_gland_morphology1.08634282
58MP0003890_abnormal_embryonic-extraembry1.08564001
59MP0002210_abnormal_sex_determination1.06313687
60MP0002722_abnormal_immune_system1.05263258
61MP0001881_abnormal_mammary_gland1.03983521
62MP0002398_abnormal_bone_marrow1.03689788
63MP0008789_abnormal_olfactory_epithelium1.03632652
64MP0008995_early_reproductive_senescence1.01286375
65MP0003119_abnormal_digestive_system0.99981767
66MP0000689_abnormal_spleen_morphology0.99696707
67MP0001849_ear_inflammation0.99236528
68MP0001145_abnormal_male_reproductive0.97286645
69MP0003941_abnormal_skin_development0.96644562
70MP0003315_abnormal_perineum_morphology0.96510367
71MP0005408_hypopigmentation0.95962183
72MP0003221_abnormal_cardiomyocyte_apopto0.93215680
73MP0002160_abnormal_reproductive_system0.92578002
74MP0006035_abnormal_mitochondrial_morpho0.92107884
75MP0008260_abnormal_autophagy0.92065765
76MP0000858_altered_metastatic_potential0.91515552
77MP0000566_synostosis0.90776550
78MP0009053_abnormal_anal_canal0.88469421
79MP0005384_cellular_phenotype0.88017280
80MP0002111_abnormal_tail_morphology0.87919500
81MP0001346_abnormal_lacrimal_gland0.86698970
82MP0002089_abnormal_postnatal_growth/wei0.84189538
83MP0005075_abnormal_melanosome_morpholog0.81692657
84MP0002429_abnormal_blood_cell0.79355590
85MP0000653_abnormal_sex_gland0.79038204
86MP0005394_taste/olfaction_phenotype0.78404720
87MP0005499_abnormal_olfactory_system0.78404720
88MP0004264_abnormal_extraembryonic_tissu0.78330598
89MP0003705_abnormal_hypodermis_morpholog0.78251926
90MP0005389_reproductive_system_phenotype0.78146705
91MP0001929_abnormal_gametogenesis0.77415533
92MP0005621_abnormal_cell_physiology0.76080006
93MP0002697_abnormal_eye_size0.75815037
94MP0000750_abnormal_muscle_regeneration0.74952924
95MP0000762_abnormal_tongue_morphology0.74819857
96MP0000627_abnormal_mammary_gland0.73213214
97MP0003186_abnormal_redox_activity0.68875163
98MP0000537_abnormal_urethra_morphology0.68788546
99MP0009379_abnormal_foot_pigmentation0.67920535
100MP0001873_stomach_inflammation0.67739267
101MP0001119_abnormal_female_reproductive0.67381054
102MP0005330_cardiomyopathy0.67057552
103MP0001853_heart_inflammation0.66903290
104MP0003699_abnormal_female_reproductive0.66211840
105MP0001216_abnormal_epidermal_layer0.65891997
106MP0001727_abnormal_embryo_implantation0.65734512
107MP0003943_abnormal_hepatobiliary_system0.65033491
108MP0009672_abnormal_birth_weight0.64986789
109MP0001286_abnormal_eye_development0.64906609
110MP0001764_abnormal_homeostasis0.64554370
111MP0000716_abnormal_immune_system0.64343219
112MP0003453_abnormal_keratinocyte_physiol0.63631137
113MP0006036_abnormal_mitochondrial_physio0.63032658
114MP0005076_abnormal_cell_differentiation0.62650741
115MP0000598_abnormal_liver_morphology0.60990917
116MP0003937_abnormal_limbs/digits/tail_de0.60535016
117MP0002060_abnormal_skin_morphology0.60301540
118MP0001919_abnormal_reproductive_system0.59767238
119MP0005023_abnormal_wound_healing0.58598677
120MP0000477_abnormal_intestine_morphology0.57578231
121MP0002102_abnormal_ear_morphology0.57351876
122MP0000428_abnormal_craniofacial_morphol0.57318895
123MP0002234_abnormal_pharynx_morphology0.55545116
124MP0000049_abnormal_middle_ear0.54993909
125MP0008770_decreased_survivor_rate0.54766484
126MP0002114_abnormal_axial_skeleton0.53764611
127MP0002092_abnormal_eye_morphology0.53143882
128MP0002938_white_spotting0.52773413
129MP0009703_decreased_birth_body0.51507276
130MP0003938_abnormal_ear_development0.47193437
131MP0002127_abnormal_cardiovascular_syste0.47140342
132MP0002751_abnormal_autonomic_nervous0.46000592
133MP0005266_abnormal_metabolism0.45757220

Predicted human phenotypes

RankGene SetZ-score
1Birth length less than 3rd percentile (HP:0003561)6.01015606
2Abnormality of cells of the erythroid lineage (HP:0012130)4.82335721
3Breast hypoplasia (HP:0003187)4.57206017
4Abnormal number of erythroid precursors (HP:0012131)4.55492185
5Reticulocytopenia (HP:0001896)4.29516615
6Microvesicular hepatic steatosis (HP:0001414)4.22489379
7Cerebral hypomyelination (HP:0006808)3.74408029
8Patellar aplasia (HP:0006443)3.66534985
9Aplastic anemia (HP:0001915)3.62627175
10Oral leukoplakia (HP:0002745)3.59285298
11Rough bone trabeculation (HP:0100670)3.56571396
12Aplasia/Hypoplasia of the patella (HP:0006498)3.45601770
13Macrocytic anemia (HP:0001972)3.30516310
14Carpal bone hypoplasia (HP:0001498)3.26037480
15Selective tooth agenesis (HP:0001592)3.22253938
16Abnormality of the anterior horn cell (HP:0006802)3.10872538
17Degeneration of anterior horn cells (HP:0002398)3.10872538
18Ependymoma (HP:0002888)3.05194372
19Chromsome breakage (HP:0040012)3.02171840
20Colon cancer (HP:0003003)3.01269181
21Chromosomal breakage induced by crosslinking agents (HP:0003221)2.98748214
22Multiple enchondromatosis (HP:0005701)2.97130157
23Trismus (HP:0000211)2.95087191
24Pallor (HP:0000980)2.91955477
25Abnormality of the labia minora (HP:0012880)2.91270356
26Microretrognathia (HP:0000308)2.90867381
27Medulloblastoma (HP:0002885)2.90304410
28Abnormality of the preputium (HP:0100587)2.87946061
29Meckel diverticulum (HP:0002245)2.79052630
30Cholecystitis (HP:0001082)2.75524137
31Abnormal gallbladder physiology (HP:0012438)2.75524137
32Premature graying of hair (HP:0002216)2.75170502
33Increased hepatocellular lipid droplets (HP:0006565)2.73855724
34Abnormality of the ileum (HP:0001549)2.71405469
35Absent thumb (HP:0009777)2.68871840
36Myelodysplasia (HP:0002863)2.67550712
37Abnormality of reticulocytes (HP:0004312)2.66693832
38Agnosia (HP:0010524)2.64387955
3911 pairs of ribs (HP:0000878)2.59092878
40Progressive external ophthalmoplegia (HP:0000590)2.55530881
41Abnormality of chromosome stability (HP:0003220)2.54504201
42Type I transferrin isoform profile (HP:0003642)2.50492143
43Reduced antithrombin III activity (HP:0001976)2.48580127
44Absent radius (HP:0003974)2.48374058
45Abnormal trabecular bone morphology (HP:0100671)2.47729324
46Bone marrow hypocellularity (HP:0005528)2.47593112
47Abnormal mitochondria in muscle tissue (HP:0008316)2.44626618
48Lipid accumulation in hepatocytes (HP:0006561)2.43650339
49Acute encephalopathy (HP:0006846)2.42822731
50Impulsivity (HP:0100710)2.40916231
51Acute necrotizing encephalopathy (HP:0006965)2.39335884
52Glossoptosis (HP:0000162)2.37079331
53Premature ovarian failure (HP:0008209)2.35620305
54Aplasia/Hypoplasia of the uvula (HP:0010293)2.35204478
55Respiratory difficulties (HP:0002880)2.34384017
56Slender long bone (HP:0003100)2.34130793
57Neoplasm of the pancreas (HP:0002894)2.33142756
58Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.32946832
59Increased CSF lactate (HP:0002490)2.32275173
60Abnormality of methionine metabolism (HP:0010901)2.31620423
61Aplasia involving forearm bones (HP:0009822)2.29402046
62Absent forearm bone (HP:0003953)2.29402046
63Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.28863128
64Abnormal number of incisors (HP:0011064)2.28843921
65Rhabdomyosarcoma (HP:0002859)2.26916267
66Atresia of the external auditory canal (HP:0000413)2.25350459
67Ragged-red muscle fibers (HP:0003200)2.24800337
68Cleft eyelid (HP:0000625)2.24589615
69Hypoplasia of the capital femoral epiphysis (HP:0003090)2.23163972
70Cellular immunodeficiency (HP:0005374)2.22760559
71Irregular epiphyses (HP:0010582)2.22604675
72Nephroblastoma (Wilms tumor) (HP:0002667)2.22169668
73Aplasia/Hypoplasia of the sacrum (HP:0008517)2.22122238
74Small intestinal stenosis (HP:0012848)2.21712643
75Duodenal stenosis (HP:0100867)2.21712643
76Basal cell carcinoma (HP:0002671)2.20099748
77CNS hypomyelination (HP:0003429)2.18860572
78Abnormal lung lobation (HP:0002101)2.17951505
79Supernumerary spleens (HP:0009799)2.17802394
80Secondary amenorrhea (HP:0000869)2.17202663
81Thrombocytosis (HP:0001894)2.16553565
82Atrophy/Degeneration involving motor neurons (HP:0007373)2.14864257
83Tracheoesophageal fistula (HP:0002575)2.14731881
84Hepatocellular necrosis (HP:0001404)2.12320138
85Muscle fiber atrophy (HP:0100295)2.11648579
86Aplasia/Hypoplasia of the sternum (HP:0006714)2.09035007
87Progressive muscle weakness (HP:0003323)2.07729442
88Increased nuchal translucency (HP:0010880)2.06542646
89Mitochondrial inheritance (HP:0001427)2.05733381
90Hepatic necrosis (HP:0002605)2.05039256
91Horseshoe kidney (HP:0000085)2.04102772
92Increased intramyocellular lipid droplets (HP:0012240)2.02654255
93Testicular atrophy (HP:0000029)2.02268090
94Squamous cell carcinoma (HP:0002860)2.02240317
95Embryonal renal neoplasm (HP:0011794)2.01433377
96Exercise intolerance (HP:0003546)1.98089049
97Sloping forehead (HP:0000340)1.97348825
98Triphalangeal thumb (HP:0001199)1.96446692
99Sparse lateral eyebrow (HP:0005338)1.95033240
100Breast aplasia (HP:0100783)1.94710958
101Pancytopenia (HP:0001876)1.94315830
102Type 2 muscle fiber atrophy (HP:0003554)1.93182808
103Lactic acidosis (HP:0003128)1.92445304
104Renal Fanconi syndrome (HP:0001994)1.92216251
105Sparse eyelashes (HP:0000653)1.91949163
106Missing ribs (HP:0000921)1.91681343
107Cerebral edema (HP:0002181)1.90923284
108Asplenia (HP:0001746)1.90841596
109Abnormality of the umbilical cord (HP:0010881)1.90191019
110Proximal placement of thumb (HP:0009623)1.86705509
111Poikiloderma (HP:0001029)1.85036410
112Lymphoma (HP:0002665)1.84661572
113Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)1.84657984
114Absent epiphyses (HP:0010577)1.84657984
115Deviation of the thumb (HP:0009603)1.83047588
116Amaurosis fugax (HP:0100576)1.82781359
117IgM deficiency (HP:0002850)1.82587464
118Abnormality of the duodenum (HP:0002246)1.82571069
119Increased serum pyruvate (HP:0003542)1.82083637
120Abnormality of glycolysis (HP:0004366)1.82083637
121Megaloblastic anemia (HP:0001889)1.81447601
122Pelvic girdle muscle weakness (HP:0003749)1.81310630
123Aplasia/Hypoplasia of the breasts (HP:0010311)1.79275804
124Single umbilical artery (HP:0001195)1.78336309
125Abnormality of the fetal cardiovascular system (HP:0010948)1.78336309
126Abnormal umbilical cord blood vessels (HP:0011403)1.78336309
127Abnormal protein glycosylation (HP:0012346)1.78298702
128Abnormal glycosylation (HP:0012345)1.78298702
129Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.78298702
130Abnormal protein N-linked glycosylation (HP:0012347)1.78298702
131Facial cleft (HP:0002006)1.77712346
132Entropion (HP:0000621)1.77371084
133Hypoplasia of the radius (HP:0002984)1.77226602
134Aplasia/Hypoplasia of the spleen (HP:0010451)1.77113252
135Increased serum lactate (HP:0002151)1.76549159
136Abnormalities of placenta or umbilical cord (HP:0001194)1.76162167
137Short thumb (HP:0009778)1.74529136
138Breech presentation (HP:0001623)1.74140276
139Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.74071883
140Decreased activity of mitochondrial respiratory chain (HP:0008972)1.74071883
141Gout (HP:0001997)1.73825760
142Increased muscle lipid content (HP:0009058)1.70632407
143Abnormality of sulfur amino acid metabolism (HP:0004339)1.69570587
144Nasolacrimal duct obstruction (HP:0000579)1.67853413
145Abnormality of cochlea (HP:0000375)1.65413034
146Muscle abnormality related to mitochondrial dysfunction (HP:0003800)1.64570916

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB15.08810317
2WEE14.43891862
3VRK24.26430053
4NME23.78995699
5SMG13.41030265
6CDC73.35892266
7EIF2AK13.28810057
8TSSK63.22704054
9STK163.16379961
10PBK2.62316785
11SRPK12.39415902
12NEK22.32942515
13BRSK22.08471969
14TTK2.06211978
15PLK42.03395506
16TESK22.01566084
17NEK11.96632868
18RPS6KB21.93705836
19PLK11.90647331
20EPHA21.86931814
21MKNK11.80145922
22VRK11.77412016
23CDK71.75707316
24EIF2AK31.75283209
25PASK1.65420977
26ACVR1B1.59384710
27PLK31.56300854
28ATR1.52296717
29EEF2K1.52098470
30MKNK21.51062930
31PIM21.50801015
32AURKB1.49097117
33TAF11.45677443
34BRSK11.41946237
35DYRK31.36097641
36TLK11.34160546
37MST41.32648097
38CCNB11.24152840
39AURKA1.23439317
40CHEK21.21477242
41TRIB31.21239941
42ICK1.19183113
43MAP3K81.17417799
44PDK21.16258258
45CHEK11.14952724
46CDK41.08355665
47CDK121.06323900
48RPS6KA41.05997437
49TGFBR11.03256974
50PAK40.95938138
51TAOK20.95880904
52NME10.94136629
53CDK80.93658917
54SIK10.93255440
55AKT30.92815772
56MST1R0.91190140
57STK100.90353997
58PIM10.89314505
59ALK0.86951781
60ZAK0.84680142
61ARAF0.84417935
62LATS20.84293173
63FLT30.83371332
64* CDK20.80221125
65MAPKAPK30.78960264
66PAK10.78723371
67PRKCI0.77702095
68MAP2K30.77228703
69ERN10.77074773
70PRPF4B0.76549521
71MAP3K110.75869074
72MAP4K10.75838459
73CSNK2A20.75070985
74ATM0.71283435
75CSNK2A10.67348154
76NUAK10.66871071
77BRAF0.66233532
78STK40.63766609
79CDK190.61570397
80MAP3K100.61284464
81CDK90.59568740
82EIF2AK20.59479402
83CDK10.56684910
84FGFR40.53974212
85SCYL20.52327550
86STK38L0.51258949
87BRD40.50189428
88MELK0.48663429
89ERBB40.47545759
90ZAP700.46970380
91KDR0.46743271
92DYRK20.46133521
93MAP3K30.43414017
94LRRK20.42669719
95GRK60.40983893
96MAPKAPK50.40875427
97CSNK1E0.40452966
98PNCK0.39818833
99BMX0.39182024
100AKT20.37795592
101IRAK30.36397570
102MAP3K130.35659497
103ILK0.35579763
104BCKDK0.35357680
105PKN20.35255373
106TESK10.34539180
107RPS6KA50.33104729
108MARK30.32529787
109FGFR10.30356756
110TAOK10.30179219
111DAPK10.29925364
112PAK20.29444890
113BTK0.26373674
114SIK30.26357593
115MAP3K50.26098606
116STK240.25889163
117IRAK20.25793542
118MTOR0.25106740
119CLK10.25015716
120PRKDC0.23719319
121TXK0.23684175
122PDK30.20878999
123PDK40.20878999
124STK30.20376186
125RAF10.20351209
126YES10.19896802

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030304.62241015
2* Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030084.16509613
3Ribosome_Homo sapiens_hsa030104.13853968
4Mismatch repair_Homo sapiens_hsa034304.00293836
5RNA polymerase_Homo sapiens_hsa030203.97166330
6Proteasome_Homo sapiens_hsa030503.55148976
7Spliceosome_Homo sapiens_hsa030403.49616914
8RNA transport_Homo sapiens_hsa030133.30948117
9Base excision repair_Homo sapiens_hsa034102.92989066
10Nucleotide excision repair_Homo sapiens_hsa034202.78010160
11Homologous recombination_Homo sapiens_hsa034402.77778639
12Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.69140409
13Pyrimidine metabolism_Homo sapiens_hsa002402.64083169
14Cell cycle_Homo sapiens_hsa041102.54678531
15One carbon pool by folate_Homo sapiens_hsa006702.49283925
16Fanconi anemia pathway_Homo sapiens_hsa034602.11762645
17Basal transcription factors_Homo sapiens_hsa030221.95345916
18RNA degradation_Homo sapiens_hsa030181.93496759
19Non-homologous end-joining_Homo sapiens_hsa034501.78716151
20mRNA surveillance pathway_Homo sapiens_hsa030151.74525547
21p53 signaling pathway_Homo sapiens_hsa041151.54139237
22Purine metabolism_Homo sapiens_hsa002301.49484064
23Vitamin B6 metabolism_Homo sapiens_hsa007501.37253471
24Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.35783952
25Epstein-Barr virus infection_Homo sapiens_hsa051691.32155985
26Pyruvate metabolism_Homo sapiens_hsa006201.10325985
27Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.02647112
28Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.99940183
29Biosynthesis of amino acids_Homo sapiens_hsa012300.94924672
30Cysteine and methionine metabolism_Homo sapiens_hsa002700.93107125
31Cyanoamino acid metabolism_Homo sapiens_hsa004600.91085975
32Oocyte meiosis_Homo sapiens_hsa041140.87995632
33Fatty acid elongation_Homo sapiens_hsa000620.87949512
34Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.84828100
35Pentose phosphate pathway_Homo sapiens_hsa000300.83003541
36Folate biosynthesis_Homo sapiens_hsa007900.82151884
37Antigen processing and presentation_Homo sapiens_hsa046120.79625337
38Herpes simplex infection_Homo sapiens_hsa051680.78838572
39Protein export_Homo sapiens_hsa030600.77535149
40Viral carcinogenesis_Homo sapiens_hsa052030.75918000
41Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.75493046
42Alzheimers disease_Homo sapiens_hsa050100.66363000
43Huntingtons disease_Homo sapiens_hsa050160.65846672
44HTLV-I infection_Homo sapiens_hsa051660.65021177
45Sulfur relay system_Homo sapiens_hsa041220.63420852
462-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.61097433
47Steroid biosynthesis_Homo sapiens_hsa001000.60901337
48Primary immunodeficiency_Homo sapiens_hsa053400.58487174
49Drug metabolism - other enzymes_Homo sapiens_hsa009830.57515327
50Fructose and mannose metabolism_Homo sapiens_hsa000510.56763380
51Parkinsons disease_Homo sapiens_hsa050120.55838970
52Systemic lupus erythematosus_Homo sapiens_hsa053220.55599806
53Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.53280581
54Thyroid cancer_Homo sapiens_hsa052160.51635794
55Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.49185267
56Propanoate metabolism_Homo sapiens_hsa006400.48483693
57Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.47862392
58Carbon metabolism_Homo sapiens_hsa012000.47240100
59Legionellosis_Homo sapiens_hsa051340.45663749
60Selenocompound metabolism_Homo sapiens_hsa004500.44129950
61Sulfur metabolism_Homo sapiens_hsa009200.43301356
62MicroRNAs in cancer_Homo sapiens_hsa052060.40877671
63Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.40613170
64N-Glycan biosynthesis_Homo sapiens_hsa005100.40362002
65Chronic myeloid leukemia_Homo sapiens_hsa052200.37748388
66Glutathione metabolism_Homo sapiens_hsa004800.37695432
67Oxidative phosphorylation_Homo sapiens_hsa001900.37248597
68Regulation of autophagy_Homo sapiens_hsa041400.35612371
69Vitamin digestion and absorption_Homo sapiens_hsa049770.35274125
70Apoptosis_Homo sapiens_hsa042100.35070535
71Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.33255832
72Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.32700440
73Fatty acid metabolism_Homo sapiens_hsa012120.31762322
74Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.31721554
75Shigellosis_Homo sapiens_hsa051310.31527789
76Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.30823830
77Lysine degradation_Homo sapiens_hsa003100.30570363
78Notch signaling pathway_Homo sapiens_hsa043300.30453443
79Galactose metabolism_Homo sapiens_hsa000520.29831854
80Transcriptional misregulation in cancer_Homo sapiens_hsa052020.29707578
81Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.29567762
82Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.29462879
83Small cell lung cancer_Homo sapiens_hsa052220.29318455
84Measles_Homo sapiens_hsa051620.28898275
85Hippo signaling pathway_Homo sapiens_hsa043900.28270715
86Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.27576413
87Basal cell carcinoma_Homo sapiens_hsa052170.26745174
88HIF-1 signaling pathway_Homo sapiens_hsa040660.26423941
89Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.24519324
90Metabolic pathways_Homo sapiens_hsa011000.24505822
91NF-kappa B signaling pathway_Homo sapiens_hsa040640.24441664
92TGF-beta signaling pathway_Homo sapiens_hsa043500.24417239
93Colorectal cancer_Homo sapiens_hsa052100.22735087
94Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.21455979
95Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.19854171
96Hepatitis B_Homo sapiens_hsa051610.18801707
97Acute myeloid leukemia_Homo sapiens_hsa052210.18225998
98Intestinal immune network for IgA production_Homo sapiens_hsa046720.18180651
99Pancreatic cancer_Homo sapiens_hsa052120.17137076
100Phenylalanine metabolism_Homo sapiens_hsa003600.17019091
101Pentose and glucuronate interconversions_Homo sapiens_hsa000400.17018256
102Bladder cancer_Homo sapiens_hsa052190.16907891
103Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.16601912
104Central carbon metabolism in cancer_Homo sapiens_hsa052300.15543559
105Arginine biosynthesis_Homo sapiens_hsa002200.14947089
106Pathways in cancer_Homo sapiens_hsa052000.13894870
107Wnt signaling pathway_Homo sapiens_hsa043100.13776183
108Hedgehog signaling pathway_Homo sapiens_hsa043400.13602533
109Alcoholism_Homo sapiens_hsa050340.12874522
110Influenza A_Homo sapiens_hsa051640.12566148
111Tyrosine metabolism_Homo sapiens_hsa003500.12493848
112Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.12033675
113Hematopoietic cell lineage_Homo sapiens_hsa046400.11486814
114Arginine and proline metabolism_Homo sapiens_hsa003300.11235455
115NOD-like receptor signaling pathway_Homo sapiens_hsa046210.09198127
116mTOR signaling pathway_Homo sapiens_hsa041500.09075517
117Arachidonic acid metabolism_Homo sapiens_hsa005900.08620839
118Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.08474813
119Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.07625785
120Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.06303026
121Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.06271725

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