CTPS1

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 an enzyme responsible for the catalytic conversion of UTP (uridine triphosphate) to CTP (cytidine triphospate). This reaction is an important step in the biosynthesis of phospholipids and nucleic acids. Activity of this proten is important in the immune system, and loss of function of this gene has been associated with immunodeficiency. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1DNA unwinding involved in DNA replication (GO:0006268)5.60707364
2nuclear pore complex assembly (GO:0051292)5.52755133
3DNA strand elongation involved in DNA replication (GO:0006271)5.49135237
4DNA strand elongation (GO:0022616)5.30920956
5nuclear pore organization (GO:0006999)4.97584883
6telomere maintenance via semi-conservative replication (GO:0032201)4.89049626
7mitotic sister chromatid segregation (GO:0000070)4.76244365
8mitotic chromosome condensation (GO:0007076)4.69418065
9establishment of integrated proviral latency (GO:0075713)4.68618992
10protein localization to kinetochore (GO:0034501)4.63690269
11DNA replication checkpoint (GO:0000076)4.57069157
12DNA replication initiation (GO:0006270)4.55776051
13mitotic metaphase plate congression (GO:0007080)4.48113962
14sister chromatid segregation (GO:0000819)4.47678745
15protein localization to chromosome, centromeric region (GO:0071459)4.37999381
16telomere maintenance via recombination (GO:0000722)4.17704485
17mitotic sister chromatid cohesion (GO:0007064)4.09581115
18pore complex assembly (GO:0046931)4.08498380
19mitotic recombination (GO:0006312)4.06793721
20IMP biosynthetic process (GO:0006188)4.04585984
21ribosome assembly (GO:0042255)4.02022396
22mitotic nuclear envelope disassembly (GO:0007077)3.99555427
23chromatin remodeling at centromere (GO:0031055)3.97406963
24CENP-A containing nucleosome assembly (GO:0034080)3.96989628
25folic acid-containing compound biosynthetic process (GO:0009396)3.91949607
26formation of translation preinitiation complex (GO:0001731)3.87703737
27metaphase plate congression (GO:0051310)3.78939378
28purine nucleobase biosynthetic process (GO:0009113)3.76358734
29nuclear envelope disassembly (GO:0051081)3.74953266
30membrane disassembly (GO:0030397)3.74953266
31nucleobase biosynthetic process (GO:0046112)3.74466379
32regulation of translational fidelity (GO:0006450)3.71850633
33negative regulation of mRNA splicing, via spliceosome (GO:0048025)3.66415847
34establishment of viral latency (GO:0019043)3.65377738
35IMP metabolic process (GO:0046040)3.63835134
36non-recombinational repair (GO:0000726)3.55478422
37double-strand break repair via nonhomologous end joining (GO:0006303)3.55478422
38nucleotide-excision repair, DNA gap filling (GO:0006297)3.51851954
39DNA duplex unwinding (GO:0032508)3.51005262
40regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)3.49517465
41ribosome biogenesis (GO:0042254)3.47253750
42heterochromatin organization (GO:0070828)3.45535916
43telomere maintenance via telomere lengthening (GO:0010833)3.43864133
44regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.40930473
45DNA replication-independent nucleosome assembly (GO:0006336)3.40739466
46DNA replication-independent nucleosome organization (GO:0034724)3.40739466
47protein complex localization (GO:0031503)3.40476316
48DNA geometric change (GO:0032392)3.40298369
49regulation of centriole replication (GO:0046599)3.39526681
50L-serine metabolic process (GO:0006563)3.37487351
51negative regulation of mRNA processing (GO:0050686)3.37339148
52DNA replication-dependent nucleosome assembly (GO:0006335)3.36103386
53DNA replication-dependent nucleosome organization (GO:0034723)3.36103386
54establishment of chromosome localization (GO:0051303)3.32757551
55tRNA aminoacylation for protein translation (GO:0006418)3.32719520
56spindle checkpoint (GO:0031577)3.30037876
57histone exchange (GO:0043486)3.29042128
58negative regulation of chromosome segregation (GO:0051985)3.27274190
59amino acid activation (GO:0043038)3.26972532
60tRNA aminoacylation (GO:0043039)3.26972532
61DNA ligation (GO:0006266)3.26525604
62DNA topological change (GO:0006265)3.25947771
63chromosome condensation (GO:0030261)3.19423416
64regulation of chromosome segregation (GO:0051983)3.19365112
65DNA conformation change (GO:0071103)3.15958519
66negative regulation of sister chromatid segregation (GO:0033046)3.15099233
67negative regulation of mitotic metaphase/anaphase transition (GO:0045841)3.15099233
68negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)3.15099233
69negative regulation of mitotic sister chromatid segregation (GO:0033048)3.15099233
70negative regulation of mitotic sister chromatid separation (GO:2000816)3.15099233
71mitotic spindle checkpoint (GO:0071174)3.13574725
72cellular protein complex localization (GO:0034629)3.13274296
73kinetochore organization (GO:0051383)3.12772073
74anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.12203991
75negative regulation of mRNA metabolic process (GO:1903312)3.12171190
76positive regulation of chromosome segregation (GO:0051984)3.11159941
77negative regulation of RNA splicing (GO:0033119)3.05885296
78ATP-dependent chromatin remodeling (GO:0043044)3.05857871
79negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.05105178
80viral mRNA export from host cell nucleus (GO:0046784)3.03851418
81DNA synthesis involved in DNA repair (GO:0000731)3.03530563
82nuclear envelope organization (GO:0006998)3.03464658
83ribonucleoprotein complex biogenesis (GO:0022613)3.03399509
84regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.03160079
85chromatin assembly or disassembly (GO:0006333)3.02822003
86mitotic spindle assembly checkpoint (GO:0007094)3.02203199
87chromosome segregation (GO:0007059)3.02144670
88spliceosomal snRNP assembly (GO:0000387)3.00745858
89regulation of metaphase/anaphase transition of cell cycle (GO:1902099)2.99735649
90regulation of mitotic metaphase/anaphase transition (GO:0030071)2.99735649
91spindle assembly checkpoint (GO:0071173)2.99714809
92DNA strand renaturation (GO:0000733)2.98527157
93regulation of centrosome cycle (GO:0046605)2.95715828
94DNA packaging (GO:0006323)2.95369014
95regulation of spindle organization (GO:0090224)2.94983206
96cell cycle G1/S phase transition (GO:0044843)2.94607457
97G1/S transition of mitotic cell cycle (GO:0000082)2.94607457
98proteasome assembly (GO:0043248)2.91275192
99telomere maintenance (GO:0000723)2.91245565
100telomere organization (GO:0032200)2.90536683

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXM1_23109430_ChIP-Seq_U2OS_Human4.71909605
2MYC_18555785_ChIP-Seq_MESCs_Mouse4.52849065
3E2F4_17652178_ChIP-ChIP_JURKAT_Human4.22890870
4EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.60287055
5KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.56284360
6FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human3.50148176
7HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.22082218
8MYC_19030024_ChIP-ChIP_MESCs_Mouse2.99719685
9AR_21909140_ChIP-Seq_LNCAP_Human2.94069865
10MYC_19079543_ChIP-ChIP_MESCs_Mouse2.91865735
11MYC_18358816_ChIP-ChIP_MESCs_Mouse2.85826456
12JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.75711877
13CREB1_15753290_ChIP-ChIP_HEK293T_Human2.74380483
14MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.65197472
15EST1_17652178_ChIP-ChIP_JURKAT_Human2.54308417
16E2F1_21310950_ChIP-Seq_MCF-7_Human2.47642534
17NELFA_20434984_ChIP-Seq_ESCs_Mouse2.47592691
18GABP_17652178_ChIP-ChIP_JURKAT_Human2.47276139
19ETS1_20019798_ChIP-Seq_JURKAT_Human2.46935599
20KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.43028405
21XRN2_22483619_ChIP-Seq_HELA_Human2.35870005
22CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.32248054
23THAP11_20581084_ChIP-Seq_MESCs_Mouse2.28396366
24DCP1A_22483619_ChIP-Seq_HELA_Human2.27563878
25MYCN_18555785_ChIP-Seq_MESCs_Mouse2.15491374
26TTF2_22483619_ChIP-Seq_HELA_Human2.12229290
27E2F1_18555785_ChIP-Seq_MESCs_Mouse2.04818028
28POU5F1_18555785_ChIP-Seq_MESCs_Mouse2.03167128
29YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.01754435
30E2F7_22180533_ChIP-Seq_HELA_Human10.2411517
31ZFX_18555785_ChIP-Seq_MESCs_Mouse1.95060179
32PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.92908149
33NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.90452842
34MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.87628817
35GABP_19822575_ChIP-Seq_HepG2_Human1.82442784
36MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.81676514
37ELK1_19687146_ChIP-ChIP_HELA_Human1.71139481
38FOXP3_21729870_ChIP-Seq_TREG_Human1.68733677
39CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.61467134
40NANOG_18555785_ChIP-Seq_MESCs_Mouse1.61462071
41FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.59919264
42ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.58381156
43KDM5A_27292631_Chip-Seq_BREAST_Human1.57931801
44VDR_23849224_ChIP-Seq_CD4+_Human1.50508629
45E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.45234185
46EGR1_19374776_ChIP-ChIP_THP-1_Human1.45064295
47E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.42986763
48DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.39891882
49CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.38034473
50CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.36212751
51PADI4_21655091_ChIP-ChIP_MCF-7_Human1.35412173
52HOXB4_20404135_ChIP-ChIP_EML_Mouse1.35096522
53HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.31620871
54KLF4_18555785_ChIP-Seq_MESCs_Mouse1.30053668
55ELF1_17652178_ChIP-ChIP_JURKAT_Human1.30035884
56MYC_22102868_ChIP-Seq_BL_Human1.28020622
57PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.27420074
58YY1_21170310_ChIP-Seq_MESCs_Mouse1.27227413
59PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.21750174
60CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.21416705
61POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.18850315
62SRF_21415370_ChIP-Seq_HL-1_Mouse1.17699916
63CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.15136095
64SOX2_18555785_ChIP-Seq_MESCs_Mouse1.13425670
65ERG_20887958_ChIP-Seq_HPC-7_Mouse1.12456334
66TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.09234339
67ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.08933388
68POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.08776839
69SALL1_21062744_ChIP-ChIP_HESCs_Human1.06724445
70KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.06518066
71ESR1_15608294_ChIP-ChIP_MCF-7_Human1.05831513
72SOX17_20123909_ChIP-Seq_XEN_Mouse1.02778394
73STAT3_1855785_ChIP-Seq_MESCs_Mouse1.02383056
74MYC_18940864_ChIP-ChIP_HL60_Human1.02253217
75CIITA_25753668_ChIP-Seq_RAJI_Human1.01044620
76SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.98556412
77TFEB_21752829_ChIP-Seq_HELA_Human0.98269107
78ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.96884365
79DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.96348262
80ZNF263_19887448_ChIP-Seq_K562_Human0.93096217
81HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.92744077
82CHD1_26751641_Chip-Seq_LNCaP_Human0.90482738
83BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.90334532
84CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.89681597
85TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.89480891
86SMAD4_19686287_ChIP-ChIP_HaCaT_Human0.87937645
87TP63_19390658_ChIP-ChIP_HaCaT_Human0.87107811
88NANOG_21062744_ChIP-ChIP_HESCs_Human0.86384766
89SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.85383283
90NANOG_16153702_ChIP-ChIP_HESCs_Human0.82022606
91SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.79231718
92GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.77920909
93SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.77738462
94TBX5_21415370_ChIP-Seq_HL-1_Mouse0.77595415
95NOTCH1_21737748_ChIP-Seq_TLL_Human0.77300506
96ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.74934542
97RBPJ_22232070_ChIP-Seq_NCS_Mouse0.73079659
98TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.71639698
99SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.69642239
100KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.69438385

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0010094_abnormal_chromosome_stability5.27956886
2MP0003693_abnormal_embryo_hatching4.92630928
3MP0003111_abnormal_nucleus_morphology4.77176733
4MP0004957_abnormal_blastocyst_morpholog4.38326383
5MP0008057_abnormal_DNA_replication3.94962732
6MP0003077_abnormal_cell_cycle3.85419222
7MP0008058_abnormal_DNA_repair3.84040620
8MP0008932_abnormal_embryonic_tissue3.41934889
9MP0008007_abnormal_cellular_replicative2.72748849
10MP0001730_embryonic_growth_arrest2.41475351
11MP0000350_abnormal_cell_proliferation2.24697873
12MP0009697_abnormal_copulation2.06381600
13MP0010352_gastrointestinal_tract_polyps1.90309902
14MP0005380_embryogenesis_phenotype1.88674658
15MP0001672_abnormal_embryogenesis/_devel1.88674658
16MP0003786_premature_aging1.88500442
17MP0001697_abnormal_embryo_size1.80728726
18MP0003941_abnormal_skin_development1.80085718
19MP0010030_abnormal_orbit_morphology1.77124068
20MP0002080_prenatal_lethality1.73206252
21MP0002085_abnormal_embryonic_tissue1.67770906
22MP0003984_embryonic_growth_retardation1.67705747
23MP0003718_maternal_effect1.67558171
24MP0000537_abnormal_urethra_morphology1.65593033
25MP0009672_abnormal_birth_weight1.64047269
26MP0002084_abnormal_developmental_patter1.60847815
27MP0002088_abnormal_embryonic_growth/wei1.59875044
28MP0010307_abnormal_tumor_latency1.59494173
29MP0003705_abnormal_hypodermis_morpholog1.58719175
30MP0005623_abnormal_meninges_morphology1.53645581
31MP0002877_abnormal_melanocyte_morpholog1.44423506
32MP0004233_abnormal_muscle_weight1.41616089
33MP0006035_abnormal_mitochondrial_morpho1.40912442
34MP0000313_abnormal_cell_death1.39644654
35MP0003937_abnormal_limbs/digits/tail_de1.38862462
36MP0002697_abnormal_eye_size1.32206585
37MP0004197_abnormal_fetal_growth/weight/1.31477595
38MP0001661_extended_life_span1.30984418
39MP0003890_abnormal_embryonic-extraembry1.29357043
40MP0002086_abnormal_extraembryonic_tissu1.26687609
41MP0001346_abnormal_lacrimal_gland1.25946897
42MP0000358_abnormal_cell_content/1.22434148
43MP0001293_anophthalmia1.21382386
44MP0006292_abnormal_olfactory_placode1.19277500
45MP0003315_abnormal_perineum_morphology1.19107282
46MP0009053_abnormal_anal_canal1.17715843
47MP0002396_abnormal_hematopoietic_system1.15523943
48MP0000579_abnormal_nail_morphology1.15030224
49MP0005076_abnormal_cell_differentiation1.14334393
50MP0003806_abnormal_nucleotide_metabolis1.09401137
51MP0000490_abnormal_crypts_of1.04954748
52MP0005501_abnormal_skin_physiology1.03473946
53MP0002938_white_spotting1.01386394
54MP0003566_abnormal_cell_adhesion1.00815787
55MP0002111_abnormal_tail_morphology0.98292969
56MP0001286_abnormal_eye_development0.98263434
57MP0002210_abnormal_sex_determination0.96773523
58MP0003567_abnormal_fetal_cardiomyocyte0.96024275
59MP0002019_abnormal_tumor_incidence0.91295761
60MP0004185_abnormal_adipocyte_glucose0.90163511
61MP0009703_decreased_birth_body0.89509645
62MP0000428_abnormal_craniofacial_morphol0.88069963
63MP0002092_abnormal_eye_morphology0.86802780
64MP0003385_abnormal_body_wall0.85922176
65MP0005384_cellular_phenotype0.84125648
66MP0001849_ear_inflammation0.80580795
67MP0003755_abnormal_palate_morphology0.78968981
68MP0005621_abnormal_cell_physiology0.78200766
69MP0003861_abnormal_nervous_system0.77796513
70MP0001145_abnormal_male_reproductive0.77749017
71MP0000762_abnormal_tongue_morphology0.77455529
72MP0004272_abnormal_basement_membrane0.77103020
73MP0008877_abnormal_DNA_methylation0.75597907
74MP0003221_abnormal_cardiomyocyte_apopto0.75509759
75MP0000049_abnormal_middle_ear0.75361844
76MP0002060_abnormal_skin_morphology0.74902847
77MP0002160_abnormal_reproductive_system0.74456176
78MP0002163_abnormal_gland_morphology0.74335162
79MP0001929_abnormal_gametogenesis0.74289099
80MP0002233_abnormal_nose_morphology0.74096844
81MP0004808_abnormal_hematopoietic_stem0.73381835
82MP0002796_impaired_skin_barrier0.72263340
83MP0000432_abnormal_head_morphology0.71112424
84MP0002234_abnormal_pharynx_morphology0.69475057
85MP0003119_abnormal_digestive_system0.69445021
86MP0003935_abnormal_craniofacial_develop0.68895238
87MP0001529_abnormal_vocalization0.68821035
88MP0003942_abnormal_urinary_system0.68539805
89MP0001299_abnormal_eye_distance/0.66586428
90MP0008438_abnormal_cutaneous_collagen0.65364062
91MP0000653_abnormal_sex_gland0.64673154
92MP0003123_paternal_imprinting0.64519214
93MP0001915_intracranial_hemorrhage0.63828348
94MP0002114_abnormal_axial_skeleton0.62972697
95MP0006036_abnormal_mitochondrial_physio0.62327230
96MP0005187_abnormal_penis_morphology0.61827460
97MP0009250_abnormal_appendicular_skeleto0.61459008
98MP0002081_perinatal_lethality0.60390185
99MP0003186_abnormal_redox_activity0.60347410
100MP0003950_abnormal_plasma_membrane0.58865960

Predicted human phenotypes

RankGene SetZ-score
1Chromosomal breakage induced by crosslinking agents (HP:0003221)5.49340292
2Chromsome breakage (HP:0040012)5.14839079
3Microvesicular hepatic steatosis (HP:0001414)3.40628874
4Meckel diverticulum (HP:0002245)3.30677710
5Birth length less than 3rd percentile (HP:0003561)3.28758923
6Abnormality of the preputium (HP:0100587)3.20972893
7Abnormality of chromosome stability (HP:0003220)3.11050828
8Abnormality of the ileum (HP:0001549)3.10725655
9Selective tooth agenesis (HP:0001592)3.08870988
10Increased nuchal translucency (HP:0010880)3.06190584
11Aplasia/Hypoplasia of the uvula (HP:0010293)3.03000077
12Multiple enchondromatosis (HP:0005701)2.88194353
13Reticulocytopenia (HP:0001896)2.75262377
14Duodenal stenosis (HP:0100867)2.75137013
15Small intestinal stenosis (HP:0012848)2.75137013
16Abnormality of glycolysis (HP:0004366)2.72813450
17Proximal placement of thumb (HP:0009623)2.66495057
18Ectopic kidney (HP:0000086)2.65602411
19Deviation of the thumb (HP:0009603)2.62012481
20Cortical dysplasia (HP:0002539)2.58903121
21Progressive muscle weakness (HP:0003323)2.58010473
22Abnormal number of incisors (HP:0011064)2.55415988
23Absent radius (HP:0003974)2.48197226
24Increased serum pyruvate (HP:0003542)2.42774127
25Abnormality of the labia minora (HP:0012880)2.37870976
26Nephroblastoma (Wilms tumor) (HP:0002667)2.37411580
27Horseshoe kidney (HP:0000085)2.37149521
28Abnormality of the duodenum (HP:0002246)2.35596341
29Abnormality of the carotid arteries (HP:0005344)2.34980402
30Aplasia involving forearm bones (HP:0009822)2.31121916
31Absent forearm bone (HP:0003953)2.31121916
32Abnormal lung lobation (HP:0002101)2.29888618
33Spastic diplegia (HP:0001264)2.26353044
34Abnormality of the umbilical cord (HP:0010881)2.25452799
35Trismus (HP:0000211)2.24201716
36Embryonal renal neoplasm (HP:0011794)2.23434918
37Squamous cell carcinoma (HP:0002860)2.23276415
38Myelodysplasia (HP:0002863)2.21990806
39Ependymoma (HP:0002888)2.18207792
40Colon cancer (HP:0003003)2.14655035
41Abnormality of cochlea (HP:0000375)2.12354162
42Breast hypoplasia (HP:0003187)2.10127624
43Overlapping toe (HP:0001845)2.08162209
44Volvulus (HP:0002580)2.07767659
45Aplasia/Hypoplasia of the sacrum (HP:0008517)2.07666929
46Choanal atresia (HP:0000453)2.04412281
47High anterior hairline (HP:0009890)2.02884025
48Abnormality of the fetal cardiovascular system (HP:0010948)1.96616236
49Abnormal umbilical cord blood vessels (HP:0011403)1.96616236
50Single umbilical artery (HP:0001195)1.96616236
51Sloping forehead (HP:0000340)1.96049703
52Premature rupture of membranes (HP:0001788)1.95495984
53Short thumb (HP:0009778)1.95355799
54Secondary amenorrhea (HP:0000869)1.94795783
55Triphalangeal thumb (HP:0001199)1.90781648
56Rough bone trabeculation (HP:0100670)1.90256371
57Medulloblastoma (HP:0002885)1.88636311
58Abnormality of the calcaneus (HP:0008364)1.88047667
59Entropion (HP:0000621)1.87193752
60Patellar aplasia (HP:0006443)1.86313794
61Glioma (HP:0009733)1.85453628
62Cafe-au-lait spot (HP:0000957)1.84491900
63Facial cleft (HP:0002006)1.83312942
64Progressive external ophthalmoplegia (HP:0000590)1.82307428
65Hypoplasia of the capital femoral epiphysis (HP:0003090)1.81590965
66Abnormality of methionine metabolism (HP:0010901)1.80576061
67Atresia of the external auditory canal (HP:0000413)1.80235244
68Premature ovarian failure (HP:0008209)1.79734355
69Postnatal microcephaly (HP:0005484)1.79714211
70Rhabdomyosarcoma (HP:0002859)1.79595643
71Poikiloderma (HP:0001029)1.77482891
72Duplicated collecting system (HP:0000081)1.77160946
73Type I transferrin isoform profile (HP:0003642)1.76580895
74Duplication of thumb phalanx (HP:0009942)1.75422764
75Abnormalities of placenta or umbilical cord (HP:0001194)1.73774966
76Abnormality of the astrocytes (HP:0100707)1.73184669
77Astrocytoma (HP:0009592)1.73184669
78Aplasia/Hypoplasia of the patella (HP:0006498)1.72617229
79Deep philtrum (HP:0002002)1.70925695
80Ureteral duplication (HP:0000073)1.70497649
81Abnormality of DNA repair (HP:0003254)1.70469557
82Hyperacusis (HP:0010780)1.68784641
83Short middle phalanx of the 5th finger (HP:0004220)1.67886253
84Calcaneovalgus deformity (HP:0001848)1.65877536
85Absent thumb (HP:0009777)1.64432836
86Ragged-red muscle fibers (HP:0003200)1.61622537
87Arteriovenous malformation (HP:0100026)1.60777955
88Clubbing of toes (HP:0100760)1.60624985
89Overriding aorta (HP:0002623)1.60586336
90Preauricular skin tag (HP:0000384)1.60509895
91Hypoplasia of the pons (HP:0012110)1.60051156
92Tracheoesophageal fistula (HP:0002575)1.59693765
93Long eyelashes (HP:0000527)1.59509439
94Broad distal phalanx of finger (HP:0009836)1.57347215
95Pancytopenia (HP:0001876)1.56345903
96Shoulder girdle muscle weakness (HP:0003547)1.55713866
97Neoplasm of the colon (HP:0100273)1.55079139
98Septate vagina (HP:0001153)1.55031056
99Ulnar bowing (HP:0003031)1.55004065
100Glossoptosis (HP:0000162)1.54766325

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB14.77417694
2CDC74.17461123
3SRPK13.57936775
4TTK3.52987609
5TSSK63.41102989
6NEK13.00051687
7VRK22.80190695
8PBK2.51500742
9WEE12.41859243
10EIF2AK12.36907192
11SMG12.25775210
12PLK42.20800991
13ZAK2.15284707
14MKNK12.06997289
15PLK32.06478114
16CDK122.03503104
17NME22.03374087
18CHEK21.82791440
19MKNK21.76821593
20PLK11.73804026
21ATR1.60800563
22PDK21.55097370
23TAF11.52367376
24BRSK21.50480869
25AURKB1.44271630
26BRSK11.42755575
27EIF2AK31.41912552
28CDK71.38736964
29CHEK11.34395256
30PAK41.31790319
31SCYL21.24901107
32MAP3K101.24107469
33CDK81.22362990
34NEK21.19178723
35MST41.18030497
36EEF2K1.17969912
37STK161.17570361
38VRK11.15117198
39PNCK1.08774304
40MAP3K81.06925796
41AURKA1.02440428
42ALK1.01633880
43NME10.97295516
44EIF2AK20.96215065
45RPS6KB20.93553999
46IRAK30.92212828
47CCNB10.91794135
48ATM0.91328993
49CDK40.88283323
50PASK0.86331561
51CLK10.85649728
52BRD40.81162714
53NUAK10.78277896
54LATS20.77238719
55STK40.76753299
56ICK0.76613381
57CDK10.76139364
58MST1R0.73743176
59CDK20.71687817
60LATS10.71638103
61STK100.69926099
62ERBB40.68218394
63CSNK1G30.68107156
64TRIM280.67055185
65CSNK1G10.60996390
66RPS6KA40.60598142
67PAK20.59876074
68TRIB30.59502673
69CSNK1E0.56551354
70CDK60.56496316
71CSNK2A20.55143184
72CDK90.53479845
73MELK0.52164723
74CSNK1A1L0.50573999
75CAMK1G0.50066365
76MTOR0.49969923
77CSNK2A10.49152578
78TESK10.48872613
79DAPK10.48770620
80PRKDC0.46873808
81AKT20.46688729
82EPHA20.46548118
83MET0.46000972
84BRAF0.45856881
85TTN0.41140966
86PAK10.39903743
87CDK11A0.39743916
88ILK0.39669443
89CDK180.39361760
90CDK150.38412303
91FGFR10.36930705
92CDK140.35760038
93CSNK1G20.35601047
94BCR0.34294245
95RAF10.34151250
96PTK20.33840658
97CAMK1D0.33478101
98KDR0.31586037
99STK30.31493296
100MAPKAPK50.30552524

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030305.07933544
2Mismatch repair_Homo sapiens_hsa034304.00734025
3Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.40006054
4Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009703.34314986
5Proteasome_Homo sapiens_hsa030503.06300019
6Non-homologous end-joining_Homo sapiens_hsa034502.96687553
7Base excision repair_Homo sapiens_hsa034102.88479843
8Spliceosome_Homo sapiens_hsa030402.82624713
9Cell cycle_Homo sapiens_hsa041102.79584983
10One carbon pool by folate_Homo sapiens_hsa006702.78147667
11RNA transport_Homo sapiens_hsa030132.70420956
12Homologous recombination_Homo sapiens_hsa034402.66882064
13Nucleotide excision repair_Homo sapiens_hsa034202.53024341
14RNA polymerase_Homo sapiens_hsa030202.33232838
15Fanconi anemia pathway_Homo sapiens_hsa034602.17860928
16* Pyrimidine metabolism_Homo sapiens_hsa002401.97519800
17Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.94137084
18Biosynthesis of amino acids_Homo sapiens_hsa012301.81632089
19Ribosome_Homo sapiens_hsa030101.77039764
20Cysteine and methionine metabolism_Homo sapiens_hsa002701.70637719
21mRNA surveillance pathway_Homo sapiens_hsa030151.68282913
222-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.54066458
23RNA degradation_Homo sapiens_hsa030181.43367639
24Basal transcription factors_Homo sapiens_hsa030221.38681996
25Pyruvate metabolism_Homo sapiens_hsa006201.36701993
26Vitamin B6 metabolism_Homo sapiens_hsa007501.34054765
27Selenocompound metabolism_Homo sapiens_hsa004501.33471067
28Carbon metabolism_Homo sapiens_hsa012001.27833578
29Purine metabolism_Homo sapiens_hsa002301.22360106
30Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.18084451
31Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.17920239
32Sulfur relay system_Homo sapiens_hsa041221.13538433
33p53 signaling pathway_Homo sapiens_hsa041151.13232492
34Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.12365982
35Protein export_Homo sapiens_hsa030601.09478596
36Pentose phosphate pathway_Homo sapiens_hsa000301.02053253
37Oocyte meiosis_Homo sapiens_hsa041140.97482890
38Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.96528271
39Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.93776620
40Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.92861725
41Steroid biosynthesis_Homo sapiens_hsa001000.92317501
42Folate biosynthesis_Homo sapiens_hsa007900.90888177
43Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.89205720
44Fatty acid elongation_Homo sapiens_hsa000620.84725807
45Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.80341415
46Lysine degradation_Homo sapiens_hsa003100.80298845
47N-Glycan biosynthesis_Homo sapiens_hsa005100.80051779
48Thyroid cancer_Homo sapiens_hsa052160.72801243
49Huntingtons disease_Homo sapiens_hsa050160.71913690
50Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.70753854
51Central carbon metabolism in cancer_Homo sapiens_hsa052300.70164380
52Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.69720561
53Parkinsons disease_Homo sapiens_hsa050120.65435829
54MicroRNAs in cancer_Homo sapiens_hsa052060.64499871
55Hippo signaling pathway_Homo sapiens_hsa043900.61403650
56Epstein-Barr virus infection_Homo sapiens_hsa051690.61051238
57Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.58233845
58Propanoate metabolism_Homo sapiens_hsa006400.58088098
59Adherens junction_Homo sapiens_hsa045200.57695764
60Small cell lung cancer_Homo sapiens_hsa052220.53408521
61Viral carcinogenesis_Homo sapiens_hsa052030.52820122
62Bladder cancer_Homo sapiens_hsa052190.52218043
63TGF-beta signaling pathway_Homo sapiens_hsa043500.51879967
64Fructose and mannose metabolism_Homo sapiens_hsa000510.49249310
65Basal cell carcinoma_Homo sapiens_hsa052170.44813594
66Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.44242694
67Glutathione metabolism_Homo sapiens_hsa004800.43545042
68Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.41953122
69Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.41381634
70Oxidative phosphorylation_Homo sapiens_hsa001900.39758990
71Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.39734995
72HTLV-I infection_Homo sapiens_hsa051660.39064013
73* Metabolic pathways_Homo sapiens_hsa011000.39000114
74Galactose metabolism_Homo sapiens_hsa000520.38715935
75Arginine and proline metabolism_Homo sapiens_hsa003300.37137340
76Arginine biosynthesis_Homo sapiens_hsa002200.34506266
77Wnt signaling pathway_Homo sapiens_hsa043100.34227492
78Chronic myeloid leukemia_Homo sapiens_hsa052200.33720871
79Colorectal cancer_Homo sapiens_hsa052100.33013261
80Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.32521311
81Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.29205099
82Drug metabolism - other enzymes_Homo sapiens_hsa009830.27100316
83Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.26901796
84Hedgehog signaling pathway_Homo sapiens_hsa043400.26788755
85Cyanoamino acid metabolism_Homo sapiens_hsa004600.26719796
86Fatty acid metabolism_Homo sapiens_hsa012120.25483089
87Prostate cancer_Homo sapiens_hsa052150.24236172
88Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.21993675
89Alzheimers disease_Homo sapiens_hsa050100.19408038
90Tight junction_Homo sapiens_hsa045300.17931493
91Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.17789695
92Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.17222126
93Pancreatic cancer_Homo sapiens_hsa052120.16943136
94Proteoglycans in cancer_Homo sapiens_hsa052050.15706225
95Shigellosis_Homo sapiens_hsa051310.15451863
96Melanoma_Homo sapiens_hsa052180.14100491
97Apoptosis_Homo sapiens_hsa042100.14007971
98Alcoholism_Homo sapiens_hsa050340.13297983
99Pentose and glucuronate interconversions_Homo sapiens_hsa000400.12997164
100Systemic lupus erythematosus_Homo sapiens_hsa053220.12425691

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