ACSF3

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 acyl-CoA synthetase family of enzymes that activate fatty acids by catalyzing the formation of a thioester linkage between fatty acids and coenzyme A. The encoded protein is localized to mitochondria, has high specificity for malonate and methylmalonate and possesses malonyl-CoA synthetase activity. Mutations in this gene are a cause of combined malonic and methylmalonic aciduria. Alternatively spliced transcript variants have been observed for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1L-phenylalanine catabolic process (GO:0006559)6.50513920
2erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)6.50513920
3L-phenylalanine metabolic process (GO:0006558)6.39570590
4erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)6.39570590
5lysine catabolic process (GO:0006554)6.14466691
6lysine metabolic process (GO:0006553)6.14466691
7glyoxylate metabolic process (GO:0046487)5.74481990
8aromatic amino acid family catabolic process (GO:0009074)5.63781110
9cysteine metabolic process (GO:0006534)5.37337703
10triglyceride-rich lipoprotein particle remodeling (GO:0034370)5.26378279
11alpha-linolenic acid metabolic process (GO:0036109)5.24514655
12sulfur amino acid catabolic process (GO:0000098)5.17967924
13fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)5.09191297
14kynurenine metabolic process (GO:0070189)4.98732027
15amino-acid betaine metabolic process (GO:0006577)4.91867777
16tryptophan catabolic process (GO:0006569)4.90211881
17indole-containing compound catabolic process (GO:0042436)4.90211881
18indolalkylamine catabolic process (GO:0046218)4.90211881
19bile acid biosynthetic process (GO:0006699)4.84665327
20fatty acid beta-oxidation (GO:0006635)4.77879685
21positive regulation of gamma-delta T cell activation (GO:0046645)4.77850130
222-oxoglutarate metabolic process (GO:0006103)4.75525197
23serine family amino acid catabolic process (GO:0009071)4.72746381
24short-chain fatty acid metabolic process (GO:0046459)4.67858796
25urea metabolic process (GO:0019627)4.67425165
26urea cycle (GO:0000050)4.67425165
27tryptophan metabolic process (GO:0006568)4.67341579
28regulation of B cell receptor signaling pathway (GO:0050855)4.62497530
29aspartate family amino acid catabolic process (GO:0009068)4.59525282
30regulation of triglyceride catabolic process (GO:0010896)4.58066313
31valine metabolic process (GO:0006573)4.52968771
32cellular ketone body metabolic process (GO:0046950)4.49866182
33fatty acid oxidation (GO:0019395)4.46809114
34acetyl-CoA metabolic process (GO:0006084)4.46470673
35fatty acid catabolic process (GO:0009062)4.37205465
36lipid oxidation (GO:0034440)4.37169495
37alpha-amino acid catabolic process (GO:1901606)4.35386782
38homocysteine metabolic process (GO:0050667)4.35178821
39nitrogen cycle metabolic process (GO:0071941)4.33004097
40ethanol oxidation (GO:0006069)4.27221754
41high-density lipoprotein particle remodeling (GO:0034375)4.25952455
42regulation of gamma-delta T cell differentiation (GO:0045586)4.25534530
43carnitine metabolic process (GO:0009437)4.23431362
44monocarboxylic acid catabolic process (GO:0072329)4.19886748
45tricarboxylic acid metabolic process (GO:0072350)4.18741094
46aromatic amino acid family metabolic process (GO:0009072)4.16786202
47cellular amino acid catabolic process (GO:0009063)4.16282123
48positive regulation of fatty acid beta-oxidation (GO:0032000)4.09810582
49bile acid metabolic process (GO:0008206)4.05754086
50cellular modified amino acid catabolic process (GO:0042219)4.03238511
51negative regulation of fibrinolysis (GO:0051918)4.01615926
52regulation of gamma-delta T cell activation (GO:0046643)4.00581022
53serine family amino acid metabolic process (GO:0009069)4.00519764
54branched-chain amino acid catabolic process (GO:0009083)3.99974282
55biotin metabolic process (GO:0006768)3.98018484
56tyrosine metabolic process (GO:0006570)3.97115776
57* organic acid catabolic process (GO:0016054)3.96722636
58* carboxylic acid catabolic process (GO:0046395)3.96722636
59triglyceride homeostasis (GO:0070328)3.95700814
60acylglycerol homeostasis (GO:0055090)3.95700814
61glutamate metabolic process (GO:0006536)3.94096905
62branched-chain amino acid metabolic process (GO:0009081)3.93729854
63B cell receptor signaling pathway (GO:0050853)3.92742992
64glycine metabolic process (GO:0006544)3.91411711
65NADH metabolic process (GO:0006734)3.90566586
66ketone body metabolic process (GO:1902224)3.88931176
67coenzyme catabolic process (GO:0009109)3.88699840
68dicarboxylic acid biosynthetic process (GO:0043650)3.88228116
69regulation of cholesterol homeostasis (GO:2000188)3.87613786
70complement activation, alternative pathway (GO:0006957)3.87046860
71drug transmembrane transport (GO:0006855)3.86146527
72peptidyl-glutamic acid carboxylation (GO:0017187)3.86043278
73protein carboxylation (GO:0018214)3.86043278
74tricarboxylic acid cycle (GO:0006099)3.84241468
75oxaloacetate metabolic process (GO:0006107)3.83392018
76fatty acid transmembrane transport (GO:1902001)3.80992788
77positive thymic T cell selection (GO:0045059)3.78610467
78reverse cholesterol transport (GO:0043691)3.76828544
79drug catabolic process (GO:0042737)3.76107844
80positive regulation of granulocyte differentiation (GO:0030854)3.75003358
81regulation of protein activation cascade (GO:2000257)3.74977620
82positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.74723809
83negative regulation of sterol transport (GO:0032372)3.71798464
84negative regulation of cholesterol transport (GO:0032375)3.71798464
85serine family amino acid biosynthetic process (GO:0009070)3.71286238
86regulation of cholesterol esterification (GO:0010872)3.70280302
87positive regulation of lipid catabolic process (GO:0050996)3.69278041
88positive regulation of fatty acid oxidation (GO:0046321)3.67665109
89regulation of fatty acid beta-oxidation (GO:0031998)3.66124679
90regulation of fibrinolysis (GO:0051917)3.64756060
91carnitine shuttle (GO:0006853)3.64633181
92plasma lipoprotein particle remodeling (GO:0034369)3.63733053
93protein-lipid complex remodeling (GO:0034368)3.63733053
94macromolecular complex remodeling (GO:0034367)3.63733053
95cellular response to exogenous dsRNA (GO:0071360)3.63406276
96plasma lipoprotein particle clearance (GO:0034381)3.62810895
97negative thymic T cell selection (GO:0045060)3.59570410
98positive regulation of triglyceride metabolic process (GO:0090208)3.57243828
99negative T cell selection (GO:0043383)3.54619307
100urate metabolic process (GO:0046415)3.54569811
101regulation of complement activation (GO:0030449)3.50795172
102regulation of sequestering of triglyceride (GO:0010889)3.50593911
103positive T cell selection (GO:0043368)3.50022662
104succinate metabolic process (GO:0006105)3.49027482
105phospholipid efflux (GO:0033700)3.48587439
106regulation of fatty acid oxidation (GO:0046320)3.48044057
107indolalkylamine metabolic process (GO:0006586)3.47963134
108benzene-containing compound metabolic process (GO:0042537)3.47891193
109phospholipid homeostasis (GO:0055091)3.38463209
110flavonoid metabolic process (GO:0009812)3.37581175
111positive regulation of type I interferon-mediated signaling pathway (GO:0060340)3.36258370
112aldehyde catabolic process (GO:0046185)3.35095714
113purinergic nucleotide receptor signaling pathway (GO:0035590)3.34240378
114Peyers patch development (GO:0048541)3.33537609
115mucosal-associated lymphoid tissue development (GO:0048537)3.33537609
116amino-acid betaine transport (GO:0015838)3.32840904
117positive regulation of B cell differentiation (GO:0045579)3.29310054
118antigen processing and presentation of endogenous antigen (GO:0019883)3.25003890
119cellular response to ATP (GO:0071318)3.23173315
120T cell selection (GO:0045058)3.15595182
121positive regulation of defense response to virus by host (GO:0002230)3.11846843
122thymic T cell selection (GO:0045061)3.10622891
123NAD biosynthetic process (GO:0009435)3.07823279
124antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.05087834
125antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.01087550
126regulation of B cell differentiation (GO:0045577)3.00946632
127positive regulation of CREB transcription factor activity (GO:0032793)2.97647512
128regulation of granulocyte differentiation (GO:0030852)2.94058757
129regulation of antigen processing and presentation of peptide antigen (GO:0002583)2.93004074
130negative regulation of calcium ion transport into cytosol (GO:0010523)2.92698955
131mature B cell differentiation (GO:0002335)2.91080025
132immunoglobulin mediated immune response (GO:0016064)2.90915312
133protein K48-linked deubiquitination (GO:0071108)2.90632996
134histone H3-K4 trimethylation (GO:0080182)2.90105036
135DNA deamination (GO:0045006)2.89408295
136mannose metabolic process (GO:0006013)2.88856352
137regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)2.85805419
138negative regulation of cAMP-mediated signaling (GO:0043951)2.84705021
139antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)2.81434139
140histone H3-K9 modification (GO:0061647)2.80431656
141mature B cell differentiation involved in immune response (GO:0002313)2.76625637
142histone H3-K9 methylation (GO:0051567)2.75949734
143monoubiquitinated protein deubiquitination (GO:0035520)2.74090241
144snRNA transcription (GO:0009301)2.72725213
145positive regulation of developmental pigmentation (GO:0048087)2.70696614
146positive regulation of antigen processing and presentation (GO:0002579)2.66367031
147fucose catabolic process (GO:0019317)2.64744052
148L-fucose metabolic process (GO:0042354)2.64744052
149L-fucose catabolic process (GO:0042355)2.64744052
150regulation of MHC class I biosynthetic process (GO:0045343)2.64557008
151regulation of interleukin-12 biosynthetic process (GO:0045075)2.63404581
152phosphatidylglycerol biosynthetic process (GO:0006655)2.62336500
153regulation of antigen receptor-mediated signaling pathway (GO:0050854)2.61747825
154regulation of germinal center formation (GO:0002634)2.58209343
155interkinetic nuclear migration (GO:0022027)2.56413106
156cilium or flagellum-dependent cell motility (GO:0001539)2.55303140
157positive regulation of protein deacetylation (GO:0090312)2.53887007
158tolerance induction (GO:0002507)2.52782842
159behavioral response to nicotine (GO:0035095)2.51658105
160antigen receptor-mediated signaling pathway (GO:0050851)2.50688835
161negative regulation of leukocyte mediated cytotoxicity (GO:0001911)2.49816923
162negative regulation of cell killing (GO:0031342)2.49816923
163positive regulation of fatty acid transport (GO:2000193)2.48379408
164regulation of antigen processing and presentation (GO:0002577)2.47396567
165regulation of defense response to virus by host (GO:0050691)2.47134558
166sulfation (GO:0051923)2.46865089
167positive regulation of histone deacetylation (GO:0031065)2.44752743
168response to protozoan (GO:0001562)2.43371584
169cytokine biosynthetic process (GO:0042089)2.43340725
170hepatocyte apoptotic process (GO:0097284)2.43013225
171cellular biogenic amine catabolic process (GO:0042402)2.42977586
172amine catabolic process (GO:0009310)2.42977586
173positive regulation of icosanoid secretion (GO:0032305)2.42349408
174regulation of alpha-beta T cell proliferation (GO:0046640)2.42015484
175germinal center formation (GO:0002467)2.41661157
176cardiolipin metabolic process (GO:0032048)2.41031491
177detection of light stimulus involved in sensory perception (GO:0050962)2.40968498
178detection of light stimulus involved in visual perception (GO:0050908)2.40968498
179interferon-gamma production (GO:0032609)2.40948791
180defense response to protozoan (GO:0042832)2.40850950
181regulation of hippo signaling (GO:0035330)2.38229092
182mast cell activation (GO:0045576)2.37976133
183nicotinamide nucleotide biosynthetic process (GO:0019359)2.37870194
184pyridine nucleotide biosynthetic process (GO:0019363)2.37870194
185cellular response to ethanol (GO:0071361)2.37116221
186DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 cla2.32402808
187response to type I interferon (GO:0034340)2.30467905
188cellular response to interleukin-15 (GO:0071350)2.28846925
189positive regulation of T cell mediated cytotoxicity (GO:0001916)2.28098279
190response to interleukin-15 (GO:0070672)2.27049540
191B cell homeostasis (GO:0001782)2.25742500
192negative regulation of granulocyte differentiation (GO:0030853)2.25653318
193peptidyl-lysine methylation (GO:0018022)2.22842292
194indole-containing compound metabolic process (GO:0042430)2.22816369

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1PPARG_19300518_ChIP-PET_3T3-L1_Mouse7.31070173
2RXR_22158963_ChIP-Seq_LIVER_Mouse7.20852765
3PPARA_22158963_ChIP-Seq_LIVER_Mouse6.40168792
4LXR_22158963_ChIP-Seq_LIVER_Mouse5.37724414
5EGR1_23403033_ChIP-Seq_LIVER_Mouse4.69940424
6FOXO1_23066095_ChIP-Seq_LIVER_Mouse4.47484762
7CEBPA_23403033_ChIP-Seq_LIVER_Mouse4.02046829
8STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.59869093
9TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse3.56136978
10NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.27957908
11CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.16465151
12* SCL_19346495_ChIP-Seq_HPC-7_Human3.12799823
13VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human2.41658180
14IRF8_21731497_ChIP-ChIP_J774_Mouse2.32558403
15* RUNX_20019798_ChIP-Seq_JUKART_Human2.25484320
16HNF4A_19761587_ChIP-ChIP_CACO-2_Human2.21892162
17CLOCK_20551151_ChIP-Seq_293T_Human2.21712404
18ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.17599474
19MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.10000346
20* MYB_26560356_Chip-Seq_TH2_Human2.02960049
21STAT6_21828071_ChIP-Seq_BEAS2B_Human2.02161476
22TCF7L2_21901280_ChIP-Seq_H4IIE_Rat2.01006253
23VDR_24763502_ChIP-Seq_THP-1_Human2.00305011
24ESR1_17901129_ChIP-ChIP_LIVER_Mouse10.1728654
25BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.93166752
26DROSHA_22980978_ChIP-Seq_HELA_Human1.92287772
27ZNF274_21170338_ChIP-Seq_K562_Hela1.91236435
28IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.89944616
29NOTCH1_21737748_ChIP-Seq_TLL_Human1.89415391
30LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.86026629
31MYB_26560356_Chip-Seq_TH1_Human1.79617815
32MAF_26560356_Chip-Seq_TH1_Human1.79067755
33MAF_26560356_Chip-Seq_TH2_Human1.75576688
34SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.75070219
35* UTX_26944678_Chip-Seq_JUKART_Human1.73859110
36VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.73785832
37GATA3_27048872_Chip-Seq_THYMUS_Human1.72581981
38CIITA_25753668_ChIP-Seq_RAJI_Human1.70096229
39ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.65956300
40SPI1_23127762_ChIP-Seq_K562_Human1.65344084
41THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.63649465
42ZNF263_19887448_ChIP-Seq_K562_Human1.58313568
43RARG_19884340_ChIP-ChIP_MEFs_Mouse1.54445732
44GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.51416899
45GATA3_26560356_Chip-Seq_TH2_Human1.51070999
46GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.47446243
47GATA1_22025678_ChIP-Seq_K562_Human1.44630803
48EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.42265546
49* GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.41996410
50IRF8_27001747_Chip-Seq_BMDM_Mouse1.41527323
51MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.41386106
52EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.40863254
53* LXR_22292898_ChIP-Seq_THP-1_Human1.37022722
54FOXA2_19822575_ChIP-Seq_HepG2_Human1.34696449
55SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.33509885
56ERA_21632823_ChIP-Seq_H3396_Human1.32854365
57FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.32746767
58TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.32530997
59NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.30740002
60SPI1_23547873_ChIP-Seq_NB4_Human1.29256422
61HNF4A_19822575_ChIP-Seq_HepG2_Human1.26281557
62* KDM2B_26808549_Chip-Seq_SUP-B15_Human1.25615628
63* KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.22347890
64SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.21607746
65BP1_19119308_ChIP-ChIP_Hs578T_Human1.21143567
66RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.20924296
67STAT3_1855785_ChIP-Seq_MESCs_Mouse1.18809057
68LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.18461827
69STAT1_20625510_ChIP-Seq_HELA_Human1.18383124
70RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.17886402
71* KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.17371293
72RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human1.16147025
73VDR_24787735_ChIP-Seq_THP-1_Human1.14764319
74KDM2B_26808549_Chip-Seq_DND41_Human1.14730512
75FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.14472179
76OCT4_20526341_ChIP-Seq_ESCs_Human1.13457523
77SMRT_27268052_Chip-Seq_Bcells_Human1.10587454
78STAT4_19710469_ChIP-ChIP_TH1__Mouse1.10299318
79SOX2_27498859_Chip-Seq_STOMACH_Mouse1.08148569
80ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.08060403
81NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.07086010
82EZH2_22144423_ChIP-Seq_EOC_Human1.06928340
83PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.05940431
84* TCF7_22412390_ChIP-Seq_EML_Mouse1.05743716
85VDR_22108803_ChIP-Seq_LS180_Human1.03899148
86STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.02926108
87SMC4_20622854_ChIP-Seq_HELA_Human1.02604574
88RUNX1_22412390_ChIP-Seq_EML_Mouse1.02278605
89* FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.01972084
90SREBP1_19666523_ChIP-Seq_LIVER_Mouse1.01963267
91SREBP2_21459322_ChIP-Seq_LIVER_Mouse1.01789934
92GATA3_21878914_ChIP-Seq_MCF-7_Human1.01740343
93RXRA_24833708_ChIP-Seq_LIVER_Mouse1.01126717
94YY1_22570637_ChIP-Seq_MALME-3M_Human0.97869045
95TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.97712668
96OCT4_19829295_ChIP-Seq_ESCs_Human0.96862360
97EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.95980178
98GATA2_21666600_ChIP-Seq_HMVEC_Human0.95067405
99BCL6_25482012_ChIP-Seq_CML-JURL-MK1_Human0.94274938
100PKCTHETA_26484144_Chip-Seq_BREAST_Human0.93676953
101EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.93552945
102TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human0.93448604
103FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.92919968
104FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.92874262
105CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.92870923
106GATA2_22383799_ChIP-Seq_G1ME_Mouse0.92443374
107WDR5_24793694_ChIP-Seq_LNCAP_Human0.91897409
108NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.91075550
109PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.90970815
110SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.89902266
111RACK7_27058665_Chip-Seq_MCF-7_Human0.87656649
112PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.87349964
113SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.85086886
114BCOR_27268052_Chip-Seq_Bcells_Human0.84768432
115P68_20966046_ChIP-Seq_HELA_Human0.83515617
116* TET1_21451524_ChIP-Seq_MESCs_Mouse0.83301951
117RARA_24833708_ChIP-Seq_LIVER_Mouse0.82216326
118BCL6_27268052_Chip-Seq_Bcells_Human0.81477167
119ESR2_21235772_ChIP-Seq_MCF-7_Human0.80560581
120MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.80229914
121STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.78775075
122GATA4_25053715_ChIP-Seq_YYC3_Human0.78771202
123ESR1_15608294_ChIP-ChIP_MCF-7_Human0.77773744
124* GATA1_19941827_ChIP-Seq_MEL_Mouse0.77592818
125* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.76263098
126IRF8_22096565_ChIP-ChIP_GC-B_Human0.76135408
127HTT_18923047_ChIP-ChIP_STHdh_Human0.75726497
128* TBX20_22328084_ChIP-Seq_HEART_Mouse0.75317342
129* TBX20_22080862_ChIP-Seq_HEART_Mouse0.75317342
130ELF1_20517297_ChIP-Seq_JURKAT_Human0.73640429
131RARB_24833708_ChIP-Seq_LIVER_Mouse0.73144057
132* MYC_22102868_ChIP-Seq_BL_Human0.72005142
133GATA1_19941826_ChIP-Seq_K562_Human0.69524353
134RUNX1_20887958_ChIP-Seq_HPC-7_Mouse0.66814797
135GATA1_22383799_ChIP-Seq_G1ME_Mouse0.66162713
136CREB1_26743006_Chip-Seq_LNCaP_Human0.66059770
137ATF3_27146783_Chip-Seq_COLON_Human0.65886457
138* E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human0.65845869
139RAD21_21589869_ChIP-Seq_MESCs_Mouse0.65391300
140BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.64627889
141SRY_22984422_ChIP-ChIP_TESTIS_Rat0.64287278
142FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.64283273
143PHF8_20622854_ChIP-Seq_HELA_Human0.64090079
144CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.62885127
145TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse0.62719741
146TAF2_19829295_ChIP-Seq_ESCs_Human0.62129518
147P300_27268052_Chip-Seq_Bcells_Human0.61873000
148* CTCF_21964334_ChIP-Seq_BJAB-B_Human0.61388549
149GATA6_25053715_ChIP-Seq_YYC3_Human0.60509941
150AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.60458562
151SA1_27219007_Chip-Seq_Bcells_Human0.60152454
152RAC3_21632823_ChIP-Seq_H3396_Human0.60078682
153E2F1_20622854_ChIP-Seq_HELA_Human0.59981315
154* GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.59960732
155CEBPB_22108803_ChIP-Seq_LS180_Human0.59297299
156ERG_20517297_ChIP-Seq_VCAP_Human0.58840733
157GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.58498355
158CTCF_27219007_Chip-Seq_Bcells_Human0.56699801
159CTCF_21964334_Chip-Seq_Bcells_Human0.55995276
160ELK3_25401928_ChIP-Seq_HUVEC_Human0.55542067
161BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.55178907
162CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.54907880
163SA1_27219007_Chip-Seq_ERYTHROID_Human0.54803938
164TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.54505623
165CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.54224192
166KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.53684126
167VDR_21846776_ChIP-Seq_THP-1_Human0.53427169
168SOX2_21211035_ChIP-Seq_LN229_Human0.52968509
169ZFX_18555785_ChIP-Seq_MESCs_Mouse0.52966504
170SRF_21415370_ChIP-Seq_HL-1_Mouse0.52849719
171IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.52624626
172CTCF_26484167_Chip-Seq_Bcells_Mouse0.52624349

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system7.44624850
2MP0005360_urolithiasis6.99729233
3MP0005365_abnormal_bile_salt5.62518478
4MP0005085_abnormal_gallbladder_physiolo5.30765975
5MP0008875_abnormal_xenobiotic_pharmacok4.28903125
6MP0003806_abnormal_nucleotide_metabolis4.00140633
7MP0010329_abnormal_lipoprotein_level3.40056072
8MP0003252_abnormal_bile_duct3.29087442
9MP0009840_abnormal_foam_cell3.16233253
10MP0005332_abnormal_amino_acid3.11536757
11MP0003763_abnormal_thymus_physiology2.81268436
12MP0001800_abnormal_humoral_immune2.76599834
13MP0005083_abnormal_biliary_tract2.75266173
14MP0000685_abnormal_immune_system2.69157565
15MP0005671_abnormal_response_to2.67876509
16MP0003195_calcinosis2.65920989
17MP0001835_abnormal_antigen_presentation2.62853433
18MP0001666_abnormal_nutrient_absorption2.59814937
19MP0005670_abnormal_white_adipose2.41363181
20MP0003436_decreased_susceptibility_to2.28768191
21MP0005387_immune_system_phenotype2.26965347
22MP0001790_abnormal_immune_system2.26965347
23MP0002118_abnormal_lipid_homeostasis2.23172540
24MP0003191_abnormal_cellular_cholesterol2.22612123
25MP0002837_dystrophic_cardiac_calcinosis2.19383806
26MP0001986_abnormal_taste_sensitivity2.19319102
27MP0008057_abnormal_DNA_replication2.18423694
28MP0004019_abnormal_vitamin_homeostasis2.11994161
29MP0009278_abnormal_bone_marrow2.11632080
30MP0000609_abnormal_liver_physiology2.10284640
31MP0005174_abnormal_tail_pigmentation2.09576567
32MP0002723_abnormal_immune_serum2.09446820
33MP0002452_abnormal_antigen_presenting2.05961402
34MP0002420_abnormal_adaptive_immunity1.99975511
35MP0005000_abnormal_immune_tolerance1.97789215
36MP0001819_abnormal_immune_cell1.97180438
37MP0003724_increased_susceptibility_to1.96238918
38MP0005319_abnormal_enzyme/_coenzyme1.94944884
39MP0005310_abnormal_salivary_gland1.94055289
40MP0006036_abnormal_mitochondrial_physio1.91959727
41MP0001873_stomach_inflammation1.88254120
42MP0009643_abnormal_urine_homeostasis1.87087128
43MP0005584_abnormal_enzyme/coenzyme_acti1.87080050
44MP0005025_abnormal_response_to1.87009788
45MP0002398_abnormal_bone_marrow1.81847456
46MP0004130_abnormal_muscle_cell1.80602939
47MP0002138_abnormal_hepatobiliary_system1.79598403
48MP0004381_abnormal_hair_follicle1.77892427
49MP0000569_abnormal_digit_pigmentation1.76335406
50MP0003866_abnormal_defecation1.76031681
51MP0002396_abnormal_hematopoietic_system1.75223580
52MP0000716_abnormal_immune_system1.71223986
53MP0002148_abnormal_hypersensitivity_rea1.67243838
54MP0000689_abnormal_spleen_morphology1.65820021
55MP0003172_abnormal_lysosome_physiology1.64911221
56MP0002419_abnormal_innate_immunity1.60580676
57MP0000015_abnormal_ear_pigmentation1.59396580
58MP0001501_abnormal_sleep_pattern1.58534014
59MP0003868_abnormal_feces_composition1.57925409
60MP0005666_abnormal_adipose_tissue1.57326777
61MP0001764_abnormal_homeostasis1.57263198
62MP0005645_abnormal_hypothalamus_physiol1.56805905
63MP0003045_fibrosis1.54370281
64MP0009333_abnormal_splenocyte_physiolog1.54076612
65MP0005075_abnormal_melanosome_morpholog1.48173086
66MP0002405_respiratory_system_inflammati1.47848376
67MP0001545_abnormal_hematopoietic_system1.47148045
68MP0005397_hematopoietic_system_phenotyp1.47148045
69MP0003303_peritoneal_inflammation1.45861864
70MP0000703_abnormal_thymus_morphology1.44747127
71MP0002722_abnormal_immune_system1.42010810
72MP0010155_abnormal_intestine_physiology1.41554239
73MP0002429_abnormal_blood_cell1.39234043
74MP0003656_abnormal_erythrocyte_physiolo1.36603769
75MP0001968_abnormal_touch/_nociception1.32279713
76MP0002078_abnormal_glucose_homeostasis1.31979142
77MP0004043_abnormal_pH_regulation1.31059659
78MP0003186_abnormal_redox_activity1.30849871
79MP0009785_altered_susceptibility_to1.30832174
80MP0005636_abnormal_mineral_homeostasis1.29905200
81MP0002971_abnormal_brown_adipose1.27979301
82MP0005535_abnormal_body_temperature1.27468734
83MP0001845_abnormal_inflammatory_respons1.17235814
84MP0001756_abnormal_urination1.16865948
85MP0003705_abnormal_hypodermis_morpholog1.12936331
86MP0000598_abnormal_liver_morphology1.12630306
87MP0006035_abnormal_mitochondrial_morpho1.12293708
88MP0005464_abnormal_platelet_physiology1.08676439
89MP0005220_abnormal_exocrine_pancreas1.06484578
90MP0005551_abnormal_eye_electrophysiolog1.06029158
91MP0003646_muscle_fatigue1.04719093
92MP0004808_abnormal_hematopoietic_stem1.02327892
93MP0000465_gastrointestinal_hemorrhage1.00272855
94MP0005334_abnormal_fat_pad1.00220991
95MP0003787_abnormal_imprinting0.97867586
96MP0002653_abnormal_ependyma_morphology0.97613209
97MP0000371_diluted_coat_color0.97590382
98MP0008961_abnormal_basal_metabolism0.97254387
99MP0005375_adipose_tissue_phenotype0.97179831
100MP0009697_abnormal_copulation0.96718943
101MP0002933_joint_inflammation0.96456959
102MP0005266_abnormal_metabolism0.95989561
103MP0009642_abnormal_blood_homeostasis0.94684061
104MP0005451_abnormal_body_composition0.94259667
105MP0000604_amyloidosis0.91294539
106MP0001664_abnormal_digestion0.90966528
107MP0003329_amyloid_beta_deposits0.90230275
108MP0008877_abnormal_DNA_methylation0.89345043
109MP0005448_abnormal_energy_balance0.87220376
110MP0001533_abnormal_skeleton_physiology0.85996741
111MP0006082_CNS_inflammation0.85719261
112MP0005330_cardiomyopathy0.85181041
113MP0005084_abnormal_gallbladder_morpholo0.84340783
114MP0002970_abnormal_white_adipose0.82184312
115MP0010368_abnormal_lymphatic_system0.81333406
116MP0001765_abnormal_ion_homeostasis0.81187459
117MP0002019_abnormal_tumor_incidence0.80507757
118MP0000538_abnormal_urinary_bladder0.76895103
119MP0002136_abnormal_kidney_physiology0.76328606
120MP0005646_abnormal_pituitary_gland0.76256478
121MP0005376_homeostasis/metabolism_phenot0.76186379
122MP0005377_hearing/vestibular/ear_phenot0.75859832
123MP0003878_abnormal_ear_physiology0.75859832
124MP0001663_abnormal_digestive_system0.75629269
125MP0008469_abnormal_protein_level0.75369611
126MP0004947_skin_inflammation0.74890891
127MP0009763_increased_sensitivity_to0.74872619
128MP0004185_abnormal_adipocyte_glucose0.74738686
129MP0003953_abnormal_hormone_level0.73043411
130MP0000470_abnormal_stomach_morphology0.72114412
131MP0002909_abnormal_adrenal_gland0.72050345
132MP0002876_abnormal_thyroid_physiology0.71793940
133MP0002269_muscular_atrophy0.71088895
134MP0001944_abnormal_pancreas_morphology0.70947078
135MP0005167_abnormal_blood-brain_barrier0.69866360
136MP0003011_delayed_dark_adaptation0.69693236
137MP0010094_abnormal_chromosome_stability0.66965022
138MP0009115_abnormal_fat_cell0.65547189
139MP0005647_abnormal_sex_gland0.65090110
140MP0000230_abnormal_systemic_arterial0.62836787
141MP0002254_reproductive_system_inflammat0.62373976
142MP0003959_abnormal_lean_body0.62352488
143MP0009764_decreased_sensitivity_to0.61598406
144MP0005058_abnormal_lysosome_morphology0.61542612
145MP0000013_abnormal_adipose_tissue0.56976197
146MP0001661_extended_life_span0.56437242
147MP0000003_abnormal_adipose_tissue0.54578827
148MP0002928_abnormal_bile_duct0.49745688
149MP0004215_abnormal_myocardial_fiber0.49717146
150MP0009672_abnormal_birth_weight0.49049175
151MP0004036_abnormal_muscle_relaxation0.48927405
152MP0009765_abnormal_xenobiotic_induced0.48033109
153MP0005452_abnormal_adipose_tissue0.47781958
154MP0003300_gastrointestinal_ulcer0.46829062
155MP0005408_hypopigmentation0.46605764
156MP0000747_muscle_weakness0.46343755
157MP0003183_abnormal_peptide_metabolism0.46177948
158MP0000639_abnormal_adrenal_gland0.45526980
159MP0003221_abnormal_cardiomyocyte_apopto0.44364661
160MP0002822_catalepsy0.43955153
161MP0004147_increased_porphyrin_level0.43856156
162MP0008872_abnormal_physiological_respon0.41924993
163MP0004084_abnormal_cardiac_muscle0.41893381
164MP0004087_abnormal_muscle_fiber0.41348507
165MP0005385_cardiovascular_system_phenoty0.40680502
166MP0001544_abnormal_cardiovascular_syste0.40680502
167MP0002693_abnormal_pancreas_physiology0.39365952
168MP0003638_abnormal_response/metabolism_0.38583815
169MP0008874_decreased_physiological_sensi0.38377296
170MP0000751_myopathy0.38011844

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of aromatic amino acid family metabolism (HP:0004338)5.82763519
2Hyperglycinuria (HP:0003108)5.30895045
3* Ketosis (HP:0001946)5.05409819
4Hypoglycemic coma (HP:0001325)5.01318716
5Intrahepatic cholestasis (HP:0001406)4.99522831
6Xanthomatosis (HP:0000991)4.97189289
7Hyperammonemia (HP:0001987)4.88632626
8Deep venous thrombosis (HP:0002625)4.81608334
9Abnormality of serine family amino acid metabolism (HP:0010894)4.73843421
10Abnormality of glycine metabolism (HP:0010895)4.73843421
11Abnormality of monocarboxylic acid metabolism (HP:0010996)4.71142576
12Hyperglycinemia (HP:0002154)4.62869250
13Abnormality of fatty-acid metabolism (HP:0004359)4.51456870
14* Ketoacidosis (HP:0001993)4.49926958
15Hypobetalipoproteinemia (HP:0003563)4.45755549
16Genetic anticipation (HP:0003743)4.20711703
17Hyperlipoproteinemia (HP:0010980)4.20141001
18Abnormality of glutamine family amino acid metabolism (HP:0010902)4.07711907
19Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.93093990
20* Dicarboxylic aciduria (HP:0003215)3.92437396
21* Abnormality of dicarboxylic acid metabolism (HP:0010995)3.92437396
22Abnormal delayed hypersensitivity skin test (HP:0002963)3.89738851
23Panhypogammaglobulinemia (HP:0003139)3.87958653
24Increased neuronal autofluorescent lipopigment (HP:0002074)3.87591943
25Prolonged partial thromboplastin time (HP:0003645)3.78683199
26Congenital stationary night blindness (HP:0007642)3.78546537
27Gout (HP:0001997)3.63431878
28Hypolipoproteinemia (HP:0010981)3.63348791
29Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)3.60273136
30Generalized aminoaciduria (HP:0002909)3.51894917
31Abnormality of sulfur amino acid metabolism (HP:0004339)3.50931001
32Abnormality of aspartate family amino acid metabolism (HP:0010899)3.50501407
33Attenuation of retinal blood vessels (HP:0007843)3.42984612
34Hypoalphalipoproteinemia (HP:0003233)3.40282841
35Complement deficiency (HP:0004431)3.39493471
36Abnormality of B cell number (HP:0010975)3.36972721
37Abnormality of the level of lipoprotein cholesterol (HP:0010979)3.26859504
38Metabolic acidosis (HP:0001942)3.26437381
39Increased cerebral lipofuscin (HP:0011813)3.25442605
40Autoimmune thrombocytopenia (HP:0001973)3.20720527
41Delayed CNS myelination (HP:0002188)3.20258878
42Recurrent fungal infections (HP:0002841)3.19832693
43Epidermoid cyst (HP:0200040)3.17071348
44Lethargy (HP:0001254)3.14878258
45Abnormality of purine metabolism (HP:0004352)3.13350342
46Clumsiness (HP:0002312)3.10164791
47Myoglobinuria (HP:0002913)3.08029156
48Abnormality of serum amino acid levels (HP:0003112)3.05847397
49Hypoglycemic seizures (HP:0002173)3.03353299
50Gaze-evoked nystagmus (HP:0000640)3.00609050
51Cerebral edema (HP:0002181)3.00587399
52Agammaglobulinemia (HP:0004432)3.00110148
53Recurrent cutaneous fungal infections (HP:0011370)2.97764122
54Chronic mucocutaneous candidiasis (HP:0002728)2.97764122
55Abnormality of nucleobase metabolism (HP:0010932)2.95080948
56Abnormality of the common coagulation pathway (HP:0010990)2.94810078
57Abnormality of methionine metabolism (HP:0010901)2.90789808
58Late onset (HP:0003584)2.89970316
59Progressive cerebellar ataxia (HP:0002073)2.87895167
60Elevated erythrocyte sedimentation rate (HP:0003565)2.84656117
61Proximal tubulopathy (HP:0000114)2.83207868
62Colitis (HP:0002583)2.82312406
63Hyperventilation (HP:0002883)2.81507688
64Hyperbilirubinemia (HP:0002904)2.81256285
65Fat malabsorption (HP:0002630)2.79916980
66Pustule (HP:0200039)2.78137815
67Joint hemorrhage (HP:0005261)2.74520560
68Abnormality of the intrinsic pathway (HP:0010989)2.74496116
69Severe visual impairment (HP:0001141)2.67718614
70Stomach cancer (HP:0012126)2.65576146
71Hyperinsulinemic hypoglycemia (HP:0000825)2.63959536
72* Vomiting (HP:0002013)2.63698764
73Hypercholesterolemia (HP:0003124)2.58754698
74Abnormality of pyrimidine metabolism (HP:0004353)2.58542161
75Abnormality of T cell physiology (HP:0011840)2.58420544
76Hepatic necrosis (HP:0002605)2.57930563
77Increased purine levels (HP:0004368)2.54641158
78Hyperuricemia (HP:0002149)2.54641158
79Recurrent viral infections (HP:0004429)2.52978087
80IgG deficiency (HP:0004315)2.49919959
81Inflammation of the large intestine (HP:0002037)2.47914089
82Abnormality of T cells (HP:0002843)2.47526373
83Meningitis (HP:0001287)2.47448897
84Bony spicule pigmentary retinopathy (HP:0007737)2.47336382
85Skin nodule (HP:0200036)2.46676718
86Abnormality of complement system (HP:0005339)2.45460539
87Severe combined immunodeficiency (HP:0004430)2.45053707
88Recurrent bacterial skin infections (HP:0005406)2.44633697
89Absent rod-and cone-mediated responses on ERG (HP:0007688)2.44252906
90Decreased circulating renin level (HP:0003351)2.44036246
91Neonatal onset (HP:0003623)2.42069689
92Decreased central vision (HP:0007663)2.40689996
93Autoimmune hemolytic anemia (HP:0001890)2.39572456
94Mediastinal lymphadenopathy (HP:0100721)2.38919238
95Rhabdomyolysis (HP:0003201)2.38577669
96Acute encephalopathy (HP:0006846)2.37918486
97Hydroxyprolinuria (HP:0003080)2.37815630
98Abnormality of proline metabolism (HP:0010907)2.37815630
99Hepatocellular carcinoma (HP:0001402)2.36892723
100Abnormality of the fingertips (HP:0001211)2.36763710
101Pancreatic cysts (HP:0001737)2.36657184
102Stomatitis (HP:0010280)2.36349219
103Gastrointestinal inflammation (HP:0004386)2.36251111
104Thyroiditis (HP:0100646)2.33519937
105Hyperglycemia (HP:0003074)2.33034522
106Recurrent abscess formation (HP:0002722)2.32755858
107Symptomatic seizures (HP:0011145)2.32403428
108Conjugated hyperbilirubinemia (HP:0002908)2.31970395
109B lymphocytopenia (HP:0010976)2.29987057
110Abnormality of eosinophils (HP:0001879)2.28584146
111Irritability (HP:0000737)2.28459793
112Hypochromic anemia (HP:0001931)2.27924527
113Granulocytopenia (HP:0001913)2.27618994
114Abnormality of urine glucose concentration (HP:0011016)2.26826364
115Glycosuria (HP:0003076)2.26826364
116Eosinophilia (HP:0001880)2.25907035
117Brushfield spots (HP:0001088)2.24312465
118Pancreatitis (HP:0001733)2.24091343
119Abnormality of T cell number (HP:0011839)2.23937118
120Chronic diarrhea (HP:0002028)2.23846434
121Decreased electroretinogram (ERG) amplitude (HP:0000654)2.22486973
122Abnormality of DNA repair (HP:0003254)2.22397603
123Myositis (HP:0100614)2.22331196
124Acute lymphatic leukemia (HP:0006721)2.21938861
125Increased muscle lipid content (HP:0009058)2.20022929
126Abnormal rod and cone electroretinograms (HP:0008323)2.19742730
127Cholelithiasis (HP:0001081)2.17321846
128Ragged-red muscle fibers (HP:0003200)2.16801436
129Vasculitis (HP:0002633)2.16684026
130Abnormal gallbladder morphology (HP:0012437)2.14695179
131Polydipsia (HP:0001959)2.14343251
132Abnormal drinking behavior (HP:0030082)2.14343251
133Spastic diplegia (HP:0001264)2.13528813
134Encephalitis (HP:0002383)2.11179281
135Nausea (HP:0002018)2.11153506
136Sensorimotor neuropathy (HP:0007141)2.09973434
137Malnutrition (HP:0004395)2.07938865
138Hypoplasia of the thymus (HP:0000778)2.07550183
139Recurrent skin infections (HP:0001581)2.06378880
140Alkalosis (HP:0001948)2.02618277
141Protruding tongue (HP:0010808)2.01652776
142Recurrent bronchitis (HP:0002837)2.01284161
143Abnormality of the renal cortex (HP:0011035)2.01076181
144Limb hypertonia (HP:0002509)2.00972356
145* Methylmalonic aciduria (HP:0012120)2.00484424
146Abnormal cartilage morphology (HP:0002763)2.00298215
147Chronic obstructive pulmonary disease (HP:0006510)1.99757282
148Obstructive lung disease (HP:0006536)1.99757282
149Eczematoid dermatitis (HP:0000976)1.99531945
150Vascular calcification (HP:0004934)1.98267544
151Poikiloderma (HP:0001029)1.97989417
152Recurrent sinusitis (HP:0011108)1.97977344
153Leukocytosis (HP:0001974)1.97682900
154Abolished electroretinogram (ERG) (HP:0000550)1.97133236
155Lactic acidosis (HP:0003128)1.96610939
156Opisthotonus (HP:0002179)1.96427812
157Global brain atrophy (HP:0002283)1.96315590
158Chronic hepatic failure (HP:0100626)1.95793948
159Abnormal gallbladder physiology (HP:0012438)1.94514123
160Cholecystitis (HP:0001082)1.94514123
161T lymphocytopenia (HP:0005403)1.93758833
162Acute hepatic failure (HP:0006554)1.93346209
163Pendular nystagmus (HP:0012043)1.93282921
164IgA deficiency (HP:0002720)1.92919116
165Impaired smooth pursuit (HP:0007772)1.92873480
166Myocardial infarction (HP:0001658)1.91942121
167Death in childhood (HP:0003819)1.90707663
168Steatorrhea (HP:0002570)1.89291276
169Abnormality of binocular vision (HP:0011514)1.88560936
170Diplopia (HP:0000651)1.88560936
171Tachypnea (HP:0002789)1.88023190
172Pulmonary infiltrates (HP:0002113)1.87617738
173Hypertriglyceridemia (HP:0002155)1.86754603
174Insulin resistance (HP:0000855)1.86290398
175Prolonged bleeding time (HP:0003010)1.85852892
176Renal cortical cysts (HP:0000803)1.85508449
177Congenital sensorineural hearing impairment (HP:0008527)1.85308748
178Elevated hepatic transaminases (HP:0002910)1.82686031
179Abnormality of endocrine pancreas physiology (HP:0012093)1.82512026
180Abnormality of the pancreatic islet cells (HP:0006476)1.82512026
181Tented upper lip vermilion (HP:0010804)1.81468636
182Hypoplasia of the pons (HP:0012110)1.81456363
183Abnormality of the prostate (HP:0008775)1.81134319
184Lymphopenia (HP:0001888)1.80620622
185Prominent nose (HP:0000448)1.80592256
186Abnormality of the renal collecting system (HP:0004742)1.80228385
187Abnormality of the columella (HP:0009929)1.80090671
188Large for gestational age (HP:0001520)1.79118102
189Esophageal varix (HP:0002040)1.77158832
190IgM deficiency (HP:0002850)1.76904614
191Albinism (HP:0001022)1.75919912
192Gastrointestinal infarctions (HP:0005244)1.75849690
193Combined immunodeficiency (HP:0005387)1.74653424
194Visual hallucinations (HP:0002367)1.73876023
195Abnormality of cells of the lymphoid lineage (HP:0012140)1.73791302
196Cystic liver disease (HP:0006706)1.73320937
197Prostate neoplasm (HP:0100787)1.73242040
198Patellar aplasia (HP:0006443)1.72638699
199Duplicated collecting system (HP:0000081)1.70722730
200Abnormality of midbrain morphology (HP:0002418)1.67990251

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK7.04920436
2FRK5.74311286
3TRIB34.48369339
4ERN13.80169292
5SIK13.49788159
6FGFR43.18332326
7WNK33.13484254
8PDK32.90891358
9PDK42.90891358
10PKN22.72167995
11INSRR2.62412426
12TNK22.42104686
13FLT32.33289525
14ADRBK22.21343094
15NEK12.19989833
16TXK2.02216268
17BLK1.90088797
18TLK11.88666018
19MAP3K101.85280965
20RIPK41.78249308
21SIK21.75847136
22SYK1.68916999
23FES1.60566127
24IKBKB1.58667891
25WNK41.52676685
26TEC1.52603855
27BMPR1B1.52039889
28MAPK111.46189182
29MAPK151.41580780
30PTK61.38840826
31ZAK1.38014929
32ITK1.34350697
33IRAK41.30598892
34LMTK21.26588336
35EEF2K1.23776954
36PDK21.21268087
37PINK11.20913824
38IKBKE1.19400526
39CDK121.18599113
40GRK61.14107579
41MAP2K41.11405830
42MST1R1.11035352
43GRK11.09831738
44MAP3K71.08898441
45MARK31.05166516
46DAPK21.04271026
47MAP3K111.02458661
48MAP4K11.00124391
49LYN1.00101708
50PRKAA21.00069486
51HCK0.99692846
52CAMK1D0.98615673
53PRKD20.98346732
54LCK0.97315066
55RIPK10.93615526
56KDR0.93514768
57MAP3K140.93416308
58CAMKK20.91837909
59PRKAA10.91633849
60TTN0.91576766
61TYK20.90574547
62TIE10.90427229
63CAMKK10.85860324
64PRKCQ0.85133370
65NUAK10.83987821
66PTK2B0.83965864
67DYRK1B0.83207339
68MAP3K130.82602893
69JAK20.82118096
70PHKG20.79646678
71PHKG10.79646678
72MAPK130.79434731
73RPS6KA60.76735003
74CHUK0.74347650
75SGK30.73840473
76CDK40.73095563
77NLK0.73010671
78CDC42BPA0.72822042
79MAP2K30.72086362
80MYLK0.71705891
81TBK10.71674505
82SCYL20.70573005
83MARK20.69095571
84STK38L0.68971311
85MAPKAPK30.68754355
86LATS10.68746766
87TAOK30.68013821
88PIM10.67864430
89ADRBK10.67136225
90ICK0.65823710
91HIPK20.65750341
92MELK0.63687098
93ACVR1B0.63299003
94PIK3CG0.62670995
95PDPK10.61798661
96CCNB10.61739729
97MAP3K30.60713756
98MAP2K60.59641066
99TGFBR10.59409901
100PRKACG0.57183435
101TRPM70.56566174
102CAMK10.55098718
103PDGFRA0.54944302
104PRKCZ0.54277797
105CSK0.53823186
106PRKD30.53763035
107ERBB40.53750468
108RPS6KC10.53732823
109RPS6KL10.53732823
110JAK10.52916632
111MAP2K10.52827765
112PDK10.51748432
113MTOR0.51409740
114MAP4K20.51097136
115FGFR30.49371602
116PASK0.47928142
117MAP2K20.47170532
118KIT0.47026929
119LRRK20.46543373
120CSF1R0.45876586
121NEK20.45741029
122CAMK40.45622287
123MAPK40.45291794
124MAPK30.44800229
125AKT20.44772758
126RPS6KA50.44106259
127CAMK1G0.43679779
128ATR0.43100699
129PRKCH0.43069522
130MAPK70.42796571
131MAPK120.41973109
132SGK4940.41054812
133SGK2230.41054812
134OXSR10.40602435
135ERBB20.40562951
136RET0.40506882
137STK380.39424549
138ABL20.39004150
139GSK3A0.38363733
140ILK0.37761076
141MAP3K10.37674688
142EPHA30.36292918
143PTK20.36123911
144SGK20.35941090
145STK110.35875946
146MAP3K20.35764183
147MAPK80.32878726
148EPHB10.32591993
149PRKD10.30075396
150NEK90.29935934
151JAK30.28271602
152ZAP700.27987500
153IRAK10.27481656
154BTK0.27098120
155CDK60.27082945

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001203.48436498
2Primary immunodeficiency_Homo sapiens_hsa053403.34157763
3Intestinal immune network for IgA production_Homo sapiens_hsa046723.29765062
4Fatty acid degradation_Homo sapiens_hsa000713.18760500
5Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.15121419
6Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006303.04261330
7* Valine, leucine and isoleucine degradation_Homo sapiens_hsa002803.04167961
8Propanoate metabolism_Homo sapiens_hsa006402.99049249
9Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.91545921
102-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.79897679
11Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.74527461
12Nitrogen metabolism_Homo sapiens_hsa009102.71847469
13Graft-versus-host disease_Homo sapiens_hsa053322.59506141
14Allograft rejection_Homo sapiens_hsa053302.58076263
15Tryptophan metabolism_Homo sapiens_hsa003802.55167228
16Arginine biosynthesis_Homo sapiens_hsa002202.51645519
17Asthma_Homo sapiens_hsa053102.50109095
18Autoimmune thyroid disease_Homo sapiens_hsa053202.48315658
19Butanoate metabolism_Homo sapiens_hsa006502.44214578
20Fatty acid metabolism_Homo sapiens_hsa012122.39101894
21Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.33077865
22Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.15529542
23PPAR signaling pathway_Homo sapiens_hsa033202.14496879
24Pyruvate metabolism_Homo sapiens_hsa006202.11386724
25Peroxisome_Homo sapiens_hsa041462.08798886
26Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.05522999
27Pentose and glucuronate interconversions_Homo sapiens_hsa000401.98583853
28Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.97688561
29Carbon metabolism_Homo sapiens_hsa012001.94409545
30Type I diabetes mellitus_Homo sapiens_hsa049401.85692659
31beta-Alanine metabolism_Homo sapiens_hsa004101.81396113
32B cell receptor signaling pathway_Homo sapiens_hsa046621.77700482
33Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.62527782
34NF-kappa B signaling pathway_Homo sapiens_hsa040641.62340634
35Complement and coagulation cascades_Homo sapiens_hsa046101.61731582
36Sulfur metabolism_Homo sapiens_hsa009201.56556665
37Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.56216403
38Biosynthesis of amino acids_Homo sapiens_hsa012301.54619701
39Drug metabolism - other enzymes_Homo sapiens_hsa009831.54440158
40Selenocompound metabolism_Homo sapiens_hsa004501.50998816
41Caffeine metabolism_Homo sapiens_hsa002321.50920791
42Phototransduction_Homo sapiens_hsa047441.49617940
43Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.48601824
44Leishmaniasis_Homo sapiens_hsa051401.47061215
45Cyanoamino acid metabolism_Homo sapiens_hsa004601.46759057
46Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.42687773
47Histidine metabolism_Homo sapiens_hsa003401.41198278
48Maturity onset diabetes of the young_Homo sapiens_hsa049501.40074439
49Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.38896870
50Phenylalanine metabolism_Homo sapiens_hsa003601.38688996
51Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.37832572
52Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.37172904
53Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.36826528
54Chemical carcinogenesis_Homo sapiens_hsa052041.36463297
55Bile secretion_Homo sapiens_hsa049761.35644071
56Starch and sucrose metabolism_Homo sapiens_hsa005001.35615749
57Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.33952801
58RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.33194767
59Homologous recombination_Homo sapiens_hsa034401.30729566
60Cysteine and methionine metabolism_Homo sapiens_hsa002701.30615329
61Fatty acid elongation_Homo sapiens_hsa000621.29428061
62Fat digestion and absorption_Homo sapiens_hsa049751.28950237
63Antigen processing and presentation_Homo sapiens_hsa046121.27125953
64T cell receptor signaling pathway_Homo sapiens_hsa046601.26234964
65Systemic lupus erythematosus_Homo sapiens_hsa053221.25556402
66Hematopoietic cell lineage_Homo sapiens_hsa046401.24604387
67Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.22027534
68Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.21523582
69Osteoclast differentiation_Homo sapiens_hsa043801.20431481
70Tyrosine metabolism_Homo sapiens_hsa003501.15149858
71Steroid hormone biosynthesis_Homo sapiens_hsa001401.14693037
72Folate biosynthesis_Homo sapiens_hsa007901.12563867
73Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.11053864
74Fanconi anemia pathway_Homo sapiens_hsa034601.10287519
75Retinol metabolism_Homo sapiens_hsa008301.06968993
76Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.05766788
77Tuberculosis_Homo sapiens_hsa051521.03729279
78Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.01827409
79Herpes simplex infection_Homo sapiens_hsa051681.01654040
80Sulfur relay system_Homo sapiens_hsa041221.01313590
81Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.99658707
82Lysine degradation_Homo sapiens_hsa003100.98083101
83Ether lipid metabolism_Homo sapiens_hsa005650.96757812
84ABC transporters_Homo sapiens_hsa020100.96590994
85Acute myeloid leukemia_Homo sapiens_hsa052210.96429359
86Jak-STAT signaling pathway_Homo sapiens_hsa046300.93888721
87Glycerolipid metabolism_Homo sapiens_hsa005610.93250799
88Pentose phosphate pathway_Homo sapiens_hsa000300.93250771
89Arginine and proline metabolism_Homo sapiens_hsa003300.92353726
90Fatty acid biosynthesis_Homo sapiens_hsa000610.90576683
91Taste transduction_Homo sapiens_hsa047420.90454920
92NOD-like receptor signaling pathway_Homo sapiens_hsa046210.89458458
93Platelet activation_Homo sapiens_hsa046110.86550011
94Influenza A_Homo sapiens_hsa051640.84162709
95TNF signaling pathway_Homo sapiens_hsa046680.81604435
96Measles_Homo sapiens_hsa051620.81492194
97Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.80306750
98Staphylococcus aureus infection_Homo sapiens_hsa051500.79538907
99Transcriptional misregulation in cancer_Homo sapiens_hsa052020.79140385
100Toxoplasmosis_Homo sapiens_hsa051450.76875751
101Vitamin digestion and absorption_Homo sapiens_hsa049770.75670771
102Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.75602944
103Dorso-ventral axis formation_Homo sapiens_hsa043200.73230578
104Toll-like receptor signaling pathway_Homo sapiens_hsa046200.72703408
105Phosphatidylinositol signaling system_Homo sapiens_hsa040700.72478568
106Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.71102390
107Glutathione metabolism_Homo sapiens_hsa004800.67573073
108Viral myocarditis_Homo sapiens_hsa054160.67025371
109Ovarian steroidogenesis_Homo sapiens_hsa049130.66393468
110Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.65255433
111Fructose and mannose metabolism_Homo sapiens_hsa000510.62849804
112Arachidonic acid metabolism_Homo sapiens_hsa005900.62428082
113Galactose metabolism_Homo sapiens_hsa000520.62205846
114Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.62130827
115Calcium signaling pathway_Homo sapiens_hsa040200.61970387
116One carbon pool by folate_Homo sapiens_hsa006700.61574488
117Hepatitis C_Homo sapiens_hsa051600.61264119
118Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.60919538
119Olfactory transduction_Homo sapiens_hsa047400.59657094
120Lysosome_Homo sapiens_hsa041420.56884128
121mTOR signaling pathway_Homo sapiens_hsa041500.56618032
122Insulin resistance_Homo sapiens_hsa049310.56121251
123Rheumatoid arthritis_Homo sapiens_hsa053230.55433750
124Metabolic pathways_Homo sapiens_hsa011000.54005270
125Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.53756664
126Morphine addiction_Homo sapiens_hsa050320.53285386
127Chemokine signaling pathway_Homo sapiens_hsa040620.53188642
128Adipocytokine signaling pathway_Homo sapiens_hsa049200.53046340
129RNA polymerase_Homo sapiens_hsa030200.53033548
130Glucagon signaling pathway_Homo sapiens_hsa049220.52635384
131Regulation of autophagy_Homo sapiens_hsa041400.51612680
132Salivary secretion_Homo sapiens_hsa049700.51517715
133Non-small cell lung cancer_Homo sapiens_hsa052230.49278579
134Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.48078484
135Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.47404357
136Hepatitis B_Homo sapiens_hsa051610.46867552
137Inositol phosphate metabolism_Homo sapiens_hsa005620.46467636
138Choline metabolism in cancer_Homo sapiens_hsa052310.41208303
139Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.40580776
140Vascular smooth muscle contraction_Homo sapiens_hsa042700.40132219
141Parkinsons disease_Homo sapiens_hsa050120.36572505
142AMPK signaling pathway_Homo sapiens_hsa041520.35273740
143Oxidative phosphorylation_Homo sapiens_hsa001900.33164525
144Insulin signaling pathway_Homo sapiens_hsa049100.23361720
145Steroid biosynthesis_Homo sapiens_hsa001000.22959349
146Vitamin B6 metabolism_Homo sapiens_hsa007500.21960236
147Glycerophospholipid metabolism_Homo sapiens_hsa005640.17355169
148Carbohydrate digestion and absorption_Homo sapiens_hsa049730.14061551
149Alzheimers disease_Homo sapiens_hsa050100.12987143
150alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.09614615
151Glycosaminoglycan degradation_Homo sapiens_hsa005310.09585575
152Central carbon metabolism in cancer_Homo sapiens_hsa052300.08203789
153Prion diseases_Homo sapiens_hsa050200.05873273
154Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.03932034
155Huntingtons disease_Homo sapiens_hsa050160.01175934
156Renin-angiotensin system_Homo sapiens_hsa046140.00868141
157Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604-2.9855770
158Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923-0.1023752
159Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970-0.0983350
160Protein digestion and absorption_Homo sapiens_hsa04974-0.0708565
161Type II diabetes mellitus_Homo sapiens_hsa04930-0.0600333
162Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961-0.0481945
163Linoleic acid metabolism_Homo sapiens_hsa00591-0.0432428
164Cardiac muscle contraction_Homo sapiens_hsa04260-0.0329943
165Longevity regulating pathway - mammal_Homo sapiens_hsa04211-0.0175469
166Thyroid hormone synthesis_Homo sapiens_hsa04918-0.0132522
167Other glycan degradation_Homo sapiens_hsa00511-0.0084990
168Longevity regulating pathway - multiple species_Homo sapiens_hsa04213-0.0082934

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