HPRT1

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: The protein encoded by this gene is a transferase, which catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. This enzyme plays a central role in the generation of purine nucleotides through the purine salvage pathway. Mutations in this gene result in Lesch-Nyhan syndrome or gout. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1proteasome assembly (GO:0043248)5.41556976
2mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.94480386
3telomere maintenance via semi-conservative replication (GO:0032201)4.39611881
4DNA strand elongation involved in DNA replication (GO:0006271)4.36338674
5ATP synthesis coupled proton transport (GO:0015986)4.31767598
6energy coupled proton transport, down electrochemical gradient (GO:0015985)4.31767598
7CENP-A containing nucleosome assembly (GO:0034080)4.28485842
8chromatin remodeling at centromere (GO:0031055)4.26114254
9DNA strand elongation (GO:0022616)4.24539562
10formation of translation preinitiation complex (GO:0001731)4.18542902
11regulation of mitochondrial translation (GO:0070129)4.17475871
12negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)4.14892972
13cullin deneddylation (GO:0010388)4.05215234
14anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.98533145
15regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.98009988
16DNA replication checkpoint (GO:0000076)3.96103052
17deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.94928190
18establishment of integrated proviral latency (GO:0075713)3.91375391
19ribosome assembly (GO:0042255)3.91315608
20positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.90448564
21telomere maintenance via recombination (GO:0000722)3.89810812
22chaperone-mediated protein transport (GO:0072321)3.85639689
23ribosomal large subunit biogenesis (GO:0042273)3.85247214
24negative regulation of ligase activity (GO:0051352)3.81655799
25negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.81655799
26nucleotide-excision repair, DNA gap filling (GO:0006297)3.79877664
27protein deneddylation (GO:0000338)3.77095192
28mitotic recombination (GO:0006312)3.65755275
29histone exchange (GO:0043486)3.58402510
30establishment of protein localization to mitochondrial membrane (GO:0090151)3.57466631
31mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.56555324
32respiratory electron transport chain (GO:0022904)3.53837143
33spliceosomal snRNP assembly (GO:0000387)3.53622370
34* purine nucleobase biosynthetic process (GO:0009113)3.52270276
35mitotic metaphase plate congression (GO:0007080)3.50786219
36synapsis (GO:0007129)3.50246180
37pyrimidine deoxyribonucleotide catabolic process (GO:0009223)3.46976750
38regulation of cellular amino acid metabolic process (GO:0006521)3.45989503
39positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.44282831
40electron transport chain (GO:0022900)3.42853808
41protein localization to kinetochore (GO:0034501)3.41447036
42protein targeting to mitochondrion (GO:0006626)3.41339330
43* nucleobase biosynthetic process (GO:0046112)3.37396451
44DNA replication-independent nucleosome organization (GO:0034724)3.36325359
45DNA replication-independent nucleosome assembly (GO:0006336)3.36325359
46pyrimidine deoxyribonucleotide metabolic process (GO:0009219)3.34908078
47rRNA modification (GO:0000154)3.34533865
48oxidative phosphorylation (GO:0006119)3.30392950
49DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.29521727
50DNA catabolic process, exonucleolytic (GO:0000738)3.29448191
51ribosomal small subunit assembly (GO:0000028)3.27803412
52signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.27697263
53signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.27697263
54signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.27697263
55rRNA processing (GO:0006364)3.26996362
56pseudouridine synthesis (GO:0001522)3.26740375
57signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.26718980
58intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.26718980
59protein neddylation (GO:0045116)3.25974531
60ribonucleoprotein complex biogenesis (GO:0022613)3.25871909
61DNA unwinding involved in DNA replication (GO:0006268)3.25442945
62positive regulation of ligase activity (GO:0051351)3.25438640
63exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.23705758
64mitotic sister chromatid segregation (GO:0000070)3.22634933
65transcription elongation from RNA polymerase III promoter (GO:0006385)3.21862007
66termination of RNA polymerase III transcription (GO:0006386)3.21862007
67signal transduction involved in DNA integrity checkpoint (GO:0072401)3.21425937
68signal transduction involved in DNA damage checkpoint (GO:0072422)3.21425937
69transcription from mitochondrial promoter (GO:0006390)3.20306739
70protein localization to mitochondrion (GO:0070585)3.20300250
71telomere maintenance via telomere lengthening (GO:0010833)3.19844263
72protein localization to chromosome, centromeric region (GO:0071459)3.19374134
73regulation of ubiquitin-protein transferase activity (GO:0051438)3.19181115
74mitochondrial respiratory chain complex assembly (GO:0033108)3.17866242
75ribosome biogenesis (GO:0042254)3.17393482
76signal transduction involved in cell cycle checkpoint (GO:0072395)3.14884987
77cell cycle G1/S phase transition (GO:0044843)3.14633143
78G1/S transition of mitotic cell cycle (GO:0000082)3.14633143
79deoxyribonucleotide biosynthetic process (GO:0009263)3.13454502
80nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.13008231
81rRNA metabolic process (GO:0016072)3.12174185
82establishment of protein localization to mitochondrion (GO:0072655)3.12134928
83translation (GO:0006412)3.11106702
84ribosomal small subunit biogenesis (GO:0042274)3.10000040
85DNA replication initiation (GO:0006270)3.09561483
86DNA ligation (GO:0006266)3.08684048
87* IMP biosynthetic process (GO:0006188)3.07946278
88cellular component biogenesis (GO:0044085)3.06183896
892-deoxyribonucleotide biosynthetic process (GO:0009265)3.05709011
90deoxyribose phosphate biosynthetic process (GO:0046385)3.05709011
91establishment of viral latency (GO:0019043)3.05623842
92protein complex biogenesis (GO:0070271)3.05011243
93regulation of ligase activity (GO:0051340)3.04327724
94double-strand break repair via nonhomologous end joining (GO:0006303)3.04265579
95non-recombinational repair (GO:0000726)3.04265579
96respiratory chain complex IV assembly (GO:0008535)3.04258267
97folic acid-containing compound biosynthetic process (GO:0009396)3.03923773
98nucleobase-containing small molecule interconversion (GO:0015949)3.02038601
99transcription-coupled nucleotide-excision repair (GO:0006283)2.99901413
100pteridine-containing compound biosynthetic process (GO:0042559)2.98843546

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human6.81811673
2KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human5.04530195
3MYC_18555785_ChIP-Seq_MESCs_Mouse4.48405454
4GABP_17652178_ChIP-ChIP_JURKAT_Human3.94084798
5EST1_17652178_ChIP-ChIP_JURKAT_Human3.76236460
6E2F4_17652178_ChIP-ChIP_JURKAT_Human3.70204033
7CREB1_15753290_ChIP-ChIP_HEK293T_Human3.65850961
8JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.58061114
9EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.54632983
10ETS1_20019798_ChIP-Seq_JURKAT_Human3.24622303
11HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.15689679
12NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.00134305
13MYC_18358816_ChIP-ChIP_MESCs_Mouse2.99567209
14CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.95264819
15FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.86033921
16MYC_19030024_ChIP-ChIP_MESCs_Mouse2.85640948
17MYC_19079543_ChIP-ChIP_MESCs_Mouse2.76904172
18DCP1A_22483619_ChIP-Seq_HELA_Human2.62244791
19PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse2.61200768
20THAP11_20581084_ChIP-Seq_MESCs_Mouse2.58777487
21VDR_23849224_ChIP-Seq_CD4+_Human2.58136205
22HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.55249566
23E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.49431649
24MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.48616821
25FOXM1_23109430_ChIP-Seq_U2OS_Human2.47746447
26MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.46958764
27ELF1_17652178_ChIP-ChIP_JURKAT_Human2.46641174
28FOXP3_21729870_ChIP-Seq_TREG_Human2.36597171
29NELFA_20434984_ChIP-Seq_ESCs_Mouse2.36245573
30E2F1_18555785_ChIP-Seq_MESCs_Mouse2.30244029
31ELK1_19687146_ChIP-ChIP_HELA_Human2.28719197
32TTF2_22483619_ChIP-Seq_HELA_Human2.23663847
33XRN2_22483619_ChIP-Seq_HELA_Human2.22389288
34FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse2.21932080
35GABP_19822575_ChIP-Seq_HepG2_Human2.14374314
36AR_21909140_ChIP-Seq_LNCAP_Human2.14237771
37PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.11938140
38SRF_21415370_ChIP-Seq_HL-1_Mouse1.98197107
39E2F1_21310950_ChIP-Seq_MCF-7_Human1.96259887
40SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.94505387
41POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.94333409
42MYCN_18555785_ChIP-Seq_MESCs_Mouse1.89477724
43HOXB4_20404135_ChIP-ChIP_EML_Mouse1.87945140
44YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.83334438
45ZFX_18555785_ChIP-Seq_MESCs_Mouse1.81717108
46ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.80063504
47PADI4_21655091_ChIP-ChIP_MCF-7_Human1.66117690
48KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.65902084
49YY1_21170310_ChIP-Seq_MESCs_Mouse1.56457521
50MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.50320524
51SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.46034727
52KDM5A_27292631_Chip-Seq_BREAST_Human1.41473822
53MYC_18940864_ChIP-ChIP_HL60_Human1.39094737
54POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.38524868
55E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.33492742
56CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.28721980
57ERG_20887958_ChIP-Seq_HPC-7_Mouse1.27221398
58PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.25063098
59TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.21034627
60NANOG_18555785_ChIP-Seq_MESCs_Mouse1.20064253
61CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.17236769
62CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.16437856
63BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.15370250
64ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.14341442
65ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.12412317
66FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.07578937
67HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.07216636
68SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.06424820
69CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.05967955
70CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human1.04318200
71TFEB_21752829_ChIP-Seq_HELA_Human1.02754046
72CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.98187117
73GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.96860110
74DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.95982756
75ZNF263_19887448_ChIP-Seq_K562_Human0.92004327
76EWS_26573619_Chip-Seq_HEK293_Human0.91331088
77FUS_26573619_Chip-Seq_HEK293_Human0.89971313
78CIITA_25753668_ChIP-Seq_RAJI_Human0.88708055
79ELK1_22589737_ChIP-Seq_MCF10A_Human0.88424337
80DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.88230697
81KLF4_18555785_ChIP-Seq_MESCs_Mouse0.86826857
82CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.86701762
83TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.86523977
84SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.85865657
85SOX17_20123909_ChIP-Seq_XEN_Mouse0.82224913
86CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.81121708
87TBX5_21415370_ChIP-Seq_HL-1_Mouse0.77574367
88KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.75591180
89CEBPB_24764292_ChIP-Seq_MC3T3_Mouse0.74510723
90ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.70460504
91HTT_18923047_ChIP-ChIP_STHdh_Human0.68949693
92CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.68764264
93ELF5_23300383_ChIP-Seq_T47D_Human0.65469958
94NOTCH1_21737748_ChIP-Seq_TLL_Human0.64750316
95CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.64468094
96PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse0.63658595
97STAT3_1855785_ChIP-Seq_MESCs_Mouse0.63174426
98* REST_19997604_ChIP-ChIP_NEURONS_Mouse0.60843067
99CTCF_18555785_ChIP-Seq_MESCs_Mouse0.60179827
100RBPJ_22232070_ChIP-Seq_NCS_Mouse0.58557721

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0010094_abnormal_chromosome_stability5.06487155
2MP0008058_abnormal_DNA_repair4.93704645
3MP0003693_abnormal_embryo_hatching4.58532967
4MP0004957_abnormal_blastocyst_morpholog3.88410486
5MP0003111_abnormal_nucleus_morphology3.78427974
6MP0008877_abnormal_DNA_methylation3.61825389
7MP0008057_abnormal_DNA_replication3.61022114
8MP0003077_abnormal_cell_cycle3.48801244
9MP0003806_abnormal_nucleotide_metabolis3.06607692
10MP0008007_abnormal_cellular_replicative2.76874199
11MP0006036_abnormal_mitochondrial_physio2.75844177
12MP0003718_maternal_effect2.75508738
13MP0008932_abnormal_embryonic_tissue2.70684030
14MP0009697_abnormal_copulation2.65101759
15MP0003786_premature_aging2.64135937
16MP0003123_paternal_imprinting2.53831014
17MP0006035_abnormal_mitochondrial_morpho2.35491882
18MP0003186_abnormal_redox_activity2.17400164
19MP0008995_early_reproductive_senescence1.99625384
20MP0002160_abnormal_reproductive_system1.97133777
21MP0002210_abnormal_sex_determination1.75709221
22MP0000350_abnormal_cell_proliferation1.75502610
23MP0002163_abnormal_gland_morphology1.70899009
24MP0001730_embryonic_growth_arrest1.69456977
25MP0000358_abnormal_cell_content/1.60856896
26MP0001529_abnormal_vocalization1.59457536
27MP0001929_abnormal_gametogenesis1.58444519
28MP0000372_irregular_coat_pigmentation1.44097976
29MP0001145_abnormal_male_reproductive1.43949795
30MP0003315_abnormal_perineum_morphology1.41175111
31MP0001188_hyperpigmentation1.40703285
32MP0004147_increased_porphyrin_level1.37593534
33MP0000653_abnormal_sex_gland1.36435045
34MP0000313_abnormal_cell_death1.34402594
35MP0009046_muscle_twitch1.33190335
36MP0001697_abnormal_embryo_size1.32036224
37MP0003121_genomic_imprinting1.28109354
38MP0003880_abnormal_central_pattern1.27431719
39MP0005389_reproductive_system_phenotype1.26812191
40MP0001764_abnormal_homeostasis1.25422909
41MP0006292_abnormal_olfactory_placode1.21158080
42MP0002080_prenatal_lethality1.13512692
43MP0005380_embryogenesis_phenotype1.08373660
44MP0001672_abnormal_embryogenesis/_devel1.08373660
45MP0003698_abnormal_male_reproductive1.08308968
46MP0006072_abnormal_retinal_apoptosis1.07466481
47MP0009379_abnormal_foot_pigmentation1.05778661
48MP0005379_endocrine/exocrine_gland_phen1.02788718
49MP0002019_abnormal_tumor_incidence1.00102980
50MP0003567_abnormal_fetal_cardiomyocyte0.99365755
51MP0002102_abnormal_ear_morphology0.99151775
52MP0002938_white_spotting0.96401605
53MP0002736_abnormal_nociception_after0.95145465
54MP0005410_abnormal_fertilization0.93057036
55MP0010307_abnormal_tumor_latency0.89656432
56MP0002877_abnormal_melanocyte_morpholog0.88514145
57MP0002837_dystrophic_cardiac_calcinosis0.88332037
58MP0002161_abnormal_fertility/fecundity0.86172997
59MP0001119_abnormal_female_reproductive0.86019133
60MP0005645_abnormal_hypothalamus_physiol0.85838912
61MP0004215_abnormal_myocardial_fiber0.84535059
62MP0008789_abnormal_olfactory_epithelium0.84247587
63MP0001919_abnormal_reproductive_system0.83998599
64MP0002090_abnormal_vision0.83799873
65MP0002234_abnormal_pharynx_morphology0.83137667
66MP0002132_abnormal_respiratory_system0.82298338
67MP0005075_abnormal_melanosome_morpholog0.81322832
68MP0003984_embryonic_growth_retardation0.79544481
69MP0002396_abnormal_hematopoietic_system0.78475591
70MP0005646_abnormal_pituitary_gland0.76675322
71MP0002088_abnormal_embryonic_growth/wei0.75286434
72MP0009672_abnormal_birth_weight0.74324510
73MP0001727_abnormal_embryo_implantation0.72620931
74MP0002085_abnormal_embryonic_tissue0.72508020
75MP0005084_abnormal_gallbladder_morpholo0.72103427
76MP0000516_abnormal_urinary_system0.71575654
77MP0005367_renal/urinary_system_phenotyp0.71575654
78MP0005384_cellular_phenotype0.71529260
79MP0005266_abnormal_metabolism0.71161063
80MP0002084_abnormal_developmental_patter0.70493164
81MP0001905_abnormal_dopamine_level0.70461658
82MP0001853_heart_inflammation0.69957405
83MP0001661_extended_life_span0.69313824
84MP0001346_abnormal_lacrimal_gland0.68720579
85MP0001293_anophthalmia0.67749525
86MP0003699_abnormal_female_reproductive0.66538400
87MP0003656_abnormal_erythrocyte_physiolo0.65790079
88MP0005332_abnormal_amino_acid0.65491409
89MP0005394_taste/olfaction_phenotype0.63820227
90MP0005499_abnormal_olfactory_system0.63820227
91MP0003221_abnormal_cardiomyocyte_apopto0.63446043
92MP0009333_abnormal_splenocyte_physiolog0.62836723
93MP0000678_abnormal_parathyroid_gland0.62592768
94MP0000490_abnormal_crypts_of0.62527074
95MP0008873_increased_physiological_sensi0.61332035
96MP0001968_abnormal_touch/_nociception0.61143931
97MP0008875_abnormal_xenobiotic_pharmacok0.60488143
98MP0005395_other_phenotype0.60314647
99MP0005636_abnormal_mineral_homeostasis0.60080214
100MP0001984_abnormal_olfaction0.56966300

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)4.72421678
2Abnormal mitochondria in muscle tissue (HP:0008316)4.47860874
3Acute encephalopathy (HP:0006846)4.23611493
4Mitochondrial inheritance (HP:0001427)4.06542566
5Increased CSF lactate (HP:0002490)4.05512982
6Increased hepatocellular lipid droplets (HP:0006565)3.90082219
7Progressive macrocephaly (HP:0004481)3.89157224
8Decreased activity of mitochondrial respiratory chain (HP:0008972)3.67792661
9Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.67792661
10Hepatocellular necrosis (HP:0001404)3.64543328
11Hepatic necrosis (HP:0002605)3.62168793
12Increased serum pyruvate (HP:0003542)3.60160540
13Abnormality of glycolysis (HP:0004366)3.56359259
14Abnormality of the anterior horn cell (HP:0006802)3.52003576
15Degeneration of anterior horn cells (HP:0002398)3.52003576
16Chromosomal breakage induced by crosslinking agents (HP:0003221)3.42764408
17Chromsome breakage (HP:0040012)3.39963170
18Lipid accumulation in hepatocytes (HP:0006561)3.39180875
19Increased serum lactate (HP:0002151)3.25621285
20Microvesicular hepatic steatosis (HP:0001414)3.22284996
213-Methylglutaconic aciduria (HP:0003535)3.21492648
22Cerebral edema (HP:0002181)3.20823423
23Renal Fanconi syndrome (HP:0001994)3.08193757
24Type I transferrin isoform profile (HP:0003642)3.03661744
25Lactic acidosis (HP:0003128)3.02123203
26Cerebral hypomyelination (HP:0006808)2.85377138
27Increased intramyocellular lipid droplets (HP:0012240)2.84370276
28Volvulus (HP:0002580)2.78307271
29Abnormal protein glycosylation (HP:0012346)2.68968563
30Abnormal glycosylation (HP:0012345)2.68968563
31Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.68968563
32Abnormal protein N-linked glycosylation (HP:0012347)2.68968563
33Reticulocytopenia (HP:0001896)2.67180540
34Exercise intolerance (HP:0003546)2.64777123
35Abnormality of the preputium (HP:0100587)2.64370567
36Respiratory failure (HP:0002878)2.63514062
37Abnormality of chromosome stability (HP:0003220)2.59647133
38Methylmalonic acidemia (HP:0002912)2.55338057
39Meckel diverticulum (HP:0002245)2.55061068
40Birth length less than 3rd percentile (HP:0003561)2.50223457
41Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.46301698
42Pancytopenia (HP:0001876)2.44572181
43* Macrocytic anemia (HP:0001972)2.43345905
44Aplastic anemia (HP:0001915)2.42025037
45Respiratory difficulties (HP:0002880)2.39407227
46Aplasia/Hypoplasia of the uvula (HP:0010293)2.39267884
47Leukodystrophy (HP:0002415)2.37095808
48Abnormality of the ileum (HP:0001549)2.36995099
49Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.33772036
50Abnormality of alanine metabolism (HP:0010916)2.33772036
51Hyperalaninemia (HP:0003348)2.33772036
52Small intestinal stenosis (HP:0012848)2.33309645
53Duodenal stenosis (HP:0100867)2.33309645
54Reduced antithrombin III activity (HP:0001976)2.33104460
55Exertional dyspnea (HP:0002875)2.30276160
56Atrophy/Degeneration involving motor neurons (HP:0007373)2.19411952
57Degeneration of the lateral corticospinal tracts (HP:0002314)2.18477261
58Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.18477261
59Increased muscle lipid content (HP:0009058)2.16709363
60Abnormal lung lobation (HP:0002101)2.16402257
61Abnormality of methionine metabolism (HP:0010901)2.14876362
62Abnormality of cells of the erythroid lineage (HP:0012130)2.13121572
63Methylmalonic aciduria (HP:0012120)2.12779565
64Myelodysplasia (HP:0002863)2.11658115
65Abnormal number of erythroid precursors (HP:0012131)2.11031262
66Lethargy (HP:0001254)2.09491414
67Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.08994579
68Hypokinesia (HP:0002375)2.05800191
69Aplasia/Hypoplasia of the sacrum (HP:0008517)2.02147862
70Generalized aminoaciduria (HP:0002909)1.95947062
71Hyperglycinemia (HP:0002154)1.94644481
72Abnormality of the labia minora (HP:0012880)1.92428544
73CNS demyelination (HP:0007305)1.92149538
74Emotional lability (HP:0000712)1.91795940
75Cholecystitis (HP:0001082)1.91614001
76Abnormal gallbladder physiology (HP:0012438)1.91614001
77Cleft eyelid (HP:0000625)1.90493962
78Optic disc pallor (HP:0000543)1.90250378
79CNS hypomyelination (HP:0003429)1.88252907
80Triphalangeal thumb (HP:0001199)1.87510177
81Abnormality of renal resorption (HP:0011038)1.86520651
82Hypoglycemic coma (HP:0001325)1.86506797
83Sparse eyelashes (HP:0000653)1.86178270
84Abnormality of the duodenum (HP:0002246)1.84832180
85Abnormality of serum amino acid levels (HP:0003112)1.83909766
86Increased nuchal translucency (HP:0010880)1.83876106
87Progressive muscle weakness (HP:0003323)1.83752806
88Pallor (HP:0000980)1.83114909
89Postnatal microcephaly (HP:0005484)1.83041796
90Nausea (HP:0002018)1.80307009
91Multiple enchondromatosis (HP:0005701)1.80049653
92Horseshoe kidney (HP:0000085)1.79227964
93Rough bone trabeculation (HP:0100670)1.78791432
94X-linked dominant inheritance (HP:0001423)1.77204784
95Short middle phalanx of the 5th finger (HP:0004220)1.74934034
96Microretrognathia (HP:0000308)1.72588679
97Sensory axonal neuropathy (HP:0003390)1.71604653
98Abnormality of dicarboxylic acid metabolism (HP:0010995)1.67154678
99Dicarboxylic aciduria (HP:0003215)1.67154678
100Glycosuria (HP:0003076)1.65363938

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB14.82825586
2NEK13.77814453
3CDC73.30705523
4NME23.26195931
5EIF2AK13.15561687
6SRPK13.09867295
7VRK23.09640580
8TTK2.74999174
9PBK2.42000413
10EIF2AK32.29462966
11TSSK62.21353759
12STK162.20491524
13WEE12.15822015
14PLK42.15531912
15PLK32.02979124
16MST41.86053361
17TRIM281.78562622
18PLK11.77511421
19ZAK1.64231124
20CDK191.61896193
21VRK11.61535128
22SCYL21.59515760
23MKNK11.48471140
24BRSK11.44739123
25PDK21.43834126
26PNCK1.42290151
27CHEK21.34623141
28BCKDK1.33935206
29CCNB11.33625934
30BRSK21.33503942
31DAPK11.31423558
32ATR1.27675306
33MAP3K121.26425230
34NUAK11.24446708
35NME11.19513146
36AURKB1.14704665
37AURKA1.11798406
38PASK1.08811583
39MAP4K21.07042783
40ARAF1.04999838
41BRAF1.03934553
42CSNK1G31.01028058
43OXSR10.93505785
44EIF2AK20.93433522
45RPS6KA40.90285702
46MKNK20.88469691
47PLK20.87226367
48TAF10.87133725
49CHEK10.86359275
50STK390.83862753
51CSNK1G20.82369577
52CDK70.81141369
53CSNK1G10.80441350
54CSNK1A1L0.79940067
55BMPR20.79535065
56ATM0.77476456
57LIMK10.76066008
58MINK10.74584485
59CSNK2A20.74546149
60CSNK2A10.72810059
61MAP3K90.70523771
62PIM20.69219997
63ALK0.69132022
64BCR0.68770595
65STK40.63954120
66ERBB30.59988498
67WNK40.59442508
68CDK140.58347665
69CDK80.56209791
70TAOK20.56098012
71TESK20.55652773
72MAP3K80.55465073
73NEK20.55176347
74CDK11A0.52817892
75CDK180.52497130
76DYRK20.51967409
77CLK10.50787313
78CDK40.50523848
79MAPKAPK50.50060510
80PAK10.49075513
81WNK30.48625728
82MAP2K70.48580257
83TESK10.48298239
84CDK150.47386880
85ABL20.47378069
86RPS6KB20.47045074
87CDK20.46348505
88CSNK1E0.45898181
89CDK10.44805845
90CDK30.40626048
91BMPR1B0.38684558
92RPS6KA50.38450749
93PRKCI0.36086059
94CDK90.35780699
95RAF10.33539614
96EPHA40.30599545
97MAP3K50.30478969
98IRAK30.30006868
99KDR0.29808430
100PRKDC0.25490738

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030504.44772535
2DNA replication_Homo sapiens_hsa030304.22081103
3Mismatch repair_Homo sapiens_hsa034303.76804810
4Ribosome_Homo sapiens_hsa030103.40801495
5Oxidative phosphorylation_Homo sapiens_hsa001903.15241374
6Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.05156062
7Homologous recombination_Homo sapiens_hsa034402.84589570
8Base excision repair_Homo sapiens_hsa034102.82591757
9Parkinsons disease_Homo sapiens_hsa050122.82386382
10Protein export_Homo sapiens_hsa030602.55692544
11RNA polymerase_Homo sapiens_hsa030202.54085843
12Spliceosome_Homo sapiens_hsa030402.52301474
13Nucleotide excision repair_Homo sapiens_hsa034202.35436795
14RNA transport_Homo sapiens_hsa030132.27159020
15Non-homologous end-joining_Homo sapiens_hsa034502.20869393
16Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.14346733
17One carbon pool by folate_Homo sapiens_hsa006702.08888579
18Fanconi anemia pathway_Homo sapiens_hsa034602.07771156
19Pyrimidine metabolism_Homo sapiens_hsa002402.07383985
20Huntingtons disease_Homo sapiens_hsa050161.99351234
21RNA degradation_Homo sapiens_hsa030181.88727976
22Cell cycle_Homo sapiens_hsa041101.82186777
23Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.76499487
24Alzheimers disease_Homo sapiens_hsa050101.74546879
25Basal transcription factors_Homo sapiens_hsa030221.61204474
26Fatty acid elongation_Homo sapiens_hsa000621.55969086
27Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.49344176
28Folate biosynthesis_Homo sapiens_hsa007901.43368661
29Cysteine and methionine metabolism_Homo sapiens_hsa002701.36656300
30* Purine metabolism_Homo sapiens_hsa002301.33009085
31Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.30924915
32Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.25382957
33Pyruvate metabolism_Homo sapiens_hsa006201.24100734
34Propanoate metabolism_Homo sapiens_hsa006401.23891621
352-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.18140071
36Oocyte meiosis_Homo sapiens_hsa041141.12081111
37Carbon metabolism_Homo sapiens_hsa012001.08820972
38Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.08475404
39mRNA surveillance pathway_Homo sapiens_hsa030151.08206071
40Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.98189234
41Biosynthesis of amino acids_Homo sapiens_hsa012300.95365770
42Vitamin B6 metabolism_Homo sapiens_hsa007500.93233392
43Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.86267923
44Glutathione metabolism_Homo sapiens_hsa004800.84927838
45Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.83862960
46Cardiac muscle contraction_Homo sapiens_hsa042600.83158723
47Sulfur relay system_Homo sapiens_hsa041220.82743136
48Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.81435702
49Sulfur metabolism_Homo sapiens_hsa009200.72504417
50Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.71825809
51Collecting duct acid secretion_Homo sapiens_hsa049660.70617662
52Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.70352586
53* Metabolic pathways_Homo sapiens_hsa011000.69956218
54Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.69727329
55N-Glycan biosynthesis_Homo sapiens_hsa005100.68405506
56SNARE interactions in vesicular transport_Homo sapiens_hsa041300.60896051
57p53 signaling pathway_Homo sapiens_hsa041150.60442141
58Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.59535839
59Pentose phosphate pathway_Homo sapiens_hsa000300.58768032
60Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.56089156
61Selenocompound metabolism_Homo sapiens_hsa004500.54764629
62Steroid biosynthesis_Homo sapiens_hsa001000.54494912
63Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.53505349
64Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.53063839
65Regulation of autophagy_Homo sapiens_hsa041400.50779517
66* Drug metabolism - other enzymes_Homo sapiens_hsa009830.48999794
67Butanoate metabolism_Homo sapiens_hsa006500.44831173
68Synaptic vesicle cycle_Homo sapiens_hsa047210.44772218
69Epstein-Barr virus infection_Homo sapiens_hsa051690.44720081
70Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.42917732
71Arginine and proline metabolism_Homo sapiens_hsa003300.40465306
72Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.39380707
73Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.36771383
74Caffeine metabolism_Homo sapiens_hsa002320.34730825
75Vibrio cholerae infection_Homo sapiens_hsa051100.34601843
76Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.33721003
77Fatty acid metabolism_Homo sapiens_hsa012120.33624581
78Peroxisome_Homo sapiens_hsa041460.30509958
79Nicotine addiction_Homo sapiens_hsa050330.25971971
80Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.25509047
81Pentose and glucuronate interconversions_Homo sapiens_hsa000400.24817745
82Fructose and mannose metabolism_Homo sapiens_hsa000510.24088207
83Phototransduction_Homo sapiens_hsa047440.17191998
84Galactose metabolism_Homo sapiens_hsa000520.16086013
85Legionellosis_Homo sapiens_hsa051340.11917258
86Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.11431275
87beta-Alanine metabolism_Homo sapiens_hsa004100.07477433
88Olfactory transduction_Homo sapiens_hsa047400.07307436
89Phenylalanine metabolism_Homo sapiens_hsa003600.06581291
90Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.05527146
91Herpes simplex infection_Homo sapiens_hsa051680.04072994
92Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.03566028
93Arginine biosynthesis_Homo sapiens_hsa002200.02848456
94Tyrosine metabolism_Homo sapiens_hsa003500.02072438
95Shigellosis_Homo sapiens_hsa051310.00789452
96Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601-0.0650092
97Vitamin digestion and absorption_Homo sapiens_hsa04977-0.0526353
98Antigen processing and presentation_Homo sapiens_hsa04612-0.0476021
99Tryptophan metabolism_Homo sapiens_hsa00380-0.0464734
100Fatty acid degradation_Homo sapiens_hsa00071-0.0313000

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