TOP2A

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This nuclear enzyme is involved in processes such as chromosome condensation, chromatid separation, and the relief of torsional stress that occurs during DNA transcription and replication. It catalyzes the transient breaking and rejoining of two strands of duplex DNA which allows the strands to pass through one another, thus altering the topology of DNA. Two forms of this enzyme exist as likely products of a gene duplication event. The gene encoding this form, alpha, is localized to chromosome 17 and the beta gene is localized to chromosome 3. The gene encoding this enzyme functions as the target for several anticancer agents and a variety of mutations in this gene have been associated with the development of drug resistance. Reduced activity of this enzyme may also play a role in ataxia-telangiectasia. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1protein localization to kinetochore (GO:0034501)6.11142801
2mitotic chromosome condensation (GO:0007076)5.78572519
3nuclear pore complex assembly (GO:0051292)5.52821917
4nuclear pore organization (GO:0006999)5.47497382
5kinetochore organization (GO:0051383)5.39903353
6mitotic sister chromatid segregation (GO:0000070)5.34601834
7protein localization to chromosome, centromeric region (GO:0071459)5.23728661
8* sister chromatid segregation (GO:0000819)5.10175925
9mitotic sister chromatid cohesion (GO:0007064)4.84333832
10* DNA unwinding involved in DNA replication (GO:0006268)4.80455099
11regulation of attachment of spindle microtubules to kinetochore (GO:0051988)4.76245902
12mitotic metaphase plate congression (GO:0007080)4.75112624
13attachment of spindle microtubules to kinetochore (GO:0008608)4.67317525
14metaphase plate congression (GO:0051310)4.52197956
15DNA replication-dependent nucleosome organization (GO:0034723)4.49923487
16DNA replication-dependent nucleosome assembly (GO:0006335)4.49923487
17chromatin remodeling at centromere (GO:0031055)4.49181485
18CENP-A containing nucleosome assembly (GO:0034080)4.47356260
19regulation of spindle organization (GO:0090224)4.43976343
20DNA strand elongation involved in DNA replication (GO:0006271)4.40042951
21mitotic nuclear envelope disassembly (GO:0007077)4.37149049
22DNA replication initiation (GO:0006270)4.34369082
23kinetochore assembly (GO:0051382)4.28694373
24meiotic chromosome segregation (GO:0045132)4.26426697
25pore complex assembly (GO:0046931)4.24047914
26establishment of chromosome localization (GO:0051303)4.20386711
27DNA replication-independent nucleosome assembly (GO:0006336)4.19304600
28DNA replication-independent nucleosome organization (GO:0034724)4.19304600
29DNA strand elongation (GO:0022616)4.17499901
30telomere maintenance via semi-conservative replication (GO:0032201)4.12631289
31nuclear envelope disassembly (GO:0051081)4.09527774
32membrane disassembly (GO:0030397)4.09527774
33positive regulation of chromosome segregation (GO:0051984)4.09485911
34regulation of mitotic spindle organization (GO:0060236)4.08439057
35regulation of histone H3-K9 methylation (GO:0051570)4.08071961
36positive regulation of mitotic sister chromatid separation (GO:1901970)3.98568048
37positive regulation of mitotic metaphase/anaphase transition (GO:0045842)3.98568048
38positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)3.98568048
39establishment of integrated proviral latency (GO:0075713)3.95579964
40* DNA ligation (GO:0006266)3.92598792
41telomere maintenance via recombination (GO:0000722)3.91093529
42* mitotic recombination (GO:0006312)3.89601407
43histone exchange (GO:0043486)3.89162115
44regulation of chromosome segregation (GO:0051983)3.88609826
45regulation of sister chromatid cohesion (GO:0007063)3.88607286
46protein localization to chromosome (GO:0034502)3.88446958
47spindle checkpoint (GO:0031577)3.86002060
48* DNA geometric change (GO:0032392)3.84769232
49* DNA duplex unwinding (GO:0032508)3.83837601
50regulation of DNA endoreduplication (GO:0032875)3.81294006
51chromatin assembly or disassembly (GO:0006333)3.80357690
52DNA replication checkpoint (GO:0000076)3.72635806
53regulation of centriole replication (GO:0046599)3.72206863
54* chromosome segregation (GO:0007059)3.69999069
55spindle assembly checkpoint (GO:0071173)3.69790620
56regulation of mitotic metaphase/anaphase transition (GO:0030071)3.67459530
57regulation of centrosome cycle (GO:0046605)3.65212846
58* chromosome condensation (GO:0030261)3.65107493
59negative regulation of mitosis (GO:0045839)3.60895782
60mitotic G2/M transition checkpoint (GO:0044818)3.60224518
61mitotic spindle organization (GO:0007052)3.59853330
62negative regulation of chromosome segregation (GO:0051985)3.58857144
63mitotic cytokinesis (GO:0000281)3.58530976
64regulation of metaphase/anaphase transition of cell cycle (GO:1902099)3.58106380
65negative regulation of sister chromatid segregation (GO:0033046)3.54975161
66negative regulation of mitotic sister chromatid separation (GO:2000816)3.54975161
67negative regulation of mitotic sister chromatid segregation (GO:0033048)3.54975161
68negative regulation of mitotic metaphase/anaphase transition (GO:0045841)3.54975161
69* DNA conformation change (GO:0071103)3.52631816
70negative regulation of histone methylation (GO:0031061)3.51049169
71mitotic spindle checkpoint (GO:0071174)3.50828121
72establishment of mitotic spindle localization (GO:0040001)3.50731274
73mitotic spindle assembly checkpoint (GO:0007094)3.49956847
74regulation of mitotic sister chromatid separation (GO:0010965)3.49895810
75regulation of mitotic sister chromatid segregation (GO:0033047)3.49895810
76regulation of sister chromatid segregation (GO:0033045)3.49895810
77dosage compensation (GO:0007549)3.49891822
78spindle assembly involved in mitosis (GO:0090307)3.49584130
79nucleotide-excision repair, DNA gap filling (GO:0006297)3.48778898
80translesion synthesis (GO:0019985)3.47830633
81ATP-dependent chromatin remodeling (GO:0043044)3.46940416
82double-strand break repair via nonhomologous end joining (GO:0006303)3.45611176
83non-recombinational repair (GO:0000726)3.45611176
84negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)3.43238271
85chromatin assembly (GO:0031497)3.41834065
86regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)3.40605229
87telomere maintenance via telomere lengthening (GO:0010833)3.40444807
88ventricular cardiac muscle cell development (GO:0055015)3.38049217
89microtubule polymerization or depolymerization (GO:0031109)3.37163237
90microtubule depolymerization (GO:0007019)3.34889678
91folic acid-containing compound biosynthetic process (GO:0009396)3.26958951
92* DNA packaging (GO:0006323)3.26451157
93IMP biosynthetic process (GO:0006188)3.25640275
94protein K6-linked ubiquitination (GO:0085020)3.23580446
95negative regulation of cell division (GO:0051782)3.22420322
96regulation of centrosome duplication (GO:0010824)3.22237610
97spindle organization (GO:0007051)3.20938879
98postreplication repair (GO:0006301)3.19747114
99V(D)J recombination (GO:0033151)3.19095180
100negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)3.18523000
101regulation of RNA export from nucleus (GO:0046831)3.18208921
102mitotic nuclear division (GO:0007067)3.17771550
103nuclear envelope organization (GO:0006998)3.17622942
104mitotic G2 DNA damage checkpoint (GO:0007095)3.16520642
105* chromosome organization (GO:0051276)3.13710017
106heterochromatin organization (GO:0070828)3.13186648
107histone-serine phosphorylation (GO:0035404)3.11441231
108negative regulation of nuclear division (GO:0051784)3.10638741
109microtubule cytoskeleton organization involved in mitosis (GO:1902850)3.09860882
110somatic diversification of immune receptors via somatic mutation (GO:0002566)3.09066404
111somatic hypermutation of immunoglobulin genes (GO:0016446)3.09066404
112DNA synthesis involved in DNA repair (GO:0000731)3.07625365
113telomere maintenance (GO:0000723)3.06518661
114mismatch repair (GO:0006298)3.05880753
115regulation of helicase activity (GO:0051095)3.05037580
116* DNA topological change (GO:0006265)3.04474338
117telomere organization (GO:0032200)3.03672033
118pre-miRNA processing (GO:0031054)3.02902083
119protein complex localization (GO:0031503)3.01446159
120negative regulation of mRNA splicing, via spliceosome (GO:0048025)2.99192283
121* mitotic cell cycle (GO:0000278)2.98157495
122negative regulation of DNA-dependent DNA replication (GO:2000104)2.96729922
123nucleobase biosynthetic process (GO:0046112)2.94543290

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* FOXM1_23109430_ChIP-Seq_U2OS_Human7.27970585
2* E2F4_17652178_ChIP-ChIP_JURKAT_Human5.07310728
3* FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human4.18263632
4FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse3.28964188
5* MYC_18555785_ChIP-Seq_MESCs_Mouse3.23806015
6EGR1_19374776_ChIP-ChIP_THP-1_Human3.06996781
7AR_21909140_ChIP-Seq_LNCAP_Human2.69195138
8E2F1_21310950_ChIP-Seq_MCF-7_Human2.58038554
9* KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.57660345
10EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.57656763
11MYC_19079543_ChIP-ChIP_MESCs_Mouse2.43560043
12MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.33361179
13* MYC_19030024_ChIP-ChIP_MESCs_Mouse2.30306945
14* MYBL2_22936984_ChIP-ChIP_MESCs_Mouse2.18216321
15* NELFA_20434984_ChIP-Seq_ESCs_Mouse2.14165042
16HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.06279439
17E2F7_22180533_ChIP-Seq_HELA_Human11.8494816
18KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.91435089
19XRN2_22483619_ChIP-Seq_HELA_Human1.86418284
20SALL1_21062744_ChIP-ChIP_HESCs_Human1.85923477
21* MYC_18358816_ChIP-ChIP_MESCs_Mouse1.85652158
22EST1_17652178_ChIP-ChIP_JURKAT_Human1.82444110
23MYC_22102868_ChIP-Seq_BL_Human1.81801863
24CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.75144819
25CREB1_15753290_ChIP-ChIP_HEK293T_Human1.72329534
26* MYCN_18555785_ChIP-Seq_MESCs_Mouse1.67115163
27CIITA_25753668_ChIP-Seq_RAJI_Human1.61371086
28MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.61142052
29VDR_23849224_ChIP-Seq_CD4+_Human1.58210631
30HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.57577584
31RBPJ_22232070_ChIP-Seq_NCS_Mouse1.56123745
32TP63_19390658_ChIP-ChIP_HaCaT_Human1.55545876
33ELK1_19687146_ChIP-ChIP_HELA_Human1.54199448
34SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.51738958
35FOXP3_21729870_ChIP-Seq_TREG_Human1.51071984
36PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.50665230
37YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.49362417
38POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.48124504
39ETS1_20019798_ChIP-Seq_JURKAT_Human1.47218527
40TTF2_22483619_ChIP-Seq_HELA_Human1.44088891
41SOX2_18555785_ChIP-Seq_MESCs_Mouse1.42319088
42* NANOG_18555785_ChIP-Seq_MESCs_Mouse1.37435202
43ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.34533485
44KDM5A_27292631_Chip-Seq_BREAST_Human1.34100292
45E2F1_18555785_ChIP-Seq_MESCs_Mouse1.34097212
46ESR1_15608294_ChIP-ChIP_MCF-7_Human1.31777453
47DCP1A_22483619_ChIP-Seq_HELA_Human1.31482389
48GABP_17652178_ChIP-ChIP_JURKAT_Human1.29861717
49* ZFX_18555785_ChIP-Seq_MESCs_Mouse1.27093217
50* HOXB4_20404135_ChIP-ChIP_EML_Mouse1.26477323
51NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.25062544
52PADI4_21655091_ChIP-ChIP_MCF-7_Human1.24499112
53SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.23926629
54TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.23019778
55TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.20334168
56* ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.16765196
57E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.15499109
58ELF1_17652178_ChIP-ChIP_JURKAT_Human1.13571566
59GABP_19822575_ChIP-Seq_HepG2_Human1.12441003
60* CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.11488906
61FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.10949409
62THAP11_20581084_ChIP-Seq_MESCs_Mouse1.10179560
63JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.09849955
64POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.08241751
65HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.08208420
66VDR_21846776_ChIP-Seq_THP-1_Human1.07520287
67SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.05586210
68POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.05372799
69KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.04087909
70SOX2_19030024_ChIP-ChIP_MESCs_Mouse1.03457914
71SOX17_20123909_ChIP-Seq_XEN_Mouse1.02086705
72KLF4_18555785_ChIP-Seq_MESCs_Mouse1.01959026
73STAT3_1855785_ChIP-Seq_MESCs_Mouse1.01449505
74NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.00316837
75ERG_20887958_ChIP-Seq_HPC-7_Mouse0.99878579
76NANOG_21062744_ChIP-ChIP_HESCs_Human0.98324407
77CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.98312258
78CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.97609735
79SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.96254417
80TFEB_21752829_ChIP-Seq_HELA_Human0.95678967
81SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.92494734
82CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.91939526
83DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.90433947
84PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.89057206
85FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human0.85488500
86TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.85116532
87MYC_18940864_ChIP-ChIP_HL60_Human0.83308211
88* SOX2_16153702_ChIP-ChIP_HESCs_Human0.82864941
89KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.82575661
90HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human0.82504250
91EWS_26573619_Chip-Seq_HEK293_Human0.82232024
92ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.80554238
93E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.79634173
94* POU5F1_16153702_ChIP-ChIP_HESCs_Human0.79149651
95WT1_19549856_ChIP-ChIP_CCG9911_Human0.78629851
96CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.78058555
97GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.76803578
98CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.76227527
99PKCTHETA_26484144_Chip-Seq_BREAST_Human0.76040664
100TCF3_18692474_ChIP-Seq_MEFs_Mouse0.75428254
101CHD1_26751641_Chip-Seq_LNCaP_Human0.74257084
102ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.72059648
103TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.71288808
104* NANOG_16153702_ChIP-ChIP_HESCs_Human0.71276927
105TCF3_18692474_ChIP-Seq_MESCs_Mouse0.70637642
106SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.70305631
107MYB_26560356_Chip-Seq_TH2_Human0.67922188
108MYB_26560356_Chip-Seq_TH1_Human0.67820049
109ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.67701846
110NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.66619734
111FUS_26573619_Chip-Seq_HEK293_Human0.66478748
112SMAD4_19686287_ChIP-ChIP_HaCaT_Human0.65851098
113* SOX9_26525672_Chip-Seq_HEART_Mouse0.62537721
114SRF_21415370_ChIP-Seq_HL-1_Mouse0.60800129
115ZNF263_19887448_ChIP-Seq_K562_Human0.60691252
116DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.59979732

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0010094_abnormal_chromosome_stability4.93281792
2MP0003693_abnormal_embryo_hatching4.49457898
3MP0003111_abnormal_nucleus_morphology4.39913986
4MP0008057_abnormal_DNA_replication3.94699465
5MP0003077_abnormal_cell_cycle3.92707397
6MP0004957_abnormal_blastocyst_morpholog3.71567736
7MP0008058_abnormal_DNA_repair2.70101665
8MP0010307_abnormal_tumor_latency2.69401732
9MP0003123_paternal_imprinting2.58013415
10MP0008007_abnormal_cellular_replicative2.54016049
11MP0010352_gastrointestinal_tract_polyps2.53648414
12MP0008932_abnormal_embryonic_tissue2.35595678
13MP0009697_abnormal_copulation2.34531117
14MP0001730_embryonic_growth_arrest2.31124916
15MP0000350_abnormal_cell_proliferation2.25908182
16MP0008877_abnormal_DNA_methylation2.21190538
17MP0005076_abnormal_cell_differentiation2.12523475
18MP0002396_abnormal_hematopoietic_system2.10736334
19MP0003121_genomic_imprinting2.06555970
20MP0005380_embryogenesis_phenotype1.85373420
21MP0001672_abnormal_embryogenesis/_devel1.85373420
22MP0006292_abnormal_olfactory_placode1.80918969
23MP0003705_abnormal_hypodermis_morpholog1.79358169
24MP0001697_abnormal_embryo_size1.78724251
25MP0004197_abnormal_fetal_growth/weight/1.76740708
26MP0004808_abnormal_hematopoietic_stem1.74899472
27MP0002085_abnormal_embryonic_tissue1.70073670
28MP0002084_abnormal_developmental_patter1.69523562
29MP0003984_embryonic_growth_retardation1.66899092
30MP0002088_abnormal_embryonic_growth/wei1.64444392
31MP0003718_maternal_effect1.64119827
32MP0000566_synostosis1.63495147
33MP0002086_abnormal_extraembryonic_tissu1.59587376
34MP0002080_prenatal_lethality1.55477180
35MP0003567_abnormal_fetal_cardiomyocyte1.51868510
36MP0000537_abnormal_urethra_morphology1.50625950
37MP0010030_abnormal_orbit_morphology1.47392585
38MP0003890_abnormal_embryonic-extraembry1.45782342
39MP0000490_abnormal_crypts_of1.44469182
40MP0003786_premature_aging1.42886376
41MP0009053_abnormal_anal_canal1.42599459
42MP0006054_spinal_hemorrhage1.35970185
43MP0002019_abnormal_tumor_incidence1.31092375
44MP0000313_abnormal_cell_death1.30856210
45MP0001293_anophthalmia1.28734655
46MP0003937_abnormal_limbs/digits/tail_de1.25517929
47MP0001346_abnormal_lacrimal_gland1.24478074
48MP0000703_abnormal_thymus_morphology1.17915656
49MP0010234_abnormal_vibrissa_follicle1.16600428
50MP0009278_abnormal_bone_marrow1.14804023
51MP0000569_abnormal_digit_pigmentation1.14757928
52MP0003787_abnormal_imprinting1.13403311
53MP0003136_yellow_coat_color1.12850392
54MP0009703_decreased_birth_body1.09167777
55MP0002210_abnormal_sex_determination1.06733111
56MP0009672_abnormal_birth_weight1.05666982
57MP0002233_abnormal_nose_morphology1.05649384
58MP0003315_abnormal_perineum_morphology1.04129522
59MP0000733_abnormal_muscle_development0.96106324
60MP0003566_abnormal_cell_adhesion0.95156359
61MP0001145_abnormal_male_reproductive0.93618890
62MP0002092_abnormal_eye_morphology0.92836771
63MP0002398_abnormal_bone_marrow0.92012646
64MP0001545_abnormal_hematopoietic_system0.91671124
65MP0005397_hematopoietic_system_phenotyp0.91671124
66MP0002111_abnormal_tail_morphology0.91520003
67MP0000428_abnormal_craniofacial_morphol0.88932096
68MP0001915_intracranial_hemorrhage0.87715677
69MP0003935_abnormal_craniofacial_develop0.86365986
70MP0005623_abnormal_meninges_morphology0.86144297
71MP0003115_abnormal_respiratory_system0.86054397
72MP0002697_abnormal_eye_size0.85818567
73MP0001299_abnormal_eye_distance/0.85781260
74MP0002722_abnormal_immune_system0.85452525
75MP0001849_ear_inflammation0.84641759
76MP0000432_abnormal_head_morphology0.83492782
77MP0003119_abnormal_digestive_system0.82749117
78MP0005023_abnormal_wound_healing0.82732783
79MP0001286_abnormal_eye_development0.82690451
80MP0001929_abnormal_gametogenesis0.81318887
81MP0002234_abnormal_pharynx_morphology0.81280521
82MP0003763_abnormal_thymus_physiology0.80440597
83MP0005171_absent_coat_pigmentation0.80189377
84MP0000579_abnormal_nail_morphology0.77593243
85MP0002925_abnormal_cardiovascular_devel0.77564752
86MP0000653_abnormal_sex_gland0.77342204
87MP0003942_abnormal_urinary_system0.77176457
88MP0000689_abnormal_spleen_morphology0.74885855
89MP0002009_preneoplasia0.74629725
90MP0000049_abnormal_middle_ear0.74535188
91MP0005248_abnormal_Harderian_gland0.74314760
92MP0010678_abnormal_skin_adnexa0.73435924
93MP0000358_abnormal_cell_content/0.73404802
94MP0000647_abnormal_sebaceous_gland0.73181271
95MP0003941_abnormal_skin_development0.72395192
96MP0000383_abnormal_hair_follicle0.71934160
97MP0004233_abnormal_muscle_weight0.71881104
98MP0005621_abnormal_cell_physiology0.71488793
99MP0005408_hypopigmentation0.71397682
100MP0005384_cellular_phenotype0.70170649
101MP0005391_vision/eye_phenotype0.69756556
102MP0004185_abnormal_adipocyte_glucose0.69263990
103MP0001529_abnormal_vocalization0.69099845
104MP0002938_white_spotting0.68902813
105MP0001119_abnormal_female_reproductive0.68134174
106MP0003755_abnormal_palate_morphology0.67506531
107MP0002166_altered_tumor_susceptibility0.67155670
108MP0002006_tumorigenesis0.67054490
109MP0004264_abnormal_extraembryonic_tissu0.66999795
110MP0003699_abnormal_female_reproductive0.65933933
111MP0003861_abnormal_nervous_system0.65750899
112MP0002081_perinatal_lethality0.65506215
113MP0000762_abnormal_tongue_morphology0.65092439
114MP0002095_abnormal_skin_pigmentation0.64281643
115MP0003385_abnormal_body_wall0.63996747
116MP0002075_abnormal_coat/hair_pigmentati0.63689506
117MP0002877_abnormal_melanocyte_morpholog0.63315630
118MP0002932_abnormal_joint_morphology0.62975471
119MP0003950_abnormal_plasma_membrane0.62602915
120MP0008789_abnormal_olfactory_epithelium0.62247646
121MP0001661_extended_life_span0.61788496
122MP0002429_abnormal_blood_cell0.61612416
123MP0000477_abnormal_intestine_morphology0.61412502
124MP0002116_abnormal_craniofacial_bone0.61001700
125MP0005187_abnormal_penis_morphology0.60735818
126MP0002161_abnormal_fertility/fecundity0.60698286
127MP0002282_abnormal_trachea_morphology0.59293523
128MP0009333_abnormal_splenocyte_physiolog0.58187400
129MP0002114_abnormal_axial_skeleton0.57889290
130MP0003943_abnormal_hepatobiliary_system0.57544174

Predicted human phenotypes

RankGene SetZ-score
1Chromsome breakage (HP:0040012)4.41767324
2Cortical dysplasia (HP:0002539)4.17572604
3Chromosomal breakage induced by crosslinking agents (HP:0003221)4.08198637
4Volvulus (HP:0002580)3.99284591
5Abnormality of chromosome stability (HP:0003220)3.61203764
6Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)3.46994865
7Short 4th metacarpal (HP:0010044)3.46994865
8Increased nuchal translucency (HP:0010880)3.44255014
9Ependymoma (HP:0002888)3.29740297
10Medulloblastoma (HP:0002885)3.25718508
11Colon cancer (HP:0003003)3.21437956
12Reticulocytopenia (HP:0001896)3.05713583
13Selective tooth agenesis (HP:0001592)3.03212791
14Impulsivity (HP:0100710)2.98055835
15Meckel diverticulum (HP:0002245)2.97839616
16Ectopic kidney (HP:0000086)2.92221424
17Proximal placement of thumb (HP:0009623)2.86013637
18Deviation of the thumb (HP:0009603)2.83194147
19Abnormality of the ileum (HP:0001549)2.83109462
20Aplasia/Hypoplasia of the uvula (HP:0010293)2.81384719
21Small intestinal stenosis (HP:0012848)2.79543459
22Duodenal stenosis (HP:0100867)2.79543459
23Abnormality of the preputium (HP:0100587)2.75722547
24Birth length less than 3rd percentile (HP:0003561)2.68977432
25Rhabdomyosarcoma (HP:0002859)2.68846697
26Patellar aplasia (HP:0006443)2.67075692
27Abnormal lung lobation (HP:0002101)2.65100700
28Myelodysplasia (HP:0002863)2.62117175
29Agnosia (HP:0010524)2.58530203
30Nephroblastoma (Wilms tumor) (HP:0002667)2.54284476
31Embryonal neoplasm (HP:0002898)2.53791491
32Astrocytoma (HP:0009592)2.52466153
33Abnormality of the astrocytes (HP:0100707)2.52466153
34Aplasia/Hypoplasia of the sacrum (HP:0008517)2.50417225
35Abnormality of the labia minora (HP:0012880)2.49009708
36Aplasia/Hypoplasia of the patella (HP:0006498)2.48926636
37Abnormal number of incisors (HP:0011064)2.47631084
38Abnormality of the 4th metacarpal (HP:0010012)2.46368145
39High pitched voice (HP:0001620)2.41612255
40Embryonal renal neoplasm (HP:0011794)2.37983041
41Sloping forehead (HP:0000340)2.36158898
42Cafe-au-lait spot (HP:0000957)2.35972614
43Abnormality of the duodenum (HP:0002246)2.34992813
4411 pairs of ribs (HP:0000878)2.34231687
45Abnormality of the carotid arteries (HP:0005344)2.32865510
46Duplication of thumb phalanx (HP:0009942)2.30330853
47Absent radius (HP:0003974)2.30288016
48Overlapping toe (HP:0001845)2.29845823
49Facial hemangioma (HP:0000329)2.28911093
50Glioma (HP:0009733)2.25074332
51High anterior hairline (HP:0009890)2.24132971
52Basal cell carcinoma (HP:0002671)2.23659379
53Atresia of the external auditory canal (HP:0000413)2.21500282
54Biliary tract neoplasm (HP:0100574)2.19560404
55Prominent nose (HP:0000448)2.18169247
56Neoplasm of the oral cavity (HP:0100649)2.15684428
57Choanal atresia (HP:0000453)2.13116425
58Absent forearm bone (HP:0003953)2.13064600
59Aplasia involving forearm bones (HP:0009822)2.13064600
60Deep philtrum (HP:0002002)2.12616360
61Neoplasm of striated muscle (HP:0009728)2.11247566
62Missing ribs (HP:0000921)2.11011280
63Absent thumb (HP:0009777)2.08180816
64Abnormality of the fingertips (HP:0001211)2.07928196
65Duplicated collecting system (HP:0000081)2.06748395
66Gastrointestinal carcinoma (HP:0002672)2.02073513
67Malignant gastrointestinal tract tumors (HP:0006749)2.02073513
68Neoplasm of the pancreas (HP:0002894)2.01565196
69Abnormality of chromosome segregation (HP:0002916)2.01368232
70Renal duplication (HP:0000075)1.99596764
71Ovarian neoplasm (HP:0100615)1.98290843
72Long eyelashes (HP:0000527)1.97353943
73Skull defect (HP:0001362)1.97133693
74Short thumb (HP:0009778)1.97059060
75Aplasia/Hypoplasia of the sternum (HP:0006714)1.95369483
76Hypoplastic pelvis (HP:0008839)1.93834506
77Cutis marmorata (HP:0000965)1.93229229
78Sandal gap (HP:0001852)1.90991979
79Supernumerary spleens (HP:0009799)1.90453418
80Neoplasm of the colon (HP:0100273)1.89815047
81Abnormality of the renal collecting system (HP:0004742)1.88627129
82Breast hypoplasia (HP:0003187)1.88507767
83Bone marrow hypocellularity (HP:0005528)1.87910662
84Abnormality of the anterior horn cell (HP:0006802)1.87684446
85Degeneration of anterior horn cells (HP:0002398)1.87684446
86Tracheoesophageal fistula (HP:0002575)1.87670156
87Abnormality of the calcaneus (HP:0008364)1.85484240
88Broad distal phalanx of finger (HP:0009836)1.84699486
89Amaurosis fugax (HP:0100576)1.84479295
90Squamous cell carcinoma (HP:0002860)1.81886643
91Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)1.81573874
92Absent epiphyses (HP:0010577)1.81573874
93Truncal obesity (HP:0001956)1.81561027
94Irregular epiphyses (HP:0010582)1.81411530
95Abnormality of the proximal phalanges of the hand (HP:0009834)1.80581338
96Clubbing of toes (HP:0100760)1.79313203
97Cutaneous melanoma (HP:0012056)1.78148003
98Broad palm (HP:0001169)1.76961828
99Abnormality of cochlea (HP:0000375)1.76641913
100Heterotopia (HP:0002282)1.76121639
101Hyperacusis (HP:0010780)1.72898469
102Small epiphyses (HP:0010585)1.72788015
103Oral leukoplakia (HP:0002745)1.72125606
104Intestinal polyp (HP:0005266)1.71331712
105Intestinal polyposis (HP:0200008)1.70976050
106Horseshoe kidney (HP:0000085)1.70507863
107Leiomyosarcoma (HP:0100243)1.69441988
108Uterine leiomyosarcoma (HP:0002891)1.69441988
109Abnormality of DNA repair (HP:0003254)1.67596119
110Arteriovenous malformation (HP:0100026)1.66568213
111Hereditary nonpolyposis colorectal carcinoma (HP:0006716)1.65272478
112Obsessive-compulsive behavior (HP:0000722)1.65252166
113Abnormality of abdominal situs (HP:0011620)1.63842812
114Abdominal situs inversus (HP:0003363)1.63842812
115Microtia (HP:0008551)1.62922451
116Hypoplasia of the capital femoral epiphysis (HP:0003090)1.62684483
117Abnormality of the septum pellucidum (HP:0007375)1.62430906
118Long clavicles (HP:0000890)1.62423369
119Triphalangeal thumb (HP:0001199)1.62284001
120Abnormal foot bone ossification (HP:0010675)1.62078869
121Hypopigmentation of the fundus (HP:0007894)1.59719794
122Multiple enchondromatosis (HP:0005701)1.55534893
123Flared metaphyses (HP:0003015)1.55056662
124Limited elbow extension (HP:0001377)1.54730837
125Vertebral arch anomaly (HP:0008438)1.54579498
126Abnormality of the fetal cardiovascular system (HP:0010948)1.54503737
127Abnormal umbilical cord blood vessels (HP:0011403)1.54503737
128Single umbilical artery (HP:0001195)1.54503737
129Progressive external ophthalmoplegia (HP:0000590)1.54260187
130Oligodactyly (hands) (HP:0001180)1.51658413
131Septo-optic dysplasia (HP:0100842)1.51512872
132Facial cleft (HP:0002006)1.51031505
133Carpal bone hypoplasia (HP:0001498)1.51004474
134Abnormality of the phalanges of the hallux (HP:0010057)1.50614454
135Oligodactyly (HP:0012165)1.50065668

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CDC75.27732373
2WEE13.72579470
3NEK23.65780838
4BUB13.61353842
5CDK122.83447223
6TTK2.75208231
7NEK12.70167177
8SRPK12.35947284
9EEF2K2.24134959
10BRSK22.20844531
11TLK12.16578214
12AURKB2.08834229
13PASK1.97144155
14* PLK11.96417441
15MKNK11.95781997
16ATR1.94238667
17STK41.85110896
18MAP3K101.78990853
19ACVR1B1.71102144
20CDK41.66057912
21RPS6KB21.65268557
22STK101.64862225
23PLK41.63928012
24CHEK21.63060055
25EIF2AK11.61297038
26CCNB11.54324886
27MAP3K81.53717367
28TSSK61.53234800
29PKN21.51539373
30BRSK11.51208157
31CHEK11.47679399
32BRD41.46846587
33CDK71.44346620
34CDK61.41795145
35TAF11.35798244
36ZAK1.33960625
37MKNK21.32791501
38BRAF1.31772860
39SCYL21.31595922
40MELK1.27658965
41* PLK31.25717583
42VRK11.24576470
43ATM1.21400094
44RPS6KA41.19615242
45TGFBR11.18757947
46VRK21.18183977
47STK31.14802026
48CLK11.14695229
49DYRK31.06351664
50AURKA1.04002804
51CDK21.01359259
52SMG10.90349163
53PIM10.89202010
54PAK40.87143646
55* CDK10.87089156
56LATS10.83799004
57TESK20.81875286
58TTN0.81628316
59ALK0.75918647
60MST1R0.73735784
61FLT30.72658191
62CDK90.72482547
63LATS20.72446391
64EIF2AK30.66199243
65LRRK20.64260241
66MTOR0.62831908
67ERBB40.61049966
68MET0.60605838
69RPS6KA50.60285811
70EPHA20.55696664
71CDK180.55387247
72CDK150.55081790
73TRIM280.54938795
74PRKDC0.52862774
75CSNK1D0.51823176
76CDK11A0.51795298
77MAP4K10.51328111
78EIF2AK20.47548943
79CDK30.46830198
80FGFR10.46770852
81PNCK0.46131495
82PTK60.45423828
83CDK140.44815473
84MAPK140.44319444
85* CSNK2A20.43680025
86BCR0.43673926
87ICK0.42320138
88YES10.42189438
89TRIB30.41338468
90AKT20.40585888
91MARK30.40152310
92ERBB30.38810535
93* CSNK2A10.38641777
94DYRK1B0.38531011
95PAK10.38385739
96PBK0.38079201
97STK38L0.36233478
98AKT10.35529188
99PLK20.35186376
100PAK20.34075982
101CAMK1G0.33929076
102GRK60.33233553
103KSR10.31498198
104CSNK1E0.31195307
105BTK0.30895895
106NEK90.29759287
107NUAK10.29060303
108PDGFRA0.28782174
109CSF1R0.28554814
110STK160.25972089
111UHMK10.25901764
112* GSK3B0.25528932
113CAMK1D0.24552481
114* MAPK10.23810864
115TRPM70.23641216
116RPS6KB10.23621680
117TEC0.23598664
118NME20.23531270
119MST40.23223430
120RAF10.22119514
121CDK80.22051900
122CHUK0.21711104
123RPS6KC10.20972914
124DMPK0.19519080
125PRKCI0.18918239
126FGFR20.18631274
127TNIK0.17239437
128MINK10.16586723

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030304.99729476
2Mismatch repair_Homo sapiens_hsa034304.44665156
3Cell cycle_Homo sapiens_hsa041103.49128660
4Homologous recombination_Homo sapiens_hsa034403.14995636
5Base excision repair_Homo sapiens_hsa034103.14394041
6Spliceosome_Homo sapiens_hsa030403.09999815
7RNA transport_Homo sapiens_hsa030132.99326152
8Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.83409404
9Systemic lupus erythematosus_Homo sapiens_hsa053222.77720341
10One carbon pool by folate_Homo sapiens_hsa006702.72806294
11Fanconi anemia pathway_Homo sapiens_hsa034602.71192507
12Nucleotide excision repair_Homo sapiens_hsa034202.68810159
13Non-homologous end-joining_Homo sapiens_hsa034502.62730753
14Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.21827731
15mRNA surveillance pathway_Homo sapiens_hsa030152.11307422
16p53 signaling pathway_Homo sapiens_hsa041151.83476691
17RNA degradation_Homo sapiens_hsa030181.78797917
18Ribosome_Homo sapiens_hsa030101.67554651
19Viral carcinogenesis_Homo sapiens_hsa052031.66583973
20Pyrimidine metabolism_Homo sapiens_hsa002401.58037050
21RNA polymerase_Homo sapiens_hsa030201.49697356
22Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.43265837
23Alcoholism_Homo sapiens_hsa050341.39490943
24Basal transcription factors_Homo sapiens_hsa030221.37125202
25Oocyte meiosis_Homo sapiens_hsa041141.37046130
26MicroRNAs in cancer_Homo sapiens_hsa052061.35964240
27Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.33504046
28Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.24972423
29HTLV-I infection_Homo sapiens_hsa051661.15808203
30Proteasome_Homo sapiens_hsa030501.13426529
31Small cell lung cancer_Homo sapiens_hsa052221.12340966
32Antigen processing and presentation_Homo sapiens_hsa046121.12201212
33Epstein-Barr virus infection_Homo sapiens_hsa051691.12094670
34Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.11396635
35Herpes simplex infection_Homo sapiens_hsa051681.09505577
36Transcriptional misregulation in cancer_Homo sapiens_hsa052021.06491159
37Pyruvate metabolism_Homo sapiens_hsa006201.05768546
382-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.01608252
39Steroid biosynthesis_Homo sapiens_hsa001000.97781003
40Chronic myeloid leukemia_Homo sapiens_hsa052200.92693076
41Carbon metabolism_Homo sapiens_hsa012000.90876056
42Colorectal cancer_Homo sapiens_hsa052100.90362709
43Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.82848615
44Protein export_Homo sapiens_hsa030600.81443870
45Basal cell carcinoma_Homo sapiens_hsa052170.81305099
46Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.78193023
47Primary immunodeficiency_Homo sapiens_hsa053400.78176860
48Thyroid cancer_Homo sapiens_hsa052160.77270655
49Folate biosynthesis_Homo sapiens_hsa007900.76407059
50Lysine degradation_Homo sapiens_hsa003100.76052773
51Adherens junction_Homo sapiens_hsa045200.74759885
52Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.73828013
53Hippo signaling pathway_Homo sapiens_hsa043900.72883669
54Hepatitis B_Homo sapiens_hsa051610.70831750
55Purine metabolism_Homo sapiens_hsa002300.70516896
56Viral myocarditis_Homo sapiens_hsa054160.69735651
57TGF-beta signaling pathway_Homo sapiens_hsa043500.69245081
58Vitamin B6 metabolism_Homo sapiens_hsa007500.68951746
59Selenocompound metabolism_Homo sapiens_hsa004500.68231308
60Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.67912076
61Prostate cancer_Homo sapiens_hsa052150.64296747
62Propanoate metabolism_Homo sapiens_hsa006400.64177929
63Notch signaling pathway_Homo sapiens_hsa043300.63576625
64Apoptosis_Homo sapiens_hsa042100.61291112
65Non-small cell lung cancer_Homo sapiens_hsa052230.61149197
66Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.58404638
67Pancreatic cancer_Homo sapiens_hsa052120.58006057
68NF-kappa B signaling pathway_Homo sapiens_hsa040640.57420663
69Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.57268079
70Legionellosis_Homo sapiens_hsa051340.54059863
71Pathways in cancer_Homo sapiens_hsa052000.53531272
72Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.53352043
73mTOR signaling pathway_Homo sapiens_hsa041500.53286579
74Measles_Homo sapiens_hsa051620.52416964
75Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.50933616
76Central carbon metabolism in cancer_Homo sapiens_hsa052300.49965912
77Proteoglycans in cancer_Homo sapiens_hsa052050.49952404
78Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.49159091
79Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.48987107
80Bladder cancer_Homo sapiens_hsa052190.48489974
81Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.46133627
82FoxO signaling pathway_Homo sapiens_hsa040680.45673931
83B cell receptor signaling pathway_Homo sapiens_hsa046620.45582307
84Hedgehog signaling pathway_Homo sapiens_hsa043400.42756710
85Endometrial cancer_Homo sapiens_hsa052130.42219930
86Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.41788418
87Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.40597078
88Leukocyte transendothelial migration_Homo sapiens_hsa046700.40191877
89Biosynthesis of amino acids_Homo sapiens_hsa012300.39471588
90Fatty acid elongation_Homo sapiens_hsa000620.39462134
91HIF-1 signaling pathway_Homo sapiens_hsa040660.39461645
92Influenza A_Homo sapiens_hsa051640.39062773
93Glutathione metabolism_Homo sapiens_hsa004800.39052491
94NOD-like receptor signaling pathway_Homo sapiens_hsa046210.38907536
95Thyroid hormone signaling pathway_Homo sapiens_hsa049190.38126170
96Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.36584960
97Pentose phosphate pathway_Homo sapiens_hsa000300.36058404
98Shigellosis_Homo sapiens_hsa051310.35724501
99Cyanoamino acid metabolism_Homo sapiens_hsa004600.35129769
100Melanoma_Homo sapiens_hsa052180.33660142
101Wnt signaling pathway_Homo sapiens_hsa043100.33075921
102Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.32746494
103Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.32260746
104N-Glycan biosynthesis_Homo sapiens_hsa005100.30492004
105Fatty acid metabolism_Homo sapiens_hsa012120.30428504
106Hematopoietic cell lineage_Homo sapiens_hsa046400.30396200
107Acute myeloid leukemia_Homo sapiens_hsa052210.30007779
108Huntingtons disease_Homo sapiens_hsa050160.28780119
109T cell receptor signaling pathway_Homo sapiens_hsa046600.28564712
110Tight junction_Homo sapiens_hsa045300.28102610
111Focal adhesion_Homo sapiens_hsa045100.26158765
112Glioma_Homo sapiens_hsa052140.24979056
113PI3K-Akt signaling pathway_Homo sapiens_hsa041510.24629856
114Intestinal immune network for IgA production_Homo sapiens_hsa046720.24079893
115Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.23781656
116Toxoplasmosis_Homo sapiens_hsa051450.23057795
117Gap junction_Homo sapiens_hsa045400.22477190
118Regulation of actin cytoskeleton_Homo sapiens_hsa048100.21604903
119Drug metabolism - other enzymes_Homo sapiens_hsa009830.21092340
120AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.20960605
121Cysteine and methionine metabolism_Homo sapiens_hsa002700.19891567
122Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.19497902
123Leishmaniasis_Homo sapiens_hsa051400.19011868
124Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.18803400
125Melanogenesis_Homo sapiens_hsa049160.18384102
126Neurotrophin signaling pathway_Homo sapiens_hsa047220.18238038
127Platelet activation_Homo sapiens_hsa046110.18123298
128Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.17838568
129Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.17377822
130Sulfur relay system_Homo sapiens_hsa041220.15483745
131Metabolic pathways_Homo sapiens_hsa011000.14780598
132AMPK signaling pathway_Homo sapiens_hsa041520.14682872
133Fatty acid biosynthesis_Homo sapiens_hsa000610.12776284

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