EIF4EBP3

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a member of the EIF4EBP family, which consists of proteins that bind to eukaryotic translation initiation factor 4E and regulate its assembly into EIF4F, the multi-subunit translation initiation factor that recognizes the mRNA cap structure. Read-through transcription from the neighboring upstream gene (MASK or ANKHD1) generates a transcript (MASK-BP3) that encodes a protein comprised of the MASK protein sequence for the majority of the protein and a different C-terminus due to an alternate reading frame for the EIF4EBP3 segments. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.35877170
2L-phenylalanine catabolic process (GO:0006559)7.35877170
3L-phenylalanine metabolic process (GO:0006558)7.14705830
4erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)7.14705830
5aromatic amino acid family catabolic process (GO:0009074)6.52365535
6urea cycle (GO:0000050)5.92389908
7urea metabolic process (GO:0019627)5.92389908
8triglyceride-rich lipoprotein particle remodeling (GO:0034370)5.92040863
9tryptophan catabolic process (GO:0006569)5.79957935
10indole-containing compound catabolic process (GO:0042436)5.79957935
11indolalkylamine catabolic process (GO:0046218)5.79957935
12glyoxylate metabolic process (GO:0046487)5.72593660
13sulfur amino acid catabolic process (GO:0000098)5.71488894
14bile acid biosynthetic process (GO:0006699)5.57733061
15nitrogen cycle metabolic process (GO:0071941)5.46360669
16kynurenine metabolic process (GO:0070189)5.44762140
17tryptophan metabolic process (GO:0006568)5.43030691
18high-density lipoprotein particle remodeling (GO:0034375)5.32428126
19cysteine metabolic process (GO:0006534)5.23707850
20negative regulation of fibrinolysis (GO:0051918)5.10996971
21regulation of triglyceride catabolic process (GO:0010896)5.10051808
22flavonoid metabolic process (GO:0009812)5.03045333
23cellular ketone body metabolic process (GO:0046950)4.95639820
24regulation of fibrinolysis (GO:0051917)4.92487158
25regulation of cholesterol esterification (GO:0010872)4.86593584
26cellular glucuronidation (GO:0052695)4.83797527
27bile acid metabolic process (GO:0008206)4.81313845
28homocysteine metabolic process (GO:0050667)4.81063814
29regulation of protein activation cascade (GO:2000257)4.80594215
30complement activation, alternative pathway (GO:0006957)4.77389761
31aromatic amino acid family metabolic process (GO:0009072)4.77013100
32serine family amino acid catabolic process (GO:0009071)4.76018517
33macromolecular complex remodeling (GO:0034367)4.73806492
34plasma lipoprotein particle remodeling (GO:0034369)4.73806492
35protein-lipid complex remodeling (GO:0034368)4.73806492
36protein carboxylation (GO:0018214)4.68680806
37peptidyl-glutamic acid carboxylation (GO:0017187)4.68680806
38tyrosine metabolic process (GO:0006570)4.66703623
39phospholipid efflux (GO:0033700)4.65621553
40reverse cholesterol transport (GO:0043691)4.64233700
41negative regulation of sterol transport (GO:0032372)4.54700302
42negative regulation of cholesterol transport (GO:0032375)4.54700302
43aldehyde catabolic process (GO:0046185)4.49178817
44glucuronate metabolic process (GO:0019585)4.45660872
45uronic acid metabolic process (GO:0006063)4.45660872
46regulation of complement activation (GO:0030449)4.45051666
47ribosomal small subunit assembly (GO:0000028)4.44467291
48bile acid and bile salt transport (GO:0015721)4.39938940
49DNA deamination (GO:0045006)4.38077546
50triglyceride homeostasis (GO:0070328)4.35829015
51acylglycerol homeostasis (GO:0055090)4.35829015
52alpha-amino acid catabolic process (GO:1901606)4.33501302
53arginine metabolic process (GO:0006525)4.31350632
54pyrimidine deoxyribonucleotide catabolic process (GO:0009223)4.30389656
55amino-acid betaine metabolic process (GO:0006577)4.29317629
56ketone body metabolic process (GO:1902224)4.27353886
57alpha-linolenic acid metabolic process (GO:0036109)4.23487440
58viral transcription (GO:0019083)4.22265080
59protein complex biogenesis (GO:0070271)4.19792772
60fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.18728707
61indolalkylamine metabolic process (GO:0006586)4.07974208
62acute-phase response (GO:0006953)4.07472442
63coenzyme catabolic process (GO:0009109)4.05677161
64translational termination (GO:0006415)4.03854729
65cellular amino acid catabolic process (GO:0009063)4.03779846
66ribosomal small subunit biogenesis (GO:0042274)4.03740774
67lysine catabolic process (GO:0006554)4.03324964
68lysine metabolic process (GO:0006553)4.03324964
69cytochrome complex assembly (GO:0017004)4.02493270
70cellular biogenic amine catabolic process (GO:0042402)4.00163835
71amine catabolic process (GO:0009310)4.00163835
72energy coupled proton transport, down electrochemical gradient (GO:0015985)3.99026900
73ATP synthesis coupled proton transport (GO:0015986)3.99026900
74positive regulation of triglyceride lipase activity (GO:0061365)3.96904436
75positive regulation of lipoprotein lipase activity (GO:0051006)3.96904436
76mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.96701450
77plasma lipoprotein particle clearance (GO:0034381)3.94781576
78respiratory chain complex IV assembly (GO:0008535)3.91774634
79mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.91607939
80mitochondrial respiratory chain complex I assembly (GO:0032981)3.91607939
81NADH dehydrogenase complex assembly (GO:0010257)3.91607939
82blood coagulation, intrinsic pathway (GO:0007597)3.89328730
83serine family amino acid metabolic process (GO:0009069)3.88266420
84glycine metabolic process (GO:0006544)3.86480026
85negative regulation of lipase activity (GO:0060192)3.86422456
86benzene-containing compound metabolic process (GO:0042537)3.86192247
87imidazole-containing compound metabolic process (GO:0052803)3.85281344
88chaperone-mediated protein transport (GO:0072321)3.85235824
89cofactor catabolic process (GO:0051187)3.84860565
90deoxyribonucleotide catabolic process (GO:0009264)3.83418250
91heme transport (GO:0015886)3.82735476
92mitochondrial respiratory chain complex assembly (GO:0033108)3.81955351
93glutamate metabolic process (GO:0006536)3.77540914
94cholesterol efflux (GO:0033344)3.76867855
95plasma lipoprotein particle assembly (GO:0034377)3.74951612
96low-density lipoprotein particle remodeling (GO:0034374)3.73993498
97purine deoxyribonucleotide catabolic process (GO:0009155)3.73643250
98NAD biosynthetic process (GO:0009435)3.73535578
99response to nitrosative stress (GO:0051409)3.73333201
100serine family amino acid biosynthetic process (GO:0009070)3.71836267
101fibrinolysis (GO:0042730)3.71251292
102cellular modified amino acid catabolic process (GO:0042219)3.69654129
103oxidative phosphorylation (GO:0006119)3.65598928
104regulation of bile acid biosynthetic process (GO:0070857)3.65485946
105epoxygenase P450 pathway (GO:0019373)3.58707796
106deoxyribose phosphate catabolic process (GO:0046386)3.57964958
107cholesterol homeostasis (GO:0042632)3.57839160
108phospholipid homeostasis (GO:0055091)3.57660035
109plasma lipoprotein particle organization (GO:0071827)3.56652758
110organic acid catabolic process (GO:0016054)3.55715780
111carboxylic acid catabolic process (GO:0046395)3.55715780
112cellular response to interferon-beta (GO:0035458)3.55629603
113maturation of SSU-rRNA (GO:0030490)3.54021718
114sterol homeostasis (GO:0055092)3.53516321
115base-excision repair, AP site formation (GO:0006285)3.52992711
116SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.50315311
117protein activation cascade (GO:0072376)3.49870169
118pyrimidine nucleotide catabolic process (GO:0006244)3.49446917
119drug catabolic process (GO:0042737)3.47489250
120pyridine nucleotide biosynthetic process (GO:0019363)3.47400780
121nicotinamide nucleotide biosynthetic process (GO:0019359)3.47400780
122exogenous drug catabolic process (GO:0042738)3.47011056
123cytolysis (GO:0019835)3.46466634
124protein targeting to ER (GO:0045047)3.46307127
125positive regulation of heterotypic cell-cell adhesion (GO:0034116)3.46087826
126rRNA modification (GO:0000154)3.46075710
127response to interferon-beta (GO:0035456)3.45922238
128translational elongation (GO:0006414)3.44942958
129drug metabolic process (GO:0017144)3.44715305
130cotranslational protein targeting to membrane (GO:0006613)3.42910858
131positive regulation of lipid catabolic process (GO:0050996)3.41984878
132regulation of mitochondrial translation (GO:0070129)3.36330412
133protein localization to endoplasmic reticulum (GO:0070972)3.35506769
134establishment of protein localization to mitochondrial membrane (GO:0090151)3.34013868
135regulation of antigen processing and presentation of peptide antigen (GO:0002583)3.31834246
136electron transport chain (GO:0022900)3.30887554
137respiratory electron transport chain (GO:0022904)3.30473239
138establishment of protein localization to endoplasmic reticulum (GO:0072599)3.24478564
139valine metabolic process (GO:0006573)3.18166206
140viral life cycle (GO:0019058)3.15562524
141ribosomal large subunit biogenesis (GO:0042273)3.15341507
142mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.10026325
143deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.07102101
144negative regulation of B cell apoptotic process (GO:0002903)3.06018350
145positive regulation of B cell differentiation (GO:0045579)3.02823669
146aerobic respiration (GO:0009060)2.98230861
147mannosylation (GO:0097502)2.97421696
148nucleotide salvage (GO:0043173)2.96104283
149pyrimidine deoxyribonucleotide metabolic process (GO:0009219)2.94030492
150immunoglobulin mediated immune response (GO:0016064)2.90640092
151tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.88655656
152RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.88655656
153cellular protein complex disassembly (GO:0043624)2.87506616
154purine nucleotide salvage (GO:0032261)2.84676527
155nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)2.78729485
156positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)2.77797182
157protein neddylation (GO:0045116)2.77633884
158iron-sulfur cluster assembly (GO:0016226)2.77563770
159metallo-sulfur cluster assembly (GO:0031163)2.77563770
160phosphatidylglycerol biosynthetic process (GO:0006655)2.73588208
161cytidine catabolic process (GO:0006216)2.71630240
162cytidine deamination (GO:0009972)2.71630240
163cytidine metabolic process (GO:0046087)2.71630240
164cellular component biogenesis (GO:0044085)2.70927277
165negative regulation of inflammatory response to antigenic stimulus (GO:0002862)2.68367581
1662-deoxyribonucleotide metabolic process (GO:0009394)2.67773555
167preassembly of GPI anchor in ER membrane (GO:0016254)2.65730405
168regulation of B cell apoptotic process (GO:0002902)2.63409266
169ATP biosynthetic process (GO:0006754)2.62306139
170purine ribonucleoside triphosphate biosynthetic process (GO:0009206)2.61344986
171hydrogen ion transmembrane transport (GO:1902600)2.60998692
172translational initiation (GO:0006413)2.60600940
173purine nucleoside triphosphate biosynthetic process (GO:0009145)2.60449291
174translation (GO:0006412)2.58447619
175GTP biosynthetic process (GO:0006183)2.58301334
176nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.56645844
177cellular response to thyroid hormone stimulus (GO:0097067)2.56449495
178exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.54550820
179transcription elongation from RNA polymerase III promoter (GO:0006385)2.54087360
180termination of RNA polymerase III transcription (GO:0006386)2.54087360
181GDP-mannose metabolic process (GO:0019673)2.53528475
182pseudouridine synthesis (GO:0001522)2.52543704
183granulocyte differentiation (GO:0030851)2.50974447
184cellular response to ATP (GO:0071318)2.50399501
185deoxyribose phosphate metabolic process (GO:0019692)2.50350348
186positive regulation of prostaglandin secretion (GO:0032308)2.49130875
187cellular response to exogenous dsRNA (GO:0071360)2.48977341
188positive regulation of gamma-delta T cell activation (GO:0046645)2.47466033
189autophagic vacuole fusion (GO:0000046)2.47380094
190purine deoxyribonucleotide metabolic process (GO:0009151)2.46439793
191phosphorylated carbohydrate dephosphorylation (GO:0046838)2.40062109
192inositol phosphate dephosphorylation (GO:0046855)2.40062109
193cyclooxygenase pathway (GO:0019371)2.39407595
194deoxyribonucleoside triphosphate metabolic process (GO:0009200)2.38590805
195B cell mediated immunity (GO:0019724)2.36600936
196purinergic nucleotide receptor signaling pathway (GO:0035590)2.36195380
197piRNA metabolic process (GO:0034587)2.35982248
198proton transport (GO:0015992)2.35677778
199protein targeting to mitochondrion (GO:0006626)2.35616822
200mitochondrial calcium ion transport (GO:0006851)2.35409102

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* RXR_22158963_ChIP-Seq_LIVER_Mouse7.85687891
2PPARA_22158963_ChIP-Seq_LIVER_Mouse6.78862449
3EGR1_23403033_ChIP-Seq_LIVER_Mouse6.75008814
4LXR_22158963_ChIP-Seq_LIVER_Mouse5.75072005
5* CEBPA_23403033_ChIP-Seq_LIVER_Mouse5.34133323
6* FOXO1_23066095_ChIP-Seq_LIVER_Mouse5.13873172
7PPARG_19300518_ChIP-PET_3T3-L1_Mouse5.07965459
8BP1_19119308_ChIP-ChIP_Hs578T_Human4.80063432
9TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat4.18787954
10CEBPB_23403033_ChIP-Seq_LIVER_Mouse4.00938743
11NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.31649005
12ELF1_17652178_ChIP-ChIP_JURKAT_Human3.30452167
13JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.05684770
14GABP_17652178_ChIP-ChIP_JURKAT_Human3.03202208
15KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.93157104
16ETS1_20019798_ChIP-Seq_JURKAT_Human2.61327361
17NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.50837530
18HNF4A_19761587_ChIP-ChIP_CACO-2_Human2.39685074
19EST1_17652178_ChIP-ChIP_JURKAT_Human2.37751017
20HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.16791214
21FLI1_20887958_ChIP-Seq_HPC-7_Mouse2.14083609
22HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.09457322
23VDR_21846776_ChIP-Seq_THP-1_Human2.04310570
24SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.02522918
25LYL1_20887958_ChIP-Seq_HPC-7_Mouse2.01024367
26* ESR1_17901129_ChIP-ChIP_LIVER_Mouse11.5779104
27TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.98891215
28MYC_18358816_ChIP-ChIP_MESCs_Mouse1.95995425
29IRF8_21731497_ChIP-ChIP_J774_Mouse1.95722629
30MYC_18555785_ChIP-Seq_MESCs_Mouse1.93404370
31SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.93123896
32TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.85621579
33EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.82610132
34* VDR_23849224_ChIP-Seq_CD4+_Human1.80612927
35STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.75594102
36* FOXP3_21729870_ChIP-Seq_TREG_Human1.75537644
37TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.73382980
38CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.72770601
39THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.71455453
40SPI1_23547873_ChIP-Seq_NB4_Human1.62619998
41IRF8_22096565_ChIP-ChIP_GC-B_Human1.61979047
42BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.57006663
43* ELF1_20517297_ChIP-Seq_JURKAT_Human1.55110684
44SCL_19346495_ChIP-Seq_HPC-7_Human1.54632676
45GABP_19822575_ChIP-Seq_HepG2_Human1.50356346
46LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.48173276
47CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.46984336
48STAT1_20625510_ChIP-Seq_HELA_Human1.45596961
49* P68_20966046_ChIP-Seq_HELA_Human1.43386264
50MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.39298333
51CREB1_15753290_ChIP-ChIP_HEK293T_Human1.39102309
52SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.38389648
53MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.36490603
54SOX2_27498859_Chip-Seq_STOMACH_Mouse1.35114922
55YY1_22570637_ChIP-Seq_MALME-3M_Human1.34474236
56* P300_27268052_Chip-Seq_Bcells_Human1.34049918
57MAF_26560356_Chip-Seq_TH2_Human1.31973578
58IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.31674779
59THAP11_20581084_ChIP-Seq_MESCs_Mouse1.30192052
60ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.29921914
61* E2F1_20622854_ChIP-Seq_HELA_Human1.29242183
62VDR_24763502_ChIP-Seq_THP-1_Human1.28299437
63HOXB4_20404135_ChIP-ChIP_EML_Mouse1.27338384
64HNF4A_19822575_ChIP-Seq_HepG2_Human1.26957442
65EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.26276748
66HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.25928264
67GATA1_22025678_ChIP-Seq_K562_Human1.23287240
68SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.23181596
69CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.22932607
70YY1_21170310_ChIP-Seq_MESCs_Mouse1.22809232
71HTT_18923047_ChIP-ChIP_STHdh_Human1.22724381
72RXRA_24833708_ChIP-Seq_LIVER_Mouse1.21607445
73* PHF8_20622854_ChIP-Seq_HELA_Human1.21372979
74CDX2_20551321_ChIP-Seq_CACO-2_Human1.18917804
75FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.17953231
76RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.15822505
77* XRN2_22483619_ChIP-Seq_HELA_Human1.13619040
78E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.12787976
79MYB_26560356_Chip-Seq_TH2_Human1.11880488
80TTF2_22483619_ChIP-Seq_HELA_Human1.11537595
81TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.11331219
82E2F1_18555785_ChIP-Seq_MESCs_Mouse1.10087804
83FOXA2_19822575_ChIP-Seq_HepG2_Human1.08869404
84CTCF_26484167_Chip-Seq_Bcells_Mouse1.08694658
85SRY_22984422_ChIP-ChIP_TESTIS_Rat1.08390537
86STAT4_19710469_ChIP-ChIP_TH1__Mouse1.06199409
87SPI1_20517297_ChIP-Seq_HL60_Human1.05574977
88PU.1_20513432_ChIP-Seq_Bcells_Mouse1.04959252
89* RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.04603879
90DCP1A_22483619_ChIP-Seq_HELA_Human1.02994302
91BMI1_19503595_ChIP-Seq_MEFsC_Mouse1.02560414
92E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.02226204
93MYC_19030024_ChIP-ChIP_MESCs_Mouse1.02174406
94ERG_20887958_ChIP-Seq_HPC-7_Mouse1.02038977
95CTCF_21964334_Chip-Seq_Bcells_Human1.01829358
96* FOXP1_21924763_ChIP-Seq_HESCs_Human1.00944531
97CLOCK_20551151_ChIP-Seq_293T_Human1.00871554
98STAT3_1855785_ChIP-Seq_MESCs_Mouse1.00588281
99* UTX_26944678_Chip-Seq_JUKART_Human1.00563652
100ZFP42_18358816_ChIP-ChIP_MESCs_Mouse0.99571216
101RARG_19884340_ChIP-ChIP_MEFs_Mouse0.99410836
102SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.98013122
103CTCF_18555785_ChIP-Seq_MESCs_Mouse0.96616832
104EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.96572915
105CIITA_25753668_ChIP-Seq_RAJI_Human0.96387347
106SA1_27219007_Chip-Seq_ERYTHROID_Human0.96312215
107* NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.96181836
108MAF_26560356_Chip-Seq_TH1_Human0.96120059
109GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.95895746
110SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.95024143
111GATA3_26560356_Chip-Seq_TH2_Human0.94493637
112PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse0.94397396
113CTCF_21964334_ChIP-Seq_BJAB-B_Human0.94237725
114GATA4_25053715_ChIP-Seq_YYC3_Human0.93447377
115ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.92435906
116PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.85153208
117RARA_24833708_ChIP-Seq_LIVER_Mouse0.84977628
118RAD21_21589869_ChIP-Seq_MESCs_Mouse0.84907702
119SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.80715782
120KAP1_22055183_ChIP-Seq_ESCs_Mouse0.79836241
121NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.78715627
122ESR1_15608294_ChIP-ChIP_MCF-7_Human0.77317762
123STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.72663318
124CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.72238194
125GATA6_25053715_ChIP-Seq_YYC3_Human0.71975546
126SOX2_20726797_ChIP-Seq_SW620_Human0.71459334
127TRIM28_21343339_ChIP-Seq_HEK293_Human0.71287471
128PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.69389035
129PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.68451677
130CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.67428944
131EGR1_19032775_ChIP-ChIP_M12_Human0.67037875
132AR_20517297_ChIP-Seq_VCAP_Human0.66144634
133TET1_21451524_ChIP-Seq_MESCs_Mouse0.65916307
134RARB_24833708_ChIP-Seq_LIVER_Mouse0.64982025
135Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.63883056
136LXR_22292898_ChIP-Seq_THP-1_Human0.63838255
137IRF8_22096565_ChIP-ChIP_GC-B_Mouse0.62909138
138IRF1_19129219_ChIP-ChIP_H3396_Human0.62906753
139AUTS2_25519132_ChIP-Seq_293T-REX_Human0.62710172
140OCT4_18692474_ChIP-Seq_MEFs_Mouse0.61465888
141* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.61352602
142ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.60759828
143TAF2_19829295_ChIP-Seq_ESCs_Human0.60700025
144CEBPB_22108803_ChIP-Seq_LS180_Human0.59632677
145GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.59457741
146MYC_19915707_ChIP-ChIP_AK7_Human0.58588813
147FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.57028353
148BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.56056128
149CEBPB_24764292_ChIP-Seq_MC3T3_Mouse0.55752463
150BCL6_27268052_Chip-Seq_Bcells_Human0.55518003
151RUNX1_20887958_ChIP-Seq_HPC-7_Mouse0.53796837
152NANOG_20526341_ChIP-Seq_ESCs_Human0.53273185
153STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.53245850
154PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.53237188
155CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.52821533
156TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.51630839
157GATA1_22383799_ChIP-Seq_G1ME_Mouse0.51611298
158* PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.51300390
159ESET_19884257_ChIP-Seq_ESCs_Mouse0.51205068
160ESR1_21235772_ChIP-Seq_MCF-7_Human0.50967458
161FOXA1_25552417_ChIP-Seq_VCAP_Human0.50777842
162SOX2_18692474_ChIP-Seq_MEFs_Mouse0.49895217
163P53_21459846_ChIP-Seq_SAOS-2_Human0.49530000
164RACK7_27058665_Chip-Seq_MCF-7_Human0.49343556
165SA1_27219007_Chip-Seq_Bcells_Human0.47466560
166CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse0.47105495
167AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.46913800
168SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.46019225
169ESR2_21235772_ChIP-Seq_MCF-7_Human0.45328805
170SRF_21415370_ChIP-Seq_HL-1_Mouse0.44846158
171GATA2_22383799_ChIP-Seq_G1ME_Mouse0.44568874
172* FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.44478072
173CTCF_20526341_ChIP-Seq_ESCs_Human0.44246257
174ETV2_25802403_ChIP-Seq_MESCs_Mouse0.43763427
175BRD4_27068464_Chip-Seq_AML-cells_Mouse0.43472096
176ERG_20517297_ChIP-Seq_VCAP_Human0.43047293
177* BCOR_27268052_Chip-Seq_Bcells_Human0.43005143

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system7.19872936
2MP0005360_urolithiasis6.81563988
3MP0005085_abnormal_gallbladder_physiolo6.21762194
4MP0005365_abnormal_bile_salt5.69449989
5MP0008875_abnormal_xenobiotic_pharmacok5.25723193
6MP0003806_abnormal_nucleotide_metabolis3.96409737
7MP0009840_abnormal_foam_cell3.49098354
8MP0003252_abnormal_bile_duct3.44205659
9MP0010329_abnormal_lipoprotein_level3.20313560
10MP0003191_abnormal_cellular_cholesterol3.16194929
11MP0001666_abnormal_nutrient_absorption2.77012919
12MP0002148_abnormal_hypersensitivity_rea2.73436680
13MP0003195_calcinosis2.72682291
14MP0005332_abnormal_amino_acid2.72344812
15MP0001986_abnormal_taste_sensitivity2.68548866
16MP0001545_abnormal_hematopoietic_system2.68422846
17MP0005397_hematopoietic_system_phenotyp2.68422846
18MP0005083_abnormal_biliary_tract2.63519136
19MP0002138_abnormal_hepatobiliary_system2.51327930
20MP0003868_abnormal_feces_composition2.39429559
21MP0004019_abnormal_vitamin_homeostasis2.32726158
22MP0005671_abnormal_response_to2.19069556
23MP0006292_abnormal_olfactory_placode2.18001782
24MP0005451_abnormal_body_composition2.06514659
25MP0000609_abnormal_liver_physiology1.99652306
26MP0002118_abnormal_lipid_homeostasis1.94144637
27MP0005387_immune_system_phenotype1.90321057
28MP0001790_abnormal_immune_system1.90321057
29MP0001800_abnormal_humoral_immune1.85581642
30MP0002723_abnormal_immune_serum1.84417264
31MP0001764_abnormal_homeostasis1.83758452
32MP0005000_abnormal_immune_tolerance1.81471475
33MP0002822_catalepsy1.79327883
34MP0003787_abnormal_imprinting1.77987855
35MP0005319_abnormal_enzyme/_coenzyme1.74954232
36MP0002452_abnormal_antigen_presenting1.72287941
37MP0009278_abnormal_bone_marrow1.72091174
38MP0000685_abnormal_immune_system1.68850497
39MP0009333_abnormal_splenocyte_physiolog1.66318126
40MP0001853_heart_inflammation1.65567384
41MP0001819_abnormal_immune_cell1.61048554
42MP0002420_abnormal_adaptive_immunity1.60319260
43MP0005584_abnormal_enzyme/coenzyme_acti1.55450765
44MP0003186_abnormal_redox_activity1.51327484
45MP0009697_abnormal_copulation1.50754334
46MP0009643_abnormal_urine_homeostasis1.49043061
47MP0003303_peritoneal_inflammation1.43352982
48MP0005058_abnormal_lysosome_morphology1.37351968
49MP0000689_abnormal_spleen_morphology1.37094236
50MP0005670_abnormal_white_adipose1.32203983
51MP0003011_delayed_dark_adaptation1.31847654
52MP0005646_abnormal_pituitary_gland1.31354726
53MP0002398_abnormal_bone_marrow1.30475468
54MP0002837_dystrophic_cardiac_calcinosis1.30465598
55MP0000716_abnormal_immune_system1.28680816
56MP0009764_decreased_sensitivity_to1.26058938
57MP0000372_irregular_coat_pigmentation1.25996369
58MP0008058_abnormal_DNA_repair1.25990521
59MP0008877_abnormal_DNA_methylation1.25872517
60MP0005636_abnormal_mineral_homeostasis1.25670842
61MP0003646_muscle_fatigue1.23276879
62MP0003656_abnormal_erythrocyte_physiolo1.21798791
63MP0003763_abnormal_thymus_physiology1.18629661
64MP0002405_respiratory_system_inflammati1.18068393
65MP0002277_abnormal_respiratory_mucosa1.16527722
66MP0000343_altered_response_to1.16313679
67MP0001905_abnormal_dopamine_level1.12911703
68MP0002653_abnormal_ependyma_morphology1.12476998
69MP0002722_abnormal_immune_system1.12326053
70MP0002429_abnormal_blood_cell1.11822374
71MP0000598_abnormal_liver_morphology1.10853644
72MP0008469_abnormal_protein_level1.08502354
73MP0003705_abnormal_hypodermis_morpholog1.07231712
74MP0010368_abnormal_lymphatic_system1.01573664
75MP0009763_increased_sensitivity_to1.00699570
76MP0005084_abnormal_gallbladder_morpholo0.97624260
77MP0009379_abnormal_foot_pigmentation0.93825230
78MP0005376_homeostasis/metabolism_phenot0.93760627
79MP0002254_reproductive_system_inflammat0.93750008
80MP0005408_hypopigmentation0.91163624
81MP0005167_abnormal_blood-brain_barrier0.90974813
82MP0005410_abnormal_fertilization0.89615216
83MP0009642_abnormal_blood_homeostasis0.89032657
84MP0005645_abnormal_hypothalamus_physiol0.88907966
85MP0005310_abnormal_salivary_gland0.88618031
86MP0004142_abnormal_muscle_tone0.88311730
87MP0006036_abnormal_mitochondrial_physio0.87223654
88MP0000465_gastrointestinal_hemorrhage0.85815452
89MP0002163_abnormal_gland_morphology0.85812336
90MP0002638_abnormal_pupillary_reflex0.85336482
91MP0001968_abnormal_touch/_nociception0.85273690
92MP0003724_increased_susceptibility_to0.83231371
93MP0005647_abnormal_sex_gland0.82195504
94MP0005266_abnormal_metabolism0.81653428
95MP0003786_premature_aging0.81406918
96MP0009765_abnormal_xenobiotic_induced0.81342288
97MP0003866_abnormal_defecation0.79504431
98MP0003436_decreased_susceptibility_to0.79335421
99MP0001533_abnormal_skeleton_physiology0.79138355
100MP0005464_abnormal_platelet_physiology0.78944484
101MP0001661_extended_life_span0.77570601
102MP0009785_altered_susceptibility_to0.76619441
103MP0002876_abnormal_thyroid_physiology0.75420873
104MP0005165_increased_susceptibility_to0.74068870
105MP0001756_abnormal_urination0.73430298
106MP0008004_abnormal_stomach_pH0.70956746
107MP0005377_hearing/vestibular/ear_phenot0.70549332
108MP0003878_abnormal_ear_physiology0.70549332
109MP0005174_abnormal_tail_pigmentation0.69749580
110MP0010155_abnormal_intestine_physiology0.67974674
111MP0008995_early_reproductive_senescence0.67791492
112MP0010386_abnormal_urinary_bladder0.67676686
113MP0003283_abnormal_digestive_organ0.67019455
114MP0000604_amyloidosis0.62993416
115MP0005166_decreased_susceptibility_to0.62075905
116MP0004782_abnormal_surfactant_physiolog0.61983701
117MP0005334_abnormal_fat_pad0.61888806
118MP0008873_increased_physiological_sensi0.61563685
119MP0002136_abnormal_kidney_physiology0.59898363
120MP0001845_abnormal_inflammatory_respons0.59041667
121MP0002971_abnormal_brown_adipose0.58533789
122MP0003718_maternal_effect0.57536017
123MP0005535_abnormal_body_temperature0.57341894
124MP0008872_abnormal_physiological_respon0.56936730
125MP0002078_abnormal_glucose_homeostasis0.56718356
126MP0001663_abnormal_digestive_system0.53877881
127MP0009053_abnormal_anal_canal0.53646550
128MP0003075_altered_response_to0.53525827
129MP0004043_abnormal_pH_regulation0.53481119
130MP0002132_abnormal_respiratory_system0.51981374
131MP0005025_abnormal_response_to0.51297989
132MP0004381_abnormal_hair_follicle0.51124579
133MP0005448_abnormal_energy_balance0.51028155
134MP0005220_abnormal_exocrine_pancreas0.51007216
135MP0005381_digestive/alimentary_phenotyp0.50733290
136MP0003638_abnormal_response/metabolism_0.49165665
137MP0001765_abnormal_ion_homeostasis0.48566115
138MP0002796_impaired_skin_barrier0.47482767
139MP0005666_abnormal_adipose_tissue0.45514798
140MP0001873_stomach_inflammation0.44804449
141MP0006082_CNS_inflammation0.44026963
142MP0000462_abnormal_digestive_system0.43739396
143MP0005075_abnormal_melanosome_morpholog0.43229341
144MP0002419_abnormal_innate_immunity0.43039730
145MP0000230_abnormal_systemic_arterial0.42713612
146MP0000477_abnormal_intestine_morphology0.42038356
147MP0004947_skin_inflammation0.41172775
148MP0005395_other_phenotype0.40687150
149MP0004147_increased_porphyrin_level0.40617245
150MP0005164_abnormal_response_to0.40613492
151MP0003690_abnormal_glial_cell0.39496278
152MP0001835_abnormal_antigen_presentation0.38806664
153MP0000249_abnormal_blood_vessel0.37610792
154MP0004130_abnormal_muscle_cell0.36742743
155MP0000639_abnormal_adrenal_gland0.36607719

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of aromatic amino acid family metabolism (HP:0004338)7.31954076
2Abnormality of monocarboxylic acid metabolism (HP:0010996)7.12222693
3Intrahepatic cholestasis (HP:0001406)6.39400773
4Deep venous thrombosis (HP:0002625)6.12458518
5Prolonged partial thromboplastin time (HP:0003645)5.76400244
6Xanthomatosis (HP:0000991)5.71651046
7Hypobetalipoproteinemia (HP:0003563)5.63965366
8Hyperlipoproteinemia (HP:0010980)5.35522789
9Complement deficiency (HP:0004431)4.94995554
10Abnormality of methionine metabolism (HP:0010901)4.88659033
11Abnormality of aspartate family amino acid metabolism (HP:0010899)4.62863230
12Hyperammonemia (HP:0001987)4.59791922
13Joint hemorrhage (HP:0005261)4.42585900
14Abnormality of sulfur amino acid metabolism (HP:0004339)4.38752555
15Mitochondrial inheritance (HP:0001427)4.37006605
16Hypolipoproteinemia (HP:0010981)4.34905334
17Hepatocellular necrosis (HP:0001404)4.30829313
18Acute necrotizing encephalopathy (HP:0006965)4.22502447
19Abnormality of pyrimidine metabolism (HP:0004353)4.17151437
20Abnormality of glutamine family amino acid metabolism (HP:0010902)4.15239687
21Hypoalphalipoproteinemia (HP:0003233)4.05774161
22Abnormal mitochondria in muscle tissue (HP:0008316)4.03924685
23Petechiae (HP:0000967)4.03034802
24Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.02191732
25Abnormality of the common coagulation pathway (HP:0010990)3.97770620
26Increased CSF lactate (HP:0002490)3.88222961
27Epidermoid cyst (HP:0200040)3.85814056
28Abnormality of complement system (HP:0005339)3.83014425
29Ketosis (HP:0001946)3.77287373
30Hyperglycinemia (HP:0002154)3.75548733
31Elevated erythrocyte sedimentation rate (HP:0003565)3.74596123
32Abnormality of cells of the erythroid lineage (HP:0012130)3.64515057
33Abnormal number of erythroid precursors (HP:0012131)3.64033917
34Fat malabsorption (HP:0002630)3.62663632
35Abnormality of fatty-acid metabolism (HP:0004359)3.57447358
36Spontaneous abortion (HP:0005268)3.57026754
37Hyperglycinuria (HP:0003108)3.49793476
38Hypoglycemic coma (HP:0001325)3.48700389
39Abnormality of the heme biosynthetic pathway (HP:0010472)3.46740499
40Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.44269046
41Progressive macrocephaly (HP:0004481)3.39828331
42Increased intramyocellular lipid droplets (HP:0012240)3.39151812
43Abnormality of the intrinsic pathway (HP:0010989)3.37943596
44Abnormality of serine family amino acid metabolism (HP:0010894)3.32582034
45Abnormality of glycine metabolism (HP:0010895)3.32582034
46Stomatitis (HP:0010280)3.23632713
47Increased muscle lipid content (HP:0009058)3.20517739
48Abnormality of nucleobase metabolism (HP:0010932)3.16747490
49Abnormality of dicarboxylic acid metabolism (HP:0010995)3.13218678
50Dicarboxylic aciduria (HP:0003215)3.13218678
51Abnormality of serum amino acid levels (HP:0003112)3.03249859
52Cerebral edema (HP:0002181)3.01798420
53Lipid accumulation in hepatocytes (HP:0006561)3.01605064
54Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)3.01387050
55Type I transferrin isoform profile (HP:0003642)3.00713179
56Renal Fanconi syndrome (HP:0001994)2.99145990
57Steatorrhea (HP:0002570)2.97964714
58Increased hepatocellular lipid droplets (HP:0006565)2.96980358
59Hyperbilirubinemia (HP:0002904)2.96361783
60Lethargy (HP:0001254)2.93383104
61Hypercholesterolemia (HP:0003124)2.92626339
62Absent rod-and cone-mediated responses on ERG (HP:0007688)2.91740468
63Alkalosis (HP:0001948)2.83190753
64Obstructive lung disease (HP:0006536)2.80527526
65Chronic obstructive pulmonary disease (HP:0006510)2.80527526
66Gout (HP:0001997)2.80477138
67Metabolic acidosis (HP:0001942)2.79885311
68Macrocytic anemia (HP:0001972)2.79335291
69Systemic lupus erythematosus (HP:0002725)2.73219915
70Gingival bleeding (HP:0000225)2.72103777
713-Methylglutaconic aciduria (HP:0003535)2.70055818
72Conjugated hyperbilirubinemia (HP:0002908)2.69086177
73Prolonged bleeding time (HP:0003010)2.68982281
74Agammaglobulinemia (HP:0004432)2.66806460
75Hepatocellular carcinoma (HP:0001402)2.66803299
76Abnormality of purine metabolism (HP:0004352)2.66545517
77Abnormal rod and cone electroretinograms (HP:0008323)2.64209192
78Lactic acidosis (HP:0003128)2.63593786
79Thrombocytosis (HP:0001894)2.63486184
80Recurrent gram-negative bacterial infections (HP:0005420)2.60204196
81Increased serum lactate (HP:0002151)2.59002898
82Reticulocytopenia (HP:0001896)2.57844066
83Sensorimotor neuropathy (HP:0007141)2.57783423
84Amyloidosis (HP:0011034)2.51840954
85Exercise intolerance (HP:0003546)2.51086091
86Delayed CNS myelination (HP:0002188)2.50269119
87Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.47526420
88Spastic diplegia (HP:0001264)2.46242946
89Type 2 muscle fiber atrophy (HP:0003554)2.46074420
90Pallor (HP:0000980)2.41848817
91Microvesicular hepatic steatosis (HP:0001414)2.41751921
92Respiratory failure (HP:0002878)2.41312150
93Generalized aminoaciduria (HP:0002909)2.40739040
94Cerebral palsy (HP:0100021)2.40295250
95Irritability (HP:0000737)2.38483070
96Panhypogammaglobulinemia (HP:0003139)2.38462671
97Testicular atrophy (HP:0000029)2.38217078
98Short middle phalanx of the 5th finger (HP:0004220)2.37326402
99Neonatal onset (HP:0003623)2.36047480
100Vomiting (HP:0002013)2.35041239
101Reduced antithrombin III activity (HP:0001976)2.33395282
102Ketoacidosis (HP:0001993)2.28849501
103Muscle fiber atrophy (HP:0100295)2.25994532
104Myocardial infarction (HP:0001658)2.25343977
105Menorrhagia (HP:0000132)2.25318637
106Decreased activity of mitochondrial respiratory chain (HP:0008972)2.24354114
107Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.24354114
108Skin nodule (HP:0200036)2.23219407
109Pancreatitis (HP:0001733)2.23004593
110Abnormal glycosylation (HP:0012345)2.22395446
111Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.22395446
112Abnormal protein N-linked glycosylation (HP:0012347)2.22395446
113Abnormal protein glycosylation (HP:0012346)2.22395446
114Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.22060284
115Purpura (HP:0000979)2.21542856
116Recurrent fungal infections (HP:0002841)2.21110784
117Abnormal cartilage morphology (HP:0002763)2.20794287
118Optic disc pallor (HP:0000543)2.20496796
119Brushfield spots (HP:0001088)2.18549077
120Vascular calcification (HP:0004934)2.16538138
121Exertional dyspnea (HP:0002875)2.16342641
122Opisthotonus (HP:0002179)2.15156556
123CNS demyelination (HP:0007305)2.14945709
124Glomerulonephritis (HP:0000099)2.14099952
125Neutropenia (HP:0001875)2.13889840
126Thrombophlebitis (HP:0004418)2.12534585
127Esophageal varix (HP:0002040)2.12508434
128Hepatosplenomegaly (HP:0001433)2.11732790
129Respiratory difficulties (HP:0002880)2.10443600
130Renal cortical cysts (HP:0000803)2.10383009
131Abnormal delayed hypersensitivity skin test (HP:0002963)2.09894173
132Chronic mucocutaneous candidiasis (HP:0002728)2.09171480
133Recurrent cutaneous fungal infections (HP:0011370)2.09171480
134Abnormality of iron homeostasis (HP:0011031)2.09053702
135Emotional lability (HP:0000712)2.08744067
136Proximal tubulopathy (HP:0000114)2.08575711
137Abnormality of the prostate (HP:0008775)2.07921274
138Spastic paraparesis (HP:0002313)2.06967302
139Abnormal gallbladder physiology (HP:0012438)2.06042834
140Cholecystitis (HP:0001082)2.06042834
141Decreased electroretinogram (ERG) amplitude (HP:0000654)2.05087642
142Glycosuria (HP:0003076)2.04164736
143Abnormality of urine glucose concentration (HP:0011016)2.04164736
144Hypochromic microcytic anemia (HP:0004840)2.03854776
145Cholelithiasis (HP:0001081)2.03475192
146Acanthocytosis (HP:0001927)2.03190015
147Abnormal gallbladder morphology (HP:0012437)2.03157166
148Late onset (HP:0003584)2.01975197
149Vacuolated lymphocytes (HP:0001922)2.01521507
150Malnutrition (HP:0004395)2.00080411
151Septo-optic dysplasia (HP:0100842)1.99216078
152Abnormality of transition element cation homeostasis (HP:0011030)1.98902214
153Abnormality of dental color (HP:0011073)1.98466194
154Hyperthyroidism (HP:0000836)1.96183038
155Abnormality of B cell number (HP:0010975)1.95183136
156Enlarged kidneys (HP:0000105)1.95135905
157Dynein arm defect of respiratory motile cilia (HP:0012255)1.94384232
158Absent/shortened dynein arms (HP:0200106)1.94384232
159IgG deficiency (HP:0004315)1.93980251
160Elevated hepatic transaminases (HP:0002910)1.93660932
161Increased purine levels (HP:0004368)1.93565831
162Hyperuricemia (HP:0002149)1.93565831
163Nausea (HP:0002018)1.91651596
164Abnormality of vitamin metabolism (HP:0100508)1.91429171
165Methylmalonic aciduria (HP:0012120)1.90579470
166Rickets (HP:0002748)1.87522464
167Myositis (HP:0100614)1.87430657
168Abnormality of the gallbladder (HP:0005264)1.86328113
169Acute encephalopathy (HP:0006846)1.86149207
170Meningitis (HP:0001287)1.85141087
171Abnormality of the middle phalanx of the 5th finger (HP:0004219)1.84994755
172B lymphocytopenia (HP:0010976)1.84963264
173Cardiovascular calcification (HP:0011915)1.84395293
174Abnormality of renal resorption (HP:0011038)1.84301180
175Hepatic necrosis (HP:0002605)1.83419921
176Autoimmune thrombocytopenia (HP:0001973)1.83157076
177Ileus (HP:0002595)1.83122280
178IgM deficiency (HP:0002850)1.82254077
179Hypoglycemic seizures (HP:0002173)1.81921611
180Increased serum ferritin (HP:0003281)1.80916710
181Epistaxis (HP:0000421)1.80762728
182Abnormal respiratory motile cilium morphology (HP:0005938)1.80242265
183Abnormal respiratory epithelium morphology (HP:0012253)1.80242265
184Abnormal respiratory motile cilium physiology (HP:0012261)1.77837048
185Abnormality of T cell physiology (HP:0011840)1.76239279
186Skin rash (HP:0000988)1.74053219
187Mediastinal lymphadenopathy (HP:0100721)1.73531854
188Pancytopenia (HP:0001876)1.73410942
189Prolonged neonatal jaundice (HP:0006579)1.73293372

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK5.99530994
2ERN15.17056362
3MST1R4.28544019
4VRK23.27266879
5FGFR42.85142592
6TBK12.84130039
7ERBB42.75357160
8TXK2.31293832
9ADRBK22.30283774
10MAP4K22.26530221
11NME22.09623145
12STK162.07200779
13TNK22.01306584
14TESK22.00967786
15MAP3K141.93899507
16IKBKE1.90196299
17MAPK111.89876323
18TAOK31.86748779
19FRK1.86116464
20GRK61.78839930
21ZAK1.78494412
22KIT1.77530654
23TYK21.77129339
24IRAK31.74887185
25PDK21.71052478
26MAP3K111.69954585
27RIPK41.68377758
28MAP2K41.65847560
29ABL21.65438551
30CDK191.54251941
31MAP2K21.48818958
32FES1.48643497
33MAP3K31.47259964
34SIK11.42110014
35PBK1.36171466
36ARAF1.35632031
37SYK1.34913501
38MAP2K61.33414530
39PIK3CA1.32304205
40MAP3K71.31602492
41TAOK21.27797630
42INSRR1.25157954
43PIM21.22277939
44KDR1.19926873
45NEK91.15301406
46MAP2K31.15149897
47MAPKAPK31.14881695
48VRK11.13766342
49DYRK21.12839809
50PTK61.07792954
51FLT31.07365412
52EPHB11.05641154
53PIK3CG1.02870658
54JAK21.01214984
55IKBKB0.99914765
56PRKAA20.98766542
57CAMK2G0.98012214
58GRK70.97815501
59MET0.97751730
60BRAF0.94886811
61ERBB20.93861041
62MAPK40.89079185
63CSK0.87413699
64SCYL20.84475356
65MYLK0.83323993
66MATK0.83213159
67DYRK1B0.82953483
68MUSK0.82700648
69PDPK10.82495369
70CDK60.82377155
71DAPK20.81966884
72EIF2AK10.79886630
73EPHB20.79806457
74MARK30.78964921
75OBSCN0.77810463
76CDK80.77109897
77JAK30.76814021
78NLK0.74675861
79CDK90.74209077
80ITK0.72820793
81LATS10.72674091
82MAPK150.71835528
83RPS6KA60.71050602
84DAPK30.70695105
85MAP4K10.68559038
86RPS6KC10.65023396
87RPS6KL10.65023396
88BLK0.64431450
89PKN20.64359278
90PRKG20.63503777
91ZAP700.63071001
92LCK0.61133283
93LRRK20.58493547
94MAP3K120.58153162
95TGFBR20.57570895
96PKN10.56680369
97MAP3K130.56607499
98PRKACG0.55261276
99GRK10.54316697
100RPS6KA50.54020734
101EPHA30.53946752
102PIM10.51660297
103BTK0.50807962
104DAPK10.50777083
105BMPR20.50569572
106OXSR10.48906344
107PDK10.47705195
108IRAK40.47494485
109CDK40.47448480
110HCK0.47157942
111MAP3K50.47146982
112MAP3K20.45664229
113NUAK10.44880075
114JAK10.44168097
115TEC0.43511614
116MAP3K10.42993349
117MAP2K10.41885759
118PLK40.41046056
119MST40.40603936
120PINK10.40588164
121TIE10.40564015
122TLK10.39778382
123ADRBK10.39669572
124CSNK2A20.39013158
125EIF2AK30.38866701
126CSNK2A10.38513899
127GRK50.37652744
128STK40.37030174
129MAP3K80.36252782
130TNIK0.36234396
131IGF1R0.35986496
132PRKCA0.35458313
133NME10.35185887
134MAP3K100.35184317
135AURKA0.34480212
136CHUK0.34369664
137PRKCD0.34326274
138PRKCQ0.34103910
139MAPK30.33681204
140BMPR1B0.33458841
141PRKCI0.33085767
142MAPK120.33083556
143LYN0.32868715
144GSK3A0.32536254
145PRKCZ0.30949295
146TAOK10.30466916
147RPS6KB20.30364297
148CSF1R0.30002621

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.35226431
2Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.45214699
3Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.35192810
4Arginine biosynthesis_Homo sapiens_hsa002203.15194567
5Asthma_Homo sapiens_hsa053102.91485659
6Nitrogen metabolism_Homo sapiens_hsa009102.83830661
7Proteasome_Homo sapiens_hsa030502.75996150
8Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.60075964
9Complement and coagulation cascades_Homo sapiens_hsa046102.55085790
10Pentose and glucuronate interconversions_Homo sapiens_hsa000402.49049740
11Sulfur metabolism_Homo sapiens_hsa009202.47564206
12Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.47456332
13Tryptophan metabolism_Homo sapiens_hsa003802.43699611
14Allograft rejection_Homo sapiens_hsa053302.41549256
15Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.25219255
16Autoimmune thyroid disease_Homo sapiens_hsa053202.25101506
17Fatty acid degradation_Homo sapiens_hsa000712.22267062
18Primary immunodeficiency_Homo sapiens_hsa053402.20546590
19Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.19556079
20Steroid hormone biosynthesis_Homo sapiens_hsa001402.11278978
21Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.10298483
22Graft-versus-host disease_Homo sapiens_hsa053322.08958079
23Butanoate metabolism_Homo sapiens_hsa006502.03302819
24Chemical carcinogenesis_Homo sapiens_hsa052042.03226038
25Peroxisome_Homo sapiens_hsa041462.02261893
26Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.00578923
27Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.96555730
28Type I diabetes mellitus_Homo sapiens_hsa049401.96310616
29Sulfur relay system_Homo sapiens_hsa041221.92347388
30Histidine metabolism_Homo sapiens_hsa003401.91910854
31Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.89374682
32RNA polymerase_Homo sapiens_hsa030201.86254796
33PPAR signaling pathway_Homo sapiens_hsa033201.83474292
34Cysteine and methionine metabolism_Homo sapiens_hsa002701.78622571
35Drug metabolism - other enzymes_Homo sapiens_hsa009831.75090145
36Phenylalanine metabolism_Homo sapiens_hsa003601.74341509
37Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.69427245
38Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.62409197
39Retinol metabolism_Homo sapiens_hsa008301.59517835
40Staphylococcus aureus infection_Homo sapiens_hsa051501.59430774
41Caffeine metabolism_Homo sapiens_hsa002321.58236253
42Selenocompound metabolism_Homo sapiens_hsa004501.57519890
43Propanoate metabolism_Homo sapiens_hsa006401.55879940
44Rheumatoid arthritis_Homo sapiens_hsa053231.53453258
45Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.49833394
46beta-Alanine metabolism_Homo sapiens_hsa004101.48954913
47Folate biosynthesis_Homo sapiens_hsa007901.46536872
48Base excision repair_Homo sapiens_hsa034101.43179280
492-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.42782214
50Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.41895300
51Antigen processing and presentation_Homo sapiens_hsa046121.41493261
52Fatty acid metabolism_Homo sapiens_hsa012121.40767953
53Tyrosine metabolism_Homo sapiens_hsa003501.40440690
54Fat digestion and absorption_Homo sapiens_hsa049751.33595769
55Bile secretion_Homo sapiens_hsa049761.27204152
56Starch and sucrose metabolism_Homo sapiens_hsa005001.26629355
57Biosynthesis of amino acids_Homo sapiens_hsa012301.25842156
58Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.24490418
59SNARE interactions in vesicular transport_Homo sapiens_hsa041301.24324058
60Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.22529391
61Cardiac muscle contraction_Homo sapiens_hsa042601.21476332
62Maturity onset diabetes of the young_Homo sapiens_hsa049501.19263040
63Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.18760375
64Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.17197211
65Fatty acid elongation_Homo sapiens_hsa000621.17015912
66Homologous recombination_Homo sapiens_hsa034401.16441183
67Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.13854754
68Carbon metabolism_Homo sapiens_hsa012001.10864525
69Pyruvate metabolism_Homo sapiens_hsa006201.10023196
70Hematopoietic cell lineage_Homo sapiens_hsa046401.04814140
71Steroid biosynthesis_Homo sapiens_hsa001001.02214889
72Leishmaniasis_Homo sapiens_hsa051400.97906943
73Arginine and proline metabolism_Homo sapiens_hsa003300.94262287
74DNA replication_Homo sapiens_hsa030300.92669026
75Pentose phosphate pathway_Homo sapiens_hsa000300.91792497
76Cyanoamino acid metabolism_Homo sapiens_hsa004600.91775140
77RNA degradation_Homo sapiens_hsa030180.91067341
78ABC transporters_Homo sapiens_hsa020100.90198332
79Vitamin digestion and absorption_Homo sapiens_hsa049770.83608161
80Collecting duct acid secretion_Homo sapiens_hsa049660.82456666
81Fanconi anemia pathway_Homo sapiens_hsa034600.81195076
82Purine metabolism_Homo sapiens_hsa002300.80497981
83Basal transcription factors_Homo sapiens_hsa030220.79665704
84Glutathione metabolism_Homo sapiens_hsa004800.79524132
85Other glycan degradation_Homo sapiens_hsa005110.74890554
86Nucleotide excision repair_Homo sapiens_hsa034200.73473244
87Linoleic acid metabolism_Homo sapiens_hsa005910.72583451
88Viral myocarditis_Homo sapiens_hsa054160.72453147
89alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.69683450
90Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.68942768
91Mismatch repair_Homo sapiens_hsa034300.68015920
92Lysosome_Homo sapiens_hsa041420.67224909
93One carbon pool by folate_Homo sapiens_hsa006700.65711831
94Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.63506970
95Glycosaminoglycan degradation_Homo sapiens_hsa005310.63406322
96Fructose and mannose metabolism_Homo sapiens_hsa000510.62178572
97NF-kappa B signaling pathway_Homo sapiens_hsa040640.61474572
98Metabolic pathways_Homo sapiens_hsa011000.60916177
99Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.56008574
100Herpes simplex infection_Homo sapiens_hsa051680.53895514
101Glycerolipid metabolism_Homo sapiens_hsa005610.53818842
102Phototransduction_Homo sapiens_hsa047440.52123502
103NOD-like receptor signaling pathway_Homo sapiens_hsa046210.49852994
104Vitamin B6 metabolism_Homo sapiens_hsa007500.44318880
105Tuberculosis_Homo sapiens_hsa051520.44305094
106Lysine degradation_Homo sapiens_hsa003100.43821607
107Oxidative phosphorylation_Homo sapiens_hsa001900.42686620
108Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.42578135
109Epstein-Barr virus infection_Homo sapiens_hsa051690.40429987
110Prion diseases_Homo sapiens_hsa050200.39074182
111Toll-like receptor signaling pathway_Homo sapiens_hsa046200.38347897
112Salmonella infection_Homo sapiens_hsa051320.36325236
113Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.35762950
114Galactose metabolism_Homo sapiens_hsa000520.33581141
115Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.31547996
116Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.30770158
117Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.29925499
118Parkinsons disease_Homo sapiens_hsa050120.25970601
119Arachidonic acid metabolism_Homo sapiens_hsa005900.25161930
120Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.23864929
121Glycerophospholipid metabolism_Homo sapiens_hsa005640.21649241
122Alzheimers disease_Homo sapiens_hsa050100.12675269
123Ribosome_Homo sapiens_hsa030100.12631208
124Mineral absorption_Homo sapiens_hsa049780.10144541
125Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.10023562
126Adipocytokine signaling pathway_Homo sapiens_hsa049200.06740285
127African trypanosomiasis_Homo sapiens_hsa051430.03792075
128RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.00631320
129Insulin resistance_Homo sapiens_hsa049310.00358642
130Regulation of autophagy_Homo sapiens_hsa04140-0.1073621
131Intestinal immune network for IgA production_Homo sapiens_hsa04672-0.1035377
132Systemic lupus erythematosus_Homo sapiens_hsa05322-0.0986412
133Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601-0.0911037
134Protein export_Homo sapiens_hsa03060-0.0763098
135Hepatitis C_Homo sapiens_hsa05160-0.0536294
136Pyrimidine metabolism_Homo sapiens_hsa00240-0.0498974
137Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604-0.0452356
138Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533-0.0380958
139Pertussis_Homo sapiens_hsa05133-0.0244606
140Fatty acid biosynthesis_Homo sapiens_hsa00061-0.0118590
141Huntingtons disease_Homo sapiens_hsa05016-0.0106183
142Ether lipid metabolism_Homo sapiens_hsa00565-0.0038578

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