UCKL1

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 uridine kinase. Uridine kinases catalyze the phosphorylation of uridine to uridine monophosphate. This protein has been shown to bind to Epstein-Barr nuclear antigen 3 as well as natural killer lytic-associated molecule. Ubiquitination of this protein is enhanced by the presence of natural killer lytic-associated molecule. In addition, protein levels decrease in the presence of natural killer lytic-associated molecule, suggesting that association with natural killer lytic-associated molecule results in ubiquitination and subsequent degradation of this protein. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1pentose-phosphate shunt (GO:0006098)8.02562301
2regulation of rhodopsin mediated signaling pathway (GO:0022400)7.95380243
3rhodopsin mediated signaling pathway (GO:0016056)7.76847371
4NADPH regeneration (GO:0006740)7.28052023
5pentose metabolic process (GO:0019321)7.18822810
6glucose catabolic process (GO:0006007)6.78451619
7activation of NF-kappaB-inducing kinase activity (GO:0007250)5.93246305
8photoreceptor cell maintenance (GO:0045494)5.92254349
9retinal cone cell development (GO:0046549)5.91055513
10GMP metabolic process (GO:0046037)5.72619257
11purine nucleotide salvage (GO:0032261)5.53879677
12positive regulation of gamma-delta T cell activation (GO:0046645)5.35342034
13diterpenoid biosynthetic process (GO:0016102)5.34765543
14antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G5.26170533
15regulation of glycogen (starch) synthase activity (GO:2000465)5.10630170
16regulation of activation of Janus kinase activity (GO:0010533)4.98396858
17* nucleotide salvage (GO:0043173)4.93574800
18peptidyl-lysine dimethylation (GO:0018027)4.91722473
19photoreceptor cell development (GO:0042461)4.85973897
20regulation of mammary gland epithelial cell proliferation (GO:0033599)4.71787457
21eye photoreceptor cell development (GO:0042462)4.69542549
22detection of light stimulus involved in sensory perception (GO:0050962)4.52193482
23detection of light stimulus involved in visual perception (GO:0050908)4.52193482
24phototransduction, visible light (GO:0007603)4.31594481
25antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)4.31446396
26antigen processing and presentation of endogenous peptide antigen (GO:0002483)4.31446396
27phototransduction (GO:0007602)4.27798091
28terpenoid biosynthetic process (GO:0016114)4.26759952
29tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)4.26748831
30RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)4.26748831
31detection of light stimulus (GO:0009583)4.03656077
32detection of visible light (GO:0009584)4.03596067
33keratinocyte development (GO:0003334)4.00730771
34positive regulation of B cell differentiation (GO:0045579)3.93842146
35antigen processing and presentation of endogenous antigen (GO:0019883)3.93401000
36positive regulation of NIK/NF-kappaB signaling (GO:1901224)3.92870872
37positive regulation of guanylate cyclase activity (GO:0031284)3.92421155
38* nucleoside salvage (GO:0043174)3.90953729
39positive regulation of epidermal cell differentiation (GO:0045606)3.89430483
40response to folic acid (GO:0051593)3.85634083
41negative regulation of JAK-STAT cascade (GO:0046426)3.83436792
42translational elongation (GO:0006414)3.76866908
43cellular response to interferon-beta (GO:0035458)3.76230705
44viral transcription (GO:0019083)3.71282593
45NADP metabolic process (GO:0006739)3.69386236
46nonmotile primary cilium assembly (GO:0035058)3.66267975
47NADH metabolic process (GO:0006734)3.64865686
48ribosomal small subunit assembly (GO:0000028)3.62554680
49activation of MAPKKK activity (GO:0000185)3.60609907
50phosphatidylglycerol biosynthetic process (GO:0006655)3.60344583
51response to interferon-beta (GO:0035456)3.57818377
52regulation of gamma-delta T cell activation (GO:0046643)3.53934583
53plasma lipoprotein particle assembly (GO:0034377)3.53928003
54negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)3.52840899
55mast cell activation (GO:0045576)3.52219454
56tRNA modification (GO:0006400)3.50328009
57adaptation of signaling pathway (GO:0023058)3.48712808
58regulation of gamma-delta T cell differentiation (GO:0045586)3.48257704
59GDP-mannose metabolic process (GO:0019673)3.48193265
60visual perception (GO:0007601)3.46411044
61positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.46344109
62proline biosynthetic process (GO:0006561)3.46307228
63translational termination (GO:0006415)3.46174575
64AMP metabolic process (GO:0046033)3.44924904
65positive regulation of respiratory burst (GO:0060267)3.44854875
66protein-chromophore linkage (GO:0018298)3.44205600
67peroxisome fission (GO:0016559)3.44042294
68sensory perception of light stimulus (GO:0050953)3.43328490
69protein-lipid complex assembly (GO:0065005)3.42821643
70retinal rod cell development (GO:0046548)3.41084406
71Golgi transport vesicle coating (GO:0048200)3.40220846
72COPI coating of Golgi vesicle (GO:0048205)3.40220846
73neutrophil activation involved in immune response (GO:0002283)3.39772590
74negative regulation of cell size (GO:0045792)3.37358294
75regulation of guanylate cyclase activity (GO:0031282)3.36163482
76regulation of B cell receptor signaling pathway (GO:0050855)3.34036218
77protein carboxylation (GO:0018214)3.33016259
78peptidyl-glutamic acid carboxylation (GO:0017187)3.33016259
79DNA deamination (GO:0045006)3.32388191
80regulation of B cell differentiation (GO:0045577)3.31786913
81regulation of interferon-beta biosynthetic process (GO:0045357)3.30693010
82hexose catabolic process (GO:0019320)3.30412366
83eye photoreceptor cell differentiation (GO:0001754)3.29738839
84photoreceptor cell differentiation (GO:0046530)3.29738839
85proline metabolic process (GO:0006560)3.28757957
86actin filament depolymerization (GO:0030042)3.23728896
87gluconeogenesis (GO:0006094)3.18549311
88signal peptide processing (GO:0006465)3.16427090
89negative regulation of mast cell activation (GO:0033004)3.15722500
90extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)3.12614053
91B cell receptor signaling pathway (GO:0050853)3.09938395
92response to nitric oxide (GO:0071731)3.08831512
93type I interferon signaling pathway (GO:0060337)3.07452413
94cellular response to type I interferon (GO:0071357)3.07452413
95response to type I interferon (GO:0034340)3.03751122
96negative regulation of interleukin-8 production (GO:0032717)3.01729396
97cellular response to zinc ion (GO:0071294)3.01114301
98hexose biosynthetic process (GO:0019319)3.00598683
99defense response to protozoan (GO:0042832)2.98929289
100peptidyl-arginine omega-N-methylation (GO:0035247)2.97011904
101regulation of cholesterol esterification (GO:0010872)2.94687445
102T cell migration (GO:0072678)2.94124555
103antigen processing and presentation via MHC class Ib (GO:0002475)2.93189097
104monosaccharide catabolic process (GO:0046365)2.92715417
105polyketide metabolic process (GO:0030638)2.89817905
106doxorubicin metabolic process (GO:0044598)2.89817905
107daunorubicin metabolic process (GO:0044597)2.89817905
108very-low-density lipoprotein particle assembly (GO:0034379)2.89647923
109protein maturation by protein folding (GO:0022417)2.89441380
110transcription from mitochondrial promoter (GO:0006390)2.88375364
111establishment of skin barrier (GO:0061436)2.87447865
112response to protozoan (GO:0001562)2.84953362
113creatine metabolic process (GO:0006600)2.84685787
114leukocyte aggregation (GO:0070486)2.84535765
115negative regulation of fibrinolysis (GO:0051918)2.83995151
116amyloid precursor protein catabolic process (GO:0042987)2.83670450
117monosaccharide biosynthetic process (GO:0046364)2.83557319
118retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)2.82552613
119cellular response to light stimulus (GO:0071482)2.82146908
120negative regulation of keratinocyte proliferation (GO:0010839)2.82082873
121regulation of relaxation of muscle (GO:1901077)2.81976596
122regulation of antigen processing and presentation of peptide antigen (GO:0002583)2.81386695
123regulation of NIK/NF-kappaB signaling (GO:1901222)2.80267008
124viral life cycle (GO:0019058)2.78761446
125cellular protein complex disassembly (GO:0043624)2.78359013
126mannosylation (GO:0097502)2.77219431
127toxin transport (GO:1901998)2.76755434
128retina homeostasis (GO:0001895)2.75500528
129melanin biosynthetic process (GO:0042438)2.75489331
130neutrophil mediated immunity (GO:0002446)2.75456786
131SRP-dependent cotranslational protein targeting to membrane (GO:0006614)2.73889291
132positive regulation of antigen processing and presentation (GO:0002579)2.72704865
133regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)2.72555150
134protein prenylation (GO:0018342)2.72275216
135prenylation (GO:0097354)2.72275216
136positive regulation of triglyceride lipase activity (GO:0061365)2.71076267
137positive regulation of lipoprotein lipase activity (GO:0051006)2.71076267
138protein complex disassembly (GO:0043241)2.70184346
139mature B cell differentiation involved in immune response (GO:0002313)2.67748912
140nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)2.66504563
141base-excision repair, AP site formation (GO:0006285)2.66362211
142DNA ligation (GO:0006266)2.66054464
143peptidyl-cysteine modification (GO:0018198)2.65807143
144protein targeting to ER (GO:0045047)2.65726383
145detection of external stimulus (GO:0009581)2.64973440
146fructose metabolic process (GO:0006000)2.64379552
147regulation of water loss via skin (GO:0033561)2.64179268
148cotranslational protein targeting to membrane (GO:0006613)2.64049119
149glucose metabolic process (GO:0006006)2.64025629
150* pyrimidine nucleoside salvage (GO:0043097)2.63853641
151* pyrimidine-containing compound salvage (GO:0008655)2.63853641
152protein retention in ER lumen (GO:0006621)2.63602268
153purine-containing compound salvage (GO:0043101)2.63334968
154cell-cell junction maintenance (GO:0045217)2.62739958
155peptidyl-arginine methylation (GO:0018216)2.62100460
156peptidyl-arginine N-methylation (GO:0035246)2.62100460
157* cellular metabolic compound salvage (GO:0043094)2.61127713
158L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.60928686
159melanin metabolic process (GO:0006582)2.60622968
160detection of abiotic stimulus (GO:0009582)2.60254937
161protein insertion into membrane (GO:0051205)2.59742327
162positive regulation of epidermis development (GO:0045684)2.57956632
163UV protection (GO:0009650)2.56932125
164macromolecular complex disassembly (GO:0032984)2.56165183
165positive regulation of synapse maturation (GO:0090129)2.56110761
166DNA synthesis involved in DNA repair (GO:0000731)2.55929956
167heart contraction (GO:0060047)2.55034773
168heart process (GO:0003015)2.55034773
169mast cell degranulation (GO:0043303)2.54095582
170mast cell activation involved in immune response (GO:0002279)2.54095582
171sequestering of actin monomers (GO:0042989)2.53137630
172positive regulation of natural killer cell differentiation (GO:0032825)2.53053952
173nicotinamide nucleotide metabolic process (GO:0046496)2.52193043
174positive regulation of T cell mediated cytotoxicity (GO:0001916)2.49499414
175barbed-end actin filament capping (GO:0051016)2.48412370
176I-kappaB kinase/NF-kappaB signaling (GO:0007249)2.47810469
177positive regulation of type I interferon-mediated signaling pathway (GO:0060340)2.47731616
178regulation of respiratory burst (GO:0060263)2.44443257
179protein import into peroxisome matrix (GO:0016558)2.44234084
180positive regulation of interferon-alpha production (GO:0032727)2.43626163
181GPI anchor biosynthetic process (GO:0006506)2.43392400
182negative T cell selection (GO:0043383)2.42634771
183negative thymic T cell selection (GO:0045060)2.42400059
184regulation of antigen receptor-mediated signaling pathway (GO:0050854)2.42375090
185leukocyte degranulation (GO:0043299)2.41020327
186negative regulation of viral genome replication (GO:0045071)2.40713959
187myeloid dendritic cell activation (GO:0001773)2.39942064
188positive regulation of interleukin-2 biosynthetic process (GO:0045086)2.38954800
189mature B cell differentiation (GO:0002335)2.38910391
190negative regulation of glycoprotein biosynthetic process (GO:0010561)2.38300217
191glucose 6-phosphate metabolic process (GO:0051156)2.38106238
192leukotriene biosynthetic process (GO:0019370)2.37636306
193antigen receptor-mediated signaling pathway (GO:0050851)2.36737137
194regulation of T cell receptor signaling pathway (GO:0050856)2.36630880
195negative regulation of erythrocyte differentiation (GO:0045647)2.32342703
196myeloid cell activation involved in immune response (GO:0002275)2.32320764
197response to interferon-alpha (GO:0035455)2.32276371

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXP3_17237761_ChIP-ChIP_TREG_Mouse4.98175732
2IRF8_22096565_ChIP-ChIP_GC-B_Human4.92152713
3GATA1_22025678_ChIP-Seq_K562_Human4.23435011
4IRF8_22096565_ChIP-ChIP_GC-B_Mouse3.89729438
5MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.35152357
6SCL_19346495_ChIP-Seq_HPC-7_Human3.35083351
7IRF8_21731497_ChIP-ChIP_J774_Mouse3.30164395
8ELF1_17652178_ChIP-ChIP_JURKAT_Human3.09842524
9RUNX1_20887958_ChIP-Seq_HPC-7_Mouse3.07592234
10STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.93864175
11LXR_22292898_ChIP-Seq_THP-1_Human2.88162823
12SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.86456402
13TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.77454579
14LYL1_20887958_ChIP-Seq_HPC-7_Mouse2.60868493
15FLI1_20887958_ChIP-Seq_HPC-7_Mouse2.58011853
16SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.38195106
17MEIS1_20887958_ChIP-Seq_HPC-7_Mouse2.35127288
18STAT4_19710469_ChIP-ChIP_TH1__Mouse2.33740647
19ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.30616622
20NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.30505341
21RUNX_20019798_ChIP-Seq_JUKART_Human2.28489871
22SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.23613961
23IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.23172225
24P68_20966046_ChIP-Seq_HELA_Human2.20997410
25IRF8_27001747_Chip-Seq_BMDM_Mouse2.19012225
26SPI1_23547873_ChIP-Seq_NB4_Human2.13788115
27LMO2_20887958_ChIP-Seq_HPC-7_Mouse2.10444669
28NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.04297171
29RARG_19884340_ChIP-ChIP_MEFs_Mouse2.01737509
30ZNF263_19887448_ChIP-Seq_K562_Human2.00945799
31EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.97198255
32NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.93491452
33RACK7_27058665_Chip-Seq_MCF-7_Human1.93405169
34SRF_21415370_ChIP-Seq_HL-1_Mouse1.90812820
35MYB_26560356_Chip-Seq_TH2_Human1.90130971
36MYB_21317192_ChIP-Seq_ERMYB_Mouse1.88395825
37TET1_21451524_ChIP-Seq_MESCs_Mouse1.86419301
38MYC_18358816_ChIP-ChIP_MESCs_Mouse1.84203520
39KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.84192474
40TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.79762640
41* ELK3_25401928_ChIP-Seq_HUVEC_Human1.79622835
42VDR_21846776_ChIP-Seq_THP-1_Human1.78584585
43* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.75655774
44ERG_20887958_ChIP-Seq_HPC-7_Mouse1.75265714
45SMC4_20622854_ChIP-Seq_HELA_Human1.72472332
46EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.71888246
47DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.71828395
48HOXB4_20404135_ChIP-ChIP_EML_Mouse1.71717088
49SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.71095224
50FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.71040164
51CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.70895948
52BP1_19119308_ChIP-ChIP_Hs578T_Human1.70883850
53RUNX1_22412390_ChIP-Seq_EML_Mouse1.69699277
54GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.64439931
55POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.63599345
56* GATA1_19941827_ChIP-Seq_MEL_Mouse1.61456194
57CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.60462360
58ELF1_20517297_ChIP-Seq_JURKAT_Human1.60147947
59XRN2_22483619_ChIP-Seq_HELA_Human1.59978329
60DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.58077509
61MAF_26560356_Chip-Seq_TH1_Human1.57124734
62GATA1_22383799_ChIP-Seq_G1ME_Mouse1.55761567
63PPARA_22158963_ChIP-Seq_LIVER_Mouse1.55194550
64SPI1_23127762_ChIP-Seq_K562_Human1.52641102
65NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.52528187
66MYC_18555785_ChIP-Seq_MESCs_Mouse1.51562717
67ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.51149108
68SREBP2_21459322_ChIP-Seq_LIVER_Mouse1.50746108
69E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.50446003
70CTCF_27219007_Chip-Seq_ERYTHROID_Human1.49608627
71PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.48594537
72SA1_27219007_Chip-Seq_ERYTHROID_Human1.48217290
73KDM2B_26808549_Chip-Seq_SUP-B15_Human1.47425428
74* RARB_24833708_ChIP-Seq_LIVER_Mouse1.45731093
75GATA3_27048872_Chip-Seq_THYMUS_Human1.44756277
76VDR_24763502_ChIP-Seq_THP-1_Human1.44476143
77UTX_26944678_Chip-Seq_JUKART_Human1.44438906
78STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.44223604
79GABP_19822575_ChIP-Seq_HepG2_Human1.43767991
80MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.42585748
81FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.42549545
82KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.42259686
83ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.41346750
84CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.41183133
85KDM2B_26808549_Chip-Seq_DND41_Human1.40898344
86ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.40513017
87ERG_21242973_ChIP-ChIP_JURKAT_Human1.40116350
88JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.39657378
89GABP_17652178_ChIP-ChIP_JURKAT_Human1.39542091
90MYB_26560356_Chip-Seq_TH1_Human1.38290595
91SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.36539311
92TP63_17297297_ChIP-ChIP_HaCaT_Human1.35898168
93E2F1_20622854_ChIP-Seq_HELA_Human1.35278575
94* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.35101503
95SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.34539300
96CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.34048344
97* TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.33971434
98THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.33703919
99CTCF_27219007_Chip-Seq_Bcells_Human1.33039959
100CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.32065240
101SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.31672573
102CTCF_26484167_Chip-Seq_Bcells_Mouse1.31407516
103PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.30361266
104RARA_24833708_ChIP-Seq_LIVER_Mouse1.29946614
105STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.29884947
106PHF8_20622854_ChIP-Seq_HELA_Human1.29796965
107CIITA_25753668_ChIP-Seq_RAJI_Human1.29209927
108GATA2_22383799_ChIP-Seq_G1ME_Mouse1.28373921
109GATA2_21666600_ChIP-Seq_HMVEC_Human1.28100688
110* MYC_19079543_ChIP-ChIP_MESCs_Mouse1.26698819
111MYC_22102868_ChIP-Seq_BL_Human1.25643244
112* FOXP1_21924763_ChIP-Seq_HESCs_Human1.25567082
113CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.24609373
114HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.24442884
115SRY_22984422_ChIP-ChIP_TESTIS_Rat1.22668923
116PU.1_20513432_ChIP-Seq_Bcells_Mouse1.22072438
117ZFP281_18757296_ChIP-ChIP_E14_Mouse1.21787282
118GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.21451996
119BCL6_27268052_Chip-Seq_Bcells_Human1.20874900
120FOXP3_21729870_ChIP-Seq_TREG_Human1.20453112
121MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.19718959
122SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.19612354
123UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.19540731
124* ETS1_20019798_ChIP-Seq_JURKAT_Human1.19356383
125VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.19329861
126BRD4_27068464_Chip-Seq_AML-cells_Mouse1.18552169
127MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.18421037
128NOTCH1_21737748_ChIP-Seq_TLL_Human1.18362806
129PU_27001747_Chip-Seq_BMDM_Mouse1.17449956
130RXR_22158963_ChIP-Seq_LIVER_Mouse1.16727595
131* ZFX_18555785_ChIP-Seq_MESCs_Mouse1.16506987
132TP53_22127205_ChIP-Seq_IMR90_Human1.16475120
133GATA3_26560356_Chip-Seq_TH2_Human1.16162189
134NCOR1_26117541_ChIP-Seq_K562_Human1.15923763
135CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.15559530
136SA1_27219007_Chip-Seq_Bcells_Human1.14457069
137PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.14297589
138YY1_22570637_ChIP-Seq_MALME-3M_Human1.14101257
139CREB1_26743006_Chip-Seq_LNCaP_Human1.13323937
140DNAJC2_21179169_ChIP-ChIP_NT2_Human1.10925062
141ESR1_15608294_ChIP-ChIP_MCF-7_Human1.09578456
142STAT3_1855785_ChIP-Seq_MESCs_Mouse1.09357725
143MAF_26560356_Chip-Seq_TH2_Human1.09314288
144SETDB1_19884255_ChIP-Seq_MESCs_Mouse1.08250191
145CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.08136556
146CTCF_21964334_Chip-Seq_Bcells_Human1.07131534
147CTCF_18555785_ChIP-Seq_MESCs_Mouse1.06669274
148* TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.06300570
149KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.06014527
150TBX5_21415370_ChIP-Seq_HL-1_Mouse1.05536294
151RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.04155002
152CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.02463578
153Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.02431841
154CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.00087714
155EST1_17652178_ChIP-ChIP_JURKAT_Human0.99557038
156EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.99399453
157VDR_23849224_ChIP-Seq_CD4+_Human0.97082750
158HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human0.93701147
159TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.93226643
160P300_27268052_Chip-Seq_Bcells_Human0.88238027
161BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.87969110
162E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.84983192
163PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.83800802
164SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.81750463
165* BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.81699627
166PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse0.81654350
167HCFC1_20581084_ChIP-Seq_MESCs_Mouse0.80382702
168TCF7_22412390_ChIP-Seq_EML_Mouse0.79212553
169BCOR_27268052_Chip-Seq_Bcells_Human0.78570081
170AR_20517297_ChIP-Seq_VCAP_Human0.78479512
171* FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.78243269
172* THAP11_20581084_ChIP-Seq_MESCs_Mouse0.77078624

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003011_delayed_dark_adaptation5.38077073
2MP0005360_urolithiasis5.32220376
3MP0003123_paternal_imprinting5.15891047
4MP0005551_abnormal_eye_electrophysiolog4.67655674
5MP0003950_abnormal_plasma_membrane3.83152628
6MP0005253_abnormal_eye_physiology3.31250648
7MP0001835_abnormal_antigen_presentation3.10542074
8MP0005671_abnormal_response_to2.76949862
9MP0001348_abnormal_lacrimal_gland2.71841275
10MP0009785_altered_susceptibility_to2.67698009
11MP0003122_maternal_imprinting2.65889799
12MP0006072_abnormal_retinal_apoptosis2.62042858
13MP0000685_abnormal_immune_system2.62007708
14MP0005058_abnormal_lysosome_morphology2.45096339
15MP0002638_abnormal_pupillary_reflex2.45014118
16MP0002163_abnormal_gland_morphology2.32225319
17MP0003763_abnormal_thymus_physiology2.29118200
18MP0005330_cardiomyopathy2.26496416
19MP0000747_muscle_weakness2.25507174
20MP0008875_abnormal_xenobiotic_pharmacok2.17523703
21MP0001790_abnormal_immune_system2.16853575
22MP0005387_immune_system_phenotype2.16853575
23MP0001661_extended_life_span2.13339620
24MP0001800_abnormal_humoral_immune2.10213339
25MP0005025_abnormal_response_to2.05696588
26MP0002148_abnormal_hypersensitivity_rea2.04000550
27MP0002419_abnormal_innate_immunity2.02405140
28MP0002723_abnormal_immune_serum2.02009602
29MP0001324_abnormal_eye_pigmentation2.01180161
30MP0005000_abnormal_immune_tolerance1.98545567
31MP0005464_abnormal_platelet_physiology1.97503707
32MP0003183_abnormal_peptide_metabolism1.94905225
33MP0002420_abnormal_adaptive_immunity1.94507024
34MP0002452_abnormal_antigen_presenting1.93957437
35MP0004145_abnormal_muscle_electrophysio1.93862484
36MP0001819_abnormal_immune_cell1.91032096
37MP0009840_abnormal_foam_cell1.87937980
38MP0010329_abnormal_lipoprotein_level1.83449348
39MP0001986_abnormal_taste_sensitivity1.81607078
40MP0001764_abnormal_homeostasis1.79806404
41MP0000678_abnormal_parathyroid_gland1.76974717
42MP0001346_abnormal_lacrimal_gland1.76378151
43MP0003724_increased_susceptibility_to1.75593746
44MP0000465_gastrointestinal_hemorrhage1.73386947
45MP0003436_decreased_susceptibility_to1.70786347
46MP0005195_abnormal_posterior_eye1.68120409
47MP0001984_abnormal_olfaction1.64373070
48MP0000750_abnormal_muscle_regeneration1.64255888
49MP0000759_abnormal_skeletal_muscle1.63451320
50MP0002166_altered_tumor_susceptibility1.61997361
51MP0003315_abnormal_perineum_morphology1.60319048
52MP0008995_early_reproductive_senescence1.60311249
53MP0002106_abnormal_muscle_physiology1.59332585
54MP0002398_abnormal_bone_marrow1.58851389
55MP0002269_muscular_atrophy1.57633573
56MP0004147_increased_porphyrin_level1.55423626
57MP0000716_abnormal_immune_system1.53171245
58MP0004087_abnormal_muscle_fiber1.51879324
59MP0003121_genomic_imprinting1.43014649
60MP0004233_abnormal_muscle_weight1.41478471
61MP0002396_abnormal_hematopoietic_system1.41364082
62MP0003866_abnormal_defecation1.40816639
63MP0000689_abnormal_spleen_morphology1.40796945
64MP0000538_abnormal_urinary_bladder1.40618207
65MP0002229_neurodegeneration1.40297474
66MP0003172_abnormal_lysosome_physiology1.39288461
67MP0000015_abnormal_ear_pigmentation1.38742458
68MP0003656_abnormal_erythrocyte_physiolo1.38370472
69MP0005075_abnormal_melanosome_morpholog1.38125772
70MP0002139_abnormal_hepatobiliary_system1.37540385
71MP0005391_vision/eye_phenotype1.37416186
72MP0002249_abnormal_larynx_morphology1.34511752
73MP0005257_abnormal_intraocular_pressure1.30604148
74MP0002429_abnormal_blood_cell1.30072160
75MP0008469_abnormal_protein_level1.29498356
76MP0010155_abnormal_intestine_physiology1.29396928
77MP0005670_abnormal_white_adipose1.28034310
78MP0000003_abnormal_adipose_tissue1.27500073
79MP0002722_abnormal_immune_system1.25493445
80MP0001853_heart_inflammation1.24880252
81MP0004510_myositis1.23824455
82MP0005167_abnormal_blood-brain_barrier1.22852872
83MP0001845_abnormal_inflammatory_respons1.22717681
84MP0000749_muscle_degeneration1.21596591
85MP0006082_CNS_inflammation1.21507427
86MP0002822_catalepsy1.21377253
87MP0002089_abnormal_postnatal_growth/wei1.20719876
88MP0005369_muscle_phenotype1.19765902
89MP0000372_irregular_coat_pigmentation1.19692426
90MP0009333_abnormal_splenocyte_physiolog1.19233506
91MP0002405_respiratory_system_inflammati1.17891513
92MP0005174_abnormal_tail_pigmentation1.16514117
93MP0004185_abnormal_adipocyte_glucose1.15843509
94MP0002653_abnormal_ependyma_morphology1.14395698
95MP0005379_endocrine/exocrine_gland_phen1.13568905
96MP0002933_joint_inflammation1.13005664
97MP0005310_abnormal_salivary_gland1.08773403
98MP0009764_decreased_sensitivity_to1.05638165
99MP0003186_abnormal_redox_activity1.05146210
100MP0003646_muscle_fatigue1.02944068
101MP0002090_abnormal_vision1.01588328
102MP0006036_abnormal_mitochondrial_physio1.01075182
103MP0004381_abnormal_hair_follicle0.96291049
104MP0001533_abnormal_skeleton_physiology0.94969759
105MP0004858_abnormal_nervous_system0.94825941
106MP0001270_distended_abdomen0.92363783
107MP0005666_abnormal_adipose_tissue0.92085986
108MP0005451_abnormal_body_composition0.91741386
109MP0003191_abnormal_cellular_cholesterol0.91692479
110MP0004947_skin_inflammation0.89805233
111MP0005332_abnormal_amino_acid0.89466643
112MP0005375_adipose_tissue_phenotype0.88925154
113MP0006138_congestive_heart_failure0.88396139
114MP0005409_darkened_coat_color0.88254579
115MP0002332_abnormal_exercise_endurance0.87626587
116MP0001873_stomach_inflammation0.86149401
117MP0003221_abnormal_cardiomyocyte_apopto0.85222503
118MP0002006_tumorigenesis0.84989725
119MP0002118_abnormal_lipid_homeostasis0.83043338
120MP0003806_abnormal_nucleotide_metabolis0.82942064
121MP0000920_abnormal_myelination0.81990020
122MP0005584_abnormal_enzyme/coenzyme_acti0.81317678
123MP0005365_abnormal_bile_salt0.81226635
124MP0002132_abnormal_respiratory_system0.81145430
125MP0001666_abnormal_nutrient_absorption0.80746159
126MP0006035_abnormal_mitochondrial_morpho0.79448191
127MP0003878_abnormal_ear_physiology0.79245980
128MP0005377_hearing/vestibular/ear_phenot0.79245980
129MP0004036_abnormal_muscle_relaxation0.79176484
130MP0000703_abnormal_thymus_morphology0.79165401
131MP0003879_abnormal_hair_cell0.78937129
132MP0003279_aneurysm0.78759212
133MP0000639_abnormal_adrenal_gland0.76376724
134MP0000467_abnormal_esophagus_morphology0.75772166
135MP0000343_altered_response_to0.75640698
136MP0002837_dystrophic_cardiac_calcinosis0.75527997
137MP0000858_altered_metastatic_potential0.74396846
138MP0010630_abnormal_cardiac_muscle0.74210078
139MP0009765_abnormal_xenobiotic_induced0.73820985
140MP0005394_taste/olfaction_phenotype0.73812109
141MP0005499_abnormal_olfactory_system0.73812109
142MP0002095_abnormal_skin_pigmentation0.73311830
143MP0006054_spinal_hemorrhage0.72884582
144MP0003943_abnormal_hepatobiliary_system0.70752466
145MP0008789_abnormal_olfactory_epithelium0.70508782
146MP0009672_abnormal_birth_weight0.70215525
147MP0003786_premature_aging0.69494934
148MP0002932_abnormal_joint_morphology0.68998267
149MP0000733_abnormal_muscle_development0.68675828
150MP0002693_abnormal_pancreas_physiology0.68286812
151MP0000013_abnormal_adipose_tissue0.67689666
152MP0006292_abnormal_olfactory_placode0.66281241
153MP0005197_abnormal_uvea_morphology0.65945091
154MP0002078_abnormal_glucose_homeostasis0.65898484
155MP0009384_cardiac_valve_regurgitation0.65375083
156MP0008260_abnormal_autophagy0.64456988
157MP0004264_abnormal_extraembryonic_tissu0.64181956
158MP0000767_abnormal_smooth_muscle0.63326639
159MP0009763_increased_sensitivity_to0.62776709
160MP0009642_abnormal_blood_homeostasis0.62003480
161MP0000598_abnormal_liver_morphology0.61692668
162MP0003119_abnormal_digestive_system0.61635614
163MP0005334_abnormal_fat_pad0.60935430
164MP0005266_abnormal_metabolism0.60769578
165MP0009697_abnormal_copulation0.60045672
166MP0001905_abnormal_dopamine_level0.59997151
167MP0004808_abnormal_hematopoietic_stem0.59953690
168MP0002972_abnormal_cardiac_muscle0.58076510
169MP0001502_abnormal_circadian_rhythm0.56999839
170MP0000751_myopathy0.56674660
171MP0001663_abnormal_digestive_system0.56059131
172MP0002970_abnormal_white_adipose0.55993891
173MP0000609_abnormal_liver_physiology0.55384140
174MP0009643_abnormal_urine_homeostasis0.54914967

Predicted human phenotypes

RankGene SetZ-score
1Congenital stationary night blindness (HP:0007642)7.96659393
2Bony spicule pigmentary retinopathy (HP:0007737)7.11313836
3Absent rod-and cone-mediated responses on ERG (HP:0007688)6.79811198
4Abnormal rod and cone electroretinograms (HP:0008323)6.76177858
5Achilles tendon contracture (HP:0001771)6.47395165
6Abnormality of the Achilles tendon (HP:0005109)6.12151772
7Difficulty running (HP:0009046)6.00161492
8Pigmentary retinal degeneration (HP:0001146)5.96537919
9Abolished electroretinogram (ERG) (HP:0000550)4.69629745
10Attenuation of retinal blood vessels (HP:0007843)4.67980855
11Chorioretinal atrophy (HP:0000533)4.61063021
12Pendular nystagmus (HP:0012043)4.54483218
13Central scotoma (HP:0000603)4.45300294
14Opisthotonus (HP:0002179)4.37813871
15Deep venous thrombosis (HP:0002625)4.34030811
16Dyschromatopsia (HP:0007641)4.12107565
17Scotoma (HP:0000575)3.90293931
18Myopathic facies (HP:0002058)3.83344380
19Ulnar deviation of the wrist (HP:0003049)3.81640731
20Abnormality of macular pigmentation (HP:0008002)3.78338542
21Exercise-induced myalgia (HP:0003738)3.69560924
22Poor suck (HP:0002033)3.56799587
23Decreased central vision (HP:0007663)3.52253815
24Hemorrhage of the eye (HP:0011885)3.44735769
25Photophobia (HP:0000613)3.39792673
26Severe visual impairment (HP:0001141)3.37479824
27Recurrent bacterial skin infections (HP:0005406)3.32620685
28Retinitis pigmentosa (HP:0000510)3.28410286
29Recurrent abscess formation (HP:0002722)3.27706394
30Elevated erythrocyte sedimentation rate (HP:0003565)3.20517111
31Mildly elevated creatine phosphokinase (HP:0008180)3.12717562
32Keratoconus (HP:0000563)3.09109978
33Increased corneal curvature (HP:0100692)3.09109978
34Type II diabetes mellitus (HP:0005978)3.07678980
35Hip dysplasia (HP:0001385)3.00673399
36Muscle fiber inclusion bodies (HP:0100299)3.00567788
37Small epiphyses (HP:0010585)2.98056272
38Myositis (HP:0100614)2.95340406
39Panhypogammaglobulinemia (HP:0003139)2.94822574
40Hip contracture (HP:0003273)2.92840745
41Rhabdomyolysis (HP:0003201)2.92083382
42Macular degeneration (HP:0000608)2.88495192
43Chronic otitis media (HP:0000389)2.87576422
44Testicular neoplasm (HP:0010788)2.87499409
45Constricted visual fields (HP:0001133)2.87216879
46Distal upper limb amyotrophy (HP:0007149)2.86419389
47Upper limb amyotrophy (HP:0009129)2.86419389
48Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)2.84885009
49Joint hemorrhage (HP:0005261)2.83670822
50Centrally nucleated skeletal muscle fibers (HP:0003687)2.81454009
51Nemaline bodies (HP:0003798)2.78025444
52Prolonged partial thromboplastin time (HP:0003645)2.74205591
53J-shaped sella turcica (HP:0002680)2.69820720
54Cholecystitis (HP:0001082)2.69535697
55Abnormal gallbladder physiology (HP:0012438)2.69535697
56Scapular winging (HP:0003691)2.66166098
57Cone-rod dystrophy (HP:0000548)2.63085790
58Gowers sign (HP:0003391)2.54764642
59Ragged-red muscle fibers (HP:0003200)2.54553972
60Thrombocytosis (HP:0001894)2.53187079
61Easy fatigability (HP:0003388)2.53082550
62Hand muscle atrophy (HP:0009130)2.52508912
63Stridor (HP:0010307)2.46864232
64Nephrogenic diabetes insipidus (HP:0009806)2.45216707
65Growth hormone excess (HP:0000845)2.43641894
66Waddling gait (HP:0002515)2.41415851
67Type 1 muscle fiber predominance (HP:0003803)2.41235877
68Progressive visual loss (HP:0000529)2.40869843
69Increased neuronal autofluorescent lipopigment (HP:0002074)2.40634398
70Fasciculations (HP:0002380)2.39356743
71IgM deficiency (HP:0002850)2.38558463
72Recurrent skin infections (HP:0001581)2.38138366
73Myoglobinuria (HP:0002913)2.38076905
74Optic disc pallor (HP:0000543)2.36967948
75Gonadal dysgenesis (HP:0000133)2.35805486
76Petechiae (HP:0000967)2.35286462
77Abnormality of macrophages (HP:0004311)2.34068939
78Hypoplasia of the pons (HP:0012110)2.32731556
79Congenital primary aphakia (HP:0007707)2.32610128
80Type I transferrin isoform profile (HP:0003642)2.32102214
81Choroideremia (HP:0001139)2.31760974
82Abnormality of B cell number (HP:0010975)2.31136071
83B lymphocytopenia (HP:0010976)2.31136071
84Interstitial pulmonary disease (HP:0006530)2.30293932
85Distal lower limb muscle weakness (HP:0009053)2.26568873
86Nasal speech (HP:0001611)2.26558938
87Exercise-induced muscle cramps (HP:0003710)2.25590598
88Decreased electroretinogram (ERG) amplitude (HP:0000654)2.24483594
89Vacuolated lymphocytes (HP:0001922)2.24376387
90Progressive microcephaly (HP:0000253)2.23884707
91Gastrointestinal stroma tumor (HP:0100723)2.23171071
92Severe combined immunodeficiency (HP:0004430)2.21940236
93Limited hip movement (HP:0008800)2.20789790
94Lymphopenia (HP:0001888)2.20777176
95Recurrent viral infections (HP:0004429)2.20451593
96Abnormality of long-chain fatty-acid metabolism (HP:0010964)2.20357570
97Hyperacusis (HP:0010780)2.19470462
98Eczematoid dermatitis (HP:0000976)2.18905100
99Abnormality of glycolysis (HP:0004366)2.18316250
100Gait imbalance (HP:0002141)2.18111311
101Hepatocellular necrosis (HP:0001404)2.17270429
102Neoplasm of head and neck (HP:0012288)2.17087112
103Esophageal neoplasm (HP:0100751)2.17087112
104Reticulocytosis (HP:0001923)2.16711650
105Medial flaring of the eyebrow (HP:0010747)2.16186871
106Hypoplasia of the thymus (HP:0000778)2.15927213
107Hepatic necrosis (HP:0002605)2.14575224
108Decreased activity of mitochondrial respiratory chain (HP:0008972)2.13606536
109Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.13606536
110Increased connective tissue (HP:0009025)2.11197933
111Bulbar palsy (HP:0001283)2.10163026
112Abnormality of aromatic amino acid family metabolism (HP:0004338)2.10021785
113Retinal atrophy (HP:0001105)2.08923599
114Poor coordination (HP:0002370)2.08603169
115Gout (HP:0001997)2.07389714
116Testicular atrophy (HP:0000029)2.06871201
117Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.06220925
118Abnormal protein N-linked glycosylation (HP:0012347)2.06220925
119Abnormal protein glycosylation (HP:0012346)2.06220925
120Abnormal glycosylation (HP:0012345)2.06220925
121Increased cerebral lipofuscin (HP:0011813)2.05851622
122Cholelithiasis (HP:0001081)2.05493035
123Abnormality of cells of the lymphoid lineage (HP:0012140)2.04869321
124Abnormality of the fingertips (HP:0001211)2.03527111
125Recurrent fungal infections (HP:0002841)1.98285406
126Posterior subcapsular cataract (HP:0007787)1.97457592
127Dysostosis multiplex (HP:0000943)1.96556653
128Vitreoretinal degeneration (HP:0000655)1.95035948
129Generalized aminoaciduria (HP:0002909)1.94734945
130Hypercholesterolemia (HP:0003124)1.94551875
131Delayed epiphyseal ossification (HP:0002663)1.93652151
132Distal lower limb amyotrophy (HP:0008944)1.93581487
133Thyroiditis (HP:0100646)1.93038475
134Abnormality of the vocal cords (HP:0008777)1.92836312
135Degeneration of anterior horn cells (HP:0002398)1.90973822
136Abnormality of the anterior horn cell (HP:0006802)1.90973822
137Abnormality of the pons (HP:0007361)1.90188614
138Exercise intolerance (HP:0003546)1.89703312
139Neck muscle weakness (HP:0000467)1.86654282
140Optic neuritis (HP:0100653)1.86584944
141Retrobulbar optic neuritis (HP:0100654)1.86584944
142Abnormality of the musculature of the hand (HP:0001421)1.86557170
143Abnormality of the periventricular white matter (HP:0002518)1.84018941
144Vasculitis (HP:0002633)1.83967930
145Hyperglycinemia (HP:0002154)1.83197582
146Recurrent bronchitis (HP:0002837)1.83085301
147Abnormality of fatty-acid metabolism (HP:0004359)1.82234496
148Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)1.81855242
149Orchitis (HP:0100796)1.81755406
150Xanthomatosis (HP:0000991)1.81134851
151Round ear (HP:0100830)1.80677462
152Vertebral compression fractures (HP:0002953)1.78600733
153Abnormal mitochondria in muscle tissue (HP:0008316)1.77776215
154EMG: myopathic abnormalities (HP:0003458)1.77720218
155Combined immunodeficiency (HP:0005387)1.77656834
156Prominent metopic ridge (HP:0005487)1.77077616
157Aplasia/Hypoplasia involving the femoral head and neck (HP:0009108)1.76678280
158Increased serum pyruvate (HP:0003542)1.76544718
159Loss of speech (HP:0002371)1.76529182
160Aplasia/Hypoplasia of the brainstem (HP:0007362)1.75459410
161Hypoplasia of the brainstem (HP:0002365)1.75459410
162Meningitis (HP:0001287)1.74641172
163Albinism (HP:0001022)1.74570252
164Eosinophilia (HP:0001880)1.74028807
165Prolonged neonatal jaundice (HP:0006579)1.73632058
166Cerebral aneurysm (HP:0004944)1.72286697
167Chronic diarrhea (HP:0002028)1.72151030
168Increased serum ferritin (HP:0003281)1.71443588
169Short femoral neck (HP:0100864)1.71145098
170Asymmetric septal hypertrophy (HP:0001670)1.70862388
171Abnormal gallbladder morphology (HP:0012437)1.70433076
172Progressive hearing impairment (HP:0001730)1.69320843
173Increased muscle lipid content (HP:0009058)1.69308658
174Agammaglobulinemia (HP:0004432)1.69137776
175Progressive neurologic deterioration (HP:0002344)1.69120885
176Abnormality of eosinophils (HP:0001879)1.66276069
177Hypertriglyceridemia (HP:0002155)1.65967446
178Abnormality of small intestinal villus morphology (HP:0011472)1.65847429
179Villous atrophy (HP:0011473)1.65847429
180Malignant hyperthermia (HP:0002047)1.65589527
181Granulocytopenia (HP:0001913)1.64503791
182Abnormality of the lower motor neuron (HP:0002366)1.64307764
183Leukocytosis (HP:0001974)1.63962530
184Seborrheic dermatitis (HP:0001051)1.63900949
185Hypothermia (HP:0002045)1.62815550
186Increased intramyocellular lipid droplets (HP:0012240)1.62734310
187Abnormality of the shoulder girdle musculature (HP:0001435)1.62728858
188Muscle stiffness (HP:0003552)1.62712185
189Mucopolysacchariduria (HP:0008155)1.62654362
190Urinary glycosaminoglycan excretion (HP:0003541)1.62654362
191Hypoproteinemia (HP:0003075)1.62237209
192Sudden death (HP:0001699)1.62128008
193Brushfield spots (HP:0001088)1.61494004
194Aplasia/Hypoplasia of the fovea (HP:0008060)1.61189815
195Thin ribs (HP:0000883)1.60590189
196Primary adrenal insufficiency (HP:0008207)1.60484770
197Self-mutilation (HP:0000742)1.57157914

Predicted kinase interactions (KEA)

RankGene SetZ-score
1LIMK14.94228643
2TESK13.78130267
3MAP4K13.67622633
4TRIB33.23944014
5KIT3.01266565
6FLT32.85992631
7GRK12.80753822
8INSRR2.80116718
9TXK2.52129131
10PBK2.51669544
11TBK12.44153919
12TYK22.43184745
13MAP3K142.43174852
14MYLK2.37517957
15ICK2.35072085
16EPHA22.30193194
17TEC2.26296845
18IRAK42.22609385
19BTK2.07445519
20ZAP702.06779765
21TGFBR21.99277923
22TNIK1.98771254
23JAK31.93291518
24TAOK31.93181054
25ARAF1.93068848
26CSF1R1.89545957
27TESK21.83095969
28ITK1.82714816
29SRPK11.81130819
30CDC42BPA1.77925221
31IKBKE1.65725267
32TRPM71.57263649
33MUSK1.55918773
34MAP2K31.55326643
35SIK31.54790929
36SYK1.54625709
37PHKG21.50285524
38PHKG11.50285524
39NME11.48834501
40MAP4K21.48018708
41PRPF4B1.44137009
42PINK11.38247583
43LMTK21.34371943
44ERN11.31441645
45PRKD21.31343765
46MST1R1.31266762
47BCKDK1.29686042
48LCK1.29540814
49DYRK1B1.28284108
50JAK11.25930377
51MAP2K61.21804279
52SMG11.21433175
53MAP3K111.19836535
54IKBKB1.19055190
55MAPK121.18536802
56PKN21.17227049
57TAOK11.17000291
58FGFR41.15043055
59NLK1.14092044
60BLK1.11243177
61CLK11.09857248
62PDPK11.08717761
63TAOK21.07539873
64MAPKAPK31.03498320
65CCNB11.01377601
66BMPR20.97943239
67MAP3K120.97359156
68WNK40.97230120
69NEK90.96464880
70HIPK20.96119574
71MARK20.95567185
72LYN0.93166313
73PDK10.92969681
74RIPK10.92566404
75CDK120.91932942
76MAP2K70.91687749
77TNK20.91063019
78PAK10.87035972
79CDK40.86935128
80GRK70.86867014
81OBSCN0.85124568
82IRAK30.85052192
83TTN0.83446473
84KDR0.83275877
85PDK20.80875364
86MAP2K20.80505053
87EPHB10.78958774
88PIK3CG0.77561046
89PASK0.76929343
90EEF2K0.76643648
91MTOR0.76161570
92CDK190.75725609
93MAPK110.75494522
94MAPK70.73880422
95CSK0.71886646
96PTK60.70710178
97JAK20.68744938
98HCK0.67915126
99PRKG20.66785951
100MAP3K70.66588400
101PRKD10.65598445
102SIK20.65333356
103ADRBK20.63322091
104PIM20.63033871
105MAPK150.62095722
106FES0.61103843
107STK100.57105832
108MAPKAPK20.56691593
109MAP3K10.55754324
110AURKA0.55511537
111PTK20.55412981
112MAP3K130.55265503
113CDK70.54339890
114BRAF0.53269577
115YES10.53160548
116SCYL20.51395571
117RIPK40.50811484
118MATK0.50410836
119CAMK2D0.49902104
120CHUK0.49487305
121MAP3K60.48663867
122BMX0.48237961
123NTRK10.46806612
124MAP3K30.45827829
125CAMK10.45088189
126VRK10.44559285
127MET0.43799126
128TYRO30.43547230
129PRKAA10.43461583
130MAPK40.42903181
131PRKCQ0.42788867
132NME20.42694261
133MAPK30.42353111
134TGFBR10.41434703
135LRRK20.40729028
136MAP3K90.40127485
137ILK0.39996350
138STK240.39152719
139RPS6KA20.39145451
140PAK40.38628912
141STK160.38020619
142EPHA30.37992752
143CAMK2G0.37927257
144PRKCI0.37917347
145MARK30.37829358
146PKN10.37386338
147IGF1R0.37187558
148MOS0.36157610
149PRKCD0.35988363
150CSNK2A20.35576983
151RPS6KC10.33754184
152RPS6KL10.33754184
153MAP2K40.33466032
154RPS6KA50.33134449
155EIF2AK20.32957500
156STK40.32488584
157MAP3K100.32274324
158SGK20.31983205
159MST40.31573189
160SIK10.30989526
161PRKAA20.29689575
162RPS6KA60.29659644
163ABL20.29445367
164PRKCH0.29440340
165IRAK10.28242655
166IRAK20.28211674
167GRK60.28198302

Predicted pathways (KEGG)

RankGene SetZ-score
1Phototransduction_Homo sapiens_hsa047449.97707215
2Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.69522264
32-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.42226338
4Primary immunodeficiency_Homo sapiens_hsa053403.20332099
5Butirosin and neomycin biosynthesis_Homo sapiens_hsa005242.48115398
6Biosynthesis of amino acids_Homo sapiens_hsa012301.92739200
7Cyanoamino acid metabolism_Homo sapiens_hsa004601.89182215
8Protein export_Homo sapiens_hsa030601.85327781
9Fat digestion and absorption_Homo sapiens_hsa049751.84006201
10Other glycan degradation_Homo sapiens_hsa005111.78412279
11Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.76287948
12NF-kappa B signaling pathway_Homo sapiens_hsa040641.73905694
13Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.73496406
14Fatty acid elongation_Homo sapiens_hsa000621.62299584
15Galactose metabolism_Homo sapiens_hsa000521.62069699
16Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.60491922
17Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.58215770
18RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.55909696
19Arginine biosynthesis_Homo sapiens_hsa002201.53103999
20Phenylalanine metabolism_Homo sapiens_hsa003601.48192779
21Arginine and proline metabolism_Homo sapiens_hsa003301.45970315
22Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.45553640
23Measles_Homo sapiens_hsa051621.37901571
24Intestinal immune network for IgA production_Homo sapiens_hsa046721.35714960
25Leishmaniasis_Homo sapiens_hsa051401.32505161
26Complement and coagulation cascades_Homo sapiens_hsa046101.30972797
27Lysosome_Homo sapiens_hsa041421.29795602
28SNARE interactions in vesicular transport_Homo sapiens_hsa041301.29355155
29B cell receptor signaling pathway_Homo sapiens_hsa046621.28409230
30Hematopoietic cell lineage_Homo sapiens_hsa046401.26953710
31ABC transporters_Homo sapiens_hsa020101.26639179
32Sulfur metabolism_Homo sapiens_hsa009201.26007875
33Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.24467936
34Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.23188192
35Folate biosynthesis_Homo sapiens_hsa007901.22286433
36Caffeine metabolism_Homo sapiens_hsa002321.18399869
37Maturity onset diabetes of the young_Homo sapiens_hsa049501.18103577
38N-Glycan biosynthesis_Homo sapiens_hsa005101.17779171
39Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.14726620
40Toll-like receptor signaling pathway_Homo sapiens_hsa046201.13732994
41Insulin signaling pathway_Homo sapiens_hsa049101.13148849
42NOD-like receptor signaling pathway_Homo sapiens_hsa046211.12003938
43Peroxisome_Homo sapiens_hsa041461.10229920
44Glycosaminoglycan degradation_Homo sapiens_hsa005311.08002086
45Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.06558589
46Antigen processing and presentation_Homo sapiens_hsa046121.02803297
47Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.01844239
48Non-homologous end-joining_Homo sapiens_hsa034500.99395364
49Osteoclast differentiation_Homo sapiens_hsa043800.97907872
50Malaria_Homo sapiens_hsa051440.94572364
51Glucagon signaling pathway_Homo sapiens_hsa049220.93533049
52Herpes simplex infection_Homo sapiens_hsa051680.92391688
53DNA replication_Homo sapiens_hsa030300.90847488
54Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.89190656
55Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.88738113
56Fatty acid degradation_Homo sapiens_hsa000710.88449368
57Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.87643203
58Cysteine and methionine metabolism_Homo sapiens_hsa002700.83850475
59Thyroid cancer_Homo sapiens_hsa052160.83423843
60Legionellosis_Homo sapiens_hsa051340.82366094
61T cell receptor signaling pathway_Homo sapiens_hsa046600.80702782
62Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.80401992
63Allograft rejection_Homo sapiens_hsa053300.80006887
64Jak-STAT signaling pathway_Homo sapiens_hsa046300.78068137
65Notch signaling pathway_Homo sapiens_hsa043300.76978700
66Pertussis_Homo sapiens_hsa051330.76339605
67Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.75924762
68Fructose and mannose metabolism_Homo sapiens_hsa000510.75615486
69Sulfur relay system_Homo sapiens_hsa041220.73206545
70Tyrosine metabolism_Homo sapiens_hsa003500.73142161
71Pentose and glucuronate interconversions_Homo sapiens_hsa000400.72476580
72Vitamin digestion and absorption_Homo sapiens_hsa049770.69083149
73Proteasome_Homo sapiens_hsa030500.68825369
74Ribosome_Homo sapiens_hsa030100.68416571
75Arachidonic acid metabolism_Homo sapiens_hsa005900.67640995
76AMPK signaling pathway_Homo sapiens_hsa041520.67331571
77Staphylococcus aureus infection_Homo sapiens_hsa051500.67075689
78Lysine degradation_Homo sapiens_hsa003100.66725749
79Central carbon metabolism in cancer_Homo sapiens_hsa052300.66712431
80* Drug metabolism - other enzymes_Homo sapiens_hsa009830.65213086
81Influenza A_Homo sapiens_hsa051640.63331686
82Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.63003748
83Starch and sucrose metabolism_Homo sapiens_hsa005000.62309167
84Chemokine signaling pathway_Homo sapiens_hsa040620.61055353
85Prion diseases_Homo sapiens_hsa050200.60742751
86Shigellosis_Homo sapiens_hsa051310.60171967
87Pentose phosphate pathway_Homo sapiens_hsa000300.59011702
88Selenocompound metabolism_Homo sapiens_hsa004500.58838537
89Ether lipid metabolism_Homo sapiens_hsa005650.57810951
90Toxoplasmosis_Homo sapiens_hsa051450.57467716
91Cardiac muscle contraction_Homo sapiens_hsa042600.57318442
92Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.54248401
93PPAR signaling pathway_Homo sapiens_hsa033200.53830342
94Graft-versus-host disease_Homo sapiens_hsa053320.51990967
95Hepatitis C_Homo sapiens_hsa051600.51617085
96Tuberculosis_Homo sapiens_hsa051520.51482010
97Steroid biosynthesis_Homo sapiens_hsa001000.50617779
98* Pyrimidine metabolism_Homo sapiens_hsa002400.50355365
99Fatty acid metabolism_Homo sapiens_hsa012120.50218707
100Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.50033037
101Rheumatoid arthritis_Homo sapiens_hsa053230.49938918
102Propanoate metabolism_Homo sapiens_hsa006400.48575571
103Acute myeloid leukemia_Homo sapiens_hsa052210.46632430
104Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.46240307
105Purine metabolism_Homo sapiens_hsa002300.45444734
106Dilated cardiomyopathy_Homo sapiens_hsa054140.44759653
107Oxidative phosphorylation_Homo sapiens_hsa001900.44584652
108alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.44550654
109Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.43856271
110Leukocyte transendothelial migration_Homo sapiens_hsa046700.43127281
111Adipocytokine signaling pathway_Homo sapiens_hsa049200.43125428
112Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.42842915
113Viral myocarditis_Homo sapiens_hsa054160.42465896
114Glutathione metabolism_Homo sapiens_hsa004800.41850529
115Base excision repair_Homo sapiens_hsa034100.41729802
116Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.41677160
117Glycerolipid metabolism_Homo sapiens_hsa005610.41635759
118Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.40552155
119Vibrio cholerae infection_Homo sapiens_hsa051100.40545295
120Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.40416531
121TNF signaling pathway_Homo sapiens_hsa046680.39986880
122Apoptosis_Homo sapiens_hsa042100.39809110
123VEGF signaling pathway_Homo sapiens_hsa043700.39688307
124Glycerophospholipid metabolism_Homo sapiens_hsa005640.38539718
125Alzheimers disease_Homo sapiens_hsa050100.37793026
126Retinol metabolism_Homo sapiens_hsa008300.37233774
127Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.37175676
128Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.36976432
129Salmonella infection_Homo sapiens_hsa051320.36769367
130Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.36712904
131Sphingolipid metabolism_Homo sapiens_hsa006000.36511659
132Circadian rhythm_Homo sapiens_hsa047100.35216235
133Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.35019455
134HIF-1 signaling pathway_Homo sapiens_hsa040660.34809659
135Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.34794886
136* Metabolic pathways_Homo sapiens_hsa011000.34183909
137Linoleic acid metabolism_Homo sapiens_hsa005910.33463672
138Thyroid hormone signaling pathway_Homo sapiens_hsa049190.31813030
139Carbon metabolism_Homo sapiens_hsa012000.30776377
140Parkinsons disease_Homo sapiens_hsa050120.30751524
141Platelet activation_Homo sapiens_hsa046110.30330096
142Olfactory transduction_Homo sapiens_hsa047400.30275584
143Pyruvate metabolism_Homo sapiens_hsa006200.29514363
144Insulin resistance_Homo sapiens_hsa049310.29270229
145Huntingtons disease_Homo sapiens_hsa050160.27956640
146Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.26619562
147Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.26111990
148Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.23619800
149Bile secretion_Homo sapiens_hsa049760.20014439
150Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.19301700
151Endocytosis_Homo sapiens_hsa041440.17869843
152Butanoate metabolism_Homo sapiens_hsa006500.14520298

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