TP53

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 tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1DNA strand elongation involved in DNA replication (GO:0006271)4.94485623
2DNA unwinding involved in DNA replication (GO:0006268)4.85038371
3DNA strand elongation (GO:0022616)4.77865096
4establishment of integrated proviral latency (GO:0075713)4.60011393
5telomere maintenance via semi-conservative replication (GO:0032201)4.43201667
6heterochromatin organization (GO:0070828)3.83098521
7L-serine metabolic process (GO:0006563)3.81469684
8telomere maintenance via recombination (GO:0000722)3.75304185
9ribosomal small subunit assembly (GO:0000028)3.72980696
10DNA replication initiation (GO:0006270)3.70733316
11folic acid-containing compound biosynthetic process (GO:0009396)3.65516720
12establishment of viral latency (GO:0019043)3.64765176
13mitotic recombination (GO:0006312)3.61995025
14DNA replication checkpoint (GO:0000076)3.55610951
15nucleobase biosynthetic process (GO:0046112)3.52668313
16formation of translation preinitiation complex (GO:0001731)3.52640195
17protein localization to kinetochore (GO:0034501)3.45454260
18peptidyl-arginine omega-N-methylation (GO:0035247)3.45268985
19mitotic chromosome condensation (GO:0007076)3.44588431
20ribosomal small subunit biogenesis (GO:0042274)3.43168590
21maturation of SSU-rRNA (GO:0030490)3.38355525
22viral transcription (GO:0019083)3.37721512
23protein localization to chromosome, centromeric region (GO:0071459)3.33955851
24* base-excision repair (GO:0006284)3.29397887
25chromatin remodeling at centromere (GO:0031055)3.29125721
26histone arginine methylation (GO:0034969)3.27928818
27mitotic sister chromatid segregation (GO:0000070)3.27263468
28translational termination (GO:0006415)3.26588406
29somatic hypermutation of immunoglobulin genes (GO:0016446)3.25126663
30somatic diversification of immune receptors via somatic mutation (GO:0002566)3.25126663
31negative regulation of mRNA splicing, via spliceosome (GO:0048025)3.24291568
32mitotic nuclear envelope disassembly (GO:0007077)3.24130537
33purine nucleobase biosynthetic process (GO:0009113)3.23763050
34spliceosomal snRNP assembly (GO:0000387)3.23544950
35kinetochore organization (GO:0051383)3.21945962
36viral mRNA export from host cell nucleus (GO:0046784)3.19723166
37CENP-A containing nucleosome assembly (GO:0034080)3.18965031
38IMP biosynthetic process (GO:0006188)3.17698391
39deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.16614781
40negative regulation of mRNA processing (GO:0050686)3.16071388
41DNA ligation (GO:0006266)3.15770813
42mitotic metaphase plate congression (GO:0007080)3.12078650
43telomere maintenance via telomere lengthening (GO:0010833)3.10486869
44translational elongation (GO:0006414)3.07090614
45kinetochore assembly (GO:0051382)3.06838949
46negative regulation of RNA splicing (GO:0033119)3.06526014
47nucleotide-excision repair, DNA gap filling (GO:0006297)3.04798906
48non-recombinational repair (GO:0000726)3.04729195
49double-strand break repair via nonhomologous end joining (GO:0006303)3.04729195
50DNA replication-dependent nucleosome assembly (GO:0006335)3.04010844
51DNA replication-dependent nucleosome organization (GO:0034723)3.04010844
52spliceosomal tri-snRNP complex assembly (GO:0000244)3.03381461
53regulation of translational fidelity (GO:0006450)3.02668550
54sister chromatid segregation (GO:0000819)3.02436694
55nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)2.96413773
56ribosome biogenesis (GO:0042254)2.96226384
57transcription-coupled nucleotide-excision repair (GO:0006283)2.94977398
58negative regulation of mRNA metabolic process (GO:1903312)2.94269140
59translational initiation (GO:0006413)2.93404707
60ribonucleoprotein complex biogenesis (GO:0022613)2.92945977
61DNA topological change (GO:0006265)2.92203480
62membrane disassembly (GO:0030397)2.91873988
63nuclear envelope disassembly (GO:0051081)2.91873988
64negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)2.91458636
65SRP-dependent cotranslational protein targeting to membrane (GO:0006614)2.91199303
66serine family amino acid biosynthetic process (GO:0009070)2.89971350
67peptidyl-arginine N-methylation (GO:0035246)2.88787661
68peptidyl-arginine methylation (GO:0018216)2.88787661
69pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)2.88305463
70rRNA processing (GO:0006364)2.87926642
71pseudouridine synthesis (GO:0001522)2.86156883
72cotranslational protein targeting to membrane (GO:0006613)2.82954644
73ribosome assembly (GO:0042255)2.82937005
74DNA duplex unwinding (GO:0032508)2.82720648
75nucleosome disassembly (GO:0006337)2.82061704
76protein-DNA complex disassembly (GO:0032986)2.82061704
77positive regulation of chromosome segregation (GO:0051984)2.81396859
78regulation of translational termination (GO:0006449)2.80187866
79protein targeting to ER (GO:0045047)2.80015069
80V(D)J recombination (GO:0033151)2.79377990
81rRNA modification (GO:0000154)2.75707633
82nuclear pore complex assembly (GO:0051292)2.75398949
83rRNA metabolic process (GO:0016072)2.75308266
84peptidyl-histidine modification (GO:0018202)2.74561945
85IMP metabolic process (GO:0046040)2.74542828
86DNA geometric change (GO:0032392)2.74155959
87pyrimidine nucleoside triphosphate metabolic process (GO:0009147)2.74145529
88regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)2.73975434
89metaphase plate congression (GO:0051310)2.72340533
90negative regulation of ubiquitin-protein transferase activity (GO:0051444)2.71969148
91negative regulation of ligase activity (GO:0051352)2.71969148
92anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:02.71627748
93* chromatin assembly or disassembly (GO:0006333)2.71399815
94regulation of mitochondrial translation (GO:0070129)2.71259485
95ATP-dependent chromatin remodeling (GO:0043044)2.71215033
96regulation of nuclear cell cycle DNA replication (GO:0033262)2.70843484
97translation (GO:0006412)2.68637129
98replication fork processing (GO:0031297)2.67553477
99telomere organization (GO:0032200)2.67448278
100pyrimidine ribonucleoside triphosphate biosynthetic process (GO:0009209)2.67253687

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human7.92275794
2MYC_18555785_ChIP-Seq_MESCs_Mouse4.14380704
3EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.63634511
4FOXM1_23109430_ChIP-Seq_U2OS_Human3.48082337
5* E2F4_17652178_ChIP-ChIP_JURKAT_Human3.45300200
6HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.37093200
7FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human3.26572199
8KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.97870604
9* MYC_18358816_ChIP-ChIP_MESCs_Mouse2.92721841
10* MYC_19030024_ChIP-ChIP_MESCs_Mouse2.85502117
11JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.84460747
12* MYC_19079543_ChIP-ChIP_MESCs_Mouse2.78815871
13MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.72261043
14* EST1_17652178_ChIP-ChIP_JURKAT_Human2.66631098
15NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.45980661
16ETS1_20019798_ChIP-Seq_JURKAT_Human2.45509946
17XRN2_22483619_ChIP-Seq_HELA_Human2.42805266
18* ELF1_17652178_ChIP-ChIP_JURKAT_Human2.40677530
19* GABP_17652178_ChIP-ChIP_JURKAT_Human2.38887441
20CREB1_15753290_ChIP-ChIP_HEK293T_Human2.35340589
21CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.33878967
22MYC_22102868_ChIP-Seq_BL_Human2.30698590
23THAP11_20581084_ChIP-Seq_MESCs_Mouse2.23252688
24NELFA_20434984_ChIP-Seq_ESCs_Mouse2.20629524
25E2F1_21310950_ChIP-Seq_MCF-7_Human2.07203493
26FOXP3_21729870_ChIP-Seq_TREG_Human2.03413673
27CCND1_20090754_ChIP-ChIP_RETINA_Mouse2.00599880
28E2F1_18555785_ChIP-Seq_MESCs_Mouse2.00511800
29MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.88705184
30E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.86606717
31TTF2_22483619_ChIP-Seq_HELA_Human1.83230906
32GABP_19822575_ChIP-Seq_HepG2_Human1.83157562
33DCP1A_22483619_ChIP-Seq_HELA_Human1.80599525
34MYCN_18555785_ChIP-Seq_MESCs_Mouse1.80227791
35ZFX_18555785_ChIP-Seq_MESCs_Mouse1.72594761
36NANOG_18555785_ChIP-Seq_MESCs_Mouse1.72179462
37POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.67898661
38* VDR_23849224_ChIP-Seq_CD4+_Human1.67268572
39YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.65498916
40* KDM5A_27292631_Chip-Seq_BREAST_Human1.64779695
41YY1_21170310_ChIP-Seq_MESCs_Mouse1.63131784
42AR_21909140_ChIP-Seq_LNCAP_Human1.61840284
43ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.57475147
44HOXB4_20404135_ChIP-ChIP_EML_Mouse1.55284903
45PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.55245865
46CIITA_25753668_ChIP-Seq_RAJI_Human1.53823289
47DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.52519102
48TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.51477401
49SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.50246023
50SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.49923141
51* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.48876883
52SRF_21415370_ChIP-Seq_HL-1_Mouse1.46089209
53ELK1_19687146_ChIP-ChIP_HELA_Human1.39430017
54TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.37969430
55MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.37702316
56FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.37133912
57* E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.35122452
58ERG_20887958_ChIP-Seq_HPC-7_Mouse1.34619636
59VDR_21846776_ChIP-Seq_THP-1_Human1.31912732
60* TP63_19390658_ChIP-ChIP_HaCaT_Human1.31500118
61TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.31300465
62KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.30932281
63PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.29184356
64* KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.23261479
65KLF4_18555785_ChIP-Seq_MESCs_Mouse1.22136524
66PADI4_21655091_ChIP-ChIP_MCF-7_Human1.20059793
67CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.19893931
68ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.18438074
69SOX2_18555785_ChIP-Seq_MESCs_Mouse1.17494125
70SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.15339822
71FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.15334055
72* POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.13572714
73BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.13491124
74DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.11285994
75MYC_18940864_ChIP-ChIP_HL60_Human1.10390995
76NOTCH1_21737748_ChIP-Seq_TLL_Human1.10357596
77ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.10253155
78SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.10226395
79POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.09265813
80CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.08495537
81CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.06571996
82STAT3_1855785_ChIP-Seq_MESCs_Mouse1.04421142
83CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.99876432
84CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.99805642
85* FOXP1_21924763_ChIP-Seq_HESCs_Human0.96968981
86CEBPB_24764292_ChIP-Seq_MC3T3_Mouse0.96343364
87GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.95337484
88CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.93353633
89HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.92887234
90STAT6_21828071_ChIP-Seq_BEAS2B_Human0.91095423
91NANOG_16153702_ChIP-ChIP_HESCs_Human0.90823751
92TET1_21451524_ChIP-Seq_MESCs_Mouse0.89916623
93* KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.88875781
94SOX2_16153702_ChIP-ChIP_HESCs_Human0.88033360
95CHD1_26751641_Chip-Seq_LNCaP_Human0.87820953
96TFEB_21752829_ChIP-Seq_HELA_Human0.83620920
97NANOG_21062744_ChIP-ChIP_HESCs_Human0.82182274
98ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.80949229
99SMAD1_18555785_ChIP-Seq_MESCs_Mouse0.80764120
100CTCF_18555785_ChIP-Seq_MESCs_Mouse0.79348459

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0010094_abnormal_chromosome_stability4.61934278
2MP0003693_abnormal_embryo_hatching4.50409672
3MP0003111_abnormal_nucleus_morphology4.09991290
4MP0004957_abnormal_blastocyst_morpholog3.73697175
5MP0008058_abnormal_DNA_repair3.26273683
6MP0008057_abnormal_DNA_replication3.22669423
7MP0003077_abnormal_cell_cycle3.18198724
8MP0008932_abnormal_embryonic_tissue2.78153989
9MP0010030_abnormal_orbit_morphology2.69589579
10MP0008007_abnormal_cellular_replicative2.21924317
11MP0002396_abnormal_hematopoietic_system2.19856054
12MP0001730_embryonic_growth_arrest1.89127382
13MP0002254_reproductive_system_inflammat1.87711408
14MP0000350_abnormal_cell_proliferation1.85008847
15MP0000537_abnormal_urethra_morphology1.81063703
16MP0009697_abnormal_copulation1.75423056
17MP0002234_abnormal_pharynx_morphology1.68427385
18MP0001697_abnormal_embryo_size1.59181444
19MP0001672_abnormal_embryogenesis/_devel1.58580759
20MP0005380_embryogenesis_phenotype1.58580759
21MP0003786_premature_aging1.54529371
22MP0003941_abnormal_skin_development1.53867377
23MP0002085_abnormal_embryonic_tissue1.49533158
24MP0002163_abnormal_gland_morphology1.46952319
25MP0009672_abnormal_birth_weight1.46654439
26MP0000313_abnormal_cell_death1.46577758
27MP0001873_stomach_inflammation1.44709732
28MP0003984_embryonic_growth_retardation1.44466626
29MP0001293_anophthalmia1.43460934
30MP0005501_abnormal_skin_physiology1.43274722
31MP0002080_prenatal_lethality1.42772976
32MP0002088_abnormal_embryonic_growth/wei1.38650518
33MP0002166_altered_tumor_susceptibility1.38192103
34MP0009053_abnormal_anal_canal1.36857950
35MP0003718_maternal_effect1.35153188
36MP0010307_abnormal_tumor_latency1.34870512
37MP0006292_abnormal_olfactory_placode1.30494602
38MP0000049_abnormal_middle_ear1.29406500
39MP0002019_abnormal_tumor_incidence1.28310791
40MP0000490_abnormal_crypts_of1.27777518
41MP0010352_gastrointestinal_tract_polyps1.26752212
42MP0001849_ear_inflammation1.24854908
43MP0003763_abnormal_thymus_physiology1.23662103
44MP0003315_abnormal_perineum_morphology1.23157831
45MP0002006_tumorigenesis1.22809812
46MP0009278_abnormal_bone_marrow1.20495492
47MP0002796_impaired_skin_barrier1.20203235
48MP0000703_abnormal_thymus_morphology1.19088900
49MP0006035_abnormal_mitochondrial_morpho1.18616985
50MP0009333_abnormal_splenocyte_physiolog1.17735242
51MP0002084_abnormal_developmental_patter1.17153194
52MP0004197_abnormal_fetal_growth/weight/1.16591396
53MP0002697_abnormal_eye_size1.14769378
54MP0003705_abnormal_hypodermis_morpholog1.11264330
55MP0004808_abnormal_hematopoietic_stem1.10406176
56MP0001346_abnormal_lacrimal_gland1.10216018
57MP0003937_abnormal_limbs/digits/tail_de1.09634373
58MP0003567_abnormal_fetal_cardiomyocyte1.05301974
59MP0002086_abnormal_extraembryonic_tissu1.02690815
60MP0002877_abnormal_melanocyte_morpholog1.02306392
61MP0003806_abnormal_nucleotide_metabolis1.01940079
62MP0001286_abnormal_eye_development1.01644229
63MP0002249_abnormal_larynx_morphology0.99373438
64MP0002938_white_spotting0.97180828
65MP0005075_abnormal_melanosome_morpholog0.95235980
66MP0000358_abnormal_cell_content/0.94999886
67MP0009379_abnormal_foot_pigmentation0.94914979
68MP0002111_abnormal_tail_morphology0.93970571
69MP0000678_abnormal_parathyroid_gland0.91876551
70MP0001661_extended_life_span0.91301513
71MP0000613_abnormal_salivary_gland0.85964252
72MP0004185_abnormal_adipocyte_glucose0.84173962
73MP0004233_abnormal_muscle_weight0.83818873
74MP0005220_abnormal_exocrine_pancreas0.83261913
75MP0003186_abnormal_redox_activity0.80984726
76MP0000627_abnormal_mammary_gland0.80315686
77MP0002092_abnormal_eye_morphology0.79551753
78MP0001881_abnormal_mammary_gland0.77097607
79MP0003123_paternal_imprinting0.77024140
80MP0001145_abnormal_male_reproductive0.76023805
81MP0000428_abnormal_craniofacial_morphol0.75681538
82MP0002210_abnormal_sex_determination0.75412426
83MP0002398_abnormal_bone_marrow0.75346050
84MP0000377_abnormal_hair_follicle0.73284799
85MP0002932_abnormal_joint_morphology0.73274388
86MP0005379_endocrine/exocrine_gland_phen0.73021592
87MP0003119_abnormal_digestive_system0.72830828
88MP0002098_abnormal_vibrissa_morphology0.71638948
89MP0001853_heart_inflammation0.71308496
90MP0002722_abnormal_immune_system0.70589858
91MP0008877_abnormal_DNA_methylation0.69874985
92MP0009250_abnormal_appendicular_skeleto0.69724322
93MP0005076_abnormal_cell_differentiation0.68452951
94MP0000762_abnormal_tongue_morphology0.66274310
95MP0000685_abnormal_immune_system0.66170845
96MP0001216_abnormal_epidermal_layer0.66157228
97MP0000566_synostosis0.65146130
98MP0002160_abnormal_reproductive_system0.65010982
99MP0006036_abnormal_mitochondrial_physio0.64970977
100MP0002009_preneoplasia0.64711045

Predicted human phenotypes

RankGene SetZ-score
1Chromosomal breakage induced by crosslinking agents (HP:0003221)4.77063652
2Chromsome breakage (HP:0040012)4.19952245
3Reticulocytopenia (HP:0001896)3.79264996
4Abnormality of cells of the erythroid lineage (HP:0012130)3.19040741
5Abnormal number of erythroid precursors (HP:0012131)3.12161517
6Meckel diverticulum (HP:0002245)3.09009620
7Abnormality of the preputium (HP:0100587)2.97719159
8Abnormality of the ileum (HP:0001549)2.93180362
9Microvesicular hepatic steatosis (HP:0001414)2.91345380
10Squamous cell carcinoma (HP:0002860)2.85798575
11Selective tooth agenesis (HP:0001592)2.85511435
12Aplasia/Hypoplasia of the uvula (HP:0010293)2.74079460
13Aplasia/Hypoplasia of the sacrum (HP:0008517)2.70023552
14Unilateral renal agenesis (HP:0000122)2.57799259
15Panhypogammaglobulinemia (HP:0003139)2.55759271
16Abnormality of DNA repair (HP:0003254)2.48975728
17Absent thumb (HP:0009777)2.41286991
18Ectopic kidney (HP:0000086)2.40457013
19Abnormal lung lobation (HP:0002101)2.40004878
20Birth length less than 3rd percentile (HP:0003561)2.39320174
21Abnormality of chromosome stability (HP:0003220)2.38751185
22Cleft eyelid (HP:0000625)2.32981847
23High anterior hairline (HP:0009890)2.32323641
24Duodenal stenosis (HP:0100867)2.31947257
25Small intestinal stenosis (HP:0012848)2.31947257
26Multiple enchondromatosis (HP:0005701)2.29347566
27Poikiloderma (HP:0001029)2.29334614
28Abnormal number of incisors (HP:0011064)2.26664632
29Abnormality of the carotid arteries (HP:0005344)2.25433222
30Microretrognathia (HP:0000308)2.23205434
31Lipid accumulation in hepatocytes (HP:0006561)2.21191869
32Hepatocellular necrosis (HP:0001404)2.20593409
33Horseshoe kidney (HP:0000085)2.15401354
34Ependymoma (HP:0002888)2.14248971
35Increased hepatocellular lipid droplets (HP:0006565)2.13938634
36Bilateral microphthalmos (HP:0007633)2.10772552
37Short thumb (HP:0009778)2.10762654
38* Colon cancer (HP:0003003)2.10741787
39Abnormality of the umbilical cord (HP:0010881)2.10161364
40Triphalangeal thumb (HP:0001199)2.08161326
41High pitched voice (HP:0001620)2.06869920
42Rough bone trabeculation (HP:0100670)2.06209057
43Spastic diplegia (HP:0001264)2.03229125
44Increased nuchal translucency (HP:0010880)2.01796938
45Acute lymphatic leukemia (HP:0006721)2.00394902
46Patellar aplasia (HP:0006443)1.97526590
47Increased serum lactate (HP:0002151)1.96021678
48Abnormality of the duodenum (HP:0002246)1.94132751
49Abnormality of the parathyroid morphology (HP:0011766)1.93525085
50* Myelodysplasia (HP:0002863)1.93261415
51Pancytopenia (HP:0001876)1.93161664
52Clubbing of toes (HP:0100760)1.92664324
53Pallor (HP:0000980)1.91963530
54Sloping forehead (HP:0000340)1.91668761
55Optic nerve coloboma (HP:0000588)1.90827420
56Mitochondrial inheritance (HP:0001427)1.90718663
57Increased CSF lactate (HP:0002490)1.90106818
58Aplasia/Hypoplasia of the patella (HP:0006498)1.90092042
59Type I transferrin isoform profile (HP:0003642)1.89036393
60Abnormality of the fetal cardiovascular system (HP:0010948)1.88309584
61Abnormal umbilical cord blood vessels (HP:0011403)1.88309584
62Single umbilical artery (HP:0001195)1.88309584
63Progressive muscle weakness (HP:0003323)1.87588464
64Entropion (HP:0000621)1.85792968
65Abnormal glycosylation (HP:0012345)1.84821529
66Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.84821529
67Abnormal protein N-linked glycosylation (HP:0012347)1.84821529
68Abnormal protein glycosylation (HP:0012346)1.84821529
69Absent radius (HP:0003974)1.78895409
70Macrocytic anemia (HP:0001972)1.78796117
71* Nephroblastoma (Wilms tumor) (HP:0002667)1.78623123
72Atresia of the external auditory canal (HP:0000413)1.77182571
73Breast hypoplasia (HP:0003187)1.76821257
74Proximal placement of thumb (HP:0009623)1.76276632
75Acute encephalopathy (HP:0006846)1.76246768
76Hepatic necrosis (HP:0002605)1.75155253
77Hyperacusis (HP:0010780)1.74903645
78Pendular nystagmus (HP:0012043)1.73954414
79Abnormality of chromosome segregation (HP:0002916)1.73871184
80Renal agenesis (HP:0000104)1.73062731
81Broad distal phalanx of finger (HP:0009836)1.72541859
82Abnormality of the columella (HP:0009929)1.71170430
83Aplasia/Hypoplasia of the thymus (HP:0010515)1.70594654
84Capillary hemangiomas (HP:0005306)1.70593115
85Duplicated collecting system (HP:0000081)1.70417266
86B lymphocytopenia (HP:0010976)1.69448393
87Asymmetry of the thorax (HP:0001555)1.67899955
88Deviation of the thumb (HP:0009603)1.67476891
89Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)1.66654388
90Abnormality of the labia minora (HP:0012880)1.65335286
91Trismus (HP:0000211)1.65248338
92Agammaglobulinemia (HP:0004432)1.64953548
93Abnormal mitochondria in muscle tissue (HP:0008316)1.64851513
94Acute necrotizing encephalopathy (HP:0006965)1.64829381
95Hypoplasia of the capital femoral epiphysis (HP:0003090)1.64190446
96Tracheoesophageal fistula (HP:0002575)1.62787145
97Prominent metopic ridge (HP:0005487)1.61484760
98Congenital malformation of the right heart (HP:0011723)1.60846458
99Double outlet right ventricle (HP:0001719)1.60846458
100Sclerocornea (HP:0000647)1.59408184

Predicted kinase interactions (KEA)

RankGene SetZ-score
1* VRK25.16165089
2BUB14.41310976
3CDC73.93661677
4NME22.91325412
5EIF2AK12.39374162
6MAP3K102.37049190
7EEF2K2.34156891
8TTK2.27966206
9ZAK2.24274606
10RPS6KB22.24050194
11SRPK12.21514362
12WEE12.07242173
13BRSK21.86874505
14NEK11.85670609
15CDK121.80574174
16KDR1.78508250
17STK161.67536190
18BRSK11.65115160
19* CDK71.63556788
20PRKD31.63373635
21* VRK11.61645997
22* CHEK21.58678302
23MKNK11.58046767
24PBK1.56078176
25* ATR1.55998749
26TESK21.52818987
27EIF2AK31.47670317
28NEK21.45761326
29CDK81.42635113
30PLK41.39033080
31ICK1.35815627
32* SMG11.33227697
33TSSK61.31223107
34PLK11.29707236
35* PLK31.27989188
36PASK1.26816409
37IRAK31.23126049
38* AURKB1.23125269
39NME11.22816988
40TRIB31.22401060
41BCKDK1.21463708
42CDK41.20886186
43STK41.18718336
44MKNK21.14027123
45* CHEK11.11914060
46PAK41.09129538
47CAMK1D1.05437025
48* AURKA1.01866332
49SCYL20.90579163
50MAP4K10.89354588
51MAP3K80.83429337
52DYRK30.80361493
53EPHA20.79977118
54TLK10.79502674
55PIM20.78744965
56PRKCI0.78204136
57* ATM0.75256157
58CCNB10.72526552
59* CDK90.69869969
60MAPK110.68523880
61MST40.66747890
62ERN10.66406046
63LRRK20.65810224
64CAMK1G0.63877163
65* CDK20.62868826
66SIK10.58311946
67CDK60.58167100
68* CDK10.57223780
69* CSNK2A10.56352530
70BRD40.54308218
71* CSNK2A20.53183012
72FLT30.52437123
73* EIF2AK20.49927798
74TGFBR10.48695782
75ALK0.47881416
76RPS6KA50.47758445
77RPS6KA40.46913886
78IKBKB0.46659005
79BRAF0.46631066
80STK100.46425623
81MTOR0.45934311
82MAPKAPK30.43262923
83BMPR1B0.43181553
84TESK10.42958654
85MAP2K20.42515331
86CHUK0.38372542
87CDK190.35836102
88PTK60.35529530
89ILK0.35142475
90AKT20.34364833
91TRIM280.31950176
92GRK10.31885377
93FGFR40.30724363
94PAK10.29976213
95* PRKDC0.29584772
96FGFR20.28506010
97TIE10.27923210
98STK30.27458223
99LIMK10.24891830
100RPS6KC10.23814593

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030304.95665417
2Mismatch repair_Homo sapiens_hsa034303.83193064
3Base excision repair_Homo sapiens_hsa034103.57175435
4Ribosome_Homo sapiens_hsa030103.36134065
5Proteasome_Homo sapiens_hsa030503.22131439
6Homologous recombination_Homo sapiens_hsa034403.06291029
7Non-homologous end-joining_Homo sapiens_hsa034502.75636520
8Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.73242677
9Spliceosome_Homo sapiens_hsa030402.64644343
10One carbon pool by folate_Homo sapiens_hsa006702.58330585
11Nucleotide excision repair_Homo sapiens_hsa034202.50550815
12Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.47199573
13RNA polymerase_Homo sapiens_hsa030202.34477628
14Fanconi anemia pathway_Homo sapiens_hsa034602.31094739
15RNA transport_Homo sapiens_hsa030132.26005803
16* Cell cycle_Homo sapiens_hsa041102.11768752
17Pyrimidine metabolism_Homo sapiens_hsa002402.08765158
18Sulfur relay system_Homo sapiens_hsa041221.87278187
19Cysteine and methionine metabolism_Homo sapiens_hsa002701.77490096
20Biosynthesis of amino acids_Homo sapiens_hsa012301.57804956
21Basal transcription factors_Homo sapiens_hsa030221.43266446
22Primary immunodeficiency_Homo sapiens_hsa053401.40414251
23RNA degradation_Homo sapiens_hsa030181.37310881
24Selenocompound metabolism_Homo sapiens_hsa004501.32372810
25mRNA surveillance pathway_Homo sapiens_hsa030151.28789755
26Pentose phosphate pathway_Homo sapiens_hsa000301.28189530
27* p53 signaling pathway_Homo sapiens_hsa041151.27094868
282-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.17846111
29Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.15948830
30Cyanoamino acid metabolism_Homo sapiens_hsa004601.14507809
31Purine metabolism_Homo sapiens_hsa002301.13821677
32Vitamin B6 metabolism_Homo sapiens_hsa007501.09249687
33Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.08476322
34Carbon metabolism_Homo sapiens_hsa012001.05918653
35Systemic lupus erythematosus_Homo sapiens_hsa053221.04776211
36Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.00718350
37N-Glycan biosynthesis_Homo sapiens_hsa005100.98921056
38Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.93216348
39Fatty acid elongation_Homo sapiens_hsa000620.92280686
40Lysine degradation_Homo sapiens_hsa003100.91611940
41Glutathione metabolism_Homo sapiens_hsa004800.85733870
42Parkinsons disease_Homo sapiens_hsa050120.85167879
43* Epstein-Barr virus infection_Homo sapiens_hsa051690.84425206
44* Basal cell carcinoma_Homo sapiens_hsa052170.84227449
45Pyruvate metabolism_Homo sapiens_hsa006200.75667633
46Protein export_Homo sapiens_hsa030600.75134167
47* Viral carcinogenesis_Homo sapiens_hsa052030.74488189
48Oxidative phosphorylation_Homo sapiens_hsa001900.73092821
49Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.72487851
50Huntingtons disease_Homo sapiens_hsa050160.71915028
51Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.68286766
52* Herpes simplex infection_Homo sapiens_hsa051680.68084926
53Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.67638166
54* Thyroid cancer_Homo sapiens_hsa052160.67103270
55* HTLV-I infection_Homo sapiens_hsa051660.63620104
56Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.58603775
57Folate biosynthesis_Homo sapiens_hsa007900.58152833
58Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.57670799
59Notch signaling pathway_Homo sapiens_hsa043300.56390245
60Hedgehog signaling pathway_Homo sapiens_hsa043400.55932054
61Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.54057984
62Propanoate metabolism_Homo sapiens_hsa006400.53551679
63Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.50184805
64Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.50057873
65* MicroRNAs in cancer_Homo sapiens_hsa052060.49148721
66Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.47902791
67Metabolic pathways_Homo sapiens_hsa011000.46009976
68Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.44731983
69Alcoholism_Homo sapiens_hsa050340.44559256
70Hippo signaling pathway_Homo sapiens_hsa043900.44067568
71Fructose and mannose metabolism_Homo sapiens_hsa000510.41761363
72Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.40896573
73Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.40270475
74Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.39909594
75Sulfur metabolism_Homo sapiens_hsa009200.38805974
76Galactose metabolism_Homo sapiens_hsa000520.37946178
77Steroid biosynthesis_Homo sapiens_hsa001000.36904483
78* Bladder cancer_Homo sapiens_hsa052190.36710645
79* Colorectal cancer_Homo sapiens_hsa052100.35567162
80* Transcriptional misregulation in cancer_Homo sapiens_hsa052020.35422029
81Alzheimers disease_Homo sapiens_hsa050100.34743585
82* Chronic myeloid leukemia_Homo sapiens_hsa052200.34584600
83Antigen processing and presentation_Homo sapiens_hsa046120.34094511
84* Prostate cancer_Homo sapiens_hsa052150.32678642
85Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.32298367
86Oocyte meiosis_Homo sapiens_hsa041140.29436227
87Pentose and glucuronate interconversions_Homo sapiens_hsa000400.29264046
88* Wnt signaling pathway_Homo sapiens_hsa043100.29102994
89Fatty acid metabolism_Homo sapiens_hsa012120.27384273
90Vitamin digestion and absorption_Homo sapiens_hsa049770.27313174
91Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.26761413
92Intestinal immune network for IgA production_Homo sapiens_hsa046720.26220862
93* Central carbon metabolism in cancer_Homo sapiens_hsa052300.23415023
94* Melanoma_Homo sapiens_hsa052180.23068293
95* Small cell lung cancer_Homo sapiens_hsa052220.20760029
96Adherens junction_Homo sapiens_hsa045200.20528628
97* Apoptosis_Homo sapiens_hsa042100.20469749
98Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.20340107
99Drug metabolism - other enzymes_Homo sapiens_hsa009830.19463726
100Viral myocarditis_Homo sapiens_hsa054160.19120125

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