CDC45

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 was identified by its strong similarity with Saccharomyces cerevisiae Cdc45, an essential protein required to the initiation of DNA replication. Cdc45 is a member of the highly conserved multiprotein complex including Cdc6/Cdc18, the minichromosome maintenance proteins (MCMs) and DNA polymerase, which is important for early steps of DNA replication in eukaryotes. This protein has been shown to interact with MCM7 and DNA polymerase alpha. Studies of the similar gene in Xenopus suggested that this protein play a pivotal role in the loading of DNA polymerase alpha onto chromatin. Alternate splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* DNA strand elongation involved in DNA replication (GO:0006271)5.55592845
2DNA unwinding involved in DNA replication (GO:0006268)5.46860843
3* DNA replication initiation (GO:0006270)5.29562436
4telomere maintenance via semi-conservative replication (GO:0032201)5.28780809
5* DNA strand elongation (GO:0022616)5.27529432
6protein localization to kinetochore (GO:0034501)5.25315293
7* DNA replication checkpoint (GO:0000076)4.83539744
8telomere maintenance via recombination (GO:0000722)4.83329568
9mitotic metaphase plate congression (GO:0007080)4.74496550
10mitotic recombination (GO:0006312)4.69430103
11protein localization to chromosome, centromeric region (GO:0071459)4.50495779
12nucleobase biosynthetic process (GO:0046112)4.42148626
13mitotic chromosome condensation (GO:0007076)4.41128423
14CENP-A containing nucleosome assembly (GO:0034080)4.39017208
15chromatin remodeling at centromere (GO:0031055)4.32914002
16DNA replication-dependent nucleosome assembly (GO:0006335)4.29708642
17DNA replication-dependent nucleosome organization (GO:0034723)4.29708642
18* regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)4.27107577
19telomere maintenance via telomere lengthening (GO:0010833)4.17079434
20purine nucleobase biosynthetic process (GO:0009113)4.17016955
21mitotic nuclear envelope disassembly (GO:0007077)4.15306670
22kinetochore organization (GO:0051383)4.13817611
23metaphase plate congression (GO:0051310)4.13614740
24attachment of spindle microtubules to kinetochore (GO:0008608)4.13355408
25DNA replication-independent nucleosome organization (GO:0034724)4.08554245
26DNA replication-independent nucleosome assembly (GO:0006336)4.08554245
27regulation of translational fidelity (GO:0006450)4.07871112
28nucleotide-excision repair, DNA gap filling (GO:0006297)4.07601748
29mitotic sister chromatid segregation (GO:0000070)4.07037489
30DNA topological change (GO:0006265)4.05224361
31nuclear pore organization (GO:0006999)3.89378547
32membrane disassembly (GO:0030397)3.84242384
33nuclear envelope disassembly (GO:0051081)3.84242384
34IMP biosynthetic process (GO:0006188)3.81963519
35formation of translation preinitiation complex (GO:0001731)3.79744641
36sister chromatid segregation (GO:0000819)3.77765109
37regulation of spindle organization (GO:0090224)3.75881481
38establishment of integrated proviral latency (GO:0075713)3.75613942
39nuclear pore complex assembly (GO:0051292)3.74699440
40regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.73637384
41histone exchange (GO:0043486)3.71936246
42establishment of chromosome localization (GO:0051303)3.71700332
43kinetochore assembly (GO:0051382)3.64773556
44folic acid-containing compound biosynthetic process (GO:0009396)3.59941953
45meiotic chromosome segregation (GO:0045132)3.58036193
46regulation of double-strand break repair via homologous recombination (GO:0010569)3.56732268
47maturation of SSU-rRNA (GO:0030490)3.55528086
48DNA synthesis involved in DNA repair (GO:0000731)3.55367678
49ribosomal small subunit biogenesis (GO:0042274)3.54975615
50positive regulation of chromosome segregation (GO:0051984)3.46514290
51IMP metabolic process (GO:0046040)3.45763844
52DNA duplex unwinding (GO:0032508)3.43352540
53DNA geometric change (GO:0032392)3.43297709
54ribosomal small subunit assembly (GO:0000028)3.37905449
55somatic hypermutation of immunoglobulin genes (GO:0016446)3.37120064
56somatic diversification of immune receptors via somatic mutation (GO:0002566)3.37120064
57proteasome assembly (GO:0043248)3.36347548
58chromatin assembly or disassembly (GO:0006333)3.35901504
59regulation of chromosome segregation (GO:0051983)3.35884028
60ribosome biogenesis (GO:0042254)3.33422875
61spindle checkpoint (GO:0031577)3.33368548
62nucleobase-containing small molecule interconversion (GO:0015949)3.33158328
63DNA ligation (GO:0006266)3.32785370
64regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450913.31427496
65protein localization to chromosome (GO:0034502)3.30837969
66ribosome assembly (GO:0042255)3.30752022
67DNA packaging (GO:0006323)3.30420842
68telomere organization (GO:0032200)3.29057053
69negative regulation of mRNA splicing, via spliceosome (GO:0048025)3.28989392
70protein K6-linked ubiquitination (GO:0085020)3.28942690
71telomere maintenance (GO:0000723)3.28527383
72anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.28368121
73negative regulation of chromosome segregation (GO:0051985)3.27599691
74translesion synthesis (GO:0019985)3.25469450
75ribosomal large subunit biogenesis (GO:0042273)3.24425781
76mitotic sister chromatid cohesion (GO:0007064)3.24192264
77regulation of centrosome cycle (GO:0046605)3.24043270
78chromosome segregation (GO:0007059)3.23785822
79negative regulation of mitotic metaphase/anaphase transition (GO:0045841)3.23550454
80negative regulation of sister chromatid segregation (GO:0033046)3.23550454
81negative regulation of mitotic sister chromatid separation (GO:2000816)3.23550454
82negative regulation of mitotic sister chromatid segregation (GO:0033048)3.23550454
83DNA deamination (GO:0045006)3.23352524
84maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)3.23281853
85regulation of mitotic metaphase/anaphase transition (GO:0030071)3.19777530
86deoxyribonucleotide biosynthetic process (GO:0009263)3.19641981
87spindle assembly checkpoint (GO:0071173)3.18823666
88negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.18135340
89mismatch repair (GO:0006298)3.17391276
90negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)3.15984067
91viral mRNA export from host cell nucleus (GO:0046784)3.15402825
92regulation of metaphase/anaphase transition of cell cycle (GO:1902099)3.14016525
93mitotic spindle assembly checkpoint (GO:0007094)3.13262910
94regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.12611259
95deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.12159448
96* G1/S transition of mitotic cell cycle (GO:0000082)3.11416183
97* cell cycle G1/S phase transition (GO:0044843)3.11416183
98tRNA aminoacylation for protein translation (GO:0006418)3.10847767
99transcription-coupled nucleotide-excision repair (GO:0006283)3.10628603
100DNA conformation change (GO:0071103)3.10283395
101tetrahydrofolate metabolic process (GO:0046653)3.10226193
102regulation of centriole replication (GO:0046599)3.10213395
103regulation of nuclear cell cycle DNA replication (GO:0033262)3.08797188
104mitotic spindle checkpoint (GO:0071174)3.07445520
105double-strand break repair via nonhomologous end joining (GO:0006303)3.06259177
106non-recombinational repair (GO:0000726)3.06259177
107spliceosomal snRNP assembly (GO:0000387)3.06138198
108chromosome condensation (GO:0030261)3.06135236
109ATP-dependent chromatin remodeling (GO:0043044)3.05701443
110* mitotic cell cycle (GO:0000278)3.04874398
111nuclear envelope organization (GO:0006998)3.04026649
112ribonucleoprotein complex biogenesis (GO:0022613)3.03778906
113postreplication repair (GO:0006301)3.03366200
114base-excision repair (GO:0006284)3.03308882
115tRNA aminoacylation (GO:0043039)3.03078115
116amino acid activation (GO:0043038)3.03078115
117negative regulation of mRNA processing (GO:0050686)3.00130686
118regulation of sister chromatid segregation (GO:0033045)2.99696814
119regulation of mitotic sister chromatid separation (GO:0010965)2.99696814
120regulation of mitotic sister chromatid segregation (GO:0033047)2.99696814
121pore complex assembly (GO:0046931)2.99149891
122* DNA replication (GO:0006260)2.97898605
123regulation of sister chromatid cohesion (GO:0007063)2.97663806
124regulation of mitotic spindle organization (GO:0060236)2.97167102

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXM1_23109430_ChIP-Seq_U2OS_Human4.80008739
2E2F4_17652178_ChIP-ChIP_JURKAT_Human4.14747125
3MYC_18555785_ChIP-Seq_MESCs_Mouse3.90352028
4EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.50765332
5FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human3.45810069
6KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.97832968
7MYC_19079543_ChIP-ChIP_MESCs_Mouse2.74048824
8EST1_17652178_ChIP-ChIP_JURKAT_Human2.65642191
9MYC_19030024_ChIP-ChIP_MESCs_Mouse2.64202482
10MYC_18358816_ChIP-ChIP_MESCs_Mouse2.61529131
11CREB1_15753290_ChIP-ChIP_HEK293T_Human2.55891138
12AR_21909140_ChIP-Seq_LNCAP_Human2.53893366
13GABP_17652178_ChIP-ChIP_JURKAT_Human2.47419147
14ETS1_20019798_ChIP-Seq_JURKAT_Human2.47146049
15JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.44614730
16MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.33476483
17E2F1_21310950_ChIP-Seq_MCF-7_Human2.30772557
18NELFA_20434984_ChIP-Seq_ESCs_Mouse2.29459025
19HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.19618426
20XRN2_22483619_ChIP-Seq_HELA_Human2.18455371
21* VDR_23849224_ChIP-Seq_CD4+_Human2.04727827
22CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.00643392
23E2F7_22180533_ChIP-Seq_HELA_Human10.5712737
24EGR1_19374776_ChIP-ChIP_THP-1_Human1.96613939
25MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.90197093
26NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.85959886
27E2F1_18555785_ChIP-Seq_MESCs_Mouse1.83607935
28* FOXP3_21729870_ChIP-Seq_TREG_Human1.82693061
29DCP1A_22483619_ChIP-Seq_HELA_Human1.82009969
30MYCN_18555785_ChIP-Seq_MESCs_Mouse1.80826465
31E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.80467502
32* KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.78946017
33GABP_19822575_ChIP-Seq_HepG2_Human1.75356734
34ELF1_17652178_ChIP-ChIP_JURKAT_Human1.72596742
35PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.69230815
36MYC_22102868_ChIP-Seq_BL_Human1.68610283
37SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.67896169
38POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.67531666
39* TTF2_22483619_ChIP-Seq_HELA_Human1.66324715
40NANOG_18555785_ChIP-Seq_MESCs_Mouse1.66082237
41MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.64540375
42THAP11_20581084_ChIP-Seq_MESCs_Mouse1.61074025
43* CIITA_25753668_ChIP-Seq_RAJI_Human1.53318805
44HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.49602801
45SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.49344795
46ZFX_18555785_ChIP-Seq_MESCs_Mouse1.47420199
47FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.46288527
48ELK1_19687146_ChIP-ChIP_HELA_Human1.46200678
49TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.45976079
50HOXB4_20404135_ChIP-ChIP_EML_Mouse1.42811344
51* YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.42721826
52KDM5A_27292631_Chip-Seq_BREAST_Human1.41474398
53YY1_21170310_ChIP-Seq_MESCs_Mouse1.35718773
54CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.35323779
55ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.27455586
56SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.26992103
57ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.24981751
58CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.24835123
59ZNF263_19887448_ChIP-Seq_K562_Human1.24643211
60PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.24224119
61E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.23778431
62SRF_21415370_ChIP-Seq_HL-1_Mouse1.22818802
63ERG_20887958_ChIP-Seq_HPC-7_Mouse1.21152315
64KLF4_18555785_ChIP-Seq_MESCs_Mouse1.19767495
65TP63_19390658_ChIP-ChIP_HaCaT_Human1.19028276
66ESR1_15608294_ChIP-ChIP_MCF-7_Human1.17598066
67VDR_21846776_ChIP-Seq_THP-1_Human1.13550850
68PADI4_21655091_ChIP-ChIP_MCF-7_Human1.13056612
69STAT3_1855785_ChIP-Seq_MESCs_Mouse1.12341953
70FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.11772987
71DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.09419434
72TFEB_21752829_ChIP-Seq_HELA_Human1.06428122
73POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.05903653
74SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.05262347
75POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.05186100
76CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.02308689
77* NCOR1_26117541_ChIP-Seq_K562_Human1.01685416
78SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.01451100
79CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.99510416
80CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.98992317
81SOX2_18555785_ChIP-Seq_MESCs_Mouse0.97016870
82PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.96280140
83CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.94517990
84SPI1_23547873_ChIP-Seq_NB4_Human0.91186257
85PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.89722014
86CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.89372876
87KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.89085412
88KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.88660409
89MYC_18940864_ChIP-ChIP_HL60_Human0.87364556
90GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.87329202
91NANOG_21062744_ChIP-ChIP_HESCs_Human0.86524987
92SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.86450116
93TBX5_21415370_ChIP-Seq_HL-1_Mouse0.85943587
94ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.85480773
95BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.84301836
96NOTCH1_21737748_ChIP-Seq_TLL_Human0.84014611
97CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.82946823
98DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.81963834
99CHD1_26751641_Chip-Seq_LNCaP_Human0.78707465
100RBPJ_22232070_ChIP-Seq_NCS_Mouse0.78452076
101SOX17_20123909_ChIP-Seq_XEN_Mouse0.77927421
102TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.74987235
103CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.73444880
104TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.73150308
105HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.72938008
106HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.71932968
107HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.69765498
108SALL1_21062744_ChIP-ChIP_HESCs_Human0.68571308
109ELK1_22589737_ChIP-Seq_MCF10A_Human0.68492928
110MYB_21317192_ChIP-Seq_ERMYB_Mouse0.67334629
111SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.66448349
112GATA1_22383799_ChIP-Seq_G1ME_Mouse0.65175491
113FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.65066079
114MYB_26560356_Chip-Seq_TH1_Human0.64108737

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching5.73331831
2MP0010094_abnormal_chromosome_stability5.35446079
3MP0003111_abnormal_nucleus_morphology4.87339878
4MP0008057_abnormal_DNA_replication4.73570337
5MP0004957_abnormal_blastocyst_morpholog4.42791715
6MP0003077_abnormal_cell_cycle4.29591154
7MP0008058_abnormal_DNA_repair3.53600964
8MP0008007_abnormal_cellular_replicative2.82130003
9MP0009697_abnormal_copulation2.63945023
10MP0002396_abnormal_hematopoietic_system2.62403845
11MP0003123_paternal_imprinting2.58528038
12* MP0008932_abnormal_embryonic_tissue2.54547447
13MP0008877_abnormal_DNA_methylation2.49728987
14MP0001730_embryonic_growth_arrest2.46549620
15MP0000350_abnormal_cell_proliferation2.34068996
16MP0010307_abnormal_tumor_latency2.32693159
17MP0010352_gastrointestinal_tract_polyps2.05592834
18MP0003786_premature_aging1.97564364
19MP0000490_abnormal_crypts_of1.85675255
20MP0001672_abnormal_embryogenesis/_devel1.80833477
21MP0005380_embryogenesis_phenotype1.80833477
22MP0001697_abnormal_embryo_size1.76044283
23MP0000678_abnormal_parathyroid_gland1.68338509
24MP0004808_abnormal_hematopoietic_stem1.67113808
25MP0003984_embryonic_growth_retardation1.64229241
26MP0003718_maternal_effect1.64176316
27* MP0002080_prenatal_lethality1.61592810
28MP0002088_abnormal_embryonic_growth/wei1.60202643
29MP0006035_abnormal_mitochondrial_morpho1.59695085
30MP0002019_abnormal_tumor_incidence1.57289943
31MP0002877_abnormal_melanocyte_morpholog1.52318176
32MP0000313_abnormal_cell_death1.51791072
33MP0002085_abnormal_embryonic_tissue1.48830037
34MP0009333_abnormal_splenocyte_physiolog1.47431855
35MP0005397_hematopoietic_system_phenotyp1.44930597
36MP0001545_abnormal_hematopoietic_system1.44930597
37MP0002086_abnormal_extraembryonic_tissu1.39063452
38MP0002210_abnormal_sex_determination1.36638460
39MP0002084_abnormal_developmental_patter1.32940063
40MP0003121_genomic_imprinting1.32493197
41MP0004197_abnormal_fetal_growth/weight/1.31659457
42MP0004233_abnormal_muscle_weight1.31458190
43MP0003567_abnormal_fetal_cardiomyocyte1.28875832
44MP0005076_abnormal_cell_differentiation1.26555990
45MP0001661_extended_life_span1.21149006
46MP0001145_abnormal_male_reproductive1.19483120
47MP0006054_spinal_hemorrhage1.17153528
48MP0002398_abnormal_bone_marrow1.15842776
49MP0000703_abnormal_thymus_morphology1.15705625
50MP0003763_abnormal_thymus_physiology1.14827808
51MP0001929_abnormal_gametogenesis1.13647447
52MP0005451_abnormal_body_composition1.11085762
53MP0002722_abnormal_immune_system1.09599365
54MP0000689_abnormal_spleen_morphology1.04635848
55MP0003941_abnormal_skin_development1.03759615
56MP0004185_abnormal_adipocyte_glucose1.03562789
57MP0000653_abnormal_sex_gland1.03544634
58MP0003315_abnormal_perineum_morphology1.01496641
59MP0003806_abnormal_nucleotide_metabolis0.93936308
60MP0001119_abnormal_female_reproductive0.90655015
61MP0002429_abnormal_blood_cell0.89869232
62MP0003221_abnormal_cardiomyocyte_apopto0.89754249
63MP0009278_abnormal_bone_marrow0.89514880
64MP0003890_abnormal_embryonic-extraembry0.89151114
65MP0009672_abnormal_birth_weight0.88544197
66MP0005501_abnormal_skin_physiology0.86627236
67MP0001727_abnormal_embryo_implantation0.86519281
68MP0000358_abnormal_cell_content/0.85695187
69MP0005384_cellular_phenotype0.85311742
70MP0001293_anophthalmia0.85289998
71MP0001881_abnormal_mammary_gland0.84956182
72MP0002160_abnormal_reproductive_system0.84881701
73MP0005621_abnormal_cell_physiology0.82462545
74MP0001346_abnormal_lacrimal_gland0.81304332
75MP0000372_irregular_coat_pigmentation0.79349536
76MP0010030_abnormal_orbit_morphology0.76225832
77MP0000858_altered_metastatic_potential0.75449953
78MP0001915_intracranial_hemorrhage0.74779126
79MP0000716_abnormal_immune_system0.74047977
80MP0002938_white_spotting0.72242597
81MP0002249_abnormal_larynx_morphology0.71734934
82MP0005408_hypopigmentation0.68895283
83MP0003385_abnormal_body_wall0.68119174
84MP0002269_muscular_atrophy0.67882453
85MP0005023_abnormal_wound_healing0.67863468
86MP0009703_decreased_birth_body0.67050533
87MP0002163_abnormal_gland_morphology0.66264559
88MP0005389_reproductive_system_phenotype0.66167036
89MP0003119_abnormal_digestive_system0.65621740
90MP0006292_abnormal_olfactory_placode0.65090193
91MP0003656_abnormal_erythrocyte_physiolo0.64068970
92MP0002111_abnormal_tail_morphology0.64047010
93MP0003950_abnormal_plasma_membrane0.63604457
94MP0002234_abnormal_pharynx_morphology0.63416377
95MP0003186_abnormal_redox_activity0.63003743
96MP0000477_abnormal_intestine_morphology0.61638655
97MP0005083_abnormal_biliary_tract0.61371326
98MP0002697_abnormal_eye_size0.61260070
99MP0000465_gastrointestinal_hemorrhage0.60093914
100MP0005171_absent_coat_pigmentation0.59873845
101MP0003699_abnormal_female_reproductive0.59646972
102MP0001529_abnormal_vocalization0.59387495
103MP0002132_abnormal_respiratory_system0.58644877
104MP0002970_abnormal_white_adipose0.58592507
105MP0001286_abnormal_eye_development0.58264269
106MP0004147_increased_porphyrin_level0.57822713
107MP0009379_abnormal_foot_pigmentation0.57100783
108MP0000428_abnormal_craniofacial_morphol0.56729040
109MP0003937_abnormal_limbs/digits/tail_de0.55623269
110MP0001853_heart_inflammation0.55283828
111MP0001800_abnormal_humoral_immune0.54888063
112MP0002095_abnormal_skin_pigmentation0.53901124
113MP0002161_abnormal_fertility/fecundity0.53735673
114MP0001764_abnormal_homeostasis0.53400535
115MP0005075_abnormal_melanosome_morpholog0.53369743
116MP0002420_abnormal_adaptive_immunity0.53272045
117MP0000537_abnormal_urethra_morphology0.52957501
118MP0003698_abnormal_male_reproductive0.52513415
119MP0001819_abnormal_immune_cell0.51945399
120MP0003942_abnormal_urinary_system0.51571186
121MP0006036_abnormal_mitochondrial_physio0.51428957
122MP0002405_respiratory_system_inflammati0.50989387
123MP0009053_abnormal_anal_canal0.50052094
124MP0003566_abnormal_cell_adhesion0.49459874
125MP0002092_abnormal_eye_morphology0.48537287
126MP0001835_abnormal_antigen_presentation0.48502320
127MP0002452_abnormal_antigen_presenting0.48128681
128MP0004264_abnormal_extraembryonic_tissu0.47868289
129MP0003705_abnormal_hypodermis_morpholog0.47733408
130MP0008995_early_reproductive_senescence0.47246946
131MP0003448_altered_tumor_morphology0.46974835

Predicted human phenotypes

RankGene SetZ-score
1Birth length less than 3rd percentile (HP:0003561)6.15426746
2Chromsome breakage (HP:0040012)4.47679083
3Chromosomal breakage induced by crosslinking agents (HP:0003221)4.28687176
4Breast hypoplasia (HP:0003187)4.23280006
5Abnormality of chromosome stability (HP:0003220)3.86088576
6Cholecystitis (HP:0001082)3.86050903
7Abnormal gallbladder physiology (HP:0012438)3.86050903
8Reticulocytopenia (HP:0001896)3.78682540
9Patellar aplasia (HP:0006443)3.73649260
10Meckel diverticulum (HP:0002245)3.66036839
11Abnormality of the preputium (HP:0100587)3.57988385
12Abnormality of the ileum (HP:0001549)3.51715965
13Aplasia/Hypoplasia of the patella (HP:0006498)3.49170820
14Abnormality of glycolysis (HP:0004366)3.46693507
15Oral leukoplakia (HP:0002745)3.42647720
16Aplasia/Hypoplasia of the uvula (HP:0010293)3.36344867
17Selective tooth agenesis (HP:0001592)3.35301655
18Truncus arteriosus (HP:0001660)3.34980922
19Abnormality of cells of the erythroid lineage (HP:0012130)3.34414861
20Abnormal number of erythroid precursors (HP:0012131)3.33745425
21Degeneration of anterior horn cells (HP:0002398)3.31969328
22Abnormality of the anterior horn cell (HP:0006802)3.31969328
23Microvesicular hepatic steatosis (HP:0001414)3.30858334
24Impulsivity (HP:0100710)3.23835564
25Increased serum pyruvate (HP:0003542)3.19962971
26Colon cancer (HP:0003003)3.17436124
27Carpal bone hypoplasia (HP:0001498)3.13442875
28Abnormality of reticulocytes (HP:0004312)3.08536922
29Abnormality of cochlea (HP:0000375)3.06465170
30Duodenal stenosis (HP:0100867)3.04133311
31Small intestinal stenosis (HP:0012848)3.04133311
32Myelodysplasia (HP:0002863)3.00915417
33Ependymoma (HP:0002888)3.00831868
34Medulloblastoma (HP:0002885)2.98261947
35Rough bone trabeculation (HP:0100670)2.95771022
36Aplasia/Hypoplasia of the sacrum (HP:0008517)2.91660617
37Absent thumb (HP:0009777)2.77351121
38Bone marrow hypocellularity (HP:0005528)2.76536509
39Hyperthyroidism (HP:0000836)2.76150250
40Hypoplasia of the capital femoral epiphysis (HP:0003090)2.74786091
41Agnosia (HP:0010524)2.71861395
42Microretrognathia (HP:0000308)2.65504689
43Absent radius (HP:0003974)2.65088465
44Cortical dysplasia (HP:0002539)2.64031224
45Reticulocytosis (HP:0001923)2.60255334
46Progressive muscle weakness (HP:0003323)2.58442560
47Aplastic anemia (HP:0001915)2.56196464
48Ectopic kidney (HP:0000086)2.53990198
49Sloping forehead (HP:0000340)2.49642988
50Absent forearm bone (HP:0003953)2.45080810
51Aplasia involving forearm bones (HP:0009822)2.45080810
52Neoplasm of the pancreas (HP:0002894)2.44553305
53Thrombocytosis (HP:0001894)2.43879388
54Abnormality of the duodenum (HP:0002246)2.43538994
55Premature graying of hair (HP:0002216)2.43519027
56Abnormal mitochondria in muscle tissue (HP:0008316)2.42881440
57Rhabdomyosarcoma (HP:0002859)2.41802276
58Abnormality of the carotid arteries (HP:0005344)2.38975075
59Facial hemangioma (HP:0000329)2.35501008
60Abnormal number of incisors (HP:0011064)2.35456212
61Slender long bone (HP:0003100)2.34696774
6211 pairs of ribs (HP:0000878)2.33628286
63Abnormality of the labia minora (HP:0012880)2.33525841
64Squamous cell carcinoma (HP:0002860)2.33406725
65Increased nuchal translucency (HP:0010880)2.32658129
66Cafe-au-lait spot (HP:0000957)2.31958910
67Ankyloglossia (HP:0010296)2.30962077
68Tracheoesophageal fistula (HP:0002575)2.30730112
69Basal cell carcinoma (HP:0002671)2.30312567
70Duplicated collecting system (HP:0000081)2.25987521
71Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.25585033
72Acute necrotizing encephalopathy (HP:0006965)2.24480538
73Cerebral hypomyelination (HP:0006808)2.24442250
74Clubbing of toes (HP:0100760)2.23110717
75Morphological abnormality of the inner ear (HP:0011390)2.23053674
76Multiple enchondromatosis (HP:0005701)2.23020908
77Proximal placement of thumb (HP:0009623)2.21445966
78Hypoparathyroidism (HP:0000829)2.21088364
79Pallor (HP:0000980)2.21007744
80Cellular immunodeficiency (HP:0005374)2.20728939
81Hypertensive crisis (HP:0100735)2.20724625
82Atresia of the external auditory canal (HP:0000413)2.20550520
83Abnormal lung lobation (HP:0002101)2.20538223
84Macrocytic anemia (HP:0001972)2.20035658
85Horseshoe kidney (HP:0000085)2.19549604
86Aplasia/Hypoplasia of the earlobes (HP:0009906)2.19028297
87Acute encephalopathy (HP:0006846)2.18168777
88Overlapping toe (HP:0001845)2.17438657
89Prominent nose (HP:0000448)2.16523189
90High pitched voice (HP:0001620)2.16064791
91Seborrheic dermatitis (HP:0001051)2.15112191
92Deviation of the thumb (HP:0009603)2.14969577
93Homocystinuria (HP:0002156)2.14853235
94Abnormality of homocysteine metabolism (HP:0010919)2.14853235
95Abnormal trabecular bone morphology (HP:0100671)2.11307684
96Abnormal large intestine physiology (HP:0012700)2.10934934
97Triphalangeal thumb (HP:0001199)2.10667172
98Short thumb (HP:0009778)2.10304781
99Nephroblastoma (Wilms tumor) (HP:0002667)2.07322601
100Lymphoma (HP:0002665)2.05754880
101Ragged-red muscle fibers (HP:0003200)2.03494759
102Choanal atresia (HP:0000453)2.01403507
103Absent epiphyses (HP:0010577)2.01123012
104Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)2.01123012
105Bowel incontinence (HP:0002607)2.00794234
106Volvulus (HP:0002580)1.98505350
107Abnormality of the renal collecting system (HP:0004742)1.97485694
108Secondary amenorrhea (HP:0000869)1.94940857
109Cholelithiasis (HP:0001081)1.93401282
110Premature ovarian failure (HP:0008209)1.93019880
111Arteriovenous malformation (HP:0100026)1.92537385
112IgM deficiency (HP:0002850)1.92327237
113Supernumerary spleens (HP:0009799)1.92180537
114Embryonal renal neoplasm (HP:0011794)1.91566241
115Atrophy/Degeneration involving motor neurons (HP:0007373)1.91439133
116Ureteral duplication (HP:0000073)1.91104140
117Abnormality of the tricuspid valve (HP:0001702)1.90501682
118Orthostatic hypotension (HP:0001278)1.89815906
119Increased CSF lactate (HP:0002490)1.89430741
120Abnormality of DNA repair (HP:0003254)1.88945523
121Amaurosis fugax (HP:0100576)1.88446842
122Increased serum lactate (HP:0002151)1.86455950
123Septate vagina (HP:0001153)1.84948302
124Abnormality of the heme biosynthetic pathway (HP:0010472)1.83834149
125Progressive external ophthalmoplegia (HP:0000590)1.82847212
126Aplasia/Hypoplasia of the sternum (HP:0006714)1.82591396
127Astrocytoma (HP:0009592)1.82171014
128Abnormality of the astrocytes (HP:0100707)1.82171014
129Type I transferrin isoform profile (HP:0003642)1.82097939
130Short middle phalanx of the 5th finger (HP:0004220)1.81881033
131Insomnia (HP:0100785)1.81842319
132Abnormal spermatogenesis (HP:0008669)1.80706649
133Aplasia/Hypoplasia of the thymus (HP:0010515)1.80618461
134Glioma (HP:0009733)1.80256554
135Cerebral edema (HP:0002181)1.79922449
136Cleft eyelid (HP:0000625)1.79274586
137Neoplasm of the colon (HP:0100273)1.78796586
138Trismus (HP:0000211)1.77556849
139Pancytopenia (HP:0001876)1.77501281
140Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.77453492
141Decreased activity of mitochondrial respiratory chain (HP:0008972)1.77453492
142Entropion (HP:0000621)1.76961925
143Poikiloderma (HP:0001029)1.76705987
144Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)1.76391101
145Short 4th metacarpal (HP:0010044)1.76391101
146Hypoplastic pelvis (HP:0008839)1.76358602
147Upper limb muscle weakness (HP:0003484)1.74366878

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CDC75.08640821
2WEE14.92204277
3BUB14.36527632
4NEK23.28877577
5EIF2AK13.05240121
6BRSK22.59552226
7PBK2.59201355
8NEK12.55797002
9TTK2.55131141
10SRPK12.42197929
11ACVR1B2.38011270
12PLK12.26200095
13VRK22.24236042
14PLK42.13789207
15EIF2AK32.12728611
16TSSK61.95418029
17VRK11.93343417
18AURKB1.82895792
19BRSK11.81741975
20ATR1.80496398
21NME11.76280563
22CDK71.73575883
23CCNB11.72079082
24NME21.70367243
25PASK1.66621896
26CHEK21.64756787
27MKNK11.64728455
28PLK31.63719049
29TESK21.60668763
30SMG11.58126680
31DYRK31.56384106
32IRAK31.51749741
33MAP3K81.41968560
34RPS6KA41.41812198
35CDK41.41478650
36CDK121.38578040
37TLK11.33373719
38EEF2K1.32391916
39STK101.31195783
40CHEK11.29352584
41STK161.29216302
42AURKA1.24285595
43STK41.23640105
44RPS6KB21.22586018
45SCYL21.21529453
46PDK21.20226224
47KSR21.16096618
48MKNK21.14817558
49ZAK1.10475154
50TGFBR10.98565605
51PIM10.97793590
52MST40.96822289
53ICK0.95540898
54MAP3K100.93726465
55ATM0.90360692
56STK30.89797706
57MAP4K10.88849121
58CDK20.88009375
59PAK40.87130296
60CDK80.86722964
61CLK10.83647325
62EIF2AK20.81962739
63TRIB30.75484443
64MELK0.72494200
65LRRK20.68482207
66CDK10.68146206
67PAK10.63479548
68CSNK2A10.61368821
69CDK60.60121080
70CSNK2A20.57675909
71PKN20.57014177
72ALK0.55776284
73BRAF0.55487481
74FLT30.54833617
75DAPK10.54643518
76MST1R0.53964771
77PIM20.53186842
78MAP3K20.53179793
79CDK11A0.49118184
80MAP2K30.48962343
81BRD40.48741287
82CDK150.47022045
83TESK10.44913582
84KDR0.44770801
85CDK180.44678665
86BTK0.43783179
87MAPKAPK50.43632409
88ILK0.43086313
89CDK140.42080157
90EPHA20.41381516
91ARAF0.41174932
92RPS6KA50.40997073
93TEC0.40902265
94KSR10.40457995
95LATS20.39752461
96TAF10.39114336
97NEK90.37479804
98PNCK0.36977434
99STK38L0.36296791
100RAF10.34799889
101PRKCI0.34254500
102BCKDK0.34227786
103BMX0.33537498
104CDK90.33452483
105MTOR0.31758434
106PDK30.31447587
107PDK40.31447587
108TRIM280.31058753
109GRK60.30354749
110MAPKAPK30.29542071
111CSF1R0.29264848
112MAP3K110.29251400
113PRKDC0.28877171
114AKT20.26533059
115JAK30.24395786
116NUAK10.22929422
117MAPK110.22815125
118ZAP700.22347688
119GSK3B0.21865569
120ERBB40.21265468
121MAPK140.20830667
122STK240.18925254
123CSNK1E0.18730104
124PAK20.18499497
125KIT0.17559684
126LATS10.17108343
127LYN0.16912687
128AKT10.16396047
129RPS6KL10.15557923
130RPS6KC10.15557923

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030305.82365110
2Mismatch repair_Homo sapiens_hsa034304.70113738
3Base excision repair_Homo sapiens_hsa034103.47000665
4Homologous recombination_Homo sapiens_hsa034403.41908539
5Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.35183993
6* Cell cycle_Homo sapiens_hsa041103.19971726
7Spliceosome_Homo sapiens_hsa030403.09791850
8RNA transport_Homo sapiens_hsa030133.02523559
9Nucleotide excision repair_Homo sapiens_hsa034202.99810519
10RNA polymerase_Homo sapiens_hsa030202.81526913
11Proteasome_Homo sapiens_hsa030502.74360977
12Ribosome_Homo sapiens_hsa030102.65529556
13One carbon pool by folate_Homo sapiens_hsa006702.64260932
14Fanconi anemia pathway_Homo sapiens_hsa034602.52676169
15Pyrimidine metabolism_Homo sapiens_hsa002402.48102994
16Non-homologous end-joining_Homo sapiens_hsa034502.13746258
17Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.12902068
18Basal transcription factors_Homo sapiens_hsa030221.85095053
19RNA degradation_Homo sapiens_hsa030181.81913437
20p53 signaling pathway_Homo sapiens_hsa041151.80001147
21mRNA surveillance pathway_Homo sapiens_hsa030151.63337670
22Parkinsons disease_Homo sapiens_hsa050121.35687294
23Purine metabolism_Homo sapiens_hsa002301.31662665
24Pyruvate metabolism_Homo sapiens_hsa006201.30003744
25Systemic lupus erythematosus_Homo sapiens_hsa053221.23558899
26Oxidative phosphorylation_Homo sapiens_hsa001901.21065870
27Oocyte meiosis_Homo sapiens_hsa041141.17911978
28Vitamin B6 metabolism_Homo sapiens_hsa007501.17903423
29Epstein-Barr virus infection_Homo sapiens_hsa051691.15511557
30Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.11954984
31Pentose phosphate pathway_Homo sapiens_hsa000301.11339286
32Viral carcinogenesis_Homo sapiens_hsa052030.99958102
33Herpes simplex infection_Homo sapiens_hsa051680.98501162
34Antigen processing and presentation_Homo sapiens_hsa046120.95785187
35Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.89976907
36Fatty acid elongation_Homo sapiens_hsa000620.88760638
37Biosynthesis of amino acids_Homo sapiens_hsa012300.87975558
38Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.87630218
39Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.86709788
40Folate biosynthesis_Homo sapiens_hsa007900.81866897
41HTLV-I infection_Homo sapiens_hsa051660.79035653
42Steroid biosynthesis_Homo sapiens_hsa001000.76305929
43Cyanoamino acid metabolism_Homo sapiens_hsa004600.74035831
44Cysteine and methionine metabolism_Homo sapiens_hsa002700.73679753
45Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.73263247
46Drug metabolism - other enzymes_Homo sapiens_hsa009830.72852744
47Alzheimers disease_Homo sapiens_hsa050100.68494727
48Small cell lung cancer_Homo sapiens_hsa052220.66562825
49Selenocompound metabolism_Homo sapiens_hsa004500.65222569
50Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.63938051
51Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.63345753
52Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.63251875
53MicroRNAs in cancer_Homo sapiens_hsa052060.62325028
54Primary immunodeficiency_Homo sapiens_hsa053400.58763525
55Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.53559908
56Thyroid cancer_Homo sapiens_hsa052160.53137185
57Legionellosis_Homo sapiens_hsa051340.50579640
58Propanoate metabolism_Homo sapiens_hsa006400.48597379
59Carbon metabolism_Homo sapiens_hsa012000.48181057
60Transcriptional misregulation in cancer_Homo sapiens_hsa052020.47274482
61Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.45497160
62Glutathione metabolism_Homo sapiens_hsa004800.45074645
63Apoptosis_Homo sapiens_hsa042100.44580826
64Hepatitis B_Homo sapiens_hsa051610.44084189
65N-Glycan biosynthesis_Homo sapiens_hsa005100.42804822
66Measles_Homo sapiens_hsa051620.39465198
67Protein export_Homo sapiens_hsa030600.39432057
68Sulfur relay system_Homo sapiens_hsa041220.39360810
69Alcoholism_Homo sapiens_hsa050340.38596055
70Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.38429400
71Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.35680818
72Colorectal cancer_Homo sapiens_hsa052100.34616552
732-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.33357948
74Fatty acid metabolism_Homo sapiens_hsa012120.33239827
75Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.32433561
76Chronic myeloid leukemia_Homo sapiens_hsa052200.31068784
77Shigellosis_Homo sapiens_hsa051310.30953047
78Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.30218713
79HIF-1 signaling pathway_Homo sapiens_hsa040660.29319062
80TGF-beta signaling pathway_Homo sapiens_hsa043500.29032434
81Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.28610548
82Fructose and mannose metabolism_Homo sapiens_hsa000510.28278757
83Influenza A_Homo sapiens_hsa051640.27241969
84NF-kappa B signaling pathway_Homo sapiens_hsa040640.26647923
85Huntingtons disease_Homo sapiens_hsa050160.24782963
86Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.24654191
87Galactose metabolism_Homo sapiens_hsa000520.21961124
88Renin-angiotensin system_Homo sapiens_hsa046140.21009398
89Bladder cancer_Homo sapiens_hsa052190.20848426
90Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.20711128
91Intestinal immune network for IgA production_Homo sapiens_hsa046720.20503215
92mTOR signaling pathway_Homo sapiens_hsa041500.20400269
93Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.20054607
94Pancreatic cancer_Homo sapiens_hsa052120.19434877
95Arginine and proline metabolism_Homo sapiens_hsa003300.18907412
96Hematopoietic cell lineage_Homo sapiens_hsa046400.18893833
97Prostate cancer_Homo sapiens_hsa052150.18268845
98Notch signaling pathway_Homo sapiens_hsa043300.17641414
99Arginine biosynthesis_Homo sapiens_hsa002200.17422710
100Hippo signaling pathway_Homo sapiens_hsa043900.17414858
101Pathways in cancer_Homo sapiens_hsa052000.16749318
102Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.16423447
103Non-small cell lung cancer_Homo sapiens_hsa052230.16420727
104Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.16418215
105Central carbon metabolism in cancer_Homo sapiens_hsa052300.15533125
106Viral myocarditis_Homo sapiens_hsa054160.14860115
107Metabolic pathways_Homo sapiens_hsa011000.14262725
108Lysine degradation_Homo sapiens_hsa003100.14176531
109Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.13990762
110Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.13241120
111Acute myeloid leukemia_Homo sapiens_hsa052210.13070567
112Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.11670100
113Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.11605830
114NOD-like receptor signaling pathway_Homo sapiens_hsa046210.11185140
115Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.09607711
116RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.09002502
117Basal cell carcinoma_Homo sapiens_hsa052170.08832988
118Glioma_Homo sapiens_hsa052140.06967459
119Tyrosine metabolism_Homo sapiens_hsa003500.05137739
120Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.03558095
121Cardiac muscle contraction_Homo sapiens_hsa042600.03492834
122Melanoma_Homo sapiens_hsa052180.03235615

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