RUBCN

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





Description: The protein encoded by this gene is a negative regulator of autophagy and endocytic trafficking and controls endosome maturation. This protein contains two conserved domains, an N-terminal RUN domain and a C-terminal DUF4206 domain. The RUN domain is involved in Ras-like GTPase signaling, and the DUF4206 domain contains a diacylglycerol (DAG) binding-like motif. Mutation in this gene results in deletion of the DAG binding-like motif and causes a recessive ataxia. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1positive regulation of gamma-delta T cell activation (GO:0046645)4.85521800
2type I interferon signaling pathway (GO:0060337)4.66242717
3cellular response to type I interferon (GO:0071357)4.66242717
4response to type I interferon (GO:0034340)4.64222094
5locomotory exploration behavior (GO:0035641)4.55570862
6regulation of MHC class I biosynthetic process (GO:0045343)4.37175244
7regulation of B cell receptor signaling pathway (GO:0050855)4.35721549
8negative regulation of leukocyte mediated cytotoxicity (GO:0001911)4.22385878
9negative regulation of cell killing (GO:0031342)4.22385878
10antigen processing and presentation of endogenous peptide antigen (GO:0002483)4.10379304
11T cell migration (GO:0072678)4.04282401
12antigen processing and presentation of endogenous antigen (GO:0019883)4.02391710
13positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.01430955
14positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)4.01424935
15regulation of short-term neuronal synaptic plasticity (GO:0048172)3.96539509
16antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)3.93293544
17negative thymic T cell selection (GO:0045060)3.83161129
18germinal center formation (GO:0002467)3.80705869
19immunoglobulin mediated immune response (GO:0016064)3.78404349
20positive regulation of interleukin-2 biosynthetic process (GO:0045086)3.76294467
21synaptic vesicle maturation (GO:0016188)3.75190334
22negative T cell selection (GO:0043383)3.68317863
23interferon-gamma-mediated signaling pathway (GO:0060333)3.65255187
24regulation of interferon-beta biosynthetic process (GO:0045357)3.60321587
25negative regulation of T cell mediated immunity (GO:0002710)3.49552548
26central nervous system myelination (GO:0022010)3.47231565
27axon ensheathment in central nervous system (GO:0032291)3.47231565
28regulation of gamma-delta T cell activation (GO:0046643)3.46868693
29regulation of interferon-alpha production (GO:0032647)3.45526581
30macrophage activation involved in immune response (GO:0002281)3.44723952
31regulation of dendritic cell antigen processing and presentation (GO:0002604)3.43407773
32positive regulation by symbiont of host defense response (GO:0052509)3.39585492
33modulation by symbiont of host defense response (GO:0052031)3.39585492
34modulation by organism of immune response of other organism involved in symbiotic interaction (GO:003.39585492
35modulation by organism of defense response of other organism involved in symbiotic interaction (GO:03.39585492
36positive regulation by organism of defense response of other organism involved in symbiotic interact3.39585492
37modulation by symbiont of host immune response (GO:0052553)3.39585492
38defense response to protozoan (GO:0042832)3.39448748
39CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)3.34507356
40regulation of ARF protein signal transduction (GO:0032012)3.34492425
41positive regulation of defense response to virus by host (GO:0002230)3.33747398
42layer formation in cerebral cortex (GO:0021819)3.32177294
43antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.32159305
44NIK/NF-kappaB signaling (GO:0038061)3.32052112
45positive regulation of interferon-alpha production (GO:0032727)3.30651587
46sodium ion export (GO:0071436)3.29643386
47positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.28210142
48cellular response to interleukin-15 (GO:0071350)3.27153898
49regulation of T-helper 1 cell differentiation (GO:0045625)3.26428992
50cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.22664757
51regulation of synapse structural plasticity (GO:0051823)3.19962761
52cell communication by electrical coupling (GO:0010644)3.17832708
53thymic T cell selection (GO:0045061)3.17554259
54T cell selection (GO:0045058)3.16425207
55response to interleukin-15 (GO:0070672)3.16092792
56response to protozoan (GO:0001562)3.13984715
57negative regulation of viral genome replication (GO:0045071)3.13319758
58vocalization behavior (GO:0071625)3.12772015
59activation of protein kinase A activity (GO:0034199)3.12140001
60negative regulation of interleukin-12 production (GO:0032695)3.10773713
61regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)3.10589564
62positive regulation of type 2 immune response (GO:0002830)3.09035996
63cellular extravasation (GO:0045123)3.08577123
64negative regulation of potassium ion transmembrane transport (GO:1901380)3.08459919
65positive thymic T cell selection (GO:0045059)3.08411259
66B cell homeostasis (GO:0001782)3.06761966
67regulation of type I interferon-mediated signaling pathway (GO:0060338)3.06603544
68cellular response to exogenous dsRNA (GO:0071360)3.04861068
69B cell proliferation (GO:0042100)3.03578536
70regulation of antigen processing and presentation (GO:0002577)3.02886524
71positive regulation of antigen processing and presentation (GO:0002579)3.02053626
72natural killer cell activation involved in immune response (GO:0002323)2.99939121
73membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.98143167
74regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)2.97263603
75positive T cell selection (GO:0043368)2.94725562
76B cell mediated immunity (GO:0019724)2.91805345
77epithelial cell fate commitment (GO:0072148)2.90555581
78synaptic vesicle exocytosis (GO:0016079)2.90093912
79interferon-gamma production (GO:0032609)2.90048158
80regulation of T-helper cell differentiation (GO:0045622)2.89334099
81negative regulation of lymphocyte mediated immunity (GO:0002707)2.88365236
82activated T cell proliferation (GO:0050798)2.87300268
83potassium ion import (GO:0010107)2.87218879
84exploration behavior (GO:0035640)2.86743742
85regulation of antigen receptor-mediated signaling pathway (GO:0050854)2.85961157
86lung epithelium development (GO:0060428)2.85877660
87regulation of synaptic vesicle exocytosis (GO:2000300)2.84951374
88regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act2.83769087
89positive regulation of B cell differentiation (GO:0045579)2.83616236
90positive regulation of Rap GTPase activity (GO:0032854)2.83456929
91lens fiber cell development (GO:0070307)2.82722251
92cytoskeletal anchoring at plasma membrane (GO:0007016)2.81924389
93response to muramyl dipeptide (GO:0032495)2.81879852
94regulation of T cell tolerance induction (GO:0002664)2.80947530
95membrane depolarization during action potential (GO:0086010)2.79807558
96positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)2.79321617
97regulation of germinal center formation (GO:0002634)2.78349507
98negative regulation of bone resorption (GO:0045779)2.77795723
99establishment of nucleus localization (GO:0040023)2.77751372
100regulation of gamma-delta T cell differentiation (GO:0045586)2.77751361
101synaptic vesicle docking involved in exocytosis (GO:0016081)2.77620480
102regulation of CD4-positive, alpha-beta T cell activation (GO:2000514)2.77487080
103regulation of alpha-beta T cell proliferation (GO:0046640)2.76728521
104glutamate secretion (GO:0014047)2.76346459
105regulation of defense response to virus by host (GO:0050691)2.76083657
106positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.76010738
107regulation of B cell differentiation (GO:0045577)2.75323318
108antigen receptor-mediated signaling pathway (GO:0050851)2.74681859
109positive regulation of synapse maturation (GO:0090129)2.74679809
110cellular potassium ion homeostasis (GO:0030007)2.73685861
111regulation of type 2 immune response (GO:0002828)2.73042426
112negative regulation of leukocyte mediated immunity (GO:0002704)2.72627280
113negative regulation of potassium ion transmembrane transporter activity (GO:1901017)2.72097035
114regulation of interleukin-12 biosynthetic process (GO:0045075)2.71156839
115detection of bacterium (GO:0016045)2.69259568
116negative regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043371)2.68433597
117negative regulation of T-helper cell differentiation (GO:0045623)2.68433597
118nerve growth factor signaling pathway (GO:0038180)2.68343255
119cellular response to interferon-gamma (GO:0071346)2.67997662
120detection of other organism (GO:0098543)2.66744404
121myeloid cell activation involved in immune response (GO:0002275)2.64937698
122granulocyte activation (GO:0036230)2.64763974
123regulation of Rap GTPase activity (GO:0032317)2.64609924
124regulation of glutamate receptor signaling pathway (GO:1900449)2.63873448
125regulation of B cell proliferation (GO:0030888)2.63778183
126regulation of interleukin-12 production (GO:0032655)2.63753099
127glycine transport (GO:0015816)2.63101906
128positive regulation of interleukin-2 production (GO:0032743)2.63089523
129negative regulation of type 2 immune response (GO:0002829)2.62310354
130cell communication involved in cardiac conduction (GO:0086065)2.61172481
131negative regulation of cytokine production involved in immune response (GO:0002719)2.60868941
132neutrophil activation (GO:0042119)2.60682836
133positive regulation of B cell proliferation (GO:0030890)2.60541571
134positive regulation of interleukin-12 production (GO:0032735)2.60500713
135regulation of ARF GTPase activity (GO:0032312)2.60434897
136response to pheromone (GO:0019236)2.60242736
137response to peptidoglycan (GO:0032494)2.59059253
138regulation of synaptic vesicle transport (GO:1902803)2.58977067
139response to immune response of other organism involved in symbiotic interaction (GO:0052564)2.58169189
140response to host immune response (GO:0052572)2.58169189
141regulation of membrane repolarization (GO:0060306)2.57795522
142cellular response to interferon-beta (GO:0035458)2.57598277
143positive regulation of mast cell activation (GO:0033005)2.57461845
144positive regulation of interferon-beta production (GO:0032728)2.57443283
145dendrite morphogenesis (GO:0048813)2.54163573
146negative regulation of organelle assembly (GO:1902116)2.53626978
147plasma membrane repair (GO:0001778)2.53557113
148negative regulation of inclusion body assembly (GO:0090084)2.52634969
149regulation of dendritic spine morphogenesis (GO:0061001)2.52153470
150gamma-aminobutyric acid transport (GO:0015812)2.49122388
151prepulse inhibition (GO:0060134)2.48063563
152negative regulation of amyloid precursor protein catabolic process (GO:1902992)2.46779758
153dendritic spine morphogenesis (GO:0060997)2.46157078
154protein localization to endosome (GO:0036010)2.44019473
155regulation of neuronal synaptic plasticity (GO:0048168)2.43884591
156neuron cell-cell adhesion (GO:0007158)2.43764950
157neurotransmitter secretion (GO:0007269)2.42549196
158barbed-end actin filament capping (GO:0051016)2.39335450
159cerebellar Purkinje cell differentiation (GO:0021702)2.38913731
160positive regulation of potassium ion transmembrane transport (GO:1901381)2.38872763
161regulation of calcium ion-dependent exocytosis (GO:0017158)2.34290765
162neuromuscular process controlling balance (GO:0050885)2.34279418
163ionotropic glutamate receptor signaling pathway (GO:0035235)2.34099877
164stress granule assembly (GO:0034063)2.32455791
165positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.31129792
166neuronal ion channel clustering (GO:0045161)2.29731388
167vesicle transport along microtubule (GO:0047496)2.29569267
168B cell receptor signaling pathway (GO:0050853)2.26283344
169cytoplasmic mRNA processing body assembly (GO:0033962)2.26133121
170venous blood vessel morphogenesis (GO:0048845)2.25238220
171piRNA metabolic process (GO:0034587)2.24996731
172negative regulation of synaptic transmission, GABAergic (GO:0032229)2.24932133
173regulation of excitatory postsynaptic membrane potential (GO:0060079)2.23426692
174neurotransmitter-gated ion channel clustering (GO:0072578)2.23396121
175coronary vasculature morphogenesis (GO:0060977)2.22305533
176regulation of calcium ion transmembrane transporter activity (GO:1901019)2.21544856
177regulation of calcium ion transmembrane transport (GO:1903169)2.21544856
178regulation of long-term neuronal synaptic plasticity (GO:0048169)2.19891650
179positive regulation of calcium ion transmembrane transporter activity (GO:1901021)2.18477324
180negative regulation of cell size (GO:0045792)2.17567986
181regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO2.17547095
182membrane depolarization (GO:0051899)2.17318070
183peptidyl-threonine phosphorylation (GO:0018107)2.17029533
184protein localization to synapse (GO:0035418)2.15560994
185transmission of nerve impulse (GO:0019226)2.14724628
186positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.14361729
187regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.13805992
188peptidyl-tyrosine autophosphorylation (GO:0038083)2.13492785
189membrane repolarization (GO:0086009)2.13376221
190membrane tubulation (GO:0097320)2.13202303
191G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.12494971
192positive regulation of potassium ion transport (GO:0043268)2.12338993
193long-term memory (GO:0007616)2.12298989
194regulation of synapse maturation (GO:0090128)2.12298166
195cardiac myofibril assembly (GO:0055003)2.12130574
196organelle transport along microtubule (GO:0072384)2.11911842
197lens morphogenesis in camera-type eye (GO:0002089)2.11645395
198regulation of dendritic spine development (GO:0060998)2.11563372
199regulation of synaptic transmission, glutamatergic (GO:0051966)2.11226998

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_22096565_ChIP-ChIP_GC-B_Human7.05776901
2EZH2_22144423_ChIP-Seq_EOC_Human5.27733781
3STAT6_20620947_ChIP-Seq_CD4_POS_T_Human4.97233049
4FOXP3_17237761_ChIP-ChIP_TREG_Mouse4.28130426
5IRF8_21731497_ChIP-ChIP_J774_Mouse4.09520955
6IRF1_21803131_ChIP-Seq_MONOCYTES_Human4.08250149
7IRF8_22096565_ChIP-ChIP_GC-B_Mouse3.89202438
8RUNX_20019798_ChIP-Seq_JUKART_Human3.05365264
9MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.83007715
10IRF8_27001747_Chip-Seq_BMDM_Mouse2.81375486
11SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.44192992
12MYB_26560356_Chip-Seq_TH2_Human2.37206705
13DROSHA_22980978_ChIP-Seq_HELA_Human2.37107030
14EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.31279798
15STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.24797935
16SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.21546671
17FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse2.13073047
18SCL_19346495_ChIP-Seq_HPC-7_Human2.09678736
19ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.08322786
20SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.06399025
21RARB_27405468_Chip-Seq_BRAIN_Mouse2.04364524
22RNF2_18974828_ChIP-Seq_MESCs_Mouse2.00992232
23EZH2_18974828_ChIP-Seq_MESCs_Mouse2.00992232
24STAT4_19710469_ChIP-ChIP_TH1__Mouse1.99293432
25NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.93882339
26SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.93190365
27RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.92889101
28MTF2_20144788_ChIP-Seq_MESCs_Mouse1.92477045
29SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.91018710
30GATA3_27048872_Chip-Seq_THYMUS_Human1.89753671
31MYC_22102868_ChIP-Seq_BL_Human1.87155634
32MYB_26560356_Chip-Seq_TH1_Human1.85060854
33BP1_19119308_ChIP-ChIP_Hs578T_Human1.82559869
34LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.79962299
35JARID2_20064375_ChIP-Seq_MESCs_Mouse1.76266498
36VDR_24787735_ChIP-Seq_THP-1_Human1.73718922
37SUZ12_27294783_Chip-Seq_ESCs_Mouse1.70800443
38IKZF1_21737484_ChIP-ChIP_HCT116_Human1.70711019
39EZH2_27294783_Chip-Seq_ESCs_Mouse1.70315583
40RNF2_27304074_Chip-Seq_ESCs_Mouse1.68381447
41MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.67561043
42VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.66613380
43MAF_26560356_Chip-Seq_TH1_Human1.64915426
44GATA3_26560356_Chip-Seq_TH2_Human1.63945772
45REST_21632747_ChIP-Seq_MESCs_Mouse1.62966651
46SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.61655209
47KDM2B_26808549_Chip-Seq_SUP-B15_Human1.60549024
48SPI1_23547873_ChIP-Seq_NB4_Human1.60391449
49SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.58153318
50KDM2B_26808549_Chip-Seq_K562_Human1.57887379
51MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.57276853
52NOTCH1_21737748_ChIP-Seq_TLL_Human1.54590052
53JARID2_20075857_ChIP-Seq_MESCs_Mouse1.49795691
54RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.48750483
55SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.48296134
56GATA1_22025678_ChIP-Seq_K562_Human1.47748959
57MYB_21317192_ChIP-Seq_ERMYB_Mouse1.45212072
58GBX2_23144817_ChIP-Seq_PC3_Human1.44973665
59UTX_26944678_Chip-Seq_JUKART_Human1.44113355
60SMAD_19615063_ChIP-ChIP_OVARY_Human1.44021338
61EZH2_27304074_Chip-Seq_ESCs_Mouse1.40099428
62CIITA_25753668_ChIP-Seq_RAJI_Human1.40009589
63WT1_25993318_ChIP-Seq_PODOCYTE_Human1.39122120
64AR_21572438_ChIP-Seq_LNCaP_Human1.38745477
65GATA1_19941827_ChIP-Seq_MEL_Mouse1.36628935
66GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.36568393
67PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.36051923
68LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.35439302
69TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.35001664
70EP300_21415370_ChIP-Seq_HL-1_Mouse1.33474991
71BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.33347637
72Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.33248834
73WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.32006395
74VDR_24763502_ChIP-Seq_THP-1_Human1.30268172
75EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.29066579
76REST_18959480_ChIP-ChIP_MESCs_Mouse1.28597386
77SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.28543760
78KDM2B_26808549_Chip-Seq_DND41_Human1.26868243
79RUNX1_22412390_ChIP-Seq_EML_Mouse1.25873525
80SMRT_27268052_Chip-Seq_Bcells_Human1.24598895
81PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.20270188
82MAF_26560356_Chip-Seq_TH2_Human1.20127130
83EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.19394232
84NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.17322963
85STAT6_21828071_ChIP-Seq_BEAS2B_Human1.14203930
86VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.13795857
87EED_16625203_ChIP-ChIP_MESCs_Mouse1.13778920
88DNAJC2_21179169_ChIP-ChIP_NT2_Human1.13725016
89GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.13645383
90TBX20_22328084_ChIP-Seq_HEART_Mouse1.12874090
91TBX20_22080862_ChIP-Seq_HEART_Mouse1.12874090
92SOX2_21211035_ChIP-Seq_LN229_Gbm1.12861675
93DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.12660796
94GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.12369527
95SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.10057978
96ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.08815613
97AHR_22903824_ChIP-Seq_MCF-7_Human1.07014166
98TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.06760832
99KDM2B_26808549_Chip-Seq_JURKAT_Human1.06513509
100GATA2_21666600_ChIP-Seq_HMVEC_Human1.06180024
101AR_19668381_ChIP-Seq_PC3_Human1.05335733
102ZNF274_21170338_ChIP-Seq_K562_Hela1.03311115
103ARNT_22903824_ChIP-Seq_MCF-7_Human1.03212847
104NR3C1_23031785_ChIP-Seq_PC12_Mouse1.02629821
105PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.02064343
106TET1_21490601_ChIP-Seq_MESCs_Mouse1.02008625
107ZNF217_24962896_ChIP-Seq_MCF-7_Human1.01847301
108RING1B_27294783_Chip-Seq_ESCs_Mouse1.01702267
109SMAD4_21799915_ChIP-Seq_A2780_Human1.01496809
110TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.01471589
111CDX2_19796622_ChIP-Seq_MESCs_Mouse1.01174513
112RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.00976251
113MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.00809359
114ELK4_26923725_Chip-Seq_MESODERM_Mouse1.00365046
115KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.00120982
116ZFP281_27345836_Chip-Seq_ESCs_Mouse0.99443026
117RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.98508002
118ESR1_20079471_ChIP-ChIP_T-47D_Human0.98341587
119CTNNB1_20460455_ChIP-Seq_HCT116_Human0.97809148
120TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.97383047
121STAT3_23295773_ChIP-Seq_U87_Human0.96826894
122ZFP281_18757296_ChIP-ChIP_E14_Mouse0.95909354
123PRDM14_20953172_ChIP-Seq_ESCs_Human0.95463600
124SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.95330911
125EGR1_19374776_ChIP-ChIP_THP-1_Human0.94727348
126VDR_21846776_ChIP-Seq_THP-1_Human0.94073121
127FOXA2_19822575_ChIP-Seq_HepG2_Human0.93954658
128LXR_22292898_ChIP-Seq_THP-1_Human0.93934501
129GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.93553678
130E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human0.93475678
131RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.92858884
132PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.92119834
133KLF4_19829295_ChIP-Seq_ESCs_Human0.90807899
134THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.90657676
135SMAD3_21741376_ChIP-Seq_ESCs_Human0.90213749
136ESR2_21235772_ChIP-Seq_MCF-7_Human0.89830639
137TCF4_23295773_ChIP-Seq_U87_Human0.88981922
138GATA2_22383799_ChIP-Seq_G1ME_Mouse0.88831926
139SMC4_20622854_ChIP-Seq_HELA_Human0.88581559
140TCF7_22412390_ChIP-Seq_EML_Mouse0.88452386
141PU_27001747_Chip-Seq_BMDM_Mouse0.88355900
142SPI1_23127762_ChIP-Seq_K562_Human0.86984694
143AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.85023166
144NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.85016607
145SMAD3_21741376_ChIP-Seq_HESCs_Human0.84980595
146FOXO3_23340844_ChIP-Seq_DLD1_Human0.83673303
147SMAD4_21741376_ChIP-Seq_HESCs_Human0.83236620
148GATA3_26560356_Chip-Seq_TH1_Human0.83220621
149SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.82212481
150BRD4_27068464_Chip-Seq_AML-cells_Mouse0.81468141
151FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.81273495
152KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.81064058
153CTCF_27219007_Chip-Seq_Bcells_Human0.80648930
154RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human0.80488774
155CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse0.80463823
156P53_22127205_ChIP-Seq_FIBROBLAST_Human0.80295942
157CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons0.79045150
158NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.78737541
159TP53_16413492_ChIP-PET_HCT116_Human0.77493300
160TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse0.77018668
161GATA1_19941826_ChIP-Seq_K562_Human0.76657816
162ER_23166858_ChIP-Seq_MCF-7_Human0.76162495
163CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.74772478
164PU.1_20513432_ChIP-Seq_Bcells_Mouse0.73644087
165EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.71371638
166TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.70564310
167POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.70564310
168SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.70528205
169ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.68662679
170TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human0.66762551
171GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.66599152
172BCL6_27268052_Chip-Seq_Bcells_Human0.66500720

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.04619114
2MP0009780_abnormal_chondrocyte_physiolo4.86097765
3MP0003880_abnormal_central_pattern4.39354317
4MP0005423_abnormal_somatic_nervous4.24248710
5MP0001835_abnormal_antigen_presentation3.95121771
6MP0005671_abnormal_response_to3.42925702
7MP0001800_abnormal_humoral_immune3.25124248
8MP0005387_immune_system_phenotype3.14375719
9MP0000685_abnormal_immune_system3.12398884
10MP0005000_abnormal_immune_tolerance2.99561327
11MP0004270_analgesia2.84570597
12MP0003635_abnormal_synaptic_transmissio2.80036583
13MP0000569_abnormal_digit_pigmentation2.77794836
14MP0003436_decreased_susceptibility_to2.73094050
15MP0003724_increased_susceptibility_to2.72330872
16MP0003763_abnormal_thymus_physiology2.70422971
17MP0002148_abnormal_hypersensitivity_rea2.67321502
18MP0002723_abnormal_immune_serum2.65377924
19MP0009785_altered_susceptibility_to2.62987752
20MP0002452_abnormal_antigen_presenting2.57584985
21MP0000751_myopathy2.44592668
22MP0002420_abnormal_adaptive_immunity2.41636564
23MP0004510_myositis2.39708232
24MP0005310_abnormal_salivary_gland2.37654769
25MP0001819_abnormal_immune_cell2.37403564
26MP0005025_abnormal_response_to2.35573584
27MP0006082_CNS_inflammation2.17168325
28MP0005410_abnormal_fertilization2.16950825
29MP0002909_abnormal_adrenal_gland2.15786685
30MP0003329_amyloid_beta_deposits2.09980943
31MP0003646_muscle_fatigue2.07550915
32MP0002063_abnormal_learning/memory/cond2.05316022
33MP0002419_abnormal_innate_immunity2.02048995
34MP0000566_synostosis1.99695233
35MP0009745_abnormal_behavioral_response1.99041489
36MP0002398_abnormal_bone_marrow1.98818509
37MP0000716_abnormal_immune_system1.93635922
38MP0008569_lethality_at_weaning1.87554297
39MP0008961_abnormal_basal_metabolism1.87196606
40MP0002064_seizures1.83994063
41MP0002837_dystrophic_cardiac_calcinosis1.82935523
42MP0009046_muscle_twitch1.67807077
43MP0000689_abnormal_spleen_morphology1.62144507
44MP0004858_abnormal_nervous_system1.60559536
45MP0003183_abnormal_peptide_metabolism1.59070597
46MP0001486_abnormal_startle_reflex1.58698791
47MP0002572_abnormal_emotion/affect_behav1.57371073
48MP0001958_emphysema1.56707380
49MP0005623_abnormal_meninges_morphology1.54949610
50MP0010155_abnormal_intestine_physiology1.54404336
51MP0004233_abnormal_muscle_weight1.53407500
52MP0000015_abnormal_ear_pigmentation1.52813667
53MP0001845_abnormal_inflammatory_respons1.51907628
54MP0002405_respiratory_system_inflammati1.51490702
55MP0002822_catalepsy1.50405256
56MP0003303_peritoneal_inflammation1.50349696
57MP0004036_abnormal_muscle_relaxation1.50324939
58MP0004145_abnormal_muscle_electrophysio1.45346664
59MP0000778_abnormal_nervous_system1.44992578
60MP0004947_skin_inflammation1.44791811
61MP0000703_abnormal_thymus_morphology1.43977997
62MP0002734_abnormal_mechanical_nocicepti1.43709097
63MP0002272_abnormal_nervous_system1.43301271
64MP0001986_abnormal_taste_sensitivity1.43288184
65MP0002429_abnormal_blood_cell1.42157699
66MP0002722_abnormal_immune_system1.42037333
67MP0005075_abnormal_melanosome_morpholog1.36773286
68MP0004811_abnormal_neuron_physiology1.36613775
69MP0001440_abnormal_grooming_behavior1.34428492
70MP0000955_abnormal_spinal_cord1.34291203
71MP0005464_abnormal_platelet_physiology1.33895567
72MP0000747_muscle_weakness1.33708853
73MP0004087_abnormal_muscle_fiber1.33593430
74MP0000013_abnormal_adipose_tissue1.33501113
75MP0009278_abnormal_bone_marrow1.32965011
76MP0004130_abnormal_muscle_cell1.31106323
77MP0001968_abnormal_touch/_nociception1.30787304
78MP0000003_abnormal_adipose_tissue1.30698506
79MP0004084_abnormal_cardiac_muscle1.30451431
80MP0003787_abnormal_imprinting1.26826155
81MP0000749_muscle_degeneration1.26667223
82MP0003045_fibrosis1.24909897
83MP0009764_decreased_sensitivity_to1.22159216
84MP0003091_abnormal_cell_migration1.21669815
85MP0005386_behavior/neurological_phenoty1.21239164
86MP0004924_abnormal_behavior1.21239164
87MP0003866_abnormal_defecation1.20777331
88MP0001873_stomach_inflammation1.20211673
89MP0001533_abnormal_skeleton_physiology1.19280504
90MP0004381_abnormal_hair_follicle1.18968792
91MP0001348_abnormal_lacrimal_gland1.17603108
92MP0002138_abnormal_hepatobiliary_system1.17473374
93MP0002332_abnormal_exercise_endurance1.17200954
94MP0000604_amyloidosis1.15344751
95MP0002067_abnormal_sensory_capabilities1.15319251
96MP0003634_abnormal_glial_cell1.14213427
97MP0002269_muscular_atrophy1.09443845
98MP0009333_abnormal_splenocyte_physiolog1.08172715
99MP0001299_abnormal_eye_distance/1.07172166
100MP0008469_abnormal_protein_level1.06387974
101MP0001501_abnormal_sleep_pattern1.05784880
102MP0002184_abnormal_innervation1.05557360
103MP0000920_abnormal_myelination1.05399678
104MP0002557_abnormal_social/conspecific_i1.03103919
105MP0001502_abnormal_circadian_rhythm1.01752011
106MP0005645_abnormal_hypothalamus_physiol1.01750076
107MP0002733_abnormal_thermal_nociception1.01707656
108MP0002882_abnormal_neuron_morphology1.01230127
109MP0003283_abnormal_digestive_organ1.00413401
110MP0005174_abnormal_tail_pigmentation0.99702107
111MP0004215_abnormal_myocardial_fiber0.99384392
112MP0005646_abnormal_pituitary_gland0.99248788
113MP0005257_abnormal_intraocular_pressure0.98700676
114MP0003633_abnormal_nervous_system0.98571608
115MP0002166_altered_tumor_susceptibility0.98271572
116MP0002163_abnormal_gland_morphology0.97838134
117MP0003137_abnormal_impulse_conducting0.97326093
118MP0002066_abnormal_motor_capabilities/c0.97106254
119MP0008874_decreased_physiological_sensi0.96513593
120MP0004885_abnormal_endolymph0.94817001
121MP0004085_abnormal_heartbeat0.94519313
122MP0001853_heart_inflammation0.94031834
123MP0003690_abnormal_glial_cell0.94006126
124MP0001970_abnormal_pain_threshold0.93551373
125MP0002089_abnormal_postnatal_growth/wei0.91661381
126MP0002736_abnormal_nociception_after0.90951541
127MP0006276_abnormal_autonomic_nervous0.88786846
128MP0003631_nervous_system_phenotype0.88628179
129MP0005620_abnormal_muscle_contractility0.87995436
130MP0000372_irregular_coat_pigmentation0.87728814
131MP0002234_abnormal_pharynx_morphology0.87692796
132MP0005330_cardiomyopathy0.85165132
133MP0003300_gastrointestinal_ulcer0.84995656
134MP0002735_abnormal_chemical_nociception0.84939021
135MP0002693_abnormal_pancreas_physiology0.83291292
136MP0002106_abnormal_muscle_physiology0.82601610
137MP0003879_abnormal_hair_cell0.82386023
138MP0003172_abnormal_lysosome_physiology0.82248781
139MP0000759_abnormal_skeletal_muscle0.82218238
140MP0002152_abnormal_brain_morphology0.82004326
141MP0001545_abnormal_hematopoietic_system0.81824365
142MP0005397_hematopoietic_system_phenotyp0.81824365
143MP0004808_abnormal_hematopoietic_stem0.81354278
144MP0005375_adipose_tissue_phenotype0.80299437
145MP0003075_altered_response_to0.77587569
146MP0003698_abnormal_male_reproductive0.77461938
147MP0003632_abnormal_nervous_system0.75755983
148MP0001984_abnormal_olfaction0.74194870
149MP0002972_abnormal_cardiac_muscle0.72767610
150MP0004134_abnormal_chest_morphology0.72138946
151MP0008877_abnormal_DNA_methylation0.71691060
152MP0000733_abnormal_muscle_development0.71634765
153MP0000371_diluted_coat_color0.70510018
154MP0000465_gastrointestinal_hemorrhage0.70410740
155MP0009765_abnormal_xenobiotic_induced0.70128118
156MP0005379_endocrine/exocrine_gland_phen0.69828706
157MP0010630_abnormal_cardiac_muscle0.69537793
158MP0002229_neurodegeneration0.69401729
159MP0001790_abnormal_immune_system0.68341339
160MP0004142_abnormal_muscle_tone0.66584851
161MP0005451_abnormal_body_composition0.65729013
162MP0005167_abnormal_blood-brain_barrier0.62874803
163MP0002006_tumorigenesis0.61071795
164MP0002998_abnormal_bone_remodeling0.60630899
165MP0008057_abnormal_DNA_replication0.58294718
166MP0004742_abnormal_vestibular_system0.58024487
167MP0009763_increased_sensitivity_to0.57015448
168MP0001663_abnormal_digestive_system0.56767697

Predicted human phenotypes

RankGene SetZ-score
1Abnormal delayed hypersensitivity skin test (HP:0002963)4.13797657
2Stomatitis (HP:0010280)4.07036939
3Panhypogammaglobulinemia (HP:0003139)4.03028621
4Recurrent fungal infections (HP:0002841)3.79628936
5Recurrent viral infections (HP:0004429)3.79179920
6Retrobulbar optic neuritis (HP:0100654)3.78630862
7Optic neuritis (HP:0100653)3.78630862
8Recurrent cutaneous fungal infections (HP:0011370)3.71448827
9Chronic mucocutaneous candidiasis (HP:0002728)3.71448827
10Myokymia (HP:0002411)3.66138086
11Meningitis (HP:0001287)3.63699467
12Mediastinal lymphadenopathy (HP:0100721)3.61763428
13Recurrent bacterial skin infections (HP:0005406)3.53609561
14T lymphocytopenia (HP:0005403)3.53151311
15Abnormality of T cell number (HP:0011839)3.46241722
16Vasculitis (HP:0002633)3.40667376
17Megalencephaly (HP:0001355)3.30626697
18Orchitis (HP:0100796)3.29223698
19Aplasia involving bones of the extremities (HP:0009825)3.28800950
20Aplasia involving bones of the upper limbs (HP:0009823)3.28800950
21Aplasia of the phalanges of the hand (HP:0009802)3.28800950
22Myositis (HP:0100614)3.27562480
23Recurrent abscess formation (HP:0002722)3.21543562
24Supranuclear gaze palsy (HP:0000605)3.16735117
25Pulmonary infiltrates (HP:0002113)3.05863769
26Abnormality of macrophages (HP:0004311)3.02584654
27Ankle clonus (HP:0011448)3.02198387
28Recurrent bronchitis (HP:0002837)3.00753291
29Autoimmune hemolytic anemia (HP:0001890)2.99406592
30Encephalitis (HP:0002383)2.99142165
31IgG deficiency (HP:0004315)2.89781778
32Heterotopia (HP:0002282)2.87425963
33Bundle branch block (HP:0011710)2.86644275
34Eczematoid dermatitis (HP:0000976)2.86587000
35Abnormality of B cell number (HP:0010975)2.84690433
36Focal motor seizures (HP:0011153)2.82730456
37Abnormality of T cells (HP:0002843)2.82454334
38Lymphopenia (HP:0001888)2.82014901
39Hyporeflexia of lower limbs (HP:0002600)2.80840710
40Focal seizures (HP:0007359)2.78382834
41Postural instability (HP:0002172)2.76773682
42Recurrent skin infections (HP:0001581)2.73857225
43Exercise-induced myalgia (HP:0003738)2.73684147
44Neurofibrillary tangles (HP:0002185)2.73168941
45Agammaglobulinemia (HP:0004432)2.73086329
46Hyperventilation (HP:0002883)2.71968085
47Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)2.71313753
48Sudden death (HP:0001699)2.67419495
49B lymphocytopenia (HP:0010976)2.66348799
50Inflammation of the large intestine (HP:0002037)2.63701223
51Gastrointestinal stroma tumor (HP:0100723)2.62905685
52Keratoconjunctivitis (HP:0001096)2.60385758
53Severe combined immunodeficiency (HP:0004430)2.58935757
54Abnormality of cells of the lymphoid lineage (HP:0012140)2.56912750
55Gastrointestinal infarctions (HP:0005244)2.56092402
56Urinary urgency (HP:0000012)2.55760861
57Elevated erythrocyte sedimentation rate (HP:0003565)2.54948929
58Action tremor (HP:0002345)2.50816335
59Keratoconjunctivitis sicca (HP:0001097)2.48454526
60Gastrointestinal inflammation (HP:0004386)2.48119363
61Mutism (HP:0002300)2.47833832
62Difficulty running (HP:0009046)2.47045096
63Thickened helices (HP:0000391)2.44404262
64Increased IgE level (HP:0003212)2.43419579
65Cerebral inclusion bodies (HP:0100314)2.41922478
66Eosinophilia (HP:0001880)2.41425779
67Hemoptysis (HP:0002105)2.40177780
68Diplopia (HP:0000651)2.38144821
69Abnormality of binocular vision (HP:0011514)2.38144821
70Autoimmune thrombocytopenia (HP:0001973)2.36169634
71Visual hallucinations (HP:0002367)2.36062171
72Urinary bladder sphincter dysfunction (HP:0002839)2.35967590
73Increased IgM level (HP:0003496)2.35783299
74Chest pain (HP:0100749)2.35768666
75Abnormality of T cell physiology (HP:0011840)2.33580533
76Abnormality of eosinophils (HP:0001879)2.33114983
77Recurrent sinusitis (HP:0011108)2.30991196
78IgA deficiency (HP:0002720)2.30778247
79Thyroiditis (HP:0100646)2.30147006
80Colitis (HP:0002583)2.29991268
81Pustule (HP:0200039)2.27183114
82Granulocytopenia (HP:0001913)2.25824328
83Leukocytosis (HP:0001974)2.24446918
84Neonatal short-limb short stature (HP:0008921)2.23155571
85Upper limb amyotrophy (HP:0009129)2.23025037
86Distal upper limb amyotrophy (HP:0007149)2.23025037
87Hyperacusis (HP:0010780)2.20875213
88Dysmetric saccades (HP:0000641)2.20548629
89Papilledema (HP:0001085)2.19767101
90Recurrent otitis media (HP:0000403)2.17532204
91Atrial fibrillation (HP:0005110)2.15426149
92Febrile seizures (HP:0002373)2.15302815
93Chronic otitis media (HP:0000389)2.13678531
94Absent speech (HP:0001344)2.13590598
95Sepsis (HP:0100806)2.13195082
96Dynein arm defect of respiratory motile cilia (HP:0012255)2.13085480
97Absent/shortened dynein arms (HP:0200106)2.13085480
98Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.12683385
99Asymmetric septal hypertrophy (HP:0001670)2.12670276
100Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.12341211
101Obstructive lung disease (HP:0006536)2.12251528
102Chronic obstructive pulmonary disease (HP:0006510)2.12251528
103Abnormality of the lower motor neuron (HP:0002366)2.11916414
104Increased cerebral lipofuscin (HP:0011813)2.11119569
105Hematochezia (HP:0002573)2.11069436
106Stomach cancer (HP:0012126)2.09050793
107Dysmetria (HP:0001310)2.09024631
108Alacrima (HP:0000522)2.07955369
109Ventricular fibrillation (HP:0001663)2.07725106
110Genetic anticipation (HP:0003743)2.07566057
111Depression (HP:0000716)2.07537509
112Spastic gait (HP:0002064)2.07535084
113Prolonged QT interval (HP:0001657)2.07162122
114Atonic seizures (HP:0010819)2.06700604
115Primary atrial arrhythmia (HP:0001692)2.06591857
116Urticaria (HP:0001025)2.05971095
117Progressive cerebellar ataxia (HP:0002073)2.05603004
118Polyneuropathy (HP:0001271)2.05068437
119Lower limb amyotrophy (HP:0007210)2.04795787
120Dysdiadochokinesis (HP:0002075)2.04611133
121Albinism (HP:0001022)2.04515469
122Abnormality of the pleura (HP:0002103)2.03820186
123Lower limb muscle weakness (HP:0007340)2.03193552
124Impaired vibration sensation in the lower limbs (HP:0002166)2.02777263
125Chronic diarrhea (HP:0002028)2.02663166
126Cellulitis (HP:0100658)2.01947917
127Combined immunodeficiency (HP:0005387)2.00598732
128Hemiplegia (HP:0002301)2.00263051
129Vertebral arch anomaly (HP:0008438)2.00255912
130Spontaneous hematomas (HP:0007420)1.99485366
131Clonus (HP:0002169)1.98957791
132Progressive inability to walk (HP:0002505)1.98660742
133Termporal pattern (HP:0011008)1.98286943
134Insidious onset (HP:0003587)1.98286943
135Parkinsonism with favorable response to dopaminergic medication (HP:0002548)1.97218418
136IgM deficiency (HP:0002850)1.97214695
137Cortical dysplasia (HP:0002539)1.97180761
138Muscle fiber splitting (HP:0003555)1.96738400
139Restrictive lung disease (HP:0002091)1.96457796
140Abnormality of liposaccharide metabolism (HP:0010968)1.96003692
141Abnormality of glycosphingolipid metabolism (HP:0004343)1.96003692
142Abnormality of glycolipid metabolism (HP:0010969)1.96003692
143Abnormality of the epiphyses of the phalanges of the hand (HP:0005920)1.95927512
144Abnormality of the prostate (HP:0008775)1.95822940
145Amyotrophic lateral sclerosis (HP:0007354)1.95632295
146Increased neuronal autofluorescent lipopigment (HP:0002074)1.95592933
147Syncope (HP:0001279)1.93181668
148Viral hepatitis (HP:0006562)1.92685854
149Abnormality of the corticospinal tract (HP:0002492)1.92162038
150Insomnia (HP:0100785)1.90956198
151Hypergammaglobulinemia (HP:0010702)1.90948207
152Intellectual disability, profound (HP:0002187)1.90472360
153Truncal ataxia (HP:0002078)1.90193156
154Arterial thrombosis (HP:0004420)1.90166698
155Osteomyelitis (HP:0002754)1.90056212
156Resting tremor (HP:0002322)1.89851793
157Onion bulb formation (HP:0003383)1.88897794
158Papilloma (HP:0012740)1.88485902
159Verrucae (HP:0200043)1.88485902
160Dialeptic seizures (HP:0011146)1.88121184
161Neuronal loss in central nervous system (HP:0002529)1.88106291
162Supraventricular tachycardia (HP:0004755)1.87621749
163Ocular albinism (HP:0001107)1.86238094
164Male infertility (HP:0003251)1.86011750
165Gangrene (HP:0100758)1.85324437
166Supraventricular arrhythmia (HP:0005115)1.84803651
167Scanning speech (HP:0002168)1.84695836
168Macroorchidism (HP:0000053)1.84231190
169Abnormality involving the epiphyses of the upper limbs (HP:0003839)1.82683675
170Hammertoe (HP:0001765)1.82367132
171Coronal craniosynostosis (HP:0004440)1.82162906
172Abnormality of the epiphyses of the hand (HP:0005924)1.81882692
173Infertility (HP:0000789)1.81331098
174Excessive salivation (HP:0003781)1.80407044
175Drooling (HP:0002307)1.80407044
176Rapidly progressive (HP:0003678)1.78173473
177EMG: neuropathic changes (HP:0003445)1.77847594
178Abnormality of salivation (HP:0100755)1.77785354
179Spinal canal stenosis (HP:0003416)1.77065104
180Infantile muscular hypotonia (HP:0008947)1.76116741
181Arterial tortuosity (HP:0005116)1.76035607
182EMG: myopathic abnormalities (HP:0003458)1.74215680
183Neoplasm of the heart (HP:0100544)1.73934665
184Torticollis (HP:0000473)1.73588708
185Frequent falls (HP:0002359)1.72552598
186Xerostomia (HP:0000217)1.72541973
187Visceral angiomatosis (HP:0100761)1.72134560
188Abnormality of the calf musculature (HP:0001430)1.71811386
189Epileptic encephalopathy (HP:0200134)1.70520706
190Cerebral aneurysm (HP:0004944)1.69780760

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP3K93.13787428
2PRKD33.09053174
3TYK22.87160309
4SIK32.76593988
5BLK2.69916513
6TXK2.53632568
7FRK2.40557603
8IKBKE2.34297086
9TRIB32.22378071
10MAP3K142.16556752
11MAP3K132.12633970
12EPHA42.08738011
13TAOK22.05311185
14PAK62.04826552
15NTRK32.00185092
16IRAK41.98640270
17MARK11.88145950
18KSR21.85755294
19IKBKB1.85470858
20FGFR31.84227518
21PRPF4B1.81527742
22TBK11.80281260
23JAK31.80267457
24ICK1.78246350
25TNK21.71298043
26BTK1.70288382
27PHKG21.70132768
28PHKG11.70132768
29CAMKK11.68170749
30CAMK1G1.60060146
31MAP3K41.53969225
32SIK21.53134196
33LMTK21.51449450
34MARK31.49117999
35ITK1.48638000
36MAP3K101.47261287
37STK381.45731841
38PDK31.43893093
39PDK41.43893093
40PRKCH1.43639924
41NTRK21.41407098
42TTN1.39417445
43WNK11.35784952
44DAPK21.35119238
45NTRK11.31135964
46TYRO31.30191555
47MAP3K71.26120385
48ZAP701.24733837
49HCK1.24198473
50LYN1.21918576
51EEF2K1.21628689
52DMPK1.20465649
53MOS1.19825946
54RET1.17410728
55RIPK41.16609819
56CHUK1.16084447
57ADRBK21.13233468
58CDC42BPA1.10805559
59LCK1.10117139
60KIT1.09619469
61MINK11.08403701
62CSK1.08239750
63SGK2231.07955378
64SGK4941.07955378
65KSR11.07832129
66JAK21.06473197
67MAP2K61.02667617
68CDK51.02419414
69UHMK11.01237376
70MAP4K11.01205670
71TAOK11.00941430
72CAMK1D1.00485249
73RIPK10.99707302
74ERN10.99143932
75MARK20.98856232
76BMPR20.98729490
77PKN10.97547719
78SGK30.97077587
79PTK2B0.95479548
80PDK10.94521195
81TEC0.93840563
82STK110.91919010
83PKN20.91048423
84JAK10.90014868
85BMPR1B0.89742654
86MAP3K50.87399191
87MAP3K20.85923104
88ROCK20.85200538
89PAK30.84820221
90EPHB10.84711264
91PRKD10.82654127
92PRKD20.82406186
93ALK0.81502201
94MAPK110.80379633
95PDGFRA0.80372508
96PDPK10.79670867
97GRK70.79147226
98SGK10.77946047
99ROCK10.77452279
100PRKCZ0.76860162
101CDK90.76609492
102MAP4K20.73523899
103MAP2K40.71940871
104MAPK70.71911669
105IRAK10.71286471
106CCNB10.71227167
107FES0.70001478
108SIK10.68929920
109FGR0.68349090
110MATK0.67874092
111PTK60.67811157
112SGK20.63985882
113STK390.63520418
114PDK20.62516593
115CSF1R0.62350399
116TAF10.62006809
117PINK10.60864139
118FYN0.60448021
119MAPK120.59761716
120STK100.59437546
121CSNK1G20.58732134
122PRKCQ0.58421469
123PRKAA10.57211822
124TESK10.56114273
125MAP3K110.55297875
126MELK0.54979578
127TAOK30.54962587
128MAPK130.54144695
129LATS20.54130095
130WNK40.53016204
131HIPK20.51280072
132IRAK30.49942668
133WNK30.49010329
134EPHA30.48988400
135BUB10.48799237
136MAPK100.48683044
137ACVR1B0.47337385
138RPS6KA30.46854230
139CSNK1A1L0.46406701
140GRK60.46301725
141PDGFRB0.46102727
142SYK0.45873517
143MTOR0.45866980
144PRKAA20.45865505
145LRRK20.43136316
146MAP3K10.42963804
147ABL10.41368721
148CAMKK20.41053753
149EIF2AK30.39509287
150IRAK20.37359536
151TLK10.35862332
152MAPK40.35331783
153PIM10.34651807
154PRKCI0.27215467

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary immunodeficiency_Homo sapiens_hsa053403.03302552
2Allograft rejection_Homo sapiens_hsa053302.95417723
3Autoimmune thyroid disease_Homo sapiens_hsa053202.84206088
4Graft-versus-host disease_Homo sapiens_hsa053322.81246982
5Intestinal immune network for IgA production_Homo sapiens_hsa046722.80882843
6Type I diabetes mellitus_Homo sapiens_hsa049402.31618801
7Dorso-ventral axis formation_Homo sapiens_hsa043202.26645828
8Toll-like receptor signaling pathway_Homo sapiens_hsa046202.26130715
9Asthma_Homo sapiens_hsa053102.21946404
10Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.18787677
11NF-kappa B signaling pathway_Homo sapiens_hsa040641.97875996
12Olfactory transduction_Homo sapiens_hsa047401.96497594
13Leishmaniasis_Homo sapiens_hsa051401.94483789
14RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.94385127
15Measles_Homo sapiens_hsa051621.86831803
16Circadian entrainment_Homo sapiens_hsa047131.86825115
17Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.81026707
18B cell receptor signaling pathway_Homo sapiens_hsa046621.80013674
19Influenza A_Homo sapiens_hsa051641.79177508
20Glutamatergic synapse_Homo sapiens_hsa047241.75497445
21T cell receptor signaling pathway_Homo sapiens_hsa046601.72380820
22Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.71531344
23Tuberculosis_Homo sapiens_hsa051521.67185999
24Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.66644458
25Long-term potentiation_Homo sapiens_hsa047201.60132536
26Aldosterone synthesis and secretion_Homo sapiens_hsa049251.58967985
27Gastric acid secretion_Homo sapiens_hsa049711.58682381
28Insulin secretion_Homo sapiens_hsa049111.58571480
29Salivary secretion_Homo sapiens_hsa049701.58282236
30Morphine addiction_Homo sapiens_hsa050321.56136687
31Nitrogen metabolism_Homo sapiens_hsa009101.54922971
32Synaptic vesicle cycle_Homo sapiens_hsa047211.54652807
33Rheumatoid arthritis_Homo sapiens_hsa053231.53698127
34Antigen processing and presentation_Homo sapiens_hsa046121.53371356
35Viral myocarditis_Homo sapiens_hsa054161.50796073
36Staphylococcus aureus infection_Homo sapiens_hsa051501.49725006
37GABAergic synapse_Homo sapiens_hsa047271.48154685
38Renin secretion_Homo sapiens_hsa049241.46986540
39Cholinergic synapse_Homo sapiens_hsa047251.44935508
40Oxytocin signaling pathway_Homo sapiens_hsa049211.44129770
41Herpes simplex infection_Homo sapiens_hsa051681.43994701
42Dopaminergic synapse_Homo sapiens_hsa047281.43684531
43Dilated cardiomyopathy_Homo sapiens_hsa054141.43547036
44NOD-like receptor signaling pathway_Homo sapiens_hsa046211.42550275
45Toxoplasmosis_Homo sapiens_hsa051451.41955479
46Type II diabetes mellitus_Homo sapiens_hsa049301.41217420
47Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.40895021
48TNF signaling pathway_Homo sapiens_hsa046681.40283399
49Jak-STAT signaling pathway_Homo sapiens_hsa046301.39628014
50Amphetamine addiction_Homo sapiens_hsa050311.38256700
51GnRH signaling pathway_Homo sapiens_hsa049121.38254520
52Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.33069422
53Hematopoietic cell lineage_Homo sapiens_hsa046401.31870192
54Phosphatidylinositol signaling system_Homo sapiens_hsa040701.28798777
55Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.24099091
56Gap junction_Homo sapiens_hsa045401.23363196
57Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.21686332
58Nicotine addiction_Homo sapiens_hsa050331.21303972
59Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.21117055
60Hepatitis B_Homo sapiens_hsa051611.20254314
61Cocaine addiction_Homo sapiens_hsa050301.20099815
62cGMP-PKG signaling pathway_Homo sapiens_hsa040221.18381430
63Estrogen signaling pathway_Homo sapiens_hsa049151.17216560
64Long-term depression_Homo sapiens_hsa047301.15910313
65Hepatitis C_Homo sapiens_hsa051601.15075056
66Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.14770303
67Phospholipase D signaling pathway_Homo sapiens_hsa040721.13884707
68Acute myeloid leukemia_Homo sapiens_hsa052211.12957136
69Axon guidance_Homo sapiens_hsa043601.12825345
70Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.12229052
71Glioma_Homo sapiens_hsa052141.11536231
72cAMP signaling pathway_Homo sapiens_hsa040241.11242416
73Calcium signaling pathway_Homo sapiens_hsa040201.06309813
74Thyroid hormone signaling pathway_Homo sapiens_hsa049191.05162658
75Carbohydrate digestion and absorption_Homo sapiens_hsa049731.05092559
76Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.04446280
77Glucagon signaling pathway_Homo sapiens_hsa049221.03625281
78Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.99895797
79Vascular smooth muscle contraction_Homo sapiens_hsa042700.98209784
80Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.97302874
81Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.96906684
82MAPK signaling pathway_Homo sapiens_hsa040100.95950942
83Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.95949751
84Endocytosis_Homo sapiens_hsa041440.95517532
85Neurotrophin signaling pathway_Homo sapiens_hsa047220.95406656
86Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.95260059
87ErbB signaling pathway_Homo sapiens_hsa040120.93132357
88Epstein-Barr virus infection_Homo sapiens_hsa051690.92954903
89Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.92124908
90Apoptosis_Homo sapiens_hsa042100.92082425
91VEGF signaling pathway_Homo sapiens_hsa043700.91194794
92Legionellosis_Homo sapiens_hsa051340.90762518
93Taste transduction_Homo sapiens_hsa047420.90486391
94Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.89533579
95Ovarian steroidogenesis_Homo sapiens_hsa049130.89520885
96African trypanosomiasis_Homo sapiens_hsa051430.87388944
97mTOR signaling pathway_Homo sapiens_hsa041500.83778695
98Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.83754594
99Serotonergic synapse_Homo sapiens_hsa047260.82722743
100Renal cell carcinoma_Homo sapiens_hsa052110.82568319
101Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.81224446
102SNARE interactions in vesicular transport_Homo sapiens_hsa041300.80806568
103Pancreatic secretion_Homo sapiens_hsa049720.80155168
104Choline metabolism in cancer_Homo sapiens_hsa052310.79859794
105Fatty acid biosynthesis_Homo sapiens_hsa000610.79755557
106Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.79332664
107Insulin signaling pathway_Homo sapiens_hsa049100.79102587
108Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.78845823
109Non-small cell lung cancer_Homo sapiens_hsa052230.76673646
110Insulin resistance_Homo sapiens_hsa049310.75234046
111Longevity regulating pathway - mammal_Homo sapiens_hsa042110.75107756
112Oocyte meiosis_Homo sapiens_hsa041140.72634547
113Phagosome_Homo sapiens_hsa041450.72263167
114Chronic myeloid leukemia_Homo sapiens_hsa052200.71522333
115Platelet activation_Homo sapiens_hsa046110.71509531
116Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.71483076
117Sphingolipid signaling pathway_Homo sapiens_hsa040710.71398650
118Adipocytokine signaling pathway_Homo sapiens_hsa049200.71038486
119Ras signaling pathway_Homo sapiens_hsa040140.70699187
120Chemokine signaling pathway_Homo sapiens_hsa040620.70414821
121Notch signaling pathway_Homo sapiens_hsa043300.70248261
122Inositol phosphate metabolism_Homo sapiens_hsa005620.69844508
123Melanogenesis_Homo sapiens_hsa049160.69463461
124Thyroid hormone synthesis_Homo sapiens_hsa049180.68054625
125Pertussis_Homo sapiens_hsa051330.68050858
126Rap1 signaling pathway_Homo sapiens_hsa040150.67964258
127Endometrial cancer_Homo sapiens_hsa052130.67237975
128Focal adhesion_Homo sapiens_hsa045100.65631095
129Malaria_Homo sapiens_hsa051440.65314785
130Pancreatic cancer_Homo sapiens_hsa052120.65169075
131Lysosome_Homo sapiens_hsa041420.63935293
132Shigellosis_Homo sapiens_hsa051310.61841995
133Regulation of actin cytoskeleton_Homo sapiens_hsa048100.61371718
134Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.60327132
135Prion diseases_Homo sapiens_hsa050200.58639272
136Bile secretion_Homo sapiens_hsa049760.58495405
137Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.57437947
138AMPK signaling pathway_Homo sapiens_hsa041520.56358734
139Cardiac muscle contraction_Homo sapiens_hsa042600.56270327
140Central carbon metabolism in cancer_Homo sapiens_hsa052300.55521035
141Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.55150295
142Prolactin signaling pathway_Homo sapiens_hsa049170.53821144
143Proteoglycans in cancer_Homo sapiens_hsa052050.53819053
144Hedgehog signaling pathway_Homo sapiens_hsa043400.53224297
145Collecting duct acid secretion_Homo sapiens_hsa049660.52534175
146Glycerophospholipid metabolism_Homo sapiens_hsa005640.51780412
147Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.51522688
148FoxO signaling pathway_Homo sapiens_hsa040680.50298281
149Osteoclast differentiation_Homo sapiens_hsa043800.50294447
150Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.49701944
151Tight junction_Homo sapiens_hsa045300.49385043
152Salmonella infection_Homo sapiens_hsa051320.48348090
153Other glycan degradation_Homo sapiens_hsa005110.48340679
154ABC transporters_Homo sapiens_hsa020100.48005817
155HTLV-I infection_Homo sapiens_hsa051660.44519512
156Transcriptional misregulation in cancer_Homo sapiens_hsa052020.41771162
157AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.40956773

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