SAE1

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: Posttranslational modification of proteins by the addition of the small protein SUMO (see SUMO1; MIM 601912), or sumoylation, regulates protein structure and intracellular localization. SAE1 and UBA2 (MIM 613295) form a heterodimer that functions as a SUMO-activating enzyme for the sumoylation of proteins (Okuma et al., 1999 [PubMed 9920803]). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1DNA unwinding involved in DNA replication (GO:0006268)5.34085525
2DNA strand elongation involved in DNA replication (GO:0006271)5.02459497
3DNA strand elongation (GO:0022616)4.76366649
4protein localization to kinetochore (GO:0034501)4.69035285
5DNA replication initiation (GO:0006270)4.67979477
6telomere maintenance via semi-conservative replication (GO:0032201)4.54532696
7nucleobase biosynthetic process (GO:0046112)4.43207327
8formation of translation preinitiation complex (GO:0001731)4.39843013
9DNA replication-dependent nucleosome assembly (GO:0006335)4.23879006
10DNA replication-dependent nucleosome organization (GO:0034723)4.23879006
11mitotic nuclear envelope disassembly (GO:0007077)4.22793725
12IMP biosynthetic process (GO:0006188)4.16452787
13nuclear pore organization (GO:0006999)4.16424097
14purine nucleobase biosynthetic process (GO:0009113)4.13411520
15mitotic metaphase plate congression (GO:0007080)4.08780282
16telomere maintenance via recombination (GO:0000722)4.07212283
17establishment of viral latency (GO:0019043)4.06429469
18DNA replication checkpoint (GO:0000076)4.05094837
19mitotic recombination (GO:0006312)3.99226969
20protein localization to chromosome, centromeric region (GO:0071459)3.97321079
21nuclear envelope disassembly (GO:0051081)3.95727849
22membrane disassembly (GO:0030397)3.95727849
23folic acid-containing compound biosynthetic process (GO:0009396)3.94496623
24nuclear pore complex assembly (GO:0051292)3.91235204
25mitotic sister chromatid segregation (GO:0000070)3.90165909
26maturation of SSU-rRNA (GO:0030490)3.89345230
27heterochromatin organization (GO:0070828)3.89245090
28L-serine metabolic process (GO:0006563)3.74586132
29telomere maintenance via telomere lengthening (GO:0010833)3.70429565
30chromatin remodeling at centromere (GO:0031055)3.69907751
31protein complex localization (GO:0031503)3.68511768
32CENP-A containing nucleosome assembly (GO:0034080)3.65659882
33DNA ligation (GO:0006266)3.64931255
34ribosome assembly (GO:0042255)3.64805782
35regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.64132536
36sister chromatid segregation (GO:0000819)3.63934156
37ribosome biogenesis (GO:0042254)3.58100580
38IMP metabolic process (GO:0046040)3.58081946
39mitotic chromosome condensation (GO:0007076)3.57640542
40DNA replication-independent nucleosome assembly (GO:0006336)3.55732333
41DNA replication-independent nucleosome organization (GO:0034724)3.55732333
42nucleotide-excision repair, DNA gap filling (GO:0006297)3.55183648
43kinetochore organization (GO:0051383)3.55054938
44DNA duplex unwinding (GO:0032508)3.53140006
45metaphase plate congression (GO:0051310)3.52238893
46DNA geometric change (GO:0032392)3.51949041
47ribosomal small subunit assembly (GO:0000028)3.51418137
48regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)3.48692274
49mitotic sister chromatid cohesion (GO:0007064)3.44456134
50negative regulation of mRNA splicing, via spliceosome (GO:0048025)3.42509891
51spliceosomal snRNP assembly (GO:0000387)3.40128501
52DNA topological change (GO:0006265)3.38238956
53regulation of spindle organization (GO:0090224)3.37756396
54establishment of integrated proviral latency (GO:0075713)3.33958091
55attachment of spindle microtubules to kinetochore (GO:0008608)3.32980654
56DNA deamination (GO:0045006)3.32179452
57regulation of mitotic spindle organization (GO:0060236)3.31803053
58chromosome condensation (GO:0030261)3.30617512
59somatic diversification of immune receptors via somatic mutation (GO:0002566)3.27291229
60somatic hypermutation of immunoglobulin genes (GO:0016446)3.27291229
61double-strand break repair via nonhomologous end joining (GO:0006303)3.25350043
62non-recombinational repair (GO:0000726)3.25350043
63ribonucleoprotein complex biogenesis (GO:0022613)3.25030020
64peptidyl-arginine omega-N-methylation (GO:0035247)3.24858883
65postreplication repair (GO:0006301)3.24584384
66kinetochore assembly (GO:0051382)3.23802518
67negative regulation of chromosome segregation (GO:0051985)3.23640381
68regulation of gene silencing by RNA (GO:0060966)3.21907041
69regulation of posttranscriptional gene silencing (GO:0060147)3.21907041
70regulation of gene silencing by miRNA (GO:0060964)3.21907041
71regulation of chromosome segregation (GO:0051983)3.21475609
72establishment of chromosome localization (GO:0051303)3.21313371
73histone exchange (GO:0043486)3.19988097
74negative regulation of mitotic metaphase/anaphase transition (GO:0045841)3.17689836
75negative regulation of sister chromatid segregation (GO:0033046)3.17689836
76negative regulation of mitotic sister chromatid separation (GO:2000816)3.17689836
77negative regulation of mitotic sister chromatid segregation (GO:0033048)3.17689836
78nucleobase-containing small molecule interconversion (GO:0015949)3.17367461
79positive regulation of chromosome segregation (GO:0051984)3.16682221
80spindle assembly checkpoint (GO:0071173)3.13136391
81mitotic spindle assembly checkpoint (GO:0007094)3.12997427
82cellular protein complex localization (GO:0034629)3.11854617
83regulation of centrosome cycle (GO:0046605)3.11699934
84negative regulation of RNA splicing (GO:0033119)3.10990444
85spindle checkpoint (GO:0031577)3.09650683
86translational initiation (GO:0006413)3.08692899
87ribosomal large subunit biogenesis (GO:0042273)3.08223575
88chromosome segregation (GO:0007059)3.08129883
89negative regulation of mRNA processing (GO:0050686)3.07563803
90nuclear envelope organization (GO:0006998)3.07005616
91negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)3.06672912
92anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.06189597
93translesion synthesis (GO:0019985)3.06081335
94viral transcription (GO:0019083)3.05985871
95RNA splicing, via transesterification reactions with bulged adenosine as nucleophile (GO:0000377)3.05035292
96mRNA splicing, via spliceosome (GO:0000398)3.05035292
97chromatin assembly or disassembly (GO:0006333)3.04222773
98RNA splicing, via transesterification reactions (GO:0000375)3.04209452
99translational termination (GO:0006415)3.04124329
100pore complex assembly (GO:0046931)3.03906778
101base-excision repair (GO:0006284)3.03333398
102regulation of mitotic metaphase/anaphase transition (GO:0030071)3.02018982
103rRNA processing (GO:0006364)3.01399706
104viral mRNA export from host cell nucleus (GO:0046784)3.01382567
105histone arginine methylation (GO:0034969)3.01007339
106mitotic spindle checkpoint (GO:0071174)3.00948244
107translational elongation (GO:0006414)2.97874351
108regulation of mitotic sister chromatid separation (GO:0010965)2.96870132
109regulation of mitotic sister chromatid segregation (GO:0033047)2.96870132
110regulation of sister chromatid segregation (GO:0033045)2.96870132
111ATP-dependent chromatin remodeling (GO:0043044)2.96506822
112proteasome assembly (GO:0043248)2.96336139
113regulation of translational fidelity (GO:0006450)2.95245233
114regulation of translational termination (GO:0006449)2.94862828
115regulation of sister chromatid cohesion (GO:0007063)2.94695771
116negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)2.94568669
117regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)2.93961182
118regulation of metaphase/anaphase transition of cell cycle (GO:1902099)2.93862059
119histone H2A acetylation (GO:0043968)2.93836350
120DNA conformation change (GO:0071103)2.93645184
121G1/S transition of mitotic cell cycle (GO:0000082)2.93135866
122DNA packaging (GO:0006323)2.92907651
123DNA strand renaturation (GO:0000733)2.92880855
124tRNA aminoacylation for protein translation (GO:0006418)2.92301498
125cell cycle G1/S phase transition (GO:0044843)2.86259581
126amino acid activation (GO:0043038)2.85402550
127tRNA aminoacylation (GO:0043039)2.85402550
128protein localization to chromosome (GO:0034502)2.84083032

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human9.00969210
2FOXM1_23109430_ChIP-Seq_U2OS_Human4.43887565
3MYC_18555785_ChIP-Seq_MESCs_Mouse4.32029473
4* EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.85269756
5* E2F4_17652178_ChIP-ChIP_JURKAT_Human3.69859536
6FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human3.16208776
7MYC_19079543_ChIP-ChIP_MESCs_Mouse3.13360147
8* MYC_19030024_ChIP-ChIP_MESCs_Mouse2.84708580
9MYC_18358816_ChIP-ChIP_MESCs_Mouse2.80158474
10EST1_17652178_ChIP-ChIP_JURKAT_Human2.65891090
11KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.65356723
12ETS1_20019798_ChIP-Seq_JURKAT_Human2.56449661
13JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.50151092
14* NELFA_20434984_ChIP-Seq_ESCs_Mouse2.44075795
15GABP_17652178_ChIP-ChIP_JURKAT_Human2.42162789
16XRN2_22483619_ChIP-Seq_HELA_Human2.41447955
17CREB1_15753290_ChIP-ChIP_HEK293T_Human2.40134196
18MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.37185962
19HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.35147638
20EGR1_19374776_ChIP-ChIP_THP-1_Human2.18562215
21AR_21909140_ChIP-Seq_LNCAP_Human2.15532479
22CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.08893469
23E2F1_21310950_ChIP-Seq_MCF-7_Human2.04517753
24E2F1_18555785_ChIP-Seq_MESCs_Mouse1.98809328
25NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.97919067
26* MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.96527610
27VDR_23849224_ChIP-Seq_CD4+_Human1.94979298
28* MYCN_18555785_ChIP-Seq_MESCs_Mouse1.92162275
29* KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.87835190
30MYC_22102868_ChIP-Seq_BL_Human1.85611810
31THAP11_20581084_ChIP-Seq_MESCs_Mouse1.83594910
32DCP1A_22483619_ChIP-Seq_HELA_Human1.82771835
33POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.82724234
34FOXP3_21729870_ChIP-Seq_TREG_Human1.82308972
35NANOG_18555785_ChIP-Seq_MESCs_Mouse1.81856386
36TTF2_22483619_ChIP-Seq_HELA_Human1.81035334
37GABP_19822575_ChIP-Seq_HepG2_Human1.80672500
38CIITA_25753668_ChIP-Seq_RAJI_Human1.70237924
39ZFX_18555785_ChIP-Seq_MESCs_Mouse1.68679793
40ELF1_17652178_ChIP-ChIP_JURKAT_Human1.66831816
41* PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.62559699
42POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.61961159
43YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.58330396
44CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.55384191
45SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.54541212
46ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.50372229
47YY1_21170310_ChIP-Seq_MESCs_Mouse1.49515095
48KDM5A_27292631_Chip-Seq_BREAST_Human1.47038219
49HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.46960941
50TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.46204262
51SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.43622926
52ELK1_19687146_ChIP-ChIP_HELA_Human1.42604256
53STAT3_1855785_ChIP-Seq_MESCs_Mouse1.39695648
54PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.38374173
55SOX2_18555785_ChIP-Seq_MESCs_Mouse1.35057764
56KLF4_18555785_ChIP-Seq_MESCs_Mouse1.33907339
57POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.33443673
58FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.31006013
59TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.28868440
60ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.24143520
61HOXB4_20404135_ChIP-ChIP_EML_Mouse1.22963013
62* MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.22365079
63DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.22138217
64RBPJ_22232070_ChIP-Seq_NCS_Mouse1.22027867
65KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.20429303
66CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.19209324
67KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.19120686
68TP63_19390658_ChIP-ChIP_HaCaT_Human1.19108595
69ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.16160336
70E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.15427754
71* TFEB_21752829_ChIP-Seq_HELA_Human1.13993183
72SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.13955135
73ESR1_15608294_ChIP-ChIP_MCF-7_Human1.12869960
74SOX17_20123909_ChIP-Seq_XEN_Mouse1.09258769
75TCF3_18692474_ChIP-Seq_MEFs_Mouse1.07967119
76PADI4_21655091_ChIP-ChIP_MCF-7_Human1.07018082
77NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.06469137
78* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.06354146
79CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.05059820
80VDR_21846776_ChIP-Seq_THP-1_Human1.04563911
81ZNF263_19887448_ChIP-Seq_K562_Human1.04509167
82SRF_21415370_ChIP-Seq_HL-1_Mouse1.04437305
83ERG_20887958_ChIP-Seq_HPC-7_Mouse1.02816767
84DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.01874666
85* NANOG_21062744_ChIP-ChIP_HESCs_Human1.01705243
86CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.99924473
87TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.99117278
88SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.98486233
89TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.96496748
90NANOG_16153702_ChIP-ChIP_HESCs_Human0.96260655
91FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.94503993
92KLF5_18264089_ChIP-ChIP_MESCs_Mouse0.93510679
93KLF4_18264089_ChIP-ChIP_MESCs_Mouse0.93510679
94KLF2_18264089_ChIP-ChIP_MESCs_Mouse0.93510679
95OCT4_18692474_ChIP-Seq_MEFs_Mouse0.93240020
96NACC1_18358816_ChIP-ChIP_MESCs_Mouse0.92804705
97BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.91147475
98TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.91115872
99SOX2_18692474_ChIP-Seq_MEFs_Mouse0.89899590
100SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.88973486
101E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.88907638
102PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.88647911
103SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.87110948
104SOX2_16153702_ChIP-ChIP_HESCs_Human0.86656482
105ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.86492166
106TBX5_21415370_ChIP-Seq_HL-1_Mouse0.85978633
107NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.84360362
108TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse0.84325919
109HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.83808668
110ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.83772412
111* GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.82591775
112SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.81569560
113CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.81053045

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching5.18386158
2MP0010094_abnormal_chromosome_stability4.72231538
3MP0003111_abnormal_nucleus_morphology4.63879493
4MP0004957_abnormal_blastocyst_morpholog4.53255309
5MP0003077_abnormal_cell_cycle4.06811088
6MP0008057_abnormal_DNA_replication3.74915757
7MP0008058_abnormal_DNA_repair3.19832855
8MP0008007_abnormal_cellular_replicative2.91631209
9MP0003123_paternal_imprinting2.90520303
10MP0010352_gastrointestinal_tract_polyps2.83353582
11MP0008932_abnormal_embryonic_tissue2.77491347
12MP0001730_embryonic_growth_arrest2.70809056
13MP0000350_abnormal_cell_proliferation2.46486464
14MP0009697_abnormal_copulation2.22876258
15MP0008877_abnormal_DNA_methylation2.16704268
16MP0010307_abnormal_tumor_latency2.05713008
17MP0001697_abnormal_embryo_size1.99184494
18MP0002396_abnormal_hematopoietic_system1.98457772
19MP0001672_abnormal_embryogenesis/_devel1.97450363
20MP0005380_embryogenesis_phenotype1.97450363
21MP0010030_abnormal_orbit_morphology1.92419732
22MP0003786_premature_aging1.86343413
23MP0002085_abnormal_embryonic_tissue1.84583109
24MP0002080_prenatal_lethality1.83131716
25MP0002084_abnormal_developmental_patter1.80225795
26MP0003984_embryonic_growth_retardation1.77359183
27MP0002088_abnormal_embryonic_growth/wei1.72955985
28MP0000537_abnormal_urethra_morphology1.71725075
29MP0002877_abnormal_melanocyte_morpholog1.70848266
30MP0004197_abnormal_fetal_growth/weight/1.70135108
31MP0000490_abnormal_crypts_of1.62800840
32MP0003121_genomic_imprinting1.62566099
33MP0002086_abnormal_extraembryonic_tissu1.58284485
34MP0002653_abnormal_ependyma_morphology1.52232827
35MP0005076_abnormal_cell_differentiation1.49103082
36MP0000313_abnormal_cell_death1.48875071
37MP0003890_abnormal_embryonic-extraembry1.46242915
38MP0004808_abnormal_hematopoietic_stem1.45802690
39MP0003567_abnormal_fetal_cardiomyocyte1.41953549
40MP0001346_abnormal_lacrimal_gland1.41815799
41MP0002019_abnormal_tumor_incidence1.41042518
42MP0003705_abnormal_hypodermis_morpholog1.37715467
43MP0009053_abnormal_anal_canal1.36965375
44MP0003119_abnormal_digestive_system1.35753603
45MP0001293_anophthalmia1.32198563
46MP0003315_abnormal_perineum_morphology1.29640036
47MP0004133_heterotaxia1.25461192
48MP0004272_abnormal_basement_membrane1.25157762
49MP0005257_abnormal_intraocular_pressure1.24400130
50MP0003385_abnormal_body_wall1.19003678
51MP0002210_abnormal_sex_determination1.17302720
52MP0006035_abnormal_mitochondrial_morpho1.16992145
53MP0002938_white_spotting1.15567022
54MP0005623_abnormal_meninges_morphology1.12645071
55MP0003941_abnormal_skin_development1.09347382
56MP0001145_abnormal_male_reproductive1.09105081
57MP0003718_maternal_effect1.07658175
58MP0002160_abnormal_reproductive_system1.07480060
59MP0005501_abnormal_skin_physiology1.03614696
60MP0000566_synostosis1.01451217
61MP0005397_hematopoietic_system_phenotyp1.00893940
62MP0001545_abnormal_hematopoietic_system1.00893940
63MP0000358_abnormal_cell_content/0.99995190
64MP0009672_abnormal_birth_weight0.99626923
65MP0000703_abnormal_thymus_morphology0.99600100
66MP0001299_abnormal_eye_distance/0.99203385
67MP0003283_abnormal_digestive_organ0.99032869
68MP0002111_abnormal_tail_morphology0.98564085
69MP0006054_spinal_hemorrhage0.98369804
70MP0002233_abnormal_nose_morphology0.94440470
71MP0001849_ear_inflammation0.94126957
72MP0004185_abnormal_adipocyte_glucose0.93999316
73MP0003806_abnormal_nucleotide_metabolis0.93842345
74MP0009278_abnormal_bone_marrow0.93190392
75MP0009333_abnormal_splenocyte_physiolog0.91879163
76MP0000428_abnormal_craniofacial_morphol0.90888415
77MP0004233_abnormal_muscle_weight0.89244971
78MP0001915_intracranial_hemorrhage0.86979998
79MP0005384_cellular_phenotype0.86848965
80MP0000653_abnormal_sex_gland0.85560031
81MP0001929_abnormal_gametogenesis0.84690280
82MP0008260_abnormal_autophagy0.84613874
83MP0000858_altered_metastatic_potential0.84457785
84MP0005023_abnormal_wound_healing0.84223505
85MP0001661_extended_life_span0.83206127
86MP0008438_abnormal_cutaneous_collagen0.82559290
87MP0003221_abnormal_cardiomyocyte_apopto0.81911078
88MP0002254_reproductive_system_inflammat0.81062993
89MP0000762_abnormal_tongue_morphology0.79004218
90MP0003186_abnormal_redox_activity0.78398259
91MP0003566_abnormal_cell_adhesion0.78371316
92MP0009703_decreased_birth_body0.78360859
93MP0005621_abnormal_cell_physiology0.78311574
94MP0003755_abnormal_palate_morphology0.78269071
95MP0001529_abnormal_vocalization0.77637441
96MP0002796_impaired_skin_barrier0.76588829
97MP0002722_abnormal_immune_system0.76474528
98MP0005389_reproductive_system_phenotype0.76305024
99MP0003937_abnormal_limbs/digits/tail_de0.76003989
100MP0003115_abnormal_respiratory_system0.75000689
101MP0003861_abnormal_nervous_system0.73207361
102MP0005408_hypopigmentation0.73015385
103MP0002398_abnormal_bone_marrow0.72848931
104MP0002092_abnormal_eye_morphology0.71851377
105MP0003942_abnormal_urinary_system0.70080272
106MP0000477_abnormal_intestine_morphology0.67697523
107MP0000579_abnormal_nail_morphology0.66767392
108MP0001286_abnormal_eye_development0.66565205
109MP0004264_abnormal_extraembryonic_tissu0.65632014
110MP0000689_abnormal_spleen_morphology0.65483852
111MP0001119_abnormal_female_reproductive0.64247842
112MP0006292_abnormal_olfactory_placode0.64110943
113MP0003763_abnormal_thymus_physiology0.63707882
114MP0008789_abnormal_olfactory_epithelium0.61370086
115MP0001727_abnormal_embryo_implantation0.60703805
116MP0002081_perinatal_lethality0.59941054
117MP0009250_abnormal_appendicular_skeleto0.59912079
118MP0002697_abnormal_eye_size0.59768041
119MP0003935_abnormal_craniofacial_develop0.59233329
120MP0002114_abnormal_axial_skeleton0.58852239
121MP0008770_decreased_survivor_rate0.58605686
122MP0002932_abnormal_joint_morphology0.57944180
123MP0000750_abnormal_muscle_regeneration0.57453119
124MP0002751_abnormal_autonomic_nervous0.56063801
125MP0000049_abnormal_middle_ear0.55963831
126MP0000432_abnormal_head_morphology0.55884506
127MP0002075_abnormal_coat/hair_pigmentati0.55748283
128MP0002925_abnormal_cardiovascular_devel0.55419147

Predicted human phenotypes

RankGene SetZ-score
1Birth length less than 3rd percentile (HP:0003561)4.35148174
2Ependymoma (HP:0002888)4.05920830
3Colon cancer (HP:0003003)3.87783204
4Selective tooth agenesis (HP:0001592)3.84239253
5Medulloblastoma (HP:0002885)3.55410769
6Breast hypoplasia (HP:0003187)3.46484821
7Reticulocytopenia (HP:0001896)3.42676301
8Patellar aplasia (HP:0006443)3.40450323
9Aplasia/Hypoplasia of the patella (HP:0006498)3.21538617
10Abnormality of the anterior horn cell (HP:0006802)3.19770085
11Degeneration of anterior horn cells (HP:0002398)3.19770085
12Oral leukoplakia (HP:0002745)3.10837907
13Carpal bone hypoplasia (HP:0001498)3.09799377
14Cortical dysplasia (HP:0002539)3.09790920
15Chromsome breakage (HP:0040012)3.03709594
16Agnosia (HP:0010524)2.94115297
17Chromosomal breakage induced by crosslinking agents (HP:0003221)2.82639243
18Meckel diverticulum (HP:0002245)2.80542254
19Abnormality of the labia minora (HP:0012880)2.79282903
20Rhabdomyosarcoma (HP:0002859)2.74096133
21Spastic diplegia (HP:0001264)2.73990084
22Aplasia/Hypoplasia of the sacrum (HP:0008517)2.73963010
23Abnormality of the ileum (HP:0001549)2.72989451
24Abnormality of the astrocytes (HP:0100707)2.72731291
25Astrocytoma (HP:0009592)2.72731291
26Abnormality of cells of the erythroid lineage (HP:0012130)2.69578634
27Increased nuchal translucency (HP:0010880)2.69094638
28Absent radius (HP:0003974)2.68096155
29Neoplasm of the pancreas (HP:0002894)2.65326597
30Microvesicular hepatic steatosis (HP:0001414)2.65026655
31Abnormality of chromosome stability (HP:0003220)2.57983667
32Absent thumb (HP:0009777)2.57507377
33Abnormal number of incisors (HP:0011064)2.55424795
34Proximal placement of thumb (HP:0009623)2.55231567
35Cerebral hypomyelination (HP:0006808)2.54352271
36Glioma (HP:0009733)2.52356204
37Abnormal number of erythroid precursors (HP:0012131)2.50060818
38Trismus (HP:0000211)2.49870260
39Aplasia involving forearm bones (HP:0009822)2.49314598
40Absent forearm bone (HP:0003953)2.49314598
41Rough bone trabeculation (HP:0100670)2.49166489
42Aplasia/Hypoplasia of the uvula (HP:0010293)2.48730312
43Basal cell carcinoma (HP:0002671)2.46576111
44Deviation of the thumb (HP:0009603)2.45171842
45Abnormality of the preputium (HP:0100587)2.43055535
46Nephroblastoma (Wilms tumor) (HP:0002667)2.42867628
47Abnormality of glycolysis (HP:0004366)2.41518647
48Small intestinal stenosis (HP:0012848)2.36680738
49Duodenal stenosis (HP:0100867)2.36680738
50Microretrognathia (HP:0000308)2.35827772
51Atresia of the external auditory canal (HP:0000413)2.34206044
52Supernumerary spleens (HP:0009799)2.33873083
53Multiple enchondromatosis (HP:0005701)2.31944880
54Impulsivity (HP:0100710)2.31750931
55Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.29039336
56Abnormal lung lobation (HP:0002101)2.27582026
57Embryonal renal neoplasm (HP:0011794)2.26964593
58Renal duplication (HP:0000075)2.25609186
59Atrophy/Degeneration involving motor neurons (HP:0007373)2.25544686
60Aplastic anemia (HP:0001915)2.25394158
61Missing ribs (HP:0000921)2.25060497
62Abnormality of abdominal situs (HP:0011620)2.24560230
63Abdominal situs inversus (HP:0003363)2.24560230
6411 pairs of ribs (HP:0000878)2.24442399
65Tracheoesophageal fistula (HP:0002575)2.23126820
66Progressive muscle weakness (HP:0003323)2.22897802
67Myelodysplasia (HP:0002863)2.21963897
68Microglossia (HP:0000171)2.21310845
69Abnormality of the umbilical cord (HP:0010881)2.17217919
70Premature graying of hair (HP:0002216)2.16411126
71Increased serum pyruvate (HP:0003542)2.13203581
72Neoplasm of striated muscle (HP:0009728)2.13098973
73Premature rupture of membranes (HP:0001788)2.12520791
74Duplication of thumb phalanx (HP:0009942)2.11491313
75Slender long bone (HP:0003100)2.10588309
76Aplasia/hypoplasia of the humerus (HP:0006507)2.09151995
77Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.08876546
78Short 4th metacarpal (HP:0010044)2.08876546
79Horseshoe kidney (HP:0000085)2.07012812
80Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)2.06141127
81Absent epiphyses (HP:0010577)2.06141127
82Neoplasm of the oral cavity (HP:0100649)2.06055689
83Sloping forehead (HP:0000340)2.05901391
84Progressive external ophthalmoplegia (HP:0000590)2.05275827
85Hypoplasia of the capital femoral epiphysis (HP:0003090)2.03849440
86Overriding aorta (HP:0002623)2.02849458
87High pitched voice (HP:0001620)2.02303592
88Cafe-au-lait spot (HP:0000957)2.00526690
89Abnormality of the calcaneus (HP:0008364)1.99427496
90Abnormality of the duodenum (HP:0002246)1.99246556
91Aplasia/Hypoplasia of the sternum (HP:0006714)1.99221892
92Adenoma sebaceum (HP:0009720)1.98337666
93Angiofibromas (HP:0010615)1.98337666
94Insomnia (HP:0100785)1.97902943
95Neoplasm of the colon (HP:0100273)1.97524603
96Bone marrow hypocellularity (HP:0005528)1.96976925
97Broad distal phalanx of finger (HP:0009836)1.96835840
98Macrocytic anemia (HP:0001972)1.95359511
99Ectopic kidney (HP:0000086)1.94952747
100Abnormality of the carotid arteries (HP:0005344)1.94685533
101Pelvic girdle muscle weakness (HP:0003749)1.94658023
102Secondary amenorrhea (HP:0000869)1.94303959
103Triphalangeal thumb (HP:0001199)1.91236270
104Facial hemangioma (HP:0000329)1.91053105
105Cellular immunodeficiency (HP:0005374)1.90889271
106Choanal atresia (HP:0000453)1.85549736
107Glossoptosis (HP:0000162)1.85502788
108Amaurosis fugax (HP:0100576)1.84912347
109Ovarian neoplasm (HP:0100615)1.84518211
110Pallor (HP:0000980)1.84325427
111Abnormal gallbladder physiology (HP:0012438)1.84213590
112Cholecystitis (HP:0001082)1.84213590
113Cleft eyelid (HP:0000625)1.83440640
114Facial cleft (HP:0002006)1.83412842
115High anterior hairline (HP:0009890)1.82504453
116Shoulder girdle muscle weakness (HP:0003547)1.81311811
117Premature ovarian failure (HP:0008209)1.81237054
118Hypoplastic pelvis (HP:0008839)1.81232997
119Hyperacusis (HP:0010780)1.79590267
120Biliary tract neoplasm (HP:0100574)1.78528099
121Abnormality of the fetal cardiovascular system (HP:0010948)1.77276099
122Abnormal umbilical cord blood vessels (HP:0011403)1.77276099
123Single umbilical artery (HP:0001195)1.77276099
124Elfin facies (HP:0004428)1.77224451
125Overlapping toe (HP:0001845)1.77205200
126Squamous cell carcinoma (HP:0002860)1.76172420
127Pancytopenia (HP:0001876)1.74997425
128Testicular atrophy (HP:0000029)1.74669842
129Preauricular skin tag (HP:0000384)1.74225218
130Freckling (HP:0001480)1.74201929
131Short thumb (HP:0009778)1.72824539
132Calcaneovalgus deformity (HP:0001848)1.68149007
133Abnormality of cochlea (HP:0000375)1.65580609
134Abnormalities of placenta or umbilical cord (HP:0001194)1.64738987
135Type I transferrin isoform profile (HP:0003642)1.63369224
136Postnatal microcephaly (HP:0005484)1.62678136
137Abnormality of reticulocytes (HP:0004312)1.62179527
138Breech presentation (HP:0001623)1.58809562
139Gout (HP:0001997)1.57691817
140Arteriovenous malformation (HP:0100026)1.56158000
141Trigonocephaly (HP:0000243)1.56008621
142Ankle contracture (HP:0006466)1.54156818

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB14.75508927
2CDC74.52344417
3WEE14.17589141
4NEK23.06765430
5NEK13.03964305
6VRK22.91090676
7PBK2.64680888
8TSSK62.58731668
9EIF2AK12.38624080
10SMG12.38341716
11TTK2.31320511
12TESK22.27808336
13SRPK12.27511298
14EEF2K2.23492200
15SCYL22.12236278
16PASK2.10453731
17ACVR1B2.09361713
18PLK12.02870326
19RPS6KB21.91349468
20PLK41.88078950
21BRSK21.87384634
22CDK71.74281867
23ATR1.70568533
24CDK121.67181612
25PLK31.63942090
26AURKB1.59289342
27MAP3K101.54442033
28TAF11.50743396
29MKNK11.50197203
30PAK41.48920944
31CCNB11.46000929
32TGFBR11.43968276
33BRSK11.43392463
34MAP3K81.42930564
35CHEK21.38910700
36TESK11.38869698
37PKN21.38327431
38STK161.35779643
39EPHA21.35157523
40AURKA1.34388783
41DYRK31.30867251
42VRK11.29504916
43CDK41.28896374
44RPS6KA41.26903161
45CHEK11.25023387
46EIF2AK31.20125799
47STK101.14557477
48TLK11.13044728
49NME21.09566642
50NME11.03068944
51ALK0.96453651
52LATS20.95042968
53LATS10.93948352
54FLT30.90996760
55MAPKAPK30.90957347
56CDK20.88842087
57IRAK30.88227875
58ARAF0.83011462
59TRIM280.82393165
60LRRK20.80496799
61ATM0.80095963
62STK40.78910769
63PAK10.75873142
64ERBB40.72357696
65MKNK20.70006932
66CDK60.69474836
67BRD40.69157405
68MST1R0.68715149
69TAOK20.68642806
70PIM10.66090396
71LIMK10.65647616
72CDK10.64960926
73TRIB30.63669658
74PDGFRA0.63025761
75CSNK2A20.62162618
76PRKCI0.62089991
77MAP3K110.61927329
78EIF2AK20.61630113
79KDR0.61380696
80DAPK10.59385264
81MET0.58839711
82CSNK2A10.57799505
83PIM20.57314717
84MTOR0.55537435
85ZAK0.53654015
86MAP3K90.51957251
87BRAF0.51604875
88MST40.51070202
89MELK0.50526600
90CDK80.49570723
91PDK30.49339213
92PDK40.49339213
93AKT20.48551763
94PTK20.48469792
95CDK90.48362039
96KSR10.43158005
97BMX0.42543765
98CDK190.41205710
99FGFR10.40440491
100STK30.38840012
101PAK20.38729736
102ILK0.38608260
103CDK11A0.38248169
104GRK60.37909251
105CSNK1E0.37810855
106CDK140.37277009
107CDK180.36697478
108CDK150.36389786
109NUAK10.36371049
110MAP2K30.34170794
111NTRK10.34144220
112PRKDC0.33539080
113RAF10.27414426
114ERBB30.26179023
115DYRK20.24874961
116MAP4K10.24545188
117PNCK0.24185292
118MAPK140.20843701
119ICK0.20464451
120TTN0.18785393
121CLK10.18685297
122RPS6KA10.18587836

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030305.28135296
2Mismatch repair_Homo sapiens_hsa034304.52188257
3Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.54206017
4Spliceosome_Homo sapiens_hsa030403.53802410
5RNA transport_Homo sapiens_hsa030133.29001925
6Base excision repair_Homo sapiens_hsa034103.23617151
7Proteasome_Homo sapiens_hsa030503.20409783
8Homologous recombination_Homo sapiens_hsa034402.97579922
9Cell cycle_Homo sapiens_hsa041102.93604163
10Nucleotide excision repair_Homo sapiens_hsa034202.90925633
11Ribosome_Homo sapiens_hsa030102.82990589
12Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.80416571
13RNA polymerase_Homo sapiens_hsa030202.73493142
14One carbon pool by folate_Homo sapiens_hsa006702.71787904
15Pyrimidine metabolism_Homo sapiens_hsa002402.25093221
16Fanconi anemia pathway_Homo sapiens_hsa034602.06578448
17Non-homologous end-joining_Homo sapiens_hsa034502.03700358
18mRNA surveillance pathway_Homo sapiens_hsa030151.92471096
19RNA degradation_Homo sapiens_hsa030181.76074663
20p53 signaling pathway_Homo sapiens_hsa041151.74657431
21Basal transcription factors_Homo sapiens_hsa030221.57159097
22Oocyte meiosis_Homo sapiens_hsa041141.29637274
23Epstein-Barr virus infection_Homo sapiens_hsa051691.23463242
24Pyruvate metabolism_Homo sapiens_hsa006201.23302544
25Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.17585721
26Purine metabolism_Homo sapiens_hsa002301.15962447
27Biosynthesis of amino acids_Homo sapiens_hsa012301.14585262
28Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.12501888
29Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.12288419
30Viral carcinogenesis_Homo sapiens_hsa052031.08273675
31* Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.05533797
32Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.03081866
33Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.02883689
34Systemic lupus erythematosus_Homo sapiens_hsa053221.01788420
35Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.00498927
36Protein export_Homo sapiens_hsa030600.98648959
37Fatty acid elongation_Homo sapiens_hsa000620.98463578
38Steroid biosynthesis_Homo sapiens_hsa001000.90163589
39Pentose phosphate pathway_Homo sapiens_hsa000300.88788119
40Antigen processing and presentation_Homo sapiens_hsa046120.87089910
41HTLV-I infection_Homo sapiens_hsa051660.86823816
42Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.85012324
43Cysteine and methionine metabolism_Homo sapiens_hsa002700.81731218
44Thyroid cancer_Homo sapiens_hsa052160.79604973
45Cyanoamino acid metabolism_Homo sapiens_hsa004600.79236143
46Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.77464900
47Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.77063099
48Herpes simplex infection_Homo sapiens_hsa051680.74841353
492-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.74465993
50Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.74028867
51Hippo signaling pathway_Homo sapiens_hsa043900.73842326
52MicroRNAs in cancer_Homo sapiens_hsa052060.72801308
53Selenocompound metabolism_Homo sapiens_hsa004500.71675533
54Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.70688572
55Colorectal cancer_Homo sapiens_hsa052100.70027423
56Carbon metabolism_Homo sapiens_hsa012000.66327640
57Parkinsons disease_Homo sapiens_hsa050120.64600423
58Basal cell carcinoma_Homo sapiens_hsa052170.63622398
59Folate biosynthesis_Homo sapiens_hsa007900.62450989
60Small cell lung cancer_Homo sapiens_hsa052220.61615706
61Central carbon metabolism in cancer_Homo sapiens_hsa052300.60991375
62Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.60906213
63Bladder cancer_Homo sapiens_hsa052190.60047815
64Lysine degradation_Homo sapiens_hsa003100.59590779
65Legionellosis_Homo sapiens_hsa051340.59585602
66Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.56231091
67Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.55396972
68Sulfur relay system_Homo sapiens_hsa041220.54352986
69Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.53800591
70Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.52874361
71N-Glycan biosynthesis_Homo sapiens_hsa005100.52712196
72Alcoholism_Homo sapiens_hsa050340.50488964
73Chronic myeloid leukemia_Homo sapiens_hsa052200.50065999
74Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.49660568
75Drug metabolism - other enzymes_Homo sapiens_hsa009830.48747632
76Hedgehog signaling pathway_Homo sapiens_hsa043400.47207858
77mTOR signaling pathway_Homo sapiens_hsa041500.46995419
78Shigellosis_Homo sapiens_hsa051310.46736403
79Fructose and mannose metabolism_Homo sapiens_hsa000510.46104360
80TGF-beta signaling pathway_Homo sapiens_hsa043500.46008346
81Apoptosis_Homo sapiens_hsa042100.44825411
82Arginine and proline metabolism_Homo sapiens_hsa003300.43727809
83HIF-1 signaling pathway_Homo sapiens_hsa040660.43063051
84Oxidative phosphorylation_Homo sapiens_hsa001900.41794370
85Notch signaling pathway_Homo sapiens_hsa043300.41173340
86Metabolic pathways_Homo sapiens_hsa011000.37360519
87Transcriptional misregulation in cancer_Homo sapiens_hsa052020.37294038
88Hepatitis B_Homo sapiens_hsa051610.36699621
89Propanoate metabolism_Homo sapiens_hsa006400.36291587
90Glutathione metabolism_Homo sapiens_hsa004800.33691494
91Pathways in cancer_Homo sapiens_hsa052000.32674568
92Adherens junction_Homo sapiens_hsa045200.32217921
93Primary immunodeficiency_Homo sapiens_hsa053400.32024604
94Vibrio cholerae infection_Homo sapiens_hsa051100.31430048
95Non-small cell lung cancer_Homo sapiens_hsa052230.30055043
96Viral myocarditis_Homo sapiens_hsa054160.27857721
97Vitamin B6 metabolism_Homo sapiens_hsa007500.27736725
98Fatty acid metabolism_Homo sapiens_hsa012120.27238000
99Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.26927718
100Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.26777654
101Huntingtons disease_Homo sapiens_hsa050160.25820163
102Alzheimers disease_Homo sapiens_hsa050100.24851457
103Endometrial cancer_Homo sapiens_hsa052130.23740909
104Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.23103234
105Acute myeloid leukemia_Homo sapiens_hsa052210.22740808
106Proteoglycans in cancer_Homo sapiens_hsa052050.22573952
107Wnt signaling pathway_Homo sapiens_hsa043100.21956304
108Arginine biosynthesis_Homo sapiens_hsa002200.21904243
109Galactose metabolism_Homo sapiens_hsa000520.21673372
110Melanoma_Homo sapiens_hsa052180.19393215
111Tight junction_Homo sapiens_hsa045300.19203749
112Thyroid hormone signaling pathway_Homo sapiens_hsa049190.18886439
113Renin-angiotensin system_Homo sapiens_hsa046140.18421442
114Pancreatic cancer_Homo sapiens_hsa052120.15987582
115Prostate cancer_Homo sapiens_hsa052150.15441098
116Neurotrophin signaling pathway_Homo sapiens_hsa047220.15262602
117Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.14426597
118Measles_Homo sapiens_hsa051620.12462491
119PI3K-Akt signaling pathway_Homo sapiens_hsa041510.11067521
120Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.09919168
121Influenza A_Homo sapiens_hsa051640.09631969
122Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.08968083
123VEGF signaling pathway_Homo sapiens_hsa043700.06593625
124FoxO signaling pathway_Homo sapiens_hsa040680.06070762
125Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.05690271

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