SKA3

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 component of the spindle and kinetochore-associated protein complex that regulates microtubule attachment to the kinetochores during mitosis. The encoded protein localizes to the outer kinetechore and may be required for normal chromosome segregation and cell division. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1mitotic metaphase plate congression (GO:0007080)5.43826632
2CENP-A containing nucleosome assembly (GO:0034080)5.37307077
3attachment of spindle microtubules to kinetochore (GO:0008608)5.34660716
4protein localization to kinetochore (GO:0034501)5.31805512
5kinetochore organization (GO:0051383)5.19506486
6chromatin remodeling at centromere (GO:0031055)5.19498503
7metaphase plate congression (GO:0051310)4.94396345
8establishment of integrated proviral latency (GO:0075713)4.88139316
9nuclear pore organization (GO:0006999)4.78192889
10kinetochore assembly (GO:0051382)4.76306110
11DNA replication initiation (GO:0006270)4.66901815
12mitotic sister chromatid segregation (GO:0000070)4.66319537
13DNA strand elongation involved in DNA replication (GO:0006271)4.66261497
14protein localization to chromosome, centromeric region (GO:0071459)4.65434082
15DNA unwinding involved in DNA replication (GO:0006268)4.62345418
16DNA replication-independent nucleosome assembly (GO:0006336)4.62193097
17DNA replication-independent nucleosome organization (GO:0034724)4.62193097
18DNA replication checkpoint (GO:0000076)4.54672300
19telomere maintenance via semi-conservative replication (GO:0032201)4.52947208
20establishment of chromosome localization (GO:0051303)4.52463049
21sister chromatid segregation (GO:0000819)4.43859856
22DNA strand elongation (GO:0022616)4.43404231
23regulation of spindle organization (GO:0090224)4.42511722
24histone exchange (GO:0043486)4.38136705
25nuclear pore complex assembly (GO:0051292)4.32141151
26mitotic recombination (GO:0006312)4.31132217
27telomere maintenance via recombination (GO:0000722)4.26491496
28mitotic chromosome condensation (GO:0007076)4.24848524
29regulation of nuclear cell cycle DNA replication (GO:0033262)4.21963252
30regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)4.14504502
31mitotic nuclear envelope disassembly (GO:0007077)4.12135458
32regulation of attachment of spindle microtubules to kinetochore (GO:0051988)4.11856531
33regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450914.04758431
34positive regulation of chromosome segregation (GO:0051984)4.03150022
35meiotic chromosome segregation (GO:0045132)3.98162213
36spindle checkpoint (GO:0031577)3.88630789
37telomere maintenance via telomere lengthening (GO:0010833)3.87454460
38regulation of mitotic spindle organization (GO:0060236)3.86112386
39membrane disassembly (GO:0030397)3.77963265
40nuclear envelope disassembly (GO:0051081)3.77963265
41DNA replication-dependent nucleosome organization (GO:0034723)3.77242648
42DNA replication-dependent nucleosome assembly (GO:0006335)3.77242648
43establishment of viral latency (GO:0019043)3.76170008
44regulation of chromosome segregation (GO:0051983)3.69722467
45nucleobase biosynthetic process (GO:0046112)3.67605420
46negative regulation of chromosome segregation (GO:0051985)3.65965845
47negative regulation of mitotic metaphase/anaphase transition (GO:0045841)3.65640627
48negative regulation of sister chromatid segregation (GO:0033046)3.65640627
49negative regulation of mitotic sister chromatid separation (GO:2000816)3.65640627
50negative regulation of mitotic sister chromatid segregation (GO:0033048)3.65640627
51spindle assembly checkpoint (GO:0071173)3.64902381
52proteasome assembly (GO:0043248)3.63526355
53regulation of mitotic metaphase/anaphase transition (GO:0030071)3.61596250
54anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.60818951
55positive regulation of mitotic sister chromatid separation (GO:1901970)3.60449106
56positive regulation of mitotic metaphase/anaphase transition (GO:0045842)3.60449106
57positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)3.60449106
58protein localization to chromosome (GO:0034502)3.57110484
59purine nucleobase biosynthetic process (GO:0009113)3.55857517
60negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)3.55518259
61pore complex assembly (GO:0046931)3.54920693
62regulation of metaphase/anaphase transition of cell cycle (GO:1902099)3.53866338
63nucleotide-excision repair, DNA gap filling (GO:0006297)3.52621980
64regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.51616881
65mitotic spindle checkpoint (GO:0071174)3.51531728
66regulation of mitotic sister chromatid separation (GO:0010965)3.49595143
67regulation of mitotic sister chromatid segregation (GO:0033047)3.49595143
68regulation of sister chromatid segregation (GO:0033045)3.49595143
69regulation of double-strand break repair via homologous recombination (GO:0010569)3.47881965
70mitotic spindle assembly checkpoint (GO:0007094)3.47530074
71negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.47030982
72* chromosome segregation (GO:0007059)3.45058572
73ATP-dependent chromatin remodeling (GO:0043044)3.40703835
74chromatin assembly or disassembly (GO:0006333)3.35138103
75mitotic sister chromatid cohesion (GO:0007064)3.35058498
76non-recombinational repair (GO:0000726)3.33822444
77double-strand break repair via nonhomologous end joining (GO:0006303)3.33822444
78protein complex localization (GO:0031503)3.32411804
79protein K6-linked ubiquitination (GO:0085020)3.32270743
80mitotic G2/M transition checkpoint (GO:0044818)3.31776667
81IMP metabolic process (GO:0046040)3.28875509
82DNA packaging (GO:0006323)3.28449978
83negative regulation of DNA-dependent DNA replication (GO:2000104)3.25601615
84microtubule depolymerization (GO:0007019)3.25337584
85regulation of centrosome cycle (GO:0046605)3.24555650
86heterochromatin organization (GO:0070828)3.23900250
87DNA topological change (GO:0006265)3.21882779
88somatic hypermutation of immunoglobulin genes (GO:0016446)3.21323950
89somatic diversification of immune receptors via somatic mutation (GO:0002566)3.21323950
90DNA synthesis involved in DNA repair (GO:0000731)3.19436284
91negative regulation of ligase activity (GO:0051352)3.18662146
92negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.18662146
93positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.14878938
94telomere maintenance (GO:0000723)3.14729067
95telomere organization (GO:0032200)3.12765597
96regulation of sister chromatid cohesion (GO:0007063)3.10459030
97DNA double-strand break processing (GO:0000729)3.10344109
98regulation of DNA endoreduplication (GO:0032875)3.09330576
99mitotic cell cycle (GO:0000278)3.08169789
100regulation of centriole replication (GO:0046599)3.08084180
101regulation of mitotic spindle checkpoint (GO:1903504)3.07581074
102regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)3.07581074
103IMP biosynthetic process (GO:0006188)3.05984911
104formation of translation preinitiation complex (GO:0001731)3.05942835
105DNA geometric change (GO:0032392)3.05936071
106DNA duplex unwinding (GO:0032508)3.05472430
107maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)3.05045923
108mismatch repair (GO:0006298)3.03026509
109ribosome assembly (GO:0042255)3.02995419
110L-serine metabolic process (GO:0006563)3.02734217
111negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)3.01736649
112spliceosomal snRNP assembly (GO:0000387)2.97560286
113transcription-coupled nucleotide-excision repair (GO:0006283)2.96956533
114ribosome biogenesis (GO:0042254)2.96949038
115chromosome condensation (GO:0030261)2.94195528
116DNA ligation (GO:0006266)2.93915548
117negative regulation of mitosis (GO:0045839)2.92291168
118cell cycle G1/S phase transition (GO:0044843)2.91479123
119G1/S transition of mitotic cell cycle (GO:0000082)2.91479123
120nuclear envelope organization (GO:0006998)2.90788000
121DNA deamination (GO:0045006)2.90130822
122DNA replication (GO:0006260)2.89528553

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXM1_23109430_ChIP-Seq_U2OS_Human5.97282666
2E2F4_17652178_ChIP-ChIP_JURKAT_Human4.61805827
3* FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human4.10041039
4MYC_18555785_ChIP-Seq_MESCs_Mouse3.88117789
5KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.48319979
6EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.88777903
7EST1_17652178_ChIP-ChIP_JURKAT_Human2.78404438
8MYC_19079543_ChIP-ChIP_MESCs_Mouse2.72592148
9MYC_19030024_ChIP-ChIP_MESCs_Mouse2.71652871
10MYC_18358816_ChIP-ChIP_MESCs_Mouse2.55961220
11GABP_17652178_ChIP-ChIP_JURKAT_Human2.52452769
12HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.51322030
13JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.45298814
14AR_21909140_ChIP-Seq_LNCAP_Human2.45011955
15CREB1_15753290_ChIP-ChIP_HEK293T_Human2.41545840
16MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.39024684
17E2F1_21310950_ChIP-Seq_MCF-7_Human2.37211391
18ETS1_20019798_ChIP-Seq_JURKAT_Human2.35234804
19NELFA_20434984_ChIP-Seq_ESCs_Mouse2.34525984
20CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.33992955
21MYBL2_22936984_ChIP-ChIP_MESCs_Mouse2.26406631
22KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.20462631
23XRN2_22483619_ChIP-Seq_HELA_Human2.10939881
24VDR_23849224_ChIP-Seq_CD4+_Human2.03724518
25MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.02020163
26TP63_19390658_ChIP-ChIP_HaCaT_Human2.00620240
27E2F7_22180533_ChIP-Seq_HELA_Human10.2127430
28NANOG_18555785_ChIP-Seq_MESCs_Mouse1.94029931
29NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.91869421
30FOXP3_21729870_ChIP-Seq_TREG_Human1.89275972
31EGR1_19374776_ChIP-ChIP_THP-1_Human1.87731025
32E2F1_18555785_ChIP-Seq_MESCs_Mouse1.87150243
33MYCN_18555785_ChIP-Seq_MESCs_Mouse1.84037519
34E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.81619375
35ELF1_17652178_ChIP-ChIP_JURKAT_Human1.80477168
36POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.80081759
37HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.78207100
38TTF2_22483619_ChIP-Seq_HELA_Human1.75047210
39PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.74298724
40DCP1A_22483619_ChIP-Seq_HELA_Human1.73225644
41ELK1_19687146_ChIP-ChIP_HELA_Human1.70413839
42YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.67684737
43* FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.63828006
44SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.62320513
45CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.61920559
46HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.60584791
47CIITA_25753668_ChIP-Seq_RAJI_Human1.60307752
48GABP_19822575_ChIP-Seq_HepG2_Human1.56032556
49THAP11_20581084_ChIP-Seq_MESCs_Mouse1.54182814
50HOXB4_20404135_ChIP-ChIP_EML_Mouse1.49914474
51SOX2_18555785_ChIP-Seq_MESCs_Mouse1.43527986
52YY1_21170310_ChIP-Seq_MESCs_Mouse1.40227489
53ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.36009258
54KDM5A_27292631_Chip-Seq_BREAST_Human1.32290120
55SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.30145990
56PADI4_21655091_ChIP-ChIP_MCF-7_Human1.28761627
57POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.28377783
58SRF_21415370_ChIP-Seq_HL-1_Mouse1.26516639
59ZFX_18555785_ChIP-Seq_MESCs_Mouse1.26197210
60SALL1_21062744_ChIP-ChIP_HESCs_Human1.23135267
61* SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.21865726
62TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.21827172
63E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.17125254
64RBPJ_22232070_ChIP-Seq_NCS_Mouse1.16016787
65ERG_20887958_ChIP-Seq_HPC-7_Mouse1.16007831
66CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.15989849
67SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.14832937
68NANOG_16153702_ChIP-ChIP_HESCs_Human1.13624285
69MYC_22102868_ChIP-Seq_BL_Human1.10678196
70POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.09132650
71* ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.09043687
72KLF4_18555785_ChIP-Seq_MESCs_Mouse1.04849621
73KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.04543726
74ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.04246938
75MYC_18940864_ChIP-ChIP_HL60_Human1.01325424
76SOX17_20123909_ChIP-Seq_XEN_Mouse0.99053107
77TFEB_21752829_ChIP-Seq_HELA_Human0.98675353
78SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.98295945
79PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.96043206
80FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.93685008
81STAT3_1855785_ChIP-Seq_MESCs_Mouse0.93418961
82POU5F1_16153702_ChIP-ChIP_HESCs_Human0.91913426
83CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.89742837
84CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.88118126
85TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.86126583
86NANOG_21062744_ChIP-ChIP_HESCs_Human0.84184325
87PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.83410276
88BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.83372157
89NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.81707613
90SPI1_23547873_ChIP-Seq_NB4_Human0.81118879
91CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.79600009
92CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.79412576
93ESR1_15608294_ChIP-ChIP_MCF-7_Human0.78332608
94DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.78219121
95GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.78170604
96DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.77280639
97KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.76020080
98HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.74278507
99EWS_26573619_Chip-Seq_HEK293_Human0.74256889
100KLF5_18264089_ChIP-ChIP_MESCs_Mouse0.73775026
101KLF4_18264089_ChIP-ChIP_MESCs_Mouse0.73775026
102KLF2_18264089_ChIP-ChIP_MESCs_Mouse0.73775026
103SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.73556695
104NOTCH1_21737748_ChIP-Seq_TLL_Human0.72824580
105CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.72294289
106TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.72129380
107SOX2_16153702_ChIP-ChIP_HESCs_Human0.69658190
108NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.68997412
109TCF3_18692474_ChIP-Seq_MEFs_Mouse0.68225066
110CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.68010282
111HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.67895566

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching5.38324830
2MP0010094_abnormal_chromosome_stability5.17552165
3MP0003111_abnormal_nucleus_morphology5.06094192
4MP0008057_abnormal_DNA_replication4.93538387
5MP0003077_abnormal_cell_cycle4.38500307
6MP0004957_abnormal_blastocyst_morpholog4.03715343
7MP0008058_abnormal_DNA_repair3.68877450
8MP0008007_abnormal_cellular_replicative3.15773843
9MP0008877_abnormal_DNA_methylation2.99212403
10MP0008932_abnormal_embryonic_tissue2.61818416
11MP0002396_abnormal_hematopoietic_system2.44570820
12MP0003123_paternal_imprinting2.44569393
13MP0003786_premature_aging2.20337228
14MP0001730_embryonic_growth_arrest2.14329433
15MP0000350_abnormal_cell_proliferation2.14171203
16MP0006292_abnormal_olfactory_placode1.97983999
17MP0003121_genomic_imprinting1.93004198
18MP0003890_abnormal_embryonic-extraembry1.84697610
19MP0003718_maternal_effect1.80312973
20MP0010307_abnormal_tumor_latency1.78966060
21MP0001672_abnormal_embryogenesis/_devel1.69764672
22MP0005380_embryogenesis_phenotype1.69764672
23MP0003806_abnormal_nucleotide_metabolis1.58467501
24MP0001697_abnormal_embryo_size1.57980925
25MP0004808_abnormal_hematopoietic_stem1.54955284
26MP0000490_abnormal_crypts_of1.54677034
27MP0002085_abnormal_embryonic_tissue1.47194043
28MP0003136_yellow_coat_color1.44972122
29MP0003984_embryonic_growth_retardation1.43948661
30MP0002019_abnormal_tumor_incidence1.43835671
31MP0000313_abnormal_cell_death1.43479407
32MP0003567_abnormal_fetal_cardiomyocyte1.43070894
33MP0002080_prenatal_lethality1.41479096
34MP0002088_abnormal_embryonic_growth/wei1.39112105
35MP0006035_abnormal_mitochondrial_morpho1.38595999
36MP0002210_abnormal_sex_determination1.37795443
37MP0010352_gastrointestinal_tract_polyps1.37171985
38MP0002084_abnormal_developmental_patter1.28285807
39MP0004197_abnormal_fetal_growth/weight/1.25493598
40MP0002086_abnormal_extraembryonic_tissu1.24624805
41MP0003315_abnormal_perineum_morphology1.24591902
42MP0005076_abnormal_cell_differentiation1.23991223
43MP0010030_abnormal_orbit_morphology1.21041731
44MP0002697_abnormal_eye_size1.16438894
45MP0001145_abnormal_male_reproductive1.13083422
46MP0009697_abnormal_copulation1.10973065
47MP0001119_abnormal_female_reproductive1.10289909
48MP0006054_spinal_hemorrhage1.09636000
49MP0001929_abnormal_gametogenesis1.08341263
50MP0002160_abnormal_reproductive_system1.07912754
51MP0000372_irregular_coat_pigmentation1.06953152
52MP0009333_abnormal_splenocyte_physiolog1.04507710
53MP0006036_abnormal_mitochondrial_physio1.04035479
54MP0001293_anophthalmia1.03958933
55MP0000653_abnormal_sex_gland1.03046916
56MP0000703_abnormal_thymus_morphology1.00903911
57MP0003937_abnormal_limbs/digits/tail_de0.97779707
58MP0004133_heterotaxia0.97422810
59MP0003763_abnormal_thymus_physiology0.96603100
60MP0002877_abnormal_melanocyte_morpholog0.95716924
61MP0002398_abnormal_bone_marrow0.93659685
62MP0003787_abnormal_imprinting0.93225641
63MP0005389_reproductive_system_phenotype0.90230376
64MP0009053_abnormal_anal_canal0.89650369
65MP0002722_abnormal_immune_system0.88534932
66MP0003941_abnormal_skin_development0.86280138
67MP0001286_abnormal_eye_development0.86000486
68MP0005501_abnormal_skin_physiology0.84051263
69MP0001853_heart_inflammation0.84021717
70MP0000689_abnormal_spleen_morphology0.83755596
71MP0005384_cellular_phenotype0.80244757
72MP0008995_early_reproductive_senescence0.79398242
73MP0009672_abnormal_birth_weight0.78108221
74MP0002132_abnormal_respiratory_system0.77779033
75MP0005621_abnormal_cell_physiology0.76846101
76MP0005397_hematopoietic_system_phenotyp0.76479439
77MP0001545_abnormal_hematopoietic_system0.76479439
78MP0000566_synostosis0.75985486
79MP0002092_abnormal_eye_morphology0.74725743
80MP0002233_abnormal_nose_morphology0.74525065
81MP0000428_abnormal_craniofacial_morphol0.74275470
82MP0003186_abnormal_redox_activity0.73593573
83MP0002796_impaired_skin_barrier0.73483298
84MP0008789_abnormal_olfactory_epithelium0.73085875
85MP0005395_other_phenotype0.73036984
86MP0002095_abnormal_skin_pigmentation0.72881453
87MP0000647_abnormal_sebaceous_gland0.71612395
88MP0000015_abnormal_ear_pigmentation0.70418303
89MP0000858_altered_metastatic_potential0.69269550
90* MP0002111_abnormal_tail_morphology0.68989177
91MP0003861_abnormal_nervous_system0.68809501
92MP0003119_abnormal_digestive_system0.68648006
93MP0004147_increased_porphyrin_level0.68593972
94MP0005171_absent_coat_pigmentation0.67177622
95MP0002429_abnormal_blood_cell0.66390575
96MP0001529_abnormal_vocalization0.65674500
97MP0001188_hyperpigmentation0.64071115
98MP0009703_decreased_birth_body0.63322771
99MP0002161_abnormal_fertility/fecundity0.63086552
100MP0000049_abnormal_middle_ear0.62860800
101MP0005075_abnormal_melanosome_morpholog0.61995360
102MP0004185_abnormal_adipocyte_glucose0.61930506
103MP0003698_abnormal_male_reproductive0.61929597
104MP0001915_intracranial_hemorrhage0.60754350
105MP0003950_abnormal_plasma_membrane0.60287161
106MP0001186_pigmentation_phenotype0.60262757
107MP0000432_abnormal_head_morphology0.60119392
108MP0006072_abnormal_retinal_apoptosis0.60056872
109MP0004264_abnormal_extraembryonic_tissu0.59772878
110MP0001346_abnormal_lacrimal_gland0.59095669
111MP0005023_abnormal_wound_healing0.58776210
112MP0003699_abnormal_female_reproductive0.58531711
113MP0003755_abnormal_palate_morphology0.57925427
114MP0002102_abnormal_ear_morphology0.56085111
115MP0003705_abnormal_hypodermis_morpholog0.55762352
116MP0000716_abnormal_immune_system0.55705761
117MP0002254_reproductive_system_inflammat0.55521854
118MP0002006_tumorigenesis0.55351646
119MP0004233_abnormal_muscle_weight0.55273483
120MP0002009_preneoplasia0.54986388
121MP0000358_abnormal_cell_content/0.54822568
122MP0003943_abnormal_hepatobiliary_system0.54683696
123MP0003935_abnormal_craniofacial_develop0.54496612
124MP0001881_abnormal_mammary_gland0.53778985
125MP0001919_abnormal_reproductive_system0.53614415
126MP0003448_altered_tumor_morphology0.53518878
127MP0002163_abnormal_gland_morphology0.53450943
128MP0000579_abnormal_nail_morphology0.53243343
129MP0002938_white_spotting0.53057680
130MP0000537_abnormal_urethra_morphology0.52828420
131MP0003221_abnormal_cardiomyocyte_apopto0.51691076
132MP0008770_decreased_survivor_rate0.51188982
133MP0005408_hypopigmentation0.51019447
134MP0002075_abnormal_coat/hair_pigmentati0.50964394

Predicted human phenotypes

RankGene SetZ-score
1Chromsome breakage (HP:0040012)5.47596119
2Chromosomal breakage induced by crosslinking agents (HP:0003221)5.28553368
3Birth length less than 3rd percentile (HP:0003561)4.99246874
4Impulsivity (HP:0100710)3.90655958
5Breast hypoplasia (HP:0003187)3.84113398
6Patellar aplasia (HP:0006443)3.75832720
7Abnormality of chromosome stability (HP:0003220)3.73975563
8Reticulocytopenia (HP:0001896)3.63576132
9Meckel diverticulum (HP:0002245)3.61227692
10Aplasia/Hypoplasia of the patella (HP:0006498)3.50436059
11Duplicated collecting system (HP:0000081)3.50017374
12Abnormality of the ileum (HP:0001549)3.40605868
13Aplasia/Hypoplasia of the uvula (HP:0010293)3.40580713
14Abnormality of the preputium (HP:0100587)3.36726926
15Medulloblastoma (HP:0002885)3.13742857
16Abnormality of the renal collecting system (HP:0004742)3.12281787
17Duodenal stenosis (HP:0100867)3.11102442
18Small intestinal stenosis (HP:0012848)3.11102442
19Abnormal lung lobation (HP:0002101)3.09214113
20Ectopic kidney (HP:0000086)3.06686218
21Cortical dysplasia (HP:0002539)3.03363174
2211 pairs of ribs (HP:0000878)3.02390530
23Agnosia (HP:0010524)3.01332868
24Absent radius (HP:0003974)3.00754084
25Carpal bone hypoplasia (HP:0001498)2.97626275
26Supernumerary spleens (HP:0009799)2.93378696
27Multiple enchondromatosis (HP:0005701)2.90213998
28Selective tooth agenesis (HP:0001592)2.86130692
29Aplasia involving forearm bones (HP:0009822)2.82113238
30Absent forearm bone (HP:0003953)2.82113238
31Abnormality of the labia minora (HP:0012880)2.77988502
32Oral leukoplakia (HP:0002745)2.77894215
33Abnormal number of incisors (HP:0011064)2.74129515
34Sloping forehead (HP:0000340)2.70500504
35Myelodysplasia (HP:0002863)2.70201234
36Bone marrow hypocellularity (HP:0005528)2.65082748
37Absent thumb (HP:0009777)2.61912135
38Abnormality of the anterior horn cell (HP:0006802)2.59817115
39Degeneration of anterior horn cells (HP:0002398)2.59817115
40Colon cancer (HP:0003003)2.58635569
41Nephroblastoma (Wilms tumor) (HP:0002667)2.51294071
42Abnormality of DNA repair (HP:0003254)2.51016371
43Rough bone trabeculation (HP:0100670)2.48925741
44Abnormality of the duodenum (HP:0002246)2.48152591
45Rhabdomyosarcoma (HP:0002859)2.41745696
46Clubbing of toes (HP:0100760)2.41292990
47Aplastic anemia (HP:0001915)2.38217021
48Increased nuchal translucency (HP:0010880)2.34681967
49Horseshoe kidney (HP:0000085)2.34252221
50Embryonal renal neoplasm (HP:0011794)2.33850181
51Abnormality of glycolysis (HP:0004366)2.33236663
52Ependymoma (HP:0002888)2.32640575
53Microvesicular hepatic steatosis (HP:0001414)2.32361783
54Short thumb (HP:0009778)2.25700855
55Abnormality of the carotid arteries (HP:0005344)2.25030030
56Tracheoesophageal fistula (HP:0002575)2.25017680
57Premature graying of hair (HP:0002216)2.21381092
58Increased serum pyruvate (HP:0003542)2.19419440
59Abnormality of the fetal cardiovascular system (HP:0010948)2.14610485
60Abnormal umbilical cord blood vessels (HP:0011403)2.14610485
61Single umbilical artery (HP:0001195)2.14610485
62Embryonal neoplasm (HP:0002898)2.14337435
63Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.13112798
64Abnormal number of erythroid precursors (HP:0012131)2.12926714
65Neoplasm of the pancreas (HP:0002894)2.10224563
66Aplasia/Hypoplasia of the sternum (HP:0006714)2.09592719
67Short 4th metacarpal (HP:0010044)2.09171462
68Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.09171462
69Hypoplasia of the capital femoral epiphysis (HP:0003090)2.08721695
70Abnormality of pyrimidine metabolism (HP:0004353)2.08415481
71Choanal atresia (HP:0000453)2.07400117
72Triphalangeal thumb (HP:0001199)2.06865670
73Abnormality of cells of the erythroid lineage (HP:0012130)2.06355452
74Acute encephalopathy (HP:0006846)2.06223262
75Increased hepatocellular lipid droplets (HP:0006565)2.06179633
76Aplasia/Hypoplasia of the sacrum (HP:0008517)2.05932942
77Cerebral hypomyelination (HP:0006808)2.03603283
78Missing ribs (HP:0000921)2.02183046
79Acute necrotizing encephalopathy (HP:0006965)2.01299400
80Cellular immunodeficiency (HP:0005374)2.00979750
81Volvulus (HP:0002580)1.99611226
82Lymphoma (HP:0002665)1.95030808
83Ureteral duplication (HP:0000073)1.94575197
84Facial hemangioma (HP:0000329)1.94415394
85Pancytopenia (HP:0001876)1.94288311
86Cleft eyelid (HP:0000625)1.93384728
87Megaloblastic anemia (HP:0001889)1.93262659
88Arteriovenous malformation (HP:0100026)1.91077492
89Abnormal trabecular bone morphology (HP:0100671)1.89705433
90Prominent nose (HP:0000448)1.89327428
91Exertional dyspnea (HP:0002875)1.88865549
92Rib fusion (HP:0000902)1.88524509
93Abnormal mitochondria in muscle tissue (HP:0008316)1.87957268
94Respiratory difficulties (HP:0002880)1.87890636
95Deviation of the thumb (HP:0009603)1.87028760
96Proximal placement of thumb (HP:0009623)1.86648367
97Abnormality of the umbilical cord (HP:0010881)1.86045944
98Cafe-au-lait spot (HP:0000957)1.86017498
99Atresia of the external auditory canal (HP:0000413)1.85740016
100Abnormal spermatogenesis (HP:0008669)1.85083985
101Abnormality of methionine metabolism (HP:0010901)1.84343525
102Duplication of thumb phalanx (HP:0009942)1.83448769
103Glioma (HP:0009733)1.83338142
104Progressive external ophthalmoplegia (HP:0000590)1.82592800
105High pitched voice (HP:0001620)1.81322308
106Hypoplastic pelvis (HP:0008839)1.79596185
107Type I transferrin isoform profile (HP:0003642)1.79553086
108Pallor (HP:0000980)1.76636611
109Lipid accumulation in hepatocytes (HP:0006561)1.76531892
110Macrocytic anemia (HP:0001972)1.76155172
111Progressive muscle weakness (HP:0003323)1.75226467
112IgM deficiency (HP:0002850)1.74736080
113Irregular epiphyses (HP:0010582)1.73934943
114Abnormality of the astrocytes (HP:0100707)1.73676958
115Astrocytoma (HP:0009592)1.73676958
116Ovarian neoplasm (HP:0100615)1.72574630
117Short middle phalanx of the 5th finger (HP:0004220)1.72146540
118Asplenia (HP:0001746)1.71855972
119Basal cell carcinoma (HP:0002671)1.71840715
120Neoplasm of the colon (HP:0100273)1.71021004
121Aplasia/Hypoplasia of the earlobes (HP:0009906)1.70098021
122Facial cleft (HP:0002006)1.69779765
123Squamous cell carcinoma (HP:0002860)1.69319970
124Increased CSF lactate (HP:0002490)1.68865755
125Abnormality of the septum pellucidum (HP:0007375)1.67290665
126Neoplasm of striated muscle (HP:0009728)1.66127571
127Increased serum lactate (HP:0002151)1.63384988
128Neoplasm of the adrenal gland (HP:0100631)1.61415241
129Abnormality of cochlea (HP:0000375)1.60504792
130Abnormality of chromosome segregation (HP:0002916)1.59739695
131Septo-optic dysplasia (HP:0100842)1.58932911
132Hypoplasia of the pons (HP:0012110)1.58142540
133Postnatal microcephaly (HP:0005484)1.57669622

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB15.01297312
2WEE14.51820051
3CDC74.30223956
4PLK42.95744033
5TTK2.95219198
6ACVR1B2.93413253
7NEK22.84163971
8VRK22.81307918
9NEK12.76982246
10BRSK22.71384254
11EIF2AK12.62333273
12PLK12.52505394
13PLK32.24959584
14SRPK12.23632645
15MKNK12.10565600
16ZAK2.08548149
17BRSK12.00488332
18VRK11.99480077
19AURKB1.90814153
20STK41.75658326
21ATR1.71335755
22EIF2AK31.68729557
23CDK121.64919922
24BRD41.64731913
25CHEK21.58269692
26CDK71.56360359
27STK161.55925652
28TAF11.55247758
29MKNK21.54813045
30TSSK61.43270342
31TRIM281.41346308
32STK101.36988353
33AURKA1.29030666
34CCNB11.28374281
35TLK11.28159888
36CLK11.28058407
37DYRK31.27204612
38NUAK11.26539292
39MAP3K81.25857248
40CHEK11.24196621
41CSNK1G31.19017430
42RPS6KB21.17672560
43PASK1.15669925
44CSNK1A1L1.12063343
45EIF2AK21.10349988
46CDK41.06618015
47NME21.00414395
48EPHA20.98145387
49BRAF0.97933769
50NME10.94984287
51CSNK1G10.93811603
52MELK0.92672993
53TESK20.91328217
54RPS6KA40.88983197
55SMG10.88485773
56ATM0.88391697
57YES10.83955500
58MAP3K100.82184427
59PIM10.81408991
60ERBB40.79710521
61CDK20.78161438
62CDK80.77723872
63CDK60.77659519
64CDK10.75457877
65SCYL20.73959105
66TGFBR10.73744405
67STK38L0.73667438
68PDK20.72363998
69IRAK40.69664710
70STK30.68394818
71PBK0.63909552
72PAK40.63882042
73ERBB30.63333248
74CSNK1G20.60918644
75CSNK2A10.59074190
76CHUK0.58844081
77TNIK0.58027699
78PNCK0.57678386
79PAK10.53128048
80CSNK2A20.52461776
81TEC0.51683986
82TAOK20.51299401
83MST40.50705134
84LATS20.39935090
85IRAK30.39654483
86CDK180.39626827
87RPS6KA50.39565845
88MST1R0.39017299
89FGFR10.38838670
90CDK150.36878801
91AKT30.35538710
92CDK140.35434541
93CDK11A0.35124409
94CDK30.31897406
95WNK30.31621679
96PRKCI0.30940613
97PIM20.30769946
98LATS10.29875315
99CSNK1D0.29241234
100DAPK10.28670758
101BMPR1B0.25131167
102PRKDC0.25031283
103BTK0.24910223
104AKT10.23695839
105MAPK140.23238490
106CDK90.22902678
107AKT20.22660058
108UHMK10.21714102
109MARK30.21286236
110DMPK0.21036138
111KDR0.20821913
112MAP2K30.20711018
113CSNK1E0.20537172
114EEF2K0.20509677
115RPS6KC10.18777251
116RPS6KL10.18777251
117ALK0.18217926
118DYRK20.16631736
119MET0.15694093
120RPS6KA60.15424705
121GSK3B0.15166356
122PLK20.12826351
123LYN0.12749970
124BCR0.11389741

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030305.11827221
2Mismatch repair_Homo sapiens_hsa034304.52677074
3Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.52554010
4Homologous recombination_Homo sapiens_hsa034403.49118414
5Base excision repair_Homo sapiens_hsa034103.42932009
6Cell cycle_Homo sapiens_hsa041103.32637156
7RNA polymerase_Homo sapiens_hsa030203.13520998
8Spliceosome_Homo sapiens_hsa030403.11582220
9RNA transport_Homo sapiens_hsa030133.10283615
10Nucleotide excision repair_Homo sapiens_hsa034202.95627949
11Fanconi anemia pathway_Homo sapiens_hsa034602.85174517
12One carbon pool by folate_Homo sapiens_hsa006702.76508910
13Proteasome_Homo sapiens_hsa030502.62337926
14Pyrimidine metabolism_Homo sapiens_hsa002402.46375865
15Non-homologous end-joining_Homo sapiens_hsa034502.44534942
16Ribosome_Homo sapiens_hsa030102.39420963
17RNA degradation_Homo sapiens_hsa030182.23196760
18Basal transcription factors_Homo sapiens_hsa030222.07802544
19Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.99542254
20p53 signaling pathway_Homo sapiens_hsa041151.95473180
21mRNA surveillance pathway_Homo sapiens_hsa030151.89994501
22Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.74254642
232-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.51777847
24Purine metabolism_Homo sapiens_hsa002301.37753627
25Systemic lupus erythematosus_Homo sapiens_hsa053221.31726763
26Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.29774921
27Pyruvate metabolism_Homo sapiens_hsa006201.28787567
28Oocyte meiosis_Homo sapiens_hsa041141.28441411
29Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.28181428
30Epstein-Barr virus infection_Homo sapiens_hsa051691.20764905
31Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.15036914
32Oxidative phosphorylation_Homo sapiens_hsa001901.13956381
33Carbon metabolism_Homo sapiens_hsa012001.08476470
34Viral carcinogenesis_Homo sapiens_hsa052031.04859533
35Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.03251897
36Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.02760449
37Herpes simplex infection_Homo sapiens_hsa051681.00686811
38Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.00544440
39Steroid biosynthesis_Homo sapiens_hsa001000.92782069
40Vitamin B6 metabolism_Homo sapiens_hsa007500.91617181
41Fatty acid elongation_Homo sapiens_hsa000620.88544195
42Propanoate metabolism_Homo sapiens_hsa006400.82854653
43Sulfur relay system_Homo sapiens_hsa041220.82436280
44HTLV-I infection_Homo sapiens_hsa051660.76504824
45Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.75498992
46MicroRNAs in cancer_Homo sapiens_hsa052060.75383774
47Antigen processing and presentation_Homo sapiens_hsa046120.73097267
48Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.63456436
49Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.62590419
50Alzheimers disease_Homo sapiens_hsa050100.61214686
51Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.60071311
52Folate biosynthesis_Homo sapiens_hsa007900.59278511
53Small cell lung cancer_Homo sapiens_hsa052220.58538219
54Transcriptional misregulation in cancer_Homo sapiens_hsa052020.57143917
55Cyanoamino acid metabolism_Homo sapiens_hsa004600.56906591
56Pentose phosphate pathway_Homo sapiens_hsa000300.55896915
57Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.55779835
58Primary immunodeficiency_Homo sapiens_hsa053400.55383432
59Protein export_Homo sapiens_hsa030600.55003256
60Huntingtons disease_Homo sapiens_hsa050160.48352034
61TGF-beta signaling pathway_Homo sapiens_hsa043500.47633321
62Alcoholism_Homo sapiens_hsa050340.46702147
63Drug metabolism - other enzymes_Homo sapiens_hsa009830.46689914
64NF-kappa B signaling pathway_Homo sapiens_hsa040640.46549675
65Colorectal cancer_Homo sapiens_hsa052100.46540851
66Legionellosis_Homo sapiens_hsa051340.45902043
67Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.45700013
68Lysine degradation_Homo sapiens_hsa003100.45679366
69Cysteine and methionine metabolism_Homo sapiens_hsa002700.45277989
70Apoptosis_Homo sapiens_hsa042100.45060316
71Thyroid cancer_Homo sapiens_hsa052160.43680929
72Measles_Homo sapiens_hsa051620.43602433
73Biosynthesis of amino acids_Homo sapiens_hsa012300.43148757
74Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.42487740
75Hippo signaling pathway_Homo sapiens_hsa043900.41294534
76N-Glycan biosynthesis_Homo sapiens_hsa005100.40863464
77Intestinal immune network for IgA production_Homo sapiens_hsa046720.40837865
78Viral myocarditis_Homo sapiens_hsa054160.40412535
79Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.40208774
80Basal cell carcinoma_Homo sapiens_hsa052170.39987084
81Hepatitis B_Homo sapiens_hsa051610.39203373
82Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.38574547
83Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.38111904
84Selenocompound metabolism_Homo sapiens_hsa004500.37819374
85Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.36042642
86Glutathione metabolism_Homo sapiens_hsa004800.35573040
87Hematopoietic cell lineage_Homo sapiens_hsa046400.34284132
88NOD-like receptor signaling pathway_Homo sapiens_hsa046210.34137145
89Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.33405353
90Arachidonic acid metabolism_Homo sapiens_hsa005900.29867039
91Adherens junction_Homo sapiens_hsa045200.29824467
92Fatty acid metabolism_Homo sapiens_hsa012120.29796063
93Notch signaling pathway_Homo sapiens_hsa043300.29602984
94Influenza A_Homo sapiens_hsa051640.29458865
95Graft-versus-host disease_Homo sapiens_hsa053320.29355614
96Shigellosis_Homo sapiens_hsa051310.28977058
97Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.27565201
98Central carbon metabolism in cancer_Homo sapiens_hsa052300.26948257
99Pathways in cancer_Homo sapiens_hsa052000.26589299
100Arginine and proline metabolism_Homo sapiens_hsa003300.25750058
101Prostate cancer_Homo sapiens_hsa052150.24405446
102Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.23380146
103Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.22841312
104Allograft rejection_Homo sapiens_hsa053300.21578158
105Galactose metabolism_Homo sapiens_hsa000520.19727129
106Pentose and glucuronate interconversions_Homo sapiens_hsa000400.19235027
107Vitamin digestion and absorption_Homo sapiens_hsa049770.18922230
108FoxO signaling pathway_Homo sapiens_hsa040680.18574408
109Asthma_Homo sapiens_hsa053100.16928971
110Autoimmune thyroid disease_Homo sapiens_hsa053200.16902332
111Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.16169088
112Hedgehog signaling pathway_Homo sapiens_hsa043400.15690887
113Pancreatic cancer_Homo sapiens_hsa052120.14031840
114Leishmaniasis_Homo sapiens_hsa051400.13628740
115Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.13399026
116Chronic myeloid leukemia_Homo sapiens_hsa052200.12769061
117Wnt signaling pathway_Homo sapiens_hsa043100.12421361
118Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.12145570
119Metabolic pathways_Homo sapiens_hsa011000.11828800
120Tight junction_Homo sapiens_hsa045300.11295865
121Parkinsons disease_Homo sapiens_hsa050120.11241651
122Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.11133950
123Bladder cancer_Homo sapiens_hsa052190.10969533
124Fructose and mannose metabolism_Homo sapiens_hsa000510.10675009
125Melanoma_Homo sapiens_hsa052180.09795605
126Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.09412676
127RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.09274182
128Jak-STAT signaling pathway_Homo sapiens_hsa046300.08788970
129Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.08733275
130Leukocyte transendothelial migration_Homo sapiens_hsa046700.08497514
131PI3K-Akt signaling pathway_Homo sapiens_hsa041510.08162841
132HIF-1 signaling pathway_Homo sapiens_hsa040660.08047638
133Fatty acid degradation_Homo sapiens_hsa000710.07142568
134Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.03337638

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