USP1

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 member of the ubiquitin-specific processing (UBP) family of proteases that is a deubiquitinating enzyme (DUB) with His and Cys domains. This protein is located in the cytoplasm and cleaves the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. The protein specifically deubiquitinates a protein in the Fanconi anemia (FA) DNA repair pathway. Alternate transcriptional splice variants have been characterized. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1nuclear pore complex assembly (GO:0051292)5.00229952
2protein localization to kinetochore (GO:0034501)4.95998833
3nuclear pore organization (GO:0006999)4.84280071
4protein localization to chromosome, centromeric region (GO:0071459)4.83759031
5mitotic sister chromatid cohesion (GO:0007064)4.63495593
6DNA unwinding involved in DNA replication (GO:0006268)4.59182576
7mitotic chromosome condensation (GO:0007076)4.46862411
8mitotic metaphase plate congression (GO:0007080)4.44766718
9DNA replication initiation (GO:0006270)4.33393605
10DNA replication checkpoint (GO:0000076)4.28582936
11DNA strand elongation involved in DNA replication (GO:0006271)4.23421913
12regulation of DNA endoreduplication (GO:0032875)4.21496071
13mitotic nuclear envelope disassembly (GO:0007077)4.15560380
14DNA ligation (GO:0006266)4.14894605
15regulation of attachment of spindle microtubules to kinetochore (GO:0051988)4.14672806
16DNA replication-dependent nucleosome organization (GO:0034723)4.08681433
17DNA replication-dependent nucleosome assembly (GO:0006335)4.08681433
18DNA strand elongation (GO:0022616)4.02774063
19establishment of integrated proviral latency (GO:0075713)3.99662264
20mitotic sister chromatid segregation (GO:0000070)3.97417013
21kinetochore organization (GO:0051383)3.96896987
22chromatin remodeling at centromere (GO:0031055)3.95041951
23regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)3.94510764
24metaphase plate congression (GO:0051310)3.91611795
25sister chromatid segregation (GO:0000819)3.88589329
26membrane disassembly (GO:0030397)3.87731126
27nuclear envelope disassembly (GO:0051081)3.87731126
28pore complex assembly (GO:0046931)3.84881724
29CENP-A containing nucleosome assembly (GO:0034080)3.84479795
30histone exchange (GO:0043486)3.83467944
31regulation of spindle organization (GO:0090224)3.82223243
32DNA replication-independent nucleosome assembly (GO:0006336)3.82008578
33DNA replication-independent nucleosome organization (GO:0034724)3.82008578
34telomere maintenance via semi-conservative replication (GO:0032201)3.80512324
35double-strand break repair via nonhomologous end joining (GO:0006303)3.74997664
36non-recombinational repair (GO:0000726)3.74997664
37attachment of spindle microtubules to kinetochore (GO:0008608)3.74565336
38positive regulation of chromosome segregation (GO:0051984)3.72693455
39somatic diversification of immune receptors via somatic mutation (GO:0002566)3.72579049
40somatic hypermutation of immunoglobulin genes (GO:0016446)3.72579049
41telomere maintenance via recombination (GO:0000722)3.66302717
42negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)3.65208283
43mitotic recombination (GO:0006312)3.64990913
44regulation of histone H3-K9 methylation (GO:0051570)3.61374745
45regulation of mitotic sister chromatid separation (GO:0010965)3.60790814
46protein localization to chromosome (GO:0034502)3.58991336
47translesion synthesis (GO:0019985)3.56531704
48chromosome condensation (GO:0030261)3.55100132
49meiotic chromosome segregation (GO:0045132)3.54348321
50spindle assembly checkpoint (GO:0071173)3.52470765
51mitotic spindle checkpoint (GO:0071174)3.52338753
52mitotic spindle assembly checkpoint (GO:0007094)3.52274504
53establishment of chromosome localization (GO:0051303)3.50608347
54nucleobase biosynthetic process (GO:0046112)3.48400380
55chromatin assembly or disassembly (GO:0006333)3.47345384
56positive regulation of mitotic sister chromatid separation (GO:1901970)3.45954572
57positive regulation of mitotic metaphase/anaphase transition (GO:0045842)3.45954572
58positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)3.45954572
59regulation of RNA export from nucleus (GO:0046831)3.45857017
60regulation of chromosome segregation (GO:0051983)3.41938452
61purine nucleobase biosynthetic process (GO:0009113)3.36831850
62DNA duplex unwinding (GO:0032508)3.34623193
63DNA geometric change (GO:0032392)3.34413992
64regulation of centriole replication (GO:0046599)3.33496375
65regulation of centrosome cycle (GO:0046605)3.31987322
66regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450913.30864628
67mitotic G2/M transition checkpoint (GO:0044818)3.30724819
68DNA packaging (GO:0006323)3.28877476
69kinetochore assembly (GO:0051382)3.24720240
70mitotic cell cycle (GO:0000278)3.24430827
71DNA double-strand break processing (GO:0000729)3.23748286
72regulation of sister chromatid cohesion (GO:0007063)3.22546866
73formation of translation preinitiation complex (GO:0001731)3.22215910
74heterochromatin organization (GO:0070828)3.21872027
75ATP-dependent chromatin remodeling (GO:0043044)3.21390381
76negative regulation of mRNA splicing, via spliceosome (GO:0048025)3.20316497
77DNA conformation change (GO:0071103)3.19717908
78regulation of centrosome duplication (GO:0010824)3.18913176
79synapsis (GO:0007129)3.18197268
80microtubule depolymerization (GO:0007019)3.17289211
81chromosome segregation (GO:0007059)3.17246903
82synaptonemal complex assembly (GO:0007130)3.17210006
83ribosome assembly (GO:0042255)3.16449437
84telomere maintenance (GO:0000723)3.16390370
85negative regulation of mRNA processing (GO:0050686)3.15136480
86cilium or flagellum-dependent cell motility (GO:0001539)3.14678575
87telomere organization (GO:0032200)3.14453136
88protein K6-linked ubiquitination (GO:0085020)3.12518904
89sister chromatid cohesion (GO:0007062)3.10598542
90nucleotide-excision repair, DNA gap filling (GO:0006297)3.10258955
91piRNA metabolic process (GO:0034587)3.09911464
92regulation of mitotic spindle organization (GO:0060236)3.09587793
93telomere maintenance via telomere lengthening (GO:0010833)3.09181903
94resolution of meiotic recombination intermediates (GO:0000712)3.08927944
95nuclear envelope organization (GO:0006998)3.08044851
96regulation of mitotic metaphase/anaphase transition (GO:0030071)3.07552567
97spindle checkpoint (GO:0031577)3.06980809
98chromatin assembly (GO:0031497)3.04791795
99folic acid-containing compound biosynthetic process (GO:0009396)3.04660372
100IMP biosynthetic process (GO:0006188)3.02911892
101binding of sperm to zona pellucida (GO:0007339)3.00577373
102regulation of metaphase/anaphase transition of cell cycle (GO:1902099)3.00526550
103synaptonemal complex organization (GO:0070193)2.97657143
104fusion of sperm to egg plasma membrane (GO:0007342)2.97478284
105postreplication repair (GO:0006301)2.97039119
106maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)2.96788526
107negative regulation of chromosome segregation (GO:0051985)2.96008512
108sperm-egg recognition (GO:0035036)2.94628700
109DNA synthesis involved in DNA repair (GO:0000731)2.93202676
110DNA topological change (GO:0006265)2.93132922
111negative regulation of histone methylation (GO:0031061)2.91522028
112* monoubiquitinated protein deubiquitination (GO:0035520)2.91118683
113negative regulation of mitotic metaphase/anaphase transition (GO:0045841)2.90587711
114negative regulation of sister chromatid segregation (GO:0033046)2.90587711
115negative regulation of mitotic sister chromatid separation (GO:2000816)2.90587711
116negative regulation of mitotic sister chromatid segregation (GO:0033048)2.90587711
117regulation of double-strand break repair via homologous recombination (GO:0010569)2.89553927
118gene silencing by RNA (GO:0031047)2.89546504
119ribosome biogenesis (GO:0042254)2.88447695
120chromosome organization (GO:0051276)2.88237711
121regulation of sister chromatid segregation (GO:0033045)2.87075533
122regulation of mitotic sister chromatid segregation (GO:0033047)2.87075533

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXM1_23109430_ChIP-Seq_U2OS_Human5.48532511
2* E2F4_17652178_ChIP-ChIP_JURKAT_Human4.29175877
3MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse4.17208039
4MYC_18555785_ChIP-Seq_MESCs_Mouse3.61433994
5* FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human3.59227514
6* EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.98103381
7AR_21909140_ChIP-Seq_LNCAP_Human2.71008132
8MYC_19079543_ChIP-ChIP_MESCs_Mouse2.57944286
9* MYC_19030024_ChIP-ChIP_MESCs_Mouse2.43412504
10E2F1_21310950_ChIP-Seq_MCF-7_Human2.42280531
11EGR1_19374776_ChIP-ChIP_THP-1_Human2.41594605
12* KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.22325187
13* MYC_18358816_ChIP-ChIP_MESCs_Mouse2.22252804
14KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.13375079
15EST1_17652178_ChIP-ChIP_JURKAT_Human2.13225434
16NELFA_20434984_ChIP-Seq_ESCs_Mouse2.06358363
17* CREB1_15753290_ChIP-ChIP_HEK293T_Human2.02754082
18E2F7_22180533_ChIP-Seq_HELA_Human10.3788094
19ETS1_20019798_ChIP-Seq_JURKAT_Human1.99647695
20* MYCN_18555785_ChIP-Seq_MESCs_Mouse1.97974377
21MYC_22102868_ChIP-Seq_BL_Human1.97717360
22XRN2_22483619_ChIP-Seq_HELA_Human1.94882574
23* VDR_23849224_ChIP-Seq_CD4+_Human1.93526970
24GABP_17652178_ChIP-ChIP_JURKAT_Human1.91970898
25* MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.79276114
26PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.77308771
27JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.77299314
28* FOXP3_21729870_ChIP-Seq_TREG_Human1.70013215
29* CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.68880468
30* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.59800857
31ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.59764152
32GABP_19822575_ChIP-Seq_HepG2_Human1.57754434
33SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.57302062
34* MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.56700029
35POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.55036325
36* KDM5A_27292631_Chip-Seq_BREAST_Human1.53463974
37CIITA_25753668_ChIP-Seq_RAJI_Human1.46819548
38* DCP1A_22483619_ChIP-Seq_HELA_Human1.46082015
39ZFX_18555785_ChIP-Seq_MESCs_Mouse1.45662695
40TTF2_22483619_ChIP-Seq_HELA_Human1.45034678
41TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.43973046
42HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.40837613
43TP63_19390658_ChIP-ChIP_HaCaT_Human1.38757145
44E2F1_18555785_ChIP-Seq_MESCs_Mouse1.34932818
45ELF1_17652178_ChIP-ChIP_JURKAT_Human1.33497804
46YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.31852133
47* FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.31215841
48* ELK1_19687146_ChIP-ChIP_HELA_Human1.31113307
49HOXB4_20404135_ChIP-ChIP_EML_Mouse1.30451136
50SALL1_21062744_ChIP-ChIP_HESCs_Human1.30245622
51KLF4_18555785_ChIP-Seq_MESCs_Mouse1.29930086
52CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.28930458
53NANOG_18555785_ChIP-Seq_MESCs_Mouse1.28728131
54* E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.26264237
55RBPJ_22232070_ChIP-Seq_NCS_Mouse1.23469228
56* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.21941377
57E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.19258168
58HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.18474058
59ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.15352141
60PADI4_21655091_ChIP-ChIP_MCF-7_Human1.14890407
61* CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.13477366
62FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.12008806
63EWS_26573619_Chip-Seq_HEK293_Human1.11149238
64ERG_20887958_ChIP-Seq_HPC-7_Mouse1.10983578
65STAT3_1855785_ChIP-Seq_MESCs_Mouse1.10251285
66* DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.09968085
67POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.09745191
68THAP11_20581084_ChIP-Seq_MESCs_Mouse1.07051042
69SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.05341035
70VDR_21846776_ChIP-Seq_THP-1_Human1.03969550
71SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.02742485
72FUS_26573619_Chip-Seq_HEK293_Human1.00620374
73HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.00440796
74SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.98562143
75* CCND1_20090754_ChIP-ChIP_RETINA_Mouse0.97502675
76SPI1_23547873_ChIP-Seq_NB4_Human0.97451476
77MYB_21317192_ChIP-Seq_ERMYB_Mouse0.96402063
78NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.95661129
79TFEB_21752829_ChIP-Seq_HELA_Human0.95000782
80SRF_21415370_ChIP-Seq_HL-1_Mouse0.94270974
81* MYB_26560356_Chip-Seq_TH1_Human0.94004552
82SOX2_18555785_ChIP-Seq_MESCs_Mouse0.93751381
83BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.93251392
84YY1_21170310_ChIP-Seq_MESCs_Mouse0.91595584
85NANOG_16153702_ChIP-ChIP_HESCs_Human0.91359218
86CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.91038810
87* MYB_26560356_Chip-Seq_TH2_Human0.90518911
88SOX17_20123909_ChIP-Seq_XEN_Mouse0.89863328
89NANOG_21062744_ChIP-ChIP_HESCs_Human0.89697569
90CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.89540037
91NOTCH1_21737748_ChIP-Seq_TLL_Human0.88826771
92FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.88278158
93NOTCH1_17114293_ChIP-ChIP_T-ALL_Human0.88073826
94TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.86866371
95MYC_18940864_ChIP-ChIP_HL60_Human0.86419096
96GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.86067134
97SOX2_16153702_ChIP-ChIP_HESCs_Human0.85920366
98IRF1_19129219_ChIP-ChIP_H3396_Human0.83645295
99UTX_26944678_Chip-Seq_JUKART_Human0.82527834
100* TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.81615786
101POU5F1_16153702_ChIP-ChIP_HESCs_Human0.80309092
102ZNF263_19887448_ChIP-Seq_K562_Human0.77756967
103SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.77104578
104PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.76888882
105PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.76699263
106ESR1_15608294_ChIP-ChIP_MCF-7_Human0.76379758
107* KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.75865083
108BRD4_27068464_Chip-Seq_AML-cells_Mouse0.75310455
109TCF7_22412390_ChIP-Seq_EML_Mouse0.74939080
110ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.74432422
111HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.73970672
112CHD1_26751641_Chip-Seq_LNCaP_Human0.73031352
113MAF_26560356_Chip-Seq_TH1_Human0.72889066
114BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.71328795
115GATA2_22383799_ChIP-Seq_G1ME_Mouse0.69146852
116* CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.65771199
117IGF1R_20145208_ChIP-Seq_DFB_Human0.64079111
118POU3F2_20337985_ChIP-ChIP_501MEL_Human0.63793924
119* FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human0.61774772

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching4.84038503
2* MP0010094_abnormal_chromosome_stability4.36785386
3MP0008057_abnormal_DNA_replication4.32618387
4MP0003111_abnormal_nucleus_morphology4.27414597
5MP0004957_abnormal_blastocyst_morpholog3.80181076
6MP0003077_abnormal_cell_cycle3.77266628
7MP0008058_abnormal_DNA_repair3.05647459
8MP0008877_abnormal_DNA_methylation2.96856984
9MP0008007_abnormal_cellular_replicative2.85107582
10MP0002396_abnormal_hematopoietic_system2.57861703
11MP0005410_abnormal_fertilization2.56081767
12MP0010307_abnormal_tumor_latency2.49344651
13MP0001730_embryonic_growth_arrest2.39313277
14MP0010352_gastrointestinal_tract_polyps2.23014473
15MP0000350_abnormal_cell_proliferation2.21520728
16MP0009697_abnormal_copulation2.12610957
17MP0008932_abnormal_embryonic_tissue2.10469765
18MP0004808_abnormal_hematopoietic_stem2.03369970
19MP0003123_paternal_imprinting2.00315154
20* MP0001929_abnormal_gametogenesis1.99344387
21MP0006292_abnormal_olfactory_placode1.84243174
22* MP0002210_abnormal_sex_determination1.83210788
23MP0005380_embryogenesis_phenotype1.79527972
24MP0001672_abnormal_embryogenesis/_devel1.79527972
25MP0001697_abnormal_embryo_size1.75635065
26MP0005397_hematopoietic_system_phenotyp1.74060089
27MP0001545_abnormal_hematopoietic_system1.74060089
28MP0003786_premature_aging1.71104584
29MP0000490_abnormal_crypts_of1.68560578
30MP0005076_abnormal_cell_differentiation1.65370040
31MP0003984_embryonic_growth_retardation1.63453789
32* MP0001145_abnormal_male_reproductive1.59461324
33MP0002088_abnormal_embryonic_growth/wei1.59025118
34MP0002080_prenatal_lethality1.53120616
35MP0003698_abnormal_male_reproductive1.52011617
36MP0002084_abnormal_developmental_patter1.51767301
37MP0002085_abnormal_embryonic_tissue1.50705258
38MP0002086_abnormal_extraembryonic_tissu1.50697858
39MP0002019_abnormal_tumor_incidence1.46241868
40MP0004197_abnormal_fetal_growth/weight/1.43401788
41MP0009333_abnormal_splenocyte_physiolog1.40706005
42* MP0000653_abnormal_sex_gland1.39945956
43MP0000313_abnormal_cell_death1.39334673
44MP0003763_abnormal_thymus_physiology1.32534930
45MP0009278_abnormal_bone_marrow1.29213765
46MP0003567_abnormal_fetal_cardiomyocyte1.28417976
47MP0001346_abnormal_lacrimal_gland1.22868560
48MP0000703_abnormal_thymus_morphology1.21908681
49MP0002697_abnormal_eye_size1.20615347
50* MP0002398_abnormal_bone_marrow1.19385916
51MP0003705_abnormal_hypodermis_morpholog1.18588151
52MP0006054_spinal_hemorrhage1.12842089
53MP0006035_abnormal_mitochondrial_morpho1.12062385
54MP0001286_abnormal_eye_development1.10717522
55MP0010234_abnormal_vibrissa_follicle1.06552674
56MP0003121_genomic_imprinting1.06006437
57MP0002722_abnormal_immune_system1.04071092
58MP0002160_abnormal_reproductive_system1.02249114
59* MP0002161_abnormal_fertility/fecundity1.00874857
60MP0002877_abnormal_melanocyte_morpholog1.00457473
61MP0002234_abnormal_pharynx_morphology0.99580355
62MP0009672_abnormal_birth_weight0.98793899
63MP0000689_abnormal_spleen_morphology0.98249640
64MP0001293_anophthalmia0.96119778
65MP0003941_abnormal_skin_development0.95165829
66MP0003890_abnormal_embryonic-extraembry0.93560874
67MP0002166_altered_tumor_susceptibility0.90577290
68MP0003718_maternal_effect0.90155179
69MP0002233_abnormal_nose_morphology0.87285078
70MP0001119_abnormal_female_reproductive0.86744318
71MP0002653_abnormal_ependyma_morphology0.85896986
72MP0009703_decreased_birth_body0.85253784
73MP0002429_abnormal_blood_cell0.85182089
74MP0005501_abnormal_skin_physiology0.81500612
75MP0005389_reproductive_system_phenotype0.81273194
76MP0009053_abnormal_anal_canal0.79857245
77MP0002111_abnormal_tail_morphology0.79783524
78MP0003861_abnormal_nervous_system0.79131378
79MP0002006_tumorigenesis0.78216578
80MP0002938_white_spotting0.78002866
81MP0000716_abnormal_immune_system0.77741340
82MP0003935_abnormal_craniofacial_develop0.76902548
83MP0004264_abnormal_extraembryonic_tissu0.76258387
84MP0002163_abnormal_gland_morphology0.76195468
85MP0000537_abnormal_urethra_morphology0.76137446
86MP0002009_preneoplasia0.75959800
87MP0003755_abnormal_palate_morphology0.75236964
88MP0005621_abnormal_cell_physiology0.74678878
89MP0003221_abnormal_cardiomyocyte_apopto0.73817979
90MP0003315_abnormal_perineum_morphology0.73422701
91MP0001915_intracranial_hemorrhage0.73005344
92MP0005384_cellular_phenotype0.71761217
93MP0002092_abnormal_eye_morphology0.71628531
94MP0003937_abnormal_limbs/digits/tail_de0.71506805
95MP0001849_ear_inflammation0.71034400
96MP0003385_abnormal_body_wall0.69126074
97MP0000858_altered_metastatic_potential0.68937365
98MP0000358_abnormal_cell_content/0.68777175
99MP0008789_abnormal_olfactory_epithelium0.68611526
100MP0002405_respiratory_system_inflammati0.68431504
101MP0003806_abnormal_nucleotide_metabolis0.65306552
102MP0000733_abnormal_muscle_development0.65282785
103MP0001800_abnormal_humoral_immune0.64240317
104MP0006072_abnormal_retinal_apoptosis0.64173906
105MP0006036_abnormal_mitochondrial_physio0.63328513
106MP0000428_abnormal_craniofacial_morphol0.63165733
107MP0003448_altered_tumor_morphology0.62797226
108MP0003115_abnormal_respiratory_system0.62241654
109MP0000477_abnormal_intestine_morphology0.61952084
110MP0003699_abnormal_female_reproductive0.61631239
111MP0005391_vision/eye_phenotype0.59883526
112MP0002177_abnormal_outer_ear0.58743510
113MP0003943_abnormal_hepatobiliary_system0.57846929
114MP0002114_abnormal_axial_skeleton0.57642925
115MP0002420_abnormal_adaptive_immunity0.57056319
116MP0000049_abnormal_middle_ear0.56647875
117MP0001188_hyperpigmentation0.56576279
118MP0005023_abnormal_wound_healing0.56483760
119MP0001529_abnormal_vocalization0.56424517
120MP0001177_atelectasis0.55865795
121MP0001819_abnormal_immune_cell0.55621440
122MP0000631_abnormal_neuroendocrine_gland0.54994724
123MP0002925_abnormal_cardiovascular_devel0.54944317
124MP0000432_abnormal_head_morphology0.54724058
125MP0001661_extended_life_span0.53597745
126MP0001727_abnormal_embryo_implantation0.53115661
127MP0004185_abnormal_adipocyte_glucose0.52915931
128MP0005075_abnormal_melanosome_morpholog0.52042543
129MP0010030_abnormal_orbit_morphology0.51989034
130MP0002452_abnormal_antigen_presenting0.51627955
131MP0002095_abnormal_skin_pigmentation0.50734642
132MP0003566_abnormal_cell_adhesion0.50641409
133MP0008995_early_reproductive_senescence0.49859768

Predicted human phenotypes

RankGene SetZ-score
1Birth length less than 3rd percentile (HP:0003561)4.39441031
2Chromsome breakage (HP:0040012)3.97384028
3Respiratory insufficiency due to defective ciliary clearance (HP:0200073)3.90153079
4Impulsivity (HP:0100710)3.69851050
5Chromosomal breakage induced by crosslinking agents (HP:0003221)3.62160665
6Abnormality of chromosome stability (HP:0003220)3.59919771
7Volvulus (HP:0002580)3.12039188
8Meckel diverticulum (HP:0002245)3.11291055
9Abnormality of the preputium (HP:0100587)3.03220039
10Selective tooth agenesis (HP:0001592)3.01127146
11Aplasia/Hypoplasia of the uvula (HP:0010293)2.95885876
12Abnormality of the ileum (HP:0001549)2.92091626
13Myelodysplasia (HP:0002863)2.88839713
14Breast hypoplasia (HP:0003187)2.87500117
15Reticulocytopenia (HP:0001896)2.86344188
16Ectopic kidney (HP:0000086)2.84083332
17Degeneration of anterior horn cells (HP:0002398)2.80550190
18Abnormality of the anterior horn cell (HP:0006802)2.80550190
19Abnormality of cells of the erythroid lineage (HP:0012130)2.76607753
20Prominent nose (HP:0000448)2.76187622
21Patellar aplasia (HP:0006443)2.72972309
22Abnormal number of erythroid precursors (HP:0012131)2.70285744
23Increased nuchal translucency (HP:0010880)2.69671540
24Absent/shortened dynein arms (HP:0200106)2.68937681
25Dynein arm defect of respiratory motile cilia (HP:0012255)2.68937681
26Facial hemangioma (HP:0000329)2.68573776
27Ependymoma (HP:0002888)2.64692937
28Duodenal stenosis (HP:0100867)2.64617366
29Small intestinal stenosis (HP:0012848)2.64617366
30Medulloblastoma (HP:0002885)2.64431864
31Abnormal spermatogenesis (HP:0008669)2.63358881
32Nasal polyposis (HP:0100582)2.60156254
33Aplasia/Hypoplasia of the patella (HP:0006498)2.55977356
34Oral leukoplakia (HP:0002745)2.54582392
35Colon cancer (HP:0003003)2.53971639
36Sloping forehead (HP:0000340)2.53839260
37Triphalangeal thumb (HP:0001199)2.50135125
38Chronic bronchitis (HP:0004469)2.46676569
39Cortical dysplasia (HP:0002539)2.45990020
40Deep philtrum (HP:0002002)2.44706016
41High pitched voice (HP:0001620)2.43808280
42Proximal placement of thumb (HP:0009623)2.42872281
43Abnormality of the carotid arteries (HP:0005344)2.42171253
44Acute myeloid leukemia (HP:0004808)2.41080462
45Deviation of the thumb (HP:0009603)2.39106738
46Aplasia/Hypoplasia of the sacrum (HP:0008517)2.38837161
47Basal cell carcinoma (HP:0002671)2.37883262
48Hypoplasia of the capital femoral epiphysis (HP:0003090)2.37414504
49Thrombocytosis (HP:0001894)2.37255930
50Rhinitis (HP:0012384)2.35395633
51Abnormality of the fingertips (HP:0001211)2.35109474
52Absent forearm bone (HP:0003953)2.34007199
53Aplasia involving forearm bones (HP:0009822)2.34007199
5411 pairs of ribs (HP:0000878)2.30956257
55Squamous cell carcinoma (HP:0002860)2.28206538
56Microvesicular hepatic steatosis (HP:0001414)2.27144301
57Absent thumb (HP:0009777)2.25709161
58Bronchitis (HP:0012387)2.24447376
59Choanal atresia (HP:0000453)2.24178133
60Bone marrow hypocellularity (HP:0005528)2.23783813
61Abnormality of DNA repair (HP:0003254)2.19564970
62Short 4th metacarpal (HP:0010044)2.18254368
63Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.18254368
64Aplastic anemia (HP:0001915)2.17845863
65Atresia of the external auditory canal (HP:0000413)2.17400939
66Rhabdomyosarcoma (HP:0002859)2.17397824
67Cafe-au-lait spot (HP:0000957)2.16404597
68Abnormality of chromosome segregation (HP:0002916)2.16050918
69Duplicated collecting system (HP:0000081)2.16023384
70Entropion (HP:0000621)2.15597238
71Neoplasm of the pancreas (HP:0002894)2.14815240
72Abnormal respiratory epithelium morphology (HP:0012253)2.11268143
73Abnormal respiratory motile cilium morphology (HP:0005938)2.11268143
74Carpal bone hypoplasia (HP:0001498)2.10506209
75Abnormality of cochlea (HP:0000375)2.10019891
76Rectovaginal fistula (HP:0000143)2.09823578
77Rectal fistula (HP:0100590)2.09823578
78Neoplasm of the colon (HP:0100273)2.09816484
79Recurrent bronchitis (HP:0002837)2.09627914
80Septate vagina (HP:0001153)2.07457684
81Embryonal neoplasm (HP:0002898)2.06827694
82Agnosia (HP:0010524)2.06540893
83Abnormality of the duodenum (HP:0002246)2.05698094
84Abnormal respiratory motile cilium physiology (HP:0012261)2.04487617
85Horseshoe kidney (HP:0000085)2.03893599
86Glioma (HP:0009733)2.02327265
87Cutaneous melanoma (HP:0012056)1.99979705
88Abnormality of the nasal mucosa (HP:0000433)1.98929306
89Duplication of thumb phalanx (HP:0009942)1.98714973
90Supernumerary spleens (HP:0009799)1.97705355
91Nephroblastoma (Wilms tumor) (HP:0002667)1.95761539
92Tracheoesophageal fistula (HP:0002575)1.95122742
93Short middle phalanx of the 5th finger (HP:0004220)1.94899940
94Clubbing of toes (HP:0100760)1.94843619
95Abnormality of the renal collecting system (HP:0004742)1.94075603
96Short thumb (HP:0009778)1.92497761
97Abnormal number of incisors (HP:0011064)1.88891770
98Microglossia (HP:0000171)1.86952719
99Aplasia/Hypoplasia of the sternum (HP:0006714)1.86620255
100Rough bone trabeculation (HP:0100670)1.85114240
101Biliary tract neoplasm (HP:0100574)1.84940727
102Long eyelashes (HP:0000527)1.83803901
103Male infertility (HP:0003251)1.83096365
104Infertility (HP:0000789)1.81069500
105Abnormality of the labia minora (HP:0012880)1.80304870
106Abnormal lung lobation (HP:0002101)1.80257182
107Absent epiphyses (HP:0010577)1.79938945
108Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)1.79938945
109Hypoplastic pelvis (HP:0008839)1.79873133
110Abnormality of the pons (HP:0007361)1.79803949
111Overlapping toe (HP:0001845)1.79794605
112Embryonal renal neoplasm (HP:0011794)1.79754486
113Absent radius (HP:0003974)1.79371303
114Missing ribs (HP:0000921)1.78953636
115Multiple enchondromatosis (HP:0005701)1.78948010
116Arteriovenous malformation (HP:0100026)1.77778739
117Sandal gap (HP:0001852)1.77660190
118Breast carcinoma (HP:0003002)1.77419287
119Neoplasm of the oral cavity (HP:0100649)1.77202790
120Bronchiectasis (HP:0002110)1.77038448
121Hypoplasia of the pons (HP:0012110)1.76824764
122Premature graying of hair (HP:0002216)1.75932723
123Abnormal umbilical cord blood vessels (HP:0011403)1.75646856
124Single umbilical artery (HP:0001195)1.75646856
125Abnormality of the fetal cardiovascular system (HP:0010948)1.75646856
126Intestinal fistula (HP:0100819)1.74741446
127Slender long bone (HP:0003100)1.74482389
128Acute lymphatic leukemia (HP:0006721)1.74427078
129Poikiloderma (HP:0001029)1.74392395
130Capillary hemangiomas (HP:0005306)1.74229113
131Azoospermia (HP:0000027)1.73280738
132Abnormality of the astrocytes (HP:0100707)1.72572269
133Astrocytoma (HP:0009592)1.72572269
134Facial cleft (HP:0002006)1.69517830
135Urethral obstruction (HP:0000796)1.68950414
136Vaginal fistula (HP:0004320)1.66680917
137Uterine leiomyosarcoma (HP:0002891)1.60071109
138Leiomyosarcoma (HP:0100243)1.60071109
139Progressive muscle weakness (HP:0003323)1.59897698
140Skull defect (HP:0001362)1.58571908
141Cystic hygroma (HP:0000476)1.58029139
142Neoplasm of striated muscle (HP:0009728)1.57952369
143Neoplasm of the small intestine (HP:0100833)1.57804143
144Radioulnar synostosis (HP:0002974)1.56113523
145Morphological abnormality of the inner ear (HP:0011390)1.56069863
146Oligodactyly (hands) (HP:0001180)1.56017651
147Malignant gastrointestinal tract tumors (HP:0006749)1.55277615
148Gastrointestinal carcinoma (HP:0002672)1.55277615

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CDC74.93106344
2WEE14.02061673
3NEK23.86761252
4BUB12.92379344
5PBK2.54611561
6TTK2.38953814
7PDK42.37828268
8PDK32.37828268
9CDK122.34264876
10SRPK12.32275431
11BRSK22.27662602
12ACVR1B2.20599789
13EIF2AK12.17962448
14EEF2K2.10420060
15PLK42.05082554
16VRK21.90070028
17DYRK31.89342939
18PLK11.86020287
19TAF11.81990465
20CDK41.81649022
21STK31.79921996
22ATR1.77444464
23AURKB1.74148643
24CHEK21.67851753
25RPS6KA41.66977751
26LATS11.66611824
27PASK1.60990220
28CDK71.56861215
29PKN21.55205119
30NEK11.50242752
31MKNK11.49718545
32CHEK11.46731831
33SCYL21.42227268
34MAP3K101.41004588
35STK101.40331077
36TESK11.34481040
37MKNK21.33593190
38MST41.28631957
39CCNB11.28431394
40PLK31.27073841
41TRIM281.26640477
42MAP3K81.26133079
43PDK21.25064965
44EIF2AK31.23952540
45BRSK11.23010871
46RPS6KB21.22687621
47STK41.19289328
48NME21.18586673
49MAP4K11.18332309
50CDK61.17829125
51TSSK61.17350188
52NUAK11.16842594
53TESK21.13507905
54ATM1.13470954
55VRK11.04616140
56TLK10.99904189
57PIM10.98862401
58CDK20.91852067
59ERBB30.90506032
60SMG10.87231014
61CDK30.85071229
62MELK0.82760719
63TRIB30.80140173
64STK38L0.78302943
65BRD40.78011955
66AURKA0.78006672
67PAK40.77542344
68BRAF0.75190040
69CDK80.74120797
70PNCK0.73789485
71TGFBR10.72852774
72ALK0.68747489
73BCR0.66436038
74* CDK10.66307343
75MTOR0.62443226
76YES10.62303634
77FLT30.60804064
78ICK0.59758501
79MAP2K30.55918579
80LATS20.54136347
81LRRK20.53275952
82CSNK2A20.51985239
83MARK30.50881647
84CDK190.50341280
85ZAK0.49501404
86CDK90.49440434
87ERBB40.48839770
88PAK10.47247450
89STK160.46066389
90CSNK2A10.45775315
91PAK20.45092411
92PRKD30.44845091
93NEK60.44691357
94BTK0.44054195
95CSNK1G10.41973237
96ZAP700.41460148
97CDK180.39689033
98STK390.39530065
99CDK11A0.39529123
100MST1R0.39440691
101JAK30.39101451
102BMPR1B0.38247469
103CDK150.37528331
104CDK140.37096627
105PRKDC0.36177602
106MAP3K50.35656692
107TEC0.34559518
108MAPK110.34015307
109RPS6KA50.33568428
110KSR10.32282446
111PLK20.30805087
112RAF10.30259902
113CSNK1D0.30254154
114MAPK140.30021912
115STK240.29909081
116GRK60.29607638
117CLK10.29196201
118CSNK1G30.29180162
119CSNK1E0.28460712
120CSF1R0.27671835
121MET0.27491951
122CSNK1G20.25446413
123NEK90.24783544
124NME10.24754554
125RPS6KB10.24299388
126GSK3B0.23400778
127UHMK10.22338469
128DYRK1B0.22055267
129AKT20.21738328
130EIF2AK20.21210394
131MAPK10.19649366

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030304.85025552
2Mismatch repair_Homo sapiens_hsa034303.88148818
3Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.42745758
4RNA transport_Homo sapiens_hsa030133.35773247
5Cell cycle_Homo sapiens_hsa041103.31276945
6Spliceosome_Homo sapiens_hsa030403.06966791
7Homologous recombination_Homo sapiens_hsa034402.98860797
8Base excision repair_Homo sapiens_hsa034102.87061584
9Nucleotide excision repair_Homo sapiens_hsa034202.69849196
10* Fanconi anemia pathway_Homo sapiens_hsa034602.40287128
11RNA polymerase_Homo sapiens_hsa030202.38793131
12Basal transcription factors_Homo sapiens_hsa030222.25646126
13Non-homologous end-joining_Homo sapiens_hsa034502.21581003
14One carbon pool by folate_Homo sapiens_hsa006702.17570148
15mRNA surveillance pathway_Homo sapiens_hsa030152.15879869
16Pyrimidine metabolism_Homo sapiens_hsa002402.05029741
17RNA degradation_Homo sapiens_hsa030182.01110001
18Ribosome_Homo sapiens_hsa030101.97689548
19Vitamin B6 metabolism_Homo sapiens_hsa007501.95962133
20p53 signaling pathway_Homo sapiens_hsa041151.85123305
21Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.79780657
22Proteasome_Homo sapiens_hsa030501.68474475
23Systemic lupus erythematosus_Homo sapiens_hsa053221.49953265
24Oocyte meiosis_Homo sapiens_hsa041141.33521029
25Antigen processing and presentation_Homo sapiens_hsa046121.33346941
26Protein export_Homo sapiens_hsa030601.28781691
27Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.27103216
28Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.26264730
29Herpes simplex infection_Homo sapiens_hsa051681.25593015
30Viral carcinogenesis_Homo sapiens_hsa052031.24591196
31Pentose phosphate pathway_Homo sapiens_hsa000301.21596306
32Epstein-Barr virus infection_Homo sapiens_hsa051691.17063121
33Purine metabolism_Homo sapiens_hsa002301.16274250
34Selenocompound metabolism_Homo sapiens_hsa004501.08471675
35Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.05899379
36HTLV-I infection_Homo sapiens_hsa051660.98781397
37Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.98154114
38Small cell lung cancer_Homo sapiens_hsa052220.97262265
39MicroRNAs in cancer_Homo sapiens_hsa052060.93938055
40Cysteine and methionine metabolism_Homo sapiens_hsa002700.82447708
41Primary immunodeficiency_Homo sapiens_hsa053400.81284959
42Thyroid cancer_Homo sapiens_hsa052160.79934749
43Pyruvate metabolism_Homo sapiens_hsa006200.77992326
44Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.76784579
45Transcriptional misregulation in cancer_Homo sapiens_hsa052020.74134846
46Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.73382997
47Chronic myeloid leukemia_Homo sapiens_hsa052200.71352506
48Propanoate metabolism_Homo sapiens_hsa006400.68780639
49Hepatitis B_Homo sapiens_hsa051610.68751294
50Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.68130198
51Measles_Homo sapiens_hsa051620.67147932
52Biosynthesis of amino acids_Homo sapiens_hsa012300.63726915
53Legionellosis_Homo sapiens_hsa051340.59605704
54Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.59191185
55Colorectal cancer_Homo sapiens_hsa052100.58964556
56mTOR signaling pathway_Homo sapiens_hsa041500.55993882
57Steroid biosynthesis_Homo sapiens_hsa001000.53229670
58TGF-beta signaling pathway_Homo sapiens_hsa043500.52343295
59NF-kappa B signaling pathway_Homo sapiens_hsa040640.51683442
60Apoptosis_Homo sapiens_hsa042100.50995927
61Alcoholism_Homo sapiens_hsa050340.48878220
62Non-small cell lung cancer_Homo sapiens_hsa052230.48230965
63Influenza A_Homo sapiens_hsa051640.47989423
64B cell receptor signaling pathway_Homo sapiens_hsa046620.47911758
65Pancreatic cancer_Homo sapiens_hsa052120.47743374
66Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.47523759
67Prostate cancer_Homo sapiens_hsa052150.47491038
68Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.46920450
69Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.44303983
70Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.44120905
71Viral myocarditis_Homo sapiens_hsa054160.43983283
72N-Glycan biosynthesis_Homo sapiens_hsa005100.43502193
73Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.43325800
74Regulation of autophagy_Homo sapiens_hsa041400.42792470
75Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.42018366
76Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.41006250
77Lysine degradation_Homo sapiens_hsa003100.40622811
78Drug metabolism - other enzymes_Homo sapiens_hsa009830.39599627
79Folate biosynthesis_Homo sapiens_hsa007900.39391849
80Central carbon metabolism in cancer_Homo sapiens_hsa052300.39351581
81Acute myeloid leukemia_Homo sapiens_hsa052210.39303991
82Wnt signaling pathway_Homo sapiens_hsa043100.39042065
832-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.38800527
84Huntingtons disease_Homo sapiens_hsa050160.38201668
85Melanoma_Homo sapiens_hsa052180.37577924
86Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.37513660
87Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.37170391
88Shigellosis_Homo sapiens_hsa051310.37096693
89Intestinal immune network for IgA production_Homo sapiens_hsa046720.36860935
90T cell receptor signaling pathway_Homo sapiens_hsa046600.34750575
91Hedgehog signaling pathway_Homo sapiens_hsa043400.34713423
92Hippo signaling pathway_Homo sapiens_hsa043900.34373453
93Hematopoietic cell lineage_Homo sapiens_hsa046400.33975757
94Sulfur relay system_Homo sapiens_hsa041220.32952780
95HIF-1 signaling pathway_Homo sapiens_hsa040660.32251564
96Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.31256394
97NOD-like receptor signaling pathway_Homo sapiens_hsa046210.31174543
98Jak-STAT signaling pathway_Homo sapiens_hsa046300.31166577
99Renin-angiotensin system_Homo sapiens_hsa046140.31064548
100Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.31012173
101Adherens junction_Homo sapiens_hsa045200.30857067
102Thyroid hormone signaling pathway_Homo sapiens_hsa049190.30805290
103FoxO signaling pathway_Homo sapiens_hsa040680.30792739
104Pathways in cancer_Homo sapiens_hsa052000.30792205
105Cyanoamino acid metabolism_Homo sapiens_hsa004600.30632772
106Fatty acid elongation_Homo sapiens_hsa000620.29649543
107Glutathione metabolism_Homo sapiens_hsa004800.28349933
108Notch signaling pathway_Homo sapiens_hsa043300.28089868
109Basal cell carcinoma_Homo sapiens_hsa052170.27307341
110Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.26859240
111Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.26739796
112Carbon metabolism_Homo sapiens_hsa012000.25683836
113Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.25541132
114Toxoplasmosis_Homo sapiens_hsa051450.25329019
115Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.24953824
116Bladder cancer_Homo sapiens_hsa052190.24702198
117Endometrial cancer_Homo sapiens_hsa052130.23288930
118Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.22977467
119Dorso-ventral axis formation_Homo sapiens_hsa043200.21744832
120VEGF signaling pathway_Homo sapiens_hsa043700.21548910
121Glucagon signaling pathway_Homo sapiens_hsa049220.20702592
122Glioma_Homo sapiens_hsa052140.20371986
123AMPK signaling pathway_Homo sapiens_hsa041520.19892727
124Parkinsons disease_Homo sapiens_hsa050120.17558824
125Metabolic pathways_Homo sapiens_hsa011000.17078774

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