DNMT1

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 an enzyme that transfers methyl groups to cytosine nucleotides of genomic DNA. This protein is the major enzyme responsible for maintaining methylation patterns following DNA replication and shows a preference for hemi-methylated DNA. Methylation of DNA is an important component of mammalian epigenetic gene regulation. Aberrant methylation patterns are found in human tumors and associated with developmental abnormalities. Variation in this gene has been associated with cerebellar ataxia, deafness, and narcolepsy, and neuropathy, hereditary sensory, type IE. 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)5.88965947
2protein localization to kinetochore (GO:0034501)5.85489967
3regulation of DNA methylation (GO:0044030)5.53321606
4mitotic chromosome condensation (GO:0007076)5.31141479
5nuclear pore complex assembly (GO:0051292)5.08678570
6protein localization to chromosome, centromeric region (GO:0071459)4.98245889
7regulation of female gonad development (GO:2000194)4.94441820
8nuclear pore organization (GO:0006999)4.89009663
9sister chromatid segregation (GO:0000819)4.84554120
10mitotic sister chromatid segregation (GO:0000070)4.81320934
11mitotic sister chromatid cohesion (GO:0007064)4.56661922
12DNA strand elongation involved in DNA replication (GO:0006271)4.50466451
13DNA replication initiation (GO:0006270)4.37380987
14mitotic nuclear envelope disassembly (GO:0007077)4.31960715
15DNA strand elongation (GO:0022616)4.27547408
16meiotic cell cycle (GO:0051321)4.27337703
17regulation of acrosome reaction (GO:0060046)4.22739252
18DNA replication-dependent nucleosome assembly (GO:0006335)4.15930269
19DNA replication-dependent nucleosome organization (GO:0034723)4.15930269
20nuclear envelope disassembly (GO:0051081)4.07302882
21membrane disassembly (GO:0030397)4.07302882
22DNA duplex unwinding (GO:0032508)4.02182126
23DNA geometric change (GO:0032392)4.01533704
24regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.97961240
25telomere maintenance via semi-conservative replication (GO:0032201)3.97778529
26regulation of sister chromatid cohesion (GO:0007063)3.95763238
27DNA replication checkpoint (GO:0000076)3.91350583
28positive regulation of DNA-dependent DNA replication (GO:2000105)3.90851748
29kinetochore organization (GO:0051383)3.85432548
30dosage compensation (GO:0007549)3.82983030
31pore complex assembly (GO:0046931)3.82143040
32mitotic recombination (GO:0006312)3.79782497
33positive regulation of chromosome segregation (GO:0051984)3.78279218
34regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450913.76756336
35oocyte development (GO:0048599)3.74985942
36attachment of spindle microtubules to kinetochore (GO:0008608)3.73954149
37protein localization to chromosome (GO:0034502)3.71610901
38translesion synthesis (GO:0019985)3.70424767
39mitotic metaphase plate congression (GO:0007080)3.69536432
40negative regulation of retinoic acid receptor signaling pathway (GO:0048387)3.69322931
41telomere maintenance via recombination (GO:0000722)3.68436687
42pre-miRNA processing (GO:0031054)3.62449699
43heterochromatin organization (GO:0070828)3.60186991
44chromatin assembly (GO:0031497)3.58092699
45positive regulation of mitotic metaphase/anaphase transition (GO:0045842)3.57582621
46positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)3.57582621
47positive regulation of mitotic sister chromatid separation (GO:1901970)3.57582621
48chromatin assembly or disassembly (GO:0006333)3.55655752
49folic acid-containing compound biosynthetic process (GO:0009396)3.54283194
50chromosome condensation (GO:0030261)3.52098216
51negative regulation of mRNA splicing, via spliceosome (GO:0048025)3.51161935
52metaphase plate congression (GO:0051310)3.46565719
53histone phosphorylation (GO:0016572)3.45625769
54regulation of spindle organization (GO:0090224)3.44794902
55regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)3.44339153
56DNA conformation change (GO:0071103)3.44193656
57regulation of double-strand break repair via homologous recombination (GO:0010569)3.43852200
58meiotic chromosome segregation (GO:0045132)3.39651576
59nucleotide-excision repair, DNA gap filling (GO:0006297)3.36121216
60regulation of chromosome segregation (GO:0051983)3.33744440
61negative regulation of RNA splicing (GO:0033119)3.33025961
62establishment of chromosome localization (GO:0051303)3.29950534
63DNA replication-independent nucleosome assembly (GO:0006336)3.29043509
64DNA replication-independent nucleosome organization (GO:0034724)3.29043509
65regulation of spindle checkpoint (GO:0090231)3.28503219
66protein kinase C signaling (GO:0070528)3.25860110
67chromosome segregation (GO:0007059)3.25470727
68nuclear envelope organization (GO:0006998)3.24684709
69telomere maintenance via telomere lengthening (GO:0010833)3.23753529
70chromatin remodeling at centromere (GO:0031055)3.23391524
71DNA synthesis involved in DNA repair (GO:0000731)3.22892514
72regulation of nucleobase-containing compound transport (GO:0032239)3.22850569
73regulation of DNA-dependent DNA replication (GO:0090329)3.21100873
74regulation of translational fidelity (GO:0006450)3.19875145
75postreplication repair (GO:0006301)3.18280339
76IMP biosynthetic process (GO:0006188)3.17751547
77base-excision repair (GO:0006284)3.17531377
78DNA topological change (GO:0006265)3.17270752
79CENP-A containing nucleosome assembly (GO:0034080)3.16764598
80regulation of centriole replication (GO:0046599)3.15619005
81binding of sperm to zona pellucida (GO:0007339)3.13670038
82DNA packaging (GO:0006323)3.13336951
83regulation of mitotic spindle organization (GO:0060236)3.12743765
84multicellular organism reproduction (GO:0032504)3.12684868
85sister chromatid cohesion (GO:0007062)3.12050659
86spindle checkpoint (GO:0031577)3.12008323
87regulation of DNA endoreduplication (GO:0032875)3.11640327
88regulation of RNA export from nucleus (GO:0046831)3.11521994
89regulation of meiosis I (GO:0060631)3.10899749
90regulation of retinoic acid receptor signaling pathway (GO:0048385)3.10242208
91negative regulation of chromosome segregation (GO:0051985)3.09742679
92regulation of mitotic metaphase/anaphase transition (GO:0030071)3.09406573
93spindle assembly checkpoint (GO:0071173)3.09069643
94centriole replication (GO:0007099)3.08946747
95regulation of metaphase/anaphase transition of cell cycle (GO:1902099)3.08471493
96* regulation of histone H3-K9 methylation (GO:0051570)3.08291682
97negative regulation of mRNA processing (GO:0050686)3.07840927
98* regulation of histone methylation (GO:0031060)3.07302771
99mRNA stabilization (GO:0048255)3.07061923
100RNA stabilization (GO:0043489)3.07061923
101piRNA metabolic process (GO:0034587)3.06331739
102regulation of centrosome cycle (GO:0046605)3.04066630
103regulation of double-strand break repair (GO:2000779)3.03487512
104ATP-dependent chromatin remodeling (GO:0043044)3.02963984
105IMP metabolic process (GO:0046040)2.99774105
106kinetochore assembly (GO:0051382)2.99772163
107negative regulation of mitotic sister chromatid separation (GO:2000816)2.99546660
108negative regulation of mitotic sister chromatid segregation (GO:0033048)2.99546660
109negative regulation of mitotic metaphase/anaphase transition (GO:0045841)2.99546660
110negative regulation of sister chromatid segregation (GO:0033046)2.99546660
111mitotic spindle assembly checkpoint (GO:0007094)2.99431742
112negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)2.98626555
113somatic hypermutation of immunoglobulin genes (GO:0016446)2.95843043
114somatic diversification of immune receptors via somatic mutation (GO:0002566)2.95843043
115regulation of mitotic sister chromatid separation (GO:0010965)2.95786713
116regulation of mitotic sister chromatid segregation (GO:0033047)2.95786713
117regulation of sister chromatid segregation (GO:0033045)2.95786713
118gene silencing by RNA (GO:0031047)2.95228459
119* negative regulation of histone methylation (GO:0031061)2.95096051
120histone H2A monoubiquitination (GO:0035518)2.94725373
121female gamete generation (GO:0007292)2.92686060
122mitotic spindle checkpoint (GO:0071174)2.91078753
123spliceosomal tri-snRNP complex assembly (GO:0000244)2.90987984
124positive regulation of gene expression, epigenetic (GO:0045815)2.88135106
125DNA biosynthetic process (GO:0071897)2.86803156
126chromosome organization (GO:0051276)2.86562846
127DNA replication (GO:0006260)2.86379782
128negative regulation of mRNA metabolic process (GO:1903312)2.85488722
129DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 cla2.84752032
130mitotic cell cycle (GO:0000278)2.84718359
131histone exchange (GO:0043486)2.84583085

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXM1_23109430_ChIP-Seq_U2OS_Human6.38349626
2E2F4_17652178_ChIP-ChIP_JURKAT_Human4.51076391
3EZH2_22144423_ChIP-Seq_EOC_Human3.89520211
4FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human3.73560479
5EGR1_19374776_ChIP-ChIP_THP-1_Human3.45729966
6MYC_18555785_ChIP-Seq_MESCs_Mouse3.12622227
7EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.89962306
8MYC_22102868_ChIP-Seq_BL_Human2.84574782
9* E2F1_21310950_ChIP-Seq_MCF-7_Human2.52916443
10AR_21909140_ChIP-Seq_LNCAP_Human2.48765604
11* MYC_19079543_ChIP-ChIP_MESCs_Mouse2.31109667
12* KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.27475716
13MYC_19030024_ChIP-ChIP_MESCs_Mouse2.09394869
14E2F7_22180533_ChIP-Seq_HELA_Human11.8244428
15* NELFA_20434984_ChIP-Seq_ESCs_Mouse1.92067850
16CIITA_25753668_ChIP-Seq_RAJI_Human1.90305940
17VDR_21846776_ChIP-Seq_THP-1_Human1.86584003
18NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.86133366
19XRN2_22483619_ChIP-Seq_HELA_Human1.82610501
20MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.80203881
21TP63_19390658_ChIP-ChIP_HaCaT_Human1.79861005
22MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.77611284
23MYC_18358816_ChIP-ChIP_MESCs_Mouse1.75521033
24MYCN_18555785_ChIP-Seq_MESCs_Mouse1.64998080
25FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.62936279
26E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.57488789
27ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.56351335
28EST1_17652178_ChIP-ChIP_JURKAT_Human1.48473074
29NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.43846721
30* KDM5A_27292631_Chip-Seq_BREAST_Human1.41736222
31* POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.41217451
32SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.40224615
33SALL1_21062744_ChIP-ChIP_HESCs_Human1.39162510
34TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.37940076
35* FOXP3_21729870_ChIP-Seq_TREG_Human1.37579175
36VDR_23849224_ChIP-Seq_CD4+_Human1.35523440
37* TTF2_22483619_ChIP-Seq_HELA_Human1.34789299
38NANOG_18555785_ChIP-Seq_MESCs_Mouse1.34696116
39CREB1_15753290_ChIP-ChIP_HEK293T_Human1.33969525
40HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.33526980
41TCF7_22412390_ChIP-Seq_EML_Mouse1.32082586
42YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.31903718
43CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.31622809
44ZFX_18555785_ChIP-Seq_MESCs_Mouse1.31621721
45NOTCH1_21737748_ChIP-Seq_TLL_Human1.31219578
46ETS1_20019798_ChIP-Seq_JURKAT_Human1.30910350
47PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.29885915
48* SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.29800594
49MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.29513214
50TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.27506169
51ESR1_15608294_ChIP-ChIP_MCF-7_Human1.27481379
52BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.27206431
53* CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.26435421
54CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.24969242
55YY1_21170310_ChIP-Seq_MESCs_Mouse1.24931206
56E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.22736028
57* DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.20242768
58UTX_26944678_Chip-Seq_JUKART_Human1.20156512
59* GABP_19822575_ChIP-Seq_HepG2_Human1.19642193
60KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.19187484
61KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.19187484
62KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.19187484
63KLF4_18555785_ChIP-Seq_MESCs_Mouse1.16061878
64E2F1_18555785_ChIP-Seq_MESCs_Mouse1.14816918
65HOXB4_20404135_ChIP-ChIP_EML_Mouse1.12544078
66KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.11837628
67KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.09691219
68DCP1A_22483619_ChIP-Seq_HELA_Human1.09311298
69KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.08336850
70CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.08208803
71SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.07777836
72NANOG_21062744_ChIP-ChIP_HESCs_Human1.07718868
73MAF_26560356_Chip-Seq_TH1_Human1.05090059
74TFEB_21752829_ChIP-Seq_HELA_Human1.05063469
75* ELK1_19687146_ChIP-ChIP_HELA_Human1.03207702
76SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.02883732
77STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.02497810
78HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.02066107
79SOX2_18555785_ChIP-Seq_MESCs_Mouse1.01326103
80CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.00194602
81* THAP11_20581084_ChIP-Seq_MESCs_Mouse0.99943076
82POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.96060549
83ERG_20887958_ChIP-Seq_HPC-7_Mouse0.95740789
84MYB_26560356_Chip-Seq_TH1_Human0.95668301
85PADI4_21655091_ChIP-ChIP_MCF-7_Human0.95652263
86KDM2B_26808549_Chip-Seq_DND41_Human0.95617066
87GABP_17652178_ChIP-ChIP_JURKAT_Human0.95385089
88STAT3_1855785_ChIP-Seq_MESCs_Mouse0.93547170
89ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.93210339
90* MYB_26560356_Chip-Seq_TH2_Human0.92896336
91PKCTHETA_26484144_Chip-Seq_BREAST_Human0.92265563
92SCL_19346495_ChIP-Seq_HPC-7_Human0.91090419
93FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse0.89770711
94ELF1_17652178_ChIP-ChIP_JURKAT_Human0.89057274
95CHD1_26751641_Chip-Seq_LNCaP_Human0.88979132
96SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.88833818
97CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.88714746
98ZFP42_18358816_ChIP-ChIP_MESCs_Mouse0.87510991
99KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.87470369
100TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.86880739
101GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.86757731
102SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.86129024
103MECOM_23826213_ChIP-Seq_KASUMI_Mouse0.85348959
104NCOR1_26117541_ChIP-Seq_K562_Human0.85187141
105JARID1A_20064375_ChIP-Seq_MESCs_Mouse0.84657112
106VDR_24763502_ChIP-Seq_THP-1_Human0.84320444
107BRD4_27068464_Chip-Seq_AML-cells_Mouse0.84206185
108MYB_21317192_ChIP-Seq_ERMYB_Mouse0.83712858
109PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.83416699
110* SPI1_23547873_ChIP-Seq_NB4_Human0.83300957
111KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.82816874
112STAT6_21828071_ChIP-Seq_BEAS2B_Human0.82691004
113DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.75059216
114GATA1_22383799_ChIP-Seq_G1ME_Mouse0.73721959
115TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.71590639
116* ELK3_25401928_ChIP-Seq_HUVEC_Human0.69406748
117MYC_18940864_ChIP-ChIP_HL60_Human0.68950661
118* P68_20966046_ChIP-Seq_HELA_Human0.65671061
119PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.62969883

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0010094_abnormal_chromosome_stability4.65142288
2MP0003111_abnormal_nucleus_morphology4.21211053
3MP0003693_abnormal_embryo_hatching4.04647406
4MP0003077_abnormal_cell_cycle3.68565553
5MP0004957_abnormal_blastocyst_morpholog3.51952069
6MP0008057_abnormal_DNA_replication3.50450165
7MP0006292_abnormal_olfactory_placode3.23249001
8MP0010352_gastrointestinal_tract_polyps2.85365125
9MP0010307_abnormal_tumor_latency2.60410671
10MP0002396_abnormal_hematopoietic_system2.58942724
11MP0008877_abnormal_DNA_methylation2.51695548
12MP0005076_abnormal_cell_differentiation2.35913260
13* MP0001730_embryonic_growth_arrest2.30872884
14MP0008007_abnormal_cellular_replicative2.27797876
15MP0008058_abnormal_DNA_repair2.27482813
16* MP0000350_abnormal_cell_proliferation2.24545176
17MP0003123_paternal_imprinting2.24173651
18MP0003705_abnormal_hypodermis_morpholog2.09993288
19MP0008932_abnormal_embryonic_tissue2.09851549
20MP0004808_abnormal_hematopoietic_stem2.06346582
21MP0005380_embryogenesis_phenotype1.90737320
22MP0001672_abnormal_embryogenesis/_devel1.90737320
23MP0008789_abnormal_olfactory_epithelium1.88919157
24MP0005499_abnormal_olfactory_system1.86819049
25MP0005394_taste/olfaction_phenotype1.86819049
26MP0001697_abnormal_embryo_size1.77498075
27MP0009278_abnormal_bone_marrow1.75859081
28MP0002085_abnormal_embryonic_tissue1.73759518
29MP0005395_other_phenotype1.72659837
30MP0003984_embryonic_growth_retardation1.71361644
31MP0004197_abnormal_fetal_growth/weight/1.70045795
32* MP0002084_abnormal_developmental_patter1.69726742
33MP0002088_abnormal_embryonic_growth/wei1.68055479
34MP0000569_abnormal_digit_pigmentation1.66769307
35MP0000490_abnormal_crypts_of1.62760513
36* MP0003121_genomic_imprinting1.62242990
37* MP0002086_abnormal_extraembryonic_tissu1.56213063
38* MP0002080_prenatal_lethality1.55973099
39MP0000703_abnormal_thymus_morphology1.46580371
40* MP0002019_abnormal_tumor_incidence1.43346064
41MP0003763_abnormal_thymus_physiology1.39107484
42MP0003787_abnormal_imprinting1.37282666
43MP0005397_hematopoietic_system_phenotyp1.33242245
44MP0001545_abnormal_hematopoietic_system1.33242245
45* MP0000313_abnormal_cell_death1.32861376
46MP0004185_abnormal_adipocyte_glucose1.32223223
47MP0002398_abnormal_bone_marrow1.27111993
48MP0000537_abnormal_urethra_morphology1.23080835
49MP0003786_premature_aging1.22990707
50MP0001849_ear_inflammation1.22116819
51MP0010030_abnormal_orbit_morphology1.22090097
52MP0006054_spinal_hemorrhage1.20440565
53MP0003890_abnormal_embryonic-extraembry1.20162364
54MP0003567_abnormal_fetal_cardiomyocyte1.19205948
55* MP0002161_abnormal_fertility/fecundity1.16884668
56MP0003566_abnormal_cell_adhesion1.16296074
57MP0002210_abnormal_sex_determination1.13783089
58MP0003950_abnormal_plasma_membrane1.13357876
59MP0002877_abnormal_melanocyte_morpholog1.12827809
60MP0001915_intracranial_hemorrhage1.12749454
61MP0003300_gastrointestinal_ulcer1.11843615
62MP0000733_abnormal_muscle_development1.11708742
63MP0003718_maternal_effect1.09892497
64* MP0002722_abnormal_immune_system1.07834481
65MP0002234_abnormal_pharynx_morphology1.07006417
66MP0000566_synostosis1.03688172
67MP0004233_abnormal_muscle_weight0.99234713
68MP0000678_abnormal_parathyroid_gland0.98912345
69MP0005501_abnormal_skin_physiology0.98356235
70MP0005023_abnormal_wound_healing0.96389708
71* MP0000689_abnormal_spleen_morphology0.95593807
72MP0003937_abnormal_limbs/digits/tail_de0.95154784
73MP0001929_abnormal_gametogenesis0.94565731
74MP0009672_abnormal_birth_weight0.94218123
75MP0001145_abnormal_male_reproductive0.92937886
76MP0001293_anophthalmia0.91817982
77MP0009053_abnormal_anal_canal0.91629325
78MP0009703_decreased_birth_body0.91460490
79MP0000428_abnormal_craniofacial_morphol0.90135809
80MP0009333_abnormal_splenocyte_physiolog0.89489794
81MP0009697_abnormal_copulation0.89256180
82MP0000653_abnormal_sex_gland0.88728504
83MP0010234_abnormal_vibrissa_follicle0.86963737
84MP0005621_abnormal_cell_physiology0.86311175
85MP0002429_abnormal_blood_cell0.85465903
86MP0004264_abnormal_extraembryonic_tissu0.85437076
87MP0001119_abnormal_female_reproductive0.85135911
88MP0002925_abnormal_cardiovascular_devel0.82993803
89MP0000465_gastrointestinal_hemorrhage0.81455025
90MP0003935_abnormal_craniofacial_develop0.81029119
91MP0005410_abnormal_fertilization0.80496194
92MP0002160_abnormal_reproductive_system0.80122067
93MP0003698_abnormal_male_reproductive0.79947027
94MP0003119_abnormal_digestive_system0.79681704
95MP0002092_abnormal_eye_morphology0.79087738
96MP0003303_peritoneal_inflammation0.78133071
97MP0000716_abnormal_immune_system0.77579258
98MP0002111_abnormal_tail_morphology0.77535031
99* MP0005384_cellular_phenotype0.77033862
100MP0003115_abnormal_respiratory_system0.76782232
101MP0002697_abnormal_eye_size0.76356435
102MP0009379_abnormal_foot_pigmentation0.74544157
103MP0000477_abnormal_intestine_morphology0.73594309
104MP0003315_abnormal_perineum_morphology0.73020268
105* MP0003699_abnormal_female_reproductive0.71424442
106MP0001800_abnormal_humoral_immune0.71269238
107MP0000015_abnormal_ear_pigmentation0.70805400
108MP0008770_decreased_survivor_rate0.69504320
109MP0002163_abnormal_gland_morphology0.69388770
110MP0005174_abnormal_tail_pigmentation0.68981249
111MP0002075_abnormal_coat/hair_pigmentati0.68814746
112MP0000432_abnormal_head_morphology0.68421115
113MP0000358_abnormal_cell_content/0.68213593
114MP0000858_altered_metastatic_potential0.67923260
115MP0002796_impaired_skin_barrier0.67415811
116* MP0003861_abnormal_nervous_system0.66911651
117MP0000383_abnormal_hair_follicle0.65462816
118MP0002166_altered_tumor_susceptibility0.65412537
119MP0000762_abnormal_tongue_morphology0.64055786
120MP0002932_abnormal_joint_morphology0.62953035
121MP0000685_abnormal_immune_system0.62024128
122MP0002006_tumorigenesis0.61346710
123MP0005647_abnormal_sex_gland0.60452783
124MP0001881_abnormal_mammary_gland0.60362410
125MP0005451_abnormal_body_composition0.60311462
126MP0000266_abnormal_heart_morphology0.59124964
127MP0002233_abnormal_nose_morphology0.57887643
128MP0005389_reproductive_system_phenotype0.57201320
129MP0002089_abnormal_postnatal_growth/wei0.56889171
130MP0001286_abnormal_eye_development0.55993090
131MP0008995_early_reproductive_senescence0.55864267
132MP0002249_abnormal_larynx_morphology0.52322817
133MP0005409_darkened_coat_color0.52045948
134MP0000627_abnormal_mammary_gland0.50214866
135MP0000377_abnormal_hair_follicle0.49858948
136MP0002114_abnormal_axial_skeleton0.48459213
137MP0003943_abnormal_hepatobiliary_system0.46981817
138MP0002138_abnormal_hepatobiliary_system0.46639948

Predicted human phenotypes

RankGene SetZ-score
1Abdominal situs inversus (HP:0003363)3.86662591
2Abnormality of abdominal situs (HP:0011620)3.86662591
3Chromsome breakage (HP:0040012)3.82452259
4Cholecystitis (HP:0001082)3.81065835
5Abnormal gallbladder physiology (HP:0012438)3.81065835
6Ependymoma (HP:0002888)3.47389515
7Chromosomal breakage induced by crosslinking agents (HP:0003221)3.47117701
8Increased nuchal translucency (HP:0010880)3.45728843
9Volvulus (HP:0002580)3.42329154
10Urethral obstruction (HP:0000796)3.34527825
11Medulloblastoma (HP:0002885)3.33362312
12Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)3.17492664
13Short 4th metacarpal (HP:0010044)3.17492664
14Premature ovarian failure (HP:0008209)3.05725847
15Abnormality of chromosome stability (HP:0003220)2.99793565
16Abnormality of the fingertips (HP:0001211)2.95464988
17Rhabdomyosarcoma (HP:0002859)2.89369414
18Hyperacusis (HP:0010780)2.88364933
19Selective tooth agenesis (HP:0001592)2.80916963
20Male infertility (HP:0003251)2.79311484
21Abnormality of the astrocytes (HP:0100707)2.77273914
22Astrocytoma (HP:0009592)2.77273914
23Ectopic kidney (HP:0000086)2.75926990
24Deviation of the thumb (HP:0009603)2.74841158
25Capillary hemangiomas (HP:0005306)2.74419388
26Proximal placement of thumb (HP:0009623)2.73936807
27Colon cancer (HP:0003003)2.73542858
28Birth length less than 3rd percentile (HP:0003561)2.72077397
29Reticulocytopenia (HP:0001896)2.65628663
30Hypergonadotropic hypogonadism (HP:0000815)2.59383625
31Lip pit (HP:0100267)2.58839269
32Embryonal renal neoplasm (HP:0011794)2.58458827
33Patellar aplasia (HP:0006443)2.58272584
34High pitched voice (HP:0001620)2.54081379
35Multiple enchondromatosis (HP:0005701)2.54029873
36Neoplasm of striated muscle (HP:0009728)2.53750684
37Poikiloderma (HP:0001029)2.51918101
38Aplasia/Hypoplasia of the uvula (HP:0010293)2.44849334
39Myelodysplasia (HP:0002863)2.43521523
40Prominent nose (HP:0000448)2.42546650
41Meckel diverticulum (HP:0002245)2.42468068
42Basal cell carcinoma (HP:0002671)2.42446643
43High anterior hairline (HP:0009890)2.40817164
44Cafe-au-lait spot (HP:0000957)2.38402193
45Abnormality of the carotid arteries (HP:0005344)2.38401315
46Aplasia/Hypoplasia of the patella (HP:0006498)2.37234465
47Dysmetric saccades (HP:0000641)2.36583397
48Small intestinal stenosis (HP:0012848)2.35178498
49Duodenal stenosis (HP:0100867)2.35178498
50Abnormality of the ileum (HP:0001549)2.32763328
51Deep palmar crease (HP:0006191)2.32269708
52Abnormality of the preputium (HP:0100587)2.31305656
53Long eyelashes (HP:0000527)2.29994217
54Renal duplication (HP:0000075)2.28179085
55Horseshoe kidney (HP:0000085)2.27930533
56Agnosia (HP:0010524)2.25360329
57Facial hemangioma (HP:0000329)2.24820810
58Abnormality of the labia minora (HP:0012880)2.24668378
59Abnormality of the 4th metacarpal (HP:0010012)2.22875899
60Neoplasm of the oral cavity (HP:0100649)2.21986979
61Glioma (HP:0009733)2.21909486
62Acute lymphatic leukemia (HP:0006721)2.21243519
63Abnormal number of incisors (HP:0011064)2.18575568
64Abnormality of cochlea (HP:0000375)2.16154835
65Choanal atresia (HP:0000453)2.15808710
66Progressive muscle weakness (HP:0003323)2.15381632
67Abnormality of the phalanges of the hallux (HP:0010057)2.14224879
68Heterotopia (HP:0002282)2.11693960
69Malignant gastrointestinal tract tumors (HP:0006749)2.11394183
70Gastrointestinal carcinoma (HP:0002672)2.11394183
71Renovascular hypertension (HP:0100817)2.10883949
72Microvesicular hepatic steatosis (HP:0001414)2.07622360
73Atresia of the external auditory canal (HP:0000413)2.06893731
74Abnormality of chromosome segregation (HP:0002916)2.03415665
75Overlapping toe (HP:0001845)2.02765733
76Cutis marmorata (HP:0000965)2.01997572
77Arteriovenous malformation (HP:0100026)2.01867169
78Hypokinesia (HP:0002375)2.01797731
79Sandal gap (HP:0001852)2.01779065
80Supernumerary spleens (HP:0009799)2.01341089
81Microglossia (HP:0000171)2.01255401
82Aplasia/Hypoplasia of the sacrum (HP:0008517)2.01132204
83Duplication of thumb phalanx (HP:0009942)2.01082685
84Absent thumb (HP:0009777)2.00812060
85Oligodactyly (HP:0012165)1.98685020
86Sloping forehead (HP:0000340)1.98446881
87Secondary amenorrhea (HP:0000869)1.97127129
88Aplasia/Hypoplasia of the fovea (HP:0008060)1.96916063
89Hypoplasia of the fovea (HP:0007750)1.96916063
90Skull defect (HP:0001362)1.95298444
91Oligodactyly (hands) (HP:0001180)1.95226812
92Duplicated collecting system (HP:0000081)1.94779125
93Trigonocephaly (HP:0000243)1.92817617
94Aplasia/Hypoplasia of the sternum (HP:0006714)1.92289278
95Elfin facies (HP:0004428)1.91717002
96Overriding aorta (HP:0002623)1.91469285
97Cleft eyelid (HP:0000625)1.91157848
98Abnormality of the duodenum (HP:0002246)1.89335520
99Broad palm (HP:0001169)1.88777860
100Entropion (HP:0000621)1.88526756
101Deep philtrum (HP:0002002)1.85771148
102Triphalangeal thumb (HP:0001199)1.85706519
103Anterior segment dysgenesis (HP:0007700)1.85029445
104Increased density of long bones (HP:0006392)1.84924203
105Cortical dysplasia (HP:0002539)1.84721469
106Missing ribs (HP:0000921)1.83501531
107Spinal cord compression (HP:0002176)1.82623460
108Short thumb (HP:0009778)1.82499417
109Absent radius (HP:0003974)1.81958152
110Papillary thyroid carcinoma (HP:0002895)1.81491073
111Hereditary nonpolyposis colorectal carcinoma (HP:0006716)1.80582961
112Ulnar bowing (HP:0003031)1.80094618
113Osteomalacia (HP:0002749)1.78361238
114Embryonal neoplasm (HP:0002898)1.78153232
115Skin tags (HP:0010609)1.77969691
116Biliary tract neoplasm (HP:0100574)1.77436161
11711 pairs of ribs (HP:0000878)1.76993388
118Trismus (HP:0000211)1.76092704
119Abnormality of the septum pellucidum (HP:0007375)1.75969166
120Tracheoesophageal fistula (HP:0002575)1.74425580
121Obsessive-compulsive behavior (HP:0000722)1.74348575
122Enlarged penis (HP:0000040)1.74220889
123Aplasia/Hypoplasia of the earlobes (HP:0009906)1.74099470
124Lower limb hyperreflexia (HP:0002395)1.72975721
125Amaurosis fugax (HP:0100576)1.72708177
126Bowel diverticulosis (HP:0005222)1.72627576
127Truncal obesity (HP:0001956)1.72460940
128Cutaneous melanoma (HP:0012056)1.72220722
129Facial cleft (HP:0002006)1.71707723
130Neoplasm of the pancreas (HP:0002894)1.70075921
131Acute myeloid leukemia (HP:0004808)1.69559530
132Squamous cell carcinoma (HP:0002860)1.68982877
133Absent forearm bone (HP:0003953)1.68608571
134Aplasia involving forearm bones (HP:0009822)1.68608571
135Abnormal lung lobation (HP:0002101)1.68369154
136Pointed chin (HP:0000307)1.68236891
137Breast hypoplasia (HP:0003187)1.67888570
138Abnormality of the calcaneus (HP:0008364)1.67565655
139Clubbing of toes (HP:0100760)1.67032700
140Megalocornea (HP:0000485)1.65227832
141Insomnia (HP:0100785)1.64901289
142Abnormality of the anterior horn cell (HP:0006802)1.64723883
143Degeneration of anterior horn cells (HP:0002398)1.64723883
144Nephroblastoma (Wilms tumor) (HP:0002667)1.64317259
145Low anterior hairline (HP:0000294)1.63647785
146Abnormality of DNA repair (HP:0003254)1.62542613
147Subacute progressive viral hepatitis (HP:0006572)1.62463359
148Preauricular skin tag (HP:0000384)1.62460757
149Ovarian neoplasm (HP:0100615)1.61086070

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CDC75.32423343
2CDK124.10305842
3EEF2K4.06524443
4NEK23.23960313
5MAP3K102.78484862
6MAP3K132.77147244
7MAP3K92.70361624
8SMG12.67734998
9PKN22.58787884
10ARAF2.58316435
11TTK2.48138440
12WEE12.47607020
13STK102.35727760
14BUB12.10962399
15TRIB32.07659631
16RPS6KB21.96690052
17CDK41.84210632
18ATR1.80119840
19NEK11.78139093
20BRAF1.77820294
21PASK1.70833270
22CHEK21.66444645
23PLK11.65250044
24AURKB1.60820094
25CDK71.60333694
26BRD41.59176654
27SCYL21.58518139
28MAP3K81.56204641
29CHEK11.44515133
30VRK21.44075627
31MAP4K11.35308804
32CDK61.34790349
33PLK41.34674451
34STK41.34027962
35LRRK21.31935384
36NEK61.29521756
37SRPK11.29221491
38ACVR1B1.24846613
39PRPF4B1.24811840
40TESK21.23124162
41TSSK61.21434870
42IRAK31.20046442
43NME21.19948178
44MKNK11.18433472
45BRSK21.14333708
46ATM1.13549057
47ALK1.11449216
48RAF11.11229582
49RPS6KA41.09847239
50PAK41.09027082
51TGFBR11.08486503
52MELK1.07024260
53TLK11.06556931
54* CDK21.00609204
55TTN0.99714059
56MET0.98844032
57KSR20.96557883
58PRKCI0.96024300
59CDK90.95629700
60STK30.94925332
61PLK30.94413406
62* MTOR0.91541691
63AURKA0.88228589
64PTK60.88225870
65BRSK10.86951622
66MOS0.86115572
67PIM10.84208536
68PBK0.82773602
69* CDK10.77474012
70EIF2AK10.77362825
71CDK80.76576071
72MKNK20.74877159
73LATS10.72269034
74GRK60.71178300
75CLK10.69389386
76ICK0.68835006
77BMX0.67263856
78STK240.64625563
79DYRK30.63211106
80VRK10.62728381
81SIK20.61739800
82CAMK1D0.61138784
83FLT30.60286617
84PDGFRA0.58759205
85AKT20.54876215
86PAK20.54595388
87CSF1R0.53278318
88BTK0.51962816
89MARK30.50862219
90KSR10.50578095
91ZAK0.49352128
92PRKDC0.49236108
93MAPK140.48178137
94JAK30.46947429
95PTK20.46724297
96TAOK30.44129664
97TYRO30.41951902
98EIF2AK30.41639447
99TAOK20.41257906
100MAP3K60.40462267
101PAK10.40124760
102KDR0.39450232
103FGFR10.39361732
104EIF2AK20.38128101
105TRPM70.37828725
106TRIM280.37068915
107CSNK2A20.36813827
108MAPKAPK30.36666358
109MAPK110.36654567
110LATS20.36472181
111* CSNK1D0.36393197
112* AKT10.34972428
113RIPK10.33848558
114WNK10.33707184
115TAF10.33309922
116ZAP700.33120741
117MAPK10.32753209
118RPS6KA50.32299797
119CDK11A0.32101134
120CCNB10.31969583
121GSK3B0.31948062
122TAOK10.31677067
123* CSNK1E0.30720049
124MST1R0.30578696
125CAMK1G0.29483822
126PDGFRB0.29139352
127RPS6KA10.28348777
128FGFR30.27425300
129PNCK0.27155011
130NME10.26987306
131MAP2K30.26360856
132KIT0.26042097
133MAPK100.25468607
134ILK0.25397359
135ERN10.25263350
136CDK150.24141340
137NUAK10.24080651
138DMPK0.23124313

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030304.75225558
2Mismatch repair_Homo sapiens_hsa034303.87361713
3Cell cycle_Homo sapiens_hsa041103.19973766
4Base excision repair_Homo sapiens_hsa034102.89065909
5Spliceosome_Homo sapiens_hsa030402.77037812
6RNA transport_Homo sapiens_hsa030132.73682012
7Homologous recombination_Homo sapiens_hsa034402.60300130
8Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.38458586
9Nucleotide excision repair_Homo sapiens_hsa034202.34833185
10One carbon pool by folate_Homo sapiens_hsa006702.32617767
11Non-homologous end-joining_Homo sapiens_hsa034502.28058775
12Fanconi anemia pathway_Homo sapiens_hsa034602.22384319
13mRNA surveillance pathway_Homo sapiens_hsa030152.10647289
14Systemic lupus erythematosus_Homo sapiens_hsa053221.82432663
15Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.81523267
16RNA degradation_Homo sapiens_hsa030181.68962220
17p53 signaling pathway_Homo sapiens_hsa041151.62218759
18Viral carcinogenesis_Homo sapiens_hsa052031.54541498
19Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.43130570
20Chronic myeloid leukemia_Homo sapiens_hsa052201.41068806
21* MicroRNAs in cancer_Homo sapiens_hsa052061.39232044
22Basal transcription factors_Homo sapiens_hsa030221.36816940
23Ribosome_Homo sapiens_hsa030101.32534080
24HTLV-I infection_Homo sapiens_hsa051661.29555111
25Small cell lung cancer_Homo sapiens_hsa052221.22669055
26Colorectal cancer_Homo sapiens_hsa052101.22550049
27Oocyte meiosis_Homo sapiens_hsa041141.22354841
28Pyrimidine metabolism_Homo sapiens_hsa002401.20864772
29Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.20328050
30Herpes simplex infection_Homo sapiens_hsa051681.14138108
31Transcriptional misregulation in cancer_Homo sapiens_hsa052021.11769217
32RNA polymerase_Homo sapiens_hsa030201.10764009
33Antigen processing and presentation_Homo sapiens_hsa046121.09980518
34Epstein-Barr virus infection_Homo sapiens_hsa051691.08572668
35Non-small cell lung cancer_Homo sapiens_hsa052231.06732672
36Primary immunodeficiency_Homo sapiens_hsa053401.05305641
37Pancreatic cancer_Homo sapiens_hsa052121.04240197
38Notch signaling pathway_Homo sapiens_hsa043301.03797089
39Lysine degradation_Homo sapiens_hsa003101.01959413
40mTOR signaling pathway_Homo sapiens_hsa041500.98202671
41Thyroid cancer_Homo sapiens_hsa052160.95016458
42Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.92819487
43Alcoholism_Homo sapiens_hsa050340.92654458
44Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.92106612
45Hepatitis B_Homo sapiens_hsa051610.91280936
46Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.88656951
47Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.86940034
48Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.86438853
49B cell receptor signaling pathway_Homo sapiens_hsa046620.85429805
50Viral myocarditis_Homo sapiens_hsa054160.84125338
51Adherens junction_Homo sapiens_hsa045200.83571403
52Endometrial cancer_Homo sapiens_hsa052130.82309056
53Acute myeloid leukemia_Homo sapiens_hsa052210.81794246
54Basal cell carcinoma_Homo sapiens_hsa052170.80297637
55Apoptosis_Homo sapiens_hsa042100.79099938
56Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.78741784
57Central carbon metabolism in cancer_Homo sapiens_hsa052300.75685837
58Hippo signaling pathway_Homo sapiens_hsa043900.74194414
59Ovarian steroidogenesis_Homo sapiens_hsa049130.73906960
60Prostate cancer_Homo sapiens_hsa052150.71320820
61Bladder cancer_Homo sapiens_hsa052190.71194600
62Thyroid hormone signaling pathway_Homo sapiens_hsa049190.70494188
63TGF-beta signaling pathway_Homo sapiens_hsa043500.70007934
64Proteoglycans in cancer_Homo sapiens_hsa052050.69766156
65Folate biosynthesis_Homo sapiens_hsa007900.68216859
66Measles_Homo sapiens_hsa051620.66999079
67Inositol phosphate metabolism_Homo sapiens_hsa005620.64802992
68T cell receptor signaling pathway_Homo sapiens_hsa046600.64419812
69Pathways in cancer_Homo sapiens_hsa052000.62351817
70Glioma_Homo sapiens_hsa052140.61840749
71Shigellosis_Homo sapiens_hsa051310.61646100
72Neurotrophin signaling pathway_Homo sapiens_hsa047220.59448594
73Leukocyte transendothelial migration_Homo sapiens_hsa046700.59157838
74VEGF signaling pathway_Homo sapiens_hsa043700.59109230
75NF-kappa B signaling pathway_Homo sapiens_hsa040640.58235044
76HIF-1 signaling pathway_Homo sapiens_hsa040660.55574732
77* Cysteine and methionine metabolism_Homo sapiens_hsa002700.54728624
78FoxO signaling pathway_Homo sapiens_hsa040680.51031851
79Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.50711698
80ErbB signaling pathway_Homo sapiens_hsa040120.49889535
81Phosphatidylinositol signaling system_Homo sapiens_hsa040700.49325792
82Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.48820029
83Influenza A_Homo sapiens_hsa051640.48327881
84Gap junction_Homo sapiens_hsa045400.48151967
85AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.48122640
86Toxoplasmosis_Homo sapiens_hsa051450.47511799
87Platelet activation_Homo sapiens_hsa046110.47035445
88Longevity regulating pathway - mammal_Homo sapiens_hsa042110.45556330
89Purine metabolism_Homo sapiens_hsa002300.45326655
90Renal cell carcinoma_Homo sapiens_hsa052110.45053890
91Regulation of actin cytoskeleton_Homo sapiens_hsa048100.44400453
92Focal adhesion_Homo sapiens_hsa045100.43921214
93Hedgehog signaling pathway_Homo sapiens_hsa043400.43833422
94Hematopoietic cell lineage_Homo sapiens_hsa046400.43816379
95Dorso-ventral axis formation_Homo sapiens_hsa043200.42558436
96Prolactin signaling pathway_Homo sapiens_hsa049170.42013659
97Jak-STAT signaling pathway_Homo sapiens_hsa046300.40357724
98Wnt signaling pathway_Homo sapiens_hsa043100.39921736
99Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.39835047
100Leishmaniasis_Homo sapiens_hsa051400.39597428
101Melanoma_Homo sapiens_hsa052180.39370880
102Selenocompound metabolism_Homo sapiens_hsa004500.38543222
103Legionellosis_Homo sapiens_hsa051340.38159113
104Sulfur relay system_Homo sapiens_hsa041220.37841105
105Proteasome_Homo sapiens_hsa030500.37361918
106N-Glycan biosynthesis_Homo sapiens_hsa005100.37127310
107Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.36903273
108Biosynthesis of amino acids_Homo sapiens_hsa012300.36901207
109Osteoclast differentiation_Homo sapiens_hsa043800.36069328
110Cyanoamino acid metabolism_Homo sapiens_hsa004600.35324359
1112-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.34281254
112Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.32587180
113NOD-like receptor signaling pathway_Homo sapiens_hsa046210.31882294
114Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.31653334
115Pentose phosphate pathway_Homo sapiens_hsa000300.29809317
116Vitamin B6 metabolism_Homo sapiens_hsa007500.29759388
117Insulin signaling pathway_Homo sapiens_hsa049100.27958811
118Carbon metabolism_Homo sapiens_hsa012000.26250616
119Sphingolipid signaling pathway_Homo sapiens_hsa040710.15064380

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