CBFA2T2

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: In acute myeloid leukemia, especially in the M2 subtype, the t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities. The translocation produces a chimeric gene made up of the 5'-region of the RUNX1 (AML1) gene fused to the 3'-region of the CBFA2T1 (MTG8) gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. The protein encoded by this gene binds to the AML1-MTG8 complex and may be important in promoting leukemogenesis. Several transcript variants are thought to exist for this gene, but the full-length natures of only three have been described. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1behavioral response to nicotine (GO:0035095)7.17626972
2ribosomal small subunit assembly (GO:0000028)6.32458066
3regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:00033395.57505762
4mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)5.34328778
5DNA deamination (GO:0045006)5.29047902
6antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G5.18931992
7viral transcription (GO:0019083)5.16336759
8negative regulation of metanephros development (GO:0072217)5.15925170
9nephron tubule formation (GO:0072079)5.13098150
10translational termination (GO:0006415)4.95687720
11GDP-mannose metabolic process (GO:0019673)4.90149529
12lymphoid progenitor cell differentiation (GO:0002320)4.78455608
13regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)4.76539448
14platelet dense granule organization (GO:0060155)4.76205075
15positive regulation of cellular amine metabolic process (GO:0033240)4.67036588
16peptidyl-threonine dephosphorylation (GO:0035970)4.66328792
17regulation of apoptotic process involved in morphogenesis (GO:1902337)4.62723458
18SRP-dependent cotranslational protein targeting to membrane (GO:0006614)4.61858238
19pattern specification involved in kidney development (GO:0061004)4.60401913
20telomere maintenance via semi-conservative replication (GO:0032201)4.58040683
21negative regulation of erythrocyte differentiation (GO:0045647)4.52684515
22ribosomal small subunit biogenesis (GO:0042274)4.52189529
23cotranslational protein targeting to membrane (GO:0006613)4.51902970
24detection of light stimulus involved in visual perception (GO:0050908)4.48568151
25detection of light stimulus involved in sensory perception (GO:0050962)4.48568151
26protein targeting to ER (GO:0045047)4.46777141
27regulation of synapse structural plasticity (GO:0051823)4.45387360
28translational elongation (GO:0006414)4.35355463
29positive regulation of glycoprotein biosynthetic process (GO:0010560)4.31862378
30protein localization to endoplasmic reticulum (GO:0070972)4.26775976
31establishment of protein localization to endoplasmic reticulum (GO:0072599)4.23919418
32response to interferon-alpha (GO:0035455)4.23581007
33cell migration in hindbrain (GO:0021535)4.21137333
34generation of neurons (GO:0048699)4.18856126
35urogenital system development (GO:0001655)4.16530664
36regulation of type B pancreatic cell apoptotic process (GO:2000674)4.06934999
37negative regulation of mesenchymal cell apoptotic process (GO:2001054)3.99240823
38respiratory chain complex IV assembly (GO:0008535)3.97248226
39cellular response to ATP (GO:0071318)3.94676585
40neuromuscular synaptic transmission (GO:0007274)3.93851478
41mesonephros development (GO:0001823)3.90405555
42maturation of SSU-rRNA (GO:0030490)3.89795725
43antigen processing and presentation via MHC class Ib (GO:0002475)3.89529692
44positive regulation of hormone metabolic process (GO:0032352)3.88444609
45positive regulation of protein export from nucleus (GO:0046827)3.86802138
46fucose catabolic process (GO:0019317)3.85364879
47L-fucose metabolic process (GO:0042354)3.85364879
48L-fucose catabolic process (GO:0042355)3.85364879
49definitive hemopoiesis (GO:0060216)3.85345800
50endosome to melanosome transport (GO:0035646)3.84105838
51endosome to pigment granule transport (GO:0043485)3.84105838
52DNA strand elongation involved in DNA replication (GO:0006271)3.81810045
53viral life cycle (GO:0019058)3.78680798
54nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.76996725
55telomere maintenance via recombination (GO:0000722)3.75020345
56deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.73799585
57pyrimidine nucleobase catabolic process (GO:0006208)3.71090473
58mitotic cell cycle arrest (GO:0071850)3.67301094
59DNA strand elongation (GO:0022616)3.67028679
60negative regulation of cell aging (GO:0090344)3.64818507
61cellular protein complex disassembly (GO:0043624)3.64459644
62DNA replication initiation (GO:0006270)3.62053230
63negative regulation of translation involved in gene silencing by miRNA (GO:0035278)3.61862397
64negative regulation of translation, ncRNA-mediated (GO:0040033)3.61862397
65regulation of translation, ncRNA-mediated (GO:0045974)3.61862397
66regulation of skeletal muscle contraction (GO:0014819)3.56422126
67translational initiation (GO:0006413)3.55124066
68transepithelial transport (GO:0070633)3.53261180
69mannosylation (GO:0097502)3.50724790
70positive regulation of metanephros development (GO:0072216)3.49679635
71postsynaptic membrane organization (GO:0001941)3.46670770
72response to interferon-beta (GO:0035456)3.43091675
73peristalsis (GO:0030432)3.42599225
74positive regulation of CREB transcription factor activity (GO:0032793)3.41568855
75genitalia morphogenesis (GO:0035112)3.39931945
76metanephric nephron tubule development (GO:0072234)3.39499813
77metanephric tubule development (GO:0072170)3.39499813
78megakaryocyte development (GO:0035855)3.34986688
79protein complex disassembly (GO:0043241)3.31192726
80urinary tract smooth muscle contraction (GO:0014848)3.29476504
81gamma-aminobutyric acid transport (GO:0015812)3.29009824
82mesenchymal to epithelial transition (GO:0060231)3.27699430
83mitotic recombination (GO:0006312)3.25024255
84synaptic transmission, cholinergic (GO:0007271)3.24084696
85negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)3.21976918
86positive regulation of glycoprotein metabolic process (GO:1903020)3.21770849
87pseudouridine synthesis (GO:0001522)3.21052502
88regulation of stem cell maintenance (GO:2000036)3.20936250
89cilium or flagellum-dependent cell motility (GO:0001539)3.20378730
90spinal cord motor neuron differentiation (GO:0021522)3.20094053
91mature B cell differentiation involved in immune response (GO:0002313)3.15153136
92macromolecular complex disassembly (GO:0032984)3.14824289
93thyroid gland development (GO:0030878)3.12792316
94GPI anchor biosynthetic process (GO:0006506)3.12638534
95sympathetic nervous system development (GO:0048485)3.11234454
96regulation of hormone metabolic process (GO:0032350)3.08871791
97nucleobase catabolic process (GO:0046113)3.08711484
98axonal fasciculation (GO:0007413)3.06918974
99positive regulation of gluconeogenesis (GO:0045722)3.06547938
100facial nerve structural organization (GO:0021612)3.04860095
101cellular anion homeostasis (GO:0030002)3.02410926
102telomere maintenance via telomere lengthening (GO:0010833)3.01726984
103negative regulation of cytosolic calcium ion concentration (GO:0051481)3.01088695
104dendritic spine morphogenesis (GO:0060997)2.98702585
105nuclear-transcribed mRNA catabolic process (GO:0000956)2.97924133
106positive regulation of T cell mediated cytotoxicity (GO:0001916)2.97510967
107secretory granule organization (GO:0033363)2.97123508
108negative regulation of kidney development (GO:0090185)2.96926766
109regulation of mesenchymal cell apoptotic process (GO:2001053)2.96566202
110cellular response to thyroid hormone stimulus (GO:0097067)2.95123257
111histone H3-K4 trimethylation (GO:0080182)2.95063493
112cytochrome complex assembly (GO:0017004)2.94053757
113metanephric nephron epithelium development (GO:0072243)2.93545473
114regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.90592182
115lymph node development (GO:0048535)2.89732150
116positive regulation of B cell differentiation (GO:0045579)2.88922939
117cell differentiation in spinal cord (GO:0021515)2.88378649
118synapse assembly (GO:0007416)2.88063398
119cornea development in camera-type eye (GO:0061303)2.87885495
120spinal cord development (GO:0021510)2.87327502
121mast cell activation (GO:0045576)2.87212760
122antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)2.87096955
123antigen processing and presentation of endogenous peptide antigen (GO:0002483)2.87096955
124ribonucleoprotein complex biogenesis (GO:0022613)2.86972747
125metanephric epithelium development (GO:0072207)2.86291423
126defense response to protozoan (GO:0042832)2.86103611
127protein targeting to membrane (GO:0006612)2.84960415
128mRNA catabolic process (GO:0006402)2.84894177
129diacylglycerol metabolic process (GO:0046339)2.84215630
130transcription elongation from RNA polymerase III promoter (GO:0006385)2.82755858
131termination of RNA polymerase III transcription (GO:0006386)2.82755858
132C-terminal protein lipidation (GO:0006501)2.81935364
133protein import into peroxisome matrix (GO:0016558)2.78328262
134regulation of T cell mediated cytotoxicity (GO:0001914)2.77496413
135epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.77474446
136cytokine production involved in immune response (GO:0002367)2.77264778
137specification of organ identity (GO:0010092)2.77175651
138regulation of action potential (GO:0098900)2.72775347
139semaphorin-plexin signaling pathway (GO:0071526)2.71540919
140ganglion development (GO:0061548)2.68243833
141ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162.66851540
142membrane depolarization during action potential (GO:0086010)2.66149950
143protein localization to synapse (GO:0035418)2.66072134
144kidney morphogenesis (GO:0060993)2.65108083
145transmission of nerve impulse (GO:0019226)2.64336686
146neuron recognition (GO:0008038)2.62583192
147multicellular organismal movement (GO:0050879)2.62261103
148musculoskeletal movement (GO:0050881)2.62261103
149snRNA transcription (GO:0009301)2.61201584
150regulation of cytokine production involved in inflammatory response (GO:1900015)2.58764461
151positive regulation of protein kinase C signaling (GO:0090037)2.58663417
152indolalkylamine metabolic process (GO:0006586)2.57924251
153ionotropic glutamate receptor signaling pathway (GO:0035235)2.57778368
154synaptic transmission, glutamatergic (GO:0035249)2.57385602
155nonmotile primary cilium assembly (GO:0035058)2.56446329
156phosphatidylglycerol biosynthetic process (GO:0006655)2.56246526
157reflex (GO:0060004)2.56093304
158auditory behavior (GO:0031223)2.55722667
159neuronal action potential (GO:0019228)2.54059753
160piRNA metabolic process (GO:0034587)2.53454368
161cerebellar Purkinje cell differentiation (GO:0021702)2.53185708
162appendage development (GO:0048736)2.53075582
163limb development (GO:0060173)2.53075582
164calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)2.52910471
165neuron fate specification (GO:0048665)2.52496800
166presynaptic membrane assembly (GO:0097105)2.52465223
167nephron tubule morphogenesis (GO:0072078)2.48657624
168nephron epithelium morphogenesis (GO:0072088)2.48657624
169neuronal stem cell maintenance (GO:0097150)2.48104086
170axoneme assembly (GO:0035082)2.47201180
171positive regulation of excitatory postsynaptic membrane potential (GO:2000463)2.45071766
172positive regulation of sodium ion transmembrane transporter activity (GO:2000651)2.43590853
173neural tube formation (GO:0001841)2.43078064
174adult walking behavior (GO:0007628)2.41016586
175presynaptic membrane organization (GO:0097090)2.39688385
176histone H3-K9 methylation (GO:0051567)2.39502229
177protein localization to cilium (GO:0061512)2.38512928
178positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.38360994
179behavioral response to ethanol (GO:0048149)2.38046947
180olfactory bulb development (GO:0021772)2.37584715
181meiotic chromosome segregation (GO:0045132)2.36022435
182positive regulation of heat generation (GO:0031652)2.35132738
183membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.33082177
184DNA methylation involved in gamete generation (GO:0043046)2.32581059
185forebrain neuron differentiation (GO:0021879)2.32491687
186positive regulation of calcium ion-dependent exocytosis (GO:0045956)2.30646871
187response to misfolded protein (GO:0051788)2.29638049
188regulation of hippo signaling (GO:0035330)2.29377621
189cilium movement (GO:0003341)2.28797843
190cellular ketone body metabolic process (GO:0046950)2.28545329
191sex determination (GO:0007530)2.27149600
192glutamate receptor signaling pathway (GO:0007215)2.26193460
193central nervous system projection neuron axonogenesis (GO:0021952)2.25949555
194regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act2.25529637
195epithelial cilium movement (GO:0003351)2.24859697
196sensory perception of taste (GO:0050909)2.24528993
197negative regulation of axonogenesis (GO:0050771)2.23793606

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human4.90047126
2E2F7_22180533_ChIP-Seq_HELA_Human4.87968784
3EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.74331216
4MYC_18555785_ChIP-Seq_MESCs_Mouse3.65304321
5SCL_19346495_ChIP-Seq_HPC-7_Human3.55165825
6SOX9_22984422_ChIP-ChIP_TESTIS_Rat3.42157210
7HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.29548008
8SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse3.21474845
9RUNX1_20887958_ChIP-Seq_HPC-7_Mouse3.19082903
10ELF1_17652178_ChIP-ChIP_JURKAT_Human3.14955242
11NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.05941905
12TAL1_20887958_ChIP-Seq_HPC-7_Mouse2.99579761
13FLI1_20887958_ChIP-Seq_HPC-7_Mouse2.85063229
14DROSHA_22980978_ChIP-Seq_HELA_Human2.82139160
15GABP_17652178_ChIP-ChIP_JURKAT_Human2.74467355
16GATA1_22025678_ChIP-Seq_K562_Human2.69530229
17MYC_18358816_ChIP-ChIP_MESCs_Mouse2.69301947
18MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.69039753
19JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.66978866
20EST1_17652178_ChIP-ChIP_JURKAT_Human2.59309977
21CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human2.58928828
22NOTCH1_21737748_ChIP-Seq_TLL_Human2.58022316
23ERG_20887958_ChIP-Seq_HPC-7_Mouse2.50435189
24KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.49701769
25IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.46646223
26ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.40363176
27ETS1_20019798_ChIP-Seq_JURKAT_Human2.39214985
28LYL1_20887958_ChIP-Seq_HPC-7_Mouse2.32417127
29SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.28114464
30IRF8_22096565_ChIP-ChIP_GC-B_Human2.27105821
31VDR_23849224_ChIP-Seq_CD4+_Human2.26397524
32EZH2_27294783_Chip-Seq_ESCs_Mouse2.25072403
33ZNF274_21170338_ChIP-Seq_K562_Hela2.24325897
34MYC_19030024_ChIP-ChIP_MESCs_Mouse2.22089339
35HOXB4_20404135_ChIP-ChIP_EML_Mouse2.20870359
36REST_21632747_ChIP-Seq_MESCs_Mouse2.20472909
37* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.14405597
38JARID2_20075857_ChIP-Seq_MESCs_Mouse2.13959227
39* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse2.13448762
40EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.09963126
41SUZ12_27294783_Chip-Seq_ESCs_Mouse2.06990870
42CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.05977117
43MYC_19079543_ChIP-ChIP_MESCs_Mouse2.03371815
44MYB_21317192_ChIP-Seq_ERMYB_Mouse2.02973335
45GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.00859505
46FOXP3_21729870_ChIP-Seq_TREG_Human1.97763893
47EED_16625203_ChIP-ChIP_MESCs_Mouse1.97094475
48EZH2_27304074_Chip-Seq_ESCs_Mouse1.96481231
49SPI1_23547873_ChIP-Seq_NB4_Human1.96242604
50IKZF1_21737484_ChIP-ChIP_HCT116_Human1.95634504
51FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.95211351
52GBX2_23144817_ChIP-Seq_PC3_Human1.95069149
53CBX2_27304074_Chip-Seq_ESCs_Mouse1.93677973
54SRF_21415370_ChIP-Seq_HL-1_Mouse1.93330863
55MYC_22102868_ChIP-Seq_BL_Human1.93121080
56JARID2_20064375_ChIP-Seq_MESCs_Mouse1.89623218
57TP63_19390658_ChIP-ChIP_HaCaT_Human1.84959640
58NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.84867098
59LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.84831951
60THAP11_20581084_ChIP-Seq_MESCs_Mouse1.83724518
61GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.83387998
62VDR_21846776_ChIP-Seq_THP-1_Human1.78669876
63E2F4_17652178_ChIP-ChIP_JURKAT_Human1.77941457
64ERG_21242973_ChIP-ChIP_JURKAT_Human1.76784556
65* XRN2_22483619_ChIP-Seq_HELA_Human1.76240296
66* E2F1_18555785_ChIP-Seq_MESCs_Mouse1.76238870
67CTCF_27219007_Chip-Seq_Bcells_Human1.75455214
68RNF2_27304074_Chip-Seq_ESCs_Mouse1.74860236
69ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.73603261
70HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.72978464
71REST_18959480_ChIP-ChIP_MESCs_Mouse1.72365344
72AR_21572438_ChIP-Seq_LNCaP_Human1.72082820
73SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.70485027
74* RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.69915271
75SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.67128816
76NELFA_20434984_ChIP-Seq_ESCs_Mouse1.62561068
77IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.57217539
78* CIITA_25753668_ChIP-Seq_RAJI_Human1.57079960
79MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.55689638
80VDR_22108803_ChIP-Seq_LS180_Human1.55200205
81IGF1R_20145208_ChIP-Seq_DFB_Human1.55043571
82CREB1_15753290_ChIP-ChIP_HEK293T_Human1.55033305
83DCP1A_22483619_ChIP-Seq_HELA_Human1.54103513
84GABP_19822575_ChIP-Seq_HepG2_Human1.52369396
85SALL1_21062744_ChIP-ChIP_HESCs_Human1.51673060
86MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.51515232
87GATA1_22383799_ChIP-Seq_G1ME_Mouse1.51372236
88P68_20966046_ChIP-Seq_HELA_Human1.51253148
89SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.49031122
90TTF2_22483619_ChIP-Seq_HELA_Human1.48979849
91* ZFX_18555785_ChIP-Seq_MESCs_Mouse1.48112384
92CTBP2_25329375_ChIP-Seq_LNCAP_Human1.47643592
93BMI1_23680149_ChIP-Seq_NPCS_Mouse1.47562339
94STAT6_21828071_ChIP-Seq_BEAS2B_Human1.45248972
95* ERA_21632823_ChIP-Seq_H3396_Human1.44863720
96EZH2_18974828_ChIP-Seq_MESCs_Mouse1.43605576
97RNF2_18974828_ChIP-Seq_MESCs_Mouse1.43605576
98VDR_24763502_ChIP-Seq_THP-1_Human1.43307525
99STAT4_19710469_ChIP-ChIP_TH1__Mouse1.43250570
100SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.43214525
101CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.41805064
102RUNX1_22412390_ChIP-Seq_EML_Mouse1.40261943
103E2F1_20622854_ChIP-Seq_HELA_Human1.38783908
104FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.36651142
105YY1_21170310_ChIP-Seq_MESCs_Mouse1.36143891
106MTF2_20144788_ChIP-Seq_MESCs_Mouse1.36086255
107GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.34805953
108ELK1_19687146_ChIP-ChIP_HELA_Human1.34420496
109PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.33298965
110MYB_26560356_Chip-Seq_TH2_Human1.33126038
111CTBP1_25329375_ChIP-Seq_LNCAP_Human1.31195753
112SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.29861222
113RING1B_27294783_Chip-Seq_ESCs_Mouse1.28708963
114ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.28411086
115EGR1_19374776_ChIP-ChIP_THP-1_Human1.27685381
116POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.26946893
117TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.26946893
118MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.26398761
119* PHF8_20622854_ChIP-Seq_HELA_Human1.26132858
120GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.25976330
121MYB_26560356_Chip-Seq_TH1_Human1.24574759
122MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.24468087
123TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.23853580
124RNF2_27304074_Chip-Seq_NSC_Mouse1.23632291
125BP1_19119308_ChIP-ChIP_Hs578T_Human1.23147203
126ZFP57_27257070_Chip-Seq_ESCs_Mouse1.22535863
127* MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.22079867
128GATA2_22383799_ChIP-Seq_G1ME_Mouse1.21234722
129OCT4_20526341_ChIP-Seq_ESCs_Human1.20732234
130* OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.20506508
131MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.17979793
132POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.16563788
133MYC_19829295_ChIP-Seq_ESCs_Human1.16178971
134TP53_22573176_ChIP-Seq_HFKS_Human1.14473109
135OCT4_19829295_ChIP-Seq_ESCs_Human1.12437504
136CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.12243275
137SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.10250193
138BCL6_27268052_Chip-Seq_Bcells_Human1.09977548
139* MYCN_18555785_ChIP-Seq_MESCs_Mouse1.09880347
140SMC4_20622854_ChIP-Seq_HELA_Human1.09629756
141WDR5_24793694_ChIP-Seq_LNCAP_Human1.08801654
142E2F1_21310950_ChIP-Seq_MCF-7_Human1.08152788
143MAF_26560356_Chip-Seq_TH1_Human1.08090519
144CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.07636801
145P53_21459846_ChIP-Seq_SAOS-2_Human1.07083753
146SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.06811173
147TAF15_26573619_Chip-Seq_HEK293_Human1.06187915
148PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.05615031
149RARB_27405468_Chip-Seq_BRAIN_Mouse1.05606148
150BCOR_27268052_Chip-Seq_Bcells_Human1.04469412
151EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.04112866
152IRF8_21731497_ChIP-ChIP_J774_Mouse1.02650521
153GATA1_19941827_ChIP-Seq_MEL_Mouse1.02166894
154* STAT3_23295773_ChIP-Seq_U87_Human1.01094780
155CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.01021400
156* PU.1_20513432_ChIP-Seq_Bcells_Mouse1.00924291
157CREB1_26743006_Chip-Seq_LNCaP_Human1.00546746
158PIAS1_25552417_ChIP-Seq_VCAP_Human1.00514879
159EWS_26573619_Chip-Seq_HEK293_Human1.00475024
160NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse1.00077393
161SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.00032347
162NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse0.99287358
163CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.99231114
164CTCF_20526341_ChIP-Seq_ESCs_Human0.99018664
165YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.98887551
166CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons0.98623634
167MYC_18940864_ChIP-ChIP_HL60_Human0.97620476
168UTX_26944678_Chip-Seq_JUKART_Human0.96989040
169PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.96796214
170RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.96580927
171FUS_26573619_Chip-Seq_HEK293_Human0.96386465
172RING1B_27294783_Chip-Seq_NPCs_Mouse0.95864076
173RBPJ_21746931_ChIP-Seq_IB4-LCL_Human0.95720436
174FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.95341828
175PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.95208108
176YY1_22570637_ChIP-Seq_MALME-3M_Human0.94508999
177AR_19668381_ChIP-Seq_PC3_Human0.94142573
178TDRD3_21172665_ChIP-Seq_MCF-7_Human0.93212166
179DNAJC2_21179169_ChIP-ChIP_NT2_Human0.92621007
180RBPJ_22232070_ChIP-Seq_NCS_Mouse0.91736605
181DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.91303320
182TAF2_19829295_ChIP-Seq_ESCs_Human0.90595163
183PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.90224345
184NANOG_20526341_ChIP-Seq_ESCs_Human0.90129580
185SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse0.90079069
186RARB_24833708_ChIP-Seq_LIVER_Mouse0.90043937
187* TCF4_23295773_ChIP-Seq_U87_Human0.89375743
188TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.88907966
189ETV2_25802403_ChIP-Seq_MESCs_Mouse0.88582816
190ER_23166858_ChIP-Seq_MCF-7_Human0.87183741
191* TCF7_22412390_ChIP-Seq_EML_Mouse0.87053373
192* SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.87029145
193PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.86364210
194BRD4_27068464_Chip-Seq_AML-cells_Mouse0.85476949
195ETS1_22383799_ChIP-Seq_G1ME_Mouse0.83905100
196CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.82348097
197BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.81488554
198EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.79164844

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005423_abnormal_somatic_nervous4.40319858
2MP0002396_abnormal_hematopoietic_system4.39022530
3MP0005174_abnormal_tail_pigmentation3.89115603
4MP0009379_abnormal_foot_pigmentation3.77945165
5MP0002822_catalepsy3.21803690
6MP0001188_hyperpigmentation3.06769611
7MP0005171_absent_coat_pigmentation3.02359485
8MP0004147_increased_porphyrin_level3.01791041
9MP0005075_abnormal_melanosome_morpholog2.92161086
10MP0006292_abnormal_olfactory_placode2.83534075
11MP0003868_abnormal_feces_composition2.75956433
12MP0001835_abnormal_antigen_presentation2.70693948
13MP0005409_darkened_coat_color2.69069946
14MP0003879_abnormal_hair_cell2.65921013
15MP0002735_abnormal_chemical_nociception2.54454525
16MP0001545_abnormal_hematopoietic_system2.54170974
17MP0005397_hematopoietic_system_phenotyp2.54170974
18MP0000685_abnormal_immune_system2.51297849
19MP0009785_altered_susceptibility_to2.51055559
20MP0005671_abnormal_response_to2.43608865
21MP0002095_abnormal_skin_pigmentation2.42341839
22MP0000681_abnormal_thyroid_gland2.40904749
23MP0005645_abnormal_hypothalamus_physiol2.37646008
24MP0003880_abnormal_central_pattern2.31819846
25MP0008007_abnormal_cellular_replicative2.29688296
26MP0004808_abnormal_hematopoietic_stem2.28019995
27MP0001968_abnormal_touch/_nociception2.24200319
28MP0000465_gastrointestinal_hemorrhage2.10570893
29MP0003693_abnormal_embryo_hatching2.10131211
30MP0002653_abnormal_ependyma_morphology2.09571341
31MP0004043_abnormal_pH_regulation2.09548011
32MP0006276_abnormal_autonomic_nervous2.08455601
33MP0000015_abnormal_ear_pigmentation2.05998973
34MP0003763_abnormal_thymus_physiology2.00609697
35MP0005551_abnormal_eye_electrophysiolog1.97212072
36* MP0000490_abnormal_crypts_of1.96555485
37MP0001502_abnormal_circadian_rhythm1.95963738
38MP0000778_abnormal_nervous_system1.89165697
39MP0002398_abnormal_bone_marrow1.88776957
40MP0002909_abnormal_adrenal_gland1.88009949
41MP0010094_abnormal_chromosome_stability1.80665264
42MP0008058_abnormal_DNA_repair1.78767894
43MP0005025_abnormal_response_to1.77272463
44MP0003787_abnormal_imprinting1.76324598
45MP0009745_abnormal_behavioral_response1.73699802
46MP0000689_abnormal_spleen_morphology1.69406759
47MP0001986_abnormal_taste_sensitivity1.68988334
48MP0003646_muscle_fatigue1.68705101
49MP0002557_abnormal_social/conspecific_i1.67288829
50MP0003635_abnormal_synaptic_transmissio1.66483862
51MP0004133_heterotaxia1.65637073
52MP0001873_stomach_inflammation1.64947059
53MP0009046_muscle_twitch1.63017782
54MP0004145_abnormal_muscle_electrophysio1.60198898
55MP0005253_abnormal_eye_physiology1.58559394
56MP0002734_abnormal_mechanical_nocicepti1.56774252
57MP0010386_abnormal_urinary_bladder1.56746931
58MP0002272_abnormal_nervous_system1.56433214
59MP0002722_abnormal_immune_system1.56371407
60MP0001486_abnormal_startle_reflex1.55655198
61MP0003724_increased_susceptibility_to1.54664205
62MP0002736_abnormal_nociception_after1.54555082
63MP0002148_abnormal_hypersensitivity_rea1.54381290
64MP0002572_abnormal_emotion/affect_behav1.53842144
65MP0001800_abnormal_humoral_immune1.53406106
66MP0001970_abnormal_pain_threshold1.53231160
67MP0005464_abnormal_platelet_physiology1.52921521
68MP0002063_abnormal_learning/memory/cond1.52404817
69MP0002420_abnormal_adaptive_immunity1.49535645
70MP0004859_abnormal_synaptic_plasticity1.49527209
71MP0006054_spinal_hemorrhage1.49445794
72MP0000716_abnormal_immune_system1.48657566
73MP0000538_abnormal_urinary_bladder1.48485534
74MP0005377_hearing/vestibular/ear_phenot1.48417123
75MP0003878_abnormal_ear_physiology1.48417123
76MP0001819_abnormal_immune_cell1.47003726
77MP0002064_seizures1.45625952
78MP0000631_abnormal_neuroendocrine_gland1.44261107
79MP0003866_abnormal_defecation1.43559997
80MP0004142_abnormal_muscle_tone1.43417624
81MP0002723_abnormal_immune_serum1.43053164
82MP0003656_abnormal_erythrocyte_physiolo1.43001355
83MP0004270_analgesia1.42024377
84MP0002429_abnormal_blood_cell1.41906421
85MP0002733_abnormal_thermal_nociception1.40753575
86MP0009333_abnormal_splenocyte_physiolog1.39680863
87MP0008057_abnormal_DNA_replication1.39594623
88MP0002452_abnormal_antigen_presenting1.38263215
89MP0005000_abnormal_immune_tolerance1.36575233
90MP0006072_abnormal_retinal_apoptosis1.36450601
91MP0004885_abnormal_endolymph1.36283457
92MP0008875_abnormal_xenobiotic_pharmacok1.35674235
93MP0002166_altered_tumor_susceptibility1.35168445
94MP0002160_abnormal_reproductive_system1.34183060
95MP0004924_abnormal_behavior1.33786776
96MP0005386_behavior/neurological_phenoty1.33786776
97MP0004957_abnormal_blastocyst_morpholog1.29881109
98MP0001501_abnormal_sleep_pattern1.28894259
99MP0003890_abnormal_embryonic-extraembry1.28821179
100MP0001756_abnormal_urination1.28684799
101MP0000049_abnormal_middle_ear1.28227648
102MP0003077_abnormal_cell_cycle1.27211245
103MP0000569_abnormal_digit_pigmentation1.26382743
104MP0000372_irregular_coat_pigmentation1.25783271
105MP0002067_abnormal_sensory_capabilities1.24051409
106MP0006036_abnormal_mitochondrial_physio1.22597991
107MP0002938_white_spotting1.21360979
108MP0002184_abnormal_innervation1.20965221
109MP0001853_heart_inflammation1.19070516
110MP0004130_abnormal_muscle_cell1.17026675
111MP0008872_abnormal_physiological_respon1.15410217
112MP0002419_abnormal_innate_immunity1.15225791
113MP0002177_abnormal_outer_ear1.14132611
114MP0002928_abnormal_bile_duct1.13287974
115MP0002019_abnormal_tumor_incidence1.13117095
116MP0001348_abnormal_lacrimal_gland1.13094394
117MP0002882_abnormal_neuron_morphology1.12401243
118MP0001905_abnormal_dopamine_level1.09274960
119MP0000955_abnormal_spinal_cord1.08719981
120MP0003436_decreased_susceptibility_to1.08448879
121MP0000703_abnormal_thymus_morphology1.08179869
122MP0003959_abnormal_lean_body1.07783977
123* MP0010155_abnormal_intestine_physiology1.07289120
124MP0001485_abnormal_pinna_reflex1.07203669
125MP0008961_abnormal_basal_metabolism1.05034309
126MP0002132_abnormal_respiratory_system1.03883836
127MP0000026_abnormal_inner_ear1.03436258
128MP0002752_abnormal_somatic_nervous1.03085238
129MP0003806_abnormal_nucleotide_metabolis1.01441751
130MP0002006_tumorigenesis1.00720189
131MP0002638_abnormal_pupillary_reflex1.00509552
132MP0003122_maternal_imprinting0.99760360
133MP0008877_abnormal_DNA_methylation0.98491033
134MP0002876_abnormal_thyroid_physiology0.97397184
135MP0005646_abnormal_pituitary_gland0.96825386
136MP0008569_lethality_at_weaning0.95932984
137MP0002152_abnormal_brain_morphology0.95668520
138MP0005266_abnormal_metabolism0.94162405
139MP0002877_abnormal_melanocyte_morpholog0.94043464
140MP0003121_genomic_imprinting0.92575615
141MP0003938_abnormal_ear_development0.91332424
142MP0008995_early_reproductive_senescence0.89693557
143MP0001790_abnormal_immune_system0.89301761
144MP0005387_immune_system_phenotype0.89301761
145MP0003943_abnormal_hepatobiliary_system0.89023190
146MP0005083_abnormal_biliary_tract0.88967249
147MP0001944_abnormal_pancreas_morphology0.88461487
148MP0003786_premature_aging0.87653291
149MP0003119_abnormal_digestive_system0.86825736
150MP0002075_abnormal_coat/hair_pigmentati0.86433807
151MP0000313_abnormal_cell_death0.84971020
152MP0005195_abnormal_posterior_eye0.84280513
153MP0003195_calcinosis0.83827474
154MP0003186_abnormal_redox_activity0.82661798
155MP0008469_abnormal_protein_level0.82597955
156MP0002405_respiratory_system_inflammati0.82562178
157MP0003137_abnormal_impulse_conducting0.82408451
158MP0005448_abnormal_energy_balance0.82244494
159MP0003861_abnormal_nervous_system0.80798124
160MP0000343_altered_response_to0.80358842
161MP0001919_abnormal_reproductive_system0.80238541
162MP0004742_abnormal_vestibular_system0.79844609
163MP0002066_abnormal_motor_capabilities/c0.79631338
164MP0002210_abnormal_sex_determination0.78933117
165MP0001963_abnormal_hearing_physiology0.78197327
166MP0004811_abnormal_neuron_physiology0.77706495
167* MP0001845_abnormal_inflammatory_respons0.77519854
168MP0002069_abnormal_eating/drinking_beha0.76433677
169MP0003111_abnormal_nucleus_morphology0.74630023
170MP0005499_abnormal_olfactory_system0.73375889
171MP0005394_taste/olfaction_phenotype0.73375889
172MP0002249_abnormal_larynx_morphology0.72876142
173* MP0000477_abnormal_intestine_morphology0.72448892
174MP0001664_abnormal_digestion0.71841815
175MP0003123_paternal_imprinting0.69913827
176MP0003567_abnormal_fetal_cardiomyocyte0.68880695
177MP0001663_abnormal_digestive_system0.67339569
178MP0002751_abnormal_autonomic_nervous0.66776441
179MP0000678_abnormal_parathyroid_gland0.66439493
180MP0000358_abnormal_cell_content/0.63172123
181MP0005584_abnormal_enzyme/coenzyme_acti0.62086222
182MP0001764_abnormal_homeostasis0.61046093
183MP0003136_yellow_coat_color0.60582760
184MP0001929_abnormal_gametogenesis0.60035669

Predicted human phenotypes

RankGene SetZ-score
1Hypothermia (HP:0002045)7.71771973
2Reduced antithrombin III activity (HP:0001976)7.70621999
3Thyroid-stimulating hormone excess (HP:0002925)7.09207032
4Type I transferrin isoform profile (HP:0003642)6.93660169
5Abnormal number of erythroid precursors (HP:0012131)5.61011419
6Abnormality of cells of the erythroid lineage (HP:0012130)5.57890918
7Rib fusion (HP:0000902)5.09950255
8Abnormal protein glycosylation (HP:0012346)4.95225782
9Abnormal glycosylation (HP:0012345)4.95225782
10Abnormal isoelectric focusing of serum transferrin (HP:0003160)4.95225782
11Abnormal protein N-linked glycosylation (HP:0012347)4.95225782
12Genetic anticipation (HP:0003743)4.64161573
13Congenital stationary night blindness (HP:0007642)4.49680833
14Abnormality of the heme biosynthetic pathway (HP:0010472)4.21590201
15Absent rod-and cone-mediated responses on ERG (HP:0007688)3.94053363
16Thrombocytosis (HP:0001894)3.76719836
17Reticulocytopenia (HP:0001896)3.70648869
18Type 2 muscle fiber atrophy (HP:0003554)3.62954375
19Mesangial abnormality (HP:0001966)3.60685525
20Aplastic anemia (HP:0001915)3.56963525
21Muscle fiber atrophy (HP:0100295)3.55896869
22Ankle contracture (HP:0006466)3.49187405
23Severe visual impairment (HP:0001141)3.44131648
24Patellar aplasia (HP:0006443)3.39248505
25Chronic hepatic failure (HP:0100626)3.38776515
26IgM deficiency (HP:0002850)3.36482634
27Prolonged partial thromboplastin time (HP:0003645)3.30355491
28Progressive cerebellar ataxia (HP:0002073)3.29143218
29Hyperventilation (HP:0002883)3.27807233
30Elevated erythrocyte sedimentation rate (HP:0003565)3.21985339
31Testicular atrophy (HP:0000029)3.14101644
32Petechiae (HP:0000967)3.13425005
33Aplasia/Hypoplasia of the patella (HP:0006498)3.12784524
34Cortical visual impairment (HP:0100704)3.10402402
35Chronic otitis media (HP:0000389)3.07222473
36Hepatocellular necrosis (HP:0001404)3.06225122
37Pallor (HP:0000980)3.04464453
38Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.96135896
39Bony spicule pigmentary retinopathy (HP:0007737)2.93747309
40Abnormal drinking behavior (HP:0030082)2.93644095
41Polydipsia (HP:0001959)2.93644095
42Acute lymphatic leukemia (HP:0006721)2.92878772
43Abnormality of midbrain morphology (HP:0002418)2.90987719
44Molar tooth sign on MRI (HP:0002419)2.90987719
45Nonprogressive disorder (HP:0003680)2.89862756
46Nephronophthisis (HP:0000090)2.87141399
47Decreased central vision (HP:0007663)2.85274678
48Flat occiput (HP:0005469)2.85155348
49Protruding tongue (HP:0010808)2.84264704
50Myositis (HP:0100614)2.79133730
51Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.74984967
52Macrocytic anemia (HP:0001972)2.71384612
53Facial hemangioma (HP:0000329)2.70844214
54Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.70474891
55Choroideremia (HP:0001139)2.69116947
56Decreased activity of mitochondrial respiratory chain (HP:0008972)2.67271019
57Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.67271019
58Prolonged bleeding time (HP:0003010)2.60492272
59Increased hepatocellular lipid droplets (HP:0006565)2.59510731
60Abnormality of the renal medulla (HP:0100957)2.59208169
61Lower limb hyperreflexia (HP:0002395)2.58974843
62Microvesicular hepatic steatosis (HP:0001414)2.56744152
63Absent speech (HP:0001344)2.55217109
64Abnormal rod and cone electroretinograms (HP:0008323)2.54039629
65Chorioretinal atrophy (HP:0000533)2.53550047
66Acute myeloid leukemia (HP:0004808)2.53411285
67Hepatic necrosis (HP:0002605)2.53216041
68Akinesia (HP:0002304)2.53000061
69Intestinal fistula (HP:0100819)2.50195606
70Dyschromatopsia (HP:0007641)2.49102068
71Gaze-evoked nystagmus (HP:0000640)2.44734311
72Hyperbilirubinemia (HP:0002904)2.44586740
73Hyperpituitarism (HP:0010514)2.42508621
743-Methylglutaconic aciduria (HP:0003535)2.40083604
75Oligodactyly (hands) (HP:0001180)2.39268949
76Exertional dyspnea (HP:0002875)2.39185266
77Facial diplegia (HP:0001349)2.37231855
78Retinal dysplasia (HP:0007973)2.35372926
79Type II lissencephaly (HP:0007260)2.35337713
80Microcytic anemia (HP:0001935)2.34768082
81Pendular nystagmus (HP:0012043)2.32357695
82Tubular atrophy (HP:0000092)2.31611166
83Increased intramyocellular lipid droplets (HP:0012240)2.31219304
84Abnormality of T cell physiology (HP:0011840)2.30857385
85Hypoplastic nipples (HP:0002557)2.30771089
86Amaurosis fugax (HP:0100576)2.30660256
87Lipid accumulation in hepatocytes (HP:0006561)2.28901368
88Decreased electroretinogram (ERG) amplitude (HP:0000654)2.28260121
89Abnormal albumin level (HP:0012116)2.27339419
90Hypoalbuminemia (HP:0003073)2.27339419
91Rectovaginal fistula (HP:0000143)2.25661955
92Rectal fistula (HP:0100590)2.25661955
93Renal Fanconi syndrome (HP:0001994)2.25595288
94Fetal akinesia sequence (HP:0001989)2.25573360
95Panhypogammaglobulinemia (HP:0003139)2.20724889
96Abnormality of alanine metabolism (HP:0010916)2.20410659
97Hyperalaninemia (HP:0003348)2.20410659
98Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.20410659
99Respiratory difficulties (HP:0002880)2.19622093
100Epistaxis (HP:0000421)2.18371819
101Myotonia (HP:0002486)2.18122537
102Recurrent bronchitis (HP:0002837)2.16177068
103Cystic liver disease (HP:0006706)2.15651975
104Decreased circulating renin level (HP:0003351)2.15364093
105Long clavicles (HP:0000890)2.14589817
106Abnormality of the labia majora (HP:0012881)2.12516141
107Broad-based gait (HP:0002136)2.09459412
108Epileptic encephalopathy (HP:0200134)2.09088634
109Polyuria (HP:0000103)2.06773209
110Impaired platelet aggregation (HP:0003540)2.05887260
111Abnormal platelet function (HP:0011869)2.05887260
112Attenuation of retinal blood vessels (HP:0007843)2.05815672
113Pancytopenia (HP:0001876)2.05777840
114Increased muscle lipid content (HP:0009058)2.05327694
115True hermaphroditism (HP:0010459)2.04926162
116Hemiparesis (HP:0001269)2.02868439
117Increased serum lactate (HP:0002151)2.00600572
118Cerebellar dysplasia (HP:0007033)1.98125215
119Poikiloderma (HP:0001029)1.97102254
120Intestinal atresia (HP:0011100)1.96452729
121Birth length less than 3rd percentile (HP:0003561)1.94222777
122Medial flaring of the eyebrow (HP:0010747)1.93646220
123Spina bifida occulta (HP:0003298)1.93598693
124Myelodysplasia (HP:0002863)1.93287405
125Erythema (HP:0010783)1.92803679
126Hepatoblastoma (HP:0002884)1.92319296
127Hypoproteinemia (HP:0003075)1.92116390
128Aplasia/Hypoplasia of the sacrum (HP:0008517)1.90125985
129Inability to walk (HP:0002540)1.89580153
130Gastrointestinal stroma tumor (HP:0100723)1.89277018
131Abnormality of the pubic bones (HP:0003172)1.87818043
132Pancreatic fibrosis (HP:0100732)1.87677774
133Agammaglobulinemia (HP:0004432)1.87316572
134Narrow nasal bridge (HP:0000446)1.87198346
135Bradycardia (HP:0001662)1.86417312
136Abnormality of B cell number (HP:0010975)1.86077300
137B lymphocytopenia (HP:0010976)1.86077300
138Progressive muscle weakness (HP:0003323)1.85914986
139Postnatal microcephaly (HP:0005484)1.85526694
140Agitation (HP:0000713)1.85348354
141Abnormality of the renal cortex (HP:0011035)1.85193589
142Impaired smooth pursuit (HP:0007772)1.83601070
143IgG deficiency (HP:0004315)1.83008454
144Oral leukoplakia (HP:0002745)1.82682973
145Congenital hepatic fibrosis (HP:0002612)1.82229184
146Aplasia/Hypoplasia of the lens (HP:0008063)1.81585400
147Ragged-red muscle fibers (HP:0003200)1.80826403
148Abnormality of the prostate (HP:0008775)1.80138866
149Severe global developmental delay (HP:0011344)1.79666712
150Vaginal fistula (HP:0004320)1.79577534
151Obsessive-compulsive behavior (HP:0000722)1.79494835
152Aplasia of the musculature (HP:0100854)1.79183059
153Macroglossia (HP:0000158)1.79181724
154Colon cancer (HP:0003003)1.78998767
155Abnormality of the fingertips (HP:0001211)1.78391348
156Thin bony cortex (HP:0002753)1.77645794
157Widely patent fontanelles and sutures (HP:0004492)1.77425079
158Mitochondrial inheritance (HP:0001427)1.76656321
159Agnosia (HP:0010524)1.76631743
160Widely spaced teeth (HP:0000687)1.76552370
161Lissencephaly (HP:0001339)1.76249873
162Tented upper lip vermilion (HP:0010804)1.75266172
163Abnormality of the nasal mucosa (HP:0000433)1.75238429
164Hypoplasia of the ulna (HP:0003022)1.74680159
165Annular pancreas (HP:0001734)1.74679285
166Neonatal respiratory distress (HP:0002643)1.74110333
167Hoarse voice (HP:0001609)1.73067365
168Focal seizures (HP:0007359)1.73041208
169Abnormal urine output (HP:0012590)1.72911140
170Hemorrhage of the eye (HP:0011885)1.72578538
171Exotropia (HP:0000577)1.72291610
172Macular degeneration (HP:0000608)1.71230832
173Lymphoma (HP:0002665)1.71122631
174Clumsiness (HP:0002312)1.70998668
175Recurrent abscess formation (HP:0002722)1.70224049
176Short chin (HP:0000331)1.70023052
177Optic nerve coloboma (HP:0000588)1.69675785
178Aplasia/Hypoplasia involving the carpal bones (HP:0006502)1.69165714
179Popliteal pterygium (HP:0009756)1.69066750
180Intellectual disability, severe (HP:0010864)1.69003718
181Abnormality of magnesium homeostasis (HP:0004921)1.67893449
182Pancreatic cysts (HP:0001737)1.67504790
183Gait imbalance (HP:0002141)1.67107707
184Absent radius (HP:0003974)1.67097309
185Joint hemorrhage (HP:0005261)1.66601468
186Truncal obesity (HP:0001956)1.66559940
187Meningitis (HP:0001287)1.66351077
188Abnormal spermatogenesis (HP:0008669)1.65092716

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK4.18033920
2NLK4.06195323
3KIT3.34060166
4WNK43.33737727
5SIK22.93772016
6INSRR2.74553906
7STK162.65781517
8FLT32.55615293
9CDK192.43414312
10MARK12.32073973
11WEE12.30455815
12MUSK2.04575674
13TNIK11.0959163
14NME21.97618813
15DAPK21.90713298
16CAMK1D1.87817533
17EIF2AK31.87366550
18TEC1.86856310
19GRK11.79059645
20PIM21.68472485
21MAP3K41.65395019
22MKNK21.63754665
23ACVR1B1.59523241
24AKT31.55517343
25MKNK11.54548382
26CAMK1G1.53229320
27TGFBR11.53067839
28CSF1R1.52128689
29MATK1.50519015
30EPHA31.47102021
31NTRK21.46906327
32CAMKK21.44498165
33MAP4K21.41954468
34NTRK31.39209126
35BRSK21.37394375
36VRK11.35003394
37DYRK31.33793300
38WNK31.33674937
39STK391.28962426
40BTK1.27435059
41TYRO31.26194109
42WNK11.25580669
43CAMK11.24994562
44FGFR21.22098313
45ADRBK11.20274591
46OXSR11.15718029
47SGK4941.15394967
48SGK2231.15394967
49STK111.14074488
50MAP2K71.08522118
51FES1.05060098
52PAK31.04104505
53PRKD21.03621243
54PHKG11.01143107
55PHKG21.01143107
56TIE11.00659643
57DYRK1B0.98684686
58SCYL20.98246325
59PRKAA10.96595238
60PRKD30.96512747
61MARK20.94583253
62MAP3K120.93485636
63BUB10.92487060
64PRKCH0.90950350
65NUAK10.90547813
66EEF2K0.89943473
67MAP4K10.88898782
68ADRBK20.88349184
69EPHA40.87970572
70YES10.87512274
71TGFBR20.87462983
72MAP3K60.87175934
73CCNB10.87143908
74MAP3K70.87026456
75TLK10.87024687
76MAPKAPK50.85102858
77MAPK40.81943976
78ICK0.80798001
79SGK20.80079525
80RPS6KB20.78727338
81CAMK40.78079135
82EIF2AK20.77670788
83CDK80.76719328
84PKN10.76136661
85ERBB20.74106614
86PRKCZ0.71612982
87CDK70.70439946
88MAP2K40.69826689
89RPS6KA60.69348217
90SYK0.68262994
91PRKCG0.66997865
92SRPK10.66154237
93ZAP700.65003216
94CHUK0.64688781
95MAP2K30.60197481
96BCKDK0.59781387
97CDK50.58884293
98TYK20.58694655
99IRAK40.57802867
100TRIM280.57153161
101RIPK40.55095130
102RAF10.54980302
103RPS6KA20.54953480
104TBK10.54779999
105LYN0.54215558
106MAPKAPK30.53740732
107PNCK0.53487012
108SGK10.53441204
109JAK30.52634811
110DAPK10.51998289
111CLK10.51621972
112LATS10.51363647
113MAPK130.51252747
114PTK2B0.49058443
115IKBKB0.48600147
116PRKG20.48230350
117DYRK1A0.46993670
118CDC70.46945000
119MAPK80.46792122
120PIM10.46186808
121BCR0.44925909
122EPHB20.44225349
123KDR0.43683616
124IKBKE0.43622422
125BMPR1B0.43606965
126PRKAA20.43391070
127LCK0.43288075
128MTOR0.43098981
129PASK0.42520515
130CDK40.42519315
131IRAK20.42457188
132BRSK10.42161265
133CSNK1D0.42089384
134PIK3CA0.41624570
135EIF2AK10.41325548
136MAPK110.40657908
137PRKACA0.39453818
138TXK0.39107739
139PINK10.37553936
140SGK30.35686178
141STK380.35621865
142CSNK1A1L0.35575486
143RPS6KC10.34994609
144RPS6KL10.34994609
145TRIB30.33463582
146* GSK3B0.32860332
147RPS6KA30.32291509
148PRKD10.32056993
149ATR0.32031873
150CSNK2A20.31832670
151CSNK1G20.31123099
152CDK120.30354475
153PAK40.30327800
154MAP2K60.29776639
155BLK0.29616099
156HIPK20.28427910
157SIK30.28382458
158PRKCE0.28373978
159TAOK30.28296862
160STK38L0.28275839
161RPS6KA50.26418677
162CSNK1A10.25826567
163TSSK60.25715299
164CSNK2A10.23992454
165MAP3K110.22046358
166LRRK20.21704669
167CAMKK10.19383930
168NEK20.18973128
169MAPK150.18880891
170TAOK20.18638210
171RPS6KA40.18224061
172CASK0.17783735
173IRAK30.16349249
174MYLK0.16177274
175MAPK30.14913388
176DYRK20.13745185
177PLK10.12997463
178TNK20.12202555

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030305.28789828
2Ribosome_Homo sapiens_hsa030104.80805390
3Thyroid cancer_Homo sapiens_hsa052163.69811221
4Mismatch repair_Homo sapiens_hsa034303.48245110
5Nicotine addiction_Homo sapiens_hsa050333.37924658
6Base excision repair_Homo sapiens_hsa034102.85782274
7Protein export_Homo sapiens_hsa030602.72373752
8Homologous recombination_Homo sapiens_hsa034402.69237791
9RNA polymerase_Homo sapiens_hsa030202.62379708
10Pyrimidine metabolism_Homo sapiens_hsa002402.58733088
11Spliceosome_Homo sapiens_hsa030402.45150935
12Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005332.37247125
13Phototransduction_Homo sapiens_hsa047442.35073966
14Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.31897808
15Nucleotide excision repair_Homo sapiens_hsa034202.23755714
16Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.20782198
17N-Glycan biosynthesis_Homo sapiens_hsa005102.10969855
18Sulfur relay system_Homo sapiens_hsa041222.09495984
19Neuroactive ligand-receptor interaction_Homo sapiens_hsa040802.09395024
20Maturity onset diabetes of the young_Homo sapiens_hsa049502.08997672
21Taste transduction_Homo sapiens_hsa047422.02985500
22alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.97219072
23Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.88969400
24Linoleic acid metabolism_Homo sapiens_hsa005911.80921299
25Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.80804921
26Morphine addiction_Homo sapiens_hsa050321.77380432
27Glutamatergic synapse_Homo sapiens_hsa047241.74756032
28Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.73469213
29Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.67744564
30Acute myeloid leukemia_Homo sapiens_hsa052211.66615849
31Cocaine addiction_Homo sapiens_hsa050301.66218361
32Insulin secretion_Homo sapiens_hsa049111.63745212
33Primary immunodeficiency_Homo sapiens_hsa053401.61010482
34Circadian entrainment_Homo sapiens_hsa047131.60500941
35GABAergic synapse_Homo sapiens_hsa047271.57462777
36Proteasome_Homo sapiens_hsa030501.55608080
37Lysine degradation_Homo sapiens_hsa003101.50032395
38Cholinergic synapse_Homo sapiens_hsa047251.49295259
39Purine metabolism_Homo sapiens_hsa002301.47003367
40Transcriptional misregulation in cancer_Homo sapiens_hsa052021.42423933
41Non-homologous end-joining_Homo sapiens_hsa034501.40304004
42Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.38147098
43Axon guidance_Homo sapiens_hsa043601.37306538
44Hedgehog signaling pathway_Homo sapiens_hsa043401.33204804
45Nitrogen metabolism_Homo sapiens_hsa009101.32997106
46Herpes simplex infection_Homo sapiens_hsa051681.32387359
47Circadian rhythm_Homo sapiens_hsa047101.31678261
48Ovarian steroidogenesis_Homo sapiens_hsa049131.30210677
49Folate biosynthesis_Homo sapiens_hsa007901.29206683
50Ether lipid metabolism_Homo sapiens_hsa005651.29065670
51RNA degradation_Homo sapiens_hsa030181.27497723
52Hematopoietic cell lineage_Homo sapiens_hsa046401.26956637
53RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.25768928
54Serotonergic synapse_Homo sapiens_hsa047261.24009841
55Sphingolipid metabolism_Homo sapiens_hsa006001.22785998
56Dopaminergic synapse_Homo sapiens_hsa047281.21244349
57Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.20058486
58Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.18779273
59Calcium signaling pathway_Homo sapiens_hsa040201.18765187
60Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.18201813
61Cell cycle_Homo sapiens_hsa041101.18095600
62Fanconi anemia pathway_Homo sapiens_hsa034601.15270281
63Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.11809769
64p53 signaling pathway_Homo sapiens_hsa041151.10399968
65Butanoate metabolism_Homo sapiens_hsa006501.08706083
66Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.07775848
67Measles_Homo sapiens_hsa051621.05839734
68One carbon pool by folate_Homo sapiens_hsa006701.05392000
69Basal transcription factors_Homo sapiens_hsa030221.04807814
70Amphetamine addiction_Homo sapiens_hsa050311.01131225
71Other glycan degradation_Homo sapiens_hsa005111.01062921
72RNA transport_Homo sapiens_hsa030130.99784234
73Dorso-ventral axis formation_Homo sapiens_hsa043200.99085005
74Synaptic vesicle cycle_Homo sapiens_hsa047210.97094110
75Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.95864666
76Basal cell carcinoma_Homo sapiens_hsa052170.91548380
77cAMP signaling pathway_Homo sapiens_hsa040240.91289618
78B cell receptor signaling pathway_Homo sapiens_hsa046620.90578864
79Carbohydrate digestion and absorption_Homo sapiens_hsa049730.90221416
80Jak-STAT signaling pathway_Homo sapiens_hsa046300.89712351
81Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.89539088
82Salivary secretion_Homo sapiens_hsa049700.89132334
83Pentose phosphate pathway_Homo sapiens_hsa000300.87091286
84Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.86858972
85Leishmaniasis_Homo sapiens_hsa051400.86646124
86Glycerophospholipid metabolism_Homo sapiens_hsa005640.86637166
87Type II diabetes mellitus_Homo sapiens_hsa049300.85125735
88Long-term depression_Homo sapiens_hsa047300.84506747
89Systemic lupus erythematosus_Homo sapiens_hsa053220.82845164
90Vitamin digestion and absorption_Homo sapiens_hsa049770.81618597
91Antigen processing and presentation_Homo sapiens_hsa046120.80076704
92Steroid hormone biosynthesis_Homo sapiens_hsa001400.79374904
93Olfactory transduction_Homo sapiens_hsa047400.78334015
94Tryptophan metabolism_Homo sapiens_hsa003800.77792816
95Intestinal immune network for IgA production_Homo sapiens_hsa046720.77612912
96Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.77201610
97Inositol phosphate metabolism_Homo sapiens_hsa005620.77103848
98SNARE interactions in vesicular transport_Homo sapiens_hsa041300.76570535
99Primary bile acid biosynthesis_Homo sapiens_hsa001200.75701160
100Oxytocin signaling pathway_Homo sapiens_hsa049210.74213192
101Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.71905278
102mTOR signaling pathway_Homo sapiens_hsa041500.71508404
103Colorectal cancer_Homo sapiens_hsa052100.69992634
104Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.69298778
105Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.69123128
106Gastric acid secretion_Homo sapiens_hsa049710.69103931
107Bile secretion_Homo sapiens_hsa049760.67430520
108Melanogenesis_Homo sapiens_hsa049160.67346261
109Chemical carcinogenesis_Homo sapiens_hsa052040.64985567
110Hippo signaling pathway_Homo sapiens_hsa043900.64644537
111Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.62485513
112NF-kappa B signaling pathway_Homo sapiens_hsa040640.62091066
113Glycerolipid metabolism_Homo sapiens_hsa005610.61371441
114Allograft rejection_Homo sapiens_hsa053300.60879438
115Mineral absorption_Homo sapiens_hsa049780.60572481
116Caffeine metabolism_Homo sapiens_hsa002320.58956324
117Drug metabolism - other enzymes_Homo sapiens_hsa009830.57815609
118Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.57264867
119Vascular smooth muscle contraction_Homo sapiens_hsa042700.57057736
120Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.56511487
121Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.56131492
122Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.55601597
123Phosphatidylinositol signaling system_Homo sapiens_hsa040700.53813770
124Influenza A_Homo sapiens_hsa051640.53425029
125Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.53109397
126Longevity regulating pathway - mammal_Homo sapiens_hsa042110.48863080
127Epstein-Barr virus infection_Homo sapiens_hsa051690.48581283
128Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.48429762
129Legionellosis_Homo sapiens_hsa051340.48219449
130Shigellosis_Homo sapiens_hsa051310.47699789
131Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.46348593
132MAPK signaling pathway_Homo sapiens_hsa040100.45466544
133Alcoholism_Homo sapiens_hsa050340.45453945
134Cysteine and methionine metabolism_Homo sapiens_hsa002700.44844289
135Hepatitis B_Homo sapiens_hsa051610.44327799
136Platelet activation_Homo sapiens_hsa046110.43467736
137Toll-like receptor signaling pathway_Homo sapiens_hsa046200.41984392
138Histidine metabolism_Homo sapiens_hsa003400.41950172
139Ras signaling pathway_Homo sapiens_hsa040140.40402475
140Renin secretion_Homo sapiens_hsa049240.39435255
141Phospholipase D signaling pathway_Homo sapiens_hsa040720.38648050
142FoxO signaling pathway_Homo sapiens_hsa040680.38328265
143Glucagon signaling pathway_Homo sapiens_hsa049220.37537082
144Peroxisome_Homo sapiens_hsa041460.36798416
145Pertussis_Homo sapiens_hsa051330.35394338
146Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.35311756
147Choline metabolism in cancer_Homo sapiens_hsa052310.35252884
148Insulin resistance_Homo sapiens_hsa049310.35190455
149NOD-like receptor signaling pathway_Homo sapiens_hsa046210.34629799
150Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.34549363
151Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.34213285
152Retinol metabolism_Homo sapiens_hsa008300.32705737
153Metabolic pathways_Homo sapiens_hsa011000.32592625
154Cardiac muscle contraction_Homo sapiens_hsa042600.32575804
155ABC transporters_Homo sapiens_hsa020100.31982663
156Asthma_Homo sapiens_hsa053100.31022720
157Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.29865198
158Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.29285809
159Cyanoamino acid metabolism_Homo sapiens_hsa004600.28942873
160Pentose and glucuronate interconversions_Homo sapiens_hsa000400.28110171
161Viral carcinogenesis_Homo sapiens_hsa052030.26595251
162Galactose metabolism_Homo sapiens_hsa000520.26441114
163Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.24542509
164Endometrial cancer_Homo sapiens_hsa052130.23342857
165Malaria_Homo sapiens_hsa051440.22953737
166Parkinsons disease_Homo sapiens_hsa050120.22241369
167Pathways in cancer_Homo sapiens_hsa052000.21077587
168Toxoplasmosis_Homo sapiens_hsa051450.21014003
169Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.20244339
170Osteoclast differentiation_Homo sapiens_hsa043800.20168407
171HTLV-I infection_Homo sapiens_hsa051660.18564614
172Selenocompound metabolism_Homo sapiens_hsa004500.18445160
173Apoptosis_Homo sapiens_hsa042100.16329310
174Regulation of autophagy_Homo sapiens_hsa041400.15938454
175Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.15698514
176African trypanosomiasis_Homo sapiens_hsa051430.15278360
177Arachidonic acid metabolism_Homo sapiens_hsa005900.14506124
178Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.12831947
179Notch signaling pathway_Homo sapiens_hsa043300.12679909
180Aldosterone synthesis and secretion_Homo sapiens_hsa049250.12214534
181Glycosaminoglycan degradation_Homo sapiens_hsa005310.11216255
182Biosynthesis of amino acids_Homo sapiens_hsa012300.10830780

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