RRM1

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 the large and catalytic subunit of ribonucleotide reductase, an enzyme essential for the conversion of ribonucleotides into deoxyribonucleotides. A pool of available deoxyribonucleotides is important for DNA replication during S phase of the cell cycle as well as multiple DNA repair processes. 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)6.10949984
2DNA strand elongation involved in DNA replication (GO:0006271)5.67266899
3protein localization to kinetochore (GO:0034501)5.41624950
4DNA strand elongation (GO:0022616)5.39240569
5telomere maintenance via semi-conservative replication (GO:0032201)5.32832315
6DNA replication initiation (GO:0006270)5.30542720
7mitotic recombination (GO:0006312)4.93827243
8telomere maintenance via recombination (GO:0000722)4.89928150
9kinetochore organization (GO:0051383)4.86059429
10mitotic chromosome condensation (GO:0007076)4.83040260
11establishment of integrated proviral latency (GO:0075713)4.78216018
12protein localization to chromosome, centromeric region (GO:0071459)4.74470002
13regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450914.55651790
14CENP-A containing nucleosome assembly (GO:0034080)4.51929496
15DNA replication checkpoint (GO:0000076)4.51402648
16sister chromatid segregation (GO:0000819)4.50746197
17mitotic sister chromatid segregation (GO:0000070)4.48256004
18chromatin remodeling at centromere (GO:0031055)4.45398770
19nuclear pore organization (GO:0006999)4.38326290
20DNA replication-dependent nucleosome organization (GO:0034723)4.31083767
21DNA replication-dependent nucleosome assembly (GO:0006335)4.31083767
22nuclear pore complex assembly (GO:0051292)4.30340028
23attachment of spindle microtubules to kinetochore (GO:0008608)4.27172734
24nucleotide-excision repair, DNA gap filling (GO:0006297)4.25960076
25regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)4.21394139
26telomere maintenance via telomere lengthening (GO:0010833)4.20295362
27DNA replication-independent nucleosome assembly (GO:0006336)4.19052185
28DNA replication-independent nucleosome organization (GO:0034724)4.19052185
29mitotic metaphase plate congression (GO:0007080)4.14233437
30meiotic chromosome segregation (GO:0045132)4.10955727
31mitotic nuclear envelope disassembly (GO:0007077)4.09279115
32kinetochore assembly (GO:0051382)4.00218532
33mitotic sister chromatid cohesion (GO:0007064)3.99375613
34regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.91472365
35non-recombinational repair (GO:0000726)3.90992763
36double-strand break repair via nonhomologous end joining (GO:0006303)3.90992763
37DNA geometric change (GO:0032392)3.89200686
38DNA duplex unwinding (GO:0032508)3.89068676
39translesion synthesis (GO:0019985)3.86671080
40metaphase plate congression (GO:0051310)3.85295852
41nuclear envelope disassembly (GO:0051081)3.78702920
42membrane disassembly (GO:0030397)3.78702920
43regulation of spindle organization (GO:0090224)3.76437479
44histone exchange (GO:0043486)3.73533046
45establishment of chromosome localization (GO:0051303)3.68578359
46IMP biosynthetic process (GO:0006188)3.67964358
47DNA topological change (GO:0006265)3.65311069
48regulation of DNA endoreduplication (GO:0032875)3.59471189
49establishment of viral latency (GO:0019043)3.57338457
50positive regulation of chromosome segregation (GO:0051984)3.51858504
51chromatin assembly or disassembly (GO:0006333)3.50101589
52folic acid-containing compound biosynthetic process (GO:0009396)3.48141799
53DNA conformation change (GO:0071103)3.44982580
54mismatch repair (GO:0006298)3.44767464
55nucleobase biosynthetic process (GO:0046112)3.44684799
56chromosome condensation (GO:0030261)3.44426541
57telomere maintenance (GO:0000723)3.43878121
58chromosome segregation (GO:0007059)3.43360411
59telomere organization (GO:0032200)3.41988611
60ribosome assembly (GO:0042255)3.41539863
61spindle checkpoint (GO:0031577)3.41121891
62regulation of chromosome segregation (GO:0051983)3.40678611
63protein localization to chromosome (GO:0034502)3.40434751
64pore complex assembly (GO:0046931)3.39480667
65postreplication repair (GO:0006301)3.38222625
66regulation of centrosome cycle (GO:0046605)3.33122951
67microtubule depolymerization (GO:0007019)3.32864672
68regulation of mitotic metaphase/anaphase transition (GO:0030071)3.30456796
69spindle assembly checkpoint (GO:0071173)3.30331589
70negative regulation of chromosome segregation (GO:0051985)3.24977420
71ATP-dependent chromatin remodeling (GO:0043044)3.23941319
72anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.23699029
73DNA synthesis involved in DNA repair (GO:0000731)3.23032298
74negative regulation of mitotic sister chromatid segregation (GO:0033048)3.22959293
75negative regulation of mitotic metaphase/anaphase transition (GO:0045841)3.22959293
76negative regulation of sister chromatid segregation (GO:0033046)3.22959293
77negative regulation of mitotic sister chromatid separation (GO:2000816)3.22959293
78regulation of metaphase/anaphase transition of cell cycle (GO:1902099)3.21897913
79heterochromatin organization (GO:0070828)3.21324106
80positive regulation of mitotic metaphase/anaphase transition (GO:0045842)3.20173279
81positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)3.20173279
82positive regulation of mitotic sister chromatid separation (GO:1901970)3.20173279
83DNA ligation (GO:0006266)3.18285059
84IMP metabolic process (GO:0046040)3.17610354
85histone-serine phosphorylation (GO:0035404)3.17489675
86DNA packaging (GO:0006323)3.17456750
87regulation of double-strand break repair via homologous recombination (GO:0010569)3.16729729
88mitotic spindle assembly checkpoint (GO:0007094)3.15860549
89regulation of mitotic spindle organization (GO:0060236)3.15040670
90regulation of centriole replication (GO:0046599)3.14661503
91negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)3.12103606
92formation of translation preinitiation complex (GO:0001731)3.11836120
93negative regulation of mRNA splicing, via spliceosome (GO:0048025)3.11624546
94regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.10897116
95replication fork processing (GO:0031297)3.09327067
96mitotic spindle checkpoint (GO:0071174)3.08463848
97regulation of mitotic sister chromatid separation (GO:0010965)3.08360301
98regulation of mitotic sister chromatid segregation (GO:0033047)3.08360301
99regulation of sister chromatid segregation (GO:0033045)3.08360301
100regulation of sister chromatid cohesion (GO:0007063)3.08046900
101protein K6-linked ubiquitination (GO:0085020)3.07464941
102cell cycle G1/S phase transition (GO:0044843)3.05797907
103G1/S transition of mitotic cell cycle (GO:0000082)3.05797907
104purine nucleobase biosynthetic process (GO:0009113)3.05380938
105* mitotic cell cycle (GO:0000278)3.05134526
106negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.04880603
107proteasome assembly (GO:0043248)3.03855189
108regulation of histone H3-K9 methylation (GO:0051570)3.03809965
109base-excision repair (GO:0006284)3.00385868
110somatic diversification of immune receptors via somatic mutation (GO:0002566)2.99802301
111somatic hypermutation of immunoglobulin genes (GO:0016446)2.99802301
112dosage compensation (GO:0007549)2.98594110
113negative regulation of RNA splicing (GO:0033119)2.96531441
114nuclear envelope organization (GO:0006998)2.94618695

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXM1_23109430_ChIP-Seq_U2OS_Human6.12432044
2* E2F4_17652178_ChIP-ChIP_JURKAT_Human4.85974698
3FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human3.95408759
4MYC_18555785_ChIP-Seq_MESCs_Mouse3.63502483
5* EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.12858587
6AR_21909140_ChIP-Seq_LNCAP_Human2.73673977
7EGR1_19374776_ChIP-ChIP_THP-1_Human2.66976681
8KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.62624798
9* E2F1_21310950_ChIP-Seq_MCF-7_Human2.53922888
10* MYC_19079543_ChIP-ChIP_MESCs_Mouse2.47607668
11* MYC_19030024_ChIP-ChIP_MESCs_Mouse2.44256340
12MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.30314296
13* MYC_18358816_ChIP-ChIP_MESCs_Mouse2.26437177
14EST1_17652178_ChIP-ChIP_JURKAT_Human2.25117522
15NELFA_20434984_ChIP-Seq_ESCs_Mouse2.15791835
16* KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.15698210
17* MYBL2_22936984_ChIP-ChIP_MESCs_Mouse2.02594717
18* CREB1_15753290_ChIP-ChIP_HEK293T_Human2.01121068
19E2F7_22180533_ChIP-Seq_HELA_Human12.5528597
20XRN2_22483619_ChIP-Seq_HELA_Human1.97879024
21GABP_17652178_ChIP-ChIP_JURKAT_Human1.93470485
22* ETS1_20019798_ChIP-Seq_JURKAT_Human1.90628920
23HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.83711105
24VDR_23849224_ChIP-Seq_CD4+_Human1.82848537
25CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.81039647
26ELF1_17652178_ChIP-ChIP_JURKAT_Human1.80868846
27* JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.77996420
28MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.76254993
29* FOXP3_21729870_ChIP-Seq_TREG_Human1.73172811
30* MYCN_18555785_ChIP-Seq_MESCs_Mouse1.71029920
31E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.69829394
32MYC_22102868_ChIP-Seq_BL_Human1.64865007
33DCP1A_22483619_ChIP-Seq_HELA_Human1.64538754
34ELK1_19687146_ChIP-ChIP_HELA_Human1.63714841
35TP63_19390658_ChIP-ChIP_HaCaT_Human1.59784931
36SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.59207979
37* TTF2_22483619_ChIP-Seq_HELA_Human1.58818930
38SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.57047530
39PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.56934408
40* CIITA_25753668_ChIP-Seq_RAJI_Human1.54857645
41* E2F1_18555785_ChIP-Seq_MESCs_Mouse1.53670984
42* YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.50218833
43TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.42634644
44NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.42070645
45HOXB4_20404135_ChIP-ChIP_EML_Mouse1.41839849
46GABP_19822575_ChIP-Seq_HepG2_Human1.40488659
47HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.40279434
48ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.38211669
49FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.38149612
50FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.37528878
51POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.34262327
52ZFX_18555785_ChIP-Seq_MESCs_Mouse1.33558397
53THAP11_20581084_ChIP-Seq_MESCs_Mouse1.32548994
54KDM5A_27292631_Chip-Seq_BREAST_Human1.27999027
55* NANOG_18555785_ChIP-Seq_MESCs_Mouse1.27095446
56* E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.25519398
57PADI4_21655091_ChIP-ChIP_MCF-7_Human1.21890552
58HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.21208993
59PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.20269695
60RBPJ_22232070_ChIP-Seq_NCS_Mouse1.20146764
61SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.19708259
62CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.19617968
63* ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.16030601
64* ERG_20887958_ChIP-Seq_HPC-7_Mouse1.14928842
65SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.13183758
66CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.11243531
67VDR_21846776_ChIP-Seq_THP-1_Human1.11069872
68TFEB_21752829_ChIP-Seq_HELA_Human1.05583639
69SOX2_18555785_ChIP-Seq_MESCs_Mouse1.05445580
70SALL1_21062744_ChIP-ChIP_HESCs_Human1.05244784
71* SOX17_20123909_ChIP-Seq_XEN_Mouse1.04395581
72MYC_18940864_ChIP-ChIP_HL60_Human0.95538328
73KLF4_18555785_ChIP-Seq_MESCs_Mouse0.95518464
74CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.94791281
75* FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.92928083
76SOX2_16153702_ChIP-ChIP_HESCs_Human0.92034917
77POU5F1_18358816_ChIP-ChIP_MESCs_Mouse0.91530299
78* GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.90836418
79* YY1_21170310_ChIP-Seq_MESCs_Mouse0.90609350
80DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.90242094
81* KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.90228667
82SPI1_23547873_ChIP-Seq_NB4_Human0.88989625
83* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.88340665
84SMAD1_18555785_ChIP-Seq_MESCs_Mouse0.88112663
85POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.87707809
86ESR1_15608294_ChIP-ChIP_MCF-7_Human0.87670795
87EWS_26573619_Chip-Seq_HEK293_Human0.87018539
88SRF_21415370_ChIP-Seq_HL-1_Mouse0.85344363
89NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.84663134
90HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.83354093
91CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.81285086
92* CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.81178625
93SMAD4_19686287_ChIP-ChIP_HaCaT_Human0.78571045
94TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.78040266
95POU5F1_16153702_ChIP-ChIP_HESCs_Human0.77042134
96STAT3_1855785_ChIP-Seq_MESCs_Mouse0.76818067
97CHD1_26751641_Chip-Seq_LNCaP_Human0.76367588
98BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.75203342
99FUS_26573619_Chip-Seq_HEK293_Human0.75076893
100NOTCH1_21737748_ChIP-Seq_TLL_Human0.74352733
101PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.74292256
102ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.73801491
103* CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.73458775
104* MYB_26560356_Chip-Seq_TH2_Human0.72132904
105NANOG_21062744_ChIP-ChIP_HESCs_Human0.71068880
106HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.70261640
107MYB_26560356_Chip-Seq_TH1_Human0.70189345
108IRF8_22096565_ChIP-ChIP_GC-B_Mouse0.69715532
109SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.68986312
110DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.68800399
111HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.68514879
112CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.68357964
113MECOM_23826213_ChIP-Seq_KASUMI_Mouse0.68190022
114NANOG_16153702_ChIP-ChIP_HESCs_Human0.65810469
115MYB_21317192_ChIP-Seq_ERMYB_Mouse0.65351209
116IRF1_19129219_ChIP-ChIP_H3396_Human0.62291854

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0010094_abnormal_chromosome_stability5.08145875
2MP0003693_abnormal_embryo_hatching4.71843940
3MP0003111_abnormal_nucleus_morphology4.56258362
4MP0008057_abnormal_DNA_replication4.07417179
5MP0003077_abnormal_cell_cycle3.88157816
6MP0004957_abnormal_blastocyst_morpholog3.68858222
7MP0008058_abnormal_DNA_repair3.20541066
8MP0008007_abnormal_cellular_replicative2.75500107
9MP0002396_abnormal_hematopoietic_system2.73805854
10MP0008932_abnormal_embryonic_tissue2.51188481
11MP0010307_abnormal_tumor_latency2.33251921
12MP0010352_gastrointestinal_tract_polyps2.33016400
13MP0009697_abnormal_copulation2.32605687
14MP0000350_abnormal_cell_proliferation2.14345386
15MP0003123_paternal_imprinting2.07954326
16MP0008877_abnormal_DNA_methylation2.00960427
17MP0001730_embryonic_growth_arrest2.00817834
18MP0004808_abnormal_hematopoietic_stem1.95878563
19MP0000490_abnormal_crypts_of1.88095542
20MP0003786_premature_aging1.70870025
21MP0003121_genomic_imprinting1.64274309
22MP0001672_abnormal_embryogenesis/_devel1.59602717
23MP0005380_embryogenesis_phenotype1.59602717
24MP0005076_abnormal_cell_differentiation1.58782008
25MP0003941_abnormal_skin_development1.57850503
26MP0006054_spinal_hemorrhage1.56852627
27MP0001697_abnormal_embryo_size1.53442484
28MP0006292_abnormal_olfactory_placode1.48048897
29MP0004197_abnormal_fetal_growth/weight/1.45458448
30MP0003984_embryonic_growth_retardation1.44024748
31MP0002080_prenatal_lethality1.41226550
32MP0002088_abnormal_embryonic_growth/wei1.40862882
33MP0002085_abnormal_embryonic_tissue1.38712666
34MP0002019_abnormal_tumor_incidence1.38261984
35MP0002877_abnormal_melanocyte_morpholog1.37311869
36MP0010030_abnormal_orbit_morphology1.36925708
37MP0000313_abnormal_cell_death1.35178446
38MP0000703_abnormal_thymus_morphology1.30381956
39MP0002086_abnormal_extraembryonic_tissu1.28867450
40MP0002084_abnormal_developmental_patter1.24751922
41MP0003567_abnormal_fetal_cardiomyocyte1.23004020
42MP0005397_hematopoietic_system_phenotyp1.21388468
43MP0001545_abnormal_hematopoietic_system1.21388468
44MP0009278_abnormal_bone_marrow1.20735445
45MP0001346_abnormal_lacrimal_gland1.19908834
46MP0003806_abnormal_nucleotide_metabolis1.18345976
47MP0002398_abnormal_bone_marrow1.17162444
48MP0006035_abnormal_mitochondrial_morpho1.15182803
49MP0002009_preneoplasia1.13916499
50MP0003763_abnormal_thymus_physiology1.12243215
51MP0009333_abnormal_splenocyte_physiolog1.10679831
52MP0003315_abnormal_perineum_morphology1.10410647
53MP0002722_abnormal_immune_system1.06072399
54MP0002210_abnormal_sex_determination1.05658975
55MP0000358_abnormal_cell_content/1.04797741
56MP0001529_abnormal_vocalization1.02914067
57MP0001293_anophthalmia1.02790818
58MP0000566_synostosis0.98889186
59MP0010234_abnormal_vibrissa_follicle0.98497668
60MP0000689_abnormal_spleen_morphology0.97806776
61MP0002234_abnormal_pharynx_morphology0.97637447
62MP0003705_abnormal_hypodermis_morpholog0.96515588
63MP0002233_abnormal_nose_morphology0.96362380
64MP0000372_irregular_coat_pigmentation0.95016273
65MP0000537_abnormal_urethra_morphology0.94020616
66MP0003890_abnormal_embryonic-extraembry0.91389444
67MP0003937_abnormal_limbs/digits/tail_de0.90837735
68MP0006072_abnormal_retinal_apoptosis0.89309224
69MP0003136_yellow_coat_color0.89117097
70MP0001145_abnormal_male_reproductive0.88801431
71MP0005171_absent_coat_pigmentation0.88499241
72MP0003755_abnormal_palate_morphology0.87826324
73MP0009053_abnormal_anal_canal0.87745732
74MP0000647_abnormal_sebaceous_gland0.87704140
75MP0003950_abnormal_plasma_membrane0.86288397
76MP0002095_abnormal_skin_pigmentation0.85447630
77MP0002429_abnormal_blood_cell0.85215742
78MP0000858_altered_metastatic_potential0.84654230
79MP0008789_abnormal_olfactory_epithelium0.83985848
80MP0004233_abnormal_muscle_weight0.83555102
81MP0002111_abnormal_tail_morphology0.81625287
82MP0000579_abnormal_nail_morphology0.81150325
83MP0003385_abnormal_body_wall0.79661856
84MP0000569_abnormal_digit_pigmentation0.79487025
85MP0003861_abnormal_nervous_system0.79404149
86MP0004147_increased_porphyrin_level0.79240788
87MP0005023_abnormal_wound_healing0.78638135
88MP0009703_decreased_birth_body0.78447595
89MP0003566_abnormal_cell_adhesion0.78353508
90MP0003221_abnormal_cardiomyocyte_apopto0.77923721
91MP0005501_abnormal_skin_physiology0.77673283
92MP0002938_white_spotting0.77671393
93MP0001929_abnormal_gametogenesis0.77625010
94MP0001915_intracranial_hemorrhage0.76830977
95MP0002092_abnormal_eye_morphology0.75396239
96MP0000383_abnormal_hair_follicle0.74966238
97MP0000428_abnormal_craniofacial_morphol0.74822693
98MP0000733_abnormal_muscle_development0.73854847
99MP0005623_abnormal_meninges_morphology0.72717256
100MP0000653_abnormal_sex_gland0.72706365
101MP0001119_abnormal_female_reproductive0.72634578
102MP0000716_abnormal_immune_system0.72569691
103MP0005621_abnormal_cell_physiology0.71961250
104MP0005384_cellular_phenotype0.71660070
105MP0009672_abnormal_birth_weight0.71638038
106MP0001661_extended_life_span0.71205490
107MP0002102_abnormal_ear_morphology0.68582941
108MP0005174_abnormal_tail_pigmentation0.68442225
109MP0002163_abnormal_gland_morphology0.67796750
110MP0002160_abnormal_reproductive_system0.67277436
111MP0003186_abnormal_redox_activity0.66934933
112MP0003787_abnormal_imprinting0.66257502
113MP0006036_abnormal_mitochondrial_physio0.66132021
114MP0003119_abnormal_digestive_system0.65719320
115MP0001299_abnormal_eye_distance/0.65683222
116MP0005391_vision/eye_phenotype0.65601657
117MP0000432_abnormal_head_morphology0.65426997
118MP0002075_abnormal_coat/hair_pigmentati0.64928615
119MP0000465_gastrointestinal_hemorrhage0.63266590
120MP0005389_reproductive_system_phenotype0.63229571
121MP0001800_abnormal_humoral_immune0.63047993
122MP0003718_maternal_effect0.62376673
123MP0000015_abnormal_ear_pigmentation0.61394059
124MP0003935_abnormal_craniofacial_develop0.61266437
125MP0002697_abnormal_eye_size0.60820546
126MP0002177_abnormal_outer_ear0.60678380
127MP0000477_abnormal_intestine_morphology0.60490317
128MP0003115_abnormal_respiratory_system0.60331689
129MP0005187_abnormal_penis_morphology0.60163067
130MP0003448_altered_tumor_morphology0.58480842
131MP0002452_abnormal_antigen_presenting0.58168722
132MP0002006_tumorigenesis0.58154533
133MP0002420_abnormal_adaptive_immunity0.57911392
134MP0001286_abnormal_eye_development0.57306514
135MP0001819_abnormal_immune_cell0.56526151
136MP0003943_abnormal_hepatobiliary_system0.56016397
137MP0002166_altered_tumor_susceptibility0.56014697
138MP0002132_abnormal_respiratory_system0.55805512

Predicted human phenotypes

RankGene SetZ-score
1Chromsome breakage (HP:0040012)5.25690962
2Chromosomal breakage induced by crosslinking agents (HP:0003221)5.18852548
3Birth length less than 3rd percentile (HP:0003561)4.13044917
4Abnormality of chromosome stability (HP:0003220)3.90271994
5Reticulocytopenia (HP:0001896)3.65907701
6Meckel diverticulum (HP:0002245)3.54248975
7Abnormality of the preputium (HP:0100587)3.41374474
8Aplasia/Hypoplasia of the uvula (HP:0010293)3.40275512
9Abnormality of the ileum (HP:0001549)3.37355879
10Ectopic kidney (HP:0000086)3.08892313
11Selective tooth agenesis (HP:0001592)3.08513189
12Small intestinal stenosis (HP:0012848)3.05928804
13Duodenal stenosis (HP:0100867)3.05928804
14Volvulus (HP:0002580)3.00963052
15Increased nuchal translucency (HP:0010880)3.00581635
16Patellar aplasia (HP:0006443)2.92636790
17Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.89841016
18Short 4th metacarpal (HP:0010044)2.89841016
19Myelodysplasia (HP:0002863)2.85747448
20Colon cancer (HP:0003003)2.84823522
21Duplicated collecting system (HP:0000081)2.84452372
22Medulloblastoma (HP:0002885)2.83496239
23Cortical dysplasia (HP:0002539)2.79284760
24Abnormality of glycolysis (HP:0004366)2.78743312
25Aplasia/Hypoplasia of the patella (HP:0006498)2.72332357
26Abnormality of the renal collecting system (HP:0004742)2.71190196
27Abnormality of the carotid arteries (HP:0005344)2.68294735
28Breast hypoplasia (HP:0003187)2.63987991
29Increased serum pyruvate (HP:0003542)2.63276732
30Aplasia/Hypoplasia of the sacrum (HP:0008517)2.58953099
31Microvesicular hepatic steatosis (HP:0001414)2.57673814
32Impulsivity (HP:0100710)2.53747355
33Absent thumb (HP:0009777)2.51556382
34Bone marrow hypocellularity (HP:0005528)2.48539893
35Nephroblastoma (Wilms tumor) (HP:0002667)2.48478982
36Proximal placement of thumb (HP:0009623)2.46666811
37Abnormality of the duodenum (HP:0002246)2.45373610
38Ependymoma (HP:0002888)2.44847457
39Abnormal lung lobation (HP:0002101)2.43289643
40Deviation of the thumb (HP:0009603)2.42973481
41Sloping forehead (HP:0000340)2.41370851
42Agnosia (HP:0010524)2.39958446
43Absent radius (HP:0003974)2.36577605
44Abnormal number of incisors (HP:0011064)2.36139634
4511 pairs of ribs (HP:0000878)2.35303337
46Embryonal renal neoplasm (HP:0011794)2.34743437
47Oral leukoplakia (HP:0002745)2.34522017
48Abnormality of DNA repair (HP:0003254)2.33743183
49High pitched voice (HP:0001620)2.32601844
50Neoplasm of the pancreas (HP:0002894)2.29090611
51Clubbing of toes (HP:0100760)2.28000288
52Degeneration of anterior horn cells (HP:0002398)2.27137010
53Abnormality of the anterior horn cell (HP:0006802)2.27137010
54Absent forearm bone (HP:0003953)2.20078142
55Aplasia involving forearm bones (HP:0009822)2.20078142
56Short thumb (HP:0009778)2.17174866
57Abnormality of cells of the erythroid lineage (HP:0012130)2.17015444
58Abnormal number of erythroid precursors (HP:0012131)2.16680177
59Premature graying of hair (HP:0002216)2.15899178
60Rhabdomyosarcoma (HP:0002859)2.15343031
61Cafe-au-lait spot (HP:0000957)2.13867786
62Tracheoesophageal fistula (HP:0002575)2.13473560
63Atresia of the external auditory canal (HP:0000413)2.12476698
64Hypoplasia of the capital femoral epiphysis (HP:0003090)2.07453691
65Multiple enchondromatosis (HP:0005701)2.06487215
66Duplication of thumb phalanx (HP:0009942)2.05647195
67Triphalangeal thumb (HP:0001199)2.02694352
68Squamous cell carcinoma (HP:0002860)2.00740963
69Prominent nose (HP:0000448)1.98745070
70Basal cell carcinoma (HP:0002671)1.97377223
71Abnormality of the calcaneus (HP:0008364)1.96742263
72High anterior hairline (HP:0009890)1.95883007
73Slender long bone (HP:0003100)1.95576717
74Abnormality of the labia minora (HP:0012880)1.93694692
75Pallor (HP:0000980)1.92064090
76Aplastic anemia (HP:0001915)1.89148639
77Abnormality of the 4th metacarpal (HP:0010012)1.87780918
78Deep philtrum (HP:0002002)1.86595322
79Lymphoma (HP:0002665)1.86510659
80Renal duplication (HP:0000075)1.85054597
81Microglossia (HP:0000171)1.84264602
82Rough bone trabeculation (HP:0100670)1.82950572
83Horseshoe kidney (HP:0000085)1.82911416
84Embryonal neoplasm (HP:0002898)1.82615411
85Overlapping toe (HP:0001845)1.80610520
86Abnormality of cochlea (HP:0000375)1.79857728
87Mesomelia (HP:0003027)1.79723923
88Arteriovenous malformation (HP:0100026)1.79214240
89Hypoplastic pelvis (HP:0008839)1.78745237
90Short middle phalanx of the 5th finger (HP:0004220)1.77998820
91Long eyelashes (HP:0000527)1.76332076
92Pancytopenia (HP:0001876)1.76043698
93Facial cleft (HP:0002006)1.75689913
94Aplasia/Hypoplasia of the sternum (HP:0006714)1.73553598
95Macrocytic anemia (HP:0001972)1.72247323
96Thrombocytosis (HP:0001894)1.72140565
97Postnatal microcephaly (HP:0005484)1.71812807
98IgM deficiency (HP:0002850)1.71759318
99Facial hemangioma (HP:0000329)1.71092210
100Abnormality of chromosome segregation (HP:0002916)1.70391320
101Glioma (HP:0009733)1.70368831
102Microtia (HP:0008551)1.69045914
103Abnormality of reticulocytes (HP:0004312)1.68786130
104Abnormality of the astrocytes (HP:0100707)1.68564042
105Astrocytoma (HP:0009592)1.68564042
106Increased hepatocellular lipid droplets (HP:0006565)1.68452797
107Abnormality of methionine metabolism (HP:0010901)1.68306306
108Neoplasm of the colon (HP:0100273)1.67664390
109Amaurosis fugax (HP:0100576)1.67201986
110Carpal bone hypoplasia (HP:0001498)1.66369520
111Abnormality of the heme biosynthetic pathway (HP:0010472)1.65819079
112Abnormality of the fingertips (HP:0001211)1.65073393
113Esophageal atresia (HP:0002032)1.64150174
114Cellular immunodeficiency (HP:0005374)1.63559485
115Increased density of long bones (HP:0006392)1.62980396
116Missing ribs (HP:0000921)1.60305604
117Poikiloderma (HP:0001029)1.59914726
118Choanal atresia (HP:0000453)1.59347108
119Broad palm (HP:0001169)1.59315704
120Biliary tract neoplasm (HP:0100574)1.59109041
121Acute necrotizing encephalopathy (HP:0006965)1.58041086
122Acute encephalopathy (HP:0006846)1.57773130
123Abnormality of the umbilical cord (HP:0010881)1.55201471
124Megaloblastic anemia (HP:0001889)1.54627051
125Abnormality of the pons (HP:0007361)1.54184286
126Absent epiphyses (HP:0010577)1.53528994
127Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)1.53528994
128Secondary amenorrhea (HP:0000869)1.53435031
129Irregular epiphyses (HP:0010582)1.52162993
130Cerebral edema (HP:0002181)1.51899884
131Abnormal mitochondria in muscle tissue (HP:0008316)1.51114500
132Progressive external ophthalmoplegia (HP:0000590)1.50105616
133Abnormality of the fetal cardiovascular system (HP:0010948)1.48586661
134Single umbilical artery (HP:0001195)1.48586661

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CDC75.40944485
2WEE13.94154813
3BUB13.81958721
4NEK23.30662465
5EIF2AK12.65751992
6VRK22.60405223
7BRSK22.52804683
8TTK2.51199227
9SRPK12.40825906
10PLK12.04701399
11ATR2.03983784
12NEK12.00801843
13PASK1.98866908
14AURKB1.96431714
15MKNK11.86939116
16CDK121.83649587
17ACVR1B1.80819082
18EEF2K1.76412811
19CCNB11.75531982
20TAF11.74363673
21PLK41.71781426
22STK41.69662443
23BRSK11.68326943
24TLK11.66668419
25PLK31.66621450
26RPS6KA41.65340217
27CDK71.65318274
28VRK11.64639134
29CDK41.62787226
30CHEK21.60263923
31TSSK61.60097124
32STK101.58885478
33PNCK1.53124838
34DYRK31.44407090
35TESK21.44267235
36MAP3K81.42062338
37RPS6KB21.39203265
38EIF2AK31.35132697
39CLK11.34874161
40CHEK11.33432269
41ZAK1.31461067
42MAP3K101.28071792
43MST41.27094899
44MKNK21.20656624
45TRIM281.20280002
46STK161.16893564
47TGFBR11.14829100
48BRD41.14541258
49CDK61.13146221
50AURKA1.08410363
51SCYL21.08230208
52EIF2AK21.06877096
53ATM1.06094974
54SMG11.05210022
55NME21.00909378
56MST1R0.96379251
57STK30.95355779
58PKN20.94916161
59MELK0.92901865
60MAP4K10.91409059
61PAK40.90471220
62NME10.89749892
63PIM10.87735780
64CDK20.86795443
65BCR0.79788596
66PDK20.79647975
67CDK80.78874367
68PLK20.74965113
69CDK10.74811516
70LATS10.64113846
71PBK0.63727338
72ERBB40.63347006
73FLT30.62330494
74NEK90.61910101
75BRAF0.60178378
76YES10.60075994
77LRRK20.60068136
78TESK10.59875906
79TTN0.59369371
80BLK0.55855459
81RPS6KA50.55276640
82BTK0.53218080
83CSNK2A10.52799240
84CSNK2A20.49252274
85CDK180.48763242
86PAK10.48026809
87CSNK1G30.47538816
88CDK150.46897157
89MET0.46717248
90CDK140.46048240
91CSNK1G10.45411733
92CDK11A0.44818603
93TRPM70.44687829
94ALK0.44361771
95LATS20.42547383
96CSNK1E0.42393063
97TEC0.42030746
98PRKDC0.40999720
99CSF1R0.40347330
100CSNK1A1L0.40331518
101PAK20.40275476
102JAK30.39206610
103TRIB30.38954712
104CDK90.38923455
105AKT20.37400345
106WNK30.36649976
107MAP2K30.35038957
108MAPKAPK50.34898932
109MTOR0.34644305
110CDK30.32508005
111EPHA20.32098413
112MAPK140.30793386
113FGFR10.30373133
114STK38L0.29648424
115AKT10.29171007
116MAP4K20.28943645
117NUAK10.27402300
118MINK10.26287577
119BMPR1B0.26064253
120LYN0.25817676
121ERBB30.25762446
122CSNK1D0.25268165
123CSNK1G20.24725861
124KIT0.22799399
125ZAP700.22499573
126MAPKAPK20.22332353
127MARK30.22329600
128RPS6KL10.21915813
129RPS6KC10.21915813
130MAPK110.20853026
131MAP2K70.20236387
132RPS6KA60.20035323
133IRAK40.19853921
134DAPK10.18982511

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030305.76743138
2Mismatch repair_Homo sapiens_hsa034304.70086606
3Homologous recombination_Homo sapiens_hsa034403.41447931
4Base excision repair_Homo sapiens_hsa034103.36258997
5Cell cycle_Homo sapiens_hsa041103.31651711
6Nucleotide excision repair_Homo sapiens_hsa034203.00183809
7Spliceosome_Homo sapiens_hsa030402.97717132
8One carbon pool by folate_Homo sapiens_hsa006702.83030075
9Fanconi anemia pathway_Homo sapiens_hsa034602.79776485
10Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.73188940
11RNA transport_Homo sapiens_hsa030132.70715941
12Non-homologous end-joining_Homo sapiens_hsa034502.53614207
13Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.19804280
14Ribosome_Homo sapiens_hsa030102.05309704
15Proteasome_Homo sapiens_hsa030501.99717898
16* Pyrimidine metabolism_Homo sapiens_hsa002401.95185123
17RNA polymerase_Homo sapiens_hsa030201.89979315
18p53 signaling pathway_Homo sapiens_hsa041151.84037378
19Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.78182398
20mRNA surveillance pathway_Homo sapiens_hsa030151.76736401
21Systemic lupus erythematosus_Homo sapiens_hsa053221.76624427
22RNA degradation_Homo sapiens_hsa030181.62921906
23Protein export_Homo sapiens_hsa030601.57454733
24Basal transcription factors_Homo sapiens_hsa030221.49992616
25Pyruvate metabolism_Homo sapiens_hsa006201.42650238
26Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.30586193
27Viral carcinogenesis_Homo sapiens_hsa052031.29620158
282-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.27636110
29Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.20912086
30Carbon metabolism_Homo sapiens_hsa012001.19468692
31Folate biosynthesis_Homo sapiens_hsa007901.17850290
32Epstein-Barr virus infection_Homo sapiens_hsa051691.15293949
33Propanoate metabolism_Homo sapiens_hsa006401.13275854
34Herpes simplex infection_Homo sapiens_hsa051681.11698658
35Vitamin B6 metabolism_Homo sapiens_hsa007501.06962061
36Parkinsons disease_Homo sapiens_hsa050121.05203508
37Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.04871229
38HTLV-I infection_Homo sapiens_hsa051661.04138885
39MicroRNAs in cancer_Homo sapiens_hsa052061.03256968
40Oocyte meiosis_Homo sapiens_hsa041141.02536344
41Small cell lung cancer_Homo sapiens_hsa052221.02071550
42Antigen processing and presentation_Homo sapiens_hsa046121.00399759
43Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.96431706
44* Purine metabolism_Homo sapiens_hsa002300.94647795
45Huntingtons disease_Homo sapiens_hsa050160.93440431
46Oxidative phosphorylation_Homo sapiens_hsa001900.92440450
47Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.91115742
48Primary immunodeficiency_Homo sapiens_hsa053400.88927424
49Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.88798732
50Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.88583896
51Fatty acid elongation_Homo sapiens_hsa000620.87565493
52Steroid biosynthesis_Homo sapiens_hsa001000.83862337
53Transcriptional misregulation in cancer_Homo sapiens_hsa052020.81611965
54Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.77048307
55Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.76446739
56Chronic myeloid leukemia_Homo sapiens_hsa052200.75864335
57Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.75345020
58Alcoholism_Homo sapiens_hsa050340.73304675
59Measles_Homo sapiens_hsa051620.71307588
60Hepatitis B_Homo sapiens_hsa051610.70838776
61Apoptosis_Homo sapiens_hsa042100.66567056
62Legionellosis_Homo sapiens_hsa051340.65457777
63NF-kappa B signaling pathway_Homo sapiens_hsa040640.64878591
64Viral myocarditis_Homo sapiens_hsa054160.63921320
65Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.61622656
66Colorectal cancer_Homo sapiens_hsa052100.60750735
67Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.56149266
68Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.55040585
69Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.53948783
70Hematopoietic cell lineage_Homo sapiens_hsa046400.53373162
71Alzheimers disease_Homo sapiens_hsa050100.51865419
72Shigellosis_Homo sapiens_hsa051310.51811694
73Pentose phosphate pathway_Homo sapiens_hsa000300.50748093
74Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.50010468
75Selenocompound metabolism_Homo sapiens_hsa004500.49838563
76Basal cell carcinoma_Homo sapiens_hsa052170.49190104
77TGF-beta signaling pathway_Homo sapiens_hsa043500.47830752
78Pancreatic cancer_Homo sapiens_hsa052120.47437834
79* Glutathione metabolism_Homo sapiens_hsa004800.47415880
80Thyroid cancer_Homo sapiens_hsa052160.47231997
81Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.45881874
82N-Glycan biosynthesis_Homo sapiens_hsa005100.45824310
83Prostate cancer_Homo sapiens_hsa052150.45593106
84Hippo signaling pathway_Homo sapiens_hsa043900.45144557
85Notch signaling pathway_Homo sapiens_hsa043300.44064999
86Lysine degradation_Homo sapiens_hsa003100.43338002
87Sulfur relay system_Homo sapiens_hsa041220.42967896
88Non-small cell lung cancer_Homo sapiens_hsa052230.42561869
89Bladder cancer_Homo sapiens_hsa052190.42329599
90Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.42310057
91Influenza A_Homo sapiens_hsa051640.40980040
92Adherens junction_Homo sapiens_hsa045200.40849553
93Intestinal immune network for IgA production_Homo sapiens_hsa046720.40307551
94Pathways in cancer_Homo sapiens_hsa052000.40027719
95* Metabolic pathways_Homo sapiens_hsa011000.39130029
96Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.35983837
97Fatty acid metabolism_Homo sapiens_hsa012120.35928135
98Leukocyte transendothelial migration_Homo sapiens_hsa046700.34135947
99Wnt signaling pathway_Homo sapiens_hsa043100.33860924
100Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.33396579
101Drug metabolism - other enzymes_Homo sapiens_hsa009830.33209269
102Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.33032838
103NOD-like receptor signaling pathway_Homo sapiens_hsa046210.32666957
104Leishmaniasis_Homo sapiens_hsa051400.31718079
105Biosynthesis of amino acids_Homo sapiens_hsa012300.31204411
106B cell receptor signaling pathway_Homo sapiens_hsa046620.30945504
107Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.30828891
108Proteoglycans in cancer_Homo sapiens_hsa052050.29542066
109Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.28756427
110HIF-1 signaling pathway_Homo sapiens_hsa040660.27572985
111Cyanoamino acid metabolism_Homo sapiens_hsa004600.27166932
112Melanoma_Homo sapiens_hsa052180.26809329
113Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.26265839
114Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.24933380
115T cell receptor signaling pathway_Homo sapiens_hsa046600.24273461
116Acute myeloid leukemia_Homo sapiens_hsa052210.24168406
117FoxO signaling pathway_Homo sapiens_hsa040680.23812035
118Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.23381899
119Cysteine and methionine metabolism_Homo sapiens_hsa002700.23210402
120Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.22296278
121Fructose and mannose metabolism_Homo sapiens_hsa000510.21916973
122RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.21822076
123Arginine and proline metabolism_Homo sapiens_hsa003300.21517861
124Renin-angiotensin system_Homo sapiens_hsa046140.21328002
125Central carbon metabolism in cancer_Homo sapiens_hsa052300.21050728
126Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.21039016
127PI3K-Akt signaling pathway_Homo sapiens_hsa041510.20948817
128Hedgehog signaling pathway_Homo sapiens_hsa043400.20401257
129Jak-STAT signaling pathway_Homo sapiens_hsa046300.20081489
130Asthma_Homo sapiens_hsa053100.18988445
131Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.18550309
132Toxoplasmosis_Homo sapiens_hsa051450.18109458
133AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.17384000
134Autoimmune thyroid disease_Homo sapiens_hsa053200.15931551
135Butanoate metabolism_Homo sapiens_hsa006500.13997781
136Arginine biosynthesis_Homo sapiens_hsa002200.12529383
137Galactose metabolism_Homo sapiens_hsa000520.08349779
138Tight junction_Homo sapiens_hsa045300.04820383
139Fatty acid degradation_Homo sapiens_hsa000710.04017710
140Pentose and glucuronate interconversions_Homo sapiens_hsa000400.03250808

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