MYCBP

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: The protein encoded by this gene binds to the N-terminus of the oncogenic protein C-MYC, enhancing the ability of C-MYC to activate E box-dependent transcription. The encoded protein is normally found in the cytoplasm, but it translocates to the nucleus during S phase of the cell cycle and associates with C-MYC. This protein may be involved in spermatogenesis. This gene can be silenced by microRNA-22. Two transcript variants, one protein-coding and the other probably not protein-coding, have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1proteasome assembly (GO:0043248)4.80984475
2maturation of SSU-rRNA (GO:0030490)4.79475092
3ribosomal small subunit assembly (GO:0000028)4.38573260
4ribosomal small subunit biogenesis (GO:0042274)4.38346883
5CENP-A containing nucleosome assembly (GO:0034080)4.25055986
6axonemal dynein complex assembly (GO:0070286)4.12642224
7chromatin remodeling at centromere (GO:0031055)4.11893850
8protein neddylation (GO:0045116)4.06832146
9viral transcription (GO:0019083)4.03174698
10translational termination (GO:0006415)3.99920204
11negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.96838364
12ribosomal large subunit biogenesis (GO:0042273)3.91763940
13SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.91419452
14cotranslational protein targeting to membrane (GO:0006613)3.87485755
15purine nucleobase biosynthetic process (GO:0009113)3.87189884
16positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.84741775
17DNA replication checkpoint (GO:0000076)3.83583505
18protein targeting to ER (GO:0045047)3.82437252
19regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.82006075
20telomere maintenance via semi-conservative replication (GO:0032201)3.80930262
21nucleobase biosynthetic process (GO:0046112)3.80164254
22DNA strand elongation involved in DNA replication (GO:0006271)3.79592655
23anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.79019199
24mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.78705274
25rRNA modification (GO:0000154)3.78024983
26transcription elongation from RNA polymerase III promoter (GO:0006385)3.76107281
27termination of RNA polymerase III transcription (GO:0006386)3.76107281
28regulation of cellular amino acid metabolic process (GO:0006521)3.74716183
29L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.73969081
30respiratory electron transport chain (GO:0022904)3.71650454
31electron transport chain (GO:0022900)3.66390919
32cullin deneddylation (GO:0010388)3.65649182
33telomere maintenance via recombination (GO:0000722)3.64680738
34DNA strand elongation (GO:0022616)3.64120570
35protein localization to endoplasmic reticulum (GO:0070972)3.63883514
36establishment of protein localization to endoplasmic reticulum (GO:0072599)3.63334619
37mitotic metaphase plate congression (GO:0007080)3.63101317
38DNA deamination (GO:0045006)3.62697033
39negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.61275246
40negative regulation of ligase activity (GO:0051352)3.61275246
41ribonucleoprotein complex biogenesis (GO:0022613)3.58739043
42translational elongation (GO:0006414)3.58245018
43protein deneddylation (GO:0000338)3.57864385
44mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.57713363
45kinetochore organization (GO:0051383)3.55051838
467-methylguanosine mRNA capping (GO:0006370)3.54754611
47DNA replication-independent nucleosome organization (GO:0034724)3.54648388
48DNA replication-independent nucleosome assembly (GO:0006336)3.54648388
49translational initiation (GO:0006413)3.53881468
50translation (GO:0006412)3.51617378
51formation of translation preinitiation complex (GO:0001731)3.51015745
52DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.50360915
53DNA replication initiation (GO:0006270)3.49144635
54histone exchange (GO:0043486)3.47739389
557-methylguanosine RNA capping (GO:0009452)3.47457877
56RNA capping (GO:0036260)3.47457877
57kinetochore assembly (GO:0051382)3.46193420
58GTP biosynthetic process (GO:0006183)3.45971396
59establishment of integrated proviral latency (GO:0075713)3.44602635
60signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.44503434
61intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.44503434
62ribosome assembly (GO:0042255)3.44329365
63signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.44290086
64signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.44290086
65signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.44290086
66pyrimidine deoxyribonucleotide catabolic process (GO:0009223)3.39724775
67guanosine-containing compound biosynthetic process (GO:1901070)3.37316213
68chaperone-mediated protein transport (GO:0072321)3.36972501
69rRNA processing (GO:0006364)3.36289965
70pyrimidine deoxyribonucleotide metabolic process (GO:0009219)3.35248605
71positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.34688708
72signal transduction involved in DNA integrity checkpoint (GO:0072401)3.33255065
73signal transduction involved in DNA damage checkpoint (GO:0072422)3.33255065
74ATP synthesis coupled proton transport (GO:0015986)3.32147617
75energy coupled proton transport, down electrochemical gradient (GO:0015985)3.32147617
76mitotic recombination (GO:0006312)3.31475189
77L-methionine salvage (GO:0071267)3.31419860
78L-methionine biosynthetic process (GO:0071265)3.31419860
79amino acid salvage (GO:0043102)3.31419860
80establishment of protein localization to mitochondrial membrane (GO:0090151)3.28935599
81signal transduction involved in cell cycle checkpoint (GO:0072395)3.28731952
82positive regulation of ligase activity (GO:0051351)3.28052597
83transcription-coupled nucleotide-excision repair (GO:0006283)3.27801150
84antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:3.26015511
85rRNA metabolic process (GO:0016072)3.23530834
86nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.21868683
87protein localization to kinetochore (GO:0034501)3.21429397
88spliceosomal snRNP assembly (GO:0000387)3.21361088
89ribosome biogenesis (GO:0042254)3.21343820
90regulation of double-strand break repair via homologous recombination (GO:0010569)3.19455081
91maturation of 5.8S rRNA (GO:0000460)3.19310138
92mitochondrial respiratory chain complex assembly (GO:0033108)3.19004567
93attachment of spindle microtubules to kinetochore (GO:0008608)3.18671847
94UTP biosynthetic process (GO:0006228)3.16611262
95protein complex biogenesis (GO:0070271)3.16268153
96cellular protein complex disassembly (GO:0043624)3.14982395
97protein localization to chromosome, centromeric region (GO:0071459)3.14038762
98protein targeting to mitochondrion (GO:0006626)3.13612437
99deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.13361205
100rRNA methylation (GO:0031167)3.12606096
101viral life cycle (GO:0019058)3.12373586
102metaphase plate congression (GO:0051310)3.11588647
103exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.10290581
104cellular component biogenesis (GO:0044085)3.10093674
105regulation of mitochondrial translation (GO:0070129)3.06415424
106IMP biosynthetic process (GO:0006188)3.06185394
107respiratory chain complex IV assembly (GO:0008535)3.05650882
108nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.05496412
109G1/S transition of mitotic cell cycle (GO:0000082)3.04098715
110cell cycle G1/S phase transition (GO:0044843)3.04098715
111mitochondrial respiratory chain complex I assembly (GO:0032981)3.03249105
112NADH dehydrogenase complex assembly (GO:0010257)3.03249105
113mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.03249105
114pseudouridine synthesis (GO:0001522)3.02721633
115oxidative phosphorylation (GO:0006119)3.01633094
116nucleotide-excision repair, DNA gap filling (GO:0006297)3.01597429
117DNA ligation (GO:0006266)3.01380557
118DNA catabolic process, exonucleolytic (GO:0000738)3.00704721
119antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)3.00619041
120telomere maintenance via telomere lengthening (GO:0010833)2.99628452
121transcription elongation from RNA polymerase II promoter (GO:0006368)2.99011009
122regulation of ubiquitin-protein transferase activity (GO:0051438)2.95223595
123motile cilium assembly (GO:0044458)2.91560550
124histone mRNA metabolic process (GO:0008334)2.91339456
125tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.91275819
126RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.91275819
127regulation of ligase activity (GO:0051340)2.88594540

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human5.56663302
2KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.70720335
3MYC_18555785_ChIP-Seq_MESCs_Mouse4.32886770
4* GABP_17652178_ChIP-ChIP_JURKAT_Human4.12733829
5EST1_17652178_ChIP-ChIP_JURKAT_Human3.97762492
6JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.67514727
7CREB1_15753290_ChIP-ChIP_HEK293T_Human3.50396325
8ETS1_20019798_ChIP-Seq_JURKAT_Human3.40386187
9CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human3.26882072
10EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.25669555
11E2F4_17652178_ChIP-ChIP_JURKAT_Human3.03904527
12NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.96815651
13MYC_18358816_ChIP-ChIP_MESCs_Mouse2.95357411
14CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.93649359
15* MYC_19030024_ChIP-ChIP_MESCs_Mouse2.87180518
16FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.84279786
17HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.72260629
18SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.72035905
19MYC_19079543_ChIP-ChIP_MESCs_Mouse2.70389021
20HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.69711697
21VDR_23849224_ChIP-Seq_CD4+_Human2.60524500
22NELFA_20434984_ChIP-Seq_ESCs_Mouse2.41806885
23DCP1A_22483619_ChIP-Seq_HELA_Human2.39127427
24E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.37596156
25ELF1_17652178_ChIP-ChIP_JURKAT_Human2.32681634
26E2F1_18555785_ChIP-Seq_MESCs_Mouse2.31266215
27AR_21909140_ChIP-Seq_LNCAP_Human2.30010982
28ELK1_19687146_ChIP-ChIP_HELA_Human2.23549277
29XRN2_22483619_ChIP-Seq_HELA_Human2.22770056
30FOXP3_21729870_ChIP-Seq_TREG_Human2.18951080
31FOXM1_23109430_ChIP-Seq_U2OS_Human2.15513744
32SRF_21415370_ChIP-Seq_HL-1_Mouse2.10959177
33* GABP_19822575_ChIP-Seq_HepG2_Human2.01603777
34MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.95671727
35RBPJ_22232070_ChIP-Seq_NCS_Mouse1.94861116
36TTF2_22483619_ChIP-Seq_HELA_Human1.94157379
37PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.93167487
38* FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.92398305
39* MYCN_18555785_ChIP-Seq_MESCs_Mouse1.83707453
40MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.82726982
41* PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.77843942
42THAP11_20581084_ChIP-Seq_MESCs_Mouse1.75379985
43* HOXB4_20404135_ChIP-ChIP_EML_Mouse1.68606038
44YY1_21170310_ChIP-Seq_MESCs_Mouse1.66466353
45* POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.64870891
46TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.63816506
47SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.59590830
48E2F1_21310950_ChIP-Seq_MCF-7_Human1.53444866
49YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.51530583
50MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.45576824
51PADI4_21655091_ChIP-ChIP_MCF-7_Human1.45525990
52ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.42328410
53ZFX_18555785_ChIP-Seq_MESCs_Mouse1.40752610
54ELK1_22589737_ChIP-Seq_MCF10A_Human1.38123505
55NANOG_18555785_ChIP-Seq_MESCs_Mouse1.37555103
56ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.33936506
57MYC_18940864_ChIP-ChIP_HL60_Human1.31977725
58* KDM5A_27292631_Chip-Seq_BREAST_Human1.30888806
59ERG_20887958_ChIP-Seq_HPC-7_Mouse1.25798973
60CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.21937883
61KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.20768543
62* CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.19771956
63HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.17339523
64TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.17079590
65FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.14570207
66POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.13728563
67CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.11639718
68SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.11281462
69NOTCH1_21737748_ChIP-Seq_TLL_Human1.10974611
70* E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.06288682
71HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.05190810
72TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.05075078
73BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.04286043
74CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human1.00826576
75* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.99506239
76FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.98584550
77* ELF5_23300383_ChIP-Seq_T47D_Human0.95342071
78SOX17_20123909_ChIP-Seq_XEN_Mouse0.94146688
79CCND1_20090754_ChIP-ChIP_RETINA_Mouse0.93999330
80IRF8_22096565_ChIP-ChIP_GC-B_Mouse0.93899493
81CIITA_25753668_ChIP-Seq_RAJI_Human0.91804637
82* KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.91230320
83IRF1_19129219_ChIP-ChIP_H3396_Human0.91163070
84* KLF4_18555785_ChIP-Seq_MESCs_Mouse0.89354921
85EWS_26573619_Chip-Seq_HEK293_Human0.86524547
86* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.83539851
87NANOG_16153702_ChIP-ChIP_HESCs_Human0.82655925
88CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.81385302
89KAP1_22055183_ChIP-Seq_ESCs_Mouse0.81090759
90HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.80419345
91VDR_22108803_ChIP-Seq_LS180_Human0.79802782
92TFEB_21752829_ChIP-Seq_HELA_Human0.79681592
93SMAD4_19686287_ChIP-ChIP_HaCaT_Human0.79079472
94SOX2_18555785_ChIP-Seq_MESCs_Mouse0.77179945
95DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.76871158
96ZNF263_19887448_ChIP-Seq_K562_Human0.76605484
97TP63_19390658_ChIP-ChIP_HaCaT_Human0.76061356
98TBX5_21415370_ChIP-Seq_HL-1_Mouse0.75632719
99DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.71154868
100TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse0.70823547
101STAT3_1855785_ChIP-Seq_MESCs_Mouse0.70042963
102ERG_20517297_ChIP-Seq_VCAP_Human0.69844857
103ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.69703226
104* GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.68683241
105POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.68008627
106NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.67259541
107* RBPJ_21746931_ChIP-Seq_IB4_Human0.67116844
108FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.66533851
109SPI1_23547873_ChIP-Seq_NB4_Human0.65997238
110PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.63379544
111SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.58740573
112NANOG_21062744_ChIP-ChIP_HESCs_Human0.57929020
113GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.57165519

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching5.59957150
2MP0004957_abnormal_blastocyst_morpholog3.98184961
3MP0010094_abnormal_chromosome_stability3.82349756
4MP0008058_abnormal_DNA_repair3.30105962
5MP0003806_abnormal_nucleotide_metabolis3.29989243
6MP0008057_abnormal_DNA_replication3.23245940
7MP0003111_abnormal_nucleus_morphology3.20504802
8MP0003077_abnormal_cell_cycle3.15555680
9MP0003718_maternal_effect2.98028131
10MP0008877_abnormal_DNA_methylation2.96601879
11MP0009379_abnormal_foot_pigmentation2.74932671
12MP0008932_abnormal_embryonic_tissue2.70020428
13MP0003186_abnormal_redox_activity2.57365407
14MP0003786_premature_aging2.49038699
15MP0008007_abnormal_cellular_replicative2.48243244
16MP0003123_paternal_imprinting2.36870642
17MP0009697_abnormal_copulation1.90558504
18MP0002277_abnormal_respiratory_mucosa1.78994296
19MP0002160_abnormal_reproductive_system1.77159793
20MP0002210_abnormal_sex_determination1.74946878
21MP0006036_abnormal_mitochondrial_physio1.64399293
22MP0010307_abnormal_tumor_latency1.62794075
23MP0003567_abnormal_fetal_cardiomyocyte1.58637974
24MP0001730_embryonic_growth_arrest1.58528963
25MP0001835_abnormal_antigen_presentation1.57338087
26MP0001929_abnormal_gametogenesis1.56504329
27MP0005408_hypopigmentation1.53705808
28MP0003941_abnormal_skin_development1.51120388
29MP0002132_abnormal_respiratory_system1.49657128
30MP0000350_abnormal_cell_proliferation1.48253896
31MP0005451_abnormal_body_composition1.48019645
32MP0001145_abnormal_male_reproductive1.44219303
33MP0004147_increased_porphyrin_level1.43165880
34MP0008789_abnormal_olfactory_epithelium1.41234906
35MP0000372_irregular_coat_pigmentation1.40525543
36MP0000653_abnormal_sex_gland1.39685529
37MP0005389_reproductive_system_phenotype1.37645615
38MP0001853_heart_inflammation1.35438075
39MP0005464_abnormal_platelet_physiology1.34784129
40MP0001881_abnormal_mammary_gland1.30233113
41MP0001542_abnormal_bone_strength1.30060582
42MP0001984_abnormal_olfaction1.25232009
43MP0003656_abnormal_erythrocyte_physiolo1.20734382
44MP0003315_abnormal_perineum_morphology1.17789561
45MP0001672_abnormal_embryogenesis/_devel1.11095600
46MP0005380_embryogenesis_phenotype1.11095600
47MP0008995_early_reproductive_senescence1.11081715
48MP0001697_abnormal_embryo_size1.09365861
49MP0001119_abnormal_female_reproductive1.08771872
50MP0001764_abnormal_homeostasis1.06847584
51MP0002163_abnormal_gland_morphology1.05913517
52MP0001873_stomach_inflammation1.05584018
53MP0005501_abnormal_skin_physiology1.03555680
54MP0009333_abnormal_splenocyte_physiolog1.03482992
55MP0005395_other_phenotype1.02945589
56MP0002396_abnormal_hematopoietic_system1.01602312
57MP0002653_abnormal_ependyma_morphology1.00076874
58MP0003984_embryonic_growth_retardation0.99708144
59MP0005084_abnormal_gallbladder_morpholo0.98623638
60MP0005083_abnormal_biliary_tract0.96933825
61MP0002080_prenatal_lethality0.96709912
62MP0003221_abnormal_cardiomyocyte_apopto0.95583786
63MP0002088_abnormal_embryonic_growth/wei0.95080832
64MP0005671_abnormal_response_to0.94787728
65MP0002938_white_spotting0.94415060
66MP0001529_abnormal_vocalization0.93802975
67MP0006035_abnormal_mitochondrial_morpho0.93454542
68MP0003890_abnormal_embryonic-extraembry0.93142474
69MP0000490_abnormal_crypts_of0.91896228
70MP0006292_abnormal_olfactory_placode0.90205454
71MP0003698_abnormal_male_reproductive0.89618894
72MP0003136_yellow_coat_color0.89532137
73MP0008260_abnormal_autophagy0.89009879
74MP0002148_abnormal_hypersensitivity_rea0.88417435
75MP0000313_abnormal_cell_death0.88222564
76MP0000703_abnormal_thymus_morphology0.87844538
77MP0000678_abnormal_parathyroid_gland0.87771889
78MP0003121_genomic_imprinting0.86170412
79MP0005379_endocrine/exocrine_gland_phen0.85962853
80MP0008873_increased_physiological_sensi0.85734914
81MP0001919_abnormal_reproductive_system0.85425290
82MP0002019_abnormal_tumor_incidence0.85046188
83MP0005266_abnormal_metabolism0.84562301
84MP0002398_abnormal_bone_marrow0.83663930
85MP0002796_impaired_skin_barrier0.83661524
86MP0002085_abnormal_embryonic_tissue0.83502789
87MP0009765_abnormal_xenobiotic_induced0.83060133
88MP0003937_abnormal_limbs/digits/tail_de0.82258631
89MP0009785_altered_susceptibility_to0.82033456
90MP0002722_abnormal_immune_system0.81462818
91MP0003646_muscle_fatigue0.81063517
92MP0000358_abnormal_cell_content/0.79726828
93MP0005499_abnormal_olfactory_system0.79178400
94MP0005394_taste/olfaction_phenotype0.79178400
95MP0008872_abnormal_physiological_respon0.78364118
96MP0004019_abnormal_vitamin_homeostasis0.77987441
97MP0003011_delayed_dark_adaptation0.75692371
98MP0000689_abnormal_spleen_morphology0.74534199
99MP0002095_abnormal_skin_pigmentation0.72908555
100MP0004381_abnormal_hair_follicle0.72895416
101MP0001727_abnormal_embryo_implantation0.72853316
102MP0009053_abnormal_anal_canal0.72731714
103MP0002139_abnormal_hepatobiliary_system0.72313871
104MP0001293_anophthalmia0.71507957
105MP0002429_abnormal_blood_cell0.70901179
106MP0010155_abnormal_intestine_physiology0.69503179
107MP0006072_abnormal_retinal_apoptosis0.69072836
108MP0004782_abnormal_surfactant_physiolog0.67553090
109MP0005319_abnormal_enzyme/_coenzyme0.67414967
110MP0001986_abnormal_taste_sensitivity0.67348879
111MP0001286_abnormal_eye_development0.67165019
112MP0002161_abnormal_fertility/fecundity0.67130141
113MP0003950_abnormal_plasma_membrane0.65216183
114MP0001800_abnormal_humoral_immune0.63653978
115MP0001666_abnormal_nutrient_absorption0.63381998
116MP0000627_abnormal_mammary_gland0.63143808
117MP0004043_abnormal_pH_regulation0.63084009
118MP0001346_abnormal_lacrimal_gland0.62774979
119MP0005075_abnormal_melanosome_morpholog0.61974763
120MP0005410_abnormal_fertilization0.61367199
121MP0002098_abnormal_vibrissa_morphology0.61083606
122MP0000858_altered_metastatic_potential0.60480269
123MP0003699_abnormal_female_reproductive0.59715649
124MP0010030_abnormal_orbit_morphology0.59706548
125MP0009763_increased_sensitivity_to0.59161642
126MP0001905_abnormal_dopamine_level0.59014228
127MP0005332_abnormal_amino_acid0.58457656
128MP0002084_abnormal_developmental_patter0.57458768
129MP0000613_abnormal_salivary_gland0.57161656
130MP0001545_abnormal_hematopoietic_system0.57123420
131MP0005397_hematopoietic_system_phenotyp0.57123420
132MP0005636_abnormal_mineral_homeostasis0.55507266
133MP0001661_extended_life_span0.54694216
134MP0008875_abnormal_xenobiotic_pharmacok0.54108777
135MP0005376_homeostasis/metabolism_phenot0.53464627

Predicted human phenotypes

RankGene SetZ-score
1Dynein arm defect of respiratory motile cilia (HP:0012255)4.80632467
2Absent/shortened dynein arms (HP:0200106)4.80632467
3Acute necrotizing encephalopathy (HP:0006965)3.87381037
4Birth length less than 3rd percentile (HP:0003561)3.81542875
5Abnormality of cells of the erythroid lineage (HP:0012130)3.76260990
6Chronic bronchitis (HP:0004469)3.76101925
7Reticulocytopenia (HP:0001896)3.69532713
8Irregular epiphyses (HP:0010582)3.60446572
9Abnormal number of erythroid precursors (HP:0012131)3.46369866
10Carpal bone hypoplasia (HP:0001498)3.44845346
11Mitochondrial inheritance (HP:0001427)3.43214121
12Breast hypoplasia (HP:0003187)3.39858928
13Abnormal mitochondria in muscle tissue (HP:0008316)3.36711994
14Increased hepatocellular lipid droplets (HP:0006565)3.33476514
15Macrocytic anemia (HP:0001972)3.29434906
16Acute encephalopathy (HP:0006846)3.27468856
17Increased CSF lactate (HP:0002490)3.18829066
18Lipid accumulation in hepatocytes (HP:0006561)3.15481506
19Bronchiectasis (HP:0002110)3.12264630
20Hepatocellular necrosis (HP:0001404)3.07764674
21Cerebral hypomyelination (HP:0006808)3.05300541
223-Methylglutaconic aciduria (HP:0003535)3.05121015
23Aplastic anemia (HP:0001915)3.03508334
24Hepatic necrosis (HP:0002605)3.00909311
25Rough bone trabeculation (HP:0100670)2.94711692
26Abnormality of glycolysis (HP:0004366)2.90932918
27Increased serum pyruvate (HP:0003542)2.90932918
28Progressive macrocephaly (HP:0004481)2.90100450
29Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.86430730
30Decreased activity of mitochondrial respiratory chain (HP:0008972)2.86430730
31Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.86289555
32Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.81143102
33Abnormal spermatogenesis (HP:0008669)2.72206405
34Renal Fanconi syndrome (HP:0001994)2.70747850
35Increased serum lactate (HP:0002151)2.70377710
36Secondary amenorrhea (HP:0000869)2.68212956
37Exertional dyspnea (HP:0002875)2.67028839
38Oral leukoplakia (HP:0002745)2.64871627
39Pallor (HP:0000980)2.54999372
40Exercise intolerance (HP:0003546)2.48349332
41Cerebral edema (HP:0002181)2.43538401
42Aplasia/Hypoplasia of the sacrum (HP:0008517)2.35036867
43Microretrognathia (HP:0000308)2.34572744
44Type I transferrin isoform profile (HP:0003642)2.34252604
45Pancreatic fibrosis (HP:0100732)2.33900162
46Chromsome breakage (HP:0040012)2.31198135
47Adrenal hypoplasia (HP:0000835)2.31030809
48Abnormality of methionine metabolism (HP:0010901)2.29721597
49Congenital nonbullous ichthyosiform erythroderma (HP:0007479)2.28679852
50Dyschromatopsia (HP:0007641)2.27423231
51Lactic acidosis (HP:0003128)2.27160142
52Degeneration of anterior horn cells (HP:0002398)2.26323587
53Abnormality of the anterior horn cell (HP:0006802)2.26323587
54Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.26124016
55Pancreatic cysts (HP:0001737)2.24757060
56Premature ovarian failure (HP:0008209)2.24156860
57Respiratory difficulties (HP:0002880)2.23290233
58Abnormal protein glycosylation (HP:0012346)2.22345323
59Abnormal glycosylation (HP:0012345)2.22345323
60Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.22345323
61Abnormal protein N-linked glycosylation (HP:0012347)2.22345323
62Respiratory failure (HP:0002878)2.21695555
63Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.20946855
64Azoospermia (HP:0000027)2.20195998
65Abnormal trabecular bone morphology (HP:0100671)2.20012310
66Increased intramyocellular lipid droplets (HP:0012240)2.19507160
67Megaloblastic anemia (HP:0001889)2.17208574
68Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)2.13964436
69Absent epiphyses (HP:0010577)2.13964436
70Congenital, generalized hypertrichosis (HP:0004540)2.11418245
71Male infertility (HP:0003251)2.10678383
72Nasal polyposis (HP:0100582)2.10551184
73Impulsivity (HP:0100710)2.07600173
74Hypoplasia of the capital femoral epiphysis (HP:0003090)2.07054479
75Abnormality of the preputium (HP:0100587)2.06771947
76Abnormal respiratory epithelium morphology (HP:0012253)2.06662462
77Abnormal respiratory motile cilium morphology (HP:0005938)2.06662462
78Patellar aplasia (HP:0006443)2.06005566
79Meckel diverticulum (HP:0002245)2.05652067
80Absent thumb (HP:0009777)2.04615577
81Sparse eyelashes (HP:0000653)2.02213340
82Abnormal respiratory motile cilium physiology (HP:0012261)2.02188842
83Methylmalonic acidemia (HP:0002912)2.01742650
84Aplasia/Hypoplasia of the uvula (HP:0010293)2.01629070
85Aplasia/Hypoplasia involving the musculature (HP:0001460)2.01172614
86Colon cancer (HP:0003003)2.00487964
87Supernumerary spleens (HP:0009799)1.99695491
88Abnormal hemoglobin (HP:0011902)1.99690371
89Hyperalaninemia (HP:0003348)1.98413284
90Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.98413284
91Abnormality of alanine metabolism (HP:0010916)1.98413284
92Abnormality of chromosome stability (HP:0003220)1.98261841
93Increased muscle lipid content (HP:0009058)1.97742891
94Trismus (HP:0000211)1.97260230
95Microvesicular hepatic steatosis (HP:0001414)1.97224202
96Congenital ichthyosiform erythroderma (HP:0007431)1.96894607
97Abnormality of urine glucose concentration (HP:0011016)1.96778236
98Glycosuria (HP:0003076)1.96778236
99Abnormality of renal resorption (HP:0011038)1.95808967
100Petechiae (HP:0000967)1.94916921
101Genu varum (HP:0002970)1.92688105
102Aplasia/Hypoplasia of the patella (HP:0006498)1.92302084
103Cleft eyelid (HP:0000625)1.92139016
104Leukodystrophy (HP:0002415)1.91731730
105Horseshoe kidney (HP:0000085)1.91556460
106Chronic sinusitis (HP:0011109)1.91453995
107Pancytopenia (HP:0001876)1.91320867
108Infertility (HP:0000789)1.91147306
109Poor head control (HP:0002421)1.90633075
110Abnormality of aspartate family amino acid metabolism (HP:0010899)1.89338138
111Parakeratosis (HP:0001036)1.88844230
112Chromosomal breakage induced by crosslinking agents (HP:0003221)1.88639357
113Abnormality of the ileum (HP:0001549)1.87414963
114Abnormal ciliary motility (HP:0012262)1.87194673
115Rhinitis (HP:0012384)1.86712863
116Reduced antithrombin III activity (HP:0001976)1.86615019
11711 pairs of ribs (HP:0000878)1.85661339
118Facial cleft (HP:0002006)1.85639177
119Short middle phalanx of the 5th finger (HP:0004220)1.84989751
120Lethargy (HP:0001254)1.84861480
121Abnormality of placental membranes (HP:0011409)1.83684663
122Amniotic constriction ring (HP:0009775)1.83684663
123Flat capital femoral epiphysis (HP:0003370)1.82844772
124Stenosis of the external auditory canal (HP:0000402)1.82704104
125Median cleft lip (HP:0000161)1.80714373
126Bronchitis (HP:0012387)1.80006296
127Nausea (HP:0002018)1.78691071
128Methylmalonic aciduria (HP:0012120)1.76681950
129Myelodysplasia (HP:0002863)1.76150284
130Abnormality of serum amino acid levels (HP:0003112)1.75515500
131Optic disc pallor (HP:0000543)1.72970660
132Small intestinal stenosis (HP:0012848)1.72144036
133Duodenal stenosis (HP:0100867)1.72144036
134CNS demyelination (HP:0007305)1.69173417

Predicted kinase interactions (KEA)

RankGene SetZ-score
1WEE14.02893031
2BUB14.02488290
3VRK23.74667965
4PLK43.56474383
5EIF2AK13.49538652
6STK163.46490148
7NME22.81656269
8EIF2AK32.68309451
9SRPK12.65199163
10CDC72.49530765
11BRSK22.16619569
12VRK12.13983179
13PBK2.01172601
14ACVR1B1.87673914
15MST41.83745517
16MAP3K121.83664438
17TTK1.77206894
18TSSK61.77106857
19ZAK1.70416814
20PIM21.69643610
21PLK11.61459717
22MKNK11.61029454
23NME11.60354647
24MAP3K31.55922744
25TLK11.50916824
26TXK1.44500209
27STK38L1.44366906
28BRAF1.42866105
29DYRK31.42090260
30AURKB1.39353520
31PLK31.39245997
32TESK21.30206237
33AURKA1.28421277
34NEK21.27435592
35BCKDK1.26985430
36SCYL21.23001133
37NEK11.17260091
38CDK71.16047306
39MKNK21.15415667
40RPS6KB21.14244543
41CHEK21.12860192
42TESK11.12293849
43EPHA21.11026061
44TRIM281.09397953
45LIMK11.06052063
46BCR1.05545558
47PDK41.04686436
48PDK31.04686436
49CDK81.03634742
50TAF10.98474374
51ATR0.98048984
52CDK190.97783894
53STK240.97551807
54ARAF0.87347040
55BRSK10.87282414
56BMPR20.86948755
57CCNB10.86386019
58PDK20.85559849
59AKT30.85184916
60DYRK20.85002384
61TEC0.84316444
62IRAK30.83500294
63PNCK0.82708959
64IRAK40.81976469
65EIF2AK20.80967465
66MYLK0.77374350
67CSNK2A10.76716925
68RIPK40.72043920
69RPS6KA40.70576656
70CHEK10.70143850
71CSNK2A20.68585022
72NUAK10.67901223
73MAP3K80.66995574
74KDR0.66689505
75ADRBK20.63060066
76PRKCI0.62448619
77STK40.61047761
78STK390.59694870
79ILK0.58624887
80PAK10.57945693
81ATM0.57307690
82BMPR1B0.56862059
83PASK0.56339707
84MELK0.54799334
85RPS6KA50.54518702
86OBSCN0.54236204
87CSNK1G30.54105860
88CDK30.52989569
89PIK3CG0.52371827
90NEK90.51662731
91STK30.50112275
92ABL20.49630414
93CDK40.48809218
94MAPKAPK50.45232875
95GRK60.45169143
96DAPK10.44781605
97BTK0.44389772
98CSNK1G10.43934814
99MAPKAPK30.43647324
100MAP3K60.43608825
101PAK40.42293213
102MUSK0.42064426
103RAF10.41626886
104CDK20.39572381
105CDK10.38065440
106PLK20.36612981
107PIM10.36511266
108IKBKB0.36288762
109TNIK0.35792225
110STK100.34504058
111NLK0.34383190
112OXSR10.33672797
113WNK30.32309524
114NEK60.31401911
115ERBB30.31054491
116TAOK30.29363076
117MAP3K110.28717060
118CSNK1A1L0.28421235
119ERBB40.28073769
120LRRK20.27837103
121MAPK150.27827549
122ALK0.26685315
123MAP4K10.26625074
124GRK10.25261941
125MARK30.23711536
126LYN0.22344709
127JAK30.21727876
128MATK0.19224751

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030504.38370741
2Ribosome_Homo sapiens_hsa030104.01879818
3RNA polymerase_Homo sapiens_hsa030203.66006482
4DNA replication_Homo sapiens_hsa030303.54022377
5Mismatch repair_Homo sapiens_hsa034303.14706396
6Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.11180326
7Protein export_Homo sapiens_hsa030602.83621240
8Pyrimidine metabolism_Homo sapiens_hsa002402.57728023
9Homologous recombination_Homo sapiens_hsa034402.54018759
10Spliceosome_Homo sapiens_hsa030402.35510941
11RNA transport_Homo sapiens_hsa030132.34834519
12Nucleotide excision repair_Homo sapiens_hsa034202.32643487
13Oxidative phosphorylation_Homo sapiens_hsa001902.27245473
14Basal transcription factors_Homo sapiens_hsa030222.22027876
15Parkinsons disease_Homo sapiens_hsa050122.11538018
16Base excision repair_Homo sapiens_hsa034102.03454414
17Cell cycle_Homo sapiens_hsa041101.93206984
18Huntingtons disease_Homo sapiens_hsa050161.82152749
19Fanconi anemia pathway_Homo sapiens_hsa034601.80356983
20RNA degradation_Homo sapiens_hsa030181.68638024
21One carbon pool by folate_Homo sapiens_hsa006701.64574122
22Non-homologous end-joining_Homo sapiens_hsa034501.60679503
23Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.55075617
24Purine metabolism_Homo sapiens_hsa002301.52723439
25Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.48375125
26Folate biosynthesis_Homo sapiens_hsa007901.47987577
27Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.47561941
28Glutathione metabolism_Homo sapiens_hsa004801.34453256
29Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.22316135
30Alzheimers disease_Homo sapiens_hsa050101.20778213
31Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.19558072
32Cysteine and methionine metabolism_Homo sapiens_hsa002701.18641283
33Vitamin B6 metabolism_Homo sapiens_hsa007501.18101961
34Drug metabolism - other enzymes_Homo sapiens_hsa009831.16345386
35Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.08204327
36Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.05343498
37p53 signaling pathway_Homo sapiens_hsa041151.01812595
38Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.01730983
39Arachidonic acid metabolism_Homo sapiens_hsa005900.94368713
40Steroid biosynthesis_Homo sapiens_hsa001000.92784567
41Fatty acid elongation_Homo sapiens_hsa000620.91999278
42Pentose phosphate pathway_Homo sapiens_hsa000300.91702133
43Sulfur metabolism_Homo sapiens_hsa009200.89178217
44Epstein-Barr virus infection_Homo sapiens_hsa051690.89064620
45Linoleic acid metabolism_Homo sapiens_hsa005910.88191556
46mRNA surveillance pathway_Homo sapiens_hsa030150.85844959
47Selenocompound metabolism_Homo sapiens_hsa004500.84665058
48Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.82901801
49Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.81652922
50Metabolic pathways_Homo sapiens_hsa011000.76413945
51Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.76158055
52Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.74990224
53Pyruvate metabolism_Homo sapiens_hsa006200.70371636
54Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.69531424
55Cyanoamino acid metabolism_Homo sapiens_hsa004600.68944525
56Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.65300220
57Pentose and glucuronate interconversions_Homo sapiens_hsa000400.62208333
58alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.61717445
59Retinol metabolism_Homo sapiens_hsa008300.60299674
60Sulfur relay system_Homo sapiens_hsa041220.60014077
61SNARE interactions in vesicular transport_Homo sapiens_hsa041300.59985157
62Asthma_Homo sapiens_hsa053100.58984316
63Carbon metabolism_Homo sapiens_hsa012000.56949399
64Biosynthesis of amino acids_Homo sapiens_hsa012300.54174085
65Sphingolipid metabolism_Homo sapiens_hsa006000.53934352
66Arginine and proline metabolism_Homo sapiens_hsa003300.53928964
67Propanoate metabolism_Homo sapiens_hsa006400.53644999
68Systemic lupus erythematosus_Homo sapiens_hsa053220.51745335
69Peroxisome_Homo sapiens_hsa041460.51624044
70Chemical carcinogenesis_Homo sapiens_hsa052040.51499014
71Histidine metabolism_Homo sapiens_hsa003400.50859070
72Allograft rejection_Homo sapiens_hsa053300.50682565
73Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.49981246
74Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.48827261
75Oocyte meiosis_Homo sapiens_hsa041140.47877751
76Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.46046436
77Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.45114670
78Tyrosine metabolism_Homo sapiens_hsa003500.44321281
79Vitamin digestion and absorption_Homo sapiens_hsa049770.43397447
80Autoimmune thyroid disease_Homo sapiens_hsa053200.43153321
81Primary immunodeficiency_Homo sapiens_hsa053400.42101932
82Caffeine metabolism_Homo sapiens_hsa002320.42063734
83Steroid hormone biosynthesis_Homo sapiens_hsa001400.41548366
84Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.40949700
852-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.40258677
86Ether lipid metabolism_Homo sapiens_hsa005650.38907232
87Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.38080574
88Cardiac muscle contraction_Homo sapiens_hsa042600.37120588
89Fatty acid degradation_Homo sapiens_hsa000710.37108472
90Maturity onset diabetes of the young_Homo sapiens_hsa049500.35996380
91Graft-versus-host disease_Homo sapiens_hsa053320.35783221
92Regulation of autophagy_Homo sapiens_hsa041400.32708838
93Collecting duct acid secretion_Homo sapiens_hsa049660.31775714
94Herpes simplex infection_Homo sapiens_hsa051680.30663990
95Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.30461915
96Fructose and mannose metabolism_Homo sapiens_hsa000510.29858521
97Galactose metabolism_Homo sapiens_hsa000520.29293189
98Hematopoietic cell lineage_Homo sapiens_hsa046400.28541744
99Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.28234034
100Intestinal immune network for IgA production_Homo sapiens_hsa046720.28152099
101beta-Alanine metabolism_Homo sapiens_hsa004100.27222782
102TGF-beta signaling pathway_Homo sapiens_hsa043500.27095668
103Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.26379842
104Phenylalanine metabolism_Homo sapiens_hsa003600.25516156
105Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.24354095
106Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.23958902
107Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.22278746
108N-Glycan biosynthesis_Homo sapiens_hsa005100.21606063
109Nitrogen metabolism_Homo sapiens_hsa009100.19655315
110Viral carcinogenesis_Homo sapiens_hsa052030.19536522
111Antigen processing and presentation_Homo sapiens_hsa046120.19484936
112Fatty acid metabolism_Homo sapiens_hsa012120.19285031
113Legionellosis_Homo sapiens_hsa051340.18876354
114Fat digestion and absorption_Homo sapiens_hsa049750.18761065
115Thyroid cancer_Homo sapiens_hsa052160.17911898

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