NUP133

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 nuclear envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells. It consists of two concentric membranes perforated by nuclear pores, large protein complexes that form aqueous channels to regulate the flow of macromolecules between the nucleus and the cytoplasm. These complexes are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. The nucleoporin protein encoded by this gene displays evolutionarily conserved interactions with other nucleoporins. This protein, which localizes to both sides of the nuclear pore complex at interphase, remains associated with the complex during mitosis and is targeted at early stages to the reforming nuclear envelope. This protein also localizes to kinetochores of mitotic cells. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1nuclear pore complex assembly (GO:0051292)5.21096123
2DNA unwinding involved in DNA replication (GO:0006268)5.11186918
3* nuclear pore organization (GO:0006999)5.08340876
4protein localization to kinetochore (GO:0034501)4.78209753
5DNA replication initiation (GO:0006270)4.75925429
6DNA replication-dependent nucleosome assembly (GO:0006335)4.63909717
7DNA replication-dependent nucleosome organization (GO:0034723)4.63909717
8DNA strand elongation involved in DNA replication (GO:0006271)4.59298152
9DNA strand elongation (GO:0022616)4.37232181
10* mitotic nuclear envelope disassembly (GO:0007077)4.30901006
11mitotic metaphase plate congression (GO:0007080)4.30674445
12IMP biosynthetic process (GO:0006188)4.16802417
13DNA replication checkpoint (GO:0000076)4.14892588
14mitotic sister chromatid segregation (GO:0000070)4.13878204
15nucleobase biosynthetic process (GO:0046112)4.13766706
16telomere maintenance via semi-conservative replication (GO:0032201)4.12734134
17protein localization to chromosome, centromeric region (GO:0071459)4.10642932
18folic acid-containing compound biosynthetic process (GO:0009396)4.04719870
19pore complex assembly (GO:0046931)4.01549145
20* membrane disassembly (GO:0030397)4.00136239
21* nuclear envelope disassembly (GO:0051081)4.00136239
22sister chromatid segregation (GO:0000819)3.92165710
23metaphase plate congression (GO:0051310)3.86452020
24mitotic chromosome condensation (GO:0007076)3.82240303
25chromatin remodeling at centromere (GO:0031055)3.79949717
26regulation of gene silencing by RNA (GO:0060966)3.79403769
27regulation of posttranscriptional gene silencing (GO:0060147)3.79403769
28regulation of gene silencing by miRNA (GO:0060964)3.79403769
29kinetochore organization (GO:0051383)3.76170909
30heterochromatin organization (GO:0070828)3.76017619
31purine nucleobase biosynthetic process (GO:0009113)3.75769634
32regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.74584555
33telomere maintenance via recombination (GO:0000722)3.71463515
34attachment of spindle microtubules to kinetochore (GO:0008608)3.71093106
35mitotic recombination (GO:0006312)3.69864400
36formation of translation preinitiation complex (GO:0001731)3.69213965
37DNA duplex unwinding (GO:0032508)3.68785146
38DNA geometric change (GO:0032392)3.68583379
39CENP-A containing nucleosome assembly (GO:0034080)3.66360921
40positive regulation of chromosome segregation (GO:0051984)3.64831007
41regulation of spindle organization (GO:0090224)3.62808133
42DNA replication-independent nucleosome organization (GO:0034724)3.58401918
43DNA replication-independent nucleosome assembly (GO:0006336)3.58401918
44regulation of histone H3-K9 methylation (GO:0051570)3.58241142
45IMP metabolic process (GO:0046040)3.56324800
46regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)3.55529330
47negative regulation of chromosome segregation (GO:0051985)3.54811034
48pre-miRNA processing (GO:0031054)3.52533111
49regulation of helicase activity (GO:0051095)3.50635620
50telomere maintenance via telomere lengthening (GO:0010833)3.49275711
51regulation of chromosome segregation (GO:0051983)3.49213577
52somatic diversification of immune receptors via somatic mutation (GO:0002566)3.48892402
53somatic hypermutation of immunoglobulin genes (GO:0016446)3.48892402
54ribosome assembly (GO:0042255)3.48855671
55double-strand break repair via nonhomologous end joining (GO:0006303)3.48522050
56non-recombinational repair (GO:0000726)3.48522050
57mitotic sister chromatid cohesion (GO:0007064)3.48076148
58negative regulation of mitotic metaphase/anaphase transition (GO:0045841)3.47772850
59negative regulation of sister chromatid segregation (GO:0033046)3.47772850
60negative regulation of mitotic sister chromatid separation (GO:2000816)3.47772850
61negative regulation of mitotic sister chromatid segregation (GO:0033048)3.47772850
62spindle assembly checkpoint (GO:0071173)3.47602813
63spindle checkpoint (GO:0031577)3.46322768
64regulation of centrosome cycle (GO:0046605)3.45526806
65mitotic spindle assembly checkpoint (GO:0007094)3.43087122
66nucleotide-excision repair, DNA gap filling (GO:0006297)3.41275215
67establishment of chromosome localization (GO:0051303)3.40821667
68mitotic spindle checkpoint (GO:0071174)3.38999380
69regulation of mitotic metaphase/anaphase transition (GO:0030071)3.38983992
70ribosome biogenesis (GO:0042254)3.38024482
71negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)3.36001389
72kinetochore assembly (GO:0051382)3.35777598
73histone exchange (GO:0043486)3.34466799
74dosage compensation (GO:0007549)3.32101381
75maturation of SSU-rRNA (GO:0030490)3.30461873
76regulation of metaphase/anaphase transition of cell cycle (GO:1902099)3.30087609
77protein K6-linked ubiquitination (GO:0085020)3.28368896
78regulation of sister chromatid segregation (GO:0033045)3.26520063
79regulation of mitotic sister chromatid separation (GO:0010965)3.26520063
80regulation of mitotic sister chromatid segregation (GO:0033047)3.26520063
81positive regulation of mitotic sister chromatid separation (GO:1901970)3.26383657
82positive regulation of mitotic metaphase/anaphase transition (GO:0045842)3.26383657
83positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)3.26383657
84chromatin assembly or disassembly (GO:0006333)3.25764459
85regulation of centriole replication (GO:0046599)3.24055778
86negative regulation of histone methylation (GO:0031061)3.23512078
87regulation of mitotic spindle organization (GO:0060236)3.21423032
88protein localization to chromosome (GO:0034502)3.20953772
89meiotic chromosome segregation (GO:0045132)3.20546844
90establishment of integrated proviral latency (GO:0075713)3.20230637
91regulation of sister chromatid cohesion (GO:0007063)3.19460846
92DNA topological change (GO:0006265)3.12347745
93peptidyl-arginine omega-N-methylation (GO:0035247)3.11235029
94chromatin assembly (GO:0031497)3.08158845
95ribosomal large subunit biogenesis (GO:0042273)3.08135622
96DNA conformation change (GO:0071103)3.07930215
97regulation of translational fidelity (GO:0006450)3.06728303
98translesion synthesis (GO:0019985)3.06380314
99* nuclear envelope organization (GO:0006998)3.06119380
100regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450913.05946242
101mismatch repair (GO:0006298)3.05318995
102postreplication repair (GO:0006301)3.03970288
103spliceosomal snRNP assembly (GO:0000387)3.03958847
104chromosome segregation (GO:0007059)3.02484104
105chromosome condensation (GO:0030261)3.01824344
106negative regulation of mRNA splicing, via spliceosome (GO:0048025)3.00630724
107regulation of DNA endoreduplication (GO:0032875)2.99871350
108protein complex localization (GO:0031503)2.99751998
109positive regulation of cell cycle checkpoint (GO:1901978)2.96991997
110regulation of RNA export from nucleus (GO:0046831)2.94497598
111maturation of 5.8S rRNA (GO:0000460)2.94202617
112positive regulation of histone H3-K4 methylation (GO:0051571)2.87110821
113DNA ligation (GO:0006266)2.83981861
114DNA synthesis involved in DNA repair (GO:0000731)2.82611273
115ATP-dependent chromatin remodeling (GO:0043044)2.82337255

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXM1_23109430_ChIP-Seq_U2OS_Human5.21896273
2E2F4_17652178_ChIP-ChIP_JURKAT_Human4.25009919
3MYC_18555785_ChIP-Seq_MESCs_Mouse4.22426652
4FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human3.41931960
5EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.17218456
6MYC_19079543_ChIP-ChIP_MESCs_Mouse3.15177715
7* MYC_19030024_ChIP-ChIP_MESCs_Mouse2.81351356
8MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.79197413
9* MYC_18358816_ChIP-ChIP_MESCs_Mouse2.54619562
10* KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.50480614
11NELFA_20434984_ChIP-Seq_ESCs_Mouse2.42555212
12KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.41019492
13EGR1_19374776_ChIP-ChIP_THP-1_Human2.40683703
14EST1_17652178_ChIP-ChIP_JURKAT_Human2.40495831
15AR_21909140_ChIP-Seq_LNCAP_Human2.37113059
16ETS1_20019798_ChIP-Seq_JURKAT_Human2.30831442
17E2F1_21310950_ChIP-Seq_MCF-7_Human2.28183313
18MYBL2_22936984_ChIP-ChIP_MESCs_Mouse2.23236623
19CREB1_15753290_ChIP-ChIP_HEK293T_Human2.22070138
20* XRN2_22483619_ChIP-Seq_HELA_Human2.19610608
21HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.13751860
22* JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.11346615
23CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.09253694
24GABP_17652178_ChIP-ChIP_JURKAT_Human2.04593756
25E2F7_22180533_ChIP-Seq_HELA_Human10.2842922
26* MYCN_18555785_ChIP-Seq_MESCs_Mouse1.98654569
27* POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.96035209
28SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.95862559
29* NANOG_18555785_ChIP-Seq_MESCs_Mouse1.87791009
30* VDR_23849224_ChIP-Seq_CD4+_Human1.83255468
31* E2F1_18555785_ChIP-Seq_MESCs_Mouse1.79413318
32PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.75186030
33YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.74796187
34FOXP3_21729870_ChIP-Seq_TREG_Human1.70284579
35* THAP11_20581084_ChIP-Seq_MESCs_Mouse1.70066349
36TTF2_22483619_ChIP-Seq_HELA_Human1.67688372
37POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.66145831
38DCP1A_22483619_ChIP-Seq_HELA_Human1.65564164
39PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.65330376
40KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.62763757
41KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.62763757
42KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.62763757
43SALL1_21062744_ChIP-ChIP_HESCs_Human1.61534267
44GABP_19822575_ChIP-Seq_HepG2_Human1.57777839
45SOX2_18555785_ChIP-Seq_MESCs_Mouse1.57170660
46MYC_22102868_ChIP-Seq_BL_Human1.54838270
47CIITA_25753668_ChIP-Seq_RAJI_Human1.52363044
48TP63_19390658_ChIP-ChIP_HaCaT_Human1.51321052
49ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.50982619
50ZFX_18555785_ChIP-Seq_MESCs_Mouse1.49842229
51EWS_26573619_Chip-Seq_HEK293_Human1.48348476
52* KDM5A_27292631_Chip-Seq_BREAST_Human1.47185907
53POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.46541843
54MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.40018614
55STAT3_1855785_ChIP-Seq_MESCs_Mouse1.38197103
56ELK1_19687146_ChIP-ChIP_HELA_Human1.35434941
57YY1_21170310_ChIP-Seq_MESCs_Mouse1.32615965
58* CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.29434863
59NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.29156165
60HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.28964056
61FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.28230008
62KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.24969419
63* KLF4_18555785_ChIP-Seq_MESCs_Mouse1.23721897
64ELF1_17652178_ChIP-ChIP_JURKAT_Human1.22221343
65RBPJ_22232070_ChIP-Seq_NCS_Mouse1.22160717
66* FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.22059618
67TCF3_18692474_ChIP-Seq_MEFs_Mouse1.20046920
68ESR1_15608294_ChIP-ChIP_MCF-7_Human1.19843660
69* FUS_26573619_Chip-Seq_HEK293_Human1.19371618
70TFEB_21752829_ChIP-Seq_HELA_Human1.18891775
71TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.17163827
72* CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.16465252
73ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.15779298
74PADI4_21655091_ChIP-ChIP_MCF-7_Human1.14933744
75* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.13181984
76* E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.11992972
77NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.11686018
78SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.11589005
79HOXB4_20404135_ChIP-ChIP_EML_Mouse1.11374564
80ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.09415932
81TCF3_18692474_ChIP-Seq_MESCs_Mouse1.08925178
82E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.08010577
83NANOG_21062744_ChIP-ChIP_HESCs_Human1.06646530
84DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.06181811
85KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.05313953
86SOX17_20123909_ChIP-Seq_XEN_Mouse1.05240947
87DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.05187333
88BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.03039658
89POU5F1_16153702_ChIP-ChIP_HESCs_Human1.02766500
90CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.00976552
91NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.99910653
92ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.99802692
93SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.99672175
94HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.98289321
95SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.97931242
96ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.97759140
97HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.95644205
98TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.93074870
99SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.92707956
100SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.91835995
101NOTCH1_21737748_ChIP-Seq_TLL_Human0.91689503
102* CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.91587162
103ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.91373743
104NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.91134403
105CHD1_26751641_Chip-Seq_LNCaP_Human0.89273453
106ERG_20887958_ChIP-Seq_HPC-7_Mouse0.87690419
107SOX2_18358816_ChIP-ChIP_MESCs_Mouse0.87686368
108SOX2_18692474_ChIP-Seq_MESCs_Mouse0.87139669
109MYC_18940864_ChIP-ChIP_HL60_Human0.86914230
110SOX2_16153702_ChIP-ChIP_HESCs_Human0.85795264
111* FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human0.85366977
112IGF1R_20145208_ChIP-Seq_DFB_Human0.84754928
113WT1_19549856_ChIP-ChIP_CCG9911_Human0.83405205
114NANOG_16153702_ChIP-ChIP_HESCs_Human0.82158975
115TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.80818218
116CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.79990215
117PKCTHETA_26484144_Chip-Seq_BREAST_Human0.75878876
118GATA1_26923725_Chip-Seq_HPCs_Mouse0.74699547
119SRF_21415370_ChIP-Seq_HL-1_Mouse0.73894509

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0010094_abnormal_chromosome_stability4.86566556
2MP0003111_abnormal_nucleus_morphology4.71708748
3MP0003693_abnormal_embryo_hatching4.60629601
4MP0004957_abnormal_blastocyst_morpholog4.22896854
5MP0008057_abnormal_DNA_replication4.10514138
6MP0003077_abnormal_cell_cycle3.96257986
7MP0008058_abnormal_DNA_repair3.36704938
8MP0008877_abnormal_DNA_methylation3.35625720
9MP0003123_paternal_imprinting2.87607949
10MP0008007_abnormal_cellular_replicative2.66908260
11MP0008932_abnormal_embryonic_tissue2.63880757
12* MP0001730_embryonic_growth_arrest2.59516692
13MP0010352_gastrointestinal_tract_polyps2.56866227
14MP0000350_abnormal_cell_proliferation2.41214205
15MP0010307_abnormal_tumor_latency2.40730511
16MP0002009_preneoplasia2.16609570
17MP0003786_premature_aging2.12014121
18MP0010234_abnormal_vibrissa_follicle2.04456502
19MP0010030_abnormal_orbit_morphology1.99689770
20* MP0005380_embryogenesis_phenotype1.99500579
21* MP0001672_abnormal_embryogenesis/_devel1.99500579
22MP0001697_abnormal_embryo_size1.91904081
23MP0003121_genomic_imprinting1.89693840
24* MP0002085_abnormal_embryonic_tissue1.86483959
25MP0009697_abnormal_copulation1.83923984
26* MP0002084_abnormal_developmental_patter1.82167567
27MP0003890_abnormal_embryonic-extraembry1.79339609
28MP0004197_abnormal_fetal_growth/weight/1.79297418
29MP0005076_abnormal_cell_differentiation1.78728497
30* MP0003984_embryonic_growth_retardation1.74229980
31* MP0002088_abnormal_embryonic_growth/wei1.70090595
32* MP0002080_prenatal_lethality1.67812193
33MP0001293_anophthalmia1.61946283
34MP0002086_abnormal_extraembryonic_tissu1.60496986
35MP0002210_abnormal_sex_determination1.57386958
36MP0000537_abnormal_urethra_morphology1.56585589
37MP0002396_abnormal_hematopoietic_system1.55804796
38MP0002234_abnormal_pharynx_morphology1.54653683
39MP0005187_abnormal_penis_morphology1.46517399
40MP0003567_abnormal_fetal_cardiomyocyte1.42366225
41MP0003119_abnormal_digestive_system1.42085319
42MP0001145_abnormal_male_reproductive1.38270865
43MP0000313_abnormal_cell_death1.36049761
44MP0002653_abnormal_ependyma_morphology1.35840480
45MP0001346_abnormal_lacrimal_gland1.34445780
46MP0009053_abnormal_anal_canal1.34057095
47MP0003718_maternal_effect1.28974723
48MP0001929_abnormal_gametogenesis1.26760537
49MP0000490_abnormal_crypts_of1.24228963
50MP0004133_heterotaxia1.23917098
51MP0003937_abnormal_limbs/digits/tail_de1.22992932
52MP0006292_abnormal_olfactory_placode1.22185977
53MP0002233_abnormal_nose_morphology1.19942987
54MP0003705_abnormal_hypodermis_morpholog1.18428527
55MP0003315_abnormal_perineum_morphology1.17169319
56MP0004808_abnormal_hematopoietic_stem1.16577919
57MP0000653_abnormal_sex_gland1.12483366
58MP0002019_abnormal_tumor_incidence1.12466549
59MP0003941_abnormal_skin_development1.09986913
60MP0000428_abnormal_craniofacial_morphol1.08527247
61MP0009672_abnormal_birth_weight1.07615432
62MP0001661_extended_life_span1.06701903
63MP0002111_abnormal_tail_morphology1.04589728
64MP0009703_decreased_birth_body1.00755059
65MP0002092_abnormal_eye_morphology0.93921385
66MP0006035_abnormal_mitochondrial_morpho0.91708596
67MP0002160_abnormal_reproductive_system0.91394922
68MP0008995_early_reproductive_senescence0.89432840
69MP0002102_abnormal_ear_morphology0.88567281
70MP0010678_abnormal_skin_adnexa0.88099425
71MP0003787_abnormal_imprinting0.86997246
72MP0001529_abnormal_vocalization0.86315146
73MP0003385_abnormal_body_wall0.86103562
74MP0003698_abnormal_male_reproductive0.84891832
75MP0004233_abnormal_muscle_weight0.83953840
76MP0002877_abnormal_melanocyte_morpholog0.83743736
77* MP0003861_abnormal_nervous_system0.83727536
78MP0002269_muscular_atrophy0.83124466
79MP0002697_abnormal_eye_size0.82355650
80MP0001286_abnormal_eye_development0.82075660
81MP0005384_cellular_phenotype0.80026367
82MP0003136_yellow_coat_color0.79988237
83MP0005395_other_phenotype0.79737333
84MP0000432_abnormal_head_morphology0.79330074
85MP0000703_abnormal_thymus_morphology0.78455803
86MP0003699_abnormal_female_reproductive0.78372647
87MP0001849_ear_inflammation0.77810811
88MP0001915_intracranial_hemorrhage0.77514391
89MP0000733_abnormal_muscle_development0.77370068
90MP0005621_abnormal_cell_physiology0.76318194
91MP0005391_vision/eye_phenotype0.75166185
92MP0003806_abnormal_nucleotide_metabolis0.75009847
93MP0006072_abnormal_retinal_apoptosis0.74382792
94MP0000631_abnormal_neuroendocrine_gland0.73756004
95MP0003115_abnormal_respiratory_system0.73662173
96MP0000647_abnormal_sebaceous_gland0.72369799
97MP0000566_synostosis0.71946823
98MP0003935_abnormal_craniofacial_develop0.71820380
99MP0001119_abnormal_female_reproductive0.70337824
100MP0000762_abnormal_tongue_morphology0.69834868
101MP0003942_abnormal_urinary_system0.69508650
102MP0005389_reproductive_system_phenotype0.69466807
103MP0003283_abnormal_digestive_organ0.67821806
104MP0001299_abnormal_eye_distance/0.67140969
105MP0002081_perinatal_lethality0.66371237
106MP0000358_abnormal_cell_content/0.65695544
107MP0004185_abnormal_adipocyte_glucose0.65576764
108MP0002075_abnormal_coat/hair_pigmentati0.65330997
109MP0002751_abnormal_autonomic_nervous0.65206133
110MP0003755_abnormal_palate_morphology0.65195851
111MP0002161_abnormal_fertility/fecundity0.64838838
112MP0000049_abnormal_middle_ear0.63962845
113MP0003566_abnormal_cell_adhesion0.63376752
114MP0002925_abnormal_cardiovascular_devel0.61972571
115MP0002938_white_spotting0.61950587
116MP0002114_abnormal_axial_skeleton0.61012704
117MP0003221_abnormal_cardiomyocyte_apopto0.60098412
118MP0008789_abnormal_olfactory_epithelium0.59753837
119MP0009278_abnormal_bone_marrow0.56917534
120MP0005397_hematopoietic_system_phenotyp0.56112132
121MP0001545_abnormal_hematopoietic_system0.56112132
122MP0003936_abnormal_reproductive_system0.55884513
123MP0008770_decreased_survivor_rate0.55068766
124MP0005623_abnormal_meninges_morphology0.55030629
125MP0005023_abnormal_wound_healing0.53830784
126MP0002116_abnormal_craniofacial_bone0.53183104
127MP0005377_hearing/vestibular/ear_phenot0.53179488
128MP0003878_abnormal_ear_physiology0.53179488
129MP0000516_abnormal_urinary_system0.53163507

Predicted human phenotypes

RankGene SetZ-score
1Ependymoma (HP:0002888)4.55400203
2Chromsome breakage (HP:0040012)4.30832285
3Chromosomal breakage induced by crosslinking agents (HP:0003221)4.19394321
4Birth length less than 3rd percentile (HP:0003561)4.03055821
5Medulloblastoma (HP:0002885)3.91361002
6Abnormality of the labia minora (HP:0012880)3.71453602
7Selective tooth agenesis (HP:0001592)3.54957888
8Colon cancer (HP:0003003)3.45960207
9Astrocytoma (HP:0009592)3.37875887
10Abnormality of the astrocytes (HP:0100707)3.37875887
11Agnosia (HP:0010524)3.29145960
12Breast hypoplasia (HP:0003187)3.28588942
13Abnormality of chromosome stability (HP:0003220)3.28514355
14Reticulocytopenia (HP:0001896)3.20322931
15Cortical dysplasia (HP:0002539)3.19459840
16Patellar aplasia (HP:0006443)3.19044038
17Absent radius (HP:0003974)3.18694564
18Impulsivity (HP:0100710)3.16453179
19Rhabdomyosarcoma (HP:0002859)3.09475700
20Meckel diverticulum (HP:0002245)3.06174928
21Glioma (HP:0009733)3.05450420
22Aplasia involving forearm bones (HP:0009822)2.97501869
23Absent forearm bone (HP:0003953)2.97501869
24Aplasia/Hypoplasia of the patella (HP:0006498)2.97201933
25Abnormality of the ileum (HP:0001549)2.94194288
26Ectopic kidney (HP:0000086)2.94068661
27Aplasia/Hypoplasia of the uvula (HP:0010293)2.90905345
28Abnormality of the anterior horn cell (HP:0006802)2.85526186
29Degeneration of anterior horn cells (HP:0002398)2.85526186
30Abnormality of the preputium (HP:0100587)2.79415700
31Increased nuchal translucency (HP:0010880)2.77156007
32Supernumerary spleens (HP:0009799)2.72089411
33Neoplasm of the oral cavity (HP:0100649)2.70249883
34Volvulus (HP:0002580)2.69291722
35Abnormal number of incisors (HP:0011064)2.68274857
36Absent thumb (HP:0009777)2.67694803
37Small intestinal stenosis (HP:0012848)2.66431219
38Duodenal stenosis (HP:0100867)2.66431219
39Neoplasm of striated muscle (HP:0009728)2.61552785
40Proximal placement of thumb (HP:0009623)2.60493116
41Abnormality of DNA repair (HP:0003254)2.57123959
42Deviation of the thumb (HP:0009603)2.51269951
43Oral leukoplakia (HP:0002745)2.50714747
44Carpal bone hypoplasia (HP:0001498)2.46979969
45Duplicated collecting system (HP:0000081)2.43565288
46Sloping forehead (HP:0000340)2.33302783
47Neoplasm of the pancreas (HP:0002894)2.32857559
48Atresia of the external auditory canal (HP:0000413)2.31239838
4911 pairs of ribs (HP:0000878)2.30634616
50Abnormality of chromosome segregation (HP:0002916)2.29689856
51Basal cell carcinoma (HP:0002671)2.29654198
52Myelodysplasia (HP:0002863)2.29170043
53Abnormality of the duodenum (HP:0002246)2.28220846
54Abnormal lung lobation (HP:0002101)2.26864356
55Aplasia/Hypoplasia of the sternum (HP:0006714)2.25180831
56Horseshoe kidney (HP:0000085)2.24763343
57Abnormality of the carotid arteries (HP:0005344)2.23805512
58Missing ribs (HP:0000921)2.22863069
59Abnormality of the renal collecting system (HP:0004742)2.22836804
60Abnormality of abdominal situs (HP:0011620)2.22360538
61Abdominal situs inversus (HP:0003363)2.22360538
62Tracheoesophageal fistula (HP:0002575)2.21246424
63Duplication of thumb phalanx (HP:0009942)2.20666543
64Cafe-au-lait spot (HP:0000957)2.20531871
65Prominent nose (HP:0000448)2.19714235
66Biliary tract neoplasm (HP:0100574)2.18212543
67Deep philtrum (HP:0002002)2.16417382
68Facial hemangioma (HP:0000329)2.14376399
69Aplasia/hypoplasia of the humerus (HP:0006507)2.14037743
70Short 4th metacarpal (HP:0010044)2.12974795
71Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.12974795
72Septate vagina (HP:0001153)2.10487806
73Nephroblastoma (Wilms tumor) (HP:0002667)2.09409681
74Short thumb (HP:0009778)2.07238671
75Rough bone trabeculation (HP:0100670)2.06793252
76Abnormality of cochlea (HP:0000375)2.05046308
77Gastrointestinal atresia (HP:0002589)2.03352397
78Cerebral hypomyelination (HP:0006808)2.02053866
79Embryonal neoplasm (HP:0002898)2.01955230
80Triphalangeal thumb (HP:0001199)1.99879813
81Bone marrow hypocellularity (HP:0005528)1.98311585
82Rib fusion (HP:0000902)1.97563087
83Pelvic girdle muscle weakness (HP:0003749)1.96662343
84Spinal muscular atrophy (HP:0007269)1.96558627
85Premature graying of hair (HP:0002216)1.95614182
86Short humerus (HP:0005792)1.93341066
87Facial cleft (HP:0002006)1.92728147
88Papillary thyroid carcinoma (HP:0002895)1.91183977
89Embryonal renal neoplasm (HP:0011794)1.90840799
90Malignant gastrointestinal tract tumors (HP:0006749)1.90774166
91Gastrointestinal carcinoma (HP:0002672)1.90774166
92Pancreatic islet-cell hyperplasia (HP:0004510)1.88634031
93Clubbing of toes (HP:0100760)1.86526193
94High anterior hairline (HP:0009890)1.86504522
95Aplasia/Hypoplasia involving the carpal bones (HP:0006502)1.86144337
96Esophageal atresia (HP:0002032)1.85713936
97Arteriovenous malformation (HP:0100026)1.85242533
98Supernumerary bones of the axial skeleton (HP:0009144)1.85119753
99Hepatoblastoma (HP:0002884)1.84935211
100Progressive external ophthalmoplegia (HP:0000590)1.83066924
101Squamous cell carcinoma (HP:0002860)1.82915141
102Renal duplication (HP:0000075)1.81904558
103Abnormality of cells of the erythroid lineage (HP:0012130)1.81754643
104Cleft eyelid (HP:0000625)1.81379792
105Intestinal atresia (HP:0011100)1.80840394
106Poikiloderma (HP:0001029)1.80449828
107Amaurosis fugax (HP:0100576)1.80376654
108Oligodactyly (HP:0012165)1.80357752
109Neoplasm of the colon (HP:0100273)1.79834219
110Limb hypertonia (HP:0002509)1.78167215
111Shoulder girdle muscle weakness (HP:0003547)1.78065639
112Skull defect (HP:0001362)1.77480122
113Multiple enchondromatosis (HP:0005701)1.76880538
114Anal stenosis (HP:0002025)1.76149096
115Long eyelashes (HP:0000527)1.75916511
116Overlapping toe (HP:0001845)1.75476205
117Sandal gap (HP:0001852)1.74495712
118Choanal atresia (HP:0000453)1.74371725
119Trismus (HP:0000211)1.74081967
120Supernumerary ribs (HP:0005815)1.73177783
121Rectal fistula (HP:0100590)1.72787816
122Rectovaginal fistula (HP:0000143)1.72787816
123Progressive muscle weakness (HP:0003323)1.71165247
124Microvesicular hepatic steatosis (HP:0001414)1.70434584
125Broad distal phalanx of finger (HP:0009836)1.69454622
126Obsessive-compulsive behavior (HP:0000722)1.68854311
127Lower limb hyperreflexia (HP:0002395)1.67895377
128Reduced antithrombin III activity (HP:0001976)1.65806326
129Abnormality of the phalanges of the hallux (HP:0010057)1.64539409
130Osteomalacia (HP:0002749)1.62982355
131Bifid tongue (HP:0010297)1.61853238
132Short middle phalanx of the 5th finger (HP:0004220)1.61702919
133Oligodactyly (hands) (HP:0001180)1.61503329
134Neoplasm of the adrenal cortex (HP:0100641)1.61233814
135Abnormality of methionine metabolism (HP:0010901)1.59469274
136Capillary hemangiomas (HP:0005306)1.59336942
137Abnormality of the pons (HP:0007361)1.57636736
138Breast carcinoma (HP:0003002)1.54214725
139Hypoplasia of the pons (HP:0012110)1.54084932
140Preaxial hand polydactyly (HP:0001177)1.53855175
141Abnormality of the septum pellucidum (HP:0007375)1.53279837
142Hypoplastic labia majora (HP:0000059)1.51031832
143Thyroid carcinoma (HP:0002890)1.50926786
144Morphological abnormality of the inner ear (HP:0011390)1.50378864
145Homocystinuria (HP:0002156)1.49367264
146Abnormality of homocysteine metabolism (HP:0010919)1.49367264

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CDC74.80660328
2BUB14.28208471
3WEE14.24208291
4CDK123.35588976
5NEK23.21385282
6NEK12.88579007
7TTK2.73844819
8EIF2AK12.73075026
9TSSK62.69042187
10SRPK12.21184790
11PLK12.13025351
12ACVR1B2.10813700
13BRD42.01068933
14BRSK22.00371218
15TLK11.96510617
16ATR1.93389992
17PASK1.93131560
18PLK31.84860222
19EPHA21.82792005
20MKNK11.79791822
21CDK71.79288008
22RPS6KB21.70154870
23AURKB1.68876657
24CHEK21.65397507
25PLK41.62320427
26TRIM281.56808009
27CDK41.56656099
28CHEK11.54612210
29EEF2K1.53211644
30MKNK21.49136387
31TAF11.47457368
32BRSK11.47344124
33PNCK1.36760822
34AURKA1.30449552
35MAP3K81.29785903
36MAP3K91.29511640
37BCR1.28438950
38DYRK31.27193777
39STK101.20406573
40ZAK1.20389316
41STK41.19910687
42CAMK1G1.18366306
43VRK11.18157664
44ALK1.17991606
45PAK41.17726809
46ATM1.17094282
47MAP3K101.15354397
48CSNK1G31.14806204
49MELK1.13552682
50CSNK1A1L1.13258521
51CSNK1G11.13255764
52EIF2AK31.10572916
53SCYL21.10488732
54MAP3K41.08015499
55CAMK1D1.06804624
56* CDK21.06663276
57TGFBR11.03225968
58TESK21.01824218
59RPS6KA40.99642054
60PKN20.95077183
61CDK60.93687120
62CSNK1G20.92683109
63ERBB30.90756722
64STK30.90480834
65SMG10.89858632
66WNK30.87758397
67NEK90.83139411
68CDK10.82414193
69CCNB10.81133588
70STK240.77021049
71MTOR0.75279726
72CDK190.70816901
73PIM10.70185053
74FLT30.70183917
75MAP3K130.69699574
76KSR20.69415510
77NME20.67396533
78PBK0.67343866
79CSNK2A20.66231640
80STK38L0.64212233
81PAK10.62960960
82ICK0.60858727
83LATS10.59003650
84CSNK1D0.56827755
85CSNK1E0.56107254
86CDK80.55756327
87PDK30.54414569
88PDK40.54414569
89CSNK2A10.54068414
90PRKDC0.53904592
91RAF10.53018921
92CASK0.52347818
93RPS6KA50.52262545
94STK160.51672018
95CDK30.51538308
96TNIK0.50351872
97LATS20.50138098
98AKT20.50087245
99CDK180.49250710
100FGFR10.48918960
101ERBB40.48547134
102EIF2AK20.47756919
103CDK150.47001777
104CDK11A0.46392863
105ARAF0.45119487
106NEK60.43706308
107FGFR20.43468478
108PRKCI0.41247936
109CDK140.40770981
110MAP2K70.39887742
111MAPK140.38470585
112CDK90.36862085
113CLK10.36155227
114PDK20.34637656
115AKT30.34314044
116TTN0.33685448
117GSK3B0.32057715
118PAK20.31636272
119AKT10.30878271
120MARK30.30249768
121MAPK10.26806445
122MET0.23538224
123TESK10.23038387
124KSR10.22861786
125RPS6KA10.20445202
126RPS6KB10.19814842
127BRAF0.18995779
128YES10.16525954
129LRRK20.15796468
130MAPK100.15479196
131MAPK90.15267321
132BMX0.15138384

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030305.13475365
2Mismatch repair_Homo sapiens_hsa034304.54237698
3Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.93610787
4* RNA transport_Homo sapiens_hsa030133.45218186
5Spliceosome_Homo sapiens_hsa030403.43942815
6One carbon pool by folate_Homo sapiens_hsa006703.22688574
7Cell cycle_Homo sapiens_hsa041103.13676495
8Homologous recombination_Homo sapiens_hsa034403.10006904
9Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009703.01595449
10Base excision repair_Homo sapiens_hsa034102.97899786
11Nucleotide excision repair_Homo sapiens_hsa034202.95277242
12RNA polymerase_Homo sapiens_hsa030202.76428405
13Fanconi anemia pathway_Homo sapiens_hsa034602.55721635
14Proteasome_Homo sapiens_hsa030502.22705026
15Non-homologous end-joining_Homo sapiens_hsa034502.22422539
16mRNA surveillance pathway_Homo sapiens_hsa030152.21373401
17Ribosome_Homo sapiens_hsa030102.18718941
18Pyrimidine metabolism_Homo sapiens_hsa002402.09141425
19Basal transcription factors_Homo sapiens_hsa030221.97255970
20RNA degradation_Homo sapiens_hsa030181.90633037
21Systemic lupus erythematosus_Homo sapiens_hsa053221.84309140
22Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.59038156
23p53 signaling pathway_Homo sapiens_hsa041151.58576009
24Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.46074447
25Pyruvate metabolism_Homo sapiens_hsa006201.43027171
26Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.42662835
27Oocyte meiosis_Homo sapiens_hsa041141.33619583
28Viral carcinogenesis_Homo sapiens_hsa052031.26487920
29Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.22227299
30Propanoate metabolism_Homo sapiens_hsa006401.20625873
31Epstein-Barr virus infection_Homo sapiens_hsa051691.16839852
32Purine metabolism_Homo sapiens_hsa002301.12615788
33Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.04656890
34Selenocompound metabolism_Homo sapiens_hsa004500.94831407
35MicroRNAs in cancer_Homo sapiens_hsa052060.91911629
36HTLV-I infection_Homo sapiens_hsa051660.91661042
37Herpes simplex infection_Homo sapiens_hsa051680.90574899
38Biosynthesis of amino acids_Homo sapiens_hsa012300.89793752
39Alcoholism_Homo sapiens_hsa050340.88866249
40Steroid biosynthesis_Homo sapiens_hsa001000.88580253
41Basal cell carcinoma_Homo sapiens_hsa052170.87809126
42Hippo signaling pathway_Homo sapiens_hsa043900.82121569
43N-Glycan biosynthesis_Homo sapiens_hsa005100.79677089
44Vitamin B6 metabolism_Homo sapiens_hsa007500.79647004
45Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.77142714
46Antigen processing and presentation_Homo sapiens_hsa046120.76235462
47Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.74055720
48Notch signaling pathway_Homo sapiens_hsa043300.68204517
49Protein export_Homo sapiens_hsa030600.66731033
50Cysteine and methionine metabolism_Homo sapiens_hsa002700.66018745
51Hedgehog signaling pathway_Homo sapiens_hsa043400.65085928
52Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.64649752
53Arginine and proline metabolism_Homo sapiens_hsa003300.63664424
54Pentose phosphate pathway_Homo sapiens_hsa000300.62998456
55Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.62957607
56Thyroid cancer_Homo sapiens_hsa052160.61356622
57Transcriptional misregulation in cancer_Homo sapiens_hsa052020.60566906
58Small cell lung cancer_Homo sapiens_hsa052220.60234859
59TGF-beta signaling pathway_Homo sapiens_hsa043500.59927434
60Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.59768857
61Colorectal cancer_Homo sapiens_hsa052100.58428546
62Cyanoamino acid metabolism_Homo sapiens_hsa004600.56388270
63Central carbon metabolism in cancer_Homo sapiens_hsa052300.53017175
64Fatty acid elongation_Homo sapiens_hsa000620.52672741
65Adherens junction_Homo sapiens_hsa045200.51090617
66Huntingtons disease_Homo sapiens_hsa050160.48518974
67mTOR signaling pathway_Homo sapiens_hsa041500.48183121
68Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.47335320
69Inositol phosphate metabolism_Homo sapiens_hsa005620.46691037
70Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.46215416
71Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.45562701
72Arginine biosynthesis_Homo sapiens_hsa002200.44159731
73Legionellosis_Homo sapiens_hsa051340.43392265
74Bladder cancer_Homo sapiens_hsa052190.42824738
75Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.42440175
76Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.39427995
77Lysine degradation_Homo sapiens_hsa003100.39293912
78Carbon metabolism_Homo sapiens_hsa012000.37787259
79Pathways in cancer_Homo sapiens_hsa052000.37683474
80Chronic myeloid leukemia_Homo sapiens_hsa052200.37310553
81Apoptosis_Homo sapiens_hsa042100.37049684
82Drug metabolism - other enzymes_Homo sapiens_hsa009830.36982532
83Wnt signaling pathway_Homo sapiens_hsa043100.36725044
84Folate biosynthesis_Homo sapiens_hsa007900.34148961
85Metabolic pathways_Homo sapiens_hsa011000.33758492
86HIF-1 signaling pathway_Homo sapiens_hsa040660.33758423
87Thyroid hormone signaling pathway_Homo sapiens_hsa049190.32239082
88Tight junction_Homo sapiens_hsa045300.31963642
89Circadian rhythm_Homo sapiens_hsa047100.29779281
90Fatty acid metabolism_Homo sapiens_hsa012120.28743627
91Longevity regulating pathway - mammal_Homo sapiens_hsa042110.28674099
92Prostate cancer_Homo sapiens_hsa052150.28248765
93Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.27529247
94Hepatitis B_Homo sapiens_hsa051610.26658776
95Fructose and mannose metabolism_Homo sapiens_hsa000510.25362790
96Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.24816251
97Melanoma_Homo sapiens_hsa052180.24215356
98Glioma_Homo sapiens_hsa052140.23979067
99Proteoglycans in cancer_Homo sapiens_hsa052050.20995506
100Non-small cell lung cancer_Homo sapiens_hsa052230.20820805
101Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.20270368
102FoxO signaling pathway_Homo sapiens_hsa040680.19236299
103Endometrial cancer_Homo sapiens_hsa052130.16441430
104Influenza A_Homo sapiens_hsa051640.15912961
105Viral myocarditis_Homo sapiens_hsa054160.15312621
106Gap junction_Homo sapiens_hsa045400.15234558
1072-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.15104032
108Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.14810073
109Parkinsons disease_Homo sapiens_hsa050120.14541817
110Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.14220499
111Shigellosis_Homo sapiens_hsa051310.11976746
112PI3K-Akt signaling pathway_Homo sapiens_hsa041510.10837442
113Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.10620328
114Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.09982348
115Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.09790347
116NF-kappa B signaling pathway_Homo sapiens_hsa040640.09403693
117Measles_Homo sapiens_hsa051620.08196166
118NOD-like receptor signaling pathway_Homo sapiens_hsa046210.08153885
119Acute myeloid leukemia_Homo sapiens_hsa052210.07632361
120Glutathione metabolism_Homo sapiens_hsa004800.07620533
121Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.06663351
122AMPK signaling pathway_Homo sapiens_hsa041520.05684430
123Sulfur relay system_Homo sapiens_hsa041220.05282190
124Pancreatic cancer_Homo sapiens_hsa052120.04420733
125Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.04225868
126Regulation of actin cytoskeleton_Homo sapiens_hsa048100.04131049

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