ASPM

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 is the human ortholog of the Drosophila melanogaster 'abnormal spindle' gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts. Studies in mouse also suggest a role of this gene in mitotic spindle regulation, with a preferential role in regulating neurogenesis. Mutations in this gene are associated with microcephaly primary type 5. Multiple transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1mitotic chromosome condensation (GO:0007076)6.47827023
2protein localization to kinetochore (GO:0034501)6.30870306
3kinetochore organization (GO:0051383)5.94398065
4mitotic sister chromatid segregation (GO:0000070)5.81043544
5sister chromatid segregation (GO:0000819)5.76839405
6mitotic metaphase plate congression (GO:0007080)5.63946964
7protein localization to chromosome, centromeric region (GO:0071459)5.62823147
8attachment of spindle microtubules to kinetochore (GO:0008608)5.38250756
9metaphase plate congression (GO:0051310)5.33176649
10nuclear pore complex assembly (GO:0051292)5.26131042
11establishment of chromosome localization (GO:0051303)5.09963824
12mitotic sister chromatid cohesion (GO:0007064)5.04168059
13nuclear pore organization (GO:0006999)4.99518723
14regulation of attachment of spindle microtubules to kinetochore (GO:0051988)4.97362060
15regulation of spindle organization (GO:0090224)4.88318147
16kinetochore assembly (GO:0051382)4.87939504
17meiotic chromosome segregation (GO:0045132)4.82042513
18DNA ligation (GO:0006266)4.80823575
19regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450914.70357751
20regulation of mitotic spindle organization (GO:0060236)4.68104860
21regulation of sister chromatid cohesion (GO:0007063)4.53744506
22CENP-A containing nucleosome assembly (GO:0034080)4.52058814
23chromatin remodeling at centromere (GO:0031055)4.46807238
24positive regulation of mitotic sister chromatid separation (GO:1901970)4.45550323
25positive regulation of mitotic metaphase/anaphase transition (GO:0045842)4.45550323
26positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)4.45550323
27positive regulation of chromosome segregation (GO:0051984)4.42022539
28spindle checkpoint (GO:0031577)4.39060657
29mitotic nuclear envelope disassembly (GO:0007077)4.35293358
30DNA unwinding involved in DNA replication (GO:0006268)4.32684572
31protein localization to chromosome (GO:0034502)4.29239734
32regulation of chromosome segregation (GO:0051983)4.19984801
33DNA replication-independent nucleosome assembly (GO:0006336)4.18833957
34DNA replication-independent nucleosome organization (GO:0034724)4.18833957
35chromosome segregation (GO:0007059)4.17596962
36nuclear envelope disassembly (GO:0051081)4.09217945
37membrane disassembly (GO:0030397)4.09217945
38regulation of metaphase/anaphase transition of cell cycle (GO:1902099)4.08334582
39spindle assembly checkpoint (GO:0071173)4.07005981
40regulation of mitotic metaphase/anaphase transition (GO:0030071)4.05551781
41histone exchange (GO:0043486)4.03510296
42telomere maintenance via semi-conservative replication (GO:0032201)4.02737197
43DNA replication-dependent nucleosome assembly (GO:0006335)4.02447527
44DNA replication-dependent nucleosome organization (GO:0034723)4.02447527
45chromosome condensation (GO:0030261)3.98610551
46protein K6-linked ubiquitination (GO:0085020)3.97752215
47negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)3.95009420
48negative regulation of chromosome segregation (GO:0051985)3.94849192
49pore complex assembly (GO:0046931)3.94246958
50regulation of histone H3-K9 methylation (GO:0051570)3.92741392
51mitotic spindle checkpoint (GO:0071174)3.91877602
52negative regulation of mitotic sister chromatid separation (GO:2000816)3.90979554
53negative regulation of mitotic sister chromatid segregation (GO:0033048)3.90979554
54negative regulation of mitotic metaphase/anaphase transition (GO:0045841)3.90979554
55negative regulation of sister chromatid segregation (GO:0033046)3.90979554
56regulation of centriole replication (GO:0046599)3.89117675
57regulation of sister chromatid segregation (GO:0033045)3.88501232
58regulation of mitotic sister chromatid separation (GO:0010965)3.88501232
59regulation of mitotic sister chromatid segregation (GO:0033047)3.88501232
60mitotic spindle assembly checkpoint (GO:0007094)3.87686855
61chromatin assembly or disassembly (GO:0006333)3.83344826
62regulation of centrosome cycle (GO:0046605)3.75596430
63negative regulation of histone methylation (GO:0031061)3.75285658
64microtubule depolymerization (GO:0007019)3.73725801
65DNA replication checkpoint (GO:0000076)3.67649026
66non-recombinational repair (GO:0000726)3.65922620
67double-strand break repair via nonhomologous end joining (GO:0006303)3.65922620
68histone H2A monoubiquitination (GO:0035518)3.58634841
69DNA packaging (GO:0006323)3.51091323
70DNA topological change (GO:0006265)3.50975227
71DNA replication initiation (GO:0006270)3.44967346
72ATP-dependent chromatin remodeling (GO:0043044)3.42469847
73mitotic spindle organization (GO:0007052)3.42444082
74replication fork processing (GO:0031297)3.38098555
75pre-miRNA processing (GO:0031054)3.37921373
76regulation of exit from mitosis (GO:0007096)3.35794578
77DNA duplex unwinding (GO:0032508)3.34201958
78DNA geometric change (GO:0032392)3.33996072
79establishment of integrated proviral latency (GO:0075713)3.31927845
80histone-serine phosphorylation (GO:0035404)3.30665749
81spindle assembly involved in mitosis (GO:0090307)3.29567648
82negative regulation of DNA repair (GO:0045738)3.28325357
83centriole replication (GO:0007099)3.26307390
84ventricular cardiac muscle cell development (GO:0055015)3.25128948
85DNA double-strand break processing (GO:0000729)3.23953188
86mitotic cell cycle (GO:0000278)3.23494286
87mitotic recombination (GO:0006312)3.23110565
88nuclear envelope organization (GO:0006998)3.22453222
89DNA conformation change (GO:0071103)3.21783781
90microtubule polymerization or depolymerization (GO:0031109)3.21237031
91regulation of RNA export from nucleus (GO:0046831)3.20018767
92positive regulation of cell cycle checkpoint (GO:1901978)3.17117862
93negative regulation of DNA-dependent DNA replication (GO:2000104)3.16996928
94chromatin assembly (GO:0031497)3.14302476
95V(D)J recombination (GO:0033151)3.13552729
96DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 cla3.13258729
97DNA strand elongation involved in DNA replication (GO:0006271)3.11714306
98heterochromatin organization (GO:0070828)3.11459268
99regulation of telomere maintenance via telomerase (GO:0032210)3.10886154
100regulation of spindle checkpoint (GO:0090231)3.10553980
101negative regulation of mitosis (GO:0045839)3.08295784
102resolution of meiotic recombination intermediates (GO:0000712)3.07822138
103regulation of DNA endoreduplication (GO:0032875)3.07209749
104gene silencing by RNA (GO:0031047)3.07162934
105establishment of mitotic spindle localization (GO:0040001)3.04626194
106regulation of centrosome duplication (GO:0010824)3.03431210
107sister chromatid cohesion (GO:0007062)3.03088104
108dosage compensation (GO:0007549)3.01451062
109negative regulation of chromosome organization (GO:2001251)2.98644165
110regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)2.97041133
111chromosome organization (GO:0051276)2.95892286
112negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)2.95818835
113DNA strand elongation (GO:0022616)2.95549842
114mitotic G2/M transition checkpoint (GO:0044818)2.94301655
115mitotic cytokinesis (GO:0000281)2.93416910
116telomere maintenance via recombination (GO:0000722)2.92191906
117establishment of spindle localization (GO:0051293)2.91798347
118meiotic cell cycle (GO:0051321)2.91010614
119maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)2.90096452
120DNA damage response, signal transduction resulting in transcription (GO:0042772)2.87980307

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* FOXM1_23109430_ChIP-Seq_U2OS_Human8.49947574
2* E2F4_17652178_ChIP-ChIP_JURKAT_Human5.34938383
3* FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human4.87722994
4AR_21909140_ChIP-Seq_LNCAP_Human3.18291291
5SALL1_21062744_ChIP-ChIP_HESCs_Human3.11937305
6* KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.90967033
7* MYC_18555785_ChIP-Seq_MESCs_Mouse2.80841036
8E2F1_21310950_ChIP-Seq_MCF-7_Human2.69614944
9EGR1_19374776_ChIP-ChIP_THP-1_Human2.65056534
10MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.63369084
11FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.62427660
12MYBL2_22936984_ChIP-ChIP_MESCs_Mouse2.20200704
13NELFA_20434984_ChIP-Seq_ESCs_Mouse2.07553449
14MYC_19079543_ChIP-ChIP_MESCs_Mouse2.07024819
15MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.04703925
16HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.03501901
17TP63_19390658_ChIP-ChIP_HaCaT_Human2.03274417
18MYC_19030024_ChIP-ChIP_MESCs_Mouse2.02051895
19E2F7_22180533_ChIP-Seq_HELA_Human11.6033171
20RBPJ_22232070_ChIP-Seq_NCS_Mouse1.96732663
21EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.78581475
22MYCN_18555785_ChIP-Seq_MESCs_Mouse1.75523719
23KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.60538494
24MYC_22102868_ChIP-Seq_BL_Human1.59582876
25HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.55662679
26CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.55596717
27SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.53309213
28XRN2_22483619_ChIP-Seq_HELA_Human1.52078335
29PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.52059345
30EST1_17652178_ChIP-ChIP_JURKAT_Human1.50768510
31NANOG_18555785_ChIP-Seq_MESCs_Mouse1.50372528
32* MYC_18358816_ChIP-ChIP_MESCs_Mouse1.44045134
33CIITA_25753668_ChIP-Seq_RAJI_Human1.42407786
34YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.41103339
35POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.36837045
36VDR_23849224_ChIP-Seq_CD4+_Human1.34406898
37ELK1_19687146_ChIP-ChIP_HELA_Human1.31585125
38SOX2_19030024_ChIP-ChIP_MESCs_Mouse1.29821280
39TTF2_22483619_ChIP-Seq_HELA_Human1.29616025
40NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.28295466
41KDM5A_27292631_Chip-Seq_BREAST_Human1.27325213
42FOXP3_21729870_ChIP-Seq_TREG_Human1.27280781
43SOX2_18555785_ChIP-Seq_MESCs_Mouse1.26912928
44CREB1_15753290_ChIP-ChIP_HEK293T_Human1.25702199
45ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.23684816
46* E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.20808403
47NANOG_21062744_ChIP-ChIP_HESCs_Human1.15686994
48ZFX_18555785_ChIP-Seq_MESCs_Mouse1.15370783
49PADI4_21655091_ChIP-ChIP_MCF-7_Human1.15307762
50* E2F1_18555785_ChIP-Seq_MESCs_Mouse1.14718118
51ETS1_20019798_ChIP-Seq_JURKAT_Human1.13376979
52ESR1_15608294_ChIP-ChIP_MCF-7_Human1.12931219
53PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.12371743
54PKCTHETA_26484144_Chip-Seq_BREAST_Human1.11275657
55* HOXB4_20404135_ChIP-ChIP_EML_Mouse1.11214754
56* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.11048997
57SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.09550799
58MYC_18940864_ChIP-ChIP_HL60_Human1.06767454
59POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.05207198
60DCP1A_22483619_ChIP-Seq_HELA_Human1.04440069
61HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.04006121
62KLF4_18555785_ChIP-Seq_MESCs_Mouse1.01875038
63GABP_19822575_ChIP-Seq_HepG2_Human1.01301070
64CCND1_20090754_ChIP-ChIP_RETINA_Mouse0.99318111
65HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human0.98861985
66BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.98280920
67SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.97349217
68GABP_17652178_ChIP-ChIP_JURKAT_Human0.96707530
69FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse0.95675522
70SOX2_16153702_ChIP-ChIP_HESCs_Human0.95288527
71POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.94003670
72TCF3_18692474_ChIP-Seq_MESCs_Mouse0.92953644
73WT1_19549856_ChIP-ChIP_CCG9911_Human0.92233873
74DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.92035555
75SOX17_20123909_ChIP-Seq_XEN_Mouse0.91897280
76FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human0.91267443
77ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.88150631
78NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.87341454
79TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.85497707
80CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.85052945
81CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.83424976
82EWS_26573619_Chip-Seq_HEK293_Human0.82686832
83KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.82149672
84TCF3_18692474_ChIP-Seq_MEFs_Mouse0.82033455
85NANOG_18347094_ChIP-ChIP_MESCs_Mouse0.81850945
86SOX9_26525672_Chip-Seq_HEART_Mouse0.78365444
87VDR_21846776_ChIP-Seq_THP-1_Human0.77452011
88SMAD4_19686287_ChIP-ChIP_HaCaT_Human0.76833005
89TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.76769004
90TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.76050796
91THAP11_20581084_ChIP-Seq_MESCs_Mouse0.75422245
92ZFP42_18358816_ChIP-ChIP_MESCs_Mouse0.75363414
93ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.75148405
94* CHD1_26751641_Chip-Seq_LNCaP_Human0.73698195
95POU3F2_20337985_ChIP-ChIP_501MEL_Human0.72861409
96TFEB_21752829_ChIP-Seq_HELA_Human0.72707172
97GATA1_26923725_Chip-Seq_HPCs_Mouse0.72187471
98STAT6_21828071_ChIP-Seq_BEAS2B_Human0.72177617
99* CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.71471926
100NOTCH1_17114293_ChIP-ChIP_T-ALL_Human0.70680318
101STAT3_1855785_ChIP-Seq_MESCs_Mouse0.70054751
102RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.70009964
103ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.69973303
104ZFP322A_24550733_ChIP-Seq_MESCs_Mouse0.69717751
105POU5F1_16153702_ChIP-ChIP_HESCs_Human0.69453341
106* ERG_20887958_ChIP-Seq_HPC-7_Mouse0.68963097
107JARID1A_20064375_ChIP-Seq_MESCs_Mouse0.66517502
108NANOG_16153702_ChIP-ChIP_HESCs_Human0.65764578
109FUS_26573619_Chip-Seq_HEK293_Human0.64569405
110* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.64370410
111TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.64180411
112E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.63170368
113TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.62674510
114* FOXM1_26456572_ChIP-Seq_MCF-7_Human0.60970451
115CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.59538381
116RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.59184017
117DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.58959239
118* FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.56409448

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0010094_abnormal_chromosome_stability4.84222356
2MP0003693_abnormal_embryo_hatching4.76157800
3MP0003111_abnormal_nucleus_morphology4.38955471
4MP0003077_abnormal_cell_cycle3.98837092
5MP0004957_abnormal_blastocyst_morpholog3.79936656
6MP0008057_abnormal_DNA_replication3.42603907
7MP0008877_abnormal_DNA_methylation2.79497011
8MP0009697_abnormal_copulation2.58315238
9MP0008932_abnormal_embryonic_tissue2.49385365
10MP0008058_abnormal_DNA_repair2.48515234
11MP0003718_maternal_effect2.47082991
12MP0008007_abnormal_cellular_replicative2.42546942
13MP0003121_genomic_imprinting2.40239669
14MP0003123_paternal_imprinting2.30688689
15MP0010307_abnormal_tumor_latency2.30655063
16MP0000350_abnormal_cell_proliferation2.23866685
17MP0001730_embryonic_growth_arrest2.22111287
18MP0010352_gastrointestinal_tract_polyps2.08877656
19MP0005076_abnormal_cell_differentiation2.02390627
20MP0001672_abnormal_embryogenesis/_devel1.94981502
21MP0005380_embryogenesis_phenotype1.94981502
22MP0003705_abnormal_hypodermis_morpholog1.91335234
23MP0003787_abnormal_imprinting1.86003951
24MP0002085_abnormal_embryonic_tissue1.84975856
25MP0001697_abnormal_embryo_size1.83032956
26MP0002084_abnormal_developmental_patter1.81828554
27MP0002009_preneoplasia1.79284452
28MP0002396_abnormal_hematopoietic_system1.77814727
29MP0003937_abnormal_limbs/digits/tail_de1.77064721
30MP0003984_embryonic_growth_retardation1.65954311
31MP0002088_abnormal_embryonic_growth/wei1.62694145
32MP0002086_abnormal_extraembryonic_tissu1.59491636
33MP0003890_abnormal_embryonic-extraembry1.53651891
34MP0004197_abnormal_fetal_growth/weight/1.51423906
35MP0010030_abnormal_orbit_morphology1.45476935
36MP0002080_prenatal_lethality1.44067732
37MP0004808_abnormal_hematopoietic_stem1.39190095
38MP0000569_abnormal_digit_pigmentation1.38684673
39MP0003567_abnormal_fetal_cardiomyocyte1.32443909
40* MP0002210_abnormal_sex_determination1.30152719
41MP0000313_abnormal_cell_death1.23631438
42MP0001293_anophthalmia1.22581406
43MP0002019_abnormal_tumor_incidence1.22133153
44* MP0001929_abnormal_gametogenesis1.20848651
45MP0000490_abnormal_crypts_of1.19986545
46MP0002938_white_spotting1.18673944
47MP0004264_abnormal_extraembryonic_tissu1.17912537
48* MP0001119_abnormal_female_reproductive1.17807426
49MP0009053_abnormal_anal_canal1.17588090
50MP0003315_abnormal_perineum_morphology1.15847780
51MP0003786_premature_aging1.15664284
52MP0002233_abnormal_nose_morphology1.13410259
53* MP0000653_abnormal_sex_gland1.12244419
54MP0010234_abnormal_vibrissa_follicle1.10271746
55MP0003136_yellow_coat_color1.09000233
56MP0003935_abnormal_craniofacial_develop1.08463671
57MP0001346_abnormal_lacrimal_gland1.07416094
58MP0000733_abnormal_muscle_development1.04095884
59MP0003755_abnormal_palate_morphology1.03902929
60* MP0001145_abnormal_male_reproductive1.03657015
61MP0001915_intracranial_hemorrhage1.03603584
62* MP0003699_abnormal_female_reproductive1.02538701
63MP0000537_abnormal_urethra_morphology0.98784317
64MP0005395_other_phenotype0.94333145
65* MP0000432_abnormal_head_morphology0.93081584
66MP0009672_abnormal_birth_weight0.92247439
67MP0006054_spinal_hemorrhage0.92004752
68MP0009703_decreased_birth_body0.91926414
69MP0002932_abnormal_joint_morphology0.91583606
70MP0002249_abnormal_larynx_morphology0.91543794
71MP0002234_abnormal_pharynx_morphology0.91473282
72MP0002092_abnormal_eye_morphology0.88821964
73MP0000566_synostosis0.88006293
74MP0002111_abnormal_tail_morphology0.87648302
75MP0000703_abnormal_thymus_morphology0.87061533
76MP0001286_abnormal_eye_development0.86695122
77MP0000428_abnormal_craniofacial_morphol0.86603997
78MP0005621_abnormal_cell_physiology0.85868677
79MP0001849_ear_inflammation0.85667664
80MP0003119_abnormal_digestive_system0.85129101
81MP0003941_abnormal_skin_development0.84800135
82MP0005397_hematopoietic_system_phenotyp0.84011090
83MP0001545_abnormal_hematopoietic_system0.84011090
84MP0009278_abnormal_bone_marrow0.83836896
85MP0002877_abnormal_melanocyte_morpholog0.83039770
86MP0005623_abnormal_meninges_morphology0.81565903
87MP0002925_abnormal_cardiovascular_devel0.81195329
88MP0003861_abnormal_nervous_system0.80224858
89MP0010678_abnormal_skin_adnexa0.79998495
90MP0005384_cellular_phenotype0.79931194
91MP0004185_abnormal_adipocyte_glucose0.78985046
92MP0005023_abnormal_wound_healing0.78960008
93MP0000383_abnormal_hair_follicle0.78937095
94MP0003943_abnormal_hepatobiliary_system0.78641505
95MP0001299_abnormal_eye_distance/0.77731064
96MP0006292_abnormal_olfactory_placode0.77430620
97MP0001661_extended_life_span0.76198049
98MP0003115_abnormal_respiratory_system0.76175900
99MP0005187_abnormal_penis_morphology0.76026863
100MP0002102_abnormal_ear_morphology0.75791056
101MP0005391_vision/eye_phenotype0.74914742
102MP0003385_abnormal_body_wall0.74668579
103MP0002697_abnormal_eye_size0.71944927
104MP0006072_abnormal_retinal_apoptosis0.71727745
105MP0002282_abnormal_trachea_morphology0.71409926
106MP0000647_abnormal_sebaceous_gland0.71325827
107MP0000579_abnormal_nail_morphology0.71098657
108MP0000358_abnormal_cell_content/0.70170666
109MP0003566_abnormal_cell_adhesion0.70156762
110MP0005171_absent_coat_pigmentation0.69819123
111MP0002653_abnormal_ependyma_morphology0.69380020
112MP0000762_abnormal_tongue_morphology0.68491558
113MP0008789_abnormal_olfactory_epithelium0.67634768
114MP0000427_abnormal_hair_cycle0.67566514
115MP0009250_abnormal_appendicular_skeleto0.67446141
116MP0003950_abnormal_plasma_membrane0.66547216
117MP0002114_abnormal_axial_skeleton0.66084031
118MP0002116_abnormal_craniofacial_bone0.66050909
119MP0005248_abnormal_Harderian_gland0.65797843
120* MP0002161_abnormal_fertility/fecundity0.65223477
121MP0002177_abnormal_outer_ear0.64438866
122MP0000049_abnormal_middle_ear0.64165363
123MP0002081_perinatal_lethality0.63114740
124MP0004233_abnormal_muscle_weight0.61923622
125MP0003942_abnormal_urinary_system0.61624844
126MP0002398_abnormal_bone_marrow0.61423989
127MP0002109_abnormal_limb_morphology0.61177679
128MP0005389_reproductive_system_phenotype0.59804906

Predicted human phenotypes

RankGene SetZ-score
1Chromsome breakage (HP:0040012)4.82105327
2Chromosomal breakage induced by crosslinking agents (HP:0003221)4.36975931
3Volvulus (HP:0002580)3.74097132
4Abnormality of chromosome stability (HP:0003220)3.54787428
5Medulloblastoma (HP:0002885)3.45702293
6Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)3.42156395
7Short 4th metacarpal (HP:0010044)3.42156395
8Abnormality of the labia minora (HP:0012880)3.30371055
9Birth length less than 3rd percentile (HP:0003561)3.10269755
10Rhabdomyosarcoma (HP:0002859)3.08656446
11Increased nuchal translucency (HP:0010880)3.08630105
12Impulsivity (HP:0100710)3.05532329
13Patellar aplasia (HP:0006443)2.99071202
14Ectopic kidney (HP:0000086)2.95083698
15Colon cancer (HP:0003003)2.93614499
16Abnormality of the fingertips (HP:0001211)2.91136368
17Facial hemangioma (HP:0000329)2.88599720
18Meckel diverticulum (HP:0002245)2.87590866
19Aplasia/Hypoplasia of the uvula (HP:0010293)2.84888086
20Small intestinal stenosis (HP:0012848)2.78565723
21Duodenal stenosis (HP:0100867)2.78565723
22Aplasia/Hypoplasia of the patella (HP:0006498)2.76483877
23Abnormality of the preputium (HP:0100587)2.75058571
24Abnormality of the ileum (HP:0001549)2.70498698
25Ependymoma (HP:0002888)2.66535547
26Papillary thyroid carcinoma (HP:0002895)2.58033633
27Neoplasm of the oral cavity (HP:0100649)2.56387445
28Selective tooth agenesis (HP:0001592)2.55873006
29Nephroblastoma (Wilms tumor) (HP:0002667)2.54391763
30Myelodysplasia (HP:0002863)2.52861122
31Abnormality of the 4th metacarpal (HP:0010012)2.52168225
32Deviation of the thumb (HP:0009603)2.49603101
33Missing ribs (HP:0000921)2.48847650
34Absent radius (HP:0003974)2.45127986
35Neoplasm of striated muscle (HP:0009728)2.45114770
36Sandal gap (HP:0001852)2.44014279
37Aplasia/Hypoplasia of the sacrum (HP:0008517)2.42798971
38Abnormal lung lobation (HP:0002101)2.41735594
39Breast hypoplasia (HP:0003187)2.40598698
40Triphalangeal thumb (HP:0001199)2.38947250
41Abnormality of chromosome segregation (HP:0002916)2.38412650
42Embryonal renal neoplasm (HP:0011794)2.37805358
43Cafe-au-lait spot (HP:0000957)2.34901916
44Embryonal neoplasm (HP:0002898)2.34456467
45Aplasia/Hypoplasia of the sternum (HP:0006714)2.33271536
46Arteriovenous malformation (HP:0100026)2.32729216
47Proximal placement of thumb (HP:0009623)2.31358711
48Abnormality of the duodenum (HP:0002246)2.29460786
49Aplasia involving forearm bones (HP:0009822)2.29104754
50Absent forearm bone (HP:0003953)2.29104754
51Abnormality of the carotid arteries (HP:0005344)2.28560258
52Astrocytoma (HP:0009592)2.26955617
53Abnormality of the astrocytes (HP:0100707)2.26955617
54* Sloping forehead (HP:0000340)2.22725005
5511 pairs of ribs (HP:0000878)2.22649000
56Long eyelashes (HP:0000527)2.21498727
57Choanal atresia (HP:0000453)2.21035730
58Deep philtrum (HP:0002002)2.18851465
59Gastrointestinal carcinoma (HP:0002672)2.18762599
60Malignant gastrointestinal tract tumors (HP:0006749)2.18762599
61Biliary tract neoplasm (HP:0100574)2.18181158
62High pitched voice (HP:0001620)2.16628838
63Supernumerary spleens (HP:0009799)2.14369927
64Short thumb (HP:0009778)2.10845293
65Prominent nose (HP:0000448)2.10420361
66Duplication of thumb phalanx (HP:0009942)2.08677160
67Acute myeloid leukemia (HP:0004808)2.06672449
68Agnosia (HP:0010524)2.03381762
69Oligodactyly (HP:0012165)2.03343010
70Long clavicles (HP:0000890)2.02428719
71Atresia of the external auditory canal (HP:0000413)2.02132161
72Oligodactyly (hands) (HP:0001180)2.01339279
73Broad thumb (HP:0011304)1.99784770
74High anterior hairline (HP:0009890)1.97908786
75Aplasia/Hypoplasia of the earlobes (HP:0009906)1.97497053
76Heterotopia (HP:0002282)1.96005126
77Shallow orbits (HP:0000586)1.95401469
78Overlapping toe (HP:0001845)1.94874122
79Reticulocytopenia (HP:0001896)1.94492694
80Glioma (HP:0009733)1.93479517
81Abnormality of the fetal cardiovascular system (HP:0010948)1.92073214
82Abnormal umbilical cord blood vessels (HP:0011403)1.92073214
83Single umbilical artery (HP:0001195)1.92073214
84Basal cell carcinoma (HP:0002671)1.90252583
85Shawl scrotum (HP:0000049)1.89881685
86Skull defect (HP:0001362)1.89650997
87Abnormal number of incisors (HP:0011064)1.88995486
88Microtia (HP:0008551)1.87288882
89Neoplasm of the colon (HP:0100273)1.87258109
90Clubbing of toes (HP:0100760)1.85090927
91Abnormal auditory evoked potentials (HP:0006958)1.83578451
92Ankle contracture (HP:0006466)1.83117409
93Duplicated collecting system (HP:0000081)1.81476686
94Wrist flexion contracture (HP:0001239)1.81062187
95Broad phalanges of the hand (HP:0009768)1.80477831
96Hereditary nonpolyposis colorectal carcinoma (HP:0006716)1.79696306
97Trigonocephaly (HP:0000243)1.79686277
98Truncal obesity (HP:0001956)1.76416040
99Premature ovarian failure (HP:0008209)1.75285551
100Ovarian neoplasm (HP:0100615)1.72790123
101Intestinal atresia (HP:0011100)1.72576152
102Uterine neoplasm (HP:0010784)1.72272776
103Broad palm (HP:0001169)1.71485243
104Horseshoe kidney (HP:0000085)1.70665603
105Sparse lateral eyebrow (HP:0005338)1.69557764
106Blepharitis (HP:0000498)1.69194703
107Neoplasm of the pancreas (HP:0002894)1.68987143
108Abnormality of the renal collecting system (HP:0004742)1.68625079
109Absent thumb (HP:0009777)1.68010530
110Lip pit (HP:0100267)1.67339921
111Obsessive-compulsive behavior (HP:0000722)1.66631963
112Abnormality of cochlea (HP:0000375)1.66570675
113Squamous cell carcinoma (HP:0002860)1.66316083
114Intestinal polyp (HP:0005266)1.66204120
115Abnormality of the proximal phalanges of the hand (HP:0009834)1.65894157
116Hypopigmentation of the fundus (HP:0007894)1.65569618
117Abnormality of the phalanges of the hallux (HP:0010057)1.65388440
118Abnormality of abdominal situs (HP:0011620)1.64670023
119Abdominal situs inversus (HP:0003363)1.64670023
120Bifid tongue (HP:0010297)1.63637106
121Small hand (HP:0200055)1.61479752
122Abnormality of the calcaneus (HP:0008364)1.58803936
123Abnormal foot bone ossification (HP:0010675)1.57259070
124Facial cleft (HP:0002006)1.56635892
125Abnormality of DNA repair (HP:0003254)1.55533685
126Facial asymmetry (HP:0000324)1.55309014
127Leiomyosarcoma (HP:0100243)1.54967802
128Uterine leiomyosarcoma (HP:0002891)1.54967802
129Abnormality of the umbilical cord (HP:0010881)1.53306422
130Short middle phalanx of the 5th finger (HP:0004220)1.49900221
131Bone marrow hypocellularity (HP:0005528)1.49289688
132Capillary hemangiomas (HP:0005306)1.47075217

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CDC75.00999941
2TTK3.81542965
3NEK23.64882564
4CDK123.52087807
5BUB13.25040092
6WEE12.92644731
7PBK2.69156078
8EEF2K2.56377364
9PLK42.54437705
10LATS12.40921128
11CHEK22.30182354
12PLK12.22997816
13STK102.22446851
14AURKB2.12119219
15BRSK22.02799654
16NEK11.94084870
17SRPK11.91355524
18MAP3K81.78544559
19ATR1.72311132
20PLK31.71786759
21STK31.68228150
22ACVR1B1.67352709
23TAOK31.67099205
24MAP3K61.60979584
25MELK1.57038494
26STK41.55191886
27CDK41.54526592
28TLK11.53399910
29CHEK11.52568101
30RPS6KB21.52557089
31BRD41.48901574
32TAF11.47463692
33MKNK11.37752254
34CDK61.36679703
35ATM1.34297814
36EIF2AK11.33178780
37BRAF1.32094929
38CDK71.31800332
39EIF2AK31.30067805
40RPS6KA41.29078819
41MAP3K101.23823733
42CDK91.15999614
43BRSK11.14909902
44AURKA1.09772343
45MKNK21.09107106
46LATS21.07487814
47VRK11.02025485
48ZAK1.01401442
49CDK20.98793712
50PKN20.98505114
51STK38L0.93491049
52CDK10.92577466
53DYRK30.92335367
54PASK0.92258596
55PNCK0.88495268
56MST1R0.80957330
57ERBB40.77529021
58ERBB30.76878286
59CDK80.75006610
60MTOR0.74536082
61MOS0.74164339
62BMPR1B0.74079194
63SCYL20.72522656
64TRIM280.72195240
65TGFBR10.72141232
66PIM10.71464132
67TTN0.64294497
68VRK20.64083174
69MET0.63527428
70SMG10.59024731
71LRRK20.58771752
72RPS6KA50.56340848
73TSSK60.54367944
74CSNK1D0.51133401
75EPHA20.50819597
76CCNB10.50022017
77PAK40.49603911
78PRKDC0.49249647
79CDK30.48921545
80ALK0.47922141
81PLK20.47305761
82MAPK140.46485272
83TESK20.45516618
84AKT10.42644480
85CLK10.40196476
86KSR10.39906641
87TNIK0.38136890
88NEK90.37912005
89NUAK10.37791267
90EIF2AK20.37723651
91PDK20.37642162
92CAMK1D0.37377412
93TRPM70.35439933
94MST40.35001581
95FLT30.34290652
96PAK10.33912992
97CDK180.33576549
98RAF10.33294338
99CSNK1E0.33136036
100CDK150.32482505
101MAPK10.32369946
102FGFR10.31748883
103GSK3B0.31470071
104MAPKAPK30.30875950
105ICK0.30862798
106YES10.30464515
107WNK30.30385088
108CSNK1G10.29625095
109CDK11A0.28938961
110CSNK2A20.28840773
111CSNK2A10.28110694
112NEK60.27992025
113CHUK0.27468461
114KSR20.27086964
115NLK0.26590737
116BCR0.26373943
117AKT20.26263477
118PDGFRA0.24021874
119STK390.22670465
120DMPK0.22040367
121MARK30.21603206
122CDK140.21572500
123CSNK1A1L0.21186805
124PRKAA10.20515259
125RPS6KA10.17938594
126CAMK1G0.16966250

Predicted pathways (KEGG)

RankGene SetZ-score
1Cell cycle_Homo sapiens_hsa041103.95160504
2DNA replication_Homo sapiens_hsa030303.91919493
3Mismatch repair_Homo sapiens_hsa034303.62910992
4Homologous recombination_Homo sapiens_hsa034403.01088565
5Fanconi anemia pathway_Homo sapiens_hsa034602.99120189
6RNA transport_Homo sapiens_hsa030132.97854306
7Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.83733575
8Base excision repair_Homo sapiens_hsa034102.83595415
9Non-homologous end-joining_Homo sapiens_hsa034502.80524276
10Systemic lupus erythematosus_Homo sapiens_hsa053222.64878357
11Spliceosome_Homo sapiens_hsa030402.52134960
12Nucleotide excision repair_Homo sapiens_hsa034202.43853680
13RNA degradation_Homo sapiens_hsa030182.30962519
14Basal transcription factors_Homo sapiens_hsa030222.22537494
15p53 signaling pathway_Homo sapiens_hsa041152.19599490
16mRNA surveillance pathway_Homo sapiens_hsa030152.12209221
17One carbon pool by folate_Homo sapiens_hsa006702.10480737
18Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.94261989
19Oocyte meiosis_Homo sapiens_hsa041141.79920773
20MicroRNAs in cancer_Homo sapiens_hsa052061.78890817
21Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.61155762
22Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.60012535
23Viral carcinogenesis_Homo sapiens_hsa052031.55311207
24RNA polymerase_Homo sapiens_hsa030201.36984437
25Alcoholism_Homo sapiens_hsa050341.27554416
26Colorectal cancer_Homo sapiens_hsa052101.25514719
27TGF-beta signaling pathway_Homo sapiens_hsa043501.24901797
28Small cell lung cancer_Homo sapiens_hsa052221.22278179
29Pyrimidine metabolism_Homo sapiens_hsa002401.18877581
30HTLV-I infection_Homo sapiens_hsa051661.17413044
31Transcriptional misregulation in cancer_Homo sapiens_hsa052021.15340063
32Pancreatic cancer_Homo sapiens_hsa052121.08713450
33Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.07991135
34Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.07027696
35Herpes simplex infection_Homo sapiens_hsa051681.06391807
36Chronic myeloid leukemia_Homo sapiens_hsa052201.03268046
37Lysine degradation_Homo sapiens_hsa003101.02102241
38Adherens junction_Homo sapiens_hsa045201.01410140
39Hippo signaling pathway_Homo sapiens_hsa043901.01002362
40Biosynthesis of amino acids_Homo sapiens_hsa012300.97219152
41Epstein-Barr virus infection_Homo sapiens_hsa051690.97188918
42Thyroid cancer_Homo sapiens_hsa052160.94794626
43Basal cell carcinoma_Homo sapiens_hsa052170.94364743
44Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.91824159
45mTOR signaling pathway_Homo sapiens_hsa041500.90308430
46Steroid biosynthesis_Homo sapiens_hsa001000.87493020
47Pyruvate metabolism_Homo sapiens_hsa006200.86463786
48Dorso-ventral axis formation_Homo sapiens_hsa043200.83453729
49Ribosome_Homo sapiens_hsa030100.80393239
50Notch signaling pathway_Homo sapiens_hsa043300.79035720
51Protein export_Homo sapiens_hsa030600.76194113
52Antigen processing and presentation_Homo sapiens_hsa046120.74024175
53Prostate cancer_Homo sapiens_hsa052150.73944032
54FoxO signaling pathway_Homo sapiens_hsa040680.72798473
55Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.72206207
56Non-small cell lung cancer_Homo sapiens_hsa052230.70830012
57Hepatitis B_Homo sapiens_hsa051610.70085251
58Viral myocarditis_Homo sapiens_hsa054160.69029465
59Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.68614024
60Endometrial cancer_Homo sapiens_hsa052130.66308346
61Pathways in cancer_Homo sapiens_hsa052000.66024264
62Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.65090668
63Folate biosynthesis_Homo sapiens_hsa007900.64707722
64Hedgehog signaling pathway_Homo sapiens_hsa043400.64360141
65Bladder cancer_Homo sapiens_hsa052190.64218321
662-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.60087240
67Apoptosis_Homo sapiens_hsa042100.58424786
68Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.58104424
69NOD-like receptor signaling pathway_Homo sapiens_hsa046210.57699811
70Proteoglycans in cancer_Homo sapiens_hsa052050.57367547
71Purine metabolism_Homo sapiens_hsa002300.56115824
72Thyroid hormone signaling pathway_Homo sapiens_hsa049190.56035087
73Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.54946441
74N-Glycan biosynthesis_Homo sapiens_hsa005100.53814874
75Carbon metabolism_Homo sapiens_hsa012000.53550502
76Wnt signaling pathway_Homo sapiens_hsa043100.53374167
77Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.53090686
78Selenocompound metabolism_Homo sapiens_hsa004500.50653883
79Propanoate metabolism_Homo sapiens_hsa006400.50282791
80Ovarian steroidogenesis_Homo sapiens_hsa049130.48777184
81Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.47462106
82Melanoma_Homo sapiens_hsa052180.47200116
83Vitamin B6 metabolism_Homo sapiens_hsa007500.46364429
84Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.44888173
85Central carbon metabolism in cancer_Homo sapiens_hsa052300.44633754
86Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.44608769
87Shigellosis_Homo sapiens_hsa051310.42951567
88Regulation of actin cytoskeleton_Homo sapiens_hsa048100.41361542
89Renal cell carcinoma_Homo sapiens_hsa052110.41020133
90Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.40584764
91Cysteine and methionine metabolism_Homo sapiens_hsa002700.40195084
92Proteasome_Homo sapiens_hsa030500.39862207
93Focal adhesion_Homo sapiens_hsa045100.39723201
94Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.38235773
95Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.37813506
96Glioma_Homo sapiens_hsa052140.37169848
97Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.36431557
98Primary immunodeficiency_Homo sapiens_hsa053400.36120303
99Tight junction_Homo sapiens_hsa045300.34692681
100NF-kappa B signaling pathway_Homo sapiens_hsa040640.34494024
101Pentose phosphate pathway_Homo sapiens_hsa000300.34025765
102Prolactin signaling pathway_Homo sapiens_hsa049170.33670155
103Leukocyte transendothelial migration_Homo sapiens_hsa046700.32316681
104ECM-receptor interaction_Homo sapiens_hsa045120.32251673
105HIF-1 signaling pathway_Homo sapiens_hsa040660.32121178
106Influenza A_Homo sapiens_hsa051640.31272971
107Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.29692691
108B cell receptor signaling pathway_Homo sapiens_hsa046620.29597706
109PI3K-Akt signaling pathway_Homo sapiens_hsa041510.29315343
110Platelet activation_Homo sapiens_hsa046110.27252825
111VEGF signaling pathway_Homo sapiens_hsa043700.27109835
112Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.27069874
113Toxoplasmosis_Homo sapiens_hsa051450.25997399
114Acute myeloid leukemia_Homo sapiens_hsa052210.25305520
115Measles_Homo sapiens_hsa051620.24292462
116Neurotrophin signaling pathway_Homo sapiens_hsa047220.23810109
117AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.22892038
118AMPK signaling pathway_Homo sapiens_hsa041520.22833308
119Hematopoietic cell lineage_Homo sapiens_hsa046400.21499396
120Longevity regulating pathway - mammal_Homo sapiens_hsa042110.20672279
121Melanogenesis_Homo sapiens_hsa049160.19228074
122Glutathione metabolism_Homo sapiens_hsa004800.19182890
123Fatty acid elongation_Homo sapiens_hsa000620.18280708
124Choline metabolism in cancer_Homo sapiens_hsa052310.17560381
125Gap junction_Homo sapiens_hsa045400.17109545
126Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.15267410
127Fatty acid biosynthesis_Homo sapiens_hsa000610.13252071
128Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.12849382
129Fatty acid metabolism_Homo sapiens_hsa012120.12841971
130Inositol phosphate metabolism_Homo sapiens_hsa005620.12766844
131Huntingtons disease_Homo sapiens_hsa050160.11280876
132Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.10968738
133Metabolic pathways_Homo sapiens_hsa011000.10118636

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