UPRT

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 uracil phosphoribosyltransferase, which catalyzes the conversion of uracil and 5-phosphoribosyl-1-R-diphosphate to uridine monophosphate (UMP). This reaction is an important part of nucleotide metabolism, specifically the pyrimidine salvage pathway. The enzyme localizes to the nucleus and cytoplasm. The protein is a potential target for rational design of drugs to treat parasitic infections and cancer. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)6.52351431
2regulation of tyrosine phosphorylation of Stat5 protein (GO:0042522)5.80739232
3regulation of regulatory T cell differentiation (GO:0045589)5.27776511
4establishment of integrated proviral latency (GO:0075713)5.00968031
5negative regulation of B cell apoptotic process (GO:0002903)4.99481794
6protein neddylation (GO:0045116)4.94135649
7antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.90020201
8positive regulation of interleukin-17 production (GO:0032740)4.85818325
9mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.75030042
10regulation of immunoglobulin secretion (GO:0051023)4.60226852
11DNA double-strand break processing (GO:0000729)4.51039099
12regulation of isotype switching to IgG isotypes (GO:0048302)4.48672561
13negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)4.46998234
14proteasome assembly (GO:0043248)4.41172451
15positive regulation by symbiont of host defense response (GO:0052509)4.38716581
16modulation by symbiont of host defense response (GO:0052031)4.38716581
17modulation by organism of immune response of other organism involved in symbiotic interaction (GO:004.38716581
18modulation by organism of defense response of other organism involved in symbiotic interaction (GO:04.38716581
19positive regulation by organism of defense response of other organism involved in symbiotic interact4.38716581
20modulation by symbiont of host immune response (GO:0052553)4.38716581
21chaperone-mediated protein transport (GO:0072321)4.32282616
22L-methionine biosynthetic process from methylthioadenosine (GO:0019509)4.26411563
23regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)4.14153287
24exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 4.04408097
25negative regulation of ubiquitin-protein transferase activity (GO:0051444)4.04000239
26negative regulation of ligase activity (GO:0051352)4.04000239
27establishment of protein localization to mitochondrial membrane (GO:0090151)4.03983986
28positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)4.03539339
29establishment of viral latency (GO:0019043)4.02764282
30nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.99119600
31protein deneddylation (GO:0000338)3.98759289
32energy coupled proton transport, down electrochemical gradient (GO:0015985)3.91484651
33ATP synthesis coupled proton transport (GO:0015986)3.91484651
34DNA damage response, detection of DNA damage (GO:0042769)3.85035984
35cullin deneddylation (GO:0010388)3.78627374
36positive regulation of isotype switching (GO:0045830)3.78360335
37anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.76123914
38signal peptide processing (GO:0006465)3.66606589
39positive regulation of DNA recombination (GO:0045911)3.63309252
40termination of RNA polymerase III transcription (GO:0006386)3.53429038
41transcription elongation from RNA polymerase III promoter (GO:0006385)3.53429038
42mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.52979535
43ribosome assembly (GO:0042255)3.47371205
44regulation of cellular amino acid metabolic process (GO:0006521)3.46701668
45positive regulation of interferon-alpha production (GO:0032727)3.45646210
46positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.44197194
47DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.41868276
48regulation of dendritic cell antigen processing and presentation (GO:0002604)3.40823511
49respiratory chain complex IV assembly (GO:0008535)3.39728760
50regulation of B cell apoptotic process (GO:0002902)3.39433005
51response to host immune response (GO:0052572)3.39257446
52response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.39257446
53amino acid salvage (GO:0043102)3.36776326
54L-methionine salvage (GO:0071267)3.36776326
55L-methionine biosynthetic process (GO:0071265)3.36776326
56intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.36218820
57signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.36218820
58signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.35532236
59signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.35532236
60signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.35532236
61mitotic metaphase plate congression (GO:0007080)3.34689932
62DNA catabolic process, exonucleolytic (GO:0000738)3.32636006
63detection of molecule of bacterial origin (GO:0032490)3.31895966
64regulation of interferon-beta biosynthetic process (GO:0045357)3.31700262
65DNA deamination (GO:0045006)3.29528263
66positive regulation of gamma-delta T cell activation (GO:0046645)3.29082005
67positive regulation of ligase activity (GO:0051351)3.27232518
68positive regulation of cellular amide metabolic process (GO:0034250)3.26018371
69folic acid-containing compound biosynthetic process (GO:0009396)3.25470331
70regulation of interferon-alpha production (GO:0032647)3.23627509
71protein complex biogenesis (GO:0070271)3.22148619
72regulation of ubiquitin-protein transferase activity (GO:0051438)3.19003227
73signal transduction involved in DNA damage checkpoint (GO:0072422)3.17764585
74signal transduction involved in DNA integrity checkpoint (GO:0072401)3.17764585
75respiratory electron transport chain (GO:0022904)3.16793068
76response to host (GO:0075136)3.15092884
77response to host defenses (GO:0052200)3.15092884
78response to defenses of other organism involved in symbiotic interaction (GO:0052173)3.15092884
79GTP biosynthetic process (GO:0006183)3.15079837
80signal transduction involved in cell cycle checkpoint (GO:0072395)3.13756208
81daunorubicin metabolic process (GO:0044597)3.13076695
82polyketide metabolic process (GO:0030638)3.13076695
83doxorubicin metabolic process (GO:0044598)3.13076695
84regulation of B cell receptor signaling pathway (GO:0050855)3.11227077
85electron transport chain (GO:0022900)3.10463341
86neutrophil activation involved in immune response (GO:0002283)3.09379782
87response to peptidoglycan (GO:0032494)3.08930355
88positive regulation of antigen processing and presentation (GO:0002579)3.07180420
89regulation of interleukin-12 biosynthetic process (GO:0045075)3.07150581
90protein localization to kinetochore (GO:0034501)3.06343899
91regulation of ligase activity (GO:0051340)3.05752613
92B cell homeostasis (GO:0001782)3.04302839
93negative regulation of mast cell activation (GO:0033004)3.01614459
94cytochrome complex assembly (GO:0017004)3.00864728
95pteridine-containing compound biosynthetic process (GO:0042559)3.00463088
96CENP-A containing nucleosome assembly (GO:0034080)2.99867978
97mitochondrial respiratory chain complex assembly (GO:0033108)2.99394923
98regulation of helicase activity (GO:0051095)2.99310639
99negative regulation of B cell proliferation (GO:0030889)2.96560221
100positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)2.94622716
101mitochondrial respiratory chain complex I assembly (GO:0032981)2.93222172
102NADH dehydrogenase complex assembly (GO:0010257)2.93222172
103mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.93222172
104chromatin remodeling at centromere (GO:0031055)2.92782991
105DNA ligation (GO:0006266)2.92306877
106rRNA modification (GO:0000154)2.91096700
1077-methylguanosine mRNA capping (GO:0006370)2.90264859
108regulation of cilium movement (GO:0003352)2.89373010
109negative regulation of protein ubiquitination (GO:0031397)2.88598534
110dendritic cell chemotaxis (GO:0002407)2.88374300
111protein targeting to mitochondrion (GO:0006626)2.87686808
112somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)2.86596304
113somatic diversification of immunoglobulins involved in immune response (GO:0002208)2.86596304
114isotype switching (GO:0045190)2.86596304
115single strand break repair (GO:0000012)2.86461796
116macrophage activation involved in immune response (GO:0002281)2.85896190
117cellular extravasation (GO:0045123)2.85469280
118positive regulation of interleukin-12 production (GO:0032735)2.84901655
119protein localization to mitochondrion (GO:0070585)2.83684498
120histone mRNA metabolic process (GO:0008334)2.81263627
121RNA capping (GO:0036260)2.80960674
1227-methylguanosine RNA capping (GO:0009452)2.80960674
123positive regulation of natural killer cell differentiation (GO:0032825)2.80247597
124regulation of T-helper 1 cell differentiation (GO:0045625)2.79429507
125leukocyte aggregation (GO:0070486)2.76570351
126negative regulation of mitotic metaphase/anaphase transition (GO:0045841)2.75485415
127negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)2.75485415
128negative regulation of mitotic sister chromatid segregation (GO:0033048)2.75485415
129negative regulation of mitotic sister chromatid separation (GO:2000816)2.75485415
130negative regulation of sister chromatid segregation (GO:0033046)2.75485415
131neutrophil activation (GO:0042119)2.75197578
132metaphase plate congression (GO:0051310)2.73639223
133I-kappaB phosphorylation (GO:0007252)2.72844218
134protein K11-linked ubiquitination (GO:0070979)2.72767595
135ribosome biogenesis (GO:0042254)2.71679477
136regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)2.71420084
137regulation of mitotic spindle checkpoint (GO:1903504)2.71420084
138transcription from mitochondrial promoter (GO:0006390)2.71067863
139UTP biosynthetic process (GO:0006228)2.69903154
140histamine secretion (GO:0001821)2.69237178
141positive regulation of heat generation (GO:0031652)2.68650357
142regulation of syncytium formation by plasma membrane fusion (GO:0060142)2.68344801
143positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)2.68255434
144NIK/NF-kappaB signaling (GO:0038061)2.67477029
145negative regulation of protein modification by small protein conjugation or removal (GO:1903321)2.66970424
146chondrocyte proliferation (GO:0035988)2.65314089
147granulocyte activation (GO:0036230)2.64991868
148positive regulation of interleukin-1 beta secretion (GO:0050718)2.64713748
149regulation of antigen processing and presentation (GO:0002577)2.61867058
150dendritic cell migration (GO:0036336)2.58325684
151myeloid dendritic cell activation (GO:0001773)2.58185378
152regulation of germinal center formation (GO:0002634)2.57896369
153positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)2.56990359
154cellular response to zinc ion (GO:0071294)2.52828716
155detection of other organism (GO:0098543)2.51998399
156negative regulation of granulocyte differentiation (GO:0030853)2.51888086
157hepatocyte apoptotic process (GO:0097284)2.51778238
158regulation of DNA endoreduplication (GO:0032875)2.50068674
159regulation of chemokine-mediated signaling pathway (GO:0070099)2.49321152
160positive regulation of macrophage differentiation (GO:0045651)2.48499326
161interferon-gamma production (GO:0032609)2.48425497
162cell adhesion mediated by integrin (GO:0033627)2.47170185
163regulation of integrin activation (GO:0033623)2.46168650
164substrate-dependent cell migration (GO:0006929)2.46014552
165superoxide anion generation (GO:0042554)2.45371984
166regulation of B cell proliferation (GO:0030888)2.45256718
167regulation of interleukin-12 production (GO:0032655)2.44267590
168detection of external biotic stimulus (GO:0098581)2.44263000
169B cell proliferation (GO:0042100)2.41465516
170neuron projection extension involved in neuron projection guidance (GO:1902284)2.40978428
171axon extension involved in axon guidance (GO:0048846)2.40978428
172regulation of fever generation (GO:0031620)2.39935179
173production of molecular mediator involved in inflammatory response (GO:0002532)2.39451767
174ganglion development (GO:0061548)2.37182609
175respiratory burst (GO:0045730)2.37145709
176neutrophil mediated immunity (GO:0002446)2.36958349
177immunoglobulin mediated immune response (GO:0016064)2.36815755
178positive regulation of interleukin-1 secretion (GO:0050716)2.36208069
179myeloid dendritic cell differentiation (GO:0043011)2.36074269
180macrophage activation (GO:0042116)2.36062833
181regulation of mast cell activation (GO:0033003)2.35719464
182negative regulation of interleukin-12 production (GO:0032695)2.34513441
183regulation of interleukin-1 beta secretion (GO:0050706)2.34483332
184regulation of vitamin D biosynthetic process (GO:0060556)2.32568077
185regulation of antigen receptor-mediated signaling pathway (GO:0050854)2.31312735
186positive regulation of interleukin-1 beta production (GO:0032731)2.31188512
187detection of biotic stimulus (GO:0009595)2.30279893
188glomerular visceral epithelial cell development (GO:0072015)2.29832889
189regulation of alpha-beta T cell proliferation (GO:0046640)2.28661959
190germinal center formation (GO:0002467)2.27098269
191tyrosine phosphorylation of STAT protein (GO:0007260)2.25476645
192leukocyte cell-cell adhesion (GO:0007159)2.25397645
193positive regulation of tumor necrosis factor superfamily cytokine production (GO:1903557)2.25095293
194positive regulation of response to biotic stimulus (GO:0002833)2.25077373
195positive regulation of interferon-gamma biosynthetic process (GO:0045078)2.24591279
196positive regulation of interferon-beta production (GO:0032728)2.24194478
197natural killer cell mediated immunity (GO:0002228)2.23909067
198natural killer cell mediated cytotoxicity (GO:0042267)2.23909067
199positive regulation of interferon-gamma production (GO:0032729)2.23393576
200regulation of B cell differentiation (GO:0045577)2.22264704

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXP3_17237761_ChIP-ChIP_TREG_Mouse5.14671534
2KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.85093699
3IRF8_22096565_ChIP-ChIP_GC-B_Human4.38916439
4GABP_17652178_ChIP-ChIP_JURKAT_Human4.23075007
5EST1_17652178_ChIP-ChIP_JURKAT_Human4.02264779
6BP1_19119308_ChIP-ChIP_Hs578T_Human3.82702644
7IRF8_21731497_ChIP-ChIP_J774_Mouse3.70211761
8STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.69618339
9E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.60490601
10SMAD_19615063_ChIP-ChIP_OVARY_Human3.43527657
11NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.40040634
12EGR1_19374776_ChIP-ChIP_THP-1_Human3.27346776
13HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human3.14946465
14JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.96448841
15MYC_18555785_ChIP-Seq_MESCs_Mouse2.94716759
16CREB1_15753290_ChIP-ChIP_HEK293T_Human2.93431189
17ELK1_19687146_ChIP-ChIP_HELA_Human2.91951217
18IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.86163961
19CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.82171856
20VDR_23849224_ChIP-Seq_CD4+_Human2.79982856
21* IRF8_27001747_Chip-Seq_BMDM_Mouse2.71371432
22ETS1_20019798_ChIP-Seq_JURKAT_Human2.61300548
23IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.59840001
24Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.58629149
25STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.55430280
26E2F4_17652178_ChIP-ChIP_JURKAT_Human2.55260683
27SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.52027535
28MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.48062711
29PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse2.43935215
30* FOXP3_21729870_ChIP-Seq_TREG_Human2.39954614
31ELF1_17652178_ChIP-ChIP_JURKAT_Human2.39282729
32MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.27474600
33NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.23508922
34SRF_21415370_ChIP-Seq_HL-1_Mouse2.23470519
35NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.18092524
36CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.14420764
37VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human2.14204348
38PADI4_21655091_ChIP-ChIP_MCF-7_Human2.08721598
39FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse2.08081285
40MYC_19030024_ChIP-ChIP_MESCs_Mouse2.06704491
41TAF15_26573619_Chip-Seq_HEK293_Human2.03232454
42EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.02913104
43HOXB4_20404135_ChIP-ChIP_EML_Mouse1.98127341
44PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.95934608
45DCP1A_22483619_ChIP-Seq_HELA_Human1.89920532
46YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.85476625
47E2F1_18555785_ChIP-Seq_MESCs_Mouse1.82056808
48MYC_18358816_ChIP-ChIP_MESCs_Mouse1.80064187
49FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.79912443
50IGF1R_20145208_ChIP-Seq_DFB_Human1.79138411
51RUNX_20019798_ChIP-Seq_JUKART_Human1.75438820
52E2F7_22180533_ChIP-Seq_HELA_Human1.70513738
53VDR_24787735_ChIP-Seq_THP-1_Human1.69366315
54RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.68907471
55MYB_21317192_ChIP-Seq_ERMYB_Mouse1.68157136
56GBX2_23144817_ChIP-Seq_PC3_Human1.67501398
57NELFA_20434984_ChIP-Seq_ESCs_Mouse1.67260871
58MYC_18940864_ChIP-ChIP_HL60_Human1.64549790
59ZNF274_21170338_ChIP-Seq_K562_Hela1.62879420
60CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.61366924
61VDR_22108803_ChIP-Seq_LS180_Human1.58455820
62NOTCH1_21737748_ChIP-Seq_TLL_Human1.56376969
63SALL1_21062744_ChIP-ChIP_HESCs_Human1.54939953
64FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.53221524
65POU3F2_20337985_ChIP-ChIP_501MEL_Human1.52869377
66HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.49141013
67BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.48354410
68TTF2_22483619_ChIP-Seq_HELA_Human1.48334581
69WT1_19549856_ChIP-ChIP_CCG9911_Human1.48146004
70GABP_19822575_ChIP-Seq_HepG2_Human1.48059702
71ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.46608036
72MYC_19079543_ChIP-ChIP_MESCs_Mouse1.45470761
73FUS_26573619_Chip-Seq_HEK293_Human1.45141538
74THAP11_20581084_ChIP-Seq_MESCs_Mouse1.42682901
75KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.42534778
76STAT4_19710469_ChIP-ChIP_TH1__Mouse1.41960789
77CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.41578441
78GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.40609888
79YY1_21170310_ChIP-Seq_MESCs_Mouse1.38367948
80TP53_18474530_ChIP-ChIP_U2OS_Human1.37699986
81TP53_16413492_ChIP-PET_HCT116_Human1.37606171
82MYCN_18555785_ChIP-Seq_MESCs_Mouse1.37327449
83ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.36669205
84PCGF2_27294783_Chip-Seq_ESCs_Mouse1.35344419
85MYB_26560356_Chip-Seq_TH2_Human1.34571552
86SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.33962109
87SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.33338275
88BRD4_25478319_ChIP-Seq_HGPS_Human1.32689132
89GATA2_21666600_ChIP-Seq_HMVEC_Human1.32630243
90RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.32370825
91PU_27001747_Chip-Seq_BMDM_Mouse1.32327014
92TCF4_18268006_ChIP-ChIP_LS174T_Human1.31697416
93ZNF217_24962896_ChIP-Seq_MCF-7_Human1.30726632
94TRIM28_21343339_ChIP-Seq_HEK293_Human1.29429686
95SUZ12_27294783_Chip-Seq_NPCs_Mouse1.28373766
96FLI1_27457419_Chip-Seq_LIVER_Mouse1.28275180
97ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.27570551
98MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.26658152
99ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.25831552
100SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.25021015
101RBPJ_22232070_ChIP-Seq_NCS_Mouse1.24842686
102POU5F1_16153702_ChIP-ChIP_HESCs_Human1.24494200
103CJUN_26792858_Chip-Seq_BT549_Human1.24369103
104ELK1_22589737_ChIP-Seq_MCF10A_Human1.24062335
105TP63_19390658_ChIP-ChIP_HaCaT_Human1.23435253
106ZFP57_27257070_Chip-Seq_ESCs_Mouse1.22239877
107TFEB_21752829_ChIP-Seq_HELA_Human1.21664409
108RXR_22108803_ChIP-Seq_LS180_Human1.21643733
109HTT_18923047_ChIP-ChIP_STHdh_Human1.19331295
110STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.19061040
111AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.18937345
112TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.18091207
113NANOG_16153702_ChIP-ChIP_HESCs_Human1.17680601
114BRD4_27068464_Chip-Seq_AML-cells_Mouse1.17169875
115SPI1_23127762_ChIP-Seq_K562_Human1.16626327
116NRF2_20460467_ChIP-Seq_MEFs_Mouse1.15262804
117NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.15262804
118NFE2_27457419_Chip-Seq_LIVER_Mouse1.14785174
119XRN2_22483619_ChIP-Seq_HELA_Human1.14658874
120NANOG_18555785_Chip-Seq_ESCs_Mouse1.14625344
121PCGF2_27294783_Chip-Seq_NPCs_Mouse1.12929105
122EZH2_27294783_Chip-Seq_NPCs_Mouse1.12767764
123FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.12739781
124E2F1_18555785_Chip-Seq_ESCs_Mouse1.11844025
125PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.10753492
126HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.10519026
127PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.09732879
128SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.09579962
129POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.09489656
130CDX2_19796622_ChIP-Seq_MESCs_Mouse1.09277718
131P300_19829295_ChIP-Seq_ESCs_Human1.08649702
132P53_22387025_ChIP-Seq_ESCs_Mouse1.07470320
133CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.07164058
134EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.06510110
135NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.06387483
136SUZ12_18555785_Chip-Seq_ESCs_Mouse1.05165484
137SCL_19346495_ChIP-Seq_HPC-7_Human1.04916909
138SMAD4_21799915_ChIP-Seq_A2780_Human1.04658068
139SOX2_16153702_ChIP-ChIP_HESCs_Human1.04455867
140NANOG_18555785_ChIP-Seq_MESCs_Mouse1.04194066
141EWS_26573619_Chip-Seq_HEK293_Human1.03769720
142CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human1.01968400
143CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.01555103
144PIAS1_25552417_ChIP-Seq_VCAP_Human1.01195896
145CMYC_18555785_Chip-Seq_ESCs_Mouse1.00860064
146* SPI1_23547873_ChIP-Seq_NB4_Human0.99968795
147FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.98975589
148TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.97988437
149SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.97873274
150SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.97873274
151STAT3_18555785_Chip-Seq_ESCs_Mouse0.97778493
152MYB_26560356_Chip-Seq_TH1_Human0.97083845
153ER_23166858_ChIP-Seq_MCF-7_Human0.96776087
154HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.96498197
155GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.96005519
156PU1_27457419_Chip-Seq_LIVER_Mouse0.95873335
157AR_21909140_ChIP-Seq_LNCAP_Human0.94299736
158ERG_20887958_ChIP-Seq_HPC-7_Mouse0.92310207
159IRF1_19129219_ChIP-ChIP_H3396_Human0.92200283
160CTNNB1_20460455_ChIP-Seq_HCT116_Human0.91334228
161NMYC_18555785_Chip-Seq_ESCs_Mouse0.90928351
162FOXM1_23109430_ChIP-Seq_U2OS_Human0.89910482
163E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.89862147
164STAT3_23295773_ChIP-Seq_U87_Human0.88892265
165OCT4_18555785_Chip-Seq_ESCs_Mouse0.88498246
166EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.87691729
167HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.87044875
168RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.86802901
169BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.86183300
170CRX_20693478_ChIP-Seq_RETINA_Mouse0.85939585
171GATA3_26560356_Chip-Seq_TH2_Human0.85891486
172E2F1_21310950_ChIP-Seq_MCF-7_Human0.85694440
173SALL4_22934838_ChIP-ChIP_CD34+_Human0.85553310
174PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.85363886
175CIITA_25753668_ChIP-Seq_RAJI_Human0.85335992
176NR3C1_21868756_ChIP-Seq_MCF10A_Human0.85146588
177SOX2_18555785_Chip-Seq_ESCs_Mouse0.84951549
178MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.84276518
179* SOX2_19829295_ChIP-Seq_ESCs_Human0.81586407
180* NANOG_19829295_ChIP-Seq_ESCs_Human0.81586407
181TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.81350941
182POU5F1_18358816_ChIP-ChIP_MESCs_Mouse0.81068694
183SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.80924529
184TP53_22573176_ChIP-Seq_HFKS_Human0.80157185
185CTBP1_25329375_ChIP-Seq_LNCAP_Human0.79380415

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000569_abnormal_digit_pigmentation5.06701995
2MP0001529_abnormal_vocalization3.98613309
3MP0008058_abnormal_DNA_repair3.53705313
4MP0001835_abnormal_antigen_presentation3.52861268
5MP0008057_abnormal_DNA_replication3.43178097
6MP0008789_abnormal_olfactory_epithelium2.93777484
7MP0003786_premature_aging2.79720750
8MP0003436_decreased_susceptibility_to2.55174070
9MP0010094_abnormal_chromosome_stability2.53357344
10MP0002396_abnormal_hematopoietic_system2.48188390
11MP0005645_abnormal_hypothalamus_physiol2.45073671
12MP0004957_abnormal_blastocyst_morpholog2.43829035
13MP0000372_irregular_coat_pigmentation2.38592167
14MP0002148_abnormal_hypersensitivity_rea2.35819130
15MP0005387_immune_system_phenotype2.34833686
16MP0001790_abnormal_immune_system2.34833686
17MP0001968_abnormal_touch/_nociception2.28133155
18MP0009785_altered_susceptibility_to2.27829417
19MP0002419_abnormal_innate_immunity2.24390389
20MP0005000_abnormal_immune_tolerance2.23476620
21MP0006035_abnormal_mitochondrial_morpho2.19302659
22MP0002452_abnormal_antigen_presenting2.18904053
23MP0005499_abnormal_olfactory_system2.18413383
24MP0005394_taste/olfaction_phenotype2.18413383
25MP0003890_abnormal_embryonic-extraembry2.15499283
26MP0003693_abnormal_embryo_hatching2.15035546
27MP0001800_abnormal_humoral_immune2.14312957
28MP0003111_abnormal_nucleus_morphology2.08792872
29MP0002736_abnormal_nociception_after2.01937687
30MP0005503_abnormal_tendon_morphology2.01139196
31MP0005671_abnormal_response_to2.00364398
32MP0003136_yellow_coat_color1.98952178
33MP0003183_abnormal_peptide_metabolism1.98306664
34MP0006036_abnormal_mitochondrial_physio1.94409473
35MP0003724_increased_susceptibility_to1.94381463
36MP0003011_delayed_dark_adaptation1.91771375
37MP0000604_amyloidosis1.91335777
38MP0003077_abnormal_cell_cycle1.90181695
39MP0008438_abnormal_cutaneous_collagen1.87678731
40MP0005257_abnormal_intraocular_pressure1.87313823
41MP0006054_spinal_hemorrhage1.86469448
42MP0008877_abnormal_DNA_methylation1.85744167
43MP0002723_abnormal_immune_serum1.83555499
44MP0003300_gastrointestinal_ulcer1.83406826
45MP0001819_abnormal_immune_cell1.82078878
46MP0002420_abnormal_adaptive_immunity1.80640000
47MP0003303_peritoneal_inflammation1.79892594
48MP0000015_abnormal_ear_pigmentation1.78130381
49MP0003718_maternal_effect1.76316480
50MP0008932_abnormal_embryonic_tissue1.76126016
51MP0003172_abnormal_lysosome_physiology1.75980936
52MP0002006_tumorigenesis1.75407044
53MP0002822_catalepsy1.72610368
54MP0005025_abnormal_response_to1.71840303
55MP0001661_extended_life_span1.70354373
56MP0000685_abnormal_immune_system1.69011394
57MP0004808_abnormal_hematopoietic_stem1.67293734
58MP0004510_myositis1.66341459
59MP0006072_abnormal_retinal_apoptosis1.64654275
60MP0002166_altered_tumor_susceptibility1.63063586
61MP0003186_abnormal_redox_activity1.62793164
62MP0001727_abnormal_embryo_implantation1.61165805
63MP0003045_fibrosis1.57737337
64MP0001533_abnormal_skeleton_physiology1.56687441
65MP0002090_abnormal_vision1.56615095
66MP0002877_abnormal_melanocyte_morpholog1.55221880
67MP0002405_respiratory_system_inflammati1.53914214
68MP0004947_skin_inflammation1.53540576
69MP0002998_abnormal_bone_remodeling1.53061180
70MP0003448_altered_tumor_morphology1.52100709
71MP0006082_CNS_inflammation1.51998174
72MP0003195_calcinosis1.51745829
73MP0006276_abnormal_autonomic_nervous1.49481978
74MP0010352_gastrointestinal_tract_polyps1.48738307
75MP0002398_abnormal_bone_marrow1.48688672
76MP0005310_abnormal_salivary_gland1.46612838
77MP0001485_abnormal_pinna_reflex1.46095139
78MP0000858_altered_metastatic_potential1.44279101
79MP0005076_abnormal_cell_differentiation1.44212424
80MP0004147_increased_porphyrin_level1.43771744
81MP0003091_abnormal_cell_migration1.42313381
82MP0002933_joint_inflammation1.40972625
83MP0005464_abnormal_platelet_physiology1.38017126
84MP0001984_abnormal_olfaction1.37405620
85MP0010155_abnormal_intestine_physiology1.37294193
86MP0005174_abnormal_tail_pigmentation1.36644119
87MP0000716_abnormal_immune_system1.36406808
88MP0003567_abnormal_fetal_cardiomyocyte1.33253917
89MP0005084_abnormal_gallbladder_morpholo1.32322912
90MP0009764_decreased_sensitivity_to1.30345400
91MP0005187_abnormal_penis_morphology1.28402902
92MP0001293_anophthalmia1.26812308
93MP0009697_abnormal_copulation1.26068652
94MP0001845_abnormal_inflammatory_respons1.25077567
95MP0003787_abnormal_imprinting1.20341177
96MP0010307_abnormal_tumor_latency1.19113371
97MP0005390_skeleton_phenotype1.17535773
98MP0001346_abnormal_lacrimal_gland1.17338238
99MP0002132_abnormal_respiratory_system1.16401817
100MP0002163_abnormal_gland_morphology1.15934419
101MP0003566_abnormal_cell_adhesion1.15788622
102MP0003279_aneurysm1.15228934
103MP0000490_abnormal_crypts_of1.14918222
104MP0000733_abnormal_muscle_development1.13230474
105MP0002095_abnormal_skin_pigmentation1.12041130
106MP0003763_abnormal_thymus_physiology1.11711947
107MP0004145_abnormal_muscle_electrophysio1.10217678
108MP0006292_abnormal_olfactory_placode1.08124473
109MP0005367_renal/urinary_system_phenotyp1.07982251
110MP0000516_abnormal_urinary_system1.07982251
111MP0002429_abnormal_blood_cell1.07455629
112MP0003221_abnormal_cardiomyocyte_apopto1.06009027
113MP0000689_abnormal_spleen_morphology1.04646375
114MP0005058_abnormal_lysosome_morphology1.03456110
115MP0001873_stomach_inflammation1.02426647
116MP0002928_abnormal_bile_duct1.01803745
117MP0008995_early_reproductive_senescence1.01789453
118MP0002722_abnormal_immune_system1.01708853
119MP0000358_abnormal_cell_content/1.01566572
120MP0005075_abnormal_melanosome_morpholog1.00619956
121MP0001764_abnormal_homeostasis1.00585528
122MP0001905_abnormal_dopamine_level0.99169220
123MP0001986_abnormal_taste_sensitivity0.99022313
124MP0002138_abnormal_hepatobiliary_system0.95759203
125MP0001879_abnormal_lymphatic_vessel0.95597758
126MP0000371_diluted_coat_color0.93536102
127MP0005623_abnormal_meninges_morphology0.92601638
128MP0000767_abnormal_smooth_muscle0.91239164
129MP0009333_abnormal_splenocyte_physiolog0.90361022
130MP0001881_abnormal_mammary_gland0.88415440
131MP0005253_abnormal_eye_physiology0.87455405
132MP0002168_other_aberrant_phenotype0.87010647
133MP0005397_hematopoietic_system_phenotyp0.86915721
134MP0001545_abnormal_hematopoietic_system0.86915721
135MP0001853_heart_inflammation0.85605483
136MP0003121_genomic_imprinting0.83471860
137MP0003795_abnormal_bone_structure0.83357148
138MP0001188_hyperpigmentation0.82036249
139MP0008004_abnormal_stomach_pH0.81440919
140MP0000703_abnormal_thymus_morphology0.81272140
141MP0005266_abnormal_metabolism0.81021070
142MP0000647_abnormal_sebaceous_gland0.79302590
143MP0000343_altered_response_to0.78916625
144MP0003828_pulmonary_edema0.78868308
145MP0005171_absent_coat_pigmentation0.77317880
146MP0002751_abnormal_autonomic_nervous0.76325203
147MP0001958_emphysema0.75861856
148MP0002277_abnormal_respiratory_mucosa0.75810924
149MP0005248_abnormal_Harderian_gland0.74812721
150MP0008872_abnormal_physiological_respon0.74464994
151MP0002233_abnormal_nose_morphology0.74135673
152MP0009278_abnormal_bone_marrow0.72975655
153MP0002113_abnormal_skeleton_development0.72809459
154MP0005220_abnormal_exocrine_pancreas0.71517304
155MP0004142_abnormal_muscle_tone0.71444802
156MP0008007_abnormal_cellular_replicative0.71116424
157MP0001730_embryonic_growth_arrest0.70277458
158MP0000427_abnormal_hair_cycle0.70106033
159MP0002272_abnormal_nervous_system0.69986918
160MP0003941_abnormal_skin_development0.69359054
161MP0004215_abnormal_myocardial_fiber0.69192562
162MP0000465_gastrointestinal_hemorrhage0.67909016
163MP0003705_abnormal_hypodermis_morpholog0.67850754
164MP0001542_abnormal_bone_strength0.67488620
165MP0008775_abnormal_heart_ventricle0.67399993
166MP0005275_abnormal_skin_tensile0.66340417
167MP0010386_abnormal_urinary_bladder0.66047466
168MP0005023_abnormal_wound_healing0.65236762
169MP0001756_abnormal_urination0.64853507
170MP0002160_abnormal_reproductive_system0.59301644
171MP0002019_abnormal_tumor_incidence0.59099684
172MP0002837_dystrophic_cardiac_calcinosis0.58515212
173MP0002102_abnormal_ear_morphology0.58170332
174MP0005386_behavior/neurological_phenoty0.57772614
175MP0004924_abnormal_behavior0.57772614
176MP0003646_muscle_fatigue0.57262550
177MP0000313_abnormal_cell_death0.56293930
178MP0005395_other_phenotype0.56206291
179MP0001697_abnormal_embryo_size0.55733463
180MP0003937_abnormal_limbs/digits/tail_de0.55138915
181MP0005379_endocrine/exocrine_gland_phen0.53808820

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)5.20209030
2Acute encephalopathy (HP:0006846)5.03732066
3Abnormal mitochondria in muscle tissue (HP:0008316)4.56355268
4Progressive macrocephaly (HP:0004481)4.41497041
5Mitochondrial inheritance (HP:0001427)4.09437165
6Eczematoid dermatitis (HP:0000976)4.02054785
7Hepatocellular necrosis (HP:0001404)3.83857915
8Increased CSF lactate (HP:0002490)3.66369614
9Colon cancer (HP:0003003)3.63026668
10Hepatic necrosis (HP:0002605)3.59570886
11Recurrent abscess formation (HP:0002722)3.46215993
12Cerebral edema (HP:0002181)3.32314753
13Recurrent fungal infections (HP:0002841)3.24797205
143-Methylglutaconic aciduria (HP:0003535)3.23827956
15Increased hepatocellular lipid droplets (HP:0006565)3.20345453
16Aplastic anemia (HP:0001915)3.15684094
17Abolished electroretinogram (ERG) (HP:0000550)3.12802020
18Retrobulbar optic neuritis (HP:0100654)3.07732085
19Optic neuritis (HP:0100653)3.07732085
20Abnormal glycosylation (HP:0012345)3.07239332
21Abnormal isoelectric focusing of serum transferrin (HP:0003160)3.07239332
22Abnormal protein N-linked glycosylation (HP:0012347)3.07239332
23Abnormal protein glycosylation (HP:0012346)3.07239332
24Prostate neoplasm (HP:0100787)2.97405223
25Autoimmune thrombocytopenia (HP:0001973)2.91680685
26Chronic mucocutaneous candidiasis (HP:0002728)2.88788429
27Recurrent cutaneous fungal infections (HP:0011370)2.88788429
28Recurrent bacterial skin infections (HP:0005406)2.83872307
29Renal Fanconi syndrome (HP:0001994)2.83397685
30Myositis (HP:0100614)2.80577201
31Mediastinal lymphadenopathy (HP:0100721)2.79394294
32Spinal cord lesions (HP:0100561)2.78525977
33Syringomyelia (HP:0003396)2.78525977
34Orchitis (HP:0100796)2.78014630
35Respiratory failure (HP:0002878)2.76453187
36Recurrent viral infections (HP:0004429)2.76075368
37Lactic acidosis (HP:0003128)2.74680759
38Recurrent gram-negative bacterial infections (HP:0005420)2.73958408
39Generalized aminoaciduria (HP:0002909)2.73636703
40Periodontitis (HP:0000704)2.72852225
41Chromsome breakage (HP:0040012)2.71207848
42Gingivitis (HP:0000230)2.66598664
43Hyperglycinemia (HP:0002154)2.65896514
44Abnormality of the labia minora (HP:0012880)2.58910431
45Leukodystrophy (HP:0002415)2.58748828
46Decreased activity of mitochondrial respiratory chain (HP:0008972)2.57661687
47Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.57661687
48Abnormality of the nasal septum (HP:0000419)2.56533449
49IgM deficiency (HP:0002850)2.53418809
50Lipid accumulation in hepatocytes (HP:0006561)2.52734997
51Microvesicular hepatic steatosis (HP:0001414)2.52575308
52Chromosomal breakage induced by crosslinking agents (HP:0003221)2.52462018
53Respiratory difficulties (HP:0002880)2.51765468
54Optic disc pallor (HP:0000543)2.49403413
55Rectal fistula (HP:0100590)2.47982080
56Rectovaginal fistula (HP:0000143)2.47982080
57Urethral obstruction (HP:0000796)2.42062696
58Exercise intolerance (HP:0003546)2.41873081
59Osteomyelitis (HP:0002754)2.39762947
60Obstructive lung disease (HP:0006536)2.39220727
61Chronic obstructive pulmonary disease (HP:0006510)2.39220727
62Oral leukoplakia (HP:0002745)2.38924241
63Exertional dyspnea (HP:0002875)2.38245420
64Abnormality of alanine metabolism (HP:0010916)2.37135656
65Hyperalaninemia (HP:0003348)2.37135656
66Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.37135656
67Acute myeloid leukemia (HP:0004808)2.36945522
68Severe combined immunodeficiency (HP:0004430)2.36809828
69Sparse eyelashes (HP:0000653)2.36052002
70Type I transferrin isoform profile (HP:0003642)2.32632238
71Sensorimotor neuropathy (HP:0007141)2.31531534
72Vasculitis (HP:0002633)2.30796519
73Increased serum lactate (HP:0002151)2.29614662
74Combined immunodeficiency (HP:0005387)2.29565510
75Type 2 muscle fiber atrophy (HP:0003554)2.28333216
76Abnormality of serum amino acid levels (HP:0003112)2.27467563
77Cellulitis (HP:0100658)2.26366014
78Pancytopenia (HP:0001876)2.25913660
79Arterial thrombosis (HP:0004420)2.25622807
80Degeneration of anterior horn cells (HP:0002398)2.25108854
81Abnormality of the anterior horn cell (HP:0006802)2.25108854
82Chronic diarrhea (HP:0002028)2.22136541
83Abnormality of the fingertips (HP:0001211)2.18623382
84Albinism (HP:0001022)2.17796446
85IgA deficiency (HP:0002720)2.17276175
86Increased intramyocellular lipid droplets (HP:0012240)2.15058219
87Hip dysplasia (HP:0001385)2.13507436
88Meningitis (HP:0001287)2.13287565
89Recurrent pneumonia (HP:0006532)2.12509311
90Recurrent skin infections (HP:0001581)2.11241875
91Adactyly (HP:0009776)2.10955730
92Agammaglobulinemia (HP:0004432)2.08984202
93Medial flaring of the eyebrow (HP:0010747)2.08037166
94Lethargy (HP:0001254)2.07891765
95Aortic aneurysm (HP:0004942)2.07886817
96Abnormal delayed hypersensitivity skin test (HP:0002963)2.07331711
97X-linked dominant inheritance (HP:0001423)2.07115456
98Cellular immunodeficiency (HP:0005374)2.05293871
99Poor head control (HP:0002421)2.02910430
100Abnormality of T cell number (HP:0011839)2.01823032
101Absent frontal sinuses (HP:0002688)2.01310638
102Cervical subluxation (HP:0003308)2.01047797
103Hypothermia (HP:0002045)2.00807757
104Lymphopenia (HP:0001888)2.00447170
105Eosinophilia (HP:0001880)2.00110293
106Basal ganglia calcification (HP:0002135)1.99617501
107Abnormality of the prostate (HP:0008775)1.99448269
108Thyroiditis (HP:0100646)1.99397045
109Vaginal fistula (HP:0004320)1.98923262
110Axonal loss (HP:0003447)1.98389494
111Abnormal hair whorl (HP:0010721)1.96900751
112CNS demyelination (HP:0007305)1.95863833
113Rhabdomyosarcoma (HP:0002859)1.95068562
114Postnatal microcephaly (HP:0005484)1.94203494
115Abnormality of cells of the lymphoid lineage (HP:0012140)1.94136348
116Congenital primary aphakia (HP:0007707)1.93247497
117Abnormality of the right ventricle (HP:0001707)1.92489971
118Pulmonary infiltrates (HP:0002113)1.92240158
119Muscle fiber atrophy (HP:0100295)1.91397585
120Increased number of teeth (HP:0011069)1.91272622
121Cheilitis (HP:0100825)1.91166175
122Stomatitis (HP:0010280)1.90823741
123Recurrent lower respiratory tract infections (HP:0002783)1.90583312
124T lymphocytopenia (HP:0005403)1.90501154
125Deep philtrum (HP:0002002)1.89513046
126Aortic dissection (HP:0002647)1.89132060
127Increased neuronal autofluorescent lipopigment (HP:0002074)1.88356701
128Horseshoe kidney (HP:0000085)1.87023904
129Mesomelia (HP:0003027)1.86546174
130Abnormality of chromosome stability (HP:0003220)1.85574361
131IgG deficiency (HP:0004315)1.85485841
132Increased density of long bones (HP:0006392)1.83329174
133Abnormality of incisor morphology (HP:0011063)1.81728695
134Spondylolisthesis (HP:0003302)1.81297581
135Palpitations (HP:0001962)1.80895574
136Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)1.80874958
137Increased cerebral lipofuscin (HP:0011813)1.80593115
138Gait imbalance (HP:0002141)1.79396889
139Glycosuria (HP:0003076)1.78407595
140Abnormality of urine glucose concentration (HP:0011016)1.78407595
141Limb hypertonia (HP:0002509)1.78403223
142Methylmalonic acidemia (HP:0002912)1.78135449
143Long eyelashes (HP:0000527)1.77642926
144Decreased muscle mass (HP:0003199)1.76178406
145Submucous cleft hard palate (HP:0000176)1.76162826
146Abnormality of macrophages (HP:0004311)1.75867446
147Nausea (HP:0002018)1.75828481
148Hematochezia (HP:0002573)1.75826225
149Inflammation of the large intestine (HP:0002037)1.74260122
150Dilatation of the ascending aorta (HP:0005111)1.73286652
151Congenital, generalized hypertrichosis (HP:0004540)1.73016902
152Nephrogenic diabetes insipidus (HP:0009806)1.72996040
153Shoulder girdle muscle weakness (HP:0003547)1.72525760
154Pendular nystagmus (HP:0012043)1.72359062
155Constricted visual fields (HP:0001133)1.71923320
156Intestinal fistula (HP:0100819)1.71821600
157Osteolytic defects of the hand bones (HP:0009699)1.71730965
158Osteolytic defects of the phalanges of the hand (HP:0009771)1.71730965
159Bifid tongue (HP:0010297)1.71274894
160Narrow palate (HP:0000189)1.70683462
161Glomerulopathy (HP:0100820)1.70499750
162Ectopic kidney (HP:0000086)1.70084668
163Fair hair (HP:0002286)1.69578295
164Cortical dysplasia (HP:0002539)1.68669033
165Increased serum pyruvate (HP:0003542)1.68338221
166Renal cortical cysts (HP:0000803)1.68309698
167Abnormal respiratory motile cilium morphology (HP:0005938)1.67733255
168Abnormal respiratory epithelium morphology (HP:0012253)1.67733255
169Generalized hypopigmentation of hair (HP:0011358)1.67028085
170Hemoptysis (HP:0002105)1.66934099
171Hyperglycinuria (HP:0003108)1.66737062
172Aortic regurgitation (HP:0001659)1.65305848
173B lymphocytopenia (HP:0010976)1.65221718
174Abnormality of B cell number (HP:0010975)1.65221718
175Neoplasm of the peripheral nervous system (HP:0100007)1.65136784
176Agnosia (HP:0010524)1.64764379
177Subacute progressive viral hepatitis (HP:0006572)1.64566523
178Abnormal biliary tract physiology (HP:0012439)1.64476388
179Bile duct proliferation (HP:0001408)1.64476388
180Poor suck (HP:0002033)1.63819267
181Alveolar cell carcinoma (HP:0006519)1.60808254
182Volvulus (HP:0002580)1.59225838
183Leukocytosis (HP:0001974)1.58751424
184Abnormal platelet volume (HP:0011876)1.58656930
185Distal lower limb amyotrophy (HP:0008944)1.58613001
186Gastrointestinal stroma tumor (HP:0100723)1.57476053
187Transitional cell carcinoma of the bladder (HP:0006740)1.57363673
188Abnormality of the pericardium (HP:0001697)1.57108675
189Hypoplasia of the fovea (HP:0007750)1.55369600
190Aplasia/Hypoplasia of the fovea (HP:0008060)1.55369600
191Asymmetry of the thorax (HP:0001555)1.54946857
192Lower limb amyotrophy (HP:0007210)1.54305430
193Uterine leiomyosarcoma (HP:0002891)1.52740581
194Leiomyosarcoma (HP:0100243)1.52740581

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB14.11162474
2VRK23.56936009
3MAP3K143.56711350
4SIK33.32042663
5FRK3.10377451
6TXK3.01682032
7ZAK3.01143826
8EIF2AK32.83168313
9JAK32.82572509
10SRPK12.57158668
11STK162.36970314
12MST42.36738697
13EIF2AK12.26771021
14TNIK2.16539850
15WNK32.12857877
16IRAK42.08774552
17PBK2.04395347
18MAP4K12.02949811
19PDK21.97885059
20FGFR31.96954821
21TRIM281.93621411
22VRK11.92707592
23RPS6KA41.87856788
24JAK11.87200113
25MAP2K71.86244121
26TSSK61.81721922
27MKNK21.81298880
28MAP3K121.80077453
29CDK121.79340906
30NEK11.78176144
31IRAK31.77178281
32KIT1.76092968
33NME11.75491457
34ERBB31.69533727
35CHUK1.65517498
36NEK91.64933547
37MKNK11.63855830
38TYK21.62701266
39PIM21.61320795
40CSF1R1.58676094
41TAF11.57723562
42DMPK1.55958367
43TBK11.53606419
44TAOK31.53439750
45LATS11.50260511
46DYRK31.49289348
47EPHA31.43972547
48TGFBR21.40762555
49IKBKB1.40508476
50PIK3CG1.39177821
51CDC71.39119211
52BLK1.38656783
53DAPK11.38193308
54CSNK1G31.36562879
55MAP3K41.34017745
56NUAK11.33194261
57CSNK1G11.32557138
58TEC1.31150346
59NME21.29287502
60MAP3K131.28242403
61CSNK1G21.28075272
62MAP4K21.27693470
63DYRK21.27658068
64STK101.27497501
65TRPM71.26644324
66STK31.26304107
67SGK21.25484653
68PASK1.24044992
69IKBKE1.21923835
70PINK11.20137782
71BRD41.19630608
72RIPK41.19621099
73PLK11.17705534
74BCR1.15685141
75SIK11.14697263
76PIK3CA1.13896725
77INSRR1.13803054
78EIF2AK21.12315129
79NLK1.12311254
80PAK41.11574326
81TTN1.11501007
82BCKDK1.11204678
83HCK1.10637442
84SGK31.08683957
85PRKCH1.08610151
86CSNK1A1L1.08047554
87TTK1.08015396
88CASK1.04379159
89BMPR1B1.02324122
90PLK41.01363643
91AKT30.98972298
92SYK0.98342138
93CDK80.96110056
94MUSK0.95621077
95BTK0.88969548
96ERN10.86828985
97ITK0.86766312
98YES10.86518261
99LYN0.84342516
100PRKCQ0.83111677
101LCK0.80341289
102ATR0.78228223
103CAMK1D0.77889979
104TIE10.76611269
105ERBB40.76123268
106PLK20.74804400
107CCNB10.74479148
108BRSK20.73257710
109ALK0.72826426
110OBSCN0.68448252
111ZAP700.66584657
112TAOK20.66202805
113CDK60.64920631
114PIM10.64849124
115STK240.61141391
116KDR0.61032208
117CSNK2A20.59763720
118SIK20.59337511
119EPHB20.58966222
120RIPK10.58027559
121PRKCG0.57618513
122SCYL20.56634400
123AURKB0.55730845
124LIMK10.54777901
125TESK20.54382903
126MAP3K50.53912762
127MYLK0.53267783
128IGF1R0.52189918
129MAPKAPK20.51518544
130CSK0.51099361
131CSNK2A10.49587254
132PRKCD0.48331784
133EGFR0.45841217
134PDGFRB0.45758198
135PRKCE0.45445738
136CAMK1G0.44749322
137ABL10.44407053
138RPS6KB10.44122926
139MARK30.43378934
140TESK10.42284043
141PLK30.42257407
142AURKA0.42166864
143GRK70.41464663
144MAP3K100.41100670
145ATM0.39176592
146CHEK20.39082207
147STK40.38490134
148JAK20.37583810
149CSNK1E0.36948478
150FGFR10.35080207
151AKT10.34293291
152PTK60.34274602
153INSR0.34240574
154CDK90.33841846
155SGK10.33658927
156WEE10.33526418
157TGFBR10.32868913
158LRRK20.32265439
159GRK10.31834022
160FYN0.31744383
161CDK30.31068409
162RPS6KA50.29727162
163ADRBK20.29095658
164DYRK1A0.28852282
165PRKG20.27531491
166CAMK2D0.27436616
167FGR0.26823172
168ACVR1B0.26233261
169CSNK1A10.25021025
170CAMK2A0.24450987
171ADRBK10.22552232

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030504.94359675
2Oxidative phosphorylation_Homo sapiens_hsa001903.32007711
3Protein export_Homo sapiens_hsa030603.30374123
4Parkinsons disease_Homo sapiens_hsa050122.90236368
5Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.78782394
6RNA polymerase_Homo sapiens_hsa030202.70360894
7Mismatch repair_Homo sapiens_hsa034302.56627987
8Leishmaniasis_Homo sapiens_hsa051402.41870897
9NF-kappa B signaling pathway_Homo sapiens_hsa040642.31166251
10Intestinal immune network for IgA production_Homo sapiens_hsa046722.01684116
11Toll-like receptor signaling pathway_Homo sapiens_hsa046201.97180258
12Basal transcription factors_Homo sapiens_hsa030221.95694549
13Huntingtons disease_Homo sapiens_hsa050161.91900697
14Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.89480703
15Osteoclast differentiation_Homo sapiens_hsa043801.85535427
16Base excision repair_Homo sapiens_hsa034101.84192397
17Measles_Homo sapiens_hsa051621.83460100
18Ribosome_Homo sapiens_hsa030101.81744721
19Alzheimers disease_Homo sapiens_hsa050101.81445910
20DNA replication_Homo sapiens_hsa030301.80609711
21Hematopoietic cell lineage_Homo sapiens_hsa046401.79303333
22Primary immunodeficiency_Homo sapiens_hsa053401.78293166
23NOD-like receptor signaling pathway_Homo sapiens_hsa046211.76016219
24Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.75858559
25RNA degradation_Homo sapiens_hsa030181.73623195
26Spliceosome_Homo sapiens_hsa030401.72672074
27Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.72411030
28Legionellosis_Homo sapiens_hsa051341.71889951
29Fatty acid elongation_Homo sapiens_hsa000621.71403689
30Homologous recombination_Homo sapiens_hsa034401.70881959
31Allograft rejection_Homo sapiens_hsa053301.66850887
32Cysteine and methionine metabolism_Homo sapiens_hsa002701.62090278
33Propanoate metabolism_Homo sapiens_hsa006401.61845096
34RNA transport_Homo sapiens_hsa030131.61279148
35Graft-versus-host disease_Homo sapiens_hsa053321.59641785
36Tuberculosis_Homo sapiens_hsa051521.57529523
37Nucleotide excision repair_Homo sapiens_hsa034201.56480357
38B cell receptor signaling pathway_Homo sapiens_hsa046621.55621908
39Folate biosynthesis_Homo sapiens_hsa007901.54473237
40TNF signaling pathway_Homo sapiens_hsa046681.52625297
41Malaria_Homo sapiens_hsa051441.51441665
42Asthma_Homo sapiens_hsa053101.48232230
43Toxoplasmosis_Homo sapiens_hsa051451.47578159
44RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.46420262
45Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.45881538
46One carbon pool by folate_Homo sapiens_hsa006701.38631670
47Viral myocarditis_Homo sapiens_hsa054161.37583428
48Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.35232428
49* Pyrimidine metabolism_Homo sapiens_hsa002401.35145509
50Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.33433285
51Hepatitis B_Homo sapiens_hsa051611.33023365
52Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.32001785
53Rheumatoid arthritis_Homo sapiens_hsa053231.28739269
54Influenza A_Homo sapiens_hsa051641.28247456
55Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.28138359
56Phagosome_Homo sapiens_hsa041451.28071549
57Type I diabetes mellitus_Homo sapiens_hsa049401.26988102
58Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.24096217
59Small cell lung cancer_Homo sapiens_hsa052221.23569295
60Pancreatic cancer_Homo sapiens_hsa052121.23380145
61Salmonella infection_Homo sapiens_hsa051321.22919444
62Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.21157996
63Apoptosis_Homo sapiens_hsa042101.19276717
64Pertussis_Homo sapiens_hsa051331.18968943
65Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.18596792
66Chronic myeloid leukemia_Homo sapiens_hsa052201.17729728
67Antigen processing and presentation_Homo sapiens_hsa046121.16898084
68AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.16346741
69Steroid biosynthesis_Homo sapiens_hsa001001.13889274
70Herpes simplex infection_Homo sapiens_hsa051681.13138603
71Chemokine signaling pathway_Homo sapiens_hsa040621.12568271
72Jak-STAT signaling pathway_Homo sapiens_hsa046301.10617406
73Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.10245219
74Glycosaminoglycan degradation_Homo sapiens_hsa005311.09927877
75Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.09443248
76Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.08001173
77Collecting duct acid secretion_Homo sapiens_hsa049661.07715750
78Shigellosis_Homo sapiens_hsa051311.07232603
79Adherens junction_Homo sapiens_hsa045201.05346963
80Transcriptional misregulation in cancer_Homo sapiens_hsa052021.03354388
81Leukocyte transendothelial migration_Homo sapiens_hsa046701.03241374
82Pyruvate metabolism_Homo sapiens_hsa006200.99640318
83Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.98350762
84Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.96871453
85MicroRNAs in cancer_Homo sapiens_hsa052060.96729672
86Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.96044884
87Cardiac muscle contraction_Homo sapiens_hsa042600.95695757
88Renin-angiotensin system_Homo sapiens_hsa046140.95639187
89T cell receptor signaling pathway_Homo sapiens_hsa046600.95015296
90Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.94846738
91Primary bile acid biosynthesis_Homo sapiens_hsa001200.94816729
92Autoimmune thyroid disease_Homo sapiens_hsa053200.92726380
932-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.91713969
94Amoebiasis_Homo sapiens_hsa051460.91106653
95Purine metabolism_Homo sapiens_hsa002300.90918682
96Lysosome_Homo sapiens_hsa041420.90346893
97Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.89748384
98ECM-receptor interaction_Homo sapiens_hsa045120.89327467
99Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.88116696
100p53 signaling pathway_Homo sapiens_hsa041150.87233783
101Staphylococcus aureus infection_Homo sapiens_hsa051500.86570857
102Colorectal cancer_Homo sapiens_hsa052100.84797935
103Acute myeloid leukemia_Homo sapiens_hsa052210.84653214
104HTLV-I infection_Homo sapiens_hsa051660.83979069
105Proteoglycans in cancer_Homo sapiens_hsa052050.83517927
106Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.83117569
107Focal adhesion_Homo sapiens_hsa045100.83106184
108Butanoate metabolism_Homo sapiens_hsa006500.81123780
109Peroxisome_Homo sapiens_hsa041460.79882817
110Prolactin signaling pathway_Homo sapiens_hsa049170.79163868
111Hepatitis C_Homo sapiens_hsa051600.78369940
112Glutathione metabolism_Homo sapiens_hsa004800.78112753
113Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.78085340
114Non-homologous end-joining_Homo sapiens_hsa034500.77645857
115Platelet activation_Homo sapiens_hsa046110.76667226
116Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.75464521
117Type II diabetes mellitus_Homo sapiens_hsa049300.74817304
118Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.74373609
119Regulation of actin cytoskeleton_Homo sapiens_hsa048100.73361245
120Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.72925428
121Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.72628602
122Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.72471419
123Carbon metabolism_Homo sapiens_hsa012000.71611503
124Melanoma_Homo sapiens_hsa052180.70778463
125Regulation of autophagy_Homo sapiens_hsa041400.69795776
126Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.68469465
127Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.68418215
128Endometrial cancer_Homo sapiens_hsa052130.68084716
129Neurotrophin signaling pathway_Homo sapiens_hsa047220.67789558
130Prostate cancer_Homo sapiens_hsa052150.67046307
131African trypanosomiasis_Homo sapiens_hsa051430.65649510
132Sulfur metabolism_Homo sapiens_hsa009200.65311557
133FoxO signaling pathway_Homo sapiens_hsa040680.65251114
134Viral carcinogenesis_Homo sapiens_hsa052030.65168810
135Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.63606762
136* Metabolic pathways_Homo sapiens_hsa011000.58917240
137Selenocompound metabolism_Homo sapiens_hsa004500.58806517
138Vitamin B6 metabolism_Homo sapiens_hsa007500.58512346
139Non-small cell lung cancer_Homo sapiens_hsa052230.56687342
140Pathways in cancer_Homo sapiens_hsa052000.55910721
141TGF-beta signaling pathway_Homo sapiens_hsa043500.55098815
142PI3K-Akt signaling pathway_Homo sapiens_hsa041510.53933099
143Fanconi anemia pathway_Homo sapiens_hsa034600.53928846
144Dilated cardiomyopathy_Homo sapiens_hsa054140.53183866
145Thyroid hormone signaling pathway_Homo sapiens_hsa049190.52684952
146N-Glycan biosynthesis_Homo sapiens_hsa005100.52666109
147Fatty acid metabolism_Homo sapiens_hsa012120.51414923
148Pentose and glucuronate interconversions_Homo sapiens_hsa000400.51057672
149mRNA surveillance pathway_Homo sapiens_hsa030150.50983254
150Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.50374393
151Epstein-Barr virus infection_Homo sapiens_hsa051690.50035106
152Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.49293921
153Caffeine metabolism_Homo sapiens_hsa002320.49202704
154Cell cycle_Homo sapiens_hsa041100.48951831
155Biosynthesis of amino acids_Homo sapiens_hsa012300.48669240
156Phosphatidylinositol signaling system_Homo sapiens_hsa040700.48627559
157MAPK signaling pathway_Homo sapiens_hsa040100.47986889
158HIF-1 signaling pathway_Homo sapiens_hsa040660.47668400
159Glioma_Homo sapiens_hsa052140.47157885
160Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.47025232
161Tryptophan metabolism_Homo sapiens_hsa003800.46644100
162Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.46566921
163Other glycan degradation_Homo sapiens_hsa005110.46473249
164Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.44293948
165beta-Alanine metabolism_Homo sapiens_hsa004100.44041430
166Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.40605354
167Oocyte meiosis_Homo sapiens_hsa041140.40075757
168Phototransduction_Homo sapiens_hsa047440.40033397
169Fatty acid degradation_Homo sapiens_hsa000710.33104140
170SNARE interactions in vesicular transport_Homo sapiens_hsa041300.29995541
171Nitrogen metabolism_Homo sapiens_hsa009100.24444882
172Circadian rhythm_Homo sapiens_hsa047100.23027753
173Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.21847917
174Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.21499996
175Pentose phosphate pathway_Homo sapiens_hsa000300.18734248
176Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.17130853

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