ORC1

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: The origin recognition complex (ORC) is a highly conserved six subunits protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is the largest subunit of the ORC complex. While other ORC subunits are stable throughout the cell cycle, the levels of this protein vary during the cell cycle, which has been shown to be controlled by ubiquitin-mediated proteolysis after initiation of DNA replication. This protein is found to be selectively phosphorylated during mitosis. It is also reported to interact with MYST histone acetyltransferase 2 (MyST2/HBO1), a protein involved in control of transcription silencing. Alternatively spliced 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
1protein localization to kinetochore (GO:0034501)5.03232930
2mitotic metaphase plate congression (GO:0007080)4.94560990
3nuclear pore organization (GO:0006999)4.91681849
4nuclear pore complex assembly (GO:0051292)4.73985062
5* DNA replication initiation (GO:0006270)4.73657121
6DNA replication checkpoint (GO:0000076)4.70350238
7DNA strand elongation involved in DNA replication (GO:0006271)4.64052168
8DNA unwinding involved in DNA replication (GO:0006268)4.63063349
9DNA replication-dependent nucleosome organization (GO:0034723)4.52940696
10DNA replication-dependent nucleosome assembly (GO:0006335)4.52940696
11mitotic nuclear envelope disassembly (GO:0007077)4.47027087
12DNA strand elongation (GO:0022616)4.42625814
13protein localization to chromosome, centromeric region (GO:0071459)4.30015933
14metaphase plate congression (GO:0051310)4.27466392
15nucleobase biosynthetic process (GO:0046112)4.25186129
16telomere maintenance via semi-conservative replication (GO:0032201)4.19826173
17IMP biosynthetic process (GO:0006188)4.15308311
18membrane disassembly (GO:0030397)4.15146523
19nuclear envelope disassembly (GO:0051081)4.15146523
20folic acid-containing compound biosynthetic process (GO:0009396)4.11454409
21DNA topological change (GO:0006265)4.06518520
22ribosome assembly (GO:0042255)4.04149686
23chromatin remodeling at centromere (GO:0031055)3.99881110
24kinetochore organization (GO:0051383)3.98605759
25establishment of integrated proviral latency (GO:0075713)3.97516027
26mitotic sister chromatid segregation (GO:0000070)3.96605381
27purine nucleobase biosynthetic process (GO:0009113)3.96492425
28mitotic chromosome condensation (GO:0007076)3.93327491
29regulation of spindle organization (GO:0090224)3.91311203
30CENP-A containing nucleosome assembly (GO:0034080)3.90282535
31formation of translation preinitiation complex (GO:0001731)3.90157864
32telomere maintenance via recombination (GO:0000722)3.84653889
33positive regulation of chromosome segregation (GO:0051984)3.81352598
34protein K6-linked ubiquitination (GO:0085020)3.78505217
35attachment of spindle microtubules to kinetochore (GO:0008608)3.77166312
36establishment of chromosome localization (GO:0051303)3.76056419
37DNA ligation (GO:0006266)3.75487759
38maturation of SSU-rRNA (GO:0030490)3.75101231
39* regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)3.73939701
40non-recombinational repair (GO:0000726)3.73031506
41double-strand break repair via nonhomologous end joining (GO:0006303)3.73031506
42mitotic recombination (GO:0006312)3.72309184
43DNA replication-independent nucleosome organization (GO:0034724)3.71504565
44DNA replication-independent nucleosome assembly (GO:0006336)3.71504565
45somatic hypermutation of immunoglobulin genes (GO:0016446)3.70022281
46somatic diversification of immune receptors via somatic mutation (GO:0002566)3.70022281
47regulation of posttranscriptional gene silencing (GO:0060147)3.69361829
48regulation of gene silencing by miRNA (GO:0060964)3.69361829
49regulation of gene silencing by RNA (GO:0060966)3.69361829
50kinetochore assembly (GO:0051382)3.68396639
51ribosome biogenesis (GO:0042254)3.67906214
52IMP metabolic process (GO:0046040)3.65110700
53pore complex assembly (GO:0046931)3.64358221
54regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.58414198
55telomere maintenance via telomere lengthening (GO:0010833)3.58004294
56chromosome condensation (GO:0030261)3.57464150
57L-serine metabolic process (GO:0006563)3.56717729
58meiotic chromosome segregation (GO:0045132)3.56606366
59sister chromatid segregation (GO:0000819)3.55927782
60histone exchange (GO:0043486)3.50394264
61DNA duplex unwinding (GO:0032508)3.47277637
62DNA geometric change (GO:0032392)3.46648285
63regulation of translational fidelity (GO:0006450)3.46631297
64regulation of mitotic spindle organization (GO:0060236)3.43115778
65DNA synthesis involved in DNA repair (GO:0000731)3.40674107
66DNA conformation change (GO:0071103)3.39718681
67regulation of centrosome cycle (GO:0046605)3.39405602
68nucleotide-excision repair, DNA gap filling (GO:0006297)3.37850235
69regulation of helicase activity (GO:0051095)3.35012942
70protein localization to chromosome (GO:0034502)3.34012427
71regulation of histone H3-K9 methylation (GO:0051570)3.32512608
72regulation of chromosome segregation (GO:0051983)3.32451593
73telomere organization (GO:0032200)3.30594064
74ATP-dependent chromatin remodeling (GO:0043044)3.30482196
75replication fork processing (GO:0031297)3.28800084
76spindle checkpoint (GO:0031577)3.28573394
77chromatin assembly or disassembly (GO:0006333)3.26239579
78heterochromatin organization (GO:0070828)3.26155563
79negative regulation of chromosome segregation (GO:0051985)3.25155369
80ribonucleoprotein complex biogenesis (GO:0022613)3.21928261
81regulation of mitotic metaphase/anaphase transition (GO:0030071)3.21701609
82regulation of double-strand break repair via homologous recombination (GO:0010569)3.21445990
83positive regulation of mitotic metaphase/anaphase transition (GO:0045842)3.21244602
84positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)3.21244602
85positive regulation of mitotic sister chromatid separation (GO:1901970)3.21244602
86regulation of nuclear cell cycle DNA replication (GO:0033262)3.21136074
87negative regulation of histone methylation (GO:0031061)3.20402304
88regulation of metaphase/anaphase transition of cell cycle (GO:1902099)3.20024897
89DNA packaging (GO:0006323)3.18928921
90nuclear envelope organization (GO:0006998)3.17675995
91protein complex localization (GO:0031503)3.17280412
92mismatch repair (GO:0006298)3.16994588
93negative regulation of mitotic metaphase/anaphase transition (GO:0045841)3.16776788
94negative regulation of sister chromatid segregation (GO:0033046)3.16776788
95negative regulation of mitotic sister chromatid separation (GO:2000816)3.16776788
96negative regulation of mitotic sister chromatid segregation (GO:0033048)3.16776788
97negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)3.14751772
98maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)3.14042318
99regulation of sister chromatid cohesion (GO:0007063)3.12152234
100base-excision repair (GO:0006284)3.11698319
101spindle assembly checkpoint (GO:0071173)3.09974124
102mitotic spindle checkpoint (GO:0071174)3.09821297
103mitotic sister chromatid cohesion (GO:0007064)3.09791870
104chromosome segregation (GO:0007059)3.09103161
105regulation of centriole replication (GO:0046599)3.08041193
106negative regulation of DNA-dependent DNA replication (GO:2000104)3.06807072
107pre-miRNA processing (GO:0031054)3.06097728
108mitotic spindle assembly checkpoint (GO:0007094)3.05732899
109DNA strand renaturation (GO:0000733)3.04746506
110negative regulation of mRNA splicing, via spliceosome (GO:0048025)3.04039928
111regulation of telomere maintenance via telomerase (GO:0032210)3.03222556
112translesion synthesis (GO:0019985)3.03095282
113chromatin assembly (GO:0031497)3.02584204
114rRNA processing (GO:0006364)3.01870834
115spliceosomal snRNP assembly (GO:0000387)3.01788664
116regulation of sister chromatid segregation (GO:0033045)3.01630720
117regulation of mitotic sister chromatid separation (GO:0010965)3.01630720
118regulation of mitotic sister chromatid segregation (GO:0033047)3.01630720
119DNA double-strand break processing (GO:0000729)3.01338662
120* DNA replication (GO:0006260)3.01200335
121negative regulation of mRNA processing (GO:0050686)3.00319104
122ribosomal large subunit biogenesis (GO:0042273)2.99993600
123transcription-coupled nucleotide-excision repair (GO:0006283)2.97925226
124telomere maintenance (GO:0000723)2.96419712

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human9.86029230
2FOXM1_23109430_ChIP-Seq_U2OS_Human4.73603864
3MYC_18555785_ChIP-Seq_MESCs_Mouse4.17506549
4E2F4_17652178_ChIP-ChIP_JURKAT_Human4.04613481
5FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human3.35335190
6EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.13014563
7MYC_19079543_ChIP-ChIP_MESCs_Mouse3.12482708
8MYC_19030024_ChIP-ChIP_MESCs_Mouse2.81537155
9KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.65524058
10MYC_18358816_ChIP-ChIP_MESCs_Mouse2.60541986
11EST1_17652178_ChIP-ChIP_JURKAT_Human2.50912548
12NELFA_20434984_ChIP-Seq_ESCs_Mouse2.42005867
13AR_21909140_ChIP-Seq_LNCAP_Human2.37737611
14ETS1_20019798_ChIP-Seq_JURKAT_Human2.33929534
15KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.28646263
16MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.27044000
17CREB1_15753290_ChIP-ChIP_HEK293T_Human2.25915605
18JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.25715729
19CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.22705037
20E2F1_21310950_ChIP-Seq_MCF-7_Human2.18214198
21GABP_17652178_ChIP-ChIP_JURKAT_Human2.17456422
22NANOG_18555785_ChIP-Seq_MESCs_Mouse2.15680852
23MYBL2_22936984_ChIP-ChIP_MESCs_Mouse2.12599784
24XRN2_22483619_ChIP-Seq_HELA_Human2.11267060
25EGR1_19374776_ChIP-ChIP_THP-1_Human2.06155707
26HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.04682285
27E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.99146992
28MYCN_18555785_ChIP-Seq_MESCs_Mouse1.97804729
29SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.96595918
30POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.93867355
31POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.89770485
32E2F1_18555785_ChIP-Seq_MESCs_Mouse1.89523723
33VDR_23849224_ChIP-Seq_CD4+_Human1.87838606
34SALL1_21062744_ChIP-ChIP_HESCs_Human1.70427324
35FOXP3_21729870_ChIP-Seq_TREG_Human1.69271382
36DCP1A_22483619_ChIP-Seq_HELA_Human1.66777254
37MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.62627787
38TTF2_22483619_ChIP-Seq_HELA_Human1.61553680
39POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.60951418
40KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.60248248
41KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.60248248
42KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.60248248
43THAP11_20581084_ChIP-Seq_MESCs_Mouse1.59483921
44STAT3_1855785_ChIP-Seq_MESCs_Mouse1.59262382
45GABP_19822575_ChIP-Seq_HepG2_Human1.57608367
46YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.55146562
47PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.53901711
48NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.49526480
49SOX2_18555785_ChIP-Seq_MESCs_Mouse1.47495711
50NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.44104709
51MYC_22102868_ChIP-Seq_BL_Human1.41171358
52KDM5A_27292631_Chip-Seq_BREAST_Human1.40676061
53ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.40221537
54ZFX_18555785_ChIP-Seq_MESCs_Mouse1.40208805
55TCF3_18692474_ChIP-Seq_MEFs_Mouse1.39277074
56HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.37792715
57YY1_21170310_ChIP-Seq_MESCs_Mouse1.36060627
58CIITA_25753668_ChIP-Seq_RAJI_Human1.35072880
59ELK1_19687146_ChIP-ChIP_HELA_Human1.34668265
60NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.33969840
61TP63_19390658_ChIP-ChIP_HaCaT_Human1.29860784
62KLF4_18555785_ChIP-Seq_MESCs_Mouse1.29343003
63SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.25406186
64PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.22248198
65FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.21159238
66PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.20784217
67TCF3_18692474_ChIP-Seq_MESCs_Mouse1.20018158
68CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.17785946
69KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.14641144
70TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.14040756
71HOXB4_20404135_ChIP-ChIP_EML_Mouse1.13893398
72ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.12837187
73KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.11692310
74NANOG_21062744_ChIP-ChIP_HESCs_Human1.10117919
75TFEB_21752829_ChIP-Seq_HELA_Human1.09763356
76E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.09460239
77ELF1_17652178_ChIP-ChIP_JURKAT_Human1.09327896
78NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.08660855
79PADI4_21655091_ChIP-ChIP_MCF-7_Human1.07511367
80ESR1_15608294_ChIP-ChIP_MCF-7_Human1.06575091
81SOX2_16153702_ChIP-ChIP_HESCs_Human1.06219253
82DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.05725069
83RBPJ_22232070_ChIP-Seq_NCS_Mouse1.04636401
84NANOG_16153702_ChIP-ChIP_HESCs_Human1.02135424
85ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.01625029
86CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.01490370
87CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.01287236
88SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.99687046
89SRF_21415370_ChIP-Seq_HL-1_Mouse0.99311449
90SOX2_18358816_ChIP-ChIP_MESCs_Mouse0.98305192
91ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.97166317
92ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.96909564
93SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.95772478
94SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.95457862
95SOX2_18692474_ChIP-Seq_MEFs_Mouse0.94088800
96MYC_18940864_ChIP-ChIP_HL60_Human0.91578200
97SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.91400042
98CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.89999023
99CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.89217278
100SOX2_18692474_ChIP-Seq_MESCs_Mouse0.89023709
101OCT4_18692474_ChIP-Seq_MEFs_Mouse0.88063968
102NOTCH1_21737748_ChIP-Seq_TLL_Human0.87292452
103ERG_20887958_ChIP-Seq_HPC-7_Mouse0.85801028
104CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.84806138
105BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.84538683
106CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.84417890
107POU5F1_18692474_ChIP-Seq_MESCs_Mouse0.83663238
108SOX17_20123909_ChIP-Seq_XEN_Mouse0.82202956
109CHD1_26751641_Chip-Seq_LNCaP_Human0.80428734
110GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.76874462
111CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.76852568
112POU5F1_16153702_ChIP-ChIP_HESCs_Human0.72783747
113DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.71508074
114NCOR1_26117541_ChIP-Seq_K562_Human0.68925460

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching5.43866331
2MP0010094_abnormal_chromosome_stability5.06178382
3MP0003111_abnormal_nucleus_morphology4.83160262
4MP0004957_abnormal_blastocyst_morpholog4.56133757
5MP0008057_abnormal_DNA_replication4.56084846
6MP0003077_abnormal_cell_cycle4.18070976
7MP0008058_abnormal_DNA_repair3.41538364
8MP0008007_abnormal_cellular_replicative2.78093506
9MP0008932_abnormal_embryonic_tissue2.74638013
10MP0008877_abnormal_DNA_methylation2.72758713
11MP0001730_embryonic_growth_arrest2.64611698
12MP0003123_paternal_imprinting2.61317782
13MP0010352_gastrointestinal_tract_polyps2.60407776
14MP0000350_abnormal_cell_proliferation2.53647825
15MP0010307_abnormal_tumor_latency2.27478079
16MP0003786_premature_aging2.06341352
17MP0003718_maternal_effect2.04558133
18MP0001672_abnormal_embryogenesis/_devel2.04271853
19MP0005380_embryogenesis_phenotype2.04271853
20MP0009697_abnormal_copulation2.02394180
21MP0001697_abnormal_embryo_size1.94640777
22MP0002085_abnormal_embryonic_tissue1.81951002
23MP0002084_abnormal_developmental_patter1.78995976
24MP0003806_abnormal_nucleotide_metabolis1.77760692
25MP0003984_embryonic_growth_retardation1.77322286
26MP0002396_abnormal_hematopoietic_system1.76200059
27MP0002088_abnormal_embryonic_growth/wei1.73101052
28MP0008995_early_reproductive_senescence1.72194321
29MP0002080_prenatal_lethality1.70167628
30MP0002086_abnormal_extraembryonic_tissu1.67776518
31MP0003890_abnormal_embryonic-extraembry1.62070926
32MP0003121_genomic_imprinting1.60986781
33MP0004197_abnormal_fetal_growth/weight/1.59507926
34MP0002210_abnormal_sex_determination1.47993338
35MP0002653_abnormal_ependyma_morphology1.47858140
36MP0000313_abnormal_cell_death1.44045428
37MP0000490_abnormal_crypts_of1.42312373
38MP0005076_abnormal_cell_differentiation1.40762162
39MP0001293_anophthalmia1.38671569
40MP0002019_abnormal_tumor_incidence1.36480687
41MP0006035_abnormal_mitochondrial_morpho1.33092050
42MP0006292_abnormal_olfactory_placode1.31504768
43MP0002938_white_spotting1.29747875
44MP0010030_abnormal_orbit_morphology1.29580464
45MP0004147_increased_porphyrin_level1.29430590
46MP0003567_abnormal_fetal_cardiomyocyte1.29168623
47MP0004133_heterotaxia1.29109856
48MP0001145_abnormal_male_reproductive1.28601572
49MP0003119_abnormal_digestive_system1.24442900
50MP0001929_abnormal_gametogenesis1.23042328
51MP0000653_abnormal_sex_gland1.14603511
52MP0000566_synostosis1.08696764
53MP0004808_abnormal_hematopoietic_stem1.08293195
54MP0003941_abnormal_skin_development1.06661721
55MP0003315_abnormal_perineum_morphology1.03443884
56MP0001661_extended_life_span1.03407529
57MP0002160_abnormal_reproductive_system1.01881995
58MP0004264_abnormal_extraembryonic_tissu0.98729191
59MP0003937_abnormal_limbs/digits/tail_de0.96480888
60MP0003705_abnormal_hypodermis_morpholog0.95730635
61MP0001119_abnormal_female_reproductive0.94621317
62MP0001545_abnormal_hematopoietic_system0.92364083
63MP0005397_hematopoietic_system_phenotyp0.92364083
64MP0004233_abnormal_muscle_weight0.91480696
65MP0009053_abnormal_anal_canal0.91174740
66MP0002111_abnormal_tail_morphology0.89947840
67MP0009672_abnormal_birth_weight0.86996834
68MP0005384_cellular_phenotype0.86877289
69MP0001849_ear_inflammation0.86233891
70MP0003787_abnormal_imprinting0.85018539
71MP0005621_abnormal_cell_physiology0.83987997
72MP0009333_abnormal_splenocyte_physiolog0.83138061
73MP0005389_reproductive_system_phenotype0.82323454
74MP0001915_intracranial_hemorrhage0.82271966
75MP0002009_preneoplasia0.81935965
76MP0005023_abnormal_wound_healing0.81822365
77MP0000703_abnormal_thymus_morphology0.80921219
78MP0009703_decreased_birth_body0.80175184
79MP0004185_abnormal_adipocyte_glucose0.80009119
80MP0008789_abnormal_olfactory_epithelium0.79596478
81MP0000537_abnormal_urethra_morphology0.76911367
82MP0006036_abnormal_mitochondrial_physio0.75577373
83MP0000358_abnormal_cell_content/0.75455221
84MP0001286_abnormal_eye_development0.75355589
85MP0003221_abnormal_cardiomyocyte_apopto0.74445562
86MP0001346_abnormal_lacrimal_gland0.73160305
87MP0003566_abnormal_cell_adhesion0.70564548
88MP0003699_abnormal_female_reproductive0.70227009
89MP0000647_abnormal_sebaceous_gland0.69714318
90MP0005394_taste/olfaction_phenotype0.69406568
91MP0005499_abnormal_olfactory_system0.69406568
92MP0000678_abnormal_parathyroid_gland0.68878740
93MP0002233_abnormal_nose_morphology0.68518679
94MP0000432_abnormal_head_morphology0.67463830
95MP0003186_abnormal_redox_activity0.66668423
96MP0002092_abnormal_eye_morphology0.66570736
97MP0000579_abnormal_nail_morphology0.66466296
98MP0000428_abnormal_craniofacial_morphol0.66185733
99MP0005266_abnormal_metabolism0.65808248
100MP0002722_abnormal_immune_system0.65404813
101MP0003385_abnormal_body_wall0.64843382
102MP0000372_irregular_coat_pigmentation0.63883500
103MP0000858_altered_metastatic_potential0.63841540
104MP0005395_other_phenotype0.62977408
105MP0002398_abnormal_bone_marrow0.62770441
106MP0000049_abnormal_middle_ear0.62410397
107MP0002161_abnormal_fertility/fecundity0.62307146
108MP0003763_abnormal_thymus_physiology0.62029041
109MP0003936_abnormal_reproductive_system0.61859326
110MP0000689_abnormal_spleen_morphology0.61747177
111MP0003861_abnormal_nervous_system0.61709734
112MP0003698_abnormal_male_reproductive0.60870629
113MP0000516_abnormal_urinary_system0.60554639
114MP0005367_renal/urinary_system_phenotyp0.60554639
115MP0001529_abnormal_vocalization0.60258433
116MP0000477_abnormal_intestine_morphology0.57283353
117MP0005501_abnormal_skin_physiology0.56468163
118MP0003935_abnormal_craniofacial_develop0.54985349
119MP0008770_decreased_survivor_rate0.54893116
120MP0003136_yellow_coat_color0.54242192
121MP0002925_abnormal_cardiovascular_devel0.54090502
122MP0003755_abnormal_palate_morphology0.52863223
123MP0002075_abnormal_coat/hair_pigmentati0.52585152
124MP0009278_abnormal_bone_marrow0.52546115
125MP0003943_abnormal_hepatobiliary_system0.52077225
126MP0001919_abnormal_reproductive_system0.51822580
127MP0003448_altered_tumor_morphology0.51097821
128MP0002697_abnormal_eye_size0.51089622

Predicted human phenotypes

RankGene SetZ-score
1* Birth length less than 3rd percentile (HP:0003561)4.82772930
2Chromsome breakage (HP:0040012)4.69172069
3Chromosomal breakage induced by crosslinking agents (HP:0003221)4.58572771
4Ependymoma (HP:0002888)4.44509850
5Medulloblastoma (HP:0002885)3.98004922
6Selective tooth agenesis (HP:0001592)3.57358974
7Abnormality of chromosome stability (HP:0003220)3.56649081
8Colon cancer (HP:0003003)3.51716841
9Absent radius (HP:0003974)3.48753763
10Meckel diverticulum (HP:0002245)3.48137537
11Rhabdomyosarcoma (HP:0002859)3.44097852
12Supernumerary spleens (HP:0009799)3.40843565
13Carpal bone hypoplasia (HP:0001498)3.40613661
14* Breast hypoplasia (HP:0003187)3.39360431
15Agnosia (HP:0010524)3.39043926
16Abnormality of the ileum (HP:0001549)3.35398980
17* Patellar aplasia (HP:0006443)3.32841180
18Abnormality of the preputium (HP:0100587)3.30305342
19Absent forearm bone (HP:0003953)3.27536153
20Aplasia involving forearm bones (HP:0009822)3.27536153
21Aplasia/Hypoplasia of the uvula (HP:0010293)3.26722158
22Impulsivity (HP:0100710)3.25027990
23Reticulocytopenia (HP:0001896)3.13853603
24Absent thumb (HP:0009777)3.09070930
25* Aplasia/Hypoplasia of the patella (HP:0006498)3.06074141
26Astrocytoma (HP:0009592)3.01491961
27Abnormality of the astrocytes (HP:0100707)3.01491961
28Oral leukoplakia (HP:0002745)2.96492806
29Abnormality of the anterior horn cell (HP:0006802)2.93586245
30Degeneration of anterior horn cells (HP:0002398)2.93586245
31Neoplasm of the oral cavity (HP:0100649)2.90167735
32Ectopic kidney (HP:0000086)2.86218136
33Small intestinal stenosis (HP:0012848)2.85705925
34Duodenal stenosis (HP:0100867)2.85705925
35Myelodysplasia (HP:0002863)2.78276115
36Glioma (HP:0009733)2.67015918
37Cortical dysplasia (HP:0002539)2.65516393
38* Abnormality of the labia minora (HP:0012880)2.62801556
39Neoplasm of striated muscle (HP:0009728)2.62257960
40Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.59055084
41Abnormality of abdominal situs (HP:0011620)2.54229588
42Abdominal situs inversus (HP:0003363)2.54229588
43Rough bone trabeculation (HP:0100670)2.53510538
44Facial hemangioma (HP:0000329)2.52123678
45Cerebral hypomyelination (HP:0006808)2.50641472
46Basal cell carcinoma (HP:0002671)2.50434289
47Aplasia/Hypoplasia of the sacrum (HP:0008517)2.49611073
48Cholecystitis (HP:0001082)2.49325314
49Abnormal gallbladder physiology (HP:0012438)2.49325314
50Sloping forehead (HP:0000340)2.48920702
51Premature ovarian failure (HP:0008209)2.48709602
52Homocystinuria (HP:0002156)2.44912382
53Abnormality of homocysteine metabolism (HP:0010919)2.44912382
54Neoplasm of the pancreas (HP:0002894)2.43606454
55Bone marrow hypocellularity (HP:0005528)2.40594954
56Duplicated collecting system (HP:0000081)2.40188702
57Abnormality of the duodenum (HP:0002246)2.39459541
58Horseshoe kidney (HP:0000085)2.38641875
59Aplasia/hypoplasia of the humerus (HP:0006507)2.38469838
60Multiple enchondromatosis (HP:0005701)2.34023921
61Cafe-au-lait spot (HP:0000957)2.33920617
62Abnormal number of incisors (HP:0011064)2.33661575
63Abnormality of cells of the erythroid lineage (HP:0012130)2.32450420
64Proximal placement of thumb (HP:0009623)2.32150429
65Aplastic anemia (HP:0001915)2.32040341
66Abnormality of glycolysis (HP:0004366)2.32026574
67Tracheoesophageal fistula (HP:0002575)2.30400368
68Biliary tract neoplasm (HP:0100574)2.29197216
69Deviation of the thumb (HP:0009603)2.27825246
70Abnormality of reticulocytes (HP:0004312)2.26217292
71Rib fusion (HP:0000902)2.24505920
72Short thumb (HP:0009778)2.24014917
73Arteriovenous malformation (HP:0100026)2.23333291
74Abnormality of the carotid arteries (HP:0005344)2.22875220
75Premature graying of hair (HP:0002216)2.22178505
76Abnormal lung lobation (HP:0002101)2.21909150
77Amaurosis fugax (HP:0100576)2.20818911
78Triphalangeal thumb (HP:0001199)2.18689367
79Choanal atresia (HP:0000453)2.17512388
80Microvesicular hepatic steatosis (HP:0001414)2.14846796
81Duplication of thumb phalanx (HP:0009942)2.13680409
82Increased nuchal translucency (HP:0010880)2.10422075
83Prominent nose (HP:0000448)2.09665902
84Increased serum pyruvate (HP:0003542)2.09546677
85Squamous cell carcinoma (HP:0002860)2.08624907
86Pallor (HP:0000980)2.08434738
87Abnormal number of erythroid precursors (HP:0012131)2.07506012
88Nephroblastoma (Wilms tumor) (HP:0002667)2.07331853
89Short humerus (HP:0005792)2.06973222
90Acute lymphatic leukemia (HP:0006721)2.06057254
91* Atresia of the external auditory canal (HP:0000413)2.04734246
92Volvulus (HP:0002580)2.03375871
93Secondary amenorrhea (HP:0000869)2.01941726
94Clubbing of toes (HP:0100760)2.00998525
95Abnormality of the renal collecting system (HP:0004742)1.99749081
96Asplenia (HP:0001746)1.98478907
97Trismus (HP:0000211)1.97138443
98Hypoplasia of the capital femoral epiphysis (HP:0003090)1.96379098
99Cellular immunodeficiency (HP:0005374)1.95153083
100Embryonal neoplasm (HP:0002898)1.92833243
101Embryonal renal neoplasm (HP:0011794)1.92243553
102Missing ribs (HP:0000921)1.92118777
103Rectovaginal fistula (HP:0000143)1.90504541
104Rectal fistula (HP:0100590)1.90504541
105Neoplasm of the colon (HP:0100273)1.90499640
106Aplasia/Hypoplasia of the earlobes (HP:0009906)1.90342972
107High anterior hairline (HP:0009890)1.90251840
108Acute myeloid leukemia (HP:0004808)1.87887464
109High pitched voice (HP:0001620)1.85786859
110Microretrognathia (HP:0000308)1.84979046
111Macrocytic anemia (HP:0001972)1.84234233
112Pancytopenia (HP:0001876)1.84084437
113Aplasia/Hypoplasia of the spleen (HP:0010451)1.83572716
114Overlapping toe (HP:0001845)1.83234521
115Abnormality of DNA repair (HP:0003254)1.82762183
116Abnormality of pyrimidine metabolism (HP:0004353)1.82565245
117Stenosis of the external auditory canal (HP:0000402)1.82544365
118Cleft eyelid (HP:0000625)1.80530959
11911 pairs of ribs (HP:0000878)1.80293179
120Oligodactyly (HP:0012165)1.80288343
121Abnormal trabecular bone morphology (HP:0100671)1.80287169
122Progressive muscle weakness (HP:0003323)1.78873743
123Progressive external ophthalmoplegia (HP:0000590)1.70895466
124Abnormality of sulfur amino acid metabolism (HP:0004339)1.66659958
125Esophageal atresia (HP:0002032)1.66619481
126Microglossia (HP:0000171)1.66103632
127Pancreatic islet-cell hyperplasia (HP:0004510)1.64707667
128Abnormality of methionine metabolism (HP:0010901)1.63719513
129Abnormality of the pons (HP:0007361)1.62915633
130Hypoplasia of the pons (HP:0012110)1.62116357
131Ankyloglossia (HP:0010296)1.61924914
132Renal agenesis (HP:0000104)1.60452500
133Ureteral duplication (HP:0000073)1.59205343
134Hypoplastic pelvis (HP:0008839)1.57904447
135Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.56717178
136Abnormality of alanine metabolism (HP:0010916)1.56717178
137Hyperalaninemia (HP:0003348)1.56717178
138Spastic diplegia (HP:0001264)1.56566409
139Abnormality of serum amino acid levels (HP:0003112)1.56518745

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CDC74.80121904
2WEE14.56187063
3BUB14.09076679
4CDK123.16875286
5TTK3.02771898
6NEK22.98584939
7EIF2AK12.83083119
8SRPK12.53759024
9TSSK62.39002393
10NEK12.37711317
11PLK12.27977049
12PLK42.19755422
13EPHA22.19165675
14BRSK22.04261944
15CDK71.95420108
16RPS6KB21.86284340
17VRK21.85813675
18ACVR1B1.82331013
19ATR1.79654628
20CHEK21.79359132
21AURKB1.76893297
22PLK31.74548379
23NME21.72296664
24MKNK11.59087081
25CHEK11.52347913
26SMG11.52047497
27MAP3K81.51910341
28EIF2AK31.51141335
29PASK1.48907862
30CDK41.47059528
31STK101.46266723
32TESK21.45390544
33BRD41.44071663
34TLK11.43293329
35VRK11.42895199
36MKNK21.40756597
37NME11.37064526
38AURKA1.34119920
39DYRK31.33861223
40TAF11.32863517
41BRSK11.31738147
42STK41.29515189
43MST41.26811848
44EEF2K1.21786698
45CLK11.16819723
46PNCK1.16674418
47STK38L1.16355951
48LATS21.15981615
49ATM1.11910025
50ALK1.11765782
51RPS6KA41.10160865
52TRIM281.08292830
53STK161.08252174
54* CDK21.04898686
55MELK0.96607195
56SCYL20.95134941
57PAK40.93847181
58STK30.89975029
59LATS10.87526032
60ZAK0.85979446
61CDK60.83807469
62KSR20.80986198
63PIM10.80744210
64AKT30.80207674
65CDK10.79563361
66NUAK10.79102539
67BRAF0.75149377
68FLT30.73434792
69CDK80.71538232
70TGFBR10.71252889
71CSNK2A20.69397453
72PAK10.66827949
73KSR10.61075248
74PRKCI0.60926996
75MTOR0.60678742
76CSNK2A10.59390938
77PKN20.54460162
78BMX0.53900422
79MAPKAPK30.53413203
80CAMK1D0.53063347
81EIF2AK20.52593665
82CAMK1G0.52521617
83CSNK1E0.51428525
84MAP3K100.49752634
85TNIK0.48432932
86PBK0.48271944
87CSNK1D0.46922233
88PRKDC0.44529395
89RPS6KA50.41714149
90DYRK20.37998542
91CCNB10.37841862
92MAPK140.37457095
93AKT20.35513533
94PDK40.34028002
95PDK30.34028002
96BMPR1B0.32315104
97WNK30.32117648
98CDK90.31582340
99MAP3K60.30825635
100ICK0.30633259
101CDK30.28841509
102GSK3B0.28708560
103MAPK10.27009879
104AKT10.26756207
105FGFR10.26560370
106MAPKAPK50.26040162
107ERBB40.26005612
108TAOK20.25835675
109MOS0.25207110
110CDK11A0.24716761
111PDK20.24338617
112MAP2K30.24050864
113CDK180.23500962
114CDK150.22914662
115RAF10.21974636
116MET0.20856743
117DAPK10.19332460
118LRRK20.18660503
119MAP3K110.18192077
120RPS6KA10.17878395
121PAK20.16170761
122MAPK100.15571702
123MARK30.14022114
124RPS6KB10.13543752

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030305.04490892
2Mismatch repair_Homo sapiens_hsa034304.61483535
3Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030084.10472020
4RNA transport_Homo sapiens_hsa030133.43378015
5Spliceosome_Homo sapiens_hsa030403.23738154
6Homologous recombination_Homo sapiens_hsa034403.20764097
7RNA polymerase_Homo sapiens_hsa030203.12417506
8One carbon pool by folate_Homo sapiens_hsa006703.05296612
9* Cell cycle_Homo sapiens_hsa041103.04306636
10Nucleotide excision repair_Homo sapiens_hsa034203.02206384
11Base excision repair_Homo sapiens_hsa034102.99586858
12Fanconi anemia pathway_Homo sapiens_hsa034602.68196439
13Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.62477100
14Ribosome_Homo sapiens_hsa030102.45117037
15Proteasome_Homo sapiens_hsa030502.38004470
16Non-homologous end-joining_Homo sapiens_hsa034502.32235859
17Pyrimidine metabolism_Homo sapiens_hsa002402.27346156
18Basal transcription factors_Homo sapiens_hsa030222.24573239
19RNA degradation_Homo sapiens_hsa030182.08935604
20mRNA surveillance pathway_Homo sapiens_hsa030152.04951698
21p53 signaling pathway_Homo sapiens_hsa041151.76059635
22Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.55945173
23Protein export_Homo sapiens_hsa030601.43854211
24Pyruvate metabolism_Homo sapiens_hsa006201.30917995
25Systemic lupus erythematosus_Homo sapiens_hsa053221.25736342
26Oocyte meiosis_Homo sapiens_hsa041141.21308300
27Purine metabolism_Homo sapiens_hsa002301.21075911
28Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.19490249
29Epstein-Barr virus infection_Homo sapiens_hsa051691.15074619
30Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.11848075
31Steroid biosynthesis_Homo sapiens_hsa001001.06721977
32Vitamin B6 metabolism_Homo sapiens_hsa007501.05056139
33Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.03738379
34Viral carcinogenesis_Homo sapiens_hsa052031.03685801
35Biosynthesis of amino acids_Homo sapiens_hsa012301.01835253
36Cysteine and methionine metabolism_Homo sapiens_hsa002701.00743048
37Herpes simplex infection_Homo sapiens_hsa051680.90615537
38Cyanoamino acid metabolism_Homo sapiens_hsa004600.90177375
39Propanoate metabolism_Homo sapiens_hsa006400.87353547
40Selenocompound metabolism_Homo sapiens_hsa004500.86419812
41MicroRNAs in cancer_Homo sapiens_hsa052060.85121291
42Folate biosynthesis_Homo sapiens_hsa007900.76110128
43Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.74245821
44Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.74056344
45HTLV-I infection_Homo sapiens_hsa051660.71760750
46Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.70492700
47Antigen processing and presentation_Homo sapiens_hsa046120.69917913
48Thyroid cancer_Homo sapiens_hsa052160.65680339
49TGF-beta signaling pathway_Homo sapiens_hsa043500.65450422
50Pentose phosphate pathway_Homo sapiens_hsa000300.65285910
51Small cell lung cancer_Homo sapiens_hsa052220.64947034
52Hippo signaling pathway_Homo sapiens_hsa043900.61606764
53Parkinsons disease_Homo sapiens_hsa050120.60463935
54Drug metabolism - other enzymes_Homo sapiens_hsa009830.58563303
55Fatty acid elongation_Homo sapiens_hsa000620.57808967
56Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.52183543
57Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.51084082
58N-Glycan biosynthesis_Homo sapiens_hsa005100.50203456
59Basal cell carcinoma_Homo sapiens_hsa052170.50053700
60Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.47852623
61Transcriptional misregulation in cancer_Homo sapiens_hsa052020.47134585
62Arginine biosynthesis_Homo sapiens_hsa002200.43971705
63Notch signaling pathway_Homo sapiens_hsa043300.43753336
64Glutathione metabolism_Homo sapiens_hsa004800.43657489
65Oxidative phosphorylation_Homo sapiens_hsa001900.43551488
66Alcoholism_Homo sapiens_hsa050340.42727474
672-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.42219602
68Carbon metabolism_Homo sapiens_hsa012000.41769622
69Colorectal cancer_Homo sapiens_hsa052100.40787307
70Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.39551560
71Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.38590942
72Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.37764267
73Bladder cancer_Homo sapiens_hsa052190.36833651
74mTOR signaling pathway_Homo sapiens_hsa041500.36563275
75Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.36160218
76Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.35835204
77Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.34209378
78Hedgehog signaling pathway_Homo sapiens_hsa043400.34179125
79Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.34160589
80Fructose and mannose metabolism_Homo sapiens_hsa000510.33419126
81Adherens junction_Homo sapiens_hsa045200.33337899
82Lysine degradation_Homo sapiens_hsa003100.33024768
83Apoptosis_Homo sapiens_hsa042100.31735954
84Central carbon metabolism in cancer_Homo sapiens_hsa052300.30895738
85Fatty acid metabolism_Homo sapiens_hsa012120.29433897
86Pathways in cancer_Homo sapiens_hsa052000.28752821
87Legionellosis_Homo sapiens_hsa051340.28384211
88Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.27837250
89Hepatitis B_Homo sapiens_hsa051610.26748674
90HIF-1 signaling pathway_Homo sapiens_hsa040660.25786502
91Chronic myeloid leukemia_Homo sapiens_hsa052200.23001198
92Prostate cancer_Homo sapiens_hsa052150.22137737
93Tight junction_Homo sapiens_hsa045300.20357812
94Influenza A_Homo sapiens_hsa051640.17048804
95Sulfur relay system_Homo sapiens_hsa041220.17018132
96Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.16929050
97Melanoma_Homo sapiens_hsa052180.16599428
98Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.16493762
99Thyroid hormone signaling pathway_Homo sapiens_hsa049190.15801435
100Measles_Homo sapiens_hsa051620.15630068
101Wnt signaling pathway_Homo sapiens_hsa043100.14869569
102Arginine and proline metabolism_Homo sapiens_hsa003300.13888618
103Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.12904264
104Huntingtons disease_Homo sapiens_hsa050160.12463483
105FoxO signaling pathway_Homo sapiens_hsa040680.12380500
106NOD-like receptor signaling pathway_Homo sapiens_hsa046210.12311097
107Shigellosis_Homo sapiens_hsa051310.12252996
108NF-kappa B signaling pathway_Homo sapiens_hsa040640.11797749
109Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.11098184
110Alzheimers disease_Homo sapiens_hsa050100.10965231
111Vitamin digestion and absorption_Homo sapiens_hsa049770.10461070
112Non-small cell lung cancer_Homo sapiens_hsa052230.10370277
113Primary immunodeficiency_Homo sapiens_hsa053400.08763752
114Metabolic pathways_Homo sapiens_hsa011000.08711691
115Acute myeloid leukemia_Homo sapiens_hsa052210.08600984
116Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.08540531
117PI3K-Akt signaling pathway_Homo sapiens_hsa041510.07631762
118Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.07188863
119Galactose metabolism_Homo sapiens_hsa000520.06998753
120Pancreatic cancer_Homo sapiens_hsa052120.04275890

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