NAPA

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





Description: This gene encodes a member of the soluble NSF attachment protein (SNAP) family. SNAP proteins play a critical role in the docking and fusion of vesicles to target membranes as part of the 20S NSF-SNAP-SNARE complex. The encoded protein plays a role in the completion of membrane fusion by mediating the interaction of N-ethylmaleimide-sensitive factor (NSF) with the vesicle-associated and membrane-associated SNAP receptor (SNARE) complex, and stimulating the ATPase activity of NSF. Alternatively spliced transcript variants have been observed for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle exocytosis (GO:0016079)5.49265037
2synaptic vesicle docking involved in exocytosis (GO:0016081)5.14130193
3glutamate secretion (GO:0014047)4.62517317
4neuronal action potential propagation (GO:0019227)4.60874749
5energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)4.49235852
6ATP hydrolysis coupled proton transport (GO:0015991)4.49235852
7transferrin transport (GO:0033572)4.42326665
8regulation of short-term neuronal synaptic plasticity (GO:0048172)4.35943985
9* regulation of synaptic vesicle exocytosis (GO:2000300)4.14084432
10ferric iron transport (GO:0015682)4.11435708
11trivalent inorganic cation transport (GO:0072512)4.11435708
12protein localization to synapse (GO:0035418)4.05033291
13regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.97238514
14positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.89593875
15negative regulation of leukocyte mediated cytotoxicity (GO:0001911)3.82441948
16negative regulation of cell killing (GO:0031342)3.82441948
17Golgi transport vesicle coating (GO:0048200)3.69896727
18COPI coating of Golgi vesicle (GO:0048205)3.69896727
19neurotransmitter-gated ion channel clustering (GO:0072578)3.69564889
20neuron cell-cell adhesion (GO:0007158)3.68866121
21negative regulation of synaptic transmission, GABAergic (GO:0032229)3.68731907
22synaptic vesicle maturation (GO:0016188)3.68413251
23* regulation of synaptic vesicle transport (GO:1902803)3.68373353
24presynaptic membrane assembly (GO:0097105)3.60594679
25cellular response to type I interferon (GO:0071357)3.55962790
26type I interferon signaling pathway (GO:0060337)3.55962790
27presynaptic membrane organization (GO:0097090)3.55591037
28vocalization behavior (GO:0071625)3.54590551
29antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.54099784
30positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.52284515
31regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act3.51173928
32response to type I interferon (GO:0034340)3.50251579
33positive regulation of synapse maturation (GO:0090129)3.48563001
34neurotransmitter secretion (GO:0007269)3.47846103
35neutrophil activation involved in immune response (GO:0002283)3.42193602
36gamma-aminobutyric acid signaling pathway (GO:0007214)3.40532489
37positive regulation of gamma-delta T cell activation (GO:0046645)3.40427560
38antigen processing and presentation of endogenous antigen (GO:0019883)3.38135348
39long-term synaptic potentiation (GO:0060291)3.37090392
40postsynaptic membrane organization (GO:0001941)3.36380285
41response to peptidoglycan (GO:0032494)3.36282548
42protein maturation by protein folding (GO:0022417)3.35232420
43negative regulation of erythrocyte differentiation (GO:0045647)3.30608804
44urinary tract smooth muscle contraction (GO:0014848)3.28694375
45phagosome maturation (GO:0090382)3.27415522
46immunoglobulin mediated immune response (GO:0016064)3.26523154
47membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.25160936
48antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)3.23148418
49NADH metabolic process (GO:0006734)3.22935157
50negative regulation of dendrite morphogenesis (GO:0050774)3.20830486
51macrophage activation involved in immune response (GO:0002281)3.20708593
52antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.19920221
53regulation of glutamate receptor signaling pathway (GO:1900449)3.18701764
54negative regulation of interleukin-12 production (GO:0032695)3.18527153
55negative regulation of cation channel activity (GO:2001258)3.15407388
56positive regulation by symbiont of host defense response (GO:0052509)3.15098890
57modulation by symbiont of host defense response (GO:0052031)3.15098890
58modulation by organism of immune response of other organism involved in symbiotic interaction (GO:003.15098890
59modulation by organism of defense response of other organism involved in symbiotic interaction (GO:03.15098890
60positive regulation by organism of defense response of other organism involved in symbiotic interact3.15098890
61modulation by symbiont of host immune response (GO:0052553)3.15098890
62detection of calcium ion (GO:0005513)3.07278608
63regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.06854025
64* neuron-neuron synaptic transmission (GO:0007270)3.05747166
65cullin deneddylation (GO:0010388)3.05015914
66regulation of vesicle fusion (GO:0031338)3.02090093
67positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.02044629
68lipopolysaccharide-mediated signaling pathway (GO:0031663)3.01018535
69serotonin metabolic process (GO:0042428)3.00064707
70regulation of T-helper 2 cell differentiation (GO:0045628)2.99896948
71establishment of synaptic vesicle localization (GO:0097480)2.98805574
72synaptic vesicle transport (GO:0048489)2.98805574
73positive regulation of membrane potential (GO:0045838)2.97692365
74signal peptide processing (GO:0006465)2.93869647
75detection of bacterium (GO:0016045)2.91159163
76detection of other organism (GO:0098543)2.89469719
77synaptic vesicle endocytosis (GO:0048488)2.88616585
78positive regulation of type 2 immune response (GO:0002830)2.86037220
79regulation of synaptic plasticity (GO:0048167)2.85206633
80* regulation of neurotransmitter secretion (GO:0046928)2.83052775
81negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.82194195
82neurotransmitter transport (GO:0006836)2.82194177
83interferon-gamma-mediated signaling pathway (GO:0060333)2.82071997
84neuromuscular process controlling posture (GO:0050884)2.81399451
85protein complex biogenesis (GO:0070271)2.80994512
86regulation of neuronal synaptic plasticity (GO:0048168)2.80460327
87regulation of synaptic transmission, glutamatergic (GO:0051966)2.79067701
88regulation of excitatory postsynaptic membrane potential (GO:0060079)2.78785422
89behavioral response to cocaine (GO:0048148)2.78656820
90striatum development (GO:0021756)2.78583345
91* synaptic transmission, glutamatergic (GO:0035249)2.78574936
92calcium ion-dependent exocytosis (GO:0017156)2.78515296
93vesicle docking involved in exocytosis (GO:0006904)2.78256769
94regulation of synapse maturation (GO:0090128)2.78134843
95cerebellar granule cell differentiation (GO:0021707)2.78001764
96NIK/NF-kappaB signaling (GO:0038061)2.77541058
97regulation of voltage-gated calcium channel activity (GO:1901385)2.77409154
98positive regulation of neurotransmitter transport (GO:0051590)2.75529569
99inositol phosphate catabolic process (GO:0071545)2.75507458
100protein deneddylation (GO:0000338)2.75374726
101glutamate receptor signaling pathway (GO:0007215)2.73954338
102membrane depolarization during action potential (GO:0086010)2.72778244
103response to pheromone (GO:0019236)2.72513904
104cerebellar Purkinje cell differentiation (GO:0021702)2.71093314
105positive regulation of neurotransmitter secretion (GO:0001956)2.70234047
106G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.70065255
107insulin secretion (GO:0030073)2.69899402
108ionotropic glutamate receptor signaling pathway (GO:0035235)2.68630544
109protein localization to endosome (GO:0036010)2.67512581
110ER overload response (GO:0006983)2.67285601
111regulation of glutamate secretion (GO:0014048)2.67035662
112* regulation of neurotransmitter transport (GO:0051588)2.65889473
113chaperone-mediated protein transport (GO:0072321)2.65849246
114germinal center formation (GO:0002467)2.65763755
115regulation of type 2 immune response (GO:0002828)2.65297018
116negative regulation of cytokine production involved in immune response (GO:0002719)2.65055331
117regulation of postsynaptic membrane potential (GO:0060078)2.65027631
118mitochondrial electron transport, NADH to ubiquinone (GO:0006120)2.64137606
119regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.63612916
120establishment of vesicle localization (GO:0051650)2.63354928
121negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)2.63351029
122regulation of mast cell degranulation (GO:0043304)2.62443616
123positive regulation of exocytosis (GO:0045921)2.61953842
124positive regulation of synaptic transmission (GO:0050806)2.61201552
125oxaloacetate metabolic process (GO:0006107)2.60739149
126positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.59716507
127negative regulation of calcium ion transmembrane transport (GO:1903170)2.59473544
128negative regulation of calcium ion transmembrane transporter activity (GO:1901020)2.59473544
129* synaptic transmission (GO:0007268)2.57265812
130positive regulation of synaptic transmission, GABAergic (GO:0032230)2.56304335
131locomotory exploration behavior (GO:0035641)2.56209285
132establishment of melanosome localization (GO:0032401)2.56120873
133L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.54122300
134melanosome transport (GO:0032402)2.53996525
135GDP-mannose metabolic process (GO:0019673)2.53823269
136negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)2.53583184
137regulation of long-term neuronal synaptic plasticity (GO:0048169)2.53304901
138regulation of dendritic cell antigen processing and presentation (GO:0002604)2.51255487
139granulocyte activation (GO:0036230)2.49658030
140regulation of interferon-beta biosynthetic process (GO:0045357)2.49048846
141barbed-end actin filament capping (GO:0051016)2.48224095
142regulation of leukocyte degranulation (GO:0043300)2.45651238
143regulation of defense response to virus by virus (GO:0050690)2.45310305
144myeloid dendritic cell differentiation (GO:0043011)2.43885683
145myeloid cell activation involved in immune response (GO:0002275)2.43103459
146regulation of type I interferon-mediated signaling pathway (GO:0060338)2.42893157
147negative regulation of leukocyte mediated immunity (GO:0002704)2.42747226
148regulation of regulated secretory pathway (GO:1903305)2.42658522
149detection of external biotic stimulus (GO:0098581)2.42327162
150regulation of gamma-delta T cell activation (GO:0046643)2.42160226
151negative regulation of innate immune response (GO:0045824)2.40682919
152cellular response to thyroid hormone stimulus (GO:0097067)2.40669860
153activation of MAPKKK activity (GO:0000185)2.40512300
154regulation of myeloid leukocyte mediated immunity (GO:0002886)2.39619581
155response to host immune response (GO:0052572)2.37119593
156response to immune response of other organism involved in symbiotic interaction (GO:0052564)2.37119593
157regulation of T-helper 1 cell differentiation (GO:0045625)2.36349422
158negative regulation of amyloid precursor protein catabolic process (GO:1902992)2.35918176
159negative regulation of myeloid cell apoptotic process (GO:0033033)2.35259116
160mature B cell differentiation involved in immune response (GO:0002313)2.33101579
161modulation by symbiont of host cellular process (GO:0044068)2.32349671
162leukocyte aggregation (GO:0070486)2.31884429
163response to muramyl dipeptide (GO:0032495)2.29272851
164neutrophil activation (GO:0042119)2.28529182
165negative regulation of lymphocyte mediated immunity (GO:0002707)2.28495660
166adenosine receptor signaling pathway (GO:0001973)2.28215785
167regulation of ARF protein signal transduction (GO:0032012)2.27829754
168negative regulation of type 2 immune response (GO:0002829)2.27223059
169defense response to protozoan (GO:0042832)2.26734603
170regulation of mast cell activation involved in immune response (GO:0033006)2.26066346
171signal complex assembly (GO:0007172)2.26014191
172lymphocyte chemotaxis (GO:0048247)2.24315522
173regulation of T cell tolerance induction (GO:0002664)2.22206682
174negative regulation of T cell mediated immunity (GO:0002710)2.22090832
175positive regulation of cellular amide metabolic process (GO:0034250)2.21119084
176cellular response to virus (GO:0098586)2.21035999
177macrophage activation (GO:0042116)2.20943940
178B cell mediated immunity (GO:0019724)2.20354824
179response to protozoan (GO:0001562)2.19563547
180amino sugar catabolic process (GO:0046348)2.17764204
181regulation of early endosome to late endosome transport (GO:2000641)2.16279659
182positive regulation of interleukin-2 biosynthetic process (GO:0045086)2.16165280
183response to thyroid hormone (GO:0097066)2.14599277
184detection of molecule of bacterial origin (GO:0032490)2.14165061
185response to host (GO:0075136)2.12793841
186response to host defenses (GO:0052200)2.12793841
187response to defenses of other organism involved in symbiotic interaction (GO:0052173)2.12793841
188negative regulation of glycoprotein metabolic process (GO:1903019)2.12657187
189positive regulation of protein dephosphorylation (GO:0035307)2.12055557
190glycosphingolipid catabolic process (GO:0046479)2.12047082
191actin filament polymerization (GO:0030041)2.11960974
192positive regulation of Cdc42 GTPase activity (GO:0043089)2.11918276
193T cell migration (GO:0072678)2.11078193
194regulation of antigen processing and presentation (GO:0002577)2.10797793

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1GBX2_23144817_ChIP-Seq_PC3_Human4.26644829
2EZH2_22144423_ChIP-Seq_EOC_Human4.23376155
3IRF8_22096565_ChIP-ChIP_GC-B_Human3.19378372
4THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse3.12099453
5BP1_19119308_ChIP-ChIP_Hs578T_Human3.00289291
6SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.98758348
7TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.89952367
8REST_21632747_ChIP-Seq_MESCs_Mouse2.80893531
9SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.75912123
10LXR_22292898_ChIP-Seq_THP-1_Human2.70750157
11NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.62122065
12REST_18959480_ChIP-ChIP_MESCs_Mouse2.61173137
13NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.57982960
14PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.57899068
15VDR_21846776_ChIP-Seq_THP-1_Human2.46458506
16JARID2_20075857_ChIP-Seq_MESCs_Mouse2.43123136
17SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.38699278
18* RARB_27405468_Chip-Seq_BRAIN_Mouse2.32722523
19SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.32165643
20SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.29849583
21JARID2_20064375_ChIP-Seq_MESCs_Mouse2.28590118
22NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.27515928
23RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.26428133
24IRF8_21731497_ChIP-ChIP_J774_Mouse2.18486662
25SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.17915220
26KDM2B_26808549_Chip-Seq_SUP-B15_Human2.16986461
27MTF2_20144788_ChIP-Seq_MESCs_Mouse2.12938754
28TAF15_26573619_Chip-Seq_HEK293_Human2.12546864
29EZH2_27304074_Chip-Seq_ESCs_Mouse2.11140108
30EED_16625203_ChIP-ChIP_MESCs_Mouse2.08724714
31ELK3_25401928_ChIP-Seq_HUVEC_Human2.07176975
32RNF2_18974828_ChIP-Seq_MESCs_Mouse2.07172903
33EZH2_18974828_ChIP-Seq_MESCs_Mouse2.07172903
34MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.06114210
35CTBP2_25329375_ChIP-Seq_LNCAP_Human2.05151919
36CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.03469412
37RARG_19884340_ChIP-ChIP_MEFs_Mouse1.98917741
38TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.97418213
39PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.96729729
40IKZF1_21737484_ChIP-ChIP_HCT116_Human1.96257782
41SUZ12_27294783_Chip-Seq_ESCs_Mouse1.95940685
42EZH2_27294783_Chip-Seq_ESCs_Mouse1.95923668
43IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.92603591
44* SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.89386371
45VDR_24763502_ChIP-Seq_THP-1_Human1.89053873
46* KDM2B_26808549_Chip-Seq_DND41_Human1.82388256
47NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.81900855
48KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.80966248
49BMI1_23680149_ChIP-Seq_NPCS_Mouse1.78583925
50* E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.77208021
51ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.76765042
52CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.75947328
53DROSHA_22980978_ChIP-Seq_HELA_Human1.72393027
54TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.71992990
55RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.71610245
56TCF7_22412390_ChIP-Seq_EML_Mouse1.71248113
57IRF8_27001747_Chip-Seq_BMDM_Mouse1.69419675
58STAT4_19710469_ChIP-ChIP_TH1__Mouse1.68947389
59CTBP1_25329375_ChIP-Seq_LNCAP_Human1.68848095
60MYC_22102868_ChIP-Seq_BL_Human1.67382728
61RUNX1_22412390_ChIP-Seq_EML_Mouse1.64474642
62RACK7_27058665_Chip-Seq_MCF-7_Human1.63671740
63MAF_26560356_Chip-Seq_TH1_Human1.63635686
64SRY_22984422_ChIP-ChIP_TESTIS_Rat1.63196896
65ZFP57_27257070_Chip-Seq_ESCs_Mouse1.62792042
66MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.61409917
67MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.59826323
68GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.59746598
69GATA1_19941827_ChIP-Seq_MEL_Mouse1.59723686
70SPI1_23127762_ChIP-Seq_K562_Human1.59410638
71RNF2_27304074_Chip-Seq_ESCs_Mouse1.59119230
72STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.57467167
73P68_20966046_ChIP-Seq_HELA_Human1.55474269
74ELF1_20517297_ChIP-Seq_JURKAT_Human1.54348182
75THAP11_20581084_ChIP-Seq_MESCs_Mouse1.54251142
76SMAD4_21799915_ChIP-Seq_A2780_Human1.53194509
77* UTX_26944678_Chip-Seq_JUKART_Human1.52579334
78LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.51514839
79MYB_21317192_ChIP-Seq_ERMYB_Mouse1.50708287
80BCL6_27268052_Chip-Seq_Bcells_Human1.50447057
81BCOR_27268052_Chip-Seq_Bcells_Human1.50002811
82NR3C1_23031785_ChIP-Seq_PC12_Mouse1.48895310
83NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.47815309
84LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.47373383
85CTCF_27219007_Chip-Seq_ERYTHROID_Human1.47131496
86BRD4_27068464_Chip-Seq_AML-cells_Mouse1.46970630
87VDR_22108803_ChIP-Seq_LS180_Human1.46544416
88ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.45239558
89TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.45036372
90KDM2B_26808549_Chip-Seq_K562_Human1.42714376
91PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.42436720
92GATA1_19941826_ChIP-Seq_K562_Human1.40890904
93MAF_26560356_Chip-Seq_TH2_Human1.40800307
94TET1_21451524_ChIP-Seq_MESCs_Mouse1.39192866
95SA1_27219007_Chip-Seq_ERYTHROID_Human1.38577392
96P300_19829295_ChIP-Seq_ESCs_Human1.38188557
97GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.37989096
98ESR2_21235772_ChIP-Seq_MCF-7_Human1.37210687
99SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.36754472
100TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.36609486
101SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.36123385
102EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.35467030
103SCL_19346495_ChIP-Seq_HPC-7_Human1.35402593
104* IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.34798516
105SMC4_20622854_ChIP-Seq_HELA_Human1.34477395
106CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse1.34403005
107GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.34164302
108GATA1_22383799_ChIP-Seq_G1ME_Mouse1.32952615
109* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.31623535
110* JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.28373993
111PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.27160569
112CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.26707025
113* RXR_22158963_ChIP-Seq_LIVER_Mouse1.26536166
114PU.1_20513432_ChIP-Seq_Bcells_Mouse1.26034561
115DNAJC2_21179169_ChIP-ChIP_NT2_Human1.25708510
116HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.24360362
117FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.23382202
118PPARA_22158963_ChIP-Seq_LIVER_Mouse1.22727861
119CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.22224674
120GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.21822292
121SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.20842562
122KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.18435110
123* SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.18169969
124KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.17367668
125PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.17073079
126TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.16514519
127* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.16141284
128TOP2B_26459242_ChIP-Seq_MCF-7_Human1.15862266
129SPI1_23547873_ChIP-Seq_NB4_Human1.15691611
130SA1_27219007_Chip-Seq_Bcells_Human1.15419063
131POU3F2_20337985_ChIP-ChIP_501MEL_Human1.14148573
132SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.14034805
133OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.13947271
134SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.13483003
135PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.12902486
136FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.12203564
137KDM2B_26808549_Chip-Seq_JURKAT_Human1.11745039
138EGR1_19374776_ChIP-ChIP_THP-1_Human1.10695465
139SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.10588579
140FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.09966623
141AR_25329375_ChIP-Seq_VCAP_Human1.08981912
142NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.08595288
143UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.08043126
144SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.06752072
145P53_22127205_ChIP-Seq_FIBROBLAST_Human1.05919162
146RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.05691737
147CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.05167135
148CTCF_26484167_Chip-Seq_Bcells_Mouse1.04440030
149* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.03764956
150SRF_21415370_ChIP-Seq_HL-1_Mouse1.03362356
151GATA2_22383799_ChIP-Seq_G1ME_Mouse1.03269651
152CREB1_26743006_Chip-Seq_LNCaP_Human1.02897585
153SOX2_21211035_ChIP-Seq_LN229_Gbm1.02253961
154Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.01987366
155PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.01914368
156TP63_17297297_ChIP-ChIP_HaCaT_Human1.00504317
157SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.99841110
158SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.99348926
159SMAD3_21741376_ChIP-Seq_EPCs_Human0.98312969
160PIAS1_25552417_ChIP-Seq_VCAP_Human0.96572850
161REST_19997604_ChIP-ChIP_NEURONS_Mouse0.96284775
162TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.96069617
163ERG_21242973_ChIP-ChIP_JURKAT_Human0.95490641
164JUN_21703547_ChIP-Seq_K562_Human0.94964951
165PRDM14_20953172_ChIP-Seq_ESCs_Human0.91556417
166RNF2_27304074_Chip-Seq_NSC_Mouse0.90336683
167AR_21572438_ChIP-Seq_LNCaP_Human0.89133061
168TCF4_23295773_ChIP-Seq_U87_Human0.88387043
169* STAT3_23295773_ChIP-Seq_U87_Human0.87836103
170DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.87202767
171ZNF274_21170338_ChIP-Seq_K562_Hela0.86807605
172VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.85744821
173GABP_17652178_ChIP-ChIP_JURKAT_Human0.85187293
174SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.84715597
175* GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.84280070
176YY1_21170310_ChIP-Seq_MESCs_Mouse0.83703296
177CBX2_27304074_Chip-Seq_ESCs_Mouse0.82205861
178NANOG_19829295_ChIP-Seq_ESCs_Human0.81466136
179SOX2_19829295_ChIP-Seq_ESCs_Human0.81466136
180SOX9_26525672_Chip-Seq_HEART_Mouse0.81400349
181ER_23166858_ChIP-Seq_MCF-7_Human0.80980036
182TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.80337551
183PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.80098622
184EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.79906563
185* TP53_22573176_ChIP-Seq_HFKS_Human0.79300655
186FLI1_21867929_ChIP-Seq_TH2_Mouse0.78143429
187TET1_21490601_ChIP-Seq_MESCs_Mouse0.78102953
188* MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.77020989
189OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.77014068
190AR_19668381_ChIP-Seq_PC3_Human0.76932066
191RUNX2_22187159_ChIP-Seq_PCA_Human0.76114755

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003880_abnormal_central_pattern4.15500571
2MP0004859_abnormal_synaptic_plasticity4.09238431
3MP0003303_peritoneal_inflammation4.03188734
4MP0001968_abnormal_touch/_nociception3.37880552
5MP0005058_abnormal_lysosome_morphology3.35039484
6MP0004270_analgesia3.32723365
7MP0003436_decreased_susceptibility_to3.27708156
8MP0003635_abnormal_synaptic_transmissio3.16271409
9MP0002736_abnormal_nociception_after3.11466262
10MP0003724_increased_susceptibility_to3.04870316
11MP0009046_muscle_twitch2.96891992
12MP0002735_abnormal_chemical_nociception2.89243858
13MP0002064_seizures2.85201112
14MP0003183_abnormal_peptide_metabolism2.83493209
15MP0009745_abnormal_behavioral_response2.83367184
16MP0002734_abnormal_mechanical_nocicepti2.75255186
17MP0006082_CNS_inflammation2.70067200
18MP0009840_abnormal_foam_cell2.67717953
19MP0002272_abnormal_nervous_system2.54361488
20MP0004510_myositis2.53211818
21MP0002063_abnormal_learning/memory/cond2.52494223
22MP0009785_altered_susceptibility_to2.50907816
23MP0010386_abnormal_urinary_bladder2.50685842
24MP0003191_abnormal_cellular_cholesterol2.49225959
25MP0001835_abnormal_antigen_presentation2.46102674
26MP0005451_abnormal_body_composition2.45451249
27MP0000013_abnormal_adipose_tissue2.43303568
28MP0005000_abnormal_immune_tolerance2.41119751
29MP0002148_abnormal_hypersensitivity_rea2.39130517
30MP0005025_abnormal_response_to2.36835497
31MP0002572_abnormal_emotion/affect_behav2.33675209
32MP0003075_altered_response_to2.31434505
33MP0005464_abnormal_platelet_physiology2.31220594
34MP0002837_dystrophic_cardiac_calcinosis2.26426328
35MP0005671_abnormal_response_to2.23050091
36MP0002419_abnormal_innate_immunity2.21795016
37MP0005646_abnormal_pituitary_gland2.17601394
38MP0003879_abnormal_hair_cell2.16991062
39MP0009780_abnormal_chondrocyte_physiolo2.14061713
40MP0002822_catalepsy2.10739978
41MP0001790_abnormal_immune_system2.10518626
42MP0005387_immune_system_phenotype2.10518626
43MP0001970_abnormal_pain_threshold2.10258752
44MP0001984_abnormal_olfaction2.06593907
45MP0002733_abnormal_thermal_nociception2.05047854
46MP0003300_gastrointestinal_ulcer2.00009656
47MP0004043_abnormal_pH_regulation1.98248730
48MP0001501_abnormal_sleep_pattern1.97252519
49MP0002909_abnormal_adrenal_gland1.97104465
50* MP0002067_abnormal_sensory_capabilities1.95907486
51MP0006276_abnormal_autonomic_nervous1.90118085
52MP0003122_maternal_imprinting1.85063409
53MP0002723_abnormal_immune_serum1.84393386
54MP0001533_abnormal_skeleton_physiology1.83403167
55MP0004947_skin_inflammation1.83287538
56MP0000604_amyloidosis1.82128356
57MP0000685_abnormal_immune_system1.80984848
58MP0001800_abnormal_humoral_immune1.76094187
59MP0002876_abnormal_thyroid_physiology1.74576198
60MP0009278_abnormal_bone_marrow1.74085859
61MP0001986_abnormal_taste_sensitivity1.73485640
62MP0002452_abnormal_antigen_presenting1.71827107
63MP0002420_abnormal_adaptive_immunity1.66413414
64MP0001819_abnormal_immune_cell1.65464708
65MP0008569_lethality_at_weaning1.65336590
66MP0000343_altered_response_to1.64790398
67MP0003787_abnormal_imprinting1.62453148
68MP0002163_abnormal_gland_morphology1.62034389
69MP0005379_endocrine/exocrine_gland_phen1.59617558
70MP0003329_amyloid_beta_deposits1.58288076
71MP0004142_abnormal_muscle_tone1.55725505
72MP0001529_abnormal_vocalization1.55694906
73MP0001486_abnormal_startle_reflex1.54519841
74MP0001440_abnormal_grooming_behavior1.54416332
75MP0002184_abnormal_innervation1.53311435
76MP0005166_decreased_susceptibility_to1.51478838
77MP0009764_decreased_sensitivity_to1.49203874
78MP0003690_abnormal_glial_cell1.48967352
79MP0001845_abnormal_inflammatory_respons1.45812712
80MP0010155_abnormal_intestine_physiology1.45200756
81MP0001502_abnormal_circadian_rhythm1.44342305
82MP0001905_abnormal_dopamine_level1.41433336
83MP0009333_abnormal_splenocyte_physiolog1.37116350
84MP0001545_abnormal_hematopoietic_system1.36830218
85MP0005397_hematopoietic_system_phenotyp1.36830218
86MP0004858_abnormal_nervous_system1.35738767
87MP0008469_abnormal_protein_level1.34210700
88MP0004811_abnormal_neuron_physiology1.31251422
89MP0000920_abnormal_myelination1.30813287
90MP0008874_decreased_physiological_sensi1.30161190
91MP0003806_abnormal_nucleotide_metabolis1.29660616
92MP0004924_abnormal_behavior1.29245287
93MP0005386_behavior/neurological_phenoty1.29245287
94MP0005645_abnormal_hypothalamus_physiol1.28991718
95MP0002557_abnormal_social/conspecific_i1.28351504
96MP0002139_abnormal_hepatobiliary_system1.28210029
97MP0003763_abnormal_thymus_physiology1.27676033
98MP0005551_abnormal_eye_electrophysiolog1.27099367
99MP0008260_abnormal_autophagy1.26966816
100MP0000858_altered_metastatic_potential1.26334426
101MP0002638_abnormal_pupillary_reflex1.24169237
102MP0003656_abnormal_erythrocyte_physiolo1.22584244
103MP0000716_abnormal_immune_system1.22374532
104MP0005167_abnormal_blood-brain_barrier1.21168557
105MP0002998_abnormal_bone_remodeling1.20944095
106MP0002693_abnormal_pancreas_physiology1.20317600
107* MP0002066_abnormal_motor_capabilities/c1.18927722
108MP0003866_abnormal_defecation1.18825689
109MP0002398_abnormal_bone_marrow1.17834553
110MP0000749_muscle_degeneration1.16897863
111* MP0002882_abnormal_neuron_morphology1.13979829
112MP0002405_respiratory_system_inflammati1.13780117
113MP0001853_heart_inflammation1.12811802
114MP0004145_abnormal_muscle_electrophysio1.12668582
115MP0005310_abnormal_salivary_gland1.12528488
116MP0005171_absent_coat_pigmentation1.12252531
117MP0002229_neurodegeneration1.11446384
118MP0004233_abnormal_muscle_weight1.10286938
119* MP0000955_abnormal_spinal_cord1.08872180
120MP0001188_hyperpigmentation1.08469005
121MP0003195_calcinosis1.08263876
122MP0000751_myopathy1.08052275
123MP0002332_abnormal_exercise_endurance1.00649459
124MP0002429_abnormal_blood_cell1.00400721
125MP0003633_abnormal_nervous_system1.00031029
126MP0003453_abnormal_keratinocyte_physiol0.98116490
127MP0001664_abnormal_digestion0.95757603
128MP0005165_increased_susceptibility_to0.95439936
129MP0001944_abnormal_pancreas_morphology0.95123004
130MP0008004_abnormal_stomach_pH0.93733325
131MP0003448_altered_tumor_morphology0.93549095
132MP0006036_abnormal_mitochondrial_physio0.93541568
133MP0000678_abnormal_parathyroid_gland0.92485654
134MP0008872_abnormal_physiological_respon0.92349769
135MP0005535_abnormal_body_temperature0.91931967
136MP0006072_abnormal_retinal_apoptosis0.91196260
137MP0000465_gastrointestinal_hemorrhage0.90277777
138MP0002069_abnormal_eating/drinking_beha0.89778168
139MP0003705_abnormal_hypodermis_morpholog0.89302243
140MP0009763_increased_sensitivity_to0.88607612
141MP0002722_abnormal_immune_system0.88030277
142MP0003045_fibrosis0.87798555
143MP0000689_abnormal_spleen_morphology0.86655440
144MP0004036_abnormal_muscle_relaxation0.83712394
145MP0002078_abnormal_glucose_homeostasis0.83504957
146MP0005423_abnormal_somatic_nervous0.83032462
147MP0002751_abnormal_autonomic_nervous0.80673007
148MP0003631_nervous_system_phenotype0.80482856
149MP0001542_abnormal_bone_strength0.79728121
150MP0002090_abnormal_vision0.79260055
151MP0001765_abnormal_ion_homeostasis0.78432064
152MP0003172_abnormal_lysosome_physiology0.77886927
153MP0001963_abnormal_hearing_physiology0.77327636
154MP0001851_eye_inflammation0.76921413
155MP0004085_abnormal_heartbeat0.75469226
156MP0005390_skeleton_phenotype0.75259092
157MP0000003_abnormal_adipose_tissue0.73860190
158MP0006035_abnormal_mitochondrial_morpho0.72132773
159MP0003283_abnormal_digestive_organ0.71179192
160MP0005584_abnormal_enzyme/coenzyme_acti0.71117836
161MP0000681_abnormal_thyroid_gland0.69611161
162MP0003634_abnormal_glial_cell0.69196881
163MP0000631_abnormal_neuroendocrine_gland0.68477411
164MP0002132_abnormal_respiratory_system0.68387406
165MP0002877_abnormal_melanocyte_morpholog0.68315648
166MP0005499_abnormal_olfactory_system0.68194994
167MP0005394_taste/olfaction_phenotype0.68194994
168MP0003279_aneurysm0.68040125
169MP0000230_abnormal_systemic_arterial0.67367428
170MP0004215_abnormal_myocardial_fiber0.67260541
171MP0005666_abnormal_adipose_tissue0.67108363
172MP0001663_abnormal_digestive_system0.66946313
173MP0005365_abnormal_bile_salt0.65834505
174MP0004147_increased_porphyrin_level0.65669498
175MP0003953_abnormal_hormone_level0.65190956
176MP0002752_abnormal_somatic_nervous0.65038705
177MP0003795_abnormal_bone_structure0.62010499
178MP0000747_muscle_weakness0.61584045
179MP0003828_pulmonary_edema0.60275865
180MP0002118_abnormal_lipid_homeostasis0.59765055
181MP0005164_abnormal_response_to0.59032558
182MP0000249_abnormal_blood_vessel0.57307202
183MP0000609_abnormal_liver_physiology0.56253818

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)5.94179502
2Atonic seizures (HP:0010819)4.95780945
3Epileptic encephalopathy (HP:0200134)4.91129503
4Pheochromocytoma (HP:0002666)4.11110408
5Neuroendocrine neoplasm (HP:0100634)4.05680438
6Eczematoid dermatitis (HP:0000976)3.98594747
7Abnormality of macrophages (HP:0004311)3.96122265
8Visual hallucinations (HP:0002367)3.86628707
9Myokymia (HP:0002411)3.86532171
10Abnormal mitochondria in muscle tissue (HP:0008316)3.84198379
11Febrile seizures (HP:0002373)3.81388185
12Acute necrotizing encephalopathy (HP:0006965)3.80874651
13Absence seizures (HP:0002121)3.71676468
14Focal seizures (HP:0007359)3.60769061
15Systemic lupus erythematosus (HP:0002725)3.58476148
16Dialeptic seizures (HP:0011146)3.41920630
17Purpura (HP:0000979)3.28865140
18Myositis (HP:0100614)3.25354855
19Hyperventilation (HP:0002883)3.20576089
20Orchitis (HP:0100796)3.18993693
21Mitochondrial inheritance (HP:0001427)3.18701421
22Petechiae (HP:0000967)3.17196280
23Hypothermia (HP:0002045)3.13449350
24Loss of speech (HP:0002371)3.05255601
25Progressive macrocephaly (HP:0004481)3.04537015
26Increased cerebral lipofuscin (HP:0011813)3.03168280
27Recurrent abscess formation (HP:0002722)3.02162764
28Abnormal hair whorl (HP:0010721)3.01825121
29Recurrent bacterial skin infections (HP:0005406)2.99667006
30Acute encephalopathy (HP:0006846)2.96267147
31Generalized tonic-clonic seizures (HP:0002069)2.90938698
32Hepatocellular necrosis (HP:0001404)2.90837037
33Retrobulbar optic neuritis (HP:0100654)2.86807066
34Optic neuritis (HP:0100653)2.86807066
35Progressive cerebellar ataxia (HP:0002073)2.86211410
36Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.84560703
37Increased IgE level (HP:0003212)2.83957759
38Elevated erythrocyte sedimentation rate (HP:0003565)2.81591527
39Mutism (HP:0002300)2.79359024
40Increased CSF lactate (HP:0002490)2.78025526
41Medial flaring of the eyebrow (HP:0010747)2.71813629
42Recurrent gram-negative bacterial infections (HP:0005420)2.69630475
43Epileptiform EEG discharges (HP:0011182)2.69430230
44Gait imbalance (HP:0002141)2.68675436
45Neurofibrillary tangles (HP:0002185)2.68220071
46Nephrogenic diabetes insipidus (HP:0009806)2.67770534
47Neuronal loss in central nervous system (HP:0002529)2.65092230
48Failure to thrive in infancy (HP:0001531)2.64959470
49Congenital primary aphakia (HP:0007707)2.63220788
50Mediastinal lymphadenopathy (HP:0100721)2.62811156
51Stomatitis (HP:0010280)2.61016246
52Abnormality of mucopolysaccharide metabolism (HP:0011020)2.60637108
53Abnormality of polysaccharide metabolism (HP:0011012)2.60637108
54Abnormality of glycosaminoglycan metabolism (HP:0004371)2.60637108
55Poor suck (HP:0002033)2.59928825
56Obstructive lung disease (HP:0006536)2.59532056
57Chronic obstructive pulmonary disease (HP:0006510)2.59532056
58Axonal loss (HP:0003447)2.54139656
59Increased neuronal autofluorescent lipopigment (HP:0002074)2.53484291
60Amyloidosis (HP:0011034)2.51920253
61Oligomenorrhea (HP:0000876)2.49817850
62Vacuolated lymphocytes (HP:0001922)2.47839527
63Hepatic necrosis (HP:0002605)2.47622948
64Ankle clonus (HP:0011448)2.46361952
65Prolonged bleeding time (HP:0003010)2.43926273
66Anxiety (HP:0000739)2.42074613
67EEG with generalized epileptiform discharges (HP:0011198)2.41440895
68Mucopolysacchariduria (HP:0008155)2.40917817
69Urinary glycosaminoglycan excretion (HP:0003541)2.40917817
70Cerebral inclusion bodies (HP:0100314)2.40173919
71Decreased circulating renin level (HP:0003351)2.36250847
72Increased serum ferritin (HP:0003281)2.35038890
73Abnormality of glycolysis (HP:0004366)2.34606885
74Increased serum pyruvate (HP:0003542)2.34606885
75Progressive neurologic deterioration (HP:0002344)2.33103624
76Depression (HP:0000716)2.27416632
77Cellulitis (HP:0100658)2.26313084
78Cholecystitis (HP:0001082)2.25689242
79Abnormal gallbladder physiology (HP:0012438)2.25689242
80Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.22292312
81Increased IgM level (HP:0003496)2.21535352
82Gastrointestinal infarctions (HP:0005244)2.19800359
83Vasculitis (HP:0002633)2.19655853
84Epistaxis (HP:0000421)2.18354967
85Hypsarrhythmia (HP:0002521)2.17418864
86Abnormal eating behavior (HP:0100738)2.17077269
87Vertebral compression fractures (HP:0002953)2.16488105
88Meningitis (HP:0001287)2.16209843
89Cortical visual impairment (HP:0100704)2.14187273
90Interstitial pulmonary disease (HP:0006530)2.12978931
91Urticaria (HP:0001025)2.12113285
92Hypergammaglobulinemia (HP:0010702)2.11775566
93Lactic acidosis (HP:0003128)2.10215457
94Gingival bleeding (HP:0000225)2.10177487
95Emotional lability (HP:0000712)2.08648227
96Impaired pain sensation (HP:0007328)2.08473367
97Abnormality of pain sensation (HP:0010832)2.08473367
98Autoimmune thrombocytopenia (HP:0001973)2.07889635
99Slow saccadic eye movements (HP:0000514)2.07824811
100Cerebral hypomyelination (HP:0006808)2.07822684
101Limb dystonia (HP:0002451)2.06951235
102Unsteady gait (HP:0002317)2.06940876
103Neoplasm of the peripheral nervous system (HP:0100007)2.06607929
104Optic disc pallor (HP:0000543)2.04767764
105Abnormality of binocular vision (HP:0011514)2.04706493
106Diplopia (HP:0000651)2.04706493
107Episodic fever (HP:0001954)2.04587067
108Gaze-evoked nystagmus (HP:0000640)2.02619014
109Gingivitis (HP:0000230)2.02323593
110Hepatosplenomegaly (HP:0001433)2.02242182
111Dysautonomia (HP:0002459)2.02070866
112Truncal ataxia (HP:0002078)2.01597755
113Apathy (HP:0000741)2.01204046
114Supranuclear gaze palsy (HP:0000605)2.01198290
115Abnormality of iron homeostasis (HP:0011031)2.00067638
116Pulmonary infiltrates (HP:0002113)1.99708219
117Spontaneous hematomas (HP:0007420)1.99562776
118Recurrent fungal infections (HP:0002841)1.98841093
119Delusions (HP:0000746)1.98753152
120Abnormality of glycolipid metabolism (HP:0010969)1.98608272
121Abnormality of liposaccharide metabolism (HP:0010968)1.98608272
122Abnormality of glycosphingolipid metabolism (HP:0004343)1.98608272
123Diminished motivation (HP:0000745)1.98494906
124Respiratory failure (HP:0002878)1.98046375
125Keratoconjunctivitis sicca (HP:0001097)1.97617741
126Abnormality of calcium-phosphate metabolism (HP:0100530)1.96933880
127Amblyopia (HP:0000646)1.96168530
128Genital tract atresia (HP:0001827)1.94581603
129Nuclear cataract (HP:0100018)1.94539356
130Abnormality of the heme biosynthetic pathway (HP:0010472)1.93777315
131Distal lower limb muscle weakness (HP:0009053)1.93398288
132Vaginal atresia (HP:0000148)1.93268405
133Exercise intolerance (HP:0003546)1.92400700
134Obstructive sleep apnea (HP:0002870)1.91844969
135Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.91333758
136Decreased activity of mitochondrial respiratory chain (HP:0008972)1.91333758
137Asymmetric septal hypertrophy (HP:0001670)1.90045034
138Resting tremor (HP:0002322)1.89375957
139Central scotoma (HP:0000603)1.89091704
140Recurrent skin infections (HP:0001581)1.89038893
141Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.88310268
142Abnormality of alanine metabolism (HP:0010916)1.88310268
143Hyperalaninemia (HP:0003348)1.88310268
144Polycythemia (HP:0001901)1.86880777
145Specific learning disability (HP:0001328)1.85889749
146Polyphagia (HP:0002591)1.84560634
147Glomerulonephritis (HP:0000099)1.84287784
148Joint swelling (HP:0001386)1.84216858
149Broad-based gait (HP:0002136)1.84077961
150Encephalitis (HP:0002383)1.83921524
151Gastrointestinal stroma tumor (HP:0100723)1.83892487
152Tetraplegia (HP:0002445)1.83507618
153Spinal canal stenosis (HP:0003416)1.82615216
154Dementia (HP:0000726)1.82405708
155Hypercortisolism (HP:0001578)1.81819423
156Dysostosis multiplex (HP:0000943)1.81567038
157Hypertensive crisis (HP:0100735)1.81174478
158Acne (HP:0001061)1.81166715
159Achilles tendon contracture (HP:0001771)1.80183756
160Prolonged neonatal jaundice (HP:0006579)1.79843955
161Symptomatic seizures (HP:0011145)1.79388878
162Hyperparathyroidism (HP:0000843)1.79233739
163Poor coordination (HP:0002370)1.79166880
164Abnormality of the Achilles tendon (HP:0005109)1.78896820
165Abnormality of complement system (HP:0005339)1.78784073
166Distal upper limb amyotrophy (HP:0007149)1.78518592
167Upper limb amyotrophy (HP:0009129)1.78518592
168Agitation (HP:0000713)1.77476355
169Complement deficiency (HP:0004431)1.77158077
170Leukodystrophy (HP:0002415)1.77118246
171Abnormal pupillary function (HP:0007686)1.76716854
172Muscular hypotonia of the trunk (HP:0008936)1.76445423
173Increased serum lactate (HP:0002151)1.76303392
174Abnormality of the nasal mucosa (HP:0000433)1.75366866
175Ragged-red muscle fibers (HP:0003200)1.74988845
176Growth hormone excess (HP:0000845)1.73133381
177Poor eye contact (HP:0000817)1.72019801
178Hyperinsulinemic hypoglycemia (HP:0000825)1.71914963
179Palpitations (HP:0001962)1.71128294
180Hypoventilation (HP:0002791)1.70881373
181Fetal akinesia sequence (HP:0001989)1.68768665
182Retinal dysplasia (HP:0007973)1.67973633
183Impaired vibration sensation in the lower limbs (HP:0002166)1.67703118
184Dysdiadochokinesis (HP:0002075)1.66177007
185Psychosis (HP:0000709)1.63751793
186Scanning speech (HP:0002168)1.63589915
187Dysmetria (HP:0001310)1.61852699
188Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)1.61403145

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CASK5.17888821
2MAP3K123.32349072
3NTRK33.18921739
4ERN13.11583046
5ARAF2.75452409
6MAP4K12.71203080
7MAP2K72.56957550
8DAPK22.56913960
9CDK192.50186489
10TESK22.45644693
11EPHA42.40554702
12PRPF4B2.34845184
13AKT32.26249274
14SIK32.26181723
15IRAK32.25744855
16DAPK12.13615992
17PLK22.11532162
18TBK12.04259834
19MINK12.00788760
20CCNB11.98397306
21TRIB31.96574347
22TAOK11.94595378
23MAP3K41.93114657
24RIPK11.92127751
25MAP2K31.85675436
26BRAF1.81907780
27TYK21.81133272
28MAP3K91.79077632
29NME11.78918953
30CAMKK21.77279011
31INSRR1.74752113
32TSSK61.69861872
33TNK21.68055001
34NTRK11.66446513
35NME21.59089258
36MAP3K31.58817376
37BLK1.56751322
38ZAP701.50503076
39GRK51.48321952
40PRKD31.47839716
41STK161.41135202
42IRAK41.36573085
43OXSR11.32750466
44IKBKE1.30405353
45EPHB11.28287492
46SGK4941.24498143
47SGK2231.24498143
48CSK1.22582407
49PRKCG1.17866104
50SIK11.16152053
51BCR1.15918926
52BMPR21.08655397
53MYLK1.08651528
54CDK51.07610881
55GRK61.07442050
56KSR21.06298832
57JAK11.05390705
58JAK31.04783685
59MAP3K21.04143560
60MARK21.03928418
61SYK1.03439706
62MAP2K41.03425859
63PAK61.02418119
64MAPK131.01655027
65FGFR41.00088663
66MAP3K140.99542951
67SGK20.96553008
68MAPK150.95943495
69RIPK40.95588173
70PRKD20.95366554
71KSR10.94718403
72CAMK2B0.94382543
73TXK0.94162144
74PRKCE0.93096807
75SMG10.92874972
76DAPK30.91877960
77MATK0.91606312
78CDK180.90711914
79CAMK2A0.90301493
80CAMK2D0.89892912
81CDK140.86493234
82TESK10.86485111
83LIMK10.85782900
84IKBKB0.85416054
85MAP3K10.84630099
86MAPK120.84253410
87PDK10.82271375
88CAMKK10.81495324
89KDR0.80749353
90JAK20.80210948
91PTK2B0.79872431
92UHMK10.77512663
93CDK150.77498003
94LMTK20.77482675
95FGR0.76611730
96PDK30.76451889
97PDK40.76451889
98TAOK30.75255601
99SIK20.75121602
100HCK0.75058515
101ABL20.74236628
102WNK30.73427402
103HIPK20.73166417
104MOS0.72792670
105BTK0.72344043
106FER0.70213992
107PRKCH0.69932580
108DDR20.68925063
109ICK0.67951161
110IRAK20.67461550
111PDK20.67391308
112EIF2AK30.67339270
113CDK11A0.66725870
114MAPK110.66110309
115MAP2K10.65840352
116BMX0.65583515
117LYN0.61775203
118MARK10.60558618
119MAP3K130.59350805
120MAP3K50.59209029
121PINK10.59160531
122LCK0.57961656
123DYRK1A0.57527749
124PRKG20.57326674
125NEK10.56273300
126WNK40.55843001
127CSF1R0.55695991
128SCYL20.54587902
129CAMK2G0.54526932
130KIT0.54300419
131MAP3K110.54079891
132BMPR1B0.53389435
133ADRBK10.52308068
134PHKG10.51569482
135PHKG20.51569482
136PIM20.51303805
137ADRBK20.51146846
138TTN0.50658484
139TAOK20.48804282
140TGFBR20.47753001
141MAP2K60.47092318
142CDC42BPA0.47082721
143NEK60.46412666
144PRKCI0.44901515
145SGK30.44639658
146FYN0.44497923
147PAK10.44480079
148PASK0.44478500
149GRK70.44435018
150PAK30.43526807
151PRKACA0.43005831
152PRKD10.42550170
153MAPK40.42284598
154DYRK1B0.42142494
155FES0.41114043
156RPS6KA20.40942404
157MAPKAPK30.40392360
158STK380.39791178
159TNIK0.39259241
160MUSK0.39038509
161CAMK10.38297291
162BCKDK0.37754545
163NTRK20.37157971
164PDPK10.35539249
165RAF10.35305570

Predicted pathways (KEGG)

RankGene SetZ-score
1* Synaptic vesicle cycle_Homo sapiens_hsa047214.36434452
2Collecting duct acid secretion_Homo sapiens_hsa049663.93651970
3Vibrio cholerae infection_Homo sapiens_hsa051103.12556845
4Nicotine addiction_Homo sapiens_hsa050333.05171413
5Oxidative phosphorylation_Homo sapiens_hsa001902.80737597
6Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.50171851
7Protein export_Homo sapiens_hsa030602.42086145
8Insulin secretion_Homo sapiens_hsa049112.33112863
9Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.31569050
10Olfactory transduction_Homo sapiens_hsa047402.28779122
11GABAergic synapse_Homo sapiens_hsa047272.28098433
12Osteoclast differentiation_Homo sapiens_hsa043802.25830081
13Morphine addiction_Homo sapiens_hsa050322.18944138
14Circadian entrainment_Homo sapiens_hsa047132.18940460
15Toll-like receptor signaling pathway_Homo sapiens_hsa046202.11652861
16Amphetamine addiction_Homo sapiens_hsa050312.06960890
17Parkinsons disease_Homo sapiens_hsa050121.99350067
18Staphylococcus aureus infection_Homo sapiens_hsa051501.97382933
19Leishmaniasis_Homo sapiens_hsa051401.92243937
20Taste transduction_Homo sapiens_hsa047421.90238032
21Long-term potentiation_Homo sapiens_hsa047201.82206578
22Glycosaminoglycan degradation_Homo sapiens_hsa005311.80388943
23Dopaminergic synapse_Homo sapiens_hsa047281.79418988
24Tuberculosis_Homo sapiens_hsa051521.76206890
25Maturity onset diabetes of the young_Homo sapiens_hsa049501.72603946
26Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.72555248
27Alzheimers disease_Homo sapiens_hsa050101.70685683
28Allograft rejection_Homo sapiens_hsa053301.70682563
29Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.70102258
30Malaria_Homo sapiens_hsa051441.64364821
31Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.59881088
32SNARE interactions in vesicular transport_Homo sapiens_hsa041301.59716076
33Graft-versus-host disease_Homo sapiens_hsa053321.57860958
34Serotonergic synapse_Homo sapiens_hsa047261.53153993
35Glutamatergic synapse_Homo sapiens_hsa047241.53070919
36Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.52061548
37Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.49861202
38Autoimmune thyroid disease_Homo sapiens_hsa053201.48677097
39RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.48640568
40Pertussis_Homo sapiens_hsa051331.45218016
41Cocaine addiction_Homo sapiens_hsa050301.44282658
42B cell receptor signaling pathway_Homo sapiens_hsa046621.43816691
43Rheumatoid arthritis_Homo sapiens_hsa053231.43659331
44Primary immunodeficiency_Homo sapiens_hsa053401.36522519
45Cholinergic synapse_Homo sapiens_hsa047251.34961450
46Salmonella infection_Homo sapiens_hsa051321.34608841
47Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.34608324
48Salivary secretion_Homo sapiens_hsa049701.32014017
49NF-kappa B signaling pathway_Homo sapiens_hsa040641.31086986
50Type I diabetes mellitus_Homo sapiens_hsa049401.30766380
51Regulation of autophagy_Homo sapiens_hsa041401.30662946
52Cardiac muscle contraction_Homo sapiens_hsa042601.30225237
53Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.24421817
54Huntingtons disease_Homo sapiens_hsa050161.23558217
55Influenza A_Homo sapiens_hsa051641.23119485
56TNF signaling pathway_Homo sapiens_hsa046681.22000790
57Acute myeloid leukemia_Homo sapiens_hsa052211.19388023
58Proteasome_Homo sapiens_hsa030501.19256580
59Chemokine signaling pathway_Homo sapiens_hsa040621.17315991
60African trypanosomiasis_Homo sapiens_hsa051431.16147891
61VEGF signaling pathway_Homo sapiens_hsa043701.14088151
62Renin secretion_Homo sapiens_hsa049241.13377608
63Phagosome_Homo sapiens_hsa041451.11535029
64Calcium signaling pathway_Homo sapiens_hsa040201.09403799
65Antigen processing and presentation_Homo sapiens_hsa046121.09373748
66Long-term depression_Homo sapiens_hsa047301.09270223
67Hepatitis C_Homo sapiens_hsa051601.08946611
68Shigellosis_Homo sapiens_hsa051311.08674524
69Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.07835273
70Toxoplasmosis_Homo sapiens_hsa051451.06904070
71Aldosterone synthesis and secretion_Homo sapiens_hsa049251.05534524
72Asthma_Homo sapiens_hsa053101.05260158
73Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.04154267
74Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.04011936
75Measles_Homo sapiens_hsa051621.01486086
76Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.00753385
77Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.00215290
78Legionellosis_Homo sapiens_hsa051340.99990089
79Oxytocin signaling pathway_Homo sapiens_hsa049210.99033140
80Phototransduction_Homo sapiens_hsa047440.97240593
81Fructose and mannose metabolism_Homo sapiens_hsa000510.96205823
82Viral myocarditis_Homo sapiens_hsa054160.95992774
83Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.95733484
84Gastric acid secretion_Homo sapiens_hsa049710.95622546
85Hematopoietic cell lineage_Homo sapiens_hsa046400.95128185
86NOD-like receptor signaling pathway_Homo sapiens_hsa046210.94910979
87Intestinal immune network for IgA production_Homo sapiens_hsa046720.94679465
88Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.92005142
89T cell receptor signaling pathway_Homo sapiens_hsa046600.91824106
90Lysosome_Homo sapiens_hsa041420.91185278
91Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.89807258
92Herpes simplex infection_Homo sapiens_hsa051680.84776592
93Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.84692893
94Adipocytokine signaling pathway_Homo sapiens_hsa049200.83325496
95Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.83154640
96Type II diabetes mellitus_Homo sapiens_hsa049300.81348390
97Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.80803040
98Pancreatic secretion_Homo sapiens_hsa049720.80572396
99Circadian rhythm_Homo sapiens_hsa047100.78909589
100Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.78001689
101Pyruvate metabolism_Homo sapiens_hsa006200.77444906
102Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.76134793
1032-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.75274342
104Hepatitis B_Homo sapiens_hsa051610.74049665
105Pentose phosphate pathway_Homo sapiens_hsa000300.74019167
106Apoptosis_Homo sapiens_hsa042100.73398754
107Platelet activation_Homo sapiens_hsa046110.72843113
108cAMP signaling pathway_Homo sapiens_hsa040240.71871827
109Vascular smooth muscle contraction_Homo sapiens_hsa042700.69876989
110Jak-STAT signaling pathway_Homo sapiens_hsa046300.68656363
111Sulfur metabolism_Homo sapiens_hsa009200.68387003
112Gap junction_Homo sapiens_hsa045400.67103088
113Sphingolipid signaling pathway_Homo sapiens_hsa040710.66935261
114Phosphatidylinositol signaling system_Homo sapiens_hsa040700.65599924
115cGMP-PKG signaling pathway_Homo sapiens_hsa040220.65580426
116Leukocyte transendothelial migration_Homo sapiens_hsa046700.65526937
117Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.65323109
118Amoebiasis_Homo sapiens_hsa051460.64968905
119Phospholipase D signaling pathway_Homo sapiens_hsa040720.63601159
120Bladder cancer_Homo sapiens_hsa052190.62003300
121Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.59815886
122Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.59190852
123Non-small cell lung cancer_Homo sapiens_hsa052230.58722316
124Other glycan degradation_Homo sapiens_hsa005110.58002019
125GnRH signaling pathway_Homo sapiens_hsa049120.56374093
126Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.56043902
127Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.55245835
128Complement and coagulation cascades_Homo sapiens_hsa046100.54542207
129Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.54320879
130Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.48215031
131Prolactin signaling pathway_Homo sapiens_hsa049170.48180754
132Galactose metabolism_Homo sapiens_hsa000520.46412161
133Fatty acid elongation_Homo sapiens_hsa000620.46321569
134AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.44472975
135Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.43597006
136Pancreatic cancer_Homo sapiens_hsa052120.43576200
137Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.43443319
138Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.42998847
139Chronic myeloid leukemia_Homo sapiens_hsa052200.42426053
140N-Glycan biosynthesis_Homo sapiens_hsa005100.42386887
141PPAR signaling pathway_Homo sapiens_hsa033200.41045840
142Dilated cardiomyopathy_Homo sapiens_hsa054140.39880435
143Alcoholism_Homo sapiens_hsa050340.39739912
144Estrogen signaling pathway_Homo sapiens_hsa049150.39724063
145Glucagon signaling pathway_Homo sapiens_hsa049220.39138963
146Thyroid hormone synthesis_Homo sapiens_hsa049180.36767847
147Carbohydrate digestion and absorption_Homo sapiens_hsa049730.33967026
148Melanogenesis_Homo sapiens_hsa049160.32226407
149Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.31737927
150Carbon metabolism_Homo sapiens_hsa012000.30517192
151Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.30348424
152ErbB signaling pathway_Homo sapiens_hsa040120.30218806
153MAPK signaling pathway_Homo sapiens_hsa040100.29356794
154Sphingolipid metabolism_Homo sapiens_hsa006000.28742513
155Endocytosis_Homo sapiens_hsa041440.28274709
156Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.27904549
157Inositol phosphate metabolism_Homo sapiens_hsa005620.24764052
158Glioma_Homo sapiens_hsa052140.24179425
159Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.22065171
160Prion diseases_Homo sapiens_hsa050200.19198319
161Neurotrophin signaling pathway_Homo sapiens_hsa047220.19160053
162Ras signaling pathway_Homo sapiens_hsa040140.19001537
163Oocyte meiosis_Homo sapiens_hsa041140.17667129
164Insulin signaling pathway_Homo sapiens_hsa049100.17149166
165Axon guidance_Homo sapiens_hsa043600.16786187
166Metabolic pathways_Homo sapiens_hsa011000.16644057

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