PAICS

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 bifunctional enzyme containing phosphoribosylaminoimidazole carboxylase activity in its N-terminal region and phosphoribosylaminoimidazole succinocarboxamide synthetase in its C-terminal region. It catalyzes steps 6 and 7 of purine biosynthesis. The gene is closely linked and divergently transcribed with a locus that encodes an enzyme in the same pathway, and transcription of the two genes is coordinately regulated. The human genome contains several pseudogenes of this gene. Multiple transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1DNA unwinding involved in DNA replication (GO:0006268)5.81616787
2DNA strand elongation involved in DNA replication (GO:0006271)5.38971062
3DNA replication initiation (GO:0006270)5.24520864
4DNA strand elongation (GO:0022616)5.13379904
5telomere maintenance via semi-conservative replication (GO:0032201)4.84595888
6* nucleobase biosynthetic process (GO:0046112)4.38265333
7telomere maintenance via recombination (GO:0000722)4.34877912
8DNA replication checkpoint (GO:0000076)4.34714438
9protein localization to kinetochore (GO:0034501)4.32338293
10formation of translation preinitiation complex (GO:0001731)4.27212612
11mitotic recombination (GO:0006312)4.25144966
12nuclear pore organization (GO:0006999)4.17226052
13mitotic metaphase plate congression (GO:0007080)4.14357279
14folic acid-containing compound biosynthetic process (GO:0009396)4.12274798
15* purine nucleobase biosynthetic process (GO:0009113)4.03043473
16DNA replication-dependent nucleosome assembly (GO:0006335)4.02531759
17DNA replication-dependent nucleosome organization (GO:0034723)4.02531759
18ribosomal small subunit assembly (GO:0000028)3.96179487
19mitotic nuclear envelope disassembly (GO:0007077)3.94113019
20CENP-A containing nucleosome assembly (GO:0034080)3.93882532
21telomere maintenance via telomere lengthening (GO:0010833)3.92722748
22* IMP biosynthetic process (GO:0006188)3.91756833
23chromatin remodeling at centromere (GO:0031055)3.91394327
24nuclear pore complex assembly (GO:0051292)3.83473334
25nucleotide-excision repair, DNA gap filling (GO:0006297)3.81406398
26establishment of viral latency (GO:0019043)3.81085056
27regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450913.72916072
28metaphase plate congression (GO:0051310)3.72239893
29heterochromatin organization (GO:0070828)3.69880518
30DNA ligation (GO:0006266)3.69461622
31kinetochore organization (GO:0051383)3.68723866
32regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.64981762
33somatic hypermutation of immunoglobulin genes (GO:0016446)3.63991526
34somatic diversification of immune receptors via somatic mutation (GO:0002566)3.63991526
35regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)3.63941562
36DNA replication-independent nucleosome assembly (GO:0006336)3.63030135
37DNA replication-independent nucleosome organization (GO:0034724)3.63030135
38maturation of SSU-rRNA (GO:0030490)3.61390494
39nuclear envelope disassembly (GO:0051081)3.61300628
40membrane disassembly (GO:0030397)3.61300628
41double-strand break repair via nonhomologous end joining (GO:0006303)3.57279139
42non-recombinational repair (GO:0000726)3.57279139
43* IMP metabolic process (GO:0046040)3.56989869
44DNA duplex unwinding (GO:0032508)3.56325961
45DNA geometric change (GO:0032392)3.56113997
46ribosome assembly (GO:0042255)3.54355699
47protein localization to chromosome, centromeric region (GO:0071459)3.53847501
48regulation of centriole replication (GO:0046599)3.50667414
49regulation of translational fidelity (GO:0006450)3.49275856
50mitotic chromosome condensation (GO:0007076)3.45076594
51regulation of spindle organization (GO:0090224)3.42118933
52attachment of spindle microtubules to kinetochore (GO:0008608)3.37220432
53ribosome biogenesis (GO:0042254)3.35833993
54protein complex localization (GO:0031503)3.34082003
55histone exchange (GO:0043486)3.28703855
56establishment of integrated proviral latency (GO:0075713)3.25291486
57establishment of chromosome localization (GO:0051303)3.24050820
58mitotic sister chromatid segregation (GO:0000070)3.20254847
59kinetochore assembly (GO:0051382)3.17449708
60negative regulation of mRNA splicing, via spliceosome (GO:0048025)3.15557131
61DNA strand renaturation (GO:0000733)3.15405584
62mitotic sister chromatid cohesion (GO:0007064)3.13525181
63ribonucleoprotein complex biogenesis (GO:0022613)3.13218612
64regulation of mitotic sister chromatid separation (GO:0010965)3.12438735
65regulation of mitotic sister chromatid segregation (GO:0033047)3.12438735
66regulation of sister chromatid segregation (GO:0033045)3.12438735
67telomere maintenance (GO:0000723)3.11192904
68telomere organization (GO:0032200)3.10940891
69folic acid metabolic process (GO:0046655)3.10455778
70ribosomal large subunit biogenesis (GO:0042273)3.10425850
71sister chromatid segregation (GO:0000819)3.09703095
72translesion synthesis (GO:0019985)3.09144933
73postreplication repair (GO:0006301)3.08261181
74mismatch repair (GO:0006298)3.07261210
75G1/S transition of mitotic cell cycle (GO:0000082)3.04501767
76cell cycle G1/S phase transition (GO:0044843)3.04501767
77DNA double-strand break processing (GO:0000729)3.04346963
78tRNA aminoacylation for protein translation (GO:0006418)3.04020102
79chromosome segregation (GO:0007059)3.03758691
80negative regulation of mRNA processing (GO:0050686)3.01173917
81pore complex assembly (GO:0046931)3.00566662
82regulation of helicase activity (GO:0051095)3.00223403
83amino acid activation (GO:0043038)2.99896054
84tRNA aminoacylation (GO:0043039)2.99896054
85spliceosomal snRNP assembly (GO:0000387)2.99429202
86DNA conformation change (GO:0071103)2.97634024
87regulation of centrosome cycle (GO:0046605)2.96950014
88negative regulation of chromosome segregation (GO:0051985)2.96448330
89negative regulation of mitotic metaphase/anaphase transition (GO:0045841)2.96046701
90negative regulation of sister chromatid segregation (GO:0033046)2.96046701
91negative regulation of mitotic sister chromatid separation (GO:2000816)2.96046701
92negative regulation of mitotic sister chromatid segregation (GO:0033048)2.96046701
93transcription-coupled nucleotide-excision repair (GO:0006283)2.96002102
94translational termination (GO:0006415)2.95113547
95spindle checkpoint (GO:0031577)2.94260693
96positive regulation of chromosome segregation (GO:0051984)2.93734406
97negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)2.93262148
98viral transcription (GO:0019083)2.93234773
99regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)2.93070623
100tetrahydrofolate metabolic process (GO:0046653)2.92393662
101DNA damage response, detection of DNA damage (GO:0042769)2.91876389
102spindle assembly checkpoint (GO:0071173)2.91066602
103regulation of mitotic metaphase/anaphase transition (GO:0030071)2.90822105
104translational initiation (GO:0006413)2.89913576
105chromatin assembly or disassembly (GO:0006333)2.89664274
106negative regulation of RNA splicing (GO:0033119)2.89137684
107chromosome condensation (GO:0030261)2.88587994
108mitotic spindle assembly checkpoint (GO:0007094)2.87672439
109pyrimidine nucleoside monophosphate biosynthetic process (GO:0009130)2.86653833
110regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)2.86192356
111regulation of chromosome segregation (GO:0051983)2.85912445
112translational elongation (GO:0006414)2.85709330
113negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)2.85669171
114rRNA processing (GO:0006364)2.85054634
115base-excision repair (GO:0006284)2.85038751
116DNA topological change (GO:0006265)2.83729293
117L-serine metabolic process (GO:0006563)2.83688893
118regulation of double-strand break repair via homologous recombination (GO:0010569)2.83205019
119regulation of metaphase/anaphase transition of cell cycle (GO:1902099)2.82921845
120DNA deamination (GO:0045006)2.82451712
121anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:02.82266279
122mitotic spindle checkpoint (GO:0071174)2.81735403
123DNA replication (GO:0006260)2.79496343
124regulation of nuclear cell cycle DNA replication (GO:0033262)2.78510002
125meiotic chromosome segregation (GO:0045132)2.77398803
126ATP-dependent chromatin remodeling (GO:0043044)2.77311403

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* MYC_18555785_ChIP-Seq_MESCs_Mouse4.33373988
2E2F4_17652178_ChIP-ChIP_JURKAT_Human3.91211695
3FOXM1_23109430_ChIP-Seq_U2OS_Human3.78113125
4EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.60265926
5FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human3.10369717
6KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.05262739
7* MYC_19079543_ChIP-ChIP_MESCs_Mouse2.92656942
8* MYC_19030024_ChIP-ChIP_MESCs_Mouse2.87635483
9EST1_17652178_ChIP-ChIP_JURKAT_Human2.83672447
10* MYC_18358816_ChIP-ChIP_MESCs_Mouse2.74374887
11AR_21909140_ChIP-Seq_LNCAP_Human2.66315283
12GABP_17652178_ChIP-ChIP_JURKAT_Human2.52893190
13CREB1_15753290_ChIP-ChIP_HEK293T_Human2.50058717
14* NELFA_20434984_ChIP-Seq_ESCs_Mouse2.45768419
15JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.42474958
16ETS1_20019798_ChIP-Seq_JURKAT_Human2.42457590
17CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.29947353
18XRN2_22483619_ChIP-Seq_HELA_Human2.22640810
19HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.17779252
20E2F1_21310950_ChIP-Seq_MCF-7_Human2.12158358
21E2F1_18555785_ChIP-Seq_MESCs_Mouse2.06415678
22MYBL2_22936984_ChIP-ChIP_MESCs_Mouse2.00376114
23E2F7_22180533_ChIP-Seq_HELA_Human10.2096500
24* KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.99796877
25EGR1_19374776_ChIP-ChIP_THP-1_Human1.98746717
26* VDR_23849224_ChIP-Seq_CD4+_Human1.96165334
27ELF1_17652178_ChIP-ChIP_JURKAT_Human1.92501546
28MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.89222314
29* MYCN_18555785_ChIP-Seq_MESCs_Mouse1.88887455
30FOXP3_21729870_ChIP-Seq_TREG_Human1.84862815
31RBPJ_22232070_ChIP-Seq_NCS_Mouse1.83830652
32PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.82340967
33DCP1A_22483619_ChIP-Seq_HELA_Human1.79455694
34NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.72495084
35* POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.70858835
36NANOG_18555785_ChIP-Seq_MESCs_Mouse1.70257263
37TTF2_22483619_ChIP-Seq_HELA_Human1.69522625
38* GABP_19822575_ChIP-Seq_HepG2_Human1.68380037
39SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.64563376
40* ZFX_18555785_ChIP-Seq_MESCs_Mouse1.61135181
41ELK1_19687146_ChIP-ChIP_HELA_Human1.61039501
42YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.60329647
43E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.59740190
44THAP11_20581084_ChIP-Seq_MESCs_Mouse1.58495859
45HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.57875434
46POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.51680702
47HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.50149336
48ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.46987072
49* FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.46156438
50HOXB4_20404135_ChIP-ChIP_EML_Mouse1.45693752
51SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.42316131
52CIITA_25753668_ChIP-Seq_RAJI_Human1.40748889
53SOX2_18555785_ChIP-Seq_MESCs_Mouse1.37351276
54POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.37315627
55TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.36563741
56SRF_21415370_ChIP-Seq_HL-1_Mouse1.34978699
57MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.33329668
58KDM5A_27292631_Chip-Seq_BREAST_Human1.32992702
59STAT3_1855785_ChIP-Seq_MESCs_Mouse1.30159876
60* CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.28757149
61PADI4_21655091_ChIP-ChIP_MCF-7_Human1.27896842
62NANOG_16153702_ChIP-ChIP_HESCs_Human1.25824738
63SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.25400055
64YY1_21170310_ChIP-Seq_MESCs_Mouse1.25317833
65MYC_22102868_ChIP-Seq_BL_Human1.21390717
66SOX2_16153702_ChIP-ChIP_HESCs_Human1.18153240
67SALL1_21062744_ChIP-ChIP_HESCs_Human1.16786468
68* ERG_20887958_ChIP-Seq_HPC-7_Mouse1.16580515
69ESR1_15608294_ChIP-ChIP_MCF-7_Human1.15872492
70* KLF4_18555785_ChIP-Seq_MESCs_Mouse1.13085240
71E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.12942687
72* KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.10680377
73TCF3_18692474_ChIP-Seq_MEFs_Mouse1.09326527
74TP63_19390658_ChIP-ChIP_HaCaT_Human1.08539833
75* PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.08390187
76SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.07313972
77ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.07292080
78TFEB_21752829_ChIP-Seq_HELA_Human1.07218574
79CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.01009007
80ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.99708947
81POU5F1_16153702_ChIP-ChIP_HESCs_Human0.98544992
82DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.96848154
83KLF5_18264089_ChIP-ChIP_MESCs_Mouse0.96596259
84KLF4_18264089_ChIP-ChIP_MESCs_Mouse0.96596259
85KLF2_18264089_ChIP-ChIP_MESCs_Mouse0.96596259
86CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.95640398
87* CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.94753085
88MYC_18940864_ChIP-ChIP_HL60_Human0.94165342
89NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.93164077
90NANOG_21062744_ChIP-ChIP_HESCs_Human0.92173519
91CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.90809065
92* FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.90524292
93SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.89336459
94BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.89203323
95EWS_26573619_Chip-Seq_HEK293_Human0.87082794
96SOX2_18692474_ChIP-Seq_MEFs_Mouse0.86969103
97KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.86519818
98* NACC1_18358816_ChIP-ChIP_MESCs_Mouse0.86055066
99DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.86045589
100HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.85260531
101CHD1_26751641_Chip-Seq_LNCaP_Human0.84322609
102CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.84195904
103* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.80211519
104* OCT4_18692474_ChIP-Seq_MEFs_Mouse0.79985369
105* SOX17_20123909_ChIP-Seq_XEN_Mouse0.79512794
106ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.78985121
107PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.78708008
108CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.78071358
109TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.77709874
110GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.77393865
111CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.75965936
112NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.75629328
113HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.75315926

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0010094_abnormal_chromosome_stability4.78148902
2MP0003693_abnormal_embryo_hatching4.63282578
3MP0008057_abnormal_DNA_replication4.20694000
4MP0004957_abnormal_blastocyst_morpholog4.19794126
5MP0003111_abnormal_nucleus_morphology4.00724515
6MP0003077_abnormal_cell_cycle3.78085851
7MP0008058_abnormal_DNA_repair3.25429372
8MP0003806_abnormal_nucleotide_metabolis3.04479597
9MP0008007_abnormal_cellular_replicative2.73576230
10MP0003123_paternal_imprinting2.70360372
11MP0010352_gastrointestinal_tract_polyps2.52254016
12MP0008932_abnormal_embryonic_tissue2.49977735
13MP0002396_abnormal_hematopoietic_system2.38814799
14MP0001730_embryonic_growth_arrest2.35358575
15MP0000350_abnormal_cell_proliferation2.11177585
16MP0005380_embryogenesis_phenotype1.80529535
17MP0001672_abnormal_embryogenesis/_devel1.80529535
18MP0010307_abnormal_tumor_latency1.79977520
19MP0001697_abnormal_embryo_size1.73724681
20MP0010030_abnormal_orbit_morphology1.69867019
21MP0003984_embryonic_growth_retardation1.66380480
22MP0008877_abnormal_DNA_methylation1.63765072
23MP0003786_premature_aging1.63043848
24MP0002088_abnormal_embryonic_growth/wei1.62564364
25MP0001293_anophthalmia1.61480504
26MP0003567_abnormal_fetal_cardiomyocyte1.59591475
27MP0004197_abnormal_fetal_growth/weight/1.59234403
28MP0009053_abnormal_anal_canal1.58671430
29MP0002080_prenatal_lethality1.56472957
30MP0002085_abnormal_embryonic_tissue1.52161510
31MP0002084_abnormal_developmental_patter1.51427722
32MP0003186_abnormal_redox_activity1.44177067
33MP0002086_abnormal_extraembryonic_tissu1.43853025
34MP0003890_abnormal_embryonic-extraembry1.39259239
35MP0000537_abnormal_urethra_morphology1.39217424
36MP0003121_genomic_imprinting1.38544556
37MP0009697_abnormal_copulation1.33029506
38MP0003718_maternal_effect1.32169807
39MP0000490_abnormal_crypts_of1.29148435
40MP0004808_abnormal_hematopoietic_stem1.28930892
41MP0006054_spinal_hemorrhage1.28372485
42MP0000313_abnormal_cell_death1.27775679
43MP0002019_abnormal_tumor_incidence1.23616983
44MP0006035_abnormal_mitochondrial_morpho1.18416152
45MP0003136_yellow_coat_color1.17135356
46MP0004133_heterotaxia1.15585198
47MP0009672_abnormal_birth_weight1.14805356
48MP0003705_abnormal_hypodermis_morpholog1.11066296
49MP0001529_abnormal_vocalization1.02934236
50MP0005397_hematopoietic_system_phenotyp1.01253768
51MP0001545_abnormal_hematopoietic_system1.01253768
52MP0000579_abnormal_nail_morphology0.98605977
53MP0002233_abnormal_nose_morphology0.96129013
54MP0001346_abnormal_lacrimal_gland0.95505947
55MP0003937_abnormal_limbs/digits/tail_de0.93991211
56MP0003119_abnormal_digestive_system0.93873608
57MP0002111_abnormal_tail_morphology0.93101358
58MP0003861_abnormal_nervous_system0.92542058
59MP0002938_white_spotting0.92421645
60MP0003315_abnormal_perineum_morphology0.89071309
61MP0002210_abnormal_sex_determination0.88665977
62MP0003941_abnormal_skin_development0.88510390
63MP0002160_abnormal_reproductive_system0.87946759
64MP0003385_abnormal_body_wall0.87903363
65MP0003221_abnormal_cardiomyocyte_apopto0.87521532
66MP0005023_abnormal_wound_healing0.86768562
67MP0006072_abnormal_retinal_apoptosis0.85804816
68MP0001145_abnormal_male_reproductive0.85365633
69MP0001915_intracranial_hemorrhage0.84470305
70MP0001286_abnormal_eye_development0.83867601
71MP0002092_abnormal_eye_morphology0.83438722
72MP0009703_decreased_birth_body0.82115147
73MP0005266_abnormal_metabolism0.81394884
74MP0001188_hyperpigmentation0.81357361
75MP0004233_abnormal_muscle_weight0.80478430
76MP0005076_abnormal_cell_differentiation0.79238907
77MP0003755_abnormal_palate_morphology0.78293490
78MP0008789_abnormal_olfactory_epithelium0.77110572
79MP0002139_abnormal_hepatobiliary_system0.75074750
80MP0000358_abnormal_cell_content/0.74570654
81MP0000566_synostosis0.74333100
82MP0004185_abnormal_adipocyte_glucose0.73482522
83MP0001119_abnormal_female_reproductive0.72681340
84MP0006036_abnormal_mitochondrial_physio0.72465378
85MP0002697_abnormal_eye_size0.72274378
86MP0002009_preneoplasia0.71962709
87MP0000647_abnormal_sebaceous_gland0.71938944
88MP0000653_abnormal_sex_gland0.71531980
89MP0001661_extended_life_span0.70336329
90MP0003115_abnormal_respiratory_system0.70144365
91MP0003935_abnormal_craniofacial_develop0.69732515
92MP0002282_abnormal_trachea_morphology0.69363487
93MP0005394_taste/olfaction_phenotype0.68402684
94MP0005499_abnormal_olfactory_system0.68402684
95MP0002751_abnormal_autonomic_nervous0.68264706
96MP0004264_abnormal_extraembryonic_tissu0.68117313
97MP0005501_abnormal_skin_physiology0.67023983
98MP0005384_cellular_phenotype0.66498207
99MP0000598_abnormal_liver_morphology0.66381681
100MP0005389_reproductive_system_phenotype0.66100239
101MP0002877_abnormal_melanocyte_morpholog0.65889739
102MP0001299_abnormal_eye_distance/0.65116598
103MP0000762_abnormal_tongue_morphology0.65085193
104MP0003942_abnormal_urinary_system0.64896183
105MP0005085_abnormal_gallbladder_physiolo0.62168184
106MP0000703_abnormal_thymus_morphology0.62048784
107MP0003566_abnormal_cell_adhesion0.61431146
108MP0005391_vision/eye_phenotype0.61310816
109MP0000428_abnormal_craniofacial_morphol0.61241490
110MP0002081_perinatal_lethality0.60583989
111MP0001764_abnormal_homeostasis0.60350512
112MP0002234_abnormal_pharynx_morphology0.60107836
113MP0008995_early_reproductive_senescence0.58462808
114MP0001929_abnormal_gametogenesis0.58191405
115MP0002796_impaired_skin_barrier0.58120662
116MP0005621_abnormal_cell_physiology0.56126206
117MP0000432_abnormal_head_morphology0.55621222
118MP0003943_abnormal_hepatobiliary_system0.55233872
119MP0000477_abnormal_intestine_morphology0.54490199
120MP0002722_abnormal_immune_system0.54447506
121MP0005408_hypopigmentation0.54344294
122MP0000049_abnormal_middle_ear0.54137644
123MP0005360_urolithiasis0.53872593
124MP0001853_heart_inflammation0.53502396
125MP0006292_abnormal_olfactory_placode0.52569350
126MP0000689_abnormal_spleen_morphology0.52455935
127MP0002249_abnormal_larynx_morphology0.51486788
128MP0002075_abnormal_coat/hair_pigmentati0.51273477
129MP0004147_increased_porphyrin_level0.50647885
130MP0000516_abnormal_urinary_system0.50392260

Predicted human phenotypes

RankGene SetZ-score
1Birth length less than 3rd percentile (HP:0003561)5.14793092
2Colon cancer (HP:0003003)4.35683862
3Ependymoma (HP:0002888)3.62175938
4Medulloblastoma (HP:0002885)3.61847318
5Breast hypoplasia (HP:0003187)3.61688372
6Oral leukoplakia (HP:0002745)3.58447380
7Reticulocytopenia (HP:0001896)3.50200815
8Selective tooth agenesis (HP:0001592)3.33714983
9Chromsome breakage (HP:0040012)3.32602544
10Agnosia (HP:0010524)3.03100198
11Carpal bone hypoplasia (HP:0001498)2.97173783
12Patellar aplasia (HP:0006443)2.93015518
13Abnormality of cells of the erythroid lineage (HP:0012130)2.91810846
14Degeneration of anterior horn cells (HP:0002398)2.89661856
15Abnormality of the anterior horn cell (HP:0006802)2.89661856
16Cortical dysplasia (HP:0002539)2.87956138
17Chromosomal breakage induced by crosslinking agents (HP:0003221)2.87291086
18Rhabdomyosarcoma (HP:0002859)2.82065986
19Abnormality of chromosome stability (HP:0003220)2.81252837
20Abnormality of pyrimidine metabolism (HP:0004353)2.79769903
21Abnormal number of erythroid precursors (HP:0012131)2.78404887
22Impulsivity (HP:0100710)2.73457916
23Aplasia/Hypoplasia of the patella (HP:0006498)2.70375633
24Aplastic anemia (HP:0001915)2.69600940
25Abnormal number of incisors (HP:0011064)2.66830018
26Abnormal lung lobation (HP:0002101)2.54829160
27Meckel diverticulum (HP:0002245)2.54214412
2811 pairs of ribs (HP:0000878)2.51260609
29Abnormality of the carotid arteries (HP:0005344)2.47177275
30Rough bone trabeculation (HP:0100670)2.46434396
31Absent radius (HP:0003974)2.45615326
32Abnormality of the ileum (HP:0001549)2.44512644
33Proximal placement of thumb (HP:0009623)2.41593034
34Deviation of the thumb (HP:0009603)2.41152983
35Neoplasm of the pancreas (HP:0002894)2.40938747
36Atresia of the external auditory canal (HP:0000413)2.39723813
37Abnormality of the preputium (HP:0100587)2.37883547
38Abnormality of the labia minora (HP:0012880)2.35066392
39Microvesicular hepatic steatosis (HP:0001414)2.35021533
40Cerebral hypomyelination (HP:0006808)2.34877786
41Myelodysplasia (HP:0002863)2.32328845
42Small intestinal stenosis (HP:0012848)2.27935772
43Duodenal stenosis (HP:0100867)2.27935772
44Absent thumb (HP:0009777)2.26989537
45Absent forearm bone (HP:0003953)2.25854789
46Aplasia involving forearm bones (HP:0009822)2.25854789
47Increased nuchal translucency (HP:0010880)2.23234190
48Ectopic kidney (HP:0000086)2.22307855
49Astrocytoma (HP:0009592)2.21697365
50Abnormality of the astrocytes (HP:0100707)2.21697365
51Abnormality of methionine metabolism (HP:0010901)2.20958247
52Supernumerary spleens (HP:0009799)2.19721220
53Abnormality of glycolysis (HP:0004366)2.19108994
54Increased serum pyruvate (HP:0003542)2.19108994
55Neoplasm of the colon (HP:0100273)2.17396436
56Aplasia/Hypoplasia of the uvula (HP:0010293)2.17329426
57Macrocytic anemia (HP:0001972)2.17285714
58Aplasia/Hypoplasia of the sternum (HP:0006714)2.16517355
59Glioma (HP:0009733)2.15180078
60Microretrognathia (HP:0000308)2.13507291
61Sloping forehead (HP:0000340)2.12289207
62Abnormality of cochlea (HP:0000375)2.12044014
63Multiple enchondromatosis (HP:0005701)2.11611152
64Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.11085181
65Short 4th metacarpal (HP:0010044)2.11085181
66Missing ribs (HP:0000921)2.10853655
67Ovarian neoplasm (HP:0100615)2.09025649
68Aplasia/Hypoplasia of the sacrum (HP:0008517)2.08078486
69Glossoptosis (HP:0000162)2.06553657
70Premature graying of hair (HP:0002216)2.05496036
71Spastic diplegia (HP:0001264)2.05287737
72Diastasis recti (HP:0001540)2.05158624
73Cellular immunodeficiency (HP:0005374)2.03855024
74Basal cell carcinoma (HP:0002671)2.03316033
75Biliary tract neoplasm (HP:0100574)2.03098442
76Abnormality of the duodenum (HP:0002246)2.02137205
77Neoplasm of striated muscle (HP:0009728)2.02060257
78Irregular epiphyses (HP:0010582)2.01617835
79Volvulus (HP:0002580)2.01609732
80Bone marrow hypocellularity (HP:0005528)2.01274861
81Hypoplasia of the capital femoral epiphysis (HP:0003090)1.97801776
82Choanal atresia (HP:0000453)1.96835811
83Aplasia/Hypoplasia involving the carpal bones (HP:0006502)1.96725550
84Pancreatic islet-cell hyperplasia (HP:0004510)1.96721257
85Megaloblastic anemia (HP:0001889)1.96584644
86Cafe-au-lait spot (HP:0000957)1.95098881
87Nephroblastoma (Wilms tumor) (HP:0002667)1.94221512
88Neoplasm of the oral cavity (HP:0100649)1.93210094
89Stenosis of the external auditory canal (HP:0000402)1.91874866
90Embryonal neoplasm (HP:0002898)1.90679424
91Abnormality of serum amino acid levels (HP:0003112)1.89859914
92Amaurosis fugax (HP:0100576)1.89161660
93Homocystinuria (HP:0002156)1.89039273
94Abnormality of homocysteine metabolism (HP:0010919)1.89039273
95Hypoplasia of the pons (HP:0012110)1.88689430
96Facial cleft (HP:0002006)1.88133620
97Hypobetalipoproteinemia (HP:0003563)1.87896940
98Neoplasm of the rectum (HP:0100743)1.87780244
99High anterior hairline (HP:0009890)1.86092216
100Embryonal renal neoplasm (HP:0011794)1.85974271
101High pitched voice (HP:0001620)1.85409174
102Horseshoe kidney (HP:0000085)1.85283356
103Duplication of thumb phalanx (HP:0009942)1.84620368
104Postnatal microcephaly (HP:0005484)1.84368177
105Squamous cell carcinoma (HP:0002860)1.78587179
106Metaphyseal cupping (HP:0003021)1.77483750
107Abnormal trabecular bone morphology (HP:0100671)1.76928071
108Abnormality of the pons (HP:0007361)1.76410211
109Hyperglycinemia (HP:0002154)1.76307059
110Clubbing of toes (HP:0100760)1.75557962
111Pallor (HP:0000980)1.75518666
112Triphalangeal thumb (HP:0001199)1.74447297
113Trismus (HP:0000211)1.73876752
114Abnormality of the calcaneus (HP:0008364)1.73644647
115Esophageal atresia (HP:0002032)1.73640587
116Slender long bone (HP:0003100)1.72884462
117Progressive external ophthalmoplegia (HP:0000590)1.72762139
118Overlapping toe (HP:0001845)1.72340311
119Angiofibromas (HP:0010615)1.71692539
120Adenoma sebaceum (HP:0009720)1.71692539
121Intestinal polyposis (HP:0200008)1.71286623
122Pancytopenia (HP:0001876)1.71059424
123Intestinal polyp (HP:0005266)1.70592480
124Neoplasm of the adrenal gland (HP:0100631)1.70063739
125Cholecystitis (HP:0001082)1.69786007
126Abnormal gallbladder physiology (HP:0012438)1.69786007
127Increased hepatocellular lipid droplets (HP:0006565)1.67953407
128Hyperglycinuria (HP:0003108)1.67691328
129Bilateral microphthalmos (HP:0007633)1.65814188
130Abnormality of glycine metabolism (HP:0010895)1.65706806
131Abnormality of serine family amino acid metabolism (HP:0010894)1.65706806
132Septo-optic dysplasia (HP:0100842)1.63842968
133Morphological abnormality of the inner ear (HP:0011390)1.62911282
134Reduced antithrombin III activity (HP:0001976)1.62365204
135Hypoplastic pelvis (HP:0008839)1.61598657
136Abnormality of aspartate family amino acid metabolism (HP:0010899)1.59839442
137Short thumb (HP:0009778)1.59664918
138Type I transferrin isoform profile (HP:0003642)1.59381202
139Tracheoesophageal fistula (HP:0002575)1.59060157
140Arteriovenous malformation (HP:0100026)1.59009963
141Acute encephalopathy (HP:0006846)1.57564037
142Duplicated collecting system (HP:0000081)1.57478039
143Progressive muscle weakness (HP:0003323)1.57044881
144Microglossia (HP:0000171)1.56308045

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CDC74.71023799
2WEE14.41366844
3BUB14.13221905
4EIF2AK13.08952039
5NEK13.03432628
6VRK22.99287672
7TSSK62.76797927
8SRPK12.48557393
9NEK22.45657228
10TTK2.25733395
11PASK2.24729865
12MKNK12.24101802
13ACVR1B2.20498370
14BRSK22.16467064
15TAF12.13340526
16PLK41.95515204
17ATR1.88899334
18PLK11.87489440
19PLK31.85947513
20CDK71.77537634
21EIF2AK31.76594673
22RPS6KB21.72420389
23AURKB1.68724998
24VRK11.68646075
25STK161.68283905
26TGFBR11.67070666
27NME21.65061935
28SMG11.48527926
29RPS6KA41.47008420
30CCNB11.44218857
31BCKDK1.41651216
32CDK41.34485946
33TESK21.34093032
34TRIM281.34057834
35DYRK31.33222472
36FLT31.31556669
37SCYL21.30659145
38CHEK21.28585101
39EPHA21.28127521
40CDK121.25473268
41ZAK1.25242575
42NME11.23645658
43MAP3K81.23392983
44BRSK11.19983718
45CHEK11.19069893
46NUAK11.18617318
47MKNK21.16539690
48EEF2K1.16203024
49PAK41.12382508
50STK41.10766799
51AURKA1.08193265
52TNIK1.03338649
53PKN20.94622638
54ATM0.93638336
55CDK60.92554891
56STK100.89773222
57TLK10.85860363
58* CDK20.82355150
59BCR0.81724058
60PIM10.80302745
61WNK30.76342600
62CDK80.75364700
63BRD40.74996256
64ERBB40.74681732
65CSNK2A20.74066087
66LATS20.73212796
67NEK90.72319430
68MAP3K100.71266850
69CSNK2A10.70842020
70MELK0.70042829
71STK38L0.69844885
72LRRK20.69586952
73STK30.68642124
74* CDK10.63034120
75PDK30.58661542
76PDK40.58661542
77EIF2AK20.58617084
78PBK0.58530114
79FGFR10.57864008
80MAP2K30.57662817
81CSNK1G10.53150463
82BMPR1B0.51779883
83KDR0.51314033
84DYRK20.49902718
85ALK0.49814911
86PIM20.48520269
87TAOK20.48383062
88LATS10.47065115
89CDK180.41824108
90PAK10.41305443
91AKT20.40724744
92RPS6KA50.39911144
93CDK150.38288269
94CDK11A0.37288629
95PLK20.37143296
96PNCK0.37135416
97MTOR0.36476232
98CSNK1E0.36081617
99MAPKAPK50.35818465
100CSNK1A1L0.35413794
101TESK10.34700035
102CDK140.34625158
103PRKDC0.33891867
104ICK0.33784441
105CDK30.32411274
106MAP3K30.32296370
107ERBB30.31562804
108RPS6KB10.31235473
109MST40.31211581
110DAPK10.31192701
111BTK0.30791757
112CLK10.30614538
113PAK20.30332457
114CDK90.30235140
115PRKCI0.29559255
116MAPKAPK30.28980428
117BRAF0.28180555
118AKT30.28043514
119CAMK1G0.26876943
120CSNK1G30.26524058
121FGFR20.26483394
122MET0.26203258
123WNK40.26007993
124CSNK1D0.25407936
125MAPK110.24568472
126CAMK1D0.24070404
127PDK20.23562274
128CSNK1G20.23397374
129MAPK140.22578423
130STK240.21786742
131ILK0.21083737

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030305.25063773
2Mismatch repair_Homo sapiens_hsa034304.42453391
3Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.14620578
4One carbon pool by folate_Homo sapiens_hsa006703.05127279
5Base excision repair_Homo sapiens_hsa034103.00770547
6Spliceosome_Homo sapiens_hsa030402.87950772
7Homologous recombination_Homo sapiens_hsa034402.84060153
8RNA transport_Homo sapiens_hsa030132.81828575
9Nucleotide excision repair_Homo sapiens_hsa034202.78001547
10Proteasome_Homo sapiens_hsa030502.77158993
11Cell cycle_Homo sapiens_hsa041102.67868461
12Ribosome_Homo sapiens_hsa030102.61820135
13Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.54193439
14RNA polymerase_Homo sapiens_hsa030202.50720656
15Pyrimidine metabolism_Homo sapiens_hsa002402.27910940
16Non-homologous end-joining_Homo sapiens_hsa034502.19523581
17Fanconi anemia pathway_Homo sapiens_hsa034601.88059961
18RNA degradation_Homo sapiens_hsa030181.65486206
19Biosynthesis of amino acids_Homo sapiens_hsa012301.50217437
20Cysteine and methionine metabolism_Homo sapiens_hsa002701.47912168
212-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.42185389
22Selenocompound metabolism_Homo sapiens_hsa004501.41234150
23mRNA surveillance pathway_Homo sapiens_hsa030151.40427967
24Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.39590756
25Basal transcription factors_Homo sapiens_hsa030221.37001009
26Steroid biosynthesis_Homo sapiens_hsa001001.35089464
27p53 signaling pathway_Homo sapiens_hsa041151.33736184
28Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.27366177
29Drug metabolism - other enzymes_Homo sapiens_hsa009831.24054035
30Folate biosynthesis_Homo sapiens_hsa007901.19558185
31Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.18769773
32Carbon metabolism_Homo sapiens_hsa012001.15419259
33* Purine metabolism_Homo sapiens_hsa002301.12473467
34Cyanoamino acid metabolism_Homo sapiens_hsa004601.12031751
35Systemic lupus erythematosus_Homo sapiens_hsa053221.07475765
36Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.07405499
37Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.96893884
38Pentose phosphate pathway_Homo sapiens_hsa000300.92262699
39Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.92143699
40Parkinsons disease_Homo sapiens_hsa050120.91149823
41Glutathione metabolism_Homo sapiens_hsa004800.86242491
42Fatty acid elongation_Homo sapiens_hsa000620.83994474
43Epstein-Barr virus infection_Homo sapiens_hsa051690.83378227
44Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.81530844
45Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.74656316
46Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.73861684
47Viral carcinogenesis_Homo sapiens_hsa052030.73492862
48Oxidative phosphorylation_Homo sapiens_hsa001900.72784348
49Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.71286436
50Vitamin B6 metabolism_Homo sapiens_hsa007500.69719499
51Pyruvate metabolism_Homo sapiens_hsa006200.68317308
52Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.64586992
53Propanoate metabolism_Homo sapiens_hsa006400.62791550
54Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.62322694
55Oocyte meiosis_Homo sapiens_hsa041140.61958266
56Herpes simplex infection_Homo sapiens_hsa051680.59498773
57Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.56653431
58Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.56277311
59Thyroid cancer_Homo sapiens_hsa052160.55921586
60Primary bile acid biosynthesis_Homo sapiens_hsa001200.54487290
61Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.54250535
62Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.53482673
63Antigen processing and presentation_Homo sapiens_hsa046120.52518358
64HTLV-I infection_Homo sapiens_hsa051660.51586172
65Sulfur relay system_Homo sapiens_hsa041220.50870362
66Small cell lung cancer_Homo sapiens_hsa052220.50603799
67Basal cell carcinoma_Homo sapiens_hsa052170.46859708
68Arginine and proline metabolism_Homo sapiens_hsa003300.46826405
69Fatty acid degradation_Homo sapiens_hsa000710.45764849
70MicroRNAs in cancer_Homo sapiens_hsa052060.45426753
71Wnt signaling pathway_Homo sapiens_hsa043100.43468037
72Adherens junction_Homo sapiens_hsa045200.43044773
73Legionellosis_Homo sapiens_hsa051340.42124996
74TGF-beta signaling pathway_Homo sapiens_hsa043500.41798694
75Protein export_Homo sapiens_hsa030600.41344243
76Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.41034546
77Tyrosine metabolism_Homo sapiens_hsa003500.39684499
78Hippo signaling pathway_Homo sapiens_hsa043900.38576734
79* Metabolic pathways_Homo sapiens_hsa011000.37461843
80Peroxisome_Homo sapiens_hsa041460.37050426
81Lysine degradation_Homo sapiens_hsa003100.36735243
82Phenylalanine metabolism_Homo sapiens_hsa003600.36420076
83Vitamin digestion and absorption_Homo sapiens_hsa049770.36372749
84Pentose and glucuronate interconversions_Homo sapiens_hsa000400.36140842
85Alzheimers disease_Homo sapiens_hsa050100.35271116
86Tryptophan metabolism_Homo sapiens_hsa003800.34645910
87Nitrogen metabolism_Homo sapiens_hsa009100.32616752
88Colorectal cancer_Homo sapiens_hsa052100.32099636
89Galactose metabolism_Homo sapiens_hsa000520.31853909
90Fructose and mannose metabolism_Homo sapiens_hsa000510.31695275
91Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.31662302
92Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.31283110
93Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.31093568
94Arginine biosynthesis_Homo sapiens_hsa002200.29325145
95Butanoate metabolism_Homo sapiens_hsa006500.29203964
96Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.29176411
97beta-Alanine metabolism_Homo sapiens_hsa004100.29129511
98N-Glycan biosynthesis_Homo sapiens_hsa005100.27877218
99Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.27409480
100Chemical carcinogenesis_Homo sapiens_hsa052040.26615184
101Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.26084460
102Transcriptional misregulation in cancer_Homo sapiens_hsa052020.24397425
103Huntingtons disease_Homo sapiens_hsa050160.24259534
104Central carbon metabolism in cancer_Homo sapiens_hsa052300.23572889
105Prostate cancer_Homo sapiens_hsa052150.22509935
106Retinol metabolism_Homo sapiens_hsa008300.22134045
107Hedgehog signaling pathway_Homo sapiens_hsa043400.21602203
108Bladder cancer_Homo sapiens_hsa052190.19164042
109Tight junction_Homo sapiens_hsa045300.18915476
110Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.18754310
111Fatty acid metabolism_Homo sapiens_hsa012120.16299133
112Renin-angiotensin system_Homo sapiens_hsa046140.15437484
113Alcoholism_Homo sapiens_hsa050340.14990659
114Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.14677937
115Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.12661015
116Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.10262184
117Melanoma_Homo sapiens_hsa052180.06327660

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