UHRF1

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 a subfamily of RING-finger type E3 ubiquitin ligases. The protein binds to specific DNA sequences, and recruits a histone deacetylase to regulate gene expression. Its expression peaks at late G1 phase and continues during G2 and M phases of the cell cycle. It plays a major role in the G1/S transition by regulating topoisomerase IIalpha and retinoblastoma gene expression, and functions in the p53-dependent DNA damage checkpoint. It is regarded as a hub protein for the integration of epigenetic information. This gene is up-regulated in various cancers, and it is therefore considered to be a therapeutic target. Multiple transcript variants encoding different isoforms have been found for this gene. A related pseudogene exists on chromosome 12. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1DNA unwinding involved in DNA replication (GO:0006268)6.14958404
2DNA strand elongation involved in DNA replication (GO:0006271)5.52498529
3DNA replication initiation (GO:0006270)5.32432508
4DNA strand elongation (GO:0022616)5.24727063
5protein localization to kinetochore (GO:0034501)5.20628154
6telomere maintenance via semi-conservative replication (GO:0032201)4.96437307
7DNA replication-dependent nucleosome organization (GO:0034723)4.69505944
8DNA replication-dependent nucleosome assembly (GO:0006335)4.69505944
9DNA replication checkpoint (GO:0000076)4.56532173
10nuclear pore organization (GO:0006999)4.49979387
11telomere maintenance via recombination (GO:0000722)4.48363273
12nuclear pore complex assembly (GO:0051292)4.44598206
13mitotic recombination (GO:0006312)4.42275711
14protein localization to chromosome, centromeric region (GO:0071459)4.38273579
15V(D)J recombination (GO:0033151)4.34587756
16mitotic sister chromatid segregation (GO:0000070)4.28294327
17mitotic nuclear envelope disassembly (GO:0007077)4.27069855
18mitotic chromosome condensation (GO:0007076)4.25394240
19sister chromatid segregation (GO:0000819)4.12781708
20IMP biosynthetic process (GO:0006188)4.11725838
21folic acid-containing compound biosynthetic process (GO:0009396)4.07567941
22nucleotide-excision repair, DNA gap filling (GO:0006297)3.99993160
23DNA duplex unwinding (GO:0032508)3.96676117
24DNA geometric change (GO:0032392)3.95532322
25membrane disassembly (GO:0030397)3.95468818
26nuclear envelope disassembly (GO:0051081)3.95468818
27mitotic metaphase plate congression (GO:0007080)3.94554119
28telomere maintenance via telomere lengthening (GO:0010833)3.93860146
29regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)3.88778620
30nucleobase biosynthetic process (GO:0046112)3.85907128
31positive regulation of histone H3-K4 methylation (GO:0051571)3.84432775
32kinetochore organization (GO:0051383)3.81712350
33chromatin remodeling at centromere (GO:0031055)3.76587940
34CENP-A containing nucleosome assembly (GO:0034080)3.70409449
35DNA ligation (GO:0006266)3.65085854
36IMP metabolic process (GO:0046040)3.62818675
37DNA replication-independent nucleosome organization (GO:0034724)3.62759588
38DNA replication-independent nucleosome assembly (GO:0006336)3.62759588
39regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.61369094
40regulation of DNA methylation (GO:0044030)3.57506224
41mitotic sister chromatid cohesion (GO:0007064)3.57222449
42regulation of histone H3-K9 methylation (GO:0051570)3.55287165
43positive regulation of chromosome segregation (GO:0051984)3.55053391
44somatic hypermutation of immunoglobulin genes (GO:0016446)3.54302533
45somatic diversification of immune receptors via somatic mutation (GO:0002566)3.54302533
46metaphase plate congression (GO:0051310)3.53771019
47attachment of spindle microtubules to kinetochore (GO:0008608)3.49179967
48regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450913.46681111
49regulation of DNA endoreduplication (GO:0032875)3.46628972
50translesion synthesis (GO:0019985)3.46167232
51heterochromatin organization (GO:0070828)3.44009758
52pore complex assembly (GO:0046931)3.42240237
53positive regulation of DNA-dependent DNA replication (GO:2000105)3.41044844
54formation of translation preinitiation complex (GO:0001731)3.40941182
55chromatin assembly or disassembly (GO:0006333)3.40888077
56ribosomal small subunit assembly (GO:0000028)3.35846676
57DNA packaging (GO:0006323)3.34502715
58DNA conformation change (GO:0071103)3.34401349
59establishment of chromosome localization (GO:0051303)3.34163832
60meiotic chromosome segregation (GO:0045132)3.33515182
61mismatch repair (GO:0006298)3.31992797
62purine nucleobase biosynthetic process (GO:0009113)3.31015193
63regulation of female gonad development (GO:2000194)3.26929133
64dosage compensation (GO:0007549)3.26482806
65negative regulation of mRNA splicing, via spliceosome (GO:0048025)3.26290829
66regulation of sister chromatid cohesion (GO:0007063)3.25208069
67DNA synthesis involved in DNA repair (GO:0000731)3.24295322
68histone exchange (GO:0043486)3.24103560
69protein localization to chromosome (GO:0034502)3.22242672
70kinetochore assembly (GO:0051382)3.22061767
71chromatin assembly (GO:0031497)3.21465460
72telomere maintenance (GO:0000723)3.20950486
73regulation of centrosome cycle (GO:0046605)3.20748094
74postreplication repair (GO:0006301)3.20659455
75regulation of spindle organization (GO:0090224)3.20522507
76DNA biosynthetic process (GO:0071897)3.19910848
77telomere organization (GO:0032200)3.19419452
78maturation of SSU-rRNA (GO:0030490)3.19141323
79DNA replication (GO:0006260)3.18908781
80negative regulation of histone methylation (GO:0031061)3.18111861
81regulation of chromosome segregation (GO:0051983)3.17915123
82somatic cell DNA recombination (GO:0016444)3.17820012
83somatic diversification of immune receptors via germline recombination within a single locus (GO:0003.17820012
84regulation of DNA-dependent DNA replication (GO:0090329)3.17671684
85non-recombinational repair (GO:0000726)3.15727411
86double-strand break repair via nonhomologous end joining (GO:0006303)3.15727411
87regulation of double-strand break repair via homologous recombination (GO:0010569)3.12701382
88mitotic cell cycle (GO:0000278)3.12628542
89ATP-dependent chromatin remodeling (GO:0043044)3.11453382
90base-excision repair (GO:0006284)3.11247677
91transcription-coupled nucleotide-excision repair (GO:0006283)3.10443110
92DNA topological change (GO:0006265)3.09595339
93establishment of integrated proviral latency (GO:0075713)3.08442886
94chromosome segregation (GO:0007059)3.08166565
95maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)3.06904545
96chromosome condensation (GO:0030261)3.06441770
97replication fork processing (GO:0031297)3.05868393
98nuclear envelope organization (GO:0006998)3.05010523
99negative regulation of RNA splicing (GO:0033119)3.05008285
100negative regulation of chromosome segregation (GO:0051985)3.03704006
101sister chromatid cohesion (GO:0007062)3.02818977
102protein K6-linked ubiquitination (GO:0085020)3.02045270
103microtubule cytoskeleton organization involved in mitosis (GO:1902850)3.01973660
104positive regulation of mitotic metaphase/anaphase transition (GO:0045842)3.01004943
105positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)3.01004943
106positive regulation of mitotic sister chromatid separation (GO:1901970)3.01004943
107spindle checkpoint (GO:0031577)2.99938082
108regulation of spindle checkpoint (GO:0090231)2.99285693
109regulation of mitotic metaphase/anaphase transition (GO:0030071)2.97932252
110pre-miRNA processing (GO:0031054)2.96250546
111regulation of mitotic sister chromatid segregation (GO:0033047)2.96016199
112regulation of sister chromatid segregation (GO:0033045)2.96016199
113regulation of mitotic sister chromatid separation (GO:0010965)2.96016199
114regulation of double-strand break repair (GO:2000779)2.95865131
115regulation of posttranscriptional gene silencing (GO:0060147)2.95849956
116regulation of gene silencing by miRNA (GO:0060964)2.95849956
117regulation of gene silencing by RNA (GO:0060966)2.95849956
118negative regulation of mitotic sister chromatid separation (GO:2000816)2.95835377
119negative regulation of mitotic sister chromatid segregation (GO:0033048)2.95835377
120negative regulation of mitotic metaphase/anaphase transition (GO:0045841)2.95835377
121negative regulation of sister chromatid segregation (GO:0033046)2.95835377
122regulation of centriole replication (GO:0046599)2.95391116
123spindle assembly checkpoint (GO:0071173)2.93506267
124chromosome organization (GO:0051276)2.92294735
125regulation of metaphase/anaphase transition of cell cycle (GO:1902099)2.92143582
126regulation of helicase activity (GO:0051095)2.91599028
127negative regulation of mRNA processing (GO:0050686)2.91100133

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXM1_23109430_ChIP-Seq_U2OS_Human5.14007549
2E2F4_17652178_ChIP-ChIP_JURKAT_Human4.28670040
3* MYC_18555785_ChIP-Seq_MESCs_Mouse3.75844235
4* FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human3.45946771
5EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.34128426
6MYC_19079543_ChIP-ChIP_MESCs_Mouse2.80917762
7* MYC_19030024_ChIP-ChIP_MESCs_Mouse2.56744816
8EGR1_19374776_ChIP-ChIP_THP-1_Human2.55130448
9* MYC_18358816_ChIP-ChIP_MESCs_Mouse2.36167613
10AR_21909140_ChIP-Seq_LNCAP_Human2.34166746
11E2F1_21310950_ChIP-Seq_MCF-7_Human2.33766201
12NELFA_20434984_ChIP-Seq_ESCs_Mouse2.19440510
13EST1_17652178_ChIP-ChIP_JURKAT_Human2.18803635
14KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.12767197
15MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.11461816
16MYC_22102868_ChIP-Seq_BL_Human2.11172648
17XRN2_22483619_ChIP-Seq_HELA_Human2.07251191
18MYBL2_22936984_ChIP-ChIP_MESCs_Mouse2.00928956
19E2F7_22180533_ChIP-Seq_HELA_Human11.5569063
20KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.99861055
21CREB1_15753290_ChIP-ChIP_HEK293T_Human1.93528232
22ETS1_20019798_ChIP-Seq_JURKAT_Human1.93375028
23HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.88064922
24CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.87172139
25MYCN_18555785_ChIP-Seq_MESCs_Mouse1.76706863
26NANOG_18555785_ChIP-Seq_MESCs_Mouse1.76261533
27JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.73744540
28GABP_17652178_ChIP-ChIP_JURKAT_Human1.72116593
29POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.68749473
30VDR_23849224_ChIP-Seq_CD4+_Human1.66810668
31CIITA_25753668_ChIP-Seq_RAJI_Human1.66259352
32SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.65623859
33* E2F1_18555785_ChIP-Seq_MESCs_Mouse1.61916271
34FOXP3_21729870_ChIP-Seq_TREG_Human1.60807599
35TTF2_22483619_ChIP-Seq_HELA_Human1.57779867
36TP63_19390658_ChIP-ChIP_HaCaT_Human1.51250096
37DCP1A_22483619_ChIP-Seq_HELA_Human1.49811858
38POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.46829444
39GABP_19822575_ChIP-Seq_HepG2_Human1.43802403
40MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.43348055
41ELF1_17652178_ChIP-ChIP_JURKAT_Human1.42692192
42PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.40931927
43THAP11_20581084_ChIP-Seq_MESCs_Mouse1.40235443
44NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.39588755
45SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.39491412
46YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.38759354
47ZFX_18555785_ChIP-Seq_MESCs_Mouse1.38567717
48TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.37958350
49KDM5A_27292631_Chip-Seq_BREAST_Human1.35489363
50* CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.34671333
51SOX2_18555785_ChIP-Seq_MESCs_Mouse1.32963635
52* VDR_21846776_ChIP-Seq_THP-1_Human1.29899172
53STAT3_1855785_ChIP-Seq_MESCs_Mouse1.27798778
54ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.27438710
55ELK1_19687146_ChIP-ChIP_HELA_Human1.26283657
56POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.23583572
57ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.21194317
58HOXB4_20404135_ChIP-ChIP_EML_Mouse1.20741061
59SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.17528167
60* KLF4_18555785_ChIP-Seq_MESCs_Mouse1.17227260
61NOTCH1_21737748_ChIP-Seq_TLL_Human1.14817621
62E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.14761835
63FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.14319571
64PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.14199986
65ESR1_15608294_ChIP-ChIP_MCF-7_Human1.10977621
66YY1_21170310_ChIP-Seq_MESCs_Mouse1.10139403
67* KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.09633232
68SALL1_21062744_ChIP-ChIP_HESCs_Human1.09612136
69FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.09507963
70DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.09031565
71ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.06170472
72* KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.04344636
73HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.03764236
74TFEB_21752829_ChIP-Seq_HELA_Human1.03658625
75NANOG_21062744_ChIP-ChIP_HESCs_Human1.03611557
76* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.03303584
77BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.03064518
78TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.02932432
79ERG_20887958_ChIP-Seq_HPC-7_Mouse1.01695673
80CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.01149739
81PADI4_21655091_ChIP-ChIP_MCF-7_Human1.00511901
82NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.97273293
83* TCF3_18692474_ChIP-Seq_MEFs_Mouse0.96354232
84SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.95393633
85PKCTHETA_26484144_Chip-Seq_BREAST_Human0.93908459
86PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.92925128
87RBPJ_22232070_ChIP-Seq_NCS_Mouse0.92503791
88CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.92236929
89* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.91966289
90DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.90202227
91TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.90187525
92NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.90040266
93HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.89567214
94MYC_18940864_ChIP-ChIP_HL60_Human0.84961294
95KLF2_18264089_ChIP-ChIP_MESCs_Mouse0.84739856
96KLF5_18264089_ChIP-ChIP_MESCs_Mouse0.84739856
97KLF4_18264089_ChIP-ChIP_MESCs_Mouse0.84739856
98* CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.83932276
99EZH2_22144423_ChIP-Seq_EOC_Human0.82439207
100SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.82210431
101FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.81425336
102* TCF3_18692474_ChIP-Seq_MESCs_Mouse0.79880238
103NACC1_18358816_ChIP-ChIP_MESCs_Mouse0.79360716
104E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.78652194
105HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.77614204
106GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.77093372
107BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.75477390
108ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.75337615
109OCT4_18692474_ChIP-Seq_MEFs_Mouse0.74833072
110SOX17_20123909_ChIP-Seq_XEN_Mouse0.71956969
111HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.69502798
112SRF_21415370_ChIP-Seq_HL-1_Mouse0.69187172
113CHD1_26751641_Chip-Seq_LNCaP_Human0.68507490
114TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.67828745

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0010094_abnormal_chromosome_stability5.10593094
2MP0003693_abnormal_embryo_hatching4.55950903
3MP0003111_abnormal_nucleus_morphology4.49867766
4MP0008057_abnormal_DNA_replication4.37662684
5MP0004957_abnormal_blastocyst_morpholog4.05509646
6MP0003077_abnormal_cell_cycle3.95543778
7MP0008058_abnormal_DNA_repair2.98088556
8MP0010352_gastrointestinal_tract_polyps2.72742033
9MP0008007_abnormal_cellular_replicative2.67092415
10MP0003123_paternal_imprinting2.57758529
11MP0008932_abnormal_embryonic_tissue2.54359283
12MP0000350_abnormal_cell_proliferation2.41318001
13* MP0001730_embryonic_growth_arrest2.37010571
14MP0009697_abnormal_copulation2.26448044
15MP0002396_abnormal_hematopoietic_system2.25948095
16MP0010307_abnormal_tumor_latency2.21540603
17MP0005076_abnormal_cell_differentiation1.95670608
18MP0008789_abnormal_olfactory_epithelium1.87148604
19* MP0005380_embryogenesis_phenotype1.85446819
20* MP0001672_abnormal_embryogenesis/_devel1.85446819
21MP0003121_genomic_imprinting1.81147501
22MP0001697_abnormal_embryo_size1.80788170
23MP0000490_abnormal_crypts_of1.74207568
24* MP0002085_abnormal_embryonic_tissue1.72931179
25MP0004197_abnormal_fetal_growth/weight/1.69096180
26* MP0003984_embryonic_growth_retardation1.65052028
27MP0004808_abnormal_hematopoietic_stem1.63656410
28* MP0002084_abnormal_developmental_patter1.62687916
29* MP0002080_prenatal_lethality1.62352534
30* MP0002088_abnormal_embryonic_growth/wei1.61884353
31MP0003786_premature_aging1.60353941
32MP0010030_abnormal_orbit_morphology1.59157688
33MP0005394_taste/olfaction_phenotype1.53500602
34MP0005499_abnormal_olfactory_system1.53500602
35* MP0002086_abnormal_extraembryonic_tissu1.53457333
36MP0002234_abnormal_pharynx_morphology1.49503377
37MP0002019_abnormal_tumor_incidence1.48507915
38MP0000313_abnormal_cell_death1.43382875
39MP0003705_abnormal_hypodermis_morpholog1.39693434
40MP0003890_abnormal_embryonic-extraembry1.38873199
41MP0003567_abnormal_fetal_cardiomyocyte1.35640105
42MP0000537_abnormal_urethra_morphology1.28776327
43MP0009278_abnormal_bone_marrow1.28718518
44MP0001293_anophthalmia1.23973087
45MP0000703_abnormal_thymus_morphology1.23610766
46MP0009053_abnormal_anal_canal1.21310617
47MP0004185_abnormal_adipocyte_glucose1.19392322
48MP0006054_spinal_hemorrhage1.17998411
49MP0002210_abnormal_sex_determination1.16640812
50MP0005397_hematopoietic_system_phenotyp1.15444773
51MP0001545_abnormal_hematopoietic_system1.15444773
52MP0000566_synostosis1.15288188
53* MP0008877_abnormal_DNA_methylation1.12994278
54MP0003950_abnormal_plasma_membrane1.11903652
55MP0005395_other_phenotype1.11000822
56MP0003763_abnormal_thymus_physiology1.07832396
57MP0002398_abnormal_bone_marrow1.04491873
58MP0010234_abnormal_vibrissa_follicle1.04282762
59MP0003315_abnormal_perineum_morphology1.04167681
60MP0003119_abnormal_digestive_system1.03858659
61MP0001145_abnormal_male_reproductive1.01511154
62MP0001915_intracranial_hemorrhage1.01267903
63MP0003718_maternal_effect0.98732080
64MP0002722_abnormal_immune_system0.98685061
65MP0003566_abnormal_cell_adhesion0.98241904
66MP0001346_abnormal_lacrimal_gland0.97545306
67MP0002653_abnormal_ependyma_morphology0.97202434
68MP0009333_abnormal_splenocyte_physiolog0.97201789
69MP0001849_ear_inflammation0.95710224
70MP0003937_abnormal_limbs/digits/tail_de0.94231713
71MP0009672_abnormal_birth_weight0.93279111
72MP0000762_abnormal_tongue_morphology0.93207249
73MP0001929_abnormal_gametogenesis0.91984448
74MP0002111_abnormal_tail_morphology0.91967145
75MP0005023_abnormal_wound_healing0.91704244
76MP0000689_abnormal_spleen_morphology0.91438705
77MP0002161_abnormal_fertility/fecundity0.90964781
78MP0002009_preneoplasia0.90378197
79MP0000653_abnormal_sex_gland0.86678414
80MP0002233_abnormal_nose_morphology0.84752956
81MP0009703_decreased_birth_body0.84639858
82MP0001119_abnormal_female_reproductive0.81213697
83MP0003806_abnormal_nucleotide_metabolis0.81201997
84MP0005384_cellular_phenotype0.79378584
85MP0000858_altered_metastatic_potential0.78850359
86MP0002092_abnormal_eye_morphology0.78782749
87MP0005621_abnormal_cell_physiology0.77982804
88MP0004133_heterotaxia0.77609561
89MP0000428_abnormal_craniofacial_morphol0.77532332
90MP0002429_abnormal_blood_cell0.76535773
91MP0003943_abnormal_hepatobiliary_system0.74670894
92MP0002160_abnormal_reproductive_system0.74055793
93MP0004264_abnormal_extraembryonic_tissu0.73428758
94MP0000477_abnormal_intestine_morphology0.70769541
95MP0001286_abnormal_eye_development0.70431376
96MP0003115_abnormal_respiratory_system0.69892605
97MP0000432_abnormal_head_morphology0.69672525
98MP0002697_abnormal_eye_size0.68647996
99MP0002075_abnormal_coat/hair_pigmentati0.68637844
100MP0003755_abnormal_palate_morphology0.68127316
101MP0000733_abnormal_muscle_development0.67637730
102MP0002925_abnormal_cardiovascular_devel0.67324527
103MP0000049_abnormal_middle_ear0.66752932
104MP0006292_abnormal_olfactory_placode0.65967526
105MP0003698_abnormal_male_reproductive0.64551035
106MP0003941_abnormal_skin_development0.63401945
107MP0003385_abnormal_body_wall0.63299182
108MP0009379_abnormal_foot_pigmentation0.61974358
109MP0000716_abnormal_immune_system0.61256818
110MP0000358_abnormal_cell_content/0.60673769
111MP0008770_decreased_survivor_rate0.60156826
112MP0002163_abnormal_gland_morphology0.59973475
113MP0002006_tumorigenesis0.59902183
114MP0005389_reproductive_system_phenotype0.58840432
115* MP0003861_abnormal_nervous_system0.58439339
116MP0002932_abnormal_joint_morphology0.57288608
117MP0005501_abnormal_skin_physiology0.56656111
118* MP0003935_abnormal_craniofacial_develop0.55938842
119MP0004233_abnormal_muscle_weight0.55886649
120MP0003699_abnormal_female_reproductive0.53003023
121MP0002114_abnormal_axial_skeleton0.52942438
122MP0003448_altered_tumor_morphology0.52866214
123MP0003787_abnormal_imprinting0.52831479
124MP0002751_abnormal_autonomic_nervous0.52144492
125MP0002970_abnormal_white_adipose0.52089508
126MP0009250_abnormal_appendicular_skeleto0.51777946
127MP0002877_abnormal_melanocyte_morpholog0.51732431
128MP0002249_abnormal_larynx_morphology0.51361766

Predicted human phenotypes

RankGene SetZ-score
1Birth length less than 3rd percentile (HP:0003561)4.28046128
2Chromsome breakage (HP:0040012)4.27136490
3Chromosomal breakage induced by crosslinking agents (HP:0003221)4.10889553
4Ependymoma (HP:0002888)3.82842918
5Medulloblastoma (HP:0002885)3.63324800
6Reticulocytopenia (HP:0001896)3.56965941
7Selective tooth agenesis (HP:0001592)3.56239798
8B lymphocytopenia (HP:0010976)3.50566334
9Acute lymphatic leukemia (HP:0006721)3.33417291
10Abnormality of chromosome stability (HP:0003220)3.32638210
11Patellar aplasia (HP:0006443)3.28120194
12Colon cancer (HP:0003003)3.20514905
13Breast hypoplasia (HP:0003187)3.16005852
14Meckel diverticulum (HP:0002245)3.13724268
15Aplasia/Hypoplasia of the patella (HP:0006498)3.04528729
16Abnormality of the ileum (HP:0001549)3.02925530
17Aplasia/Hypoplasia of the uvula (HP:0010293)2.99447142
18Rhabdomyosarcoma (HP:0002859)2.95762547
19Agnosia (HP:0010524)2.93224911
20Abnormality of the preputium (HP:0100587)2.85459798
21Increased nuchal translucency (HP:0010880)2.83542269
22Abnormal number of incisors (HP:0011064)2.82139289
23Ectopic kidney (HP:0000086)2.77891611
24Combined immunodeficiency (HP:0005387)2.74583147
25Abnormality of B cell number (HP:0010975)2.72439346
26Duodenal stenosis (HP:0100867)2.70581660
27Small intestinal stenosis (HP:0012848)2.70581660
28Impulsivity (HP:0100710)2.69672137
29Abnormality of chromosome segregation (HP:0002916)2.67486804
30Short 4th metacarpal (HP:0010044)2.66724347
31Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.66724347
32Absent thumb (HP:0009777)2.62967480
33Abnormality of the astrocytes (HP:0100707)2.61625565
34Astrocytoma (HP:0009592)2.61625565
35Absent radius (HP:0003974)2.60762198
36Abnormality of the labia minora (HP:0012880)2.60504945
37Myelodysplasia (HP:0002863)2.60144374
38Oral leukoplakia (HP:0002745)2.57289894
39Deviation of the thumb (HP:0009603)2.50620925
40Abnormality of cells of the erythroid lineage (HP:0012130)2.50188722
41Abnormality of the anterior horn cell (HP:0006802)2.50187499
42Degeneration of anterior horn cells (HP:0002398)2.50187499
43Proximal placement of thumb (HP:0009623)2.50154587
44Basal cell carcinoma (HP:0002671)2.49036894
45Volvulus (HP:0002580)2.47427482
46Multiple enchondromatosis (HP:0005701)2.43332668
47High pitched voice (HP:0001620)2.43147389
48Aplasia involving forearm bones (HP:0009822)2.43111113
49Absent forearm bone (HP:0003953)2.43111113
50Severe combined immunodeficiency (HP:0004430)2.42317523
51Neoplasm of striated muscle (HP:0009728)2.41122890
52Abnormality of the phalanges of the hallux (HP:0010057)2.39743013
53Abnormal number of erythroid precursors (HP:0012131)2.38787751
5411 pairs of ribs (HP:0000878)2.37614916
55Abnormal lung lobation (HP:0002101)2.37279302
56Abnormality of the carotid arteries (HP:0005344)2.33241246
57Atresia of the external auditory canal (HP:0000413)2.31799865
58Cafe-au-lait spot (HP:0000957)2.30091309
59Capillary hemangiomas (HP:0005306)2.29309645
60Duplicated collecting system (HP:0000081)2.27326416
61Sloping forehead (HP:0000340)2.26876746
62Glioma (HP:0009733)2.26241291
63Neoplasm of the pancreas (HP:0002894)2.26023783
64Neoplasm of the oral cavity (HP:0100649)2.25845073
65Microvesicular hepatic steatosis (HP:0001414)2.25083110
66Urethral obstruction (HP:0000796)2.24647875
67Missing ribs (HP:0000921)2.24640312
68Abnormality of the duodenum (HP:0002246)2.24604067
69High anterior hairline (HP:0009890)2.24478636
70Carpal bone hypoplasia (HP:0001498)2.23381090
71Tracheoesophageal fistula (HP:0002575)2.21750464
72Duplication of thumb phalanx (HP:0009942)2.18502315
73Bone marrow hypocellularity (HP:0005528)2.17404219
74Arteriovenous malformation (HP:0100026)2.17039772
75Abnormality of cochlea (HP:0000375)2.16662662
76Aplasia/Hypoplasia of the sacrum (HP:0008517)2.16535383
77Aplasia/Hypoplasia of the sternum (HP:0006714)2.15237920
78Choanal atresia (HP:0000453)2.13830983
79Nephroblastoma (Wilms tumor) (HP:0002667)2.09665570
80Aplastic anemia (HP:0001915)2.08749409
81Short thumb (HP:0009778)2.06934920
82Supernumerary spleens (HP:0009799)2.05824739
83Squamous cell carcinoma (HP:0002860)2.01162197
84Premature graying of hair (HP:0002216)1.99761010
85Amaurosis fugax (HP:0100576)1.99685493
86Facial hemangioma (HP:0000329)1.99524961
87Prominent nose (HP:0000448)1.98788423
88Hypoplasia of the capital femoral epiphysis (HP:0003090)1.98724460
89Renal duplication (HP:0000075)1.98055482
90Rib fusion (HP:0000902)1.96803861
91Microglossia (HP:0000171)1.96150281
92Abnormality of the renal collecting system (HP:0004742)1.93891410
93Embryonal renal neoplasm (HP:0011794)1.92447438
94Premature ovarian failure (HP:0008209)1.92444641
95Progressive muscle weakness (HP:0003323)1.90348867
96Poikiloderma (HP:0001029)1.90042059
97Cellular immunodeficiency (HP:0005374)1.89633839
98Clubbing of toes (HP:0100760)1.88090123
99Abdominal situs inversus (HP:0003363)1.87904342
100Abnormality of abdominal situs (HP:0011620)1.87904342
101Triphalangeal thumb (HP:0001199)1.87836526
102Heterotopia (HP:0002282)1.85487807
103Abnormality of the calcaneus (HP:0008364)1.85360635
104Slender long bone (HP:0003100)1.84900410
105Horseshoe kidney (HP:0000085)1.84677729
106Hypergonadotropic hypogonadism (HP:0000815)1.84596257
107Rough bone trabeculation (HP:0100670)1.84373625
108Abnormality of the 4th metacarpal (HP:0010012)1.82936565
109Oligodactyly (HP:0012165)1.82672243
110Biliary tract neoplasm (HP:0100574)1.82546375
111Acute myeloid leukemia (HP:0004808)1.82422972
112Long eyelashes (HP:0000527)1.82259849
113Aplasia/hypoplasia of the humerus (HP:0006507)1.81442357
114Embryonal neoplasm (HP:0002898)1.81383269
115Lymphoma (HP:0002665)1.81097151
116Aplasia/Hypoplasia of the thymus (HP:0010515)1.80607424
117Ovarian neoplasm (HP:0100615)1.79747702
118Abnormality of the fingertips (HP:0001211)1.79057802
119Abnormal gallbladder physiology (HP:0012438)1.78517516
120Cholecystitis (HP:0001082)1.78517516
121Overlapping toe (HP:0001845)1.78184569
122Overriding aorta (HP:0002623)1.78044576
123Hypoplasia of the thymus (HP:0000778)1.78043156
124Hyperacusis (HP:0010780)1.77687688
125Cleft eyelid (HP:0000625)1.77375690
126Malignant gastrointestinal tract tumors (HP:0006749)1.76870688
127Gastrointestinal carcinoma (HP:0002672)1.76870688
128Neoplasm of the colon (HP:0100273)1.76320419
129Elfin facies (HP:0004428)1.76126196
130Pallor (HP:0000980)1.75285155
131Skull defect (HP:0001362)1.74422970
132Cutaneous melanoma (HP:0012056)1.73521602
133Abnormality of DNA repair (HP:0003254)1.70470936
134Insomnia (HP:0100785)1.69469212
135Abnormality of pyrimidine metabolism (HP:0004353)1.69078473
136Abnormality of the septum pellucidum (HP:0007375)1.68998001
137Abnormal foot bone ossification (HP:0010675)1.68252522
138Sandal gap (HP:0001852)1.68168693
139Facial cleft (HP:0002006)1.65307846
140Secondary amenorrhea (HP:0000869)1.65219150
141Deep philtrum (HP:0002002)1.65091655
142Stillbirth (HP:0003826)1.64261469
143Renovascular hypertension (HP:0100817)1.63903012

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CDC75.39093166
2WEE13.82294192
3BUB13.18744866
4EEF2K3.16242431
5VRK23.10889746
6NEK23.02701774
7SMG12.94425256
8CDK122.85431651
9TTK2.72335243
10NEK12.38822213
11MAP3K102.28729729
12SRPK12.10803047
13PASK2.10498516
14RPS6KB22.08315288
15TSSK62.07940069
16EIF2AK12.04708996
17PLK11.97976326
18ATR1.94431467
19TAF11.88118998
20CDK71.87702319
21STK101.77063453
22CDK41.74085515
23MKNK11.73290941
24TLK11.72140852
25AURKB1.69734616
26BRSK21.69348553
27PBK1.66691574
28ACVR1B1.61334457
29PLK41.59501002
30CHEK21.59020168
31MAP3K81.58061119
32MAP3K91.52545876
33ARAF1.52537889
34TESK21.46894926
35PLK31.45899618
36CHEK11.44853710
37STK41.43237353
38VRK11.42977822
39PKN21.42424015
40SCYL21.42111994
41BRSK11.29451459
42MAP3K131.24705498
43TGFBR11.21737891
44PAK41.18312946
45MET1.16164190
46MKNK21.13557047
47AURKA1.12801594
48RPS6KA41.08994814
49BRD41.08992829
50PIM11.08755772
51CLK11.08469008
52ATM1.07826469
53DYRK31.05440448
54EIF2AK31.04813168
55CDK61.00846907
56* CDK21.00726645
57NME20.97215668
58EPHA20.94044164
59ALK0.91952135
60MAP4K10.91835886
61LRRK20.89866136
62MELK0.88303198
63ZAK0.85009017
64CCNB10.83642278
65STK30.82640963
66NUAK10.82041144
67NEK90.77837821
68CDK10.77658476
69TRIB30.76166201
70IRAK30.75528255
71FLT30.75145100
72MOS0.67866219
73MTOR0.67864764
74RAF10.67732661
75GRK60.67504241
76TRIM280.66049788
77CDK80.65825144
78PNCK0.62376276
79TESK10.59590872
80PAK10.59256880
81CSNK2A20.58176173
82MAPKAPK30.57318773
83CSNK2A10.53028496
84MAP2K30.52418599
85CDK150.49971002
86CDK11A0.49945824
87DAPK10.49083827
88KDR0.49072256
89MST1R0.47678967
90CDK180.47293926
91AKT20.46419896
92ICK0.46299007
93PRKDC0.43959028
94CDK140.42702485
95PAK20.41525542
96CDK90.39356848
97TTN0.39162130
98MAPKAPK50.38908908
99CSNK1G30.38674445
100BTK0.38604583
101MAPK140.38185727
102CSF1R0.37132726
103STK240.36038951
104CSNK1G10.35911956
105RPS6KA50.35869155
106LATS10.35134074
107MAPK110.34568961
108CAMK1D0.34098823
109PRKCI0.34050070
110AKT10.33554061
111CSNK1A1L0.33308299
112CSNK1E0.32700705
113ERBB40.31896429
114MST40.31393323
115EIF2AK20.31151163
116NEK60.31039795
117* CSNK1D0.30918187
118CDK30.30854548
119LATS20.30022501
120BRAF0.28902776
121YES10.28358776
122RPS6KA10.26113459
123BMX0.26046588
124FGFR10.25949510
125PTK60.25638468
126ILK0.25561147
127MAPK10.25135690
128RPS6KL10.24413809
129RPS6KC10.24413809
130GSK3B0.23092536
131RPS6KB10.22777632
132MAPKAPK20.22752772

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030305.72238324
2Mismatch repair_Homo sapiens_hsa034304.84487729
3Base excision repair_Homo sapiens_hsa034103.41594528
4Homologous recombination_Homo sapiens_hsa034403.22462885
5Cell cycle_Homo sapiens_hsa041103.18775933
6Spliceosome_Homo sapiens_hsa030403.17007830
7One carbon pool by folate_Homo sapiens_hsa006703.04544508
8Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.01590478
9RNA transport_Homo sapiens_hsa030132.96788580
10Nucleotide excision repair_Homo sapiens_hsa034202.94971800
11Fanconi anemia pathway_Homo sapiens_hsa034602.43389385
12Non-homologous end-joining_Homo sapiens_hsa034502.42522390
13Ribosome_Homo sapiens_hsa030102.36439579
14Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.29927891
15RNA polymerase_Homo sapiens_hsa030202.05732886
16Pyrimidine metabolism_Homo sapiens_hsa002402.02262025
17mRNA surveillance pathway_Homo sapiens_hsa030151.94165251
18Proteasome_Homo sapiens_hsa030501.86066389
19RNA degradation_Homo sapiens_hsa030181.84857381
20p53 signaling pathway_Homo sapiens_hsa041151.68782248
21Systemic lupus erythematosus_Homo sapiens_hsa053221.61311179
22Basal transcription factors_Homo sapiens_hsa030221.51507703
23Viral carcinogenesis_Homo sapiens_hsa052031.25545965
24Epstein-Barr virus infection_Homo sapiens_hsa051691.07894072
25MicroRNAs in cancer_Homo sapiens_hsa052061.05125001
26Oocyte meiosis_Homo sapiens_hsa041141.04606059
27Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.02740497
28Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.02332289
29HTLV-I infection_Homo sapiens_hsa051661.00800318
30Herpes simplex infection_Homo sapiens_hsa051680.97435532
31Purine metabolism_Homo sapiens_hsa002300.95913207
32Sulfur relay system_Homo sapiens_hsa041220.94410576
33Antigen processing and presentation_Homo sapiens_hsa046120.93356979
34Biosynthesis of amino acids_Homo sapiens_hsa012300.88710206
35Small cell lung cancer_Homo sapiens_hsa052220.86778362
36Cyanoamino acid metabolism_Homo sapiens_hsa004600.86662642
37Basal cell carcinoma_Homo sapiens_hsa052170.76642146
38Transcriptional misregulation in cancer_Homo sapiens_hsa052020.76448677
39Thyroid cancer_Homo sapiens_hsa052160.75825707
40Primary immunodeficiency_Homo sapiens_hsa053400.75327891
41Selenocompound metabolism_Homo sapiens_hsa004500.75255588
42Chronic myeloid leukemia_Homo sapiens_hsa052200.74633818
43Pentose phosphate pathway_Homo sapiens_hsa000300.73042449
44Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.70317852
45Colorectal cancer_Homo sapiens_hsa052100.70190697
46Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.68858967
47Notch signaling pathway_Homo sapiens_hsa043300.68074034
48Alcoholism_Homo sapiens_hsa050340.66476456
49Hippo signaling pathway_Homo sapiens_hsa043900.64671070
50Cysteine and methionine metabolism_Homo sapiens_hsa002700.64163949
51Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.61999197
52Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.56346473
53Apoptosis_Homo sapiens_hsa042100.56014741
54Hepatitis B_Homo sapiens_hsa051610.55801891
55TGF-beta signaling pathway_Homo sapiens_hsa043500.55000195
56Legionellosis_Homo sapiens_hsa051340.54621740
57Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.53209470
58Bladder cancer_Homo sapiens_hsa052190.52289571
59Vitamin B6 metabolism_Homo sapiens_hsa007500.51500218
60Adherens junction_Homo sapiens_hsa045200.50552944
61Central carbon metabolism in cancer_Homo sapiens_hsa052300.49102355
62Glioma_Homo sapiens_hsa052140.48774438
63Lysine degradation_Homo sapiens_hsa003100.48365047
64Viral myocarditis_Homo sapiens_hsa054160.47703423
65Non-small cell lung cancer_Homo sapiens_hsa052230.46886552
66Drug metabolism - other enzymes_Homo sapiens_hsa009830.45931367
67Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.45752539
68Measles_Homo sapiens_hsa051620.44093097
69Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.43512121
70Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.41906597
71Pancreatic cancer_Homo sapiens_hsa052120.41327375
72Pathways in cancer_Homo sapiens_hsa052000.40860191
73Shigellosis_Homo sapiens_hsa051310.40527401
74Hedgehog signaling pathway_Homo sapiens_hsa043400.40308926
75Prostate cancer_Homo sapiens_hsa052150.40062964
76HIF-1 signaling pathway_Homo sapiens_hsa040660.38844722
77mTOR signaling pathway_Homo sapiens_hsa041500.37646853
78NF-kappa B signaling pathway_Homo sapiens_hsa040640.37405715
79Carbon metabolism_Homo sapiens_hsa012000.37031650
80Pyruvate metabolism_Homo sapiens_hsa006200.36761993
81Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.36581411
82Acute myeloid leukemia_Homo sapiens_hsa052210.35879591
83Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.35647661
842-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.34794936
85Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.32749925
86Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.32456363
87Fatty acid elongation_Homo sapiens_hsa000620.32088815
88Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.31147438
89N-Glycan biosynthesis_Homo sapiens_hsa005100.31024600
90Influenza A_Homo sapiens_hsa051640.30777003
91Proteoglycans in cancer_Homo sapiens_hsa052050.29042181
92Folate biosynthesis_Homo sapiens_hsa007900.28879785
93Glutathione metabolism_Homo sapiens_hsa004800.27897852
94Huntingtons disease_Homo sapiens_hsa050160.26763797
95Endometrial cancer_Homo sapiens_hsa052130.25918456
96Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.25761174
97Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.25183126
98Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.24335886
99Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.24262036
100B cell receptor signaling pathway_Homo sapiens_hsa046620.24135249
101Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.23604852
102Melanoma_Homo sapiens_hsa052180.22829646
103Wnt signaling pathway_Homo sapiens_hsa043100.22817540
104Thyroid hormone signaling pathway_Homo sapiens_hsa049190.22710453
105Leukocyte transendothelial migration_Homo sapiens_hsa046700.22146948
106Hematopoietic cell lineage_Homo sapiens_hsa046400.19781137
107Protein export_Homo sapiens_hsa030600.19749411
108Fructose and mannose metabolism_Homo sapiens_hsa000510.19688454
109Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.19182859
110Longevity regulating pathway - mammal_Homo sapiens_hsa042110.18232766
111Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.17314347
112Tight junction_Homo sapiens_hsa045300.15447784
113Gap junction_Homo sapiens_hsa045400.15340369
114FoxO signaling pathway_Homo sapiens_hsa040680.15110381
115NOD-like receptor signaling pathway_Homo sapiens_hsa046210.15096802
116PI3K-Akt signaling pathway_Homo sapiens_hsa041510.13753888
117Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.13034814
118Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.12800707
119Galactose metabolism_Homo sapiens_hsa000520.12768314
120T cell receptor signaling pathway_Homo sapiens_hsa046600.10590618

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